variantaccession chr start end varianttype variantsubtype reference pubmedid method platform mergedvariants supportingvariants mergedorsample frequency samplesize observedgains observedlosses cohortdescription genes samples nsv482937 1 1 2300000 CNV loss Iafrate_et_al_2004 15286789 BAC aCGH,FISH nssv2995976 M 39 0 1 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,C1orf86,CALML6,CCNL2,CDK11A,CDK11B,CPSF3L,DDX11L1,DVL1,FAM132A,FAM138A,FAM138F,FAM41C,FAM87B,GABRD,GLTPD1,GNB1,HES4,ISG15,KIAA1751,KLHL17,LINC00115,LINC01128,LOC100129534,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC148413,LOC254099,LOC729737,MIB2,MIR200A,MIR200B,MIR429,MIR6723,MIR6726,MIR6727,MIR6808,MIR6859-1,MIR6859-2,MMP23A,MMP23B,MORN1,MRPL20,MXRA8,NADK,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,PRKCZ,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SKI,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM52,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1,WASH7P dgv1n82 1 10001 22118 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nsv945698,nsv945697 M 97 10 0 DDX11L1,MIR6859-1,MIR6859-2,WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6138160 1 10001 52000 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889290 M 3202 1 0 DDX11L1,FAM138A,FAM138F,MIR6859-1,MIR6859-2,WASH7P nsv7879 1 10001 127330 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv14772,nssv14787,nssv14770,nssv14786,nssv14790,nssv14773,nssv18103,nssv14783,nssv21423,nssv14771,nssv14763,nssv14788,nssv14785,nssv14775,nssv14774,nssv14789,nssv14781,nssv14791,nssv14780,nssv14764,nssv14782,nssv18113,nssv18093,nssv14784,nssv18117,nssv14777,nssv14776,nssv14762,nssv14768,nssv14766 M 31 25 1 DDX11L1,FAM138A,FAM138F,MIR6859-1,MIR6859-2,OR4F5,WASH7P NA07029,NA07048,NA10839,NA10863,NA12155,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv6042599 1 10059 10059 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518260 M 405 1 0 "" esv3648995 1 10151 10389 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16463302 M 20 0 0 "" nsv958854 1 10191 10281 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005193 M 1 0 1 "" BILGI_BIOE nsv428112 1 10377 177417 CNV gain Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv450130 M 62 1 0 DDX11L1,FAM138A,FAM138F,LOC729737,MIR6859-1,MIR6859-2,OR4F5,WASH7P HGDP01088 esv2758911 1 10377 1018704 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756831,esv2757715 M 270 17 169 AGRN,C1orf159,C1orf170,DDX11L1,FAM138A,FAM138F,FAM41C,FAM87B,HES4,ISG15,KLHL17,LINC00115,LINC01128,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,MIR6723,MIR6859-1,MIR6859-2,NOC2L,OR4F16,OR4F29,OR4F3,OR4F5,PLEKHN1,RNF223,SAMD11,WASH7P NA06985,NA07000,NA07019,NA07034,NA07056,NA10835,NA10838,NA10846,NA10855,NA10857,NA10860,NA10863,NA11829,NA11830,NA11832,NA11840,NA11993,NA11994,NA11995,NA12004,NA12005,NA12044,NA12056,NA12057,NA12144,NA12155,NA12234,NA12239,NA12248,NA12249,NA12740,NA12752,NA12760,NA12762,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12864,NA12865,NA12873,NA12874,NA12875,NA12891,NA18500,NA18501,NA18502,NA18505,NA18506,NA18507,NA18508,NA18516,NA18521,NA18523,NA18524,NA18529,NA18532,NA18537,NA18540,NA18545,NA18547,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18593,NA18603,NA18608,NA18609,NA18611,NA18620,NA18621,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18858,NA18859,NA18860,NA18861,NA18862,NA18863,NA18871,NA18912,NA18913,NA18914,NA18940,NA18944,NA18947,NA18949,NA18951,NA18952,NA18956,NA18959,NA18960,NA18961,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18974,NA18975,NA18976,NA18978,NA18981,NA18990,NA18991,NA18994,NA18995,NA18997,NA18998,NA19000,NA19007,NA19094,NA19098,NA19100,NA19101,NA19102,NA19103,NA19116,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19142,NA19143,NA19153,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223 nsv6053057 1 10380 10380 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525697 M 405 1 0 "" esv27265 1 10499 177368 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv16041,esv19525,esv17542,esv14423,esv20178,esv15038,esv19430 M 40 32 6 DDX11L1,FAM138A,FAM138F,LOC729737,MIR6859-1,MIR6859-2,OR4F5,WASH7P NA06985,NA07037,NA11894,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv3319479 1 10501 78200 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14489413,nssv14482516,nssv14487076,nssv14484412 M 14 4 0 DDX11L1,FAM138A,FAM138F,MIR6859-1,MIR6859-2,OR4F5,WASH7P HG00268,HG02106,HG04217,NA19240 nsv5617327 1 10627 10627 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059871 M 35 1 0 "" HG03371 nsv6050970 1 10657 10657 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534439 M 405 1 0 "" nsv3320784 1 10726 10726 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489056 M 14 1 0 "" HG00268 nsv1147468 1 11099 47000 CNV duplication John_et_al_2014 26484159 Sequencing nssv4000242 M 1 1 0 DDX11L1,FAM138A,FAM138F,MIR6859-1,MIR6859-2,WASH7P KWB1 dgv1n106 1 11100 29200 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1141121,nsv1118423 M 2 2 0 DDX11L1,MIR6859-1,MIR6859-2,WASH7P KWS1,KWS2 dgv1e59 1 11189 36787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3364878,esv3343481 M 185 2 0 DDX11L1,FAM138A,FAM138F,MIR6859-1,MIR6859-2,WASH7P NA12878,NA19239 nsv1076307 1 11599 72400 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3769696 M 1 1 0 DDX11L1,FAM138A,FAM138F,MIR6859-1,MIR6859-2,OR4F5,WASH7P KWP1 nsv3319178 1 12601 27100 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14484987,nssv14484800,nssv14486057,nssv14474028,nssv14485912,nssv14491148,nssv14490494,nssv14473887,nssv14484130,nssv14476828,nssv14475430 M 14 11 0 DDX11L1,MIR6859-1,MIR6859-2,WASH7P CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,NA12878,NA19434 nsv945700 1 22118 22723 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570952,nssv2571018,nssv2571099,nssv2570930,nssv2570996,nssv2571007,nssv2570963,nssv2570974,nssv2572228,nssv2570985,nssv2570941,nssv2572127 M 97 10 0 WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945699 1 22118 35020 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749224,nssv1755477,nssv1749225,nssv1755473,nssv1749229,nssv1749219,nssv1749221,nssv1749220,nssv1749240,nssv1749215,nssv1749235,nssv1755465,nssv1749231,nssv1749209,nssv1749247,nssv1749260,nssv1749233,nssv1755478,nssv1749252,nssv1749210,nssv1749236,nssv1755472,nssv1749242,nssv1749206,nssv1749241,nssv1749262,nssv1749255,nssv1749257,nssv1749239,nssv1749264,nssv1749244,nssv1749263,nssv1749230,nssv1755468,nssv1749249,nssv1749208,nssv1749226,nssv1749214,nssv1749246,nssv1749207,nssv1749248,nssv1749202,nssv1749238,nssv1755476,nssv1749251,nssv1749266,nssv1749250,nssv1749261,nssv1749253,nssv1749259,nssv1749232,nssv1749213,nssv1749228,nssv1755467,nssv1749243,nssv1755479,nssv1749237,nssv1755464,nssv1749222,nssv1755460,nssv1749227,nssv1749211,nssv1749254,nssv1755474,nssv1755461,nssv1749218,nssv1749265,nssv1749258,nssv1755469,nssv1755466,nssv1755462,nssv1749217,nssv1755471,nssv1749205,nssv1755463,nssv1749204,nssv1749216,nssv1755480,nssv1755475,nssv1749203 M 97 10 0 FAM138A,FAM138F,WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945484 1 23661 24819 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2576562,nssv2575211,nssv2576085,nssv2572738,nssv2576569,nssv2576580,nssv2576567,nssv2572827,nssv2575984,nssv2575221,nssv2576550,nssv2576585,nssv2576570,nssv2570920,nssv2576561,nssv2575214,nssv2576576,nssv2575224,nssv2576574,nssv2572826,nssv2576556,nssv2576583,nssv2576563,nssv2575440,nssv2576566,nssv2575220,nssv2576578,nssv2575237,nssv2576557,nssv2572828,nssv2576186,nssv2575209,nssv2576559,nssv2575188,nssv2576573,nssv2572861,nssv2576577,nssv2572962,nssv2576549,nssv2575338,nssv2576551,nssv2575222,nssv2576560,nssv2574088,nssv2576555,nssv2574190,nssv2576565,nssv2572831,nssv2576548,nssv2575223,nssv2576552,nssv2575215,nssv2576571,nssv2570921,nssv2576568,nssv2575212,nssv2576572,nssv2575213,nssv2576579,nssv2575210,nssv2576558,nssv2572823,nssv2576554,nssv2576582,nssv2576547,nssv2576584,nssv2572829,nssv2575208,nssv2570922,nssv2573987,nssv2572821,nssv2575219,nssv2572820,nssv2575218,nssv2572822,nssv2572824,nssv2572830,nssv2570923,nssv2575217,nssv2576581 M 97 10 0 WASH7P HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv469759 1 27980 177346 CNV gain Locke_et_al_2006 16826518 BAC aCGH nssv1675248,nssv1676217,nssv1675941,nssv1673181,nssv1675044,nssv1673526,nssv1674201,nssv1676076,nssv1672641,nssv1672137,nssv1672301,nssv1673353,nssv1674071,nssv1675415 M 265 14 0 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P nsv471591 1 27981 177346 CNV loss Sharp_et_al_2005 15918152 BAC aCGH,FISH nssv550437,nssv550436,nssv550438,nssv550435 M 48 0 4 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P NA10492,NA10970,NA10971,NA17051 nsv5419146 1 28000 140000 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899259 M 3202 0 0 FAM138A,FAM138F,LOC729737,OR4F5,WASH7P esv3433926 1 28989 35387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692083 M 185 1 0 FAM138A,FAM138F,WASH7P NA12892 nsv945486 1 30626 35020 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570976,nssv2570926,nssv2570946,nssv2570928,nssv2570957,nssv2570935,nssv2570949,nssv2570932,nssv2570955,nssv2570940,nssv2570973,nssv2570927,nssv2570972,nssv2570929,nssv2570944,nssv2570939,nssv2570953,nssv2570931,nssv2570943,nssv2570938,nssv2570965,nssv2570933,nssv2570975,nssv2570925,nssv2570969,nssv2570937,nssv2570951,nssv2570934,nssv2570947,nssv2570942,nssv2570959,nssv2570936,nssv2570962,nssv2570948,nssv2570971,nssv2570966,nssv2570970,nssv2570950,nssv2570954,nssv2570961,nssv2570967,nssv2570960,nssv2570945,nssv2570977,nssv2570956,nssv2570958,nssv2570968,nssv2570964 M 97 10 0 FAM138A,FAM138F HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1139462 1 32400 35100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977049 M 2 1 0 FAM138A,FAM138F KWS2 nsv1110123 1 33700 36300 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3959388 M 2 1 0 FAM138A,FAM138F KWS1 nsv945487 1 35020 41109 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570988,nssv2570979,nssv2570978,nssv2570984,nssv2570982,nssv2570987,nssv2570986,nssv2570989,nssv2570981,nssv2570983,nssv2570980 M 97 10 0 FAM138A,FAM138F HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3411655 1 37489 43587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692270 M 185 1 0 "" NA19238 esv3430433 1 38889 40687 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692283 M 185 1 0 "" NA12878 nsv6138802 1 40000 107150 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900445 M 3202 0 1 OR4F5 nsv3325054 1 40901 51900 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14483491 M 14 1 0 "" NA12878 nsv3192608 1 41001 79829 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14322123,nssv14322120,nssv14322121,nssv14322124,nssv14322117,nssv14322119,nssv14322125,nssv14322122,nssv14322118 M 9 0 0 OR4F5 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3368735 1 44989 51487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692302 M 185 1 0 "" NA19238 dgv1n54 1 45531 121042 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544869,nsv544868,nsv544866 M 17421 0 3 OR4F5 esv3369077 1 45789 46987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692306 M 185 1 0 "" NA19239 esv3428396 1 45889 53987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692307 M 185 1 0 "" NA19240 nsv4514092 1 46000 111250 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780799,nssv15780793,nssv15780795,nssv15780791,nssv15780798,nssv15780797,nssv15780794,nssv15780796,nssv15780792 M 10847 0 0 OR4F5 nsv951399 1 46501 71800 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997203 M 1 1 0 OR4F5 BILGI_BIOE esv3439865 1 47689 51487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692320 M 185 1 0 "" NA19239 nsv544867 1 49298 82154 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707616,nssv707617 M 17421 1 1 OR4F5 nsv1112509 1 51800 52300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966608 M 2 0 1 "" KWS2 esv3335281 1 52089 54387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692333 M 185 1 0 "" NA19238 nsv1112510 1 53700 63800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966609 M 2 0 1 "" KWS2 nsv1118083 1 53900 54800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980301 M 2 0 1 "" KWS1 nsv4536437 1 54665 54666 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024555 M 10847 1 0 "" nsv1143416 1 55100 56000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980613 M 2 0 1 "" KWS1 nsv437198 1 55394 86303 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467079 M 60 0 1 OR4F5 NA19208 nsv1126159 1 56400 57400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984385 M 2 0 1 "" KWS1 nsv1143417 1 57600 58500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980614 M 2 0 1 "" KWS1 nsv3324463 1 59599 59599 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14488053 M 14 1 0 "" NA19434 nsv3523498 1 59605 59605 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388880 M 9 1 0 "" NA19240 nsv3324042 1 60901 71500 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14478394,nssv14484668,nssv14489204 M 14 3 0 OR4F5 HG00268,HG04217,NA19434 nsv1126160 1 61200 64200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984386 M 2 0 1 "" KWS1 dgv2n100 1 61723 792480 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014330,nsv1010257,nsv998573,nsv1009070,nsv1004629 M 11257 41 6 FAM87B,LINC00115,LINC01128,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,MIR6723,OR4F16,OR4F29,OR4F3,OR4F5 nsv999242 1 61723 824124 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479990 M 11257 0 1 FAM41C,FAM87B,LINC00115,LINC01128,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,MIR6723,OR4F16,OR4F29,OR4F3,OR4F5 dgv3n100 1 61723 837073 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002580,nsv1009584,nsv1002712,nsv1001532,nsv1001549,nsv1000964,nsv1011779,nsv997879,nsv998077,nsv1012687,nsv1011222,nsv1007952,nsv999289,nsv999814,nsv1007490,nsv999976,nsv1013955,nsv1011132,nsv1010556 M 11257 59 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100132062,LOC100132287,LOC100133331,LOC100288069,LOC729737,MIR6723,OR4F16,OR4F29,OR4F3,OR4F5 nsv4036772 1 62399 62489 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851241 M 10847 0 1 "" dgv2e59 1 63489 66287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3333057,esv3353898 M 185 2 0 "" NA19238,NA19240 dgv2n106 1 65800 66900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1130934,nsv1143418 M 2 0 2 "" KWS1,KWS2 nsv437859 1 66008 79078 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv471090,nssv470979,nssv471312,nssv471201,nssv471423,nssv467740,nssv469962,nssv468851 M 269 0 8 OR4F5 NA10831,NA10857,NA12044,NA12155,NA18912,NA18914,NA19207,NA19208 nsv5870368 1 66224 66274 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376453 M 914 0 1 "" nsv5984662 1 66225 66284 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522275 M 405 0 1 "" nsv5615308 1 66325 66325 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066378 M 35 1 0 "" HG03371 nsv4052037 1 66350 66427 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853163 M 10847 0 1 "" nsv5611213 1 66481 66481 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066381 M 35 1 0 "" HG03371 nsv4534208 1 66531 66532 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023685 M 10847 1 0 "" nsv4534800 1 66576 66577 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025254 M 10847 1 0 "" dgv3e59 1 66789 68887 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3441117,esv3341557,esv3366041 M 185 3 0 "" NA19238,NA19239,NA19240 nsv5984803 1 67910 68341 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527980 M 405 0 1 "" nsv514929 1 68497 70627 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2867226,nssv2859861,nssv2863719,nssv2866514,nssv2860704,nssv2865555,nssv2867728,nssv2864843,nssv2865947,nssv2862506,nssv2861190,nssv2860333,nssv2867849,nssv2860077,nssv2863060,nssv2861692,nssv2866813,nssv2858575,nssv2866706,nssv2860335,nssv2859117,nssv2868166,nssv2858615,nssv2867381,nssv2860682,nssv2863855,nssv2868423,nssv2862824,nssv2860722,nssv2865669,nssv2862436,nssv2860178,nssv2859914,nssv2864118,nssv2865753,nssv2868265,nssv2866559,nssv2860377,nssv2866257,nssv2865628,nssv2862087,nssv2860563,nssv2867504,nssv2858788,nssv2862096,nssv2867938,nssv2859048,nssv2862970,nssv2865034,nssv2862362,nssv2862713,nssv2864040,nssv2867549,nssv2866269,nssv2859968,nssv2861240,nssv2865860,nssv2862715,nssv2866234,nssv2860020,nssv2859104,nssv2861708,nssv2867174,nssv2860690,nssv2860038,nssv2865484,nssv2868419,nssv2866371,nssv2865147,nssv2865011,nssv2861962,nssv2862733,nssv2865827,nssv2866940,nssv2866018,nssv2860422,nssv2860032,nssv2867901,nssv2865416,nssv2860437,nssv2862223,nssv2859331,nssv2866307,nssv2862898,nssv2863393,nssv2863534,nssv2862629,nssv2860343,nssv2862774,nssv2863164,nssv2861553,nssv2860124,nssv2865409,nssv2868454,nssv2864208,nssv2858702,nssv2859883,nssv2866560,nssv2863065,nssv2858633,nssv2866148,nssv2863454,nssv2867603,nssv2867562,nssv2859290,nssv2862291,nssv2862335,nssv2862365,nssv2862079,nssv2861581,nssv2863950,nssv2868486,nssv2867452,nssv2860210,nssv2859022,nssv2861250,nssv2866522,nssv2864873,nssv2864107,nssv2867088,nssv2866045,nssv2860627,nssv2859384,nssv2867841,nssv2863363,nssv2864540,nssv2867920,nssv2859788,nssv2862199,nssv2865611,nssv2863165,nssv2868151,nssv2862935,nssv2867681,nssv2867650,nssv2867224,nssv2866438,nssv2858941,nssv2861378,nssv2863171,nssv2864418,nssv2867596,nssv2862601,nssv2865361,nssv2859934,nssv2864356,nssv2858755,nssv2861677,nssv2864530,nssv2863379,nssv2865040,nssv2860825,nssv2867873,nssv2868413,nssv2859712,nssv2862690,nssv2859094,nssv2861479,nssv2861924,nssv2861368,nssv2859630,nssv2866786,nssv2865468,nssv2861101,nssv2862036,nssv2860254,nssv2859864,nssv2858870,nssv2861618,nssv2868367,nssv2864331,nssv2861048,nssv2866673,nssv2866078,nssv2863432,nssv2865664,nssv2866623,nssv2859964,nssv2862868,nssv2861540,nssv2866710,nssv2860681,nssv2859540,nssv2866378,nssv2866359,nssv2864915,nssv2868183,nssv2862538,nssv2859451,nssv2860672,nssv2865964,nssv2860253,nssv2864672,nssv2860629,nssv2865228,nssv2863605,nssv2864983,nssv2864526,nssv2863993,nssv2863278,nssv2865841,nssv2864859,nssv2864223,nssv2859079,nssv2867787,nssv2865160,nssv2861183,nssv2867398,nssv2859693,nssv2865754,nssv2863709,nssv2867616,nssv2860187,nssv2864949,nssv2859680,nssv2863214,nssv2864123,nssv2867078,nssv2858528,nssv2859105,nssv2863089,nssv2866377,nssv2863010,nssv2866448,nssv2867208,nssv2866507,nssv2859489,nssv2859274,nssv2865874,nssv2865168,nssv2863485,nssv2860153,nssv2863842,nssv2863356,nssv2859063,nssv2867410,nssv2865937,nssv2866214,nssv2868137,nssv2864317,nssv2862385,nssv2858700,nssv2862159,nssv2863102,nssv2861997,nssv2861485,nssv2859913,nssv2860942,nssv2862138,nssv2860873,nssv2865588,nssv2864744,nssv2860788,nssv2860242,nssv2866290,nssv2863568,nssv2867808,nssv2863475,nssv2858675,nssv2863101,nssv2866655,nssv2862006,nssv2865098,nssv2865146,nssv2867498,nssv2867664,nssv2867294,nssv2867615,nssv2861172,nssv2858866,nssv2865665,nssv2859822,nssv2859204,nssv2858559,nssv2867343,nssv2864902,nssv2864991,nssv2860945,nssv2860789,nssv2862350,nssv2860286,nssv2863591,nssv2861958,nssv2858825,nssv2867651,nssv2858998,nssv2866252,nssv2859541,nssv2863666,nssv2863565,nssv2859388,nssv2861512,nssv2867670,nssv2864702,nssv2861660,nssv2864910,nssv2862492,nssv2868005,nssv2860819,nssv2860365,nssv2862848,nssv2859842,nssv2867083,nssv2862930,nssv2868351,nssv2860715,nssv2860526,nssv2860832,nssv2864825,nssv2865483,nssv2866610,nssv2867539,nssv2858896,nssv2868209,nssv2859496,nssv2858644,nssv2860935,nssv2860233,nssv2860414,nssv2862418,nssv2867361,nssv2862825,nssv2867068,nssv2862796,nssv2865513,nssv2864784,nssv2861391,nssv2865029,nssv2866887,nssv2866778,nssv2864517,nssv2864864,nssv2863069,nssv2859613,nssv2862812,nssv2859869,nssv2865735,nssv2859776,nssv2860984,nssv2860747,nssv2865957,nssv2864750,nssv2865129,nssv2866198,nssv2865815,nssv2860971,nssv2864218,nssv2862080,nssv2867462,nssv2864820,nssv2863563,nssv2863617,nssv2867418,nssv2866480,nssv2866062,nssv2867485,nssv2858884,nssv2859644,nssv2862633,nssv2862192,nssv2865521,nssv2863944,nssv2867544,nssv2860623,nssv2862869,nssv2860212,nssv2867258,nssv2858572,nssv2866676,nssv2867583,nssv2866382,nssv2864020,nssv2866294,nssv2862650,nssv2859135,nssv2860687,nssv2864514,nssv2864238,nssv2863732,nssv2868000,nssv2863741,nssv2867827,nssv2867781,nssv2866178,nssv2859125,nssv2863085,nssv2863788,nssv2860399,nssv2859426,nssv2867259,nssv2863459,nssv2859300,nssv2862299,nssv2864124,nssv2861262,nssv2864878,nssv2865279,nssv2860595,nssv2867399,nssv2862501,nssv2859547,nssv2859919,nssv2864647,nssv2864815,nssv2864852,nssv2864246,nssv2858799,nssv2864340,nssv2864295,nssv2861909,nssv2866855,nssv2865003,nssv2862647,nssv2863257,nssv2864277,nssv2859332,nssv2864712,nssv2860951,nssv2861515,nssv2860024,nssv2863340,nssv2867567,nssv2868096,nssv2860782,nssv2866245,nssv2861154,nssv2861611,nssv2868108,nssv2861367,nssv2860772,nssv2862589,nssv2867142,nssv2865643,nssv2863543,nssv2861109,nssv2859301,nssv2865928,nssv2867263,nssv2859927,nssv2864900,nssv2861598,nssv2864968,nssv2859448,nssv2863896,nssv2865293,nssv2862317,nssv2867588,nssv2867969,nssv2863400,nssv2868077,nssv2866509,nssv2858768,nssv2860673,nssv2861327,nssv2862788,nssv2865369,nssv2868296,nssv2863552,nssv2861308,nssv2861561,nssv2861396,nssv2867535,nssv2860838,nssv2866470,nssv2866508,nssv2863149,nssv2867619,nssv2864501,nssv2861727,nssv2868431,nssv2865284,nssv2864621,nssv2858540,nssv2863237,nssv2863524,nssv2859667,nssv2862780,nssv2866100,nssv2858735,nssv2866525,nssv2866593,nssv2864239,nssv2858883,nssv2865749,nssv2865417,nssv2866282,nssv2862349,nssv2864999 M 2366 488 0 OR4F5 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10851,NA10852,NA10855,NA10856,NA10857,NA10859,NA10860,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12043,NA12044,NA12045,NA12056,NA12058,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12329,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12414,NA12485,NA12489,NA12546,NA12708,NA12716,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18518,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19177,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21310,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21404,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21512,NA21513,NA21514,NA21522,NA21523,NA21524,NA21525,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21717,NA21718 nsv544870 1 73202 137452 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707620 M 17421 0 1 LOC729737 nsv1112511 1 74600 75100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968385,nssv3984387 M 2 0 2 "" KWS1,KWS2 dgv3n106 1 75800 90300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1130935,nsv1143419 M 2 0 2 "" KWS1,KWS2 nsv945701 1 77882 88084 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749277,nssv1749295,nssv1750684,nssv1749273,nssv1749271,nssv1749299,nssv1749269,nssv1749306,nssv1749270,nssv1749307,nssv1749279,nssv1749305,nssv1749461,nssv1749275,nssv1749394,nssv1749287,nssv1749438,nssv1749286,nssv1750496,nssv1750618,nssv1749350,nssv1749290,nssv1749416,nssv1749285,nssv1750529,nssv1750651,nssv1749405,nssv1749276,nssv1750573,nssv1749283,nssv1750418,nssv1749304,nssv1750518,nssv1750673,nssv1749383,nssv1749308,nssv1750473,nssv1749296,nssv1749315,nssv1749291,nssv1749326,nssv1749298,nssv1749372,nssv1749282,nssv1749339,nssv1749297,nssv1750451,nssv1750596,nssv1750551,nssv1750640,nssv1749483,nssv1749294,nssv1750440,nssv1750629,nssv1750462,nssv1749274,nssv1749427,nssv1750662,nssv1749472,nssv1749280,nssv1750562,nssv1750607,nssv1749450,nssv1749281,nssv1750584,nssv1749293,nssv1749361,nssv1749284,nssv1750485,nssv1749292,nssv1750507,nssv1749268,nssv1750540,nssv1750695,nssv1750429,nssv1749272,nssv1749288,nssv1749302,nssv1749303,nssv1749301 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4533532 1 79210 79211 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026934 M 10847 1 0 "" nsv5984777 1 83788 83859 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533536 M 405 0 1 "" nsv5951367 1 83961 83961 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17374642 M 914 1 0 "" nsv1077274 1 83999 86600 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768323 M 1 1 0 "" KWP1 nsv5830519 1 86645 90107 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480874,nssv17480873,nssv17481847 M 914 0 0 "" nsv945702 1 88084 91317 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751749,nssv1751733,nssv1751748,nssv1751708,nssv1751740,nssv1750718,nssv1751758,nssv1751736,nssv1751760,nssv1751730,nssv1751770,nssv1751719,nssv1751768,nssv1751738,nssv1751762,nssv1751735,nssv1751767,nssv1751664,nssv1751755,nssv1750707,nssv1751769,nssv1751734,nssv1751764,nssv1751686,nssv1751752,nssv1751737,nssv1751739,nssv1751697,nssv1751745,nssv1751675,nssv1751750,nssv1751653,nssv1751771,nssv1751742,nssv1751741,nssv1751766,nssv1751772,nssv1751759,nssv1751747,nssv1751757,nssv1751744,nssv1751773,nssv1751761,nssv1751746,nssv1751756,nssv1751753,nssv1751763,nssv1751751 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv161172 1 88190 89153 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179750 M 24 "" nsv5985114 1 88684 88831 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521997 M 405 0 1 "" nsv5985213 1 88860 88933 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529763 M 405 0 1 "" nsv6047836 1 88889 88889 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536714 M 405 1 0 "" nsv3325309 1 90069 90069 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490620 M 14 1 0 "" NA19240 nsv3190022 1 90136 90195 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377288 M 9 0 0 "" NA19240 nsv3056442 1 90158 90158 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14026461 M 2 1 0 "" NA12878 nsv3325595 1 90179 90179 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472143 M 14 1 0 "" NA19434 nsv5605431 1 90258 90258 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066566 M 35 1 0 "" HG03371 nsv3325310 1 90259 90259 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482211,nssv14492017,nssv14489513,nssv14488477,nssv14474986,nssv14489823 M 14 6 0 "" HG02059,HG02106,HG02818,HX1,NA19240,NA19434 nsv6041207 1 90312 90312 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518552 M 405 1 0 "" nsv3172171 1 90407 90466 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413766,nssv14382401 M 9 0 0 "" HG00514,NA19240 nsv1126161 1 91000 92100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984388 M 2 0 1 "" KWS1 nsv945705 1 91317 93605 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2568839,nssv2571003,nssv2568030,nssv2570995,nssv2571122,nssv2571006,nssv2568831,nssv2571001,nssv2568846,nssv2571019,nssv2568842,nssv2571022,nssv2568034,nssv2570993,nssv2568830,nssv2571016,nssv2568832,nssv2571020,nssv2571100,nssv2571015,nssv2568845,nssv2571005,nssv2568031,nssv2571011,nssv2571043,nssv2571021,nssv2571076,nssv2571012,nssv2568840,nssv2571008,nssv2568844,nssv2571004,nssv2568838,nssv2571032,nssv2568835,nssv2571013,nssv2571087,nssv2570999,nssv2568035,nssv2570997,nssv2568843,nssv2571002,nssv2568836,nssv2571014,nssv2568036,nssv2570998,nssv2568033,nssv2571009,nssv2571054,nssv2571000,nssv2571111,nssv2571017,nssv2571065,nssv2571010,nssv2568834,nssv2570994,nssv2568841,nssv2568032,nssv2568833,nssv2568837 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945704 1 91317 125400 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751785,nssv1751829,nssv1751861,nssv1751850,nssv1751775,nssv1751841,nssv1751777,nssv1751836,nssv1751784,nssv1751824,nssv1751778,nssv1751822,nssv1751795,nssv1751827,nssv1751862,nssv1751838,nssv1751812,nssv1751818,nssv1751859,nssv1751826,nssv1751794,nssv1751840,nssv1751798,nssv1751846,nssv1751804,nssv1751823,nssv1751780,nssv1751848,nssv1751781,nssv1751831,nssv1751789,nssv1751845,nssv1751805,nssv1751849,nssv1751802,nssv1751834,nssv1751803,nssv1751842,nssv1751814,nssv1751828,nssv1751860,nssv1751847,nssv1751853,nssv1751830,nssv1751816,nssv1751819,nssv1751811,nssv1751833,nssv1751783,nssv1751817,nssv1751782,nssv1751839,nssv1751808,nssv1751837,nssv1751852,nssv1751844,nssv1751791,nssv1751825,nssv1751807,nssv1751835,nssv1751779,nssv1751820,nssv1751801,nssv1751851,nssv1751774,nssv1751793,nssv1751800,nssv1751797,nssv1751813,nssv1751786,nssv1751796,nssv1751856,nssv1751855,nssv1751815,nssv1751857,nssv1751792,nssv1751806,nssv1751809,nssv1751858,nssv1751790 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv4e59 1 91589 98387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3379005,esv3411984 M 185 2 0 "" NA19239,NA19240 nsv951073 1 93001 116200 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997314 M 1 1 0 "" BILGI_BIOE nsv945494 1 93605 95437 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2568868,nssv2568851,nssv2568866,nssv2568849,nssv2569010,nssv2568848,nssv2568900,nssv2568852,nssv2568955,nssv2568854,nssv2568889,nssv2568847,nssv2568863,nssv2568860,nssv2569076,nssv2568861,nssv2568966,nssv2568859,nssv2568922,nssv2568855,nssv2569978,nssv2568862,nssv2568878,nssv2568850,nssv2569131,nssv2568853,nssv2569087,nssv2568857,nssv2568933,nssv2568858,nssv2568865,nssv2568856,nssv2569054,nssv2570000,nssv2568988,nssv2568977,nssv2569098,nssv2568864,nssv2568944,nssv2569120,nssv2568999,nssv2569032,nssv2568867,nssv2568911,nssv2569065,nssv2569109,nssv2569043,nssv2569989,nssv2569021 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3436859 1 93889 96487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692418 M 185 1 0 "" NA19238 nsv4034659 1 94000 129400 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780869,nssv15780870,nssv15780874,nssv15780872,nssv15780873,nssv15780871,nssv15780875 M 10847 0 0 "" nsv6045570 1 95077 95077 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530454 M 405 1 0 "" nsv3326012 1 95078 95078 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491011,nssv14474187 M 14 2 0 "" CHM13,NA12878 nsv945495 1 95437 96652 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570099,nssv2571174,nssv2570088,nssv2570275,nssv2570077,nssv2571183,nssv2570055,nssv2571184,nssv2570176,nssv2571170,nssv2570154,nssv2571169,nssv2570143,nssv2571171,nssv2570011,nssv2571185,nssv2570165,nssv2571160,nssv2570110,nssv2571190,nssv2570132,nssv2570264,nssv2570044,nssv2571186,nssv2570121,nssv2571189,nssv2570022,nssv2571180,nssv2570066,nssv2570242,nssv2570033,nssv2570187,nssv2571172,nssv2571175,nssv2571179,nssv2571182,nssv2570209,nssv2570220,nssv2571173,nssv2571178,nssv2571187,nssv2571168,nssv2571181,nssv2571188,nssv2571176,nssv2570198,nssv2570231,nssv2570253,nssv2571177 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945496 1 96652 98749 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571196,nssv2571224,nssv2571198,nssv2571234,nssv2571191,nssv2571230,nssv2571193,nssv2571222,nssv2571195,nssv2571225,nssv2571200,nssv2571235,nssv2571206,nssv2571213,nssv2571192,nssv2571216,nssv2571205,nssv2571215,nssv2571194,nssv2571220,nssv2571203,nssv2571208,nssv2571202,nssv2571229,nssv2571207,nssv2571209,nssv2571197,nssv2571226,nssv2571199,nssv2571237,nssv2571204,nssv2571233,nssv2571201,nssv2571219,nssv2571217,nssv2571232,nssv2571210,nssv2571227,nssv2571228,nssv2571239,nssv2571212,nssv2571211,nssv2571238,nssv2571223,nssv2571214,nssv2571218,nssv2571231,nssv2571236,nssv2571221 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945498 1 98749 105358 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571261,nssv2571246,nssv2571278,nssv2571243,nssv2571277,nssv2571248,nssv2571266,nssv2571255,nssv2571286,nssv2571249,nssv2571268,nssv2571247,nssv2571285,nssv2571252,nssv2571272,nssv2571241,nssv2571257,nssv2571251,nssv2571271,nssv2571254,nssv2571269,nssv2571256,nssv2571267,nssv2571253,nssv2571273,nssv2571245,nssv2571281,nssv2571250,nssv2571262,nssv2571242,nssv2571264,nssv2571244,nssv2571282,nssv2571275,nssv2571284,nssv2571259,nssv2571283,nssv2571287,nssv2571270,nssv2571279,nssv2571274,nssv2571276,nssv2571265,nssv2571263,nssv2571258,nssv2571288,nssv2571280,nssv2571260 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3431809 1 99689 100887 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692423 M 185 1 0 "" NA19240 nsv3319231 1 101801 126400 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14482668,nssv14490706,nssv14486373,nssv14476829,nssv14472400,nssv14481501,nssv14479654,nssv14476158,nssv14472044,nssv14482220,nssv14490775,nssv14485989,nssv14490726 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 dgv5e59 1 103089 105787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3329998,esv3336840 M 185 2 0 "" NA19239,NA19240 nsv945500 1 105358 120257 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571314,nssv2571305,nssv2571319,nssv2571292,nssv2571312,nssv2571302,nssv2571318,nssv2571297,nssv2571361,nssv2571291,nssv2571316,nssv2571299,nssv2571309,nssv2571300,nssv2571315,nssv2571295,nssv2571330,nssv2571290,nssv2571323,nssv2571298,nssv2571329,nssv2571303,nssv2571327,nssv2571293,nssv2571321,nssv2571301,nssv2571310,nssv2571294,nssv2571325,nssv2571304,nssv2571350,nssv2571296,nssv2571328,nssv2571339,nssv2571320,nssv2571333,nssv2571308,nssv2571317,nssv2571313,nssv2571306,nssv2571372,nssv2571332,nssv2571326,nssv2571331,nssv2571307,nssv2571324,nssv2571311,nssv2571322 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1076308 1 106699 119600 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3767989 M 1 1 0 "" KWP1 dgv6e59 1 106789 109187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3349278,esv3427619 M 185 2 0 "" NA19238,NA19239 esv3441565 1 106789 111287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692436 M 185 1 0 "" NA19240 nsv1128580 1 106800 112800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960491 M 2 1 0 "" KWS1 esv3335040 1 109889 111187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692439 M 185 1 0 "" NA19239 nsv1141123 1 116700 118900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3992630 M 2 1 0 "" KWS2 nsv945503 1 120257 124525 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572483,nssv2571394,nssv2572560,nssv2571438,nssv2573671,nssv2571416,nssv2572659,nssv2571427,nssv2572637,nssv2571460,nssv2573748,nssv2572417,nssv2572670,nssv2572472,nssv2573726,nssv2572395,nssv2572516,nssv2572461,nssv2572505,nssv2572439,nssv2572593,nssv2572406,nssv2573660,nssv2572450,nssv2572494,nssv2571449,nssv2572626,nssv2572428,nssv2572604,nssv2573770,nssv2573693,nssv2571405,nssv2572615,nssv2573704,nssv2572692,nssv2573759,nssv2572549,nssv2573682,nssv2572648,nssv2573715,nssv2572681,nssv2572538,nssv2573737,nssv2572582,nssv2573638,nssv2572571,nssv2572527,nssv2573627,nssv2573649 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv2n54 1 121042 137674 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544871,nsv544872 M 17421 0 2 LOC729737 nsv544873 1 121042 170730 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707623 M 17421 1 0 LOC729737 nsv5618747 1 121117 121117 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060880 M 35 1 0 "" NA19239 nsv1118424 1 122200 125000 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958930 M 2 1 0 "" KWS1 nsv4039740 1 123350 140100 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780935,nssv15780938,nssv15780940,nssv15780939,nssv15780936,nssv15780941,nssv15780937 M 10847 0 0 LOC729737 nsv945707 1 125400 129243 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573786,nssv2573839,nssv2573793,nssv2573820,nssv2573792,nssv2573832,nssv2573785,nssv2573837,nssv2573861,nssv2573830,nssv2573784,nssv2573851,nssv2573797,nssv2573844,nssv2573813,nssv2573833,nssv2573817,nssv2573828,nssv2573856,nssv2573845,nssv2573815,nssv2573824,nssv2573809,nssv2573843,nssv2573805,nssv2573827,nssv2573801,nssv2573846,nssv2573806,nssv2573821,nssv2573812,nssv2573850,nssv2573802,nssv2573829,nssv2573818,nssv2573834,nssv2573789,nssv2573835,nssv2573804,nssv2573826,nssv2573860,nssv2573841,nssv2573787,nssv2573847,nssv2573791,nssv2573836,nssv2573858,nssv2573842,nssv2573808,nssv2573852,nssv2573857,nssv2573840,nssv2573798,nssv2573825,nssv2573800,nssv2573823,nssv2573795,nssv2573831,nssv2573859,nssv2573848,nssv2573810,nssv2573822,nssv2573863,nssv2573838,nssv2573790,nssv2573849,nssv2573781,nssv2573853,nssv2573796,nssv2573807,nssv2573794,nssv2573816,nssv2573854,nssv2573799,nssv2573803,nssv2573814,nssv2573855,nssv2573811,nssv2573819,nssv2573862,nssv2573788 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945706 1 125400 176984 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751511,nssv1752920,nssv1751866,nssv1751479,nssv1751874,nssv1752953,nssv1751867,nssv1751496,nssv1751864,nssv1751481,nssv1751873,nssv1751520,nssv1751889,nssv1751514,nssv1751879,nssv1751940,nssv1751510,nssv1751492,nssv1751869,nssv1751484,nssv1751509,nssv1752887,nssv1751881,nssv1751497,nssv1751863,nssv1751489,nssv1751883,nssv1752898,nssv1751894,nssv1751502,nssv1751870,nssv1751487,nssv1751868,nssv1751490,nssv1751891,nssv1751586,nssv1751871,nssv1752942,nssv1751896,nssv1751499,nssv1751872,nssv1751483,nssv1751888,nssv1751918,nssv1751902,nssv1751491,nssv1751903,nssv1751498,nssv1751507,nssv1751478,nssv1751890,nssv1751951,nssv1751892,nssv1751531,nssv1751505,nssv1751476,nssv1751893,nssv1751501,nssv1751503,nssv1751597,nssv1751907,nssv1751495,nssv1751504,nssv1751542,nssv1751901,nssv1751485,nssv1751900,nssv1751488,nssv1751880,nssv1751482,nssv1751884,nssv1751575,nssv1751877,nssv1752931,nssv1751875,nssv1751486,nssv1751506,nssv1752964,nssv1751885,nssv1751929,nssv1751508,nssv1751500,nssv1751882,nssv1751480,nssv1751897,nssv1751553,nssv1751878,nssv1751477,nssv1751895,nssv1751513,nssv1751904,nssv1751493,nssv1751886,nssv1751564,nssv1751512,nssv1751494,nssv1752909 M 97 10 0 LOC729737 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1139463 1 126200 128500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977050 M 2 1 0 "" KWS2 nsv5576759 1 126241 164870 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060919 M 35 0 1 LOC729737 HG03009 nsv945504 1 129243 133502 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573868,nssv2573921,nssv2573884,nssv2574855,nssv2573896,nssv2573910,nssv2574865,nssv2573901,nssv2573888,nssv2574857,nssv2574861,nssv2573911,nssv2573894,nssv2573906,nssv2573899,nssv2573913,nssv2573886,nssv2573915,nssv2573877,nssv2573912,nssv2574867,nssv2573925,nssv2573897,nssv2573924,nssv2573878,nssv2573916,nssv2573869,nssv2574856,nssv2573885,nssv2573918,nssv2573872,nssv2573926,nssv2573881,nssv2573905,nssv2574858,nssv2574854,nssv2574863,nssv2573904,nssv2574860,nssv2573907,nssv2573890,nssv2573909,nssv2573889,nssv2573919,nssv2573871,nssv2573917,nssv2573879,nssv2573914,nssv2573864,nssv2573902,nssv2573875,nssv2574852,nssv2573876,nssv2573903,nssv2574864,nssv2573922,nssv2573870,nssv2573920,nssv2574859,nssv2573927,nssv2573882,nssv2573923,nssv2573891,nssv2573908,nssv2573900,nssv2574853,nssv2573895,nssv2573874,nssv2573880,nssv2573866,nssv2574862,nssv2573867,nssv2573883,nssv2574866,nssv2573887,nssv2573873,nssv2573892,nssv2573865,nssv2573893,nssv2573898 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1149021 1 130299 144500 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997807 M 1 1 0 LOC729737 KWB1 nsv3215982 1 132349 142869 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14269924,nssv14269923,nssv14269922 M 9 3 0 LOC729737 HG00514,HG00731,NA19240 nsv1124554 1 135100 148500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976608 M 2 1 0 LOC729737 KWS2 nsv3534280 1 135720 135720 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413767,nssv14373294 M 9 2 0 LOC729737 HG00514,NA19240 nsv6327888 1 136001 139900 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200112 M 19652 1 0 LOC729737 esv991724 1 136181 137326 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586083 M 3 0 1 LOC729737 HuRef nsv3319209 1 136212 136308 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473596 M 14 0 1 LOC729737 NA19240 nsv3189315 1 136212 136309 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384859 M 9 0 0 LOC729737 NA19240 nsv6041511 1 136253 136253 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524982 M 405 1 0 LOC729737 esv3357639 1 136289 137487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691773 M 185 1 0 LOC729737 NA19240 nsv5980833 1 136349 137272 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536815 M 405 0 1 LOC729737 nsv3280806 1 136461 136580 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439096 M 9 0 1 LOC729737 HG00733 nsv6050273 1 136544 136544 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531398 M 405 1 0 LOC729737 nsv5567941 1 136713 136833 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060197 M 35 0 1 LOC729737 NA19239 nsv3281186 1 136788 137221 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14449595 M 9 0 1 LOC729737 HG00733 nsv5606346 1 136789 136789 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060199 M 35 1 0 LOC729737 HG00512 nsv1075360 1 136799 142500 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762893 M 1 1 0 LOC729737 KWP1 nsv3943649 1 136934 136934 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15184715 M 1 1 0 LOC729737 HG002 nsv3542157 1 136959 136959 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384081 M 9 1 0 LOC729737 NA19240 nsv6048513 1 136988 136988 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523296 M 405 1 0 LOC729737 dgv1n166 1 137000 155500 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4045105,nsv4048721 M 10847 2 0 LOC729737 nsv3537298 1 137085 137085 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413768 M 9 1 0 LOC729737 HG00514 nsv3179418 1 137221 137339 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440455 M 9 0 0 LOC729737 HG00733 nsv6060008 1 137242 137242 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537392 M 405 1 0 LOC729737 nsv3215117 1 137901 142869 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14270315,nssv14270314,nssv14270316 M 9 3 0 LOC729737 HG00514,HG00733,NA19240 nsv3177862 1 140141 143548 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440457 M 9 0 0 LOC729737 HG00733 esv3672488 1 156280 157332 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494442 M 20 0 0 "" nsv6045261 1 157348 157348 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529298 M 405 1 0 "" nsv1115325 1 164000 168200 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976377 M 2 1 0 "" KWS2 nsv6138288 1 167950 173000 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905659 M 3202 1 0 "" nsv6055353 1 174834 174834 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522084 M 405 1 0 "" nsv8990 1 176262 177360 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv14779 M 31 0 1 "" NA18572 nsv945708 1 227418 235991 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753635,nssv1753511,nssv1753666,nssv1752543,nssv1753634,nssv1752532,nssv1753670,nssv1752477,nssv1753672,nssv2575114,nssv1753646,nssv2575116,nssv1753648,nssv2575119,nssv1753651,nssv1752488,nssv1753649,nssv1752433,nssv1753566,nssv1752411,nssv1753627,nssv1753500,nssv1753624,nssv2575115,nssv1753610,nssv1752290,nssv1753636,nssv1753544,nssv1753647,nssv1753656,nssv1753671,nssv1752455,nssv1753630,nssv2575118,nssv1753641,nssv1752356,nssv1753623,nssv1752312,nssv1753675,nssv1752444,nssv1753654,nssv1753662,nssv1753642,nssv1753522,nssv1753674,nssv1752301,nssv1753640,nssv1753665,nssv1753632,nssv1752389,nssv1753668,nssv1752510,nssv1753639,nssv1752521,nssv1753637,nssv2575111,nssv1753643,nssv1753658,nssv1753673,nssv1752367,nssv1753645,nssv1752422,nssv1753599,nssv1753660,nssv1753652,nssv2575112,nssv1753655,nssv1752554,nssv1753669,nssv1752378,nssv1753625,nssv1752466,nssv1753588,nssv1753555,nssv1753626,nssv1753533,nssv1753650,nssv1753659,nssv1753644,nssv1751608,nssv1753629,nssv1752499,nssv1753577,nssv1752400,nssv1753638,nssv1753663,nssv1753621,nssv2575110,nssv1753667,nssv1752565,nssv1753653,nssv2575120,nssv1753633,nssv1752345,nssv1753631,nssv1752279,nssv1753628,nssv2575113,nssv1753664,nssv2575117,nssv1752334,nssv1753661,nssv1751630,nssv1753657,nssv1751619,nssv1752268,nssv1752323,nssv1751641 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3324117 1 227467 227467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480381,nssv14489031 M 14 2 0 "" HG00268,HG02106 nsv1115326 1 227500 252100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976378 M 2 1 0 "" KWS2 nsv5988695 1 227539 227631 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528776 M 405 0 1 "" nsv3374366 1 227541 227541 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14647116,nssv14634270 M 14 2 0 "" HG00514,HX1 nsv3323225 1 227554 227554 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487760 M 14 1 0 "" HG00268 nsv953122 1 227601 267200 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3001722 M 1 1 0 "" BILGI_BIOE dgv5142n152 1 227624 227729 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3177455,nsv3172280 M 9 0 0 "" HG00514,NA19240 nsv3359025 1 227629 227629 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14638938,nssv14639662,nssv14635879,nssv14650869 M 14 4 0 "" HG02818,HG04217,NA12878,NA19434 nsv2807436 1 227645 227645 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684811 M 2 1 0 "" nsv6053144 1 227679 227679 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536642 M 405 1 0 "" nsv3542620 1 227701 227701 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14421534 M 9 1 0 "" HG00514 nsv3377997 1 227707 227707 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14649899,nssv14649146,nssv14640347,nssv14635525,nssv14633869,nssv14649188,nssv14638609,nssv14647112,nssv14644974 M 14 9 0 "" HG00268,HG00514,HG00733,HG01352,HG02059,HG04217,HX1,NA19240,NA19434 nsv2806496 1 227708 227708 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681289,nssv13689425 M 2 2 0 "" nsv3323425 1 227746 227746 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487445 M 14 1 0 "" HG00268 nsv4033012 1 227750 259300 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781042,nssv15781045,nssv15781043,nssv15781044,nssv15781046,nssv15781041,nssv15781047,nssv15781048 M 10847 0 0 "" nsv6058368 1 227788 227788 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527021 M 405 1 0 "" dgv4n100 1 228694 888659 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005920,nsv1010877,nsv998987,nsv998917,nsv1000603,nsv1000176 M 11257 8 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417,LOC100132062,LOC100132287,LOC100133331,LOC100288069,MIR6723,NOC2L,OR4F16,OR4F29,OR4F3,SAMD11 nsv5988610 1 229098 229185 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518504 M 405 0 1 "" dgv7e59 1 229889 238787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3432331,esv3413313,esv3431827 M 185 3 0 "" NA12878,NA19239,NA19240 nsv1147595 1 230099 264900 CNV duplication John_et_al_2014 26484159 Sequencing nssv3996382 M 1 1 0 "" KWB1 esv3337205 1 231089 235687 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692128 M 185 1 0 "" NA12892 nsv1110124 1 231100 267600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3959389 M 2 1 0 "" KWS1 nsv5423684 1 231417 257417 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907125 M 3202 0 0 "" nsv1077275 1 233499 237900 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3766129 M 1 1 0 "" KWP1 nsv3324123 1 233910 235330 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473582 M 14 0 1 "" NA19434 nsv945509 1 235991 239416 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2574765,nssv2575130,nssv2574764,nssv2575125,nssv2574777,nssv2575127,nssv2574776,nssv2575124,nssv2574786,nssv2575126,nssv2574787,nssv2574762,nssv2574766,nssv2575123,nssv2574772,nssv2574761,nssv2574781,nssv2575132,nssv2574779,nssv2574758,nssv2574791,nssv2575131,nssv2574784,nssv2575128,nssv2574794,nssv2575122,nssv2574774,nssv2574759,nssv2574785,nssv2575129,nssv2574773,nssv2574760,nssv2574769,nssv2574788,nssv2574780,nssv2574771,nssv2574768,nssv2574775,nssv2574767,nssv2574770,nssv2574783,nssv2574782,nssv2574792,nssv2574778,nssv2574763,nssv2574793,nssv2574790,nssv2574789 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3323745 1 236052 260151 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14488253,nssv14476960,nssv14474755,nssv14485551,nssv14480401,nssv14490906,nssv14474057,nssv14489837,nssv14475744,nssv14481036,nssv14473593 M 14 11 0 "" HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv945710 1 239416 241557 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2574804,nssv2574805,nssv2574797,nssv2574796,nssv2574802,nssv2574798,nssv2574795,nssv2574801,nssv2574799,nssv2574803,nssv2574800 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945709 1 239416 267719 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753730,nssv1753686,nssv1754434,nssv1753678,nssv1753752,nssv1753679,nssv1754511,nssv1754654,nssv1754489,nssv1753685,nssv1753723,nssv1753677,nssv1754522,nssv1753696,nssv1753719,nssv1754632,nssv1754445,nssv1753709,nssv1754555,nssv1753704,nssv1754544,nssv1753708,nssv1753725,nssv1754566,nssv1753716,nssv1753690,nssv1754500,nssv1753703,nssv1754533,nssv1754577,nssv1753721,nssv1753699,nssv1753774,nssv1753713,nssv1753715,nssv1753680,nssv1753724,nssv1753697,nssv1753714,nssv1753689,nssv1754456,nssv1753684,nssv1753722,nssv1753688,nssv1753796,nssv1754621,nssv1753785,nssv1754588,nssv1754423,nssv1753692,nssv1753718,nssv1753705,nssv1754478,nssv1753712,nssv1753741,nssv1753695,nssv1753717,nssv1754665,nssv1753720,nssv1753683,nssv1754467,nssv1753701,nssv1753763,nssv1753681,nssv1754610,nssv1753682,nssv1754599,nssv1753687,nssv1753702,nssv1753694,nssv1753676,nssv1753691,nssv1753698,nssv1753710,nssv1753711,nssv1754643,nssv1753693,nssv1753700,nssv1753706,nssv1753707 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3424705 1 241289 243587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692166 M 185 1 0 "" NA19240 nsv945510 1 241557 243899 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2574811,nssv2574832,nssv2574814,nssv2574833,nssv2574807,nssv2575751,nssv2574808,nssv2574843,nssv2574819,nssv2574834,nssv2574817,nssv2575750,nssv2574816,nssv2574836,nssv2574813,nssv2574837,nssv2574821,nssv2574844,nssv2574822,nssv2574847,nssv2574809,nssv2574824,nssv2574818,nssv2574835,nssv2574820,nssv2574829,nssv2574810,nssv2574848,nssv2574815,nssv2574839,nssv2574812,nssv2574825,nssv2574850,nssv2574826,nssv2574841,nssv2574828,nssv2574849,nssv2575749,nssv2574842,nssv2574840,nssv2574830,nssv2574838,nssv2574831,nssv2574823,nssv2574845,nssv2574846,nssv2574827,nssv2574851 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5983509 1 242939 245018 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531515 M 405 0 1 "" nsv3323526 1 242940 245018 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487849,nssv14488543,nssv14488834 M 14 0 3 "" HG02818,NA19240,NA19434 nsv945513 1 243899 244733 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575754,nssv2575779,nssv2575764,nssv2575787,nssv2575765,nssv2575800,nssv2575763,nssv2575786,nssv2575767,nssv2575772,nssv2575766,nssv2575777,nssv2575756,nssv2575789,nssv2575757,nssv2575773,nssv2575761,nssv2575799,nssv2575762,nssv2575778,nssv2575755,nssv2575794,nssv2575758,nssv2575775,nssv2575759,nssv2575783,nssv2575760,nssv2575781,nssv2575801,nssv2575771,nssv2575753,nssv2575774,nssv2575782,nssv2575768,nssv2575790,nssv2575784,nssv2575780,nssv2575788,nssv2575792,nssv2575797,nssv2575785,nssv2575793,nssv2575769,nssv2575796,nssv2575791,nssv2575795,nssv2575770,nssv2575798,nssv2575776 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4044683 1 243916 244232 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855340 M 10847 0 1 "" nsv945514 1 244733 245785 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2575816,nssv2575827,nssv2575810,nssv2575824,nssv2575812,nssv2575846,nssv2575803,nssv2575817,nssv2575805,nssv2575828,nssv2575807,nssv2575830,nssv2575813,nssv2575844,nssv2575808,nssv2575821,nssv2575806,nssv2575836,nssv2575814,nssv2575831,nssv2575809,nssv2575835,nssv2575815,nssv2575843,nssv2575802,nssv2575820,nssv2575804,nssv2575848,nssv2575811,nssv2575839,nssv2575849,nssv2575838,nssv2575834,nssv2575823,nssv2575841,nssv2575847,nssv2575825,nssv2575818,nssv2575819,nssv2575829,nssv2575845,nssv2575822,nssv2575837,nssv2575842,nssv2575832,nssv2575826,nssv2575833,nssv2575840 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3352725 1 244989 247187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692188 M 185 1 0 "" NA19239 esv3390070 1 245689 247287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692193 M 185 1 0 "" NA19240 nsv945516 1 245785 258070 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569139,nssv2575859,nssv2575878,nssv2575851,nssv2568300,nssv2575862,nssv2568294,nssv2575856,nssv2575879,nssv2575852,nssv2569138,nssv2575858,nssv2568291,nssv2575865,nssv2575882,nssv2575855,nssv2575868,nssv2575861,nssv2575867,nssv2575864,nssv2568299,nssv2575860,nssv2569140,nssv2575863,nssv2568295,nssv2575854,nssv2575871,nssv2575853,nssv2568298,nssv2575857,nssv2575881,nssv2575883,nssv2575869,nssv2575874,nssv2568296,nssv2568297,nssv2575870,nssv2575866,nssv2575876,nssv2568292,nssv2575875,nssv2575880,nssv2575877,nssv2568301,nssv2575872,nssv2568293,nssv2569141,nssv2575873 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3416780 1 249489 251587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692195 M 185 1 0 "" NA19239 esv3413391 1 249489 254187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692196 M 185 1 0 "" NA19240 esv3347825 1 250289 251587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692199 M 185 1 0 "" NA19238 esv3381085 1 252089 255387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692200 M 185 1 0 "" NA19239 esv3405973 1 252189 254087 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692201 M 185 1 0 "" NA19238 nsv945517 1 258070 267719 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569147,nssv2569180,nssv2569151,nssv2569163,nssv2569148,nssv2569186,nssv2569150,nssv2569171,nssv2569146,nssv2569175,nssv2569156,nssv2569161,nssv2569144,nssv2569190,nssv2569152,nssv2569164,nssv2569153,nssv2569174,nssv2569145,nssv2569168,nssv2569154,nssv2569159,nssv2569149,nssv2569182,nssv2569155,nssv2569185,nssv2569157,nssv2569189,nssv2569143,nssv2569178,nssv2569142,nssv2569179,nssv2569181,nssv2569158,nssv2569177,nssv2569167,nssv2569187,nssv2569170,nssv2569184,nssv2569160,nssv2569169,nssv2569166,nssv2569162,nssv2569172,nssv2569173,nssv2569183,nssv2569176,nssv2569165,nssv2569188 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945712 1 317720 337700 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756010,nssv1756038,nssv1756022,nssv1755987,nssv1755999,nssv1755913,nssv1756004,nssv1756029,nssv1756001,nssv1755957,nssv1756003,nssv1755979,nssv1755994,nssv1755924,nssv1755991,nssv1754720,nssv1756025,nssv1755988,nssv1755990,nssv1755891,nssv1756014,nssv1755975,nssv1756019,nssv1755976,nssv1756011,nssv1755977,nssv1756045,nssv1755792,nssv1756021,nssv1756032,nssv1755996,nssv1755978,nssv1756043,nssv1755880,nssv1756042,nssv1754676,nssv1755997,nssv1755983,nssv1756040,nssv1755825,nssv1756026,nssv1755989,nssv1756048,nssv1755985,nssv1756000,nssv1756031,nssv1756044,nssv1755935,nssv1755992,nssv1755980,nssv1755995,nssv1756030,nssv1756015,nssv1755869,nssv1755993,nssv1755946,nssv1756017,nssv1755814,nssv1756020,nssv1756035,nssv1756008,nssv1755858,nssv1756007,nssv1755982,nssv1756016,nssv1755803,nssv1756023,nssv1756034,nssv1756046,nssv1755986,nssv1755998,nssv1755981,nssv1756009,nssv1755968,nssv1756013,nssv1756033,nssv1756039,nssv1755974,nssv1756006,nssv1756036,nssv1756027,nssv1755984,nssv1756047,nssv1755902,nssv1756041,nssv1754709,nssv1756002,nssv1756037,nssv1756012,nssv1755847,nssv1756005,nssv1755836,nssv1756018,nssv1754698,nssv1756028,nssv1754687,nssv1756024 M 97 10 0 LOC100132062,LOC100132287,LOC100133331 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv428223 1 317720 471368 CNV gain+loss Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv450575,nssv450686 M 62 1 1 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 HGDP00984,NA18498 esv27883 1 317770 471337 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv15785,esv20387,esv15703,esv20401,esv13800,esv14573,esv10639,esv13367,esv17876,esv16611,esv9873 M 40 13 17 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA11894,NA11993,NA12006,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19190,NA19225 nsv829647 1 317874 425175 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1443739,nssv1450405,nssv1442628,nssv1444850,nssv1441517,nssv1441518,nssv1445961,nssv1441629,nssv1447072,nssv1449294,nssv1448183 M 95 1 10 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 nsv1149141 1 318099 326800 CNV duplication John_et_al_2014 26484159 Sequencing nssv4002651 M 1 1 0 LOC100132062,LOC100132287,LOC100133331 KWB1 nsv471518 1 318139 470924 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv547888,nssv547887,nssv547890 M 3 3 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 JDW,NA18507,YH nsv1115327 1 318300 326500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976379 M 2 1 0 LOC100132062,LOC100132287,LOC100133331 KWS2 nsv4049200 1 320000 327650 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856828 M 10847 0 1 LOC100132062,LOC100132287,LOC100133331 dgv1n14 1 321799 466601 CNV gain Cooper_et_al_2008 18776910 SNP array nsv433345,nsv433344,nsv433342 M 9 3 0 LOC100132062,LOC100132287,LOC100133331,OR4F16,OR4F29,OR4F3 NA12156,NA18555,NA19240 nsv953187 1 324101 332200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003052 M 1 0 1 LOC100132062,LOC100132287,LOC100133331 BILGI_BIOE nsv945519 1 331680 334089 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569301,nssv2569240,nssv2569233,nssv2569294,nssv2569225,nssv2569247,nssv2569232,nssv2569241,nssv2569226,nssv2569223,nssv2569224,nssv2569296,nssv2569287,nssv2569299,nssv2569269,nssv2569245,nssv2569286,nssv2569250,nssv2569261,nssv2569230,nssv2569283,nssv2569300,nssv2569282,nssv2569293,nssv2569292,nssv2569242,nssv2569268,nssv2569251,nssv2569278,nssv2569243,nssv2569291,nssv2569253,nssv2569270,nssv2569295,nssv2569285,nssv2569257,nssv2569263,nssv2569229,nssv2569288,nssv2569249,nssv2569284,nssv2569260,nssv2569290,nssv2569246,nssv2569279,nssv2569238,nssv2569281,nssv2569255,nssv2569264,nssv2569302,nssv2569274,nssv2569231,nssv2569266,nssv2569254,nssv2569275,nssv2569252,nssv2569265,nssv2569236,nssv2569267,nssv2569235,nssv2569271,nssv2569258,nssv2569289,nssv2569297,nssv2569280,nssv2569248,nssv2569262,nssv2569298,nssv2569273,nssv2569259,nssv2569277,nssv2569227,nssv2569272,nssv2569256,nssv2569276,nssv2569234,nssv2569237,nssv2569228,nssv2569239,nssv2569244 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945520 1 334089 337700 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569355,nssv2569326,nssv2569347,nssv2569330,nssv2569345,nssv2569332,nssv2569365,nssv2569337,nssv2569371,nssv2569310,nssv2569350,nssv2569322,nssv2569366,nssv2569304,nssv2569353,nssv2569311,nssv2569358,nssv2569320,nssv2569367,nssv2569340,nssv2569352,nssv2569374,nssv2569363,nssv2569378,nssv2569343,nssv2569317,nssv2569359,nssv2569336,nssv2569354,nssv2569316,nssv2569373,nssv2569333,nssv2569341,nssv2569331,nssv2569370,nssv2569381,nssv2569351,nssv2569329,nssv2569372,nssv2569324,nssv2569360,nssv2569318,nssv2569362,nssv2569376,nssv2569369,nssv2569312,nssv2569357,nssv2569338,nssv2569346,nssv2569327,nssv2569344,nssv2569328,nssv2569356,nssv2569334,nssv2569361,nssv2569375,nssv2569364,nssv2569308,nssv2569342,nssv2569323,nssv2569368,nssv2569325,nssv2569349,nssv2569309,nssv2569348,nssv2569383,nssv2569314,nssv2569380,nssv2569382,nssv2569339,nssv2569307,nssv2569379,nssv2569313,nssv2569315,nssv2569306,nssv2569377,nssv2569305,nssv2569321,nssv2569319,nssv2569335,nssv2569303 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945713 1 337700 352306 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756052,nssv1756416,nssv1756059,nssv1756091,nssv1756058,nssv1756407,nssv1756435,nssv1756411,nssv1756051,nssv1756406,nssv1756050,nssv1756425,nssv1756055,nssv1756409,nssv1756429,nssv1756403,nssv1756432,nssv1756402,nssv1756081,nssv1756404,nssv1756430,nssv1756426,nssv1756068,nssv1756423,nssv1756433,nssv1756410,nssv1756073,nssv1756089,nssv1756086,nssv1756417,nssv1756079,nssv1756092,nssv1756083,nssv1756087,nssv1756084,nssv1756088,nssv1756428,nssv1756412,nssv1756085,nssv1756420,nssv1756049,nssv1756424,nssv1756082,nssv1756408,nssv1756061,nssv1756401,nssv1756431,nssv1756415,nssv1756077,nssv1756422,nssv1756075,nssv1756419,nssv1756070,nssv1756405,nssv1756057,nssv1756414,nssv1756071,nssv1756421,nssv1756076,nssv1756090,nssv1756067,nssv1756418,nssv1756066,nssv1756413,nssv1756062,nssv1756060,nssv1756056,nssv1756053,nssv1756072,nssv1756080,nssv1756074,nssv1756054,nssv1756427,nssv1756434,nssv1756065,nssv1756064,nssv1756069,nssv1756436,nssv1756078,nssv1756063 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945521 1 340358 342662 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569419,nssv2569386,nssv2569416,nssv2569388,nssv2569425,nssv2569398,nssv2569407,nssv2569391,nssv2569406,nssv2569432,nssv2569418,nssv2569384,nssv2569415,nssv2569385,nssv2569427,nssv2569392,nssv2569424,nssv2569393,nssv2569411,nssv2569387,nssv2569431,nssv2569389,nssv2569428,nssv2569396,nssv2569430,nssv2569390,nssv2569429,nssv2569394,nssv2569414,nssv2569397,nssv2569423,nssv2569395,nssv2569422,nssv2569421,nssv2569403,nssv2569412,nssv2569408,nssv2569417,nssv2569402,nssv2569410,nssv2569413,nssv2569420,nssv2569399,nssv2569400,nssv2569409,nssv2569426,nssv2569401,nssv2569405,nssv2569404 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945524 1 342662 343162 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570523,nssv2569436,nssv2570522,nssv2569442,nssv2570535,nssv2570551,nssv2570526,nssv2569439,nssv2570527,nssv2569437,nssv2570529,nssv2569445,nssv2570531,nssv2569438,nssv2570530,nssv2569441,nssv2570537,nssv2570550,nssv2570532,nssv2569444,nssv2570565,nssv2569433,nssv2570562,nssv2569440,nssv2570536,nssv2569434,nssv2570561,nssv2569443,nssv2570528,nssv2569435,nssv2570557,nssv2570524,nssv2570538,nssv2570564,nssv2570556,nssv2570563,nssv2570553,nssv2570554,nssv2570555,nssv2570533,nssv2570525,nssv2570559,nssv2570552,nssv2570534,nssv2570566,nssv2570558,nssv2570567,nssv2570560 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945525 1 343162 352306 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571469,nssv2571497,nssv2571467,nssv2571501,nssv2570546,nssv2571476,nssv2571465,nssv2571499,nssv2570541,nssv2571487,nssv2570543,nssv2571481,nssv2570544,nssv2571471,nssv2570545,nssv2571494,nssv2570540,nssv2571470,nssv2571464,nssv2571474,nssv2570542,nssv2571483,nssv2570547,nssv2571485,nssv2571468,nssv2571486,nssv2571466,nssv2571479,nssv2570548,nssv2571489,nssv2570549,nssv2571473,nssv2571472,nssv2571478,nssv2571495,nssv2571480,nssv2571490,nssv2571496,nssv2571484,nssv2571500,nssv2571475,nssv2571492,nssv2571477,nssv2571498,nssv2571488,nssv2571493,nssv2571482,nssv2571491 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1150308 1 343299 364400 CNV duplication John_et_al_2014 26484159 Sequencing nssv4003607 M 1 1 0 "" KWB1 nsv10050 1 348092 641599 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv18095,nssv18114,nssv21447,nssv18094,nssv18118,nssv18111,nssv26896,nssv18105,nssv24620,nssv18104,nssv18102,nssv21433,nssv21441,nssv26902,nssv21443,nssv14767,nssv21439,nssv18092,nssv14769,nssv18100,nssv14765,nssv18112,nssv24618,nssv18115,nssv24595,nssv24612,nssv28054,nssv18110,nssv24604,nssv21435,nssv18116,nssv24614,nssv18119,nssv18107,nssv14778,nssv18098,nssv21449,nssv24594,nssv24597,nssv18096,nssv21424,nssv21450,nssv26886,nssv18120,nssv18109,nssv18106,nssv21426,nssv18101,nssv18121,nssv24606,nssv21446,nssv18099 M 31 8 30 MIR6723,OR4F16,OR4F29,OR4F3 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv1142733 1 352100 355600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994232 M 2 0 1 "" KWS1 nsv1074919 1 352299 363200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765719 M 1 0 1 "" KWP1 nsv945265 1 352306 371739 OTHER complex Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1679627,nssv1677642,nssv1679738,nssv1679705,nssv1682237,nssv1677753,nssv1756441,nssv1684709,nssv1756450,nssv1686360,nssv1756451,nssv1677641,nssv1679650,nssv1756480,nssv1756449,nssv1756463,nssv1756440,nssv1756476,nssv1679683,nssv1679605,nssv1679672,nssv1679739,nssv1677742,nssv1756455,nssv1677676,nssv1756479,nssv1756446,nssv1681956,nssv1756443,nssv1677927,nssv1677720,nssv1756474,nssv1756439,nssv1756456,nssv1683216,nssv1679727,nssv1679661,nssv1756466,nssv1756442,nssv1756477,nssv1679628,nssv1756465,nssv1756448,nssv1756483,nssv1756447,nssv1756469,nssv1679639,nssv1679594,nssv1677698,nssv1756457,nssv1679616,nssv1756464,nssv1679694,nssv1679073,nssv1677754,nssv1682178,nssv1677709,nssv1680921,nssv1677687,nssv1756467,nssv1677731,nssv1756452,nssv1677765,nssv1756453,nssv1679716,nssv1756478,nssv1677665,nssv1756471,nssv1677643,nssv1678962,nssv1684698,nssv1756459,nssv1756438,nssv1756461,nssv1756445,nssv1679492,nssv1756444,nssv1756462,nssv1756437,nssv1756475,nssv1677654,nssv1756484,nssv1677816,nssv1756460,nssv1679750,nssv1756481,nssv1682067,nssv1679775,nssv1756482,nssv1756468,nssv1756470,nssv1756458,nssv1756473,nssv1680810,nssv1756454,nssv1679761,nssv1756472 M 97 10 0 OR4F16,OR4F29,OR4F3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4051827 1 354000 359000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845703 M 10847 0 1 "" dgv5n100 1 356431 1049804 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002919,nsv1008043 M 11257 2 0 AGRN,C1orf159,C1orf170,FAM41C,FAM87B,HES4,ISG15,KLHL17,LINC00115,LINC01128,LOC100130417,LOC100133331,LOC100288069,MIR6723,NOC2L,OR4F16,OR4F29,OR4F3,PLEKHN1,RNF223,SAMD11 nsv1142734 1 361500 363300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994233 M 2 0 1 "" KWS1 nsv4050917 1 364000 401750 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847505 M 10847 0 1 OR4F16,OR4F29,OR4F3 nsv1126162 1 366400 384400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984389 M 2 0 1 OR4F16,OR4F29,OR4F3 KWS1 nsv514924 1 367049 368179 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2859989,nssv2864408,nssv2864064,nssv2863369,nssv2864997,nssv2866598,nssv2864149,nssv2861018,nssv2862600,nssv2864057,nssv2867598,nssv2861045,nssv2862220,nssv2862673,nssv2861022,nssv2860415,nssv2861881,nssv2858819,nssv2861944,nssv2864615,nssv2866126,nssv2864960,nssv2866645,nssv2862985,nssv2862417,nssv2866422,nssv2860934,nssv2862759,nssv2861583,nssv2867689,nssv2867752,nssv2858945,nssv2868474,nssv2867749,nssv2864719,nssv2865996,nssv2866517,nssv2865173,nssv2860621,nssv2863873,nssv2867757,nssv2867390,nssv2859275,nssv2859368,nssv2858843,nssv2862685,nssv2865338,nssv2862168,nssv2862147,nssv2864045,nssv2867973,nssv2864160,nssv2861377,nssv2866104,nssv2867490,nssv2867206,nssv2865200,nssv2860896,nssv2863508,nssv2862208,nssv2861053,nssv2866575,nssv2861002,nssv2863643,nssv2864179,nssv2861639,nssv2866581,nssv2864103,nssv2866970,nssv2864758,nssv2861593,nssv2863335,nssv2859078,nssv2862117,nssv2863885,nssv2867250,nssv2859917,nssv2858659,nssv2867293,nssv2860916,nssv2862123,nssv2860871,nssv2867457,nssv2864598,nssv2866478,nssv2867947,nssv2862765,nssv2866687,nssv2862953,nssv2865550,nssv2862927,nssv2865956,nssv2862009,nssv2864316,nssv2866556,nssv2858909,nssv2862828,nssv2863812,nssv2865435,nssv2868361,nssv2862194,nssv2864260,nssv2866548,nssv2864990,nssv2864941,nssv2863561,nssv2859221,nssv2866971,nssv2862035,nssv2865057,nssv2862469,nssv2867595,nssv2858648,nssv2858631,nssv2865195,nssv2866867,nssv2860240,nssv2866668,nssv2859402,nssv2861542,nssv2863532,nssv2859557,nssv2864280,nssv2862754,nssv2862541,nssv2866973,nssv2868309,nssv2863170,nssv2862314,nssv2860354,nssv2865277,nssv2868492,nssv2867661,nssv2861430,nssv2866175,nssv2860753,nssv2864353,nssv2860775,nssv2866856,nssv2861438,nssv2866982,nssv2868253,nssv2868158,nssv2858824,nssv2863731,nssv2861599,nssv2858963,nssv2867103,nssv2860428,nssv2864957,nssv2866251,nssv2863346,nssv2864567,nssv2865583,nssv2859498,nssv2865606,nssv2863949,nssv2863615,nssv2868031,nssv2858723,nssv2864400,nssv2865836,nssv2861967,nssv2865079,nssv2866662,nssv2868103,nssv2862722,nssv2867072,nssv2858495,nssv2858950,nssv2859521,nssv2865946,nssv2859791,nssv2862976,nssv2862512,nssv2863452,nssv2866779,nssv2864777,nssv2864388,nssv2868006,nssv2864885,nssv2864578,nssv2868339,nssv2860480,nssv2868231,nssv2863224,nssv2862420,nssv2860554,nssv2861953,nssv2860674,nssv2862431,nssv2862897,nssv2867303,nssv2861413,nssv2865553,nssv2868325,nssv2859168,nssv2863759,nssv2865396,nssv2866048,nssv2861157,nssv2863997,nssv2862565,nssv2859457,nssv2860657,nssv2859401,nssv2866264,nssv2865808,nssv2861299,nssv2864018,nssv2860347,nssv2862815,nssv2861737,nssv2864967,nssv2862379,nssv2859623,nssv2867027,nssv2861519,nssv2867890,nssv2867382,nssv2866061,nssv2864782,nssv2866540,nssv2863203,nssv2859398,nssv2860372,nssv2859361,nssv2860830,nssv2865846,nssv2863496,nssv2861234,nssv2864604,nssv2862808,nssv2865436,nssv2864268,nssv2867487,nssv2866054,nssv2866840,nssv2864671,nssv2863502,nssv2866652,nssv2862500,nssv2859879,nssv2866121,nssv2864063,nssv2866661,nssv2867451,nssv2861928,nssv2864216,nssv2861656,nssv2867004,nssv2865461,nssv2866764,nssv2864440,nssv2866835,nssv2863806,nssv2863820,nssv2859860,nssv2859039,nssv2866094,nssv2861562,nssv2862545,nssv2864389,nssv2866632,nssv2862714,nssv2867200,nssv2864259,nssv2861803,nssv2862363,nssv2867682,nssv2866346,nssv2858797,nssv2866447,nssv2863225,nssv2859293,nssv2859248,nssv2867889,nssv2866265,nssv2866883,nssv2862988,nssv2866554,nssv2859890,nssv2863516,nssv2866853,nssv2862284,nssv2860603,nssv2859837,nssv2860628,nssv2866708,nssv2863998,nssv2867737,nssv2860353,nssv2860592,nssv2864877,nssv2864905,nssv2863943,nssv2860416,nssv2861926,nssv2859497,nssv2862660,nssv2858625,nssv2859691,nssv2863429,nssv2858699,nssv2863590,nssv2859548,nssv2863412,nssv2862494,nssv2866532,nssv2864925,nssv2862460,nssv2864966,nssv2858809,nssv2862207,nssv2860550,nssv2861837,nssv2863821,nssv2860829,nssv2862975,nssv2866209,nssv2864759,nssv2863290,nssv2859077,nssv2862180,nssv2863835,nssv2862740,nssv2859254,nssv2867020,nssv2867671,nssv2864374,nssv2859792,nssv2866637,nssv2859526,nssv2859345,nssv2862554,nssv2866203,nssv2860882,nssv2866686,nssv2860534,nssv2859187,nssv2860049,nssv2860469,nssv2866864,nssv2862784,nssv2864217,nssv2864276,nssv2864528,nssv2861874,nssv2864797,nssv2860982,nssv2865056,nssv2865025,nssv2864546,nssv2867249,nssv2867218,nssv2862024,nssv2859993,nssv2867570,nssv2861345,nssv2867047,nssv2864195,nssv2860091,nssv2863551,nssv2861784,nssv2864736,nssv2866409,nssv2862141,nssv2863049,nssv2862596,nssv2865207,nssv2858904,nssv2863163,nssv2866752,nssv2862285,nssv2864032,nssv2862091,nssv2862441,nssv2859280,nssv2866347,nssv2867774,nssv2864233,nssv2868254,nssv2858724,nssv2865175,nssv2866012,nssv2868182,nssv2861957,nssv2860915,nssv2866831,nssv2860512,nssv2861853,nssv2858519,nssv2861858,nssv2861414,nssv2862367,nssv2865093,nssv2866340,nssv2861826,nssv2865032,nssv2866044,nssv2862921,nssv2863469,nssv2866039,nssv2862008,nssv2863347,nssv2858554,nssv2860382,nssv2864976,nssv2865821,nssv2864035,nssv2866555,nssv2868243,nssv2859933,nssv2866797,nssv2858632,nssv2865221,nssv2864368,nssv2862400,nssv2860808,nssv2858933,nssv2867383,nssv2864044,nssv2862348,nssv2866240,nssv2862059,nssv2864695,nssv2860015,nssv2859894,nssv2863474,nssv2859697,nssv2867319,nssv2862841,nssv2862593,nssv2859091,nssv2865414,nssv2859918,nssv2860388,nssv2866977,nssv2866984,nssv2863813,nssv2867933,nssv2859106,nssv2861518,nssv2867834,nssv2861150,nssv2864577,nssv2866565,nssv2865633,nssv2866878,nssv2862326,nssv2864857,nssv2862783,nssv2864909,nssv2867543,nssv2865663,nssv2862493,nssv2859034,nssv2863901,nssv2866683,nssv2861167,nssv2862030,nssv2864914,nssv2860276,nssv2866972,nssv2861241,nssv2865136,nssv2864835,nssv2866132,nssv2866547,nssv2866751,nssv2859326,nssv2866195,nssv2865659,nssv2860284,nssv2860771,nssv2862029,nssv2863100,nssv2860438,nssv2861893,nssv2863983,nssv2865554,nssv2866798,nssv2865437,nssv2867930,nssv2864173,nssv2860769,nssv2864823,nssv2862258 M 2366 488 0 OR4F16,OR4F29,OR4F3 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10851,NA10852,NA10855,NA10856,NA10857,NA10859,NA10860,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12043,NA12044,NA12045,NA12056,NA12058,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12329,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12414,NA12485,NA12489,NA12546,NA12708,NA12716,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18518,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19177,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21310,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21404,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21512,NA21513,NA21514,NA21522,NA21523,NA21524,NA21525,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21717,NA21718 nsv945715 1 371739 435382 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755724,nssv1756528,nssv1756519,nssv1756541,nssv1755723,nssv1756535,nssv1756517,nssv1756524,nssv1756485,nssv1756546,nssv1755728,nssv1756548,nssv1756516,nssv1756544,nssv1756502,nssv1756529,nssv1755727,nssv1756533,nssv1755725,nssv1756550,nssv1756520,nssv1756542,nssv1756497,nssv1756526,nssv1756512,nssv1756539,nssv1756509,nssv1756553,nssv1756521,nssv1756547,nssv1756507,nssv1756549,nssv1756505,nssv1756540,nssv1756496,nssv1756534,nssv1756504,nssv1756536,nssv1756500,nssv1755721,nssv1756493,nssv1756525,nssv1756513,nssv1756551,nssv1756515,nssv1756545,nssv1756489,nssv1756538,nssv1755726,nssv1756537,nssv1756499,nssv1756523,nssv1755729,nssv1756530,nssv1756514,nssv1756531,nssv1756522,nssv1756527,nssv1756508,nssv1756532,nssv1756518,nssv1756552,nssv1756506,nssv1756543,nssv1756490,nssv1756488,nssv1756492,nssv1756486,nssv1755722,nssv1756494,nssv1756491,nssv1755730,nssv1756501,nssv1756487,nssv1755731,nssv1756495,nssv1756510,nssv1756503,nssv1756511,nssv1756498 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv544874 1 379005 454648 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707624 M 17421 0 1 "" nsv4501996 1 383000 388000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781120,nssv15781119,nssv15781116,nssv15781124,nssv15781123,nssv15781117,nssv15781125,nssv15781121,nssv15781122,nssv15781115,nssv15781114,nssv15781118 M 10847 0 0 "" nsv1074921 1 385199 385900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765726 M 1 0 1 "" KWP1 esv3438382 1 385789 386687 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692318 M 185 1 0 "" NA19239 nsv945527 1 397881 409465 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571524,nssv2571519,nssv2571537,nssv2571516,nssv2571545,nssv2571511,nssv2571538,nssv2571510,nssv2571521,nssv2571506,nssv2571523,nssv2571508,nssv2571542,nssv2571517,nssv2571536,nssv2571507,nssv2571548,nssv2571515,nssv2571543,nssv2571518,nssv2571547,nssv2571504,nssv2571520,nssv2571514,nssv2571539,nssv2571512,nssv2571532,nssv2571513,nssv2571527,nssv2571509,nssv2571534,nssv2571505,nssv2571526,nssv2571535,nssv2571540,nssv2571550,nssv2571531,nssv2571549,nssv2571522,nssv2571529,nssv2571551,nssv2571533,nssv2571530,nssv2571544,nssv2571525,nssv2571541,nssv2571528,nssv2571546 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1143422 1 397900 432000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980619 M 2 0 1 "" KWS1 nsv945528 1 409465 413535 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571568,nssv2571579,nssv2571564,nssv2571582,nssv2571553,nssv2571585,nssv2571565,nssv2571571,nssv2571559,nssv2571588,nssv2571552,nssv2571578,nssv2571561,nssv2571587,nssv2571556,nssv2571577,nssv2571562,nssv2571600,nssv2571563,nssv2571590,nssv2571557,nssv2571594,nssv2571554,nssv2571573,nssv2571566,nssv2571581,nssv2571567,nssv2571572,nssv2571555,nssv2571574,nssv2571558,nssv2571586,nssv2571560,nssv2571580,nssv2571589,nssv2571596,nssv2571595,nssv2571575,nssv2571593,nssv2571584,nssv2571583,nssv2571597,nssv2571591,nssv2571576,nssv2571599,nssv2571592,nssv2571570,nssv2571569,nssv2571598 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3359178 1 409989 413887 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692323 M 185 1 0 "" NA12878 nsv945529 1 413535 415914 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571617,nssv2571631,nssv2571609,nssv2571629,nssv2571607,nssv2571641,nssv2571602,nssv2571630,nssv2571605,nssv2571634,nssv2571611,nssv2571635,nssv2571615,nssv2571643,nssv2571606,nssv2571647,nssv2571604,nssv2571638,nssv2571603,nssv2571621,nssv2571608,nssv2571640,nssv2571612,nssv2571637,nssv2571610,nssv2571619,nssv2571616,nssv2571648,nssv2571613,nssv2571639,nssv2571601,nssv2571642,nssv2571614,nssv2571623,nssv2571624,nssv2571618,nssv2571646,nssv2571644,nssv2571649,nssv2571625,nssv2571636,nssv2571620,nssv2571628,nssv2571626,nssv2571645,nssv2571633,nssv2571627,nssv2571622,nssv2571632 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945530 1 415914 420388 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571656,nssv2571657,nssv2571652,nssv2571650,nssv2571659,nssv2571655,nssv2571658,nssv2571651,nssv2571653,nssv2571654,nssv2571660 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945532 1 420388 422832 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571669,nssv2571665,nssv2571672,nssv2571666,nssv2571667,nssv2571662,nssv2571670,nssv2571664,nssv2571668,nssv2571663,nssv2571671 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945533 1 422832 424285 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571684,nssv2571679,nssv2571681,nssv2571676,nssv2571675,nssv2571678,nssv2571673,nssv2571674,nssv2571682,nssv2571683,nssv2571677,nssv2571680 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945535 1 424285 426050 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571693,nssv2571692,nssv2571694,nssv2571696,nssv2571695,nssv2571687,nssv2571689,nssv2571688,nssv2571691,nssv2571690,nssv2571686,nssv2571685 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3444251 1 425089 427687 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692326 M 185 1 0 "" NA12878 esv3416681 1 425089 429487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692327 M 185 1 0 "" NA19238 nsv945536 1 426050 427054 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571704,nssv2571706,nssv2571703,nssv2571701,nssv2571697,nssv2571699,nssv2571707,nssv2571705,nssv2571708,nssv2571702,nssv2571700,nssv2571698 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945537 1 427054 435382 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571717,nssv2571713,nssv2571718,nssv2571710,nssv2571719,nssv2571709,nssv2571711,nssv2571712,nssv2571716,nssv2571714,nssv2571720,nssv2571715 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3347881 1 430989 432487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692334 M 185 1 0 "" NA12878 nsv1126163 1 432200 449400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984390 M 2 0 1 "" KWS1 nsv945539 1 435382 438688 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571731,nssv2571724,nssv2571723,nssv2571730,nssv2571728,nssv2571721,nssv2571729,nssv2571725,nssv2571726,nssv2571722,nssv2571727 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv994970 1 436729 461014 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586250 M 3 0 1 "" HuRef nsv945716 1 438688 459944 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755734,nssv1755732,nssv1755735,nssv1755740,nssv1755738,nssv1755737,nssv1755736,nssv1755733,nssv1755739,nssv1755742,nssv1755741 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3391927 1 450889 452387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692342 M 185 1 0 "" NA19238 esv3426596 1 450889 453587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692343 M 185 1 0 "" NA19240 esv3334942 1 450989 457087 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692344 M 185 1 0 "" NA19239 esv3410685 1 456289 459687 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692345 M 185 1 0 "" NA12878 nsv1143423 1 459500 460800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980620 M 2 0 1 "" KWS1 nsv945717 1 459944 463640 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755775,nssv1755749,nssv1755771,nssv1755755,nssv1748172,nssv1755757,nssv1755778,nssv1755756,nssv1755763,nssv1755748,nssv1755777,nssv1755745,nssv1755772,nssv1755750,nssv1755783,nssv1755758,nssv1755759,nssv1755753,nssv1755779,nssv1755752,nssv1748175,nssv1755744,nssv1755781,nssv1755751,nssv1748174,nssv1755754,nssv1755766,nssv1755743,nssv1755770,nssv1755747,nssv1755773,nssv1755746,nssv1755764,nssv1755776,nssv1748173,nssv1755760,nssv1755784,nssv1748170,nssv1755769,nssv1755761,nssv1748171,nssv1755765,nssv1755774,nssv1755768,nssv1755780,nssv1755767,nssv1755782,nssv1755762 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv8e59 1 460689 471287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3445983,esv3381255 M 185 2 0 "" NA12878,NA12892 esv3419296 1 460789 461787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692347 M 185 1 0 "" NA19238 esv1004360 1 461061 471368 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586709 M 3 1 0 "" HuRef nsv953222 1 463001 471100 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003132 M 1 1 0 "" BILGI_BIOE nsv945718 1 463640 471368 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1748185,nssv1748229,nssv1748177,nssv1748235,nssv1748186,nssv1748238,nssv1748179,nssv1749495,nssv1748178,nssv1748223,nssv1749493,nssv1748228,nssv1748197,nssv1748230,nssv1749492,nssv1748251,nssv1748206,nssv1748240,nssv1749490,nssv1748247,nssv1748196,nssv1748246,nssv2571741,nssv1748244,nssv1748194,nssv1748225,nssv1748203,nssv1749503,nssv2571739,nssv1749500,nssv1748199,nssv1748249,nssv1748205,nssv1748227,nssv2571740,nssv1748237,nssv1748192,nssv1748242,nssv1748184,nssv1748232,nssv1748190,nssv1748222,nssv2571735,nssv1748218,nssv1748204,nssv1749496,nssv1748253,nssv1749501,nssv1748180,nssv1748248,nssv1748209,nssv1748217,nssv2571734,nssv1748233,nssv2571742,nssv1748219,nssv1748176,nssv1748220,nssv1748212,nssv1748226,nssv1748210,nssv1748245,nssv1748254,nssv1748214,nssv2571743,nssv1748216,nssv1748191,nssv1748231,nssv1748193,nssv1748215,nssv2571733,nssv1748221,nssv1748182,nssv1748224,nssv1748202,nssv1748243,nssv1748187,nssv1748252,nssv1749494,nssv1748241,nssv1749489,nssv1748234,nssv1748201,nssv1749499,nssv1748211,nssv1749498,nssv1748195,nssv1749497,nssv1748213,nssv1748236,nssv1748198,nssv1749502,nssv2571736,nssv1749504,nssv2571738,nssv1748239,nssv1749488,nssv1748250,nssv1748208,nssv1748189,nssv2571737,nssv1748188,nssv1748183,nssv1748200,nssv1748255,nssv1748181,nssv1748207,nssv1749491 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1076309 1 467399 471300 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762533 M 1 1 0 "" KWP1 nsv1152873 1 469099 471300 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997907 M 1 1 0 "" KWB1 dgv2n82 1 521369 523750 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nsv945540,nsv945719 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5421515 1 521369 531380 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683859 M 3202 0 0 "" nsv6138911 1 521380 556874 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899337 M 3202 1 0 "" esv21732 1 521413 724071 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv18879,esv17928,esv12525,esv16417,esv12770,esv19351,esv17670,esv20880,esv17284,esv17998,esv10580,esv17045,esv19173,esv18811 M 40 23 16 LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 NA06985,NA07037,NA07045,NA11894,NA11993,NA12006,NA12044,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18505,NA18511,NA18517,NA18523,NA18858,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19190,NA19225,NA19240 esv992503 1 521458 547879 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586722 M 3 0 1 "" HuRef nsv4039615 1 521800 546850 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781231,nssv15781236,nssv15781232,nssv15781230,nssv15781229,nssv15781233,nssv15781235,nssv15781234 M 10847 0 0 "" nsv471522 1 522139 756783 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv547897,nssv547898,nssv547899 M 3 3 0 FAM87B,LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 JDW,NA18507,YH nsv6139077 1 522368 606374 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899351 M 3202 0 1 MIR6723 nsv945721 1 523750 529811 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571764,nssv2571756,nssv2571767,nssv2571766,nssv2571759,nssv2571762,nssv2571757,nssv2571760,nssv2571765,nssv2571758,nssv2571763,nssv2571761 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945720 1 523750 546384 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749556,nssv1749554,nssv1749553,nssv1749560,nssv1749561,nssv1749557,nssv1749555,nssv1749563,nssv1749562,nssv1749558,nssv1749559 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3444717 1 529489 534787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692356 M 185 1 0 "" NA19238 nsv5536453 1 530836 530887 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899405 M 3202 1 0 "" nsv4290545 1 530886 530887 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029986 M 10847 1 0 "" nsv4517655 1 531100 613750 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850344 M 10847 0 1 MIR6723 esv3324015 1 531489 532387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692357 M 185 1 0 "" NA12878 nsv5872441 1 531940 532192 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369942 M 914 0 1 "" nsv3324027 1 532011 532112 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484896 M 14 0 1 "" HG02106 nsv5984461 1 532077 532177 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529567 M 405 0 1 "" dgv9e59 1 533089 534187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3442814,esv3367382 M 185 2 0 "" NA19239,NA19240 nsv3324028 1 533163 533163 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486325 M 14 1 0 "" HG02106 nsv5984410 1 533195 533656 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525647 M 405 0 1 "" nsv6047784 1 533251 533251 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518658 M 405 1 0 "" nsv3939322 1 533253 533253 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191100 M 1 1 0 "" HG002 nsv3324464 1 533274 533274 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14480330 M 14 1 0 "" HG02106 nsv3535098 1 533276 533276 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440458 M 9 1 0 "" HG00733 nsv3325428 1 533321 533321 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482758 M 14 1 0 "" HG02106 nsv6046662 1 533328 533328 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518527 M 405 1 0 "" nsv6045334 1 533432 533432 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525550 M 405 1 0 "" nsv3325429 1 533447 533447 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484190,nssv14477001 M 14 2 0 "" HG00268,HG02106 nsv6060368 1 533521 533521 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532057 M 405 1 0 "" nsv6049438 1 533618 533618 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536004 M 405 1 0 "" nsv3324465 1 533619 533619 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476239 M 14 1 0 "" HG00268 nsv3325430 1 533673 533673 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472449,nssv14478001 M 14 2 0 "" HG00268,HG02106 nsv6048389 1 533761 533761 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535675 M 405 1 0 "" nsv3536350 1 533892 533892 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440459 M 9 1 0 "" HG00733 nsv6057642 1 533940 533940 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522484 M 405 1 0 "" nsv3325431 1 533951 533951 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486012,nssv14484439,nssv14479540 M 14 3 0 "" HG00268,HG02059,HG02106 nsv3535058 1 533972 533972 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440460 M 9 1 0 "" HG00733 nsv3539001 1 534019 534019 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440461 M 9 1 0 "" HG00733 nsv3539007 1 534104 534104 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440462 M 9 1 0 "" HG00733 nsv5984464 1 535789 536288 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520435 M 405 0 1 "" nsv6049606 1 536094 536094 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523545 M 405 1 0 "" nsv6049054 1 537641 537641 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523840 M 405 1 0 "" nsv6041863 1 537721 537721 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529558 M 405 1 0 "" nsv830758 1 539255 656750 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1441740,nssv1442295,nssv1441851,nssv1442406,nssv1441962,nssv1442517,nssv1442073,nssv1442184 M 95 0 8 MIR6723,OR4F16,OR4F29,OR4F3 dgv1n152 1 543537 550597 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3199295,nsv3206703 M 9 0 1 "" HG00733 nsv3324479 1 543981 560380 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14474780 M 14 1 0 "" NA12878 esv3350472 1 544489 546187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692365 M 185 1 0 "" NA12878 nsv6051299 1 544721 544721 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519222 M 405 1 0 "" nsv3184768 1 544721 544789 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14463854 M 9 0 0 "" HG00733 nsv3279831 1 544816 545016 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14458475 M 9 0 1 "" HG00733 nsv6049792 1 544838 544838 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518225 M 405 1 0 "" nsv544875 1 544966 569604 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707625 M 17421 1 0 MIR6723 nsv6055313 1 545063 545063 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532471 M 405 1 0 "" nsv5573575 1 545131 545893 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065692 M 35 0 1 "" HG00513 nsv5984469 1 545237 546046 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520125 M 405 0 1 "" nsv6051013 1 545253 545253 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531212 M 405 1 0 "" nsv6051359 1 545303 545303 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531836 M 405 1 0 "" nsv5984637 1 545309 545636 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522863 M 405 0 1 "" nsv3181490 1 545424 545488 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14466053 M 9 0 0 "" HG00733 nsv6045282 1 545447 545447 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527893 M 405 1 0 "" nsv3325451 1 545488 545488 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472181 M 14 1 0 "" HG00268 nsv5984877 1 545498 569198 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17522198 M 405 1 0 MIR6723 nsv6046521 1 545520 545520 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524969 M 405 1 0 "" nsv6055750 1 545618 545618 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522528 M 405 1 0 "" nsv6047982 1 545625 545625 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531833 M 405 1 0 "" nsv3324043 1 545630 545630 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483750 M 14 1 0 "" HG00268 nsv3539463 1 545659 545659 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440463 M 9 1 0 "" HG00733 nsv6044480 1 545671 545671 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536058 M 405 1 0 "" nsv3180409 1 545728 545796 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14462268 M 9 0 0 "" HG00733 nsv5984542 1 545754 545910 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529516 M 405 0 1 "" nsv3325164 1 545789 545789 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482607 M 14 1 0 "" HG02106 nsv6057011 1 545832 545832 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536216 M 405 1 0 "" nsv5984638 1 545911 546099 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520856 M 405 0 1 "" nsv6047138 1 545918 545918 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529090 M 405 1 0 "" nsv3324480 1 545925 545925 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475236 M 14 1 0 "" HG02106 nsv3925750 1 545927 545927 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192081 M 1 1 0 "" HG002 nsv3325452 1 545970 545970 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478390,nssv14487283,nssv14488491,nssv14486227,nssv14476562,nssv14476019 M 14 6 0 "" CHM1,HG00268,HG00733,HG02059,HG02106,NA12878 nsv5984878 1 546050 546114 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526328 M 405 0 1 "" nsv1118085 1 546200 564500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980303 M 2 0 1 "" KWS1 nsv945723 1 546384 549347 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573008,nssv2573005,nssv2573006,nssv2571769,nssv2573004,nssv2571771,nssv2573007,nssv2573009,nssv2573010,nssv2573011,nssv2571770 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945722 1 546384 563896 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749612,nssv1749590,nssv1749604,nssv1749599,nssv1749631,nssv1749564,nssv1749615,nssv1749594,nssv1749623,nssv1749575,nssv1749602,nssv1749636,nssv1749616,nssv1749598,nssv1749622,nssv1749571,nssv1749630,nssv1749597,nssv1749625,nssv1749569,nssv1749632,nssv1749579,nssv1749626,nssv1749583,nssv1749614,nssv1749589,nssv1749609,nssv1749595,nssv1749611,nssv1749637,nssv1749603,nssv1749601,nssv1749618,nssv1749576,nssv1749613,nssv1749580,nssv1749610,nssv1749572,nssv1749621,nssv1749588,nssv1749633,nssv1749591,nssv1749624,nssv1749634,nssv1749608,nssv1749582,nssv1749606,nssv1749585,nssv1749629,nssv1749577,nssv1749619,nssv1749568,nssv1749620,nssv1749592,nssv1749627,nssv1749640,nssv1749607,nssv1749584,nssv1749605,nssv1749570,nssv1749628,nssv1749578,nssv1749617,nssv1749635,nssv1749567,nssv1749587,nssv1749565,nssv1749643,nssv1749566,nssv1749638,nssv1749573,nssv1749586,nssv1749642,nssv1749596,nssv1749574,nssv1749593,nssv1749639,nssv1749600,nssv1749641,nssv1749581 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv10e59 1 546689 547987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3393054,esv3377615 M 185 2 0 "" NA12878,NA12891 nsv5606687 1 546705 546705 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066019 M 35 1 0 "" HG00513 nsv3325453 1 546939 547354 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488228 M 14 0 1 "" HG02059 nsv5984639 1 546973 547072 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531919 M 405 0 1 "" nsv6045006 1 547109 547109 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518458 M 405 1 0 "" nsv5984470 1 547220 547334 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521374 M 405 0 1 "" nsv3324044 1 547276 547276 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478700 M 14 1 0 "" HG02106 nsv3325454 1 547532 547633 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479452 M 14 0 1 "" HG02059 nsv4047701 1 547599 547802 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965142 M 10847 1 0 "" nsv6044222 1 547751 547751 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533674 M 405 1 0 "" nsv6059328 1 547857 547857 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524707 M 405 1 0 "" nsv945542 1 549347 557532 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573017,nssv2573020,nssv2573021,nssv2573013,nssv2573019,nssv2573022,nssv2573014,nssv2573016,nssv2573015,nssv2573023,nssv2573018,nssv2573012 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4052009 1 553300 564400 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781325,nssv15781319,nssv15781323,nssv15781324,nssv15781321,nssv15781320,nssv15781322 M 10847 0 0 "" dgv11e59 1 554089 558787 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3399854,esv3433794 M 185 2 0 "" NA12878,NA19238 nsv945543 1 557532 563896 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573028,nssv2573029,nssv2573031,nssv2573034,nssv2573026,nssv2573024,nssv2573027,nssv2573032,nssv2573025,nssv2573035,nssv2573033,nssv2573030 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4509904 1 560250 570600 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781427,nssv15783358,nssv15781435,nssv15781437,nssv15781428,nssv15783357,nssv15781436,nssv15783356,nssv15783355,nssv15781433,nssv15781429,nssv15781432,nssv15781426,nssv15781434,nssv15781424,nssv15781438,nssv15781430,nssv15781425,nssv15783360,nssv15781431,nssv15783359 M 10847 0 0 MIR6723 nsv945724 1 563896 570056 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749684,nssv1749670,nssv1749699,nssv1749724,nssv1749694,nssv1749728,nssv1749718,nssv1749679,nssv1749737,nssv1749644,nssv1749683,nssv1749651,nssv1749686,nssv1749678,nssv1749717,nssv1749658,nssv1749707,nssv1749727,nssv1749688,nssv1749722,nssv1749687,nssv1749675,nssv1749685,nssv1749672,nssv1749703,nssv1749667,nssv1749711,nssv1749661,nssv1749682,nssv1749681,nssv1749733,nssv1749652,nssv1749716,nssv1749649,nssv1749700,nssv1749669,nssv1749708,nssv1749721,nssv1749696,nssv1749726,nssv1749731,nssv1749655,nssv1749697,nssv1749666,nssv1749692,nssv1749680,nssv1749702,nssv1749657,nssv1749712,nssv1749671,nssv1749713,nssv1749660,nssv1749740,nssv1749650,nssv1749738,nssv1749663,nssv1749714,nssv1749730,nssv1749690,nssv1749664,nssv1749734,nssv1749662,nssv1749710,nssv1749656,nssv1749739,nssv1749725,nssv1749735,nssv1749677,nssv1749689,nssv1749648,nssv1749695,nssv1749668,nssv1749698,nssv1749665,nssv1749705,nssv1749673,nssv1749720,nssv1749659,nssv1749719,nssv1749674,nssv1749715,nssv1749723,nssv1749691,nssv1749676,nssv1749732,nssv1749647,nssv1749706,nssv1749645,nssv1749693,nssv1749653,nssv1749709,nssv1749646,nssv1749736,nssv1749654,nssv1749701,nssv1749729,nssv1749704 M 97 10 0 MIR6723 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6327476 1 563981 584980 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203666 M 19652 1 0 MIR6723 nsv5430171 1 564280 571368 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899413 M 3202 0 0 MIR6723 nsv949752 1 564301 570300 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997093 M 1 1 0 MIR6723 BILGI_BIOE esv3417080 1 564389 570387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692377 M 185 1 0 MIR6723 NA19239 dgv1e24 1 564434 649747 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH esv2750488,esv2750642,esv2750730,esv2750723,esv2750751,esv2750735,esv2750553,esv2750702,esv2750575,esv2750552,esv2750566,esv2750643,esv2750655 M 51 0 13 MIR6723,OR4F16,OR4F29,OR4F3 21634,21837,21847,21863,21872,21911,21938,21972,22007,22170,22231,22278,22371 nsv5579430 1 564435 564916 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066190 M 35 0 1 "" NA19240 dgv2n14 1 564477 706368 CNV gain Cooper_et_al_2008 18776910 SNP array nsv433347,nsv433346 M 9 2 0 LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 NA12156,NA19240 nsv6325558 1 564481 569180 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203667 M 19652 1 0 MIR6723 nsv1077276 1 564499 571000 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762135 M 1 1 0 MIR6723 KWP1 nsv820617 1 564540 570775 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1419880 M 1 1 0 MIR6723 NA10851 nsv945544 1 564556 566088 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573042,nssv2573044,nssv2573041,nssv2573039,nssv2573043,nssv2573040,nssv2573037,nssv2573036,nssv2573038,nssv2573045 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1004962 1 564621 850675 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696751 M 11257 1 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 nsv1003571 1 564773 798959 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466368 M 11257 0 1 FAM87B,LINC00115,LINC01128,LOC100133331,LOC100288069,MIR6723,OR4F16,OR4F29,OR4F3 nsv544876 1 564862 568463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707626 M 17421 0 1 MIR6723 dgv3n54 1 565490 570178 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544878,nsv544877 M 17421 0 2 MIR6723 nsv6327317 1 566881 574880 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203669 M 19652 1 0 MIR6723 nsv945546 1 568154 569456 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573052,nssv2573047,nssv2573049,nssv2573051,nssv2573046,nssv2573054,nssv2573055,nssv2573050,nssv2573048,nssv2573053 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5717496 1 569199 569199 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17217285 M 3202 1 0 "" nsv5724178 1 570017 570017 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17245082 M 3202 1 0 "" nsv945727 1 570056 574939 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573061,nssv2573059,nssv2573058,nssv2573060,nssv2573057,nssv2573065,nssv2573056,nssv2573062,nssv2573063,nssv2573064,nssv2573066 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945726 1 570056 617910 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749770,nssv1750726,nssv1749774,nssv1750731,nssv1749775,nssv1749790,nssv1750737,nssv1750723,nssv1749755,nssv1750732,nssv1749748,nssv1750722,nssv1750742,nssv1749783,nssv1749767,nssv1750734,nssv1749756,nssv1749787,nssv1749777,nssv1749781,nssv1749749,nssv1749780,nssv1749762,nssv1750727,nssv1749773,nssv1749785,nssv1749765,nssv1749784,nssv1749760,nssv1749782,nssv1749776,nssv1750721,nssv1749771,nssv1750730,nssv1750735,nssv1749794,nssv1749759,nssv1750733,nssv1749747,nssv1750725,nssv1749753,nssv1749791,nssv1750736,nssv1750724,nssv1749778,nssv1749789,nssv1750740,nssv1749793,nssv1750738,nssv1749779,nssv1750741,nssv1750720,nssv1749752,nssv1750728,nssv1749772,nssv1749788,nssv1749764,nssv1750729,nssv1749758,nssv1749786,nssv1749769,nssv1749792,nssv1749757,nssv1749795,nssv1749761,nssv1749751,nssv1750744,nssv1749742,nssv1749746,nssv1749743,nssv1749754,nssv1749750,nssv1750739,nssv1750743,nssv1749741,nssv1749744,nssv1749745,nssv1749766,nssv1749763,nssv1749768 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3362065 1 571189 579987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692378 M 185 1 0 "" NA12878 nsv4045041 1 571750 585025 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850204 M 10847 0 1 "" nsv5577050 1 573536 573867 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066180 M 35 0 1 "" NA19240 nsv4035416 1 574750 581950 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851040 M 10847 0 1 "" nsv945547 1 574939 580365 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573093,nssv2573081,nssv2573085,nssv2573079,nssv2573096,nssv2573080,nssv2573106,nssv2573070,nssv2573112,nssv2573077,nssv2573104,nssv2573069,nssv2573100,nssv2573078,nssv2573091,nssv2573082,nssv2573084,nssv2573076,nssv2573113,nssv2573071,nssv2573111,nssv2573072,nssv2573105,nssv2573068,nssv2573086,nssv2573073,nssv2573114,nssv2573074,nssv2573108,nssv2573075,nssv2573083,nssv2573097,nssv2573098,nssv2573102,nssv2573103,nssv2573095,nssv2573115,nssv2573090,nssv2573101,nssv2573099,nssv2573087,nssv2573088,nssv2573094,nssv2573109,nssv2573092,nssv2573110,nssv2573089,nssv2573107 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5584151 1 576539 576646 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066185 M 35 0 1 "" NA19240 esv3393199 1 576789 578987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692385 M 185 1 0 "" NA19240 nsv831869 1 579492 743311 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1443295,nssv1442629,nssv1443406,nssv1442740,nssv1442851,nssv1443517,nssv1442962,nssv1443073,nssv1443628,nssv1443184 M 95 8 2 LOC100133331,LOC100288069,OR4F16,OR4F29,OR4F3 nsv945549 1 580365 582158 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573143,nssv2573122,nssv2573161,nssv2573130,nssv2573140,nssv2573132,nssv2573157,nssv2573124,nssv2573162,nssv2573118,nssv2573145,nssv2573121,nssv2573135,nssv2573119,nssv2573138,nssv2573127,nssv2573155,nssv2573126,nssv2573141,nssv2573128,nssv2573164,nssv2573120,nssv2573136,nssv2573117,nssv2573163,nssv2573125,nssv2573142,nssv2573129,nssv2573133,nssv2573123,nssv2573147,nssv2573131,nssv2573139,nssv2573144,nssv2573149,nssv2573137,nssv2573151,nssv2573159,nssv2573158,nssv2573148,nssv2573156,nssv2573150,nssv2573134,nssv2573152,nssv2573154,nssv2573153,nssv2573160,nssv2573146 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5580945 1 584190 584246 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065698 M 35 0 1 "" NA24385 nsv3223226 1 588656 628862 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259076,nssv14259079,nssv14259078,nssv14259077 M 9 4 0 OR4F16,OR4F29,OR4F3 HG00512,HG00513,HG00514,NA19238 esv3363248 1 592089 592987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692393 M 185 1 0 "" NA19238 nsv1077277 1 599099 602300 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768301 M 1 1 0 "" KWP1 nsv4042173 1 599300 605250 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15781440,nssv15783387,nssv15781441,nssv15783386,nssv15781439,nssv15783383,nssv15783385,nssv15783384 M 10847 0 0 "" nsv1126164 1 600100 601700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984391 M 2 0 1 "" KWS1 nsv3535502 1 601423 601423 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413775 M 9 1 0 "" HG00514 nsv6138136 1 601880 622380 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900381 M 3202 1 0 OR4F16,OR4F29,OR4F3 nsv1149470 1 602999 605900 CNV duplication John_et_al_2014 26484159 Sequencing nssv4000773 M 1 1 0 "" KWB1 nsv4048468 1 603000 623000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780751,nssv15780746,nssv15780752,nssv15780747,nssv15780750,nssv15780749,nssv15780748 M 10847 0 0 OR4F16,OR4F29,OR4F3 nsv5868586 1 603307 603385 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17377822 M 914 0 1 "" nsv4043338 1 603330 603403 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851325 M 10847 0 1 "" dgv12e59 1 603689 605287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3383793,esv3428101 M 185 2 0 "" NA19239,NA19240 nsv5984720 1 603758 604212 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521963 M 405 0 1 "" nsv3049300 1 603763 604044 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14019976 M 2 0 1 "" NA12878 nsv6055449 1 603840 603840 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534611 M 405 1 0 "" nsv3324503 1 603936 604013 CNV line1 deletion Audano_et_al_2019 30661756 Sequencing nssv14739060 M 14 0 1 "" NA19240 nsv3049303 1 604068 604146 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14031700 M 2 0 1 "" NA12878 nsv6043317 1 604123 604123 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526510 M 405 1 0 "" nsv6059792 1 604145 604145 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518887 M 405 1 0 "" nsv3324737 1 604429 604505 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472631 M 14 0 1 "" NA19240 nsv6053354 1 604609 604609 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520203 M 405 1 0 "" nsv5984903 1 604808 604885 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537242 M 405 0 1 "" nsv3530918 1 604818 604818 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440464 M 9 1 0 "" HG00733 nsv5984799 1 604846 605159 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530114 M 405 0 1 "" nsv3176959 1 604894 604968 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440465 M 9 0 0 "" HG00733 nsv2801233 1 604933 605008 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13688143 M 2 0 1 "" nsv3944634 1 605031 605031 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191358 M 1 1 0 "" HG002 nsv3325837 1 605032 605032 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479168,nssv14478665 M 14 2 0 "" HG00268,HG02106 nsv6048129 1 605041 605041 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526727 M 405 1 0 "" nsv3545714 1 605084 605084 CNV line1 insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440466 M 9 1 0 "" HG00733 nsv6056745 1 605103 605103 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528813 M 405 1 0 "" nsv6058404 1 605144 605144 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522897 M 405 1 0 "" nsv6054963 1 605199 605199 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537450 M 405 1 0 "" nsv3324504 1 605300 605300 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490454 M 14 1 0 "" NA12878 nsv1143424 1 605400 623300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980621 M 2 0 1 OR4F16,OR4F29,OR4F3 KWS1 nsv1136052 1 605500 615800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989658 M 2 0 1 "" KWS2 nsv945736 1 617910 637404 OTHER complex Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1682226,nssv1686495,nssv1683213,nssv1750772,nssv1682249,nssv1750764,nssv1682238,nssv1751176,nssv1683214,nssv1750781,nssv1684722,nssv1750769,nssv1682260,nssv1750770,nssv1685439,nssv1750767,nssv1750756,nssv1751179,nssv1684710,nssv1686361,nssv1683296,nssv1750775,nssv1683211,nssv1750768,nssv1750745,nssv1750765,nssv1684715,nssv1686462,nssv1750753,nssv1750780,nssv1683206,nssv1751182,nssv1683397,nssv1750771,nssv1684624,nssv1686493,nssv1750759,nssv1686497,nssv1750751,nssv1751180,nssv1750754,nssv1686496,nssv1750757,nssv1750762,nssv1750748,nssv1685641,nssv1750752,nssv1751177,nssv1683195,nssv1750774,nssv1750749,nssv1750779,nssv1683221,nssv1750773,nssv1750758,nssv1751185,nssv1683220,nssv1684706,nssv1684707,nssv1750777,nssv1684523,nssv1684704,nssv1683218,nssv1685540,nssv1750755,nssv1750782,nssv1684699,nssv1751184,nssv1684713,nssv1684700,nssv1683217,nssv1750776,nssv1750746,nssv1686498,nssv1684711,nssv1750778,nssv1750760,nssv1686494,nssv1684708,nssv1750763,nssv1684422,nssv1750761,nssv1750747,nssv1684703,nssv1683212,nssv1684702,nssv1684712,nssv1751181,nssv1683219,nssv1684701,nssv1683215,nssv1684705,nssv1750750,nssv1750766,nssv1684714,nssv1751183,nssv1751178 M 97 10 0 OR4F16,OR4F29,OR4F3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6138824 1 623368 631368 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900384 M 3202 1 0 "" nsv1159749 1 625470 768793 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4025989 M 369 1 0 FAM87B,LINC00115,LINC01128,LOC100133331,LOC100288069 nsv1154329 1 625470 813318 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4004840 M 131 0 1 FAM41C,FAM87B,LINC00115,LINC01128,LOC100133331,LOC100288069 dgv1n111 1 625470 874902 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nsv1161363,nsv1161123 M 369 4 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417,LOC100133331,LOC100288069,SAMD11 dgv1n97 1 625470 918573 CNV duplication Lou_et_al_2014 25026903 SNP array nsv1155993,nsv1155824 M 131 2 0 C1orf170,FAM41C,FAM87B,KLHL17,LINC00115,LINC01128,LOC100130417,LOC100133331,LOC100288069,NOC2L,PLEKHN1,SAMD11 nsv544879 1 629742 697930 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707629 M 17421 0 1 LOC100133331 nsv1136053 1 633400 637100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989659 M 2 0 1 "" KWS2 esv3669611 1 636297 636297 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491854 M 20 1 0 "" nsv945730 1 637404 641365 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573196,nssv2573181,nssv2573187,nssv2573180,nssv2573209,nssv2573175,nssv2573203,nssv2573178,nssv2573195,nssv2573172,nssv2573193,nssv2573168,nssv2573189,nssv2573169,nssv2573182,nssv2573167,nssv2573210,nssv2573171,nssv2573183,nssv2573177,nssv2573199,nssv2573174,nssv2573206,nssv2573173,nssv2573185,nssv2573176,nssv2573204,nssv2573170,nssv2573205,nssv2573179,nssv2573191,nssv2573166,nssv2573188,nssv2573192,nssv2573212,nssv2573213,nssv2573184,nssv2573207,nssv2573194,nssv2573200,nssv2573211,nssv2573198,nssv2573190,nssv2573208,nssv2573186,nssv2573201,nssv2573197,nssv2573202 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945729 1 637404 662433 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751248,nssv1751203,nssv1751253,nssv1751197,nssv1751227,nssv1751219,nssv1751234,nssv1751220,nssv1751251,nssv1751260,nssv1751240,nssv1751192,nssv1751231,nssv1751213,nssv1751242,nssv1751210,nssv1751226,nssv1751191,nssv1751238,nssv1751207,nssv1751229,nssv1751193,nssv1751236,nssv1751194,nssv1751245,nssv1751221,nssv1751246,nssv1751263,nssv1751233,nssv1751218,nssv1751254,nssv1751261,nssv1751235,nssv1751223,nssv1751237,nssv1751201,nssv1751239,nssv1751259,nssv1751241,nssv1751256,nssv1751228,nssv1751212,nssv1751225,nssv1751209,nssv1751230,nssv1751198,nssv1751244,nssv1751205,nssv1751247,nssv1751258,nssv1751249,nssv1751214,nssv1751250,nssv1751257,nssv1751224,nssv1751204,nssv1751252,nssv1751186,nssv1751232,nssv1751216,nssv1751255,nssv1751199,nssv1751243,nssv1751222,nssv1751187,nssv1751200,nssv1751188,nssv1751202,nssv1751196,nssv1751262,nssv1751195,nssv1751208,nssv1751189,nssv1751211,nssv1751264,nssv1751215,nssv1751265,nssv1751190,nssv1751206,nssv1751217 M 97 10 0 LOC100133331 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3324750 1 638281 649380 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14491750 M 14 1 0 "" NA19434 dgv6n106 1 640000 647400 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1110125,nsv1115328 M 2 2 0 "" KWS1,KWS2 nsv1146307 1 640799 686200 CNV duplication John_et_al_2014 26484159 Sequencing nssv3999509 M 1 1 0 LOC100133331 KWB1 nsv945551 1 641365 646620 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2573252,nssv2573217,nssv2573256,nssv2573219,nssv2573239,nssv2573226,nssv2573247,nssv2573215,nssv2573230,nssv2573223,nssv2573251,nssv2573228,nssv2573238,nssv2573216,nssv2573236,nssv2573220,nssv2573233,nssv2573227,nssv2573260,nssv2573225,nssv2573258,nssv2573218,nssv2573257,nssv2573229,nssv2573250,nssv2573221,nssv2573235,nssv2573222,nssv2573253,nssv2573224,nssv2573241,nssv2573232,nssv2573237,nssv2573254,nssv2573246,nssv2573240,nssv2573234,nssv2573242,nssv2573255,nssv2573249,nssv2573231,nssv2573259,nssv2571023,nssv2573248,nssv2573261,nssv2573245,nssv2573243,nssv2573244 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv3n206 1 641368 653368 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nsv6138495,nsv6138746 M 3202 2 0 "" nsv3520621 1 645959 645959 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413776,nssv14440468 M 9 2 0 "" HG00514,HG00733 nsv5622237 1 645959 645959 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066239 M 35 1 0 "" HG00096 nsv6059186 1 645959 645959 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518659 M 405 1 0 "" nsv2802311 1 645960 645960 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687061 M 2 1 0 "" nsv3324755 1 645960 645960 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14485750,nssv14489303,nssv14475260,nssv14473709,nssv14490922,nssv14476277,nssv14480202,nssv14474761,nssv14473828,nssv14487832,nssv14482408,nssv14477448 M 14 12 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19434 nsv3521482 1 645963 645963 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388177 M 9 1 0 "" NA19240 nsv6245308 1 645971 645971 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17838703 M 1021 1 0 "" nsv3051736 1 645972 645972 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14024339 M 2 1 0 "" NA12878 nsv945552 1 646620 647120 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2571041,nssv2571049,nssv2571034,nssv2571045,nssv2571035,nssv2571047,nssv2571026,nssv2571058,nssv2571025,nssv2571069,nssv2571031,nssv2571055,nssv2571037,nssv2571074,nssv2571024,nssv2571046,nssv2571027,nssv2571066,nssv2571029,nssv2571050,nssv2571028,nssv2571051,nssv2571040,nssv2571056,nssv2571030,nssv2571062,nssv2571039,nssv2571052,nssv2571033,nssv2571075,nssv2571038,nssv2571061,nssv2571036,nssv2571071,nssv2571072,nssv2571077,nssv2571067,nssv2571057,nssv2571042,nssv2571053,nssv2571059,nssv2571044,nssv2571048,nssv2571073,nssv2571064,nssv2571063,nssv2571060,nssv2571068,nssv2571070 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3324758 1 647339 647428 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476323,nssv14474521 M 14 0 2 "" HG02818,NA19434 nsv5984734 1 647369 647427 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530666 M 405 0 1 "" nsv3325858 1 648708 649858 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480619 M 14 0 1 "" NA19434 nsv5577747 1 649704 649753 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066250 M 35 0 1 "" HG00512 nsv2802312 1 649705 649754 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13708539 M 2 0 1 "" nsv3325184 1 649705 649754 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488337,nssv14490308,nssv14473808,nssv14485500,nssv14474062,nssv14489041,nssv14478661,nssv14488040,nssv14476127,nssv14479691,nssv14476480,nssv14490875,nssv14488631,nssv14475044 M 14 0 14 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3175064 1 649705 649755 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14433109,nssv14462797,nssv14393898 M 9 0 0 "" HG00514,HG00733,NA19240 nsv5984735 1 649724 649776 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535435 M 405 0 1 "" nsv5984686 1 655905 655970 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519249 M 405 0 1 "" nsv1128581 1 657800 686600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960492 M 2 1 0 LOC100133331 KWS1 nsv3200228 1 657951 677832 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14256411,nssv14256412,nssv14256413 M 9 0 3 LOC100133331 HG00513,NA19238,NA19239 nsv1124555 1 658000 668100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976609 M 2 1 0 LOC100133331 KWS2 nsv4038743 1 658000 676000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780756,nssv15780753,nssv15780754,nssv15780755,nssv15780757,nssv15780759,nssv15780760,nssv15780758 M 10847 0 0 LOC100133331 nsv3325189 1 658481 676080 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14478512 M 14 1 0 LOC100133331 HG01352 nsv6138614 1 659596 671749 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900471 M 3202 0 1 LOC100133331 nsv3324762 1 660375 662558 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479981 M 14 0 1 LOC100133331 HG02818 nsv5984689 1 661862 661921 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530818 M 405 0 1 LOC100133331 nsv945732 1 662433 730328 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751304,nssv1751968,nssv1751952,nssv1751299,nssv1751955,nssv1751292,nssv1751335,nssv1751284,nssv1751331,nssv1751272,nssv1751323,nssv1751283,nssv1751308,nssv1751964,nssv1751978,nssv1751295,nssv1751317,nssv1751270,nssv1751320,nssv1751277,nssv1751314,nssv1751288,nssv1751954,nssv1751274,nssv1751311,nssv1751290,nssv1751969,nssv1751963,nssv1751322,nssv1751286,nssv1751318,nssv1751959,nssv1751316,nssv1751285,nssv1751325,nssv1751289,nssv1751958,nssv1751273,nssv1751307,nssv1751291,nssv1751977,nssv1751300,nssv1751306,nssv1751297,nssv1751328,nssv1751301,nssv1751971,nssv1751303,nssv1751333,nssv1751282,nssv1751957,nssv1751298,nssv1751973,nssv1751293,nssv1751310,nssv1751965,nssv1751976,nssv1751302,nssv1751326,nssv1751287,nssv1751309,nssv1751280,nssv1751319,nssv1751279,nssv1751972,nssv1751966,nssv1751953,nssv1751294,nssv1751315,nssv1751960,nssv1751334,nssv1751278,nssv1751975,nssv1751296,nssv1751313,nssv1751266,nssv1751329,nssv1751962,nssv1751321,nssv1751271,nssv1751305,nssv1751961,nssv1751956,nssv1751281,nssv1751324,nssv1751967,nssv1751970,nssv1751276,nssv1751312,nssv1751269,nssv1751974,nssv1751267,nssv1751327,nssv1751268,nssv1751332,nssv1751275,nssv1751330 M 97 10 0 LOC100133331,LOC100288069 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5984690 1 662607 662703 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532754 M 405 0 1 LOC100133331 nsv5613472 1 662669 662669 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067209 M 35 1 0 LOC100133331 HG00512 nsv3325507 1 662680 662680 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481522 M 14 1 0 LOC100133331 HG02818 nsv6046416 1 662681 662681 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526878 M 405 1 0 LOC100133331 nsv3939301 1 662750 662750 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192828 M 1 1 0 LOC100133331 HG002 nsv5579062 1 663901 664800 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067211 M 35 0 1 LOC100133331 HG00731 nsv3227952 1 663981 677832 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14265855 M 9 1 0 LOC100133331 NA19239 nsv1077278 1 664299 675100 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3770194 M 1 1 0 LOC100133331 KWP1 nsv949792 1 664301 675400 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997104 M 1 1 0 LOC100133331 BILGI_BIOE dgv1n223 1 664881 676280 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6322296,nsv6332510 M 19652 2 0 LOC100133331 nsv5420615 1 666755 675374 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900528 M 3202 0 0 "" nsv5422961 1 667030 850380 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900529 M 3202 1 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 nsv4517661 1 667725 724000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962068 M 10847 1 0 LOC100288069 nsv3184312 1 667757 671159 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381279 M 9 0 0 "" NA19240 nsv6324263 1 667981 669880 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204388 M 19652 1 0 "" esv3584976 1 668630 850204 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839014,essv9838980,essv9839036,essv9839035,essv9838978,essv9839019,essv9838979,essv9839024,essv9838977,essv9839016,essv9839012,essv9839030,essv9839003,essv9839031,essv9838999,essv9839022,essv9839002,essv9839026,essv9839009,essv9839033,essv9839008,essv9839027,essv9839010,essv9839023,essv9838997,essv9839028,essv9839011,essv9839032,essv9839004,essv9839025,essv9839006,essv9839029,essv9839007,essv9839020,essv9839000,essv9839018,essv9839005,essv9839034,essv9838998,essv9839021,essv9838996,essv9839017,essv9839013,essv9838981,essv9839001,essv9838986,essv9839015,essv9838991,essv9838987,essv9838984,essv9838993,essv9838989,essv9838985,essv9838995,essv9838988,essv9838983,essv9838994,essv9838990,essv9838982,essv9838992 M 2504 60 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 HG00306,HG00446,HG00457,HG00463,HG00475,HG00513,HG00543,HG00557,HG00593,HG00614,HG00620,HG00663,HG00675,HG00690,HG00692,HG00766,HG00867,HG00879,HG01028,HG01798,HG01840,HG01857,HG01867,HG01868,HG01871,HG02017,HG02028,HG02086,HG02116,HG02181,HG02353,HG02373,HG02383,HG02384,HG02392,HG02398,HG02401,HG02512,HG04141,NA18535,NA18553,NA18557,NA18564,NA18567,NA18571,NA18572,NA18573,NA18620,NA18635,NA18639,NA18947,NA18951,NA18972,NA18990,NA19006,NA19025,NA19072,NA19079,NA19083,NA20359 nsv4046332 1 668630 850205 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964045 M 10847 1 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 nsv5984823 1 668631 850205 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17532927 M 405 1 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 nsv5984694 1 669236 676114 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17530278 M 405 1 0 "" nsv3325508 1 670606 674014 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489415 M 14 0 1 "" NA19240 nsv5612666 1 671037 671037 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067224 M 35 1 0 "" HG03065 nsv1139464 1 672200 675000 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977051 M 2 1 0 "" KWS2 nsv3181790 1 672482 675866 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384877 M 9 0 0 "" NA19240 nsv3325509 1 672602 672602 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489663,nssv14481702 M 14 2 0 "" HG01352,NA19240 esv3361605 1 673389 675587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692399 M 185 1 0 "" NA12878 esv3345025 1 673589 674987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692400 M 185 1 0 "" NA12891 nsv3324769 1 674868 674868 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476324 M 14 1 0 "" HG01352 nsv5984932 1 678826 679271 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529415 M 405 0 1 "" nsv1124556 1 679100 686700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976610 M 2 1 0 "" KWS2 nsv6042347 1 680246 680246 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527042 M 405 1 0 "" nsv5984743 1 680254 681638 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520787 M 405 0 1 "" nsv3325865 1 681981 698780 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14487491,nssv14483715,nssv14477421,nssv14478139 M 14 4 0 "" HG00514,HG02059,HG02106,NA12878 nsv3325870 1 683597 683597 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14480142 M 14 1 0 "" HG01352 nsv6052458 1 683599 683599 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527451 M 405 1 0 "" nsv4033399 1 686000 700425 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964131 M 10847 1 0 LOC100288069 nsv5431403 1 687368 711368 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900530 M 3202 0 1 LOC100288069 nsv6138987 1 687368 731680 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900538 M 3202 1 0 LOC100288069 nsv5573255 1 693034 693176 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066298 M 35 0 1 "" NA18939 nsv5985163 1 693388 787860 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17527272 M 405 1 0 FAM87B,LINC00115,LINC01128,LOC100288069 nsv5676647 1 693888 693888 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17173989 M 3202 1 0 "" nsv5411887 1 693888 693939 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900591 M 3202 1 0 "" nsv3060825 1 694463 694463 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029526 M 2 1 0 "" CHM1 nsv6138940 1 695368 701368 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900617 M 3202 1 0 LOC100288069 nsv5422255 1 696947 697497 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900628 M 3202 0 1 "" nsv3202214 1 702613 724119 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14353690,nssv14353694,nssv14353691,nssv14353688,nssv14353692,nssv14353695,nssv14353689,nssv14353693,nssv14353687 M 9 9 0 LOC100288069 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5575457 1 704618 708772 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066408 M 35 0 1 LOC100288069 HG00731 nsv3053992 1 704621 708776 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14016866 M 2 0 1 LOC100288069 NA12878 nsv1147312 1 704699 712200 CNV duplication John_et_al_2014 26484159 Sequencing nssv4000084 M 1 1 0 LOC100288069 KWB1 nsv999785 1 707087 798959 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463004 M 11257 1 0 FAM87B,LINC00115,LINC01128,LOC100288069 esv2762129 1 707099 837085 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7004879 M 1109 1 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 RW_0585 nsv1156131 1 707099 850017 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4017941 M 131 1 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 nsv6139111 1 709368 763368 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900638 M 3202 1 0 FAM87B,LINC00115,LINC01128,LOC100288069 nsv1130938 1 709900 723900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967636 M 2 0 1 LOC100288069 KWS2 nsv5433857 1 710076 710155 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901621 M 3202 0 1 LOC100288069 nsv5604984 1 710621 710621 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066437 M 35 1 0 LOC100288069 HG03009 nsv3051740 1 710622 710622 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019545 M 2 1 0 LOC100288069 NA12878 dgv2n223 1 710881 749380 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6319022,nsv6322851,nsv6328187,nsv6322784,nsv6319796 M 19652 5 0 LOC100288069 nsv4533503 1 711673 711674 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030882 M 10847 1 0 LOC100288069 nsv6331651 1 711881 714780 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204448 M 19652 1 0 LOC100288069 nsv10161 1 712111 1708649 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv28031,nssv21429,nssv28038,nssv28558,nssv24621,nssv28946,nssv26888,nssv21431,nssv26882,nssv28029,nssv21436,nssv28048,nssv26877,nssv26876,nssv28542,nssv24610,nssv21448,nssv28921,nssv28533,nssv28940,nssv28552,nssv24602,nssv26879,nssv26892,nssv18108,nssv24600 M 31 11 7 ACAP3,AGRN,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf170,C1orf233,CCNL2,CDK11A,CDK11B,CPSF3L,DVL1,FAM132A,FAM41C,FAM87B,GLTPD1,HES4,ISG15,KLHL17,LINC00115,LINC01128,LOC100130417,LOC100288069,LOC148413,LOC254099,MIB2,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,MIR6808,MMP23A,MMP23B,MRPL20,MXRA8,NADK,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,SLC35E2,SLC35E2B,SSU72,TAS1R3,TMEM240,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 NA07048,NA10839,NA10863,NA12740,NA12872,NA18504,NA18537,NA18552,NA18564,NA18572,NA18972,NA19144,NA19173,NA19221 nsv6318029 1 712181 723980 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204450 M 19652 1 0 LOC100288069 dgv2n111 1 712545 813318 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nsv1161364,nsv1161682 M 369 2 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100288069 nsv3170084 1 712545 874902 CNV duplication Fu_et_al_2018 29476164 SNP array nssv14243384,nssv14241083,nssv14248522,nssv14247700,nssv14246610 M 93 5 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417,LOC100288069,SAMD11 MLY_1,MLY_2,NGO_17,NGO_18,NGO_55 nsv6333757 1 712681 716680 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204453 M 19652 1 0 LOC100288069 nsv5830756 1 712915 724119 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480775,nssv17480774,nssv17481744,nssv17480776 M 914 0 0 LOC100288069 esv3584977 1 713044 755966 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839038,essv9839039,essv9839037 M 2504 0 3 FAM87B,LOC100288069 HG01444,NA18976,NA20520 esv3584978 1 713044 755966 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839224,essv9839059,essv9839217,essv9839073,essv9839240,essv9839065,essv9839210,essv9839077,essv9839203,essv9839069,essv9839220,essv9839061,essv9839219,essv9839076,essv9839207,essv9839063,essv9839218,essv9839083,essv9839209,essv9839081,essv9839228,essv9839062,essv9839236,essv9839056,essv9839204,essv9839080,essv9839227,essv9839055,essv9839232,essv9839072,essv9839225,essv9839060,essv9839235,essv9839066,essv9839213,essv9839075,essv9839206,essv9839058,essv9839222,essv9839074,essv9839231,essv9839078,essv9839221,essv9839070,essv9839223,essv9839082,essv9839234,essv9839067,essv9839205,essv9839064,essv9839202,essv9839071,essv9839239,essv9839057,essv9839237,essv9839068,essv9839226,essv9839054,essv9839229,essv9839079,essv9839212,essv9839189,essv9839163,essv9839211,essv9839192,essv9839170,essv9839238,essv9839187,essv9839168,essv9839215,essv9839174,essv9839165,essv9839241,essv9839186,essv9839151,essv9839233,essv9839198,essv9839169,essv9839208,essv9839178,essv9839156,essv9839214,essv9839185,essv9839158,essv9839216,essv9839199,essv9839160,essv9839230,essv9839184,essv9839152,essv9839180,essv9839145,essv9839193,essv9839167,essv9839201,essv9839150,essv9839177,essv9839155,essv9839176,essv9839164,essv9839179,essv9839159,essv9839181,essv9839172,essv9839182,essv9839144,essv9839191,essv9839154,essv9839190,essv9839149,essv9839175,essv9839162,essv9839200,essv9839153,essv9839194,essv9839161,essv9839195,essv9839147,essv9839196,essv9839148,essv9839197,essv9839173,essv9839183,essv9839166,essv9839188,essv9839171,essv9839115,essv9839157,essv9839116,essv9839146,essv9839105,essv9839041,essv9839117,essv9839049,essv9839111,essv9839042,essv9839099,essv9839043,essv9839112,essv9839050,essv9839084,essv9839044,essv9839120,essv9839045,essv9839103,essv9839052,essv9839096,essv9839046,essv9839110,essv9839047,essv9839095,essv9839051,essv9839107,essv9839053,essv9839088,essv9839048,essv9839119,essv9839040,essv9839106,essv9839138,essv9839091,essv9839121,essv9839097,essv9839123,essv9839087,essv9839131,essv9839104,essv9839127,essv9839102,essv9839134,essv9839108,essv9839129,essv9839089,essv9839133,essv9839109,essv9839137,essv9839086,essv9839142,essv9839092,essv9839143,essv9839101,essv9839125,essv9839118,essv9839128,essv9839114,essv9839126,essv9839113,essv9839130,essv9839085,essv9839124,essv9839090,essv9839135,essv9839093,essv9839136,essv9839098,essv9839139,essv9839094,essv9839140,essv9839100,essv9839141,essv9839122,essv9839132 M 2504 202 0 FAM87B,LOC100288069 HG00131,HG00133,HG00148,HG00181,HG00255,HG00273,HG00277,HG00306,HG00344,HG00355,HG00362,HG00446,HG00457,HG00463,HG00475,HG00513,HG00543,HG00557,HG00593,HG00614,HG00620,HG00663,HG00675,HG00690,HG00692,HG00740,HG00766,HG00867,HG00879,HG01028,HG01088,HG01092,HG01119,HG01259,HG01359,HG01365,HG01384,HG01390,HG01413,HG01438,HG01512,HG01565,HG01571,HG01626,HG01669,HG01682,HG01709,HG01746,HG01747,HG01784,HG01798,HG01840,HG01857,HG01865,HG01867,HG01868,HG01871,HG01880,HG01958,HG01971,HG01986,HG02017,HG02028,HG02079,HG02111,HG02113,HG02116,HG02181,HG02220,HG02223,HG02299,HG02334,HG02353,HG02373,HG02383,HG02384,HG02392,HG02398,HG02401,HG02419,HG02442,HG02477,HG02512,HG02561,HG02562,HG02577,HG02623,HG02724,HG02734,HG02768,HG02775,HG02798,HG02807,HG02808,HG02813,HG02878,HG02952,HG03015,HG03189,HG03196,HG03234,HG03240,HG03343,HG03401,HG03484,HG03511,HG03515,HG03611,HG03615,HG03687,HG03695,HG03718,HG03731,HG03733,HG03774,HG03805,HG03812,HG03826,HG03844,HG03858,HG03862,HG03870,HG03899,HG03905,HG03944,HG04029,HG04094,HG04141,HG04159,HG04185,NA07056,NA07357,NA11918,NA11995,NA12750,NA12777,NA12872,NA12873,NA18535,NA18553,NA18557,NA18564,NA18567,NA18571,NA18572,NA18573,NA18620,NA18635,NA18639,NA18916,NA18947,NA18951,NA18972,NA18989,NA18990,NA19006,NA19025,NA19031,NA19070,NA19079,NA19083,NA19200,NA19375,NA19449,NA19712,NA19749,NA19782,NA19792,NA19904,NA20278,NA20291,NA20332,NA20346,NA20359,NA20505,NA20507,NA20524,NA20532,NA20534,NA20539,NA20761,NA20766,NA20792,NA20806,NA20808,NA20811,NA20812,NA20858,NA20859,NA20885,NA20889,NA20892,NA21089,NA21094,NA21101,NA21111,NA21119,NA21124,NA21125,NA21141,NA21143,NA21144 nsv5963464 1 714086 714086 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17381863 M 914 1 0 "" nsv6045884 1 714088 714088 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533895 M 405 1 0 "" nsv5423417 1 714108 714160 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901687 M 3202 0 1 "" nsv3212875 1 714526 731705 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259103,nssv14259104,nssv14259096,nssv14259100,nssv14259097,nssv14259101,nssv14259102,nssv14259099,nssv14259098 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 dgv3n223 1 715215 828631 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6318267,nsv6319722 M 19652 0 2 FAM41C,FAM87B,LINC00115,LINC01128 nsv508722 1 717919 744073 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619756 M 4 1 0 "" NA10860 nsv510950 1 717919 747342 OTHER complex Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv624357,nssv621648 M 4 0 0 "" NA15510,NA18994 dgv3n111 1 718663 874902 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nsv1161849,nsv1161536 M 369 2 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417,SAMD11 nsv4558894 1 720320 720321 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032086 M 10847 1 0 "" dgv4n223 1 720473 857637 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6332337,nsv6325716 M 19652 2 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417 nsv6327076 1 721938 773011 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204468 M 19652 1 0 FAM87B,LINC00115,LINC01128 nsv949808 1 723901 727200 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997115 M 1 1 0 "" BILGI_BIOE nsv6331161 1 724081 963880 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204472 M 19652 1 0 AGRN,C1orf170,FAM41C,FAM87B,HES4,ISG15,KLHL17,LINC00115,LINC01128,LOC100130417,NOC2L,PLEKHN1,SAMD11 nsv1076310 1 724099 727000 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3765885 M 1 1 0 "" KWP1 nsv1148789 1 724099 728000 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997574 M 1 1 0 "" KWB1 nsv1132275 1 724100 728000 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987042 M 2 1 0 "" KWS1 nsv513729 1 724132 726937 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626981 M 1 1 0 "" 1 nsv6046484 1 724290 724290 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531783 M 405 1 0 "" nsv544880 1 724300 725737 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707630 M 17421 1 0 "" dgv4n54 1 724300 727037 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544883,nsv544882,nsv544881,nsv544884,nsv544888,nsv544886 M 17421 12 0 "" esv26272 1 724314 727245 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17593 M 40 0 4 "" NA11894,NA12006,NA12287,NA12828 nsv820807 1 724314 727245 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420291 M 1 1 0 "" NA10851 dgv5n54 1 724519 726794 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544885,nsv544891,nsv544887,nsv544890 M 17421 23 5 "" nsv5984845 1 724614 727029 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17523842 M 405 1 0 "" nsv3532009 1 724849 724849 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413422 M 9 1 0 "" HG00514 nsv544889 1 724849 726398 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707648 M 17421 0 1 "" nsv4756835 1 724850 724850 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16281110 M 25 1 0 "" nsv4749486 1 724850 727216 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16261813 M 25 1 0 "" nsv3537888 1 724861 724861 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374853,nssv14440469 M 9 2 0 "" HG00733,NA19240 nsv3943951 1 724861 724861 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15194121 M 1 1 0 "" HG002 nsv5604957 1 724861 724861 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066122 M 35 1 0 "" HG00732 nsv6040919 1 724861 724861 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525118 M 405 1 0 "" nsv2802596 1 724862 724862 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678243,nssv13686592 M 2 2 0 "" nsv3324799 1 724862 724862 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491170,nssv14482042,nssv14478875,nssv14488124,nssv14475916,nssv14480299,nssv14475277,nssv14476961,nssv14491204,nssv14483122,nssv14475978,nssv14490361,nssv14483901,nssv14474035 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3325543 1 725088 725088 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479898 M 14 1 0 "" HG01352 nsv3325230 1 725254 725254 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472170 M 14 1 0 "" HG01352 nsv3325231 1 725323 725323 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478924 M 14 1 0 "" HG01352 nsv544892 1 725409 726794 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707672 M 17421 0 1 "" nsv544893 1 725737 752566 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707673 M 17421 0 1 "" nsv5984761 1 725909 786465 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530257 M 405 0 1 FAM87B,LINC00115,LINC01128 esv2713915 1 726720 727137 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6921667,essv6961443 M 96 0 2 "" SSM018,SSM027 nsv5984943 1 726801 726946 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520775 M 405 0 1 "" nsv3324801 1 726881 748480 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14490315,nssv14488658,nssv14479502,nssv14480397,nssv14488987,nssv14475367,nssv14482371,nssv14487886,nssv14483676,nssv14474662,nssv14491330,nssv14473949 M 14 12 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 nsv6055132 1 726971 726971 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523560 M 405 1 0 "" nsv1112513 1 727100 750100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966611 M 2 0 1 "" KWS2 dgv1n209 1 727140 734642 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5830156,nsv5830757 M 914 0 0 "" nsv4517890 1 728000 733650 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964159 M 10847 1 0 "" nsv6327985 1 728083 776880 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064259 M 19652 0 1 FAM87B,LINC00115,LINC01128 nsv4033807 1 728092 776880 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852386 M 10847 0 1 FAM87B,LINC00115,LINC01128 nsv6320159 1 728281 733880 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204478 M 19652 1 0 "" nsv5830654 1 728419 741051 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480791,nssv17481752,nssv17480789,nssv17480790 M 914 0 0 "" nsv5421839 1 729363 828435 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901752 M 3202 0 1 FAM41C,FAM87B,LINC00115,LINC01128 nsv5609461 1 730954 730954 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066139 M 35 1 0 "" HG01114 nsv6332743 1 734481 742180 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205087 M 19652 1 0 "" nsv5830477 1 735581 742334 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480804,nssv17481756,nssv17481755 M 914 0 0 "" nsv6319658 1 736981 742480 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205093 M 19652 1 0 "" nsv5830159 1 737787 742817 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480805,nssv17480807,nssv17480806 M 914 0 0 "" nsv5830657 1 737788 746211 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481757,nssv17481759,nssv17481758 M 914 0 0 "" esv3584979 1 738570 742020 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839242 M 2504 0 1 "" NA19000 nsv4046689 1 738610 742016 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851177 M 10847 0 1 "" nsv5432017 1 738610 742016 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901805 M 3202 0 1 "" nsv5985183 1 738610 742016 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526782 M 405 0 1 "" esv2656593 1 738618 742106 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5805894 M 1151 0 1 "" NA19000 nsv945734 1 738914 795375 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751989,nssv1752004,nssv1751980,nssv1752051,nssv1751982,nssv1752058,nssv1751988,nssv1752014,nssv1752057,nssv1752013,nssv1751981,nssv1752012,nssv1752044,nssv1752002,nssv1752045,nssv1752006,nssv1752025,nssv1752055,nssv1752040,nssv1752010,nssv1752018,nssv1751985,nssv1752033,nssv1752054,nssv1752031,nssv1752053,nssv1752027,nssv1751993,nssv1752032,nssv1752009,nssv1752029,nssv1751987,nssv1752035,nssv1751984,nssv1752048,nssv1751986,nssv1752047,nssv1752049,nssv1752024,nssv1752050,nssv1752037,nssv1751998,nssv1752034,nssv1751994,nssv1752041,nssv1752008,nssv1752019,nssv1752001,nssv1752038,nssv1751990,nssv1752022,nssv1752056,nssv1752039,nssv1751999,nssv1752036,nssv1751996,nssv1752028,nssv1751979,nssv1752026,nssv1751992,nssv1752017,nssv1751995,nssv1752046,nssv1752016,nssv1752020,nssv1752007,nssv1752042,nssv1752005,nssv1752023,nssv1752052,nssv1752021,nssv1752000,nssv1752043,nssv1751983,nssv1752030,nssv1751997,nssv1752015,nssv1752003,nssv1752011,nssv1751991 M 97 10 0 FAM87B,LINC00115,LINC01128 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6322934 1 739781 741480 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205095 M 19652 1 0 "" nsv1005935 1 740857 850675 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696752 M 11257 1 0 FAM41C,FAM87B,LINC00115,LINC01128 nsv5830167 1 744096 749079 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481766,nssv17481767,nssv17480818 M 914 0 0 "" nsv4039815 1 744700 751000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964631 M 10847 1 0 "" nsv5830762 1 745409 755705 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480820,nssv17481768,nssv17480821 M 914 0 0 FAM87B dgv1n67 1 746408 849937 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv823919,nsv822808,nsv821697 M 31 4 0 FAM41C,FAM87B,LINC00115,LINC01128 NA18564,NA18947,NA18951,NA18972 nsv5421003 1 746764 747197 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901843 M 3202 0 1 "" nsv4045056 1 746764 747331 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852112 M 10847 0 1 "" nsv5576596 1 746770 747190 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066350 M 35 0 1 "" HG02587 nsv5620200 1 749929 749929 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066990 M 35 1 0 "" HG03125 nsv3325560 1 749930 749930 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476115 M 14 1 0 "" HG02818 nsv4756294 1 749934 749934 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16271512 M 25 1 0 "" nsv6047391 1 749965 749965 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528132 M 405 1 0 "" nsv3178769 1 750005 750101 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413423 M 9 0 0 "" HG00514 nsv2801694 1 750013 750013 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679590 M 2 1 0 "" nsv3324818 1 750013 750013 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474590,nssv14484016,nssv14483226,nssv14475748,nssv14473264,nssv14484607 M 14 6 0 "" CHM13,HG02059,HG02106,HG04217,HX1,NA19434 nsv6315722 1 750081 761680 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205108 M 19652 1 0 FAM87B,LINC00115 dgv5n223 1 750181 779980 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6324386,nsv6325330,nsv6316215 M 19652 3 0 FAM87B,LINC00115,LINC01128 nsv6334472 1 750381 756680 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205112 M 19652 1 0 FAM87B dgv6n223 1 750381 766680 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6321304,nsv6335337 M 19652 2 0 FAM87B,LINC00115,LINC01128 nsv6318102 1 750481 752780 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205114 M 19652 1 0 FAM87B dgv7n223 1 751081 759080 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6323938,nsv6327219 M 19652 2 0 FAM87B esv3890635 1 752566 784023 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25788744,essv25789091 M 3017 2 0 FAM87B,LINC00115,LINC01128 dgv1e55 1 752566 799463 CNV gain Pinto_et_al_2007 17911159 SNP array esv34886,esv34681 M 771 4 0 FAM87B,LINC00115,LINC01128 NA18620,NA18947 nsv517709 1 752566 1211292 CNV gain+loss Shaikh_et_al_2009 19592680 SNP array nssv670683,nssv700902,nssv677935,nssv658652,nssv657472,nssv681209,nssv688100,nssv652918,nssv669544,nssv668090,nssv683576,nssv660727,nssv677805,nssv691743,nssv680332,nssv667239,nssv662754,nssv654371,nssv662132 M 2026 18 1 AGRN,B3GALT6,C1orf159,C1orf170,FAM132A,FAM41C,FAM87B,HES4,ISG15,KLHL17,LINC00115,LINC01128,LOC100130417,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 dgv8n223 1 753581 763180 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6334376,nsv6331305 M 19652 2 0 FAM87B,LINC00115,LINC01128 dgv9n223 1 754081 759080 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6320133,nsv6326999 M 19652 2 0 FAM87B esv27271 1 754193 762622 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14965 M 40 1 0 FAM87B,LINC00115 NA18916 nsv950386 1 754201 759100 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997126 M 1 0 1 FAM87B BILGI_BIOE esv33946 1 754205 779756 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv101171,essv96332 M 51 2 0 FAM87B,LINC00115,LINC01128 21618,22371 nsv5830484 1 754255 755505 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481776,nssv17480823,nssv17481777 M 914 0 0 FAM87B dgv2n166 1 754260 857641 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4037415,nsv4047355 M 10847 2 0 FAM41C,FAM87B,LINC00115,LINC01128,LOC100130417 nsv5830664 1 754471 756305 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481779,nssv17481778,nssv17481780,nssv17480824 M 914 0 0 FAM87B dgv10n223 1 755081 768680 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6317560,nsv6317029 M 19652 2 0 FAM87B,LINC00115,LINC01128 nsv5874975 1 755319 755388 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374141 M 914 0 1 "" nsv1115329 1 755400 758800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976381 M 2 1 0 "" KWS2 nsv3065361 1 755405 756525 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14037395 M 2 0 1 "" CHM1 nsv6316872 1 755427 756264 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205131 M 19652 1 0 "" nsv2802599 1 755438 756522 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13677091 M 2 0 1 "" nsv3325256 1 755438 756522 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481703 M 14 0 1 "" CHM1 nsv4040585 1 755440 756516 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780764,nssv15780762,nssv15780775,nssv15780778,nssv15780763,nssv15780777,nssv15780776,nssv15780774,nssv15780769,nssv15780768,nssv15780761,nssv15780765,nssv15780766,nssv15780767,nssv15780772,nssv15780770,nssv15780773,nssv15780771 M 10847 0 0 "" esv3662913 1 755483 755483 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485825 M 20 1 0 "" esv3663634 1 755572 755572 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486474 M 20 1 0 "" nsv5426763 1 755634 758248 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902854 M 3202 1 0 "" esv2713916 1 755671 756823 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6780792,essv6946436,essv6892259,essv6682789,essv6813123,essv6967856,essv6832527,essv6972236,essv6836112,essv6679102,essv6859129,essv6913942,essv6714176,essv6941722,essv6821118,essv6909990,essv6703800,essv6950479,essv6839905,essv6961444,essv6846928,essv6925638,essv6710539,essv6917364,essv6828947,essv6937615,essv6675157,essv6675156,essv6876308,essv6902471 M 96 0 29 "" SSM012,SSM013,SSM015,SSM016,SSM017,SSM019,SSM022,SSM023,SSM024,SSM025,SSM027,SSM028,SSM029,SSM032,SSM033,SSM034,SSM040,SSM042,SSM043,SSM068,SSM077,SSM079,SSM081,SSM082,SSM083,SSM084,SSM086,SSM088,SSM098 nsv4517850 1 755707 755892 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853069 M 10847 0 1 "" nsv1147722 1 755799 758800 CNV duplication John_et_al_2014 26484159 Sequencing nssv3996505 M 1 1 0 "" KWB1 nsv6138154 1 755822 756431 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902858 M 3202 1 0 "" nsv6328547 1 755890 757877 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205132 M 19652 1 0 "" nsv1076311 1 755899 758700 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3770041 M 1 1 0 "" KWP1 nsv3201037 1 755953 756268 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360498,nssv14360499 M 9 0 2 "" HG00733,NA19240 nsv5885827 1 756080 756254 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384279 M 914 0 1 "" nsv6138803 1 756123 757643 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902999 M 3202 0 1 "" nsv4766943 1 756240 756240 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16294183 M 25 1 0 "" dgv1e201 1 756248 758841 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2746029,esv2725027 M 96 0 38 "" SSM003,SSM009,SSM016,SSM017,SSM020,SSM024,SSM026,SSM027,SSM031,SSM032,SSM033,SSM039,SSM043,SSM045,SSM047,SSM049,SSM055,SSM056,SSM058,SSM066,SSM067,SSM069,SSM070,SSM071,SSM073,SSM079,SSM083,SSM085,SSM086,SSM087,SSM088,SSM091,SSM093,SSM094,SSM095,SSM096,SSM098,SSM100 esv3670980 1 756259 756259 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493087 M 20 1 0 "" nsv3533015 1 756259 756259 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377905,nssv14440470 M 9 2 0 "" HG00733,NA19240 nsv3928680 1 756259 756259 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15194812 M 1 1 0 "" HG002 nsv5612304 1 756259 756259 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067281 M 35 1 0 "" HG00731 nsv6048004 1 756259 756259 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528701 M 405 1 0 "" nsv3325562 1 756260 756260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474591,nssv14476674,nssv14481061,nssv14473911,nssv14485208,nssv14483651,nssv14477870,nssv14482248,nssv14490773 M 14 9 0 "" HG00268,HG00733,HG01352,HG02059,HG02818,HG04217,NA12878,NA19240,NA19434 esv1032937 1 756267 756267 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3703690 M 2 1 0 "" HuRef nsv3541670 1 756267 756267 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413424 M 9 1 0 "" HG00514 nsv3184815 1 756300 756350 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14434565 M 9 0 0 "" HG00514 esv2736138 1 756301 756354 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6846928 M 96 0 1 "" SSM086 esv2743807 1 756312 756571 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859129,essv6675157 M 96 0 2 "" SSM032,SSM088 esv2744918 1 756340 756432 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859129 M 96 0 1 "" SSM088 nsv6315697 1 756572 758562 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205134 M 19652 1 0 "" nsv4034505 1 756572 758603 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965355 M 10847 1 0 "" nsv5830666 1 757006 758905 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481783,nssv17481782,nssv17481781 M 914 0 0 "" dgv11n223 1 757081 763580 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6333018,nsv6335077 M 19652 2 0 LINC00115,LINC01128 dgv3n166 1 757421 834328 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4040204,nsv4045042 M 10847 0 2 FAM41C,LINC00115,LINC01128 nsv3206957 1 757531 761734 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14363169,nssv14363172,nssv14363170,nssv14363174,nssv14363171,nssv14363177,nssv14363175,nssv14363176,nssv14363173 M 9 9 0 LINC00115 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv6319558 1 757727 758134 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205137 M 19652 1 0 "" esv2747140 1 757864 758041 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6773385 M 96 0 1 "" SSM066 nsv6323647 1 757884 758874 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205138 M 19652 1 0 "" nsv1156253 1 757923 813318 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4019159 M 131 1 0 FAM41C,LINC00115,LINC01128 nsv6138425 1 757955 759021 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903009 M 3202 1 0 "" nsv5423787 1 758056 758139 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903010 M 3202 1 0 "" nsv5984951 1 758069 758731 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521275 M 405 0 1 "" nsv4041087 1 758115 758372 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850440 M 10847 0 1 "" nsv6329992 1 758247 758501 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063330 M 19652 0 1 "" nsv6318720 1 758442 758981 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205139 M 19652 1 0 "" nsv4035690 1 758559 758853 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853218 M 10847 0 1 "" nsv4536905 1 758751 758752 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024556 M 10847 1 0 "" nsv4537392 1 758761 758762 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023525 M 10847 1 0 "" nsv5881826 1 758830 758899 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17389186 M 914 0 1 "" nsv3325257 1 758831 758900 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491735 M 14 0 1 "" NA19434 nsv5830764 1 758906 764089 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480826,nssv17481785,nssv17481784 M 914 0 0 LINC00115,LINC01128 nsv5830485 1 759006 761049 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481786,nssv17480828,nssv17480827 M 914 0 0 "" nsv6330692 1 759781 761680 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205144 M 19652 1 0 LINC00115 dgv1n145 1 759822 851315 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nsv3114234,nsv3114728,nsv3113159,nsv3111281 M 467 17 0 FAM41C,LINC00115,LINC01128 sample11,sample119,sample145,sample150,sample170,sample178,sample231,sample262,sample29,sample304,sample351,sample358,sample409,sample46,sample69,sample7,sample78 nsv3204181 1 762350 770842 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259109,nssv14259107,nssv14259108,nssv14259110 M 9 0 4 LINC00115,LINC01128 HG00513,HG00514,NA19238,NA19239 nsv5726635 1 762566 762566 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17251042 M 3202 1 0 LINC00115 nsv5830766 1 762739 766641 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481797,nssv17481796,nssv17481798 M 914 0 0 LINC00115,LINC01128 nsv442837 1 766101 809773 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1617391,nssv1617946,nssv1616612,nssv1617502,nssv1616724,nssv1616613,nssv1617835,nssv1617613,nssv1618057,nssv1617724,nssv1618168 M 270 10 1 FAM41C,LINC01128 NA18564,NA18571,NA18572,NA18573,NA18620,NA18635,NA18947,NA18951,NA18972,NA18976,NA18990 esv2748251 1 766408 769112 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6759010,essv6695432 M 96 0 2 LINC01128 SSM006,SSM061 nsv3247706 1 766435 769112 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14365255,nssv14365249,nssv14365248,nssv14365247,nssv14365253,nssv14365252,nssv14365250,nssv14365251,nssv14365254 M 9 0 0 LINC01128 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5572747 1 766593 769111 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066486 M 35 0 1 LINC01128 HG00513 nsv5875674 1 766593 769111 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386030 M 914 0 1 LINC01128 esv2661847 1 766593 769112 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5518894,essv5523850,essv6030252,essv6418188,essv5557684,essv5758742,essv5654029,essv6137789,essv6064913,essv6482771,essv6555045,essv6047722,essv6192957,essv5616233,essv6027023,essv6355316,essv5781826,essv5952876,essv6295988,essv5520084,essv6287654,essv5803927,essv6041253,essv5500219,essv6563096,essv5900400,essv5809976,essv6276121,essv6067864,essv5539265,essv6309202,essv6345187,essv6509658,essv5519573,essv5403827,essv5590254,essv5632149,essv5448104,essv5935659,essv5813808,essv6542198,essv6512898,essv5583588,essv6021317,essv5451591,essv6060841,essv5901179,essv5469214,essv5707758 M 1151 0 49 LINC01128 HG00448,HG00463,HG00512,HG00513,HG00553,HG00557,HG00583,HG00584,HG00608,HG00614,HG00620,HG00651,HG00663,HG00690,HG01066,HG01204,HG01359,HG01494,NA18553,NA18557,NA18564,NA18565,NA18573,NA18592,NA18595,NA18609,NA18613,NA18620,NA18873,NA18951,NA18964,NA18984,NA18985,NA18990,NA18999,NA19004,NA19066,NA19070,NA19074,NA19080,NA19083,NA19087,NA19213,NA19239,NA19461,NA19473,NA19655,NA19657,NA19747 nsv5985090 1 766593 769112 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535097 M 405 0 1 LINC01128 nsv6333002 1 766593 769112 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064321 M 19652 0 1 LINC01128 nsv4733653 1 766594 769111 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16265578 M 25 0 1 LINC01128 nsv4390918 1 766594 769112 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15703001 M 174 0 1 LINC01128 nsv3324823 1 766595 769113 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479430 M 14 0 1 LINC01128 HG01352 nsv4038489 1 766596 769112 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853869 M 10847 0 1 LINC01128 nsv5419302 1 766596 769112 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903093 M 3202 0 1 LINC01128 nsv3176824 1 766597 769116 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14435140 M 9 0 0 LINC01128 HG00514 esv3584980 1 766600 769112 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839332,essv9839364,essv9839330,essv9839373,essv9839329,essv9839359,essv9839333,essv9839387,essv9839326,essv9839377,essv9839331,essv9839372,essv9839327,essv9839403,essv9839328,essv9839362,essv9839304,essv9839408,essv9839392,essv9839312,essv9839422,essv9839378,essv9839322,essv9839405,essv9839397,essv9839316,essv9839420,essv9839388,essv9839325,essv9839421,essv9839398,essv9839286,essv9839416,essv9839368,essv9839296,essv9839411,essv9839371,essv9839290,essv9839407,essv9839401,essv9839302,essv9839406,essv9839400,essv9839309,essv9839423,essv9839361,essv9839308,essv9839419,essv9839391,essv9839319,essv9839410,essv9839385,essv9839294,essv9839412,essv9839382,essv9839321,essv9839415,essv9839370,essv9839323,essv9839413,essv9839389,essv9839289,essv9839409,essv9839399,essv9839324,essv9839414,essv9839375,essv9839317,essv9839417,essv9839360,essv9839292,essv9839418,essv9839402,essv9839305,essv9839363,essv9839315,essv9839380,essv9839284,essv9839381,essv9839283,essv9839379,essv9839307,essv9839384,essv9839298,essv9839393,essv9839318,essv9839358,essv9839310,essv9839395,essv9839291,essv9839386,essv9839293,essv9839383,essv9839320,essv9839396,essv9839313,essv9839394,essv9839295,essv9839365,essv9839287,essv9839374,essv9839301,essv9839369,essv9839300,essv9839366,essv9839288,essv9839404,essv9839306,essv9839390,essv9839285,essv9839376,essv9839297,essv9839367,essv9839299,essv9839247,essv9839311,essv9839246,essv9839303,essv9839243,essv9839314,essv9839245,essv9839282,essv9839244,essv9839269,essv9839337,essv9839277,essv9839338,essv9839278,essv9839350,essv9839250,essv9839340,essv9839254,essv9839345,essv9839256,essv9839343,essv9839281,essv9839347,essv9839251,essv9839334,essv9839249,essv9839357,essv9839272,essv9839346,essv9839263,essv9839335,essv9839280,essv9839339,essv9839266,essv9839351,essv9839267,essv9839341,essv9839274,essv9839348,essv9839260,essv9839354,essv9839276,essv9839342,essv9839252,essv9839353,essv9839262,essv9839356,essv9839268,essv9839349,essv9839259,essv9839352,essv9839271,essv9839355,essv9839279,essv9839336,essv9839264,essv9839344,essv9839257,essv9839258,essv9839253,essv9839255,essv9839248,essv9839273,essv9839261,essv9839265,essv9839275,essv9839270 M 2504 0 181 LINC01128 HG00313,HG00409,HG00421,HG00448,HG00452,HG00473,HG00475,HG00513,HG00531,HG00553,HG00583,HG00584,HG00607,HG00608,HG00651,HG00662,HG00675,HG00864,HG00956,HG01054,HG01055,HG01066,HG01083,HG01122,HG01204,HG01250,HG01254,HG01341,HG01348,HG01350,HG01357,HG01359,HG01362,HG01378,HG01393,HG01462,HG01488,HG01489,HG01494,HG01597,HG01794,HG01807,HG01810,HG01811,HG01813,HG01848,HG01858,HG01864,HG01915,HG01927,HG01947,HG01953,HG01968,HG01971,HG01982,HG01997,HG02025,HG02029,HG02051,HG02052,HG02082,HG02086,HG02121,HG02130,HG02133,HG02140,HG02150,HG02165,HG02181,HG02185,HG02186,HG02298,HG02312,HG02339,HG02353,HG02375,HG02382,HG02383,HG02384,HG02391,HG02392,HG02401,HG02408,HG02586,HG02675,HG02807,HG02839,HG02878,HG02884,HG03006,HG03135,HG03547,HG03607,HG03631,HG03634,HG03716,HG03745,HG03755,HG03762,HG03824,HG03838,HG03844,HG03856,HG03875,HG03890,HG03937,HG04018,HG04076,HG04094,HG04176,HG04180,HG04210,HG04214,HG04219,HG04239,NA18528,NA18535,NA18552,NA18553,NA18558,NA18560,NA18565,NA18567,NA18570,NA18571,NA18573,NA18579,NA18592,NA18595,NA18608,NA18609,NA18613,NA18620,NA18623,NA18629,NA18749,NA18757,NA18873,NA18940,NA18951,NA18952,NA18962,NA18964,NA18966,NA18972,NA18976,NA18984,NA18985,NA18993,NA18999,NA19004,NA19011,NA19058,NA19066,NA19074,NA19079,NA19080,NA19087,NA19185,NA19213,NA19239,NA19310,NA19461,NA19473,NA19655,NA19657,NA19726,NA19729,NA19732,NA19741,NA19747,NA19755,NA19758,NA19762,NA20862,NA20882,NA20892,NA20900,NA20903,NA20911,NA21115 nsv5830768 1 766642 769089 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481807,nssv17481808,nssv17481806 M 914 0 0 LINC01128 nsv6319797 1 766681 767880 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064323 M 19652 0 1 LINC01128 esv2762248 1 768793 791010 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7007410 M 1109 0 1 LINC01128 SW_1162 nsv1159750 1 768793 818586 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4025990 M 369 1 0 FAM41C,LINC01128 nsv5830676 1 768990 770788 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480846,nssv17480844,nssv17480845 M 914 0 0 LINC01128 nsv5830490 1 771043 774916 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480847,nssv17481812,nssv17480848 M 914 0 0 LINC01128 nsv298 1 772399 792659 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3151 M 9 1 0 LINC01128 NA12878 esv3584981 1 773090 852664 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839425,essv9839424 M 2504 0 2 FAM41C,LINC01128 HG00743,HG01444 esv3584982 1 773090 852664 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839461,essv9839442,essv9839484,essv9839462,essv9839436,essv9839428,essv9839443,essv9839426,essv9839440,essv9839427,essv9839431,essv9839478,essv9839439,essv9839472,essv9839434,essv9839465,essv9839437,essv9839466,essv9839430,essv9839475,essv9839433,essv9839476,essv9839432,essv9839470,essv9839438,essv9839474,essv9839435,essv9839469,essv9839441,essv9839482,essv9839429,essv9839471,essv9839458,essv9839481,essv9839450,essv9839464,essv9839452,essv9839477,essv9839448,essv9839480,essv9839453,essv9839467,essv9839459,essv9839483,essv9839460,essv9839479,essv9839446,essv9839473,essv9839454,essv9839463,essv9839451,essv9839468,essv9839445,essv9839455,essv9839444,essv9839447,essv9839449,essv9839456,essv9839457 M 2504 59 0 FAM41C,LINC01128 HG00446,HG00457,HG00463,HG00475,HG00513,HG00543,HG00557,HG00593,HG00614,HG00620,HG00663,HG00675,HG00690,HG00692,HG00766,HG00867,HG00879,HG01028,HG01798,HG01840,HG01857,HG01867,HG01868,HG01871,HG02017,HG02028,HG02116,HG02181,HG02353,HG02373,HG02383,HG02384,HG02392,HG02398,HG02401,HG02512,HG04141,NA18535,NA18553,NA18557,NA18564,NA18567,NA18571,NA18572,NA18573,NA18620,NA18635,NA18639,NA18947,NA18951,NA18972,NA18989,NA18990,NA19006,NA19025,NA19070,NA19079,NA19083,NA20359 nsv4320551 1 774569 828435 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788836 M 10847 0 0 FAM41C,LINC01128 nsv6332438 1 774577 828440 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064385 M 19652 0 1 FAM41C,LINC01128 esv2749362 1 774752 774809 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6853155 M 96 0 1 LINC01128 SSM087 esv2713917 1 774759 774921 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6846930,essv6967857,essv6929011,essv6876319 M 96 0 4 LINC01128 SSM012,SSM020,SSM028,SSM086 nsv5984780 1 774822 774879 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529721 M 405 0 1 LINC01128 esv2715028 1 774866 774926 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6954639 M 96 0 1 LINC01128 SSM026 nsv5830772 1 775278 794681 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480851,nssv17480852,nssv17480850 M 914 0 0 LINC01128 esv3584983 1 775292 791968 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839498,essv9839496,essv9839497,essv9839499,essv9839495,essv9839491,essv9839494,essv9839492,essv9839486,essv9839493,essv9839485,essv9839489,essv9839488,essv9839487,essv9839490 M 2504 0 15 LINC01128 HG01177,HG01350,HG01357,HG01359,HG01374,HG01375,HG01389,HG01491,HG01498,HG01680,HG01766,HG01785,NA07051,NA18976,NA20812 nsv6316032 1 776567 817409 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205155 M 19652 1 0 FAM41C,LINC01128 esv3539675 1 776659 792588 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9738422 M 767 0 1 LINC01128 nsv6318103 1 776681 793180 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064406 M 19652 0 1 LINC01128 nsv5869376 1 776769 791880 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387390 M 914 0 1 LINC01128 esv2663916 1 776769 791881 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6257481,essv6143600,essv6094713,essv5826571,essv5463605,essv6020202,essv6345413 M 1151 0 7 LINC01128 HG01350,HG01357,HG01359,HG01374,HG01375,HG01389,HG01491 nsv4035427 1 776769 791881 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850980 M 10847 0 1 LINC01128 nsv6137940 1 776769 791881 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904109 M 3202 0 1 LINC01128 nsv6326629 1 777081 779580 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064412 M 19652 0 1 LINC01128 nsv1009537 1 777122 850675 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467703 M 11257 1 0 FAM41C,LINC01128 nsv6333482 1 778981 780080 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065050 M 19652 0 1 LINC01128 nsv3217324 1 782772 824604 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14270403,nssv14270404,nssv14270405 M 9 3 0 FAM41C,LINC01128 HG00512,HG00513,HG00731 nsv832980 1 783659 942417 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443740 M 95 1 0 C1orf170,FAM41C,HES4,KLHL17,LINC01128,LOC100130417,NOC2L,PLEKHN1,SAMD11 nsv5720086 1 787083 787083 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17238639 M 3202 1 0 LINC01128 nsv5675145 1 788209 788209 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17185278 M 3202 1 0 LINC01128 nsv5397415 1 788209 788260 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904130 M 3202 1 0 LINC01128 nsv3203191 1 788795 789187 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14372148,nssv14372149,nssv14372150 M 9 0 3 LINC01128 HG00512,HG00513,HG00514 nsv4740533 1 788836 788934 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270358 M 25 0 1 LINC01128 nsv5581698 1 788854 788951 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066516 M 35 0 1 LINC01128 HG00512 nsv5985197 1 788864 788917 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536405 M 405 0 1 LINC01128 nsv3950182 1 788888 788937 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15175693 M 1 0 1 LINC01128 HG002 esv2716139 1 788933 789202 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6950480 M 96 0 1 LINC01128 SSM025 nsv3179493 1 788944 789093 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14436919 M 9 0 0 LINC01128 HG00514 nsv5621637 1 788952 788952 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066517 M 35 1 0 LINC01128 NA19983 nsv3279887 1 788970 789022 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14435896 M 9 0 1 LINC01128 HG00514 nsv5984782 1 789011 789109 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523366 M 405 0 1 LINC01128 esv1517733 1 789021 789070 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4242314 M 2 0 1 LINC01128 HuRef nsv508924 1 789759 820329 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619757 M 4 1 0 FAM41C,LINC01128 NA10860 nsv5830497 1 790143 796297 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481824,nssv17481823,nssv17481822 M 914 0 0 LINC01128 nsv1074928 1 790696 790756 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768186 M 1 0 1 LINC01128 KWP1 nsv1133788 1 790697 790756 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969359 M 2 0 1 LINC01128 KWS2 nsv5830681 1 791372 799032 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481830,nssv17481828,nssv17481829 M 914 0 0 LINC01128 nsv5869149 1 794368 865114 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17378011 M 914 1 0 FAM41C,LINC01128,LOC100130417,SAMD11 nsv6333525 1 794368 865115 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205174 M 19652 1 0 FAM41C,LINC01128,LOC100130417,SAMD11 nsv4050524 1 794396 865117 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965394 M 10847 1 0 FAM41C,LINC01128,LOC100130417,SAMD11 nsv5568273 1 794490 799537 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066527 M 35 0 1 LINC01128 NA19650 nsv4046119 1 794492 799538 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851756 M 10847 0 1 LINC01128 nsv5415870 1 794492 799538 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904193 M 3202 0 1 LINC01128 nsv6317232 1 794492 799538 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065463 M 19652 0 1 LINC01128 esv3584984 1 794496 799549 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839500,essv9839501 M 2504 0 2 LINC01128 NA18976,NA19649 nsv945735 1 795375 796622 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752151,nssv1752080,nssv1752150,nssv1752084,nssv1752097,nssv1752145,nssv1752114,nssv1752093,nssv1752123,nssv1752082,nssv1752152,nssv1752138,nssv1752100,nssv1752086,nssv1752129,nssv1752092,nssv1752103,nssv1752081,nssv1752134,nssv1752083,nssv1752130,nssv1752137,nssv1752102,nssv1752089,nssv1752101,nssv1752065,nssv1752110,nssv1752064,nssv1752125,nssv1752075,nssv1752113,nssv1752091,nssv1752105,nssv1752143,nssv1752120,nssv1752070,nssv1752098,nssv1752067,nssv1752115,nssv1752096,nssv1752107,nssv1752077,nssv1752124,nssv1752066,nssv1752116,nssv1752136,nssv1752147,nssv1752076,nssv1752122,nssv1752088,nssv1752111,nssv1752090,nssv1752118,nssv1752079,nssv1752155,nssv1752095,nssv1752099,nssv1752139,nssv1752104,nssv1752087,nssv1752154,nssv1752072,nssv1752128,nssv1752071,nssv1752117,nssv1752141,nssv1752148,nssv1752142,nssv1752109,nssv1752063,nssv1752127,nssv1752074,nssv1752126,nssv1752073,nssv1752121,nssv1752059,nssv1752132,nssv1752078,nssv1752135,nssv1752094,nssv1752133,nssv1752140,nssv1752106,nssv1752085,nssv1752108,nssv1752069,nssv1752119,nssv1752062,nssv1752153,nssv1752144,nssv1752112,nssv1752060,nssv1752146,nssv1752068,nssv1752131,nssv1752061,nssv1752149 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5883565 1 795953 800473 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17370484 M 914 0 1 "" nsv5830684 1 796248 811037 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480870,nssv17480869,nssv17480868 M 914 0 0 FAM41C nsv945738 1 796622 801314 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752234,nssv1752201,nssv1752166,nssv1752197,nssv1752157,nssv1752194,nssv1752165,nssv1752219,nssv1752158,nssv1752216,nssv1752159,nssv1752218,nssv1752172,nssv1752203,nssv1752233,nssv1752205,nssv1752160,nssv1752209,nssv1752235,nssv1752198,nssv1752232,nssv1752211,nssv1752188,nssv1752213,nssv1752227,nssv1752220,nssv1752192,nssv1752199,nssv1752169,nssv1752222,nssv1752156,nssv1752207,nssv1752181,nssv1752202,nssv1752230,nssv1752200,nssv1752161,nssv1752214,nssv1752179,nssv1752195,nssv1752162,nssv1752217,nssv1752228,nssv1752206,nssv1752164,nssv1752196,nssv1752163,nssv1752221,nssv1752189,nssv1752225,nssv1752226,nssv1752212,nssv1752175,nssv1752215,nssv1752174,nssv1752208,nssv1752193,nssv1752204,nssv1752177,nssv1752224,nssv1752191,nssv1752210,nssv1752184,nssv1752223,nssv1752182,nssv1752183,nssv1752229,nssv1752178,nssv1752180,nssv1752231,nssv1752171,nssv1752173,nssv1752176,nssv1752170,nssv1752190,nssv1752185,nssv1752187,nssv1752168,nssv1752167,nssv1752186 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6317119 1 797208 1022608 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205176 M 19652 1 0 AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,RNF223,SAMD11 nsv5880990 1 798467 897575 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17375324 M 914 1 0 FAM41C,KLHL17,LOC100130417,NOC2L,SAMD11 nsv6321782 1 800114 810272 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065530 M 19652 0 1 FAM41C dgv2n152 1 800388 824782 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3228508,nsv3228037 M 9 8 0 FAM41C HG00512,HG00513,HG00514,HG00732,HG00733,NA19238,NA19239,NA19240 nsv3218940 1 800388 876307 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14273224 M 9 1 0 FAM41C,LOC100130417,SAMD11 HG00731 nsv945739 1 801314 826539 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752246,nssv1749317,nssv1752237,nssv1749319,nssv1749322,nssv1752249,nssv1752245,nssv1753185,nssv1752239,nssv1753195,nssv1752238,nssv1749318,nssv1753206,nssv1752250,nssv1753204,nssv1752259,nssv1753203,nssv1752242,nssv1753208,nssv1753192,nssv1753221,nssv1752244,nssv1753225,nssv1749313,nssv1753217,nssv1752243,nssv1753229,nssv1752247,nssv1749325,nssv1752257,nssv1753218,nssv1753196,nssv1753213,nssv1752258,nssv1753222,nssv1753193,nssv1749328,nssv1749320,nssv1753230,nssv1753194,nssv1753201,nssv1752253,nssv1749311,nssv1752255,nssv1753209,nssv1753191,nssv1753232,nssv1753197,nssv1753199,nssv1749323,nssv1753228,nssv1749321,nssv1753202,nssv1753188,nssv1753219,nssv1753190,nssv1753207,nssv1752251,nssv1753223,nssv1752248,nssv1749331,nssv1752241,nssv1749327,nssv1752254,nssv1749309,nssv1753187,nssv1749312,nssv1752240,nssv1749332,nssv1752236,nssv1749329,nssv1753186,nssv1753224,nssv1749314,nssv1749334,nssv1749316,nssv1749324,nssv1752252,nssv1749333,nssv1753184,nssv1753227,nssv1752256,nssv1753226,nssv1753189,nssv1753220,nssv1753212,nssv1753210,nssv1749330,nssv1753200,nssv1753216,nssv1749310,nssv1753198,nssv1753215,nssv1753231,nssv1753214,nssv1753211,nssv1753205 M 97 10 0 FAM41C HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5682752 1 801515 801515 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17195448 M 3202 1 0 "" nsv5401906 1 801515 801566 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904221 M 3202 1 0 "" nsv5623243 1 801939 801939 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066546 M 35 1 0 "" HG03065 nsv5574478 1 801986 802083 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066547 M 35 0 1 "" HG03371 nsv6058195 1 802008 802008 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521494 M 405 1 0 "" nsv4751126 1 802024 802024 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16275510 M 25 1 0 "" nsv5579437 1 802055 802299 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066548 M 35 0 1 "" HG02492 nsv3056441 1 802151 802151 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14016907 M 2 1 0 "" NA12878 nsv5830827 1 802226 807831 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481848,nssv17480875,nssv17481849 M 914 0 0 FAM41C nsv3533033 1 802231 802231 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391726 M 9 1 0 "" NA19240 nsv3926959 1 802231 802231 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15186513 M 1 1 0 "" HG002 nsv5623257 1 802231 802231 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066550 M 35 1 0 "" HG00731 nsv3325581 1 802232 802232 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478943 M 14 1 0 "" NA19240 esv1069885 1 802251 802251 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3978908 M 2 1 0 "" HuRef nsv3535798 1 802377 802377 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413425 M 9 1 0 "" HG00514 nsv4758557 1 803849 803849 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16267897 M 25 1 0 FAM41C nsv5606364 1 803850 803850 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067056 M 35 1 0 FAM41C NA12329 nsv6052122 1 803857 803857 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536490 M 405 1 0 FAM41C nsv5729972 1 803865 803865 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17247361 M 3202 1 0 FAM41C nsv4518347 1 804000 812000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965413 M 10847 1 0 FAM41C dgv4n111 1 804456 850017 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nsv1160643,nsv1159974 M 369 3 0 FAM41C nsv6328334 1 807590 843494 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205191 M 19652 1 0 FAM41C nsv3280707 1 807924 808134 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412442 M 9 0 1 FAM41C HG00514 nsv5564926 1 807937 808039 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067064 M 35 0 1 FAM41C NA19983 esv3683303 1 807937 808041 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468050 M 20 0 1 FAM41C nsv5617022 1 807946 807946 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067065,nssv17067066 M 35 2 0 FAM41C NA19239,NA19983 nsv6046752 1 808013 808013 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536674 M 405 1 0 FAM41C nsv5581718 1 808049 808258 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067067 M 35 0 1 FAM41C HG00512 nsv3324838 1 808050 808259 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482991 M 14 0 1 FAM41C HG02818 nsv5984969 1 808053 808274 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523297 M 405 0 1 FAM41C nsv5433126 1 808203 809880 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904222 M 3202 0 1 FAM41C nsv5616950 1 808220 808220 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067068 M 35 1 0 FAM41C HG02011 nsv5830523 1 808279 811187 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481562,nssv17481858,nssv17481857 M 914 0 0 FAM41C nsv6330638 1 808322 808532 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064495 M 19652 0 1 FAM41C nsv3325587 1 808323 808323 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479774 M 14 1 0 FAM41C HG02106 nsv4034405 1 808349 808487 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851849 M 10847 0 1 FAM41C nsv6051840 1 808351 808351 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529209 M 405 1 0 FAM41C nsv5614463 1 808366 808366 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067069 M 35 1 0 FAM41C NA19983 nsv6049012 1 808453 808453 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525800 M 405 1 0 FAM41C nsv428334 1 809751 1155949 CNV gain Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv450908 M 62 1 0 AGRN,C1orf159,C1orf170,FAM41C,HES4,ISG15,KLHL17,LOC100130417,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10 HGDP00467 esv3325034 1 811073 812079 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652099 M 185 1 0 FAM41C NA19240 esv991325 1 811077 811838 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564868 M 3 1 0 FAM41C HuRef nsv1073556 1 811199 811900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766392 M 1 0 1 FAM41C KWP1 nsv5985209 1 811210 811792 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17523001 M 405 1 0 FAM41C nsv4751745 1 811215 811215 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16278379 M 25 1 0 FAM41C nsv1142735 1 811300 811700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994234 M 2 0 1 FAM41C KWS1 nsv3536849 1 811375 811375 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440471 M 9 1 0 FAM41C HG00733 nsv6058797 1 811380 811380 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537068 M 405 1 0 FAM41C nsv3535743 1 811385 811385 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390152 M 9 1 0 FAM41C NA19240 nsv3324839 1 811391 811391 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477869 M 14 1 0 FAM41C HG02106 nsv5606179 1 811394 811394 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067083,nssv17067084 M 35 2 0 FAM41C HG00512,HG03125 nsv2801709 1 811399 811399 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681854 M 2 1 0 FAM41C nsv3324840 1 811399 811399 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478594,nssv14478170,nssv14475453,nssv14488417,nssv14491096,nssv14475225,nssv14476531 M 14 7 0 FAM41C CHM1,CHM13,HG00268,HG00733,HG02106,NA12878,NA19240 nsv3325960 1 811401 811401 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489797,nssv14485474,nssv14484134 M 14 3 0 FAM41C HG00733,NA12878,NA19240 nsv3946753 1 811404 811404 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15186654 M 1 1 0 FAM41C HG002 nsv5624193 1 811404 811404 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067085 M 35 1 0 FAM41C HG00731 nsv3534331 1 811405 811405 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413426 M 9 1 0 FAM41C HG00514 nsv3534124 1 811412 811412 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382508 M 9 1 0 FAM41C NA19240 nsv5540382 1 811430 811433 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904224 M 3202 1 0 FAM41C nsv2802433 1 811437 811437 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690719 M 2 1 0 FAM41C nsv6047145 1 811455 811455 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519359 M 405 1 0 FAM41C nsv3532404 1 811460 811460 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388946 M 9 1 0 FAM41C NA19240 nsv3538479 1 811471 811471 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413427 M 9 1 0 FAM41C HG00514 nsv3538047 1 811509 811509 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413429 M 9 1 0 FAM41C HG00514 nsv5623672 1 811627 811627 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067086 M 35 1 0 FAM41C NA19239 nsv5609428 1 811680 811680 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067087 M 35 1 0 FAM41C HG00731 nsv3324841 1 811755 811755 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476074,nssv14490209 M 14 2 0 FAM41C HG00268,NA12878 nsv2802609 1 811761 811761 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678630 M 2 1 0 FAM41C nsv3325589 1 811761 811761 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478351 M 14 1 0 FAM41C NA19240 nsv5830786 1 811888 814177 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481860,nssv17481859,nssv17481861 M 914 0 0 FAM41C nsv5726959 1 812282 812282 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17245834,nssv17234695 M 3202 2 0 "" dgv2n67 1 812998 1361880 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv825030,nsv826141 M 31 2 0 ACAP3,AGRN,ANKRD65,AURKAIP1,B3GALT6,C1orf159,C1orf170,CCNL2,CPSF3L,DVL1,FAM132A,GLTPD1,HES4,ISG15,KLHL17,LOC100130417,LOC148413,LOC254099,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,MIR6808,MRPL20,MXRA8,NOC2L,PLEKHN1,PUSL1,RNF223,SAMD11,SCNN1D,SDF4,TAS1R3,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 NA18968,NA18969 nsv5719673 1 813461 813461 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17252168 M 3202 1 0 "" nsv5830525 1 814716 817782 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481563,nssv17481564,nssv17481865 M 914 0 0 "" nsv950387 1 815101 826200 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997137 M 1 1 0 "" BILGI_BIOE nsv1122279 1 815600 815683 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969730 M 2 0 1 "" KWS2 esv3674888 1 816218 816219 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496602 M 20 0 0 "" nsv1133789 1 817209 817273 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969360 M 2 0 1 "" KWS2 nsv1124557 1 817700 825300 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976611 M 2 1 0 "" KWS2 nsv5830529 1 817989 829109 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481895,nssv17481574,nssv17481894 M 914 0 0 "" nsv5830792 1 817990 825514 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481892,nssv17481891,nssv17481893 M 914 0 0 "" nsv3932316 1 818024 818111 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177788 M 1 0 1 "" HG002 nsv5984970 1 818024 818111 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530636 M 405 0 1 "" nsv1145304 1 818330 818404 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982395 M 2 0 1 "" KWS1 nsv4516656 1 818500 824000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965421 M 10847 1 0 "" nsv4462122 1 818807 818808 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024191 M 10847 1 0 "" nsv5540383 1 818820 818866 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904317 M 3202 1 0 "" nsv5415470 1 819987 826399 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904318 M 3202 0 1 "" esv3382589 1 820803 820855 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740932 M 185 1 0 "" NA12878 nsv4033895 1 821664 837827 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965430 M 10847 1 0 "" nsv6321406 1 821664 837827 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205204 M 19652 1 0 "" nsv6332240 1 822127 838099 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064869 M 19652 0 1 "" esv3358119 1 822853 822861 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863667,essv7863668 M 185 2 0 "" NA12005,NA18953 nsv4560757 1 823258 823259 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022250 M 10847 1 0 "" nsv1137714 1 823373 823426 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990215 M 2 0 1 "" KWS2 esv3684099 1 823760 823842 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468766 M 20 0 1 "" nsv5578826 1 823871 823951 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067293 M 35 0 1 "" HG02587 nsv4048595 1 823921 823997 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963004 M 10847 1 0 "" esv3400943 1 825053 825053 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8825303 M 185 1 0 "" NA19240 nsv5830844 1 825945 840126 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482435,nssv17482434 M 914 0 0 "" nsv945562 1 826539 834209 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572157,nssv2572166,nssv2572154,nssv2572179,nssv2572156,nssv2572168,nssv2572151,nssv2572167,nssv2572155,nssv2572187,nssv2572158,nssv2572182,nssv2572150,nssv2572176,nssv2572160,nssv2572185,nssv2572153,nssv2572181,nssv2572159,nssv2572180,nssv2572149,nssv2572169,nssv2572152,nssv2572184,nssv2572163,nssv2572194,nssv2572161,nssv2572191,nssv2572162,nssv2572190,nssv2572174,nssv2572183,nssv2572188,nssv2572175,nssv2572189,nssv2572196,nssv2572171,nssv2572186,nssv2572177,nssv2572164,nssv2572195,nssv2572173,nssv2572178,nssv2572165,nssv2572170,nssv2572172,nssv2572193,nssv2572192 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv509035 1 826786 921104 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621079,nssv619758 M 4 2 0 C1orf170,KLHL17,LOC100130417,NOC2L,PLEKHN1,SAMD11 NA10860,NA15510 esv3672779 1 827304 827442 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16494704 M 20 0 1 "" nsv4279519 1 829181 829182 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024628,nssv16022931 M 10847 2 0 "" nsv5415252 1 830633 834492 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905660 M 3202 0 1 "" nsv6333026 1 830681 834480 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064930 M 19652 0 1 "" esv3684935 1 832091 832091 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16469518 M 20 1 0 "" nsv950451 1 834801 1029900 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997148 M 1 0 1 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,RNF223,SAMD11 BILGI_BIOE nsv5830708 1 836193 854476 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481590,nssv17481591 M 914 0 0 LOC100130417 nsv5830538 1 838011 868895 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482448 M 914 0 0 LOC100130417,SAMD11 dgv3n152 1 839427 841026 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3192546,nsv3199266 M 9 0 6 "" HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv1112514 1 839500 840500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966612 M 2 0 1 "" KWS2 nsv1074399 1 839599 840800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772204 M 1 0 1 "" KWP1 nsv6329173 1 839773 855855 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064990 M 19652 0 1 LOC100130417 nsv4034991 1 839849 839950 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963021 M 10847 1 0 "" nsv3282148 1 839852 839949 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439097,nssv14403463 M 9 0 2 "" HG00733,NA19240 nsv5577190 1 839858 839955 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066569 M 35 0 1 "" HG00732 esv3675717 1 839858 839957 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497349 M 20 0 1 "" nsv2801713 1 839859 839956 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690885 M 2 0 1 "" nsv3325974 1 839859 839956 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485209,nssv14479725,nssv14478463,nssv14487508,nssv14483160,nssv14474529 M 14 0 6 "" CHM1,HG00733,HG01352,HG02818,NA19240,NA19434 nsv5985021 1 839865 839985 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523005 M 405 0 1 "" nsv4756687 1 839873 839873 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16271941 M 25 1 0 "" nsv4534482 1 839906 839907 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024696 M 10847 1 0 "" nsv5621264 1 839919 839919 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066571 M 35 1 0 "" HG00513 nsv3539152 1 839936 839936 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413430 M 9 1 0 "" HG00514 nsv6042964 1 839936 839936 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536460 M 405 1 0 "" nsv3325312 1 839958 840020 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472397 M 14 0 1 "" NA19434 nsv2801714 1 839972 839972 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688048 M 2 1 0 "" nsv3325976 1 839972 839972 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486231 M 14 1 0 "" CHM13 nsv4537581 1 840008 840009 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024209 M 10847 1 0 "" nsv5606446 1 840016 840016 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066572 M 35 1 0 "" NA19238 nsv4534368 1 840016 840017 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023615 M 10847 1 0 "" nsv3325977 1 840037 840037 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479423 M 14 1 0 "" HG04217 nsv5553435 1 840098 840113 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905671 M 3202 1 0 "" nsv5615424 1 840392 840392 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068242 M 35 1 0 "" NA19239 nsv5873457 1 840392 840447 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17405312 M 914 0 1 "" nsv3325598 1 840407 840407 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480408 M 14 1 0 "" NA19240 nsv3541275 1 840434 840434 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388054 M 9 1 0 "" NA19240 nsv5876231 1 842319 842376 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17408047 M 914 0 1 "" esv3661347 1 842319 842389 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16484415 M 20 0 0 "" dgv4n166 1 842319 842412 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4042148,nsv4517448 M 10847 0 2 "" nsv4744155 1 844039 844094 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16261672 M 25 0 1 "" nsv5985118 1 844061 844116 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519663 M 405 0 1 "" nsv5985119 1 844107 844169 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530456 M 405 0 1 "" nsv3281410 1 844299 844480 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440489 M 9 0 1 "" HG00733 nsv3282080 1 844344 844435 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14404878 M 9 0 1 "" NA19240 nsv2802613 1 844344 844479 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13699237 M 2 0 1 "" nsv3324857 1 844344 844479 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475785,nssv14477092,nssv14485385,nssv14480547,nssv14473304,nssv14490901 M 14 0 6 "" CHM1,CHM13,HG00268,HG00733,HG02106,NA19240 nsv3325979 1 844344 844699 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472437 M 14 0 1 "" HG02059 nsv3050567 1 844371 844624 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14031528 M 2 0 1 "" NA12878 nsv5567698 1 844386 844475 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067094 M 35 0 1 "" HG00732 nsv3324858 1 844414 844504 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487120,nssv14474371 M 14 0 2 "" HG01352,NA19434 nsv5984981 1 844428 844827 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520687 M 405 0 1 "" nsv5580628 1 844549 844859 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067095 M 35 0 1 "" HG00731 nsv3946266 1 844549 844860 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15179893 M 1 0 1 "" HG002 esv1562509 1 844600 844866 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3716763 M 2 0 1 "" HuRef nsv3054047 1 844631 844717 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14026420 M 2 0 1 "" NA12878 nsv3325317 1 844653 845008 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474097 M 14 0 1 "" HG02059 nsv5608289 1 844725 844725 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067097 M 35 1 0 "" NA19238 nsv5570165 1 844725 844905 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067096 M 35 0 1 "" HG00732 nsv2801716 1 844743 844878 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13698766 M 2 0 1 "" nsv3324859 1 844743 844878 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476587,nssv14489973,nssv14486035,nssv14479037,nssv14486551,nssv14484496,nssv14490976,nssv14476006,nssv14487292,nssv14479905,nssv14478540,nssv14484250 M 14 0 12 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv3280711 1 844749 844885 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14406309,nssv14413622 M 9 0 2 "" HG00514,NA19240 nsv3197740 1 844773 849676 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384437,nssv14382499,nssv14377935,nssv14379824,nssv14372920,nssv14386080,nssv14373100,nssv14390633,nssv14390842 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv3280519 1 844776 844867 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438965 M 9 0 1 "" HG00733 nsv3063436 1 844792 844884 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14035235 M 2 0 1 "" NA12878 nsv5576399 1 844799 844888 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067098 M 35 0 1 "" HG00512 nsv4044232 1 844900 850000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963031 M 10847 1 0 "" nsv3281957 1 844913 845088 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14408371,nssv14414542 M 9 0 2 "" HG00514,NA19240 nsv5985025 1 845050 845136 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523592 M 405 0 1 "" nsv3324861 1 845103 845278 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472952,nssv14477387,nssv14472266 M 14 0 3 "" HG02818,HG04217,NA19434 dgv2n209 1 845360 864540 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5830540,nsv5830711 M 914 0 0 LOC100130417,SAMD11 nsv4048266 1 845521 847491 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853449 M 10847 0 1 "" nsv5830806 1 846124 850376 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481594,nssv17482454 M 914 0 0 "" nsv4462446 1 849315 849316 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025442 M 10847 1 0 "" nsv5830808 1 849677 860719 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482462 M 914 0 0 LOC100130417 esv2762302 1 850017 1041700 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7008521 M 1109 1 0 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,RNF223,SAMD11 SW_1358 dgv6n54 1 852772 870310 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544896,nsv544894 M 17421 0 2 LOC100130417,SAMD11 nsv544895 1 852772 990280 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707675 M 17421 0 1 AGRN,C1orf170,HES4,ISG15,KLHL17,LOC100130417,NOC2L,PLEKHN1,SAMD11 nsv5423309 1 852825 852897 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905682 M 3202 1 0 "" nsv1074403 1 859199 861000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763507 M 1 0 1 "" KWP1 nsv544897 1 860045 870310 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707678,nssv707677 M 17421 1 1 SAMD11 nsv544898 1 860045 879317 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707679 M 17421 1 0 SAMD11 dgv7n54 1 861134 870645 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544899,nsv544900 M 17421 0 5 SAMD11 dgv8n54 1 861134 879317 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544901,nsv544907 M 17421 0 2 SAMD11 dgv9n54 1 861134 888220 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544903,nsv544902 M 17421 0 2 NOC2L,SAMD11 nsv6042193 1 863543 863543 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536974 M 405 1 0 SAMD11 nsv5830542 1 863741 869095 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482475 M 914 0 0 SAMD11 nsv544904 1 864938 870257 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv707689,nssv707688 M 17421 2 0 SAMD11 dgv10n54 1 864938 870645 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544905,nsv544906 M 17421 5 7 SAMD11 nsv3208987 1 866064 876307 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14262544,nssv14262546,nssv14262543,nssv14262545 M 9 0 4 SAMD11 HG00512,HG00514,NA19238,NA19240 nsv1074938 1 869099 870500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767822 M 1 0 1 SAMD11 KWP1 nsv1142736 1 869100 870100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994235 M 2 0 1 SAMD11 KWS1 dgv3n209 1 869219 870299 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5881607,nsv5881903 M 914 0 2 SAMD11 esv3550787 1 869249 870391 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9749534 M 767 0 1 SAMD11 nsv511670 1 869251 870860 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626307 M 1 0 1 SAMD11 1 nsv4048580 1 869279 870105 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963806 M 10847 1 0 SAMD11 esv27608 1 869310 870347 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv10036 M 40 24 12 SAMD11 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19257 nsv2802623 1 869340 869927 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13692093 M 2 0 1 SAMD11 nsv3325997 1 869340 869927 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472419,nssv14476271,nssv14489175,nssv14473311,nssv14482830,nssv14488079,nssv14490427,nssv14484753 M 14 0 8 SAMD11 CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,NA12878 nsv5584519 1 869341 869480 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067340 M 35 0 1 SAMD11 HG03486 nsv3324880 1 869342 869593 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472476,nssv14486149 M 14 0 2 SAMD11 HG01352,NA19240 nsv4745188 1 869344 870130 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16264486 M 25 0 1 SAMD11 nsv3325336 1 869346 869457 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486642 M 14 0 1 SAMD11 NA19240 dgv4n152 1 869346 869570 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282411,nsv3282947 M 9 0 3 SAMD11 HG00514,HG00733,NA19240 nsv3280640 1 869346 869878 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14442131 M 9 0 1 SAMD11 HG00733 nsv5618052 1 869365 869365 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067341 M 35 1 0 SAMD11 HG02011 nsv6054965 1 869365 869365 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523878 M 405 1 0 SAMD11 nsv5985047 1 869372 869470 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518386 M 405 0 1 SAMD11 nsv5582426 1 869388 869695 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067342 M 35 0 1 SAMD11 HG00732 nsv6050870 1 869403 869403 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537384 M 405 1 0 SAMD11 esv989364 1 869415 870347 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586109 M 3 0 1 SAMD11 HuRef nsv3063448 1 869417 870256 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14036199 M 2 0 1 SAMD11 NA12878 dgv1n172 1 869431 870338 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4433187,nsv4433185,nsv4433186,nsv4433188 M 15 0 4 SAMD11 BTQ055,MDQ025,MDQ045,NB12 dgv11n54 1 869443 870257 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544909,nsv544908,nsv544920,nsv544916,nsv544915 M 17421 0 8 SAMD11 dgv12n54 1 869443 870310 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544911,nsv544910,nsv544917,nsv544921,nsv544922,nsv544926,nsv544927 M 17421 99 267 SAMD11 dgv13n54 1 869443 870645 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544912,nsv544923 M 17421 6 24 SAMD11 dgv14n54 1 869443 873558 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544913,nsv544918,nsv544929 M 17421 4 0 SAMD11 dgv15n54 1 869443 879317 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544933,nsv544914,nsv544925 M 17421 0 17 SAMD11 nsv5565763 1 869444 870255 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067343 M 35 0 1 SAMD11 HG00731 nsv3935439 1 869444 870284 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180071 M 1 0 1 SAMD11 HG002 esv3674431 1 869467 870309 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16496192 M 20 0 0 SAMD11 nsv6040465 1 869468 869468 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523146 M 405 1 0 SAMD11 esv1732269 1 869471 869583 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4110931 M 2 0 1 SAMD11 HuRef nsv3325998 1 869472 869586 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478396 M 14 0 1 SAMD11 NA19434 nsv5985461 1 869472 869680 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525684 M 405 0 1 SAMD11 nsv5984996 1 869472 870293 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528009 M 405 0 1 SAMD11 nsv6043485 1 869477 869477 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522446 M 405 1 0 SAMD11 nsv5611946 1 869481 869481 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067344 M 35 1 0 SAMD11 HG03125 nsv5613605 1 869505 869505 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067345 M 35 1 0 SAMD11 NA19983 esv2853903 1 869527 870339 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7123470 M 1 0 1 SAMD11 HuRef nsv3325999 1 869535 869535 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479228,nssv14490161,nssv14481293 M 14 3 0 SAMD11 HG00268,HG02059,HG02106 nsv955441 1 869544 870300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000435 M 1 0 1 SAMD11 BILGI_BIOE nsv5985131 1 869546 869637 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527583 M 405 0 1 SAMD11 nsv544919 1 869550 870034 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708056,nssv707973,nssv707837,nssv708022,nssv707993,nssv707953,nssv708006,nssv707896,nssv707933,nssv708089,nssv707886,nssv707948,nssv707952,nssv707988,nssv707992,nssv707866,nssv707990,nssv707951,nssv707832,nssv707989,nssv707991,nssv707833,nssv707831,nssv707834,nssv707882,nssv707828,nssv707994,nssv708080,nssv707885,nssv707955,nssv708058,nssv707954,nssv708005,nssv707851,nssv707860,nssv707997,nssv707889,nssv707936,nssv707964,nssv707939,nssv707836,nssv708079,nssv707880,nssv707950,nssv707995,nssv707916,nssv707911,nssv707931,nssv707935,nssv707996,nssv707876,nssv708057,nssv707835,nssv707923,nssv707945,nssv707956,nssv707919,nssv708063,nssv707863,nssv707934,nssv707869,nssv708059,nssv708004,nssv708003,nssv708002,nssv707998,nssv707884,nssv707999,nssv708000,nssv708001,nssv707976,nssv708081,nssv708008,nssv707838,nssv707873,nssv707958,nssv707825,nssv707957,nssv708007,nssv707892,nssv707949,nssv707910,nssv707914,nssv707938,nssv707881,nssv708061,nssv707827,nssv707947,nssv707918,nssv707824,nssv707821,nssv707843,nssv707865,nssv707839,nssv708013,nssv708062,nssv707937,nssv707888,nssv707822,nssv708012,nssv707841,nssv708009,nssv708060,nssv707818,nssv707859,nssv707926,nssv707842,nssv708010,nssv708011,nssv707840,nssv708021,nssv708014,nssv708082,nssv707943,nssv707850,nssv707959,nssv707975,nssv707924,nssv707844,nssv707823,nssv708015,nssv708016,nssv707887,nssv708020,nssv707849,nssv707944,nssv708087,nssv707893,nssv707819,nssv708086,nssv707895,nssv707904,nssv708019,nssv708017,nssv707974,nssv707942,nssv707922,nssv707894,nssv707848,nssv707847,nssv708085,nssv707872,nssv707962,nssv707868,nssv708018,nssv708083,nssv707817,nssv707846,nssv707961,nssv707925,nssv708088,nssv707858,nssv708084,nssv707963,nssv707845,nssv707960,nssv707967,nssv708078,nssv708023,nssv707932,nssv708091,nssv707906,nssv708066,nssv707912,nssv708040,nssv707907,nssv707977,nssv707965,nssv707978,nssv707900,nssv707883,nssv707902,nssv707987,nssv708032,nssv708076,nssv707897,nssv708031,nssv707867,nssv708025,nssv707857,nssv708024,nssv707972,nssv707820,nssv708027,nssv707871,nssv708026,nssv708055,nssv707879,nssv708030,nssv707903,nssv708064,nssv707946,nssv708028,nssv708065,nssv708029,nssv708090,nssv708067,nssv708039,nssv708094,nssv707853,nssv707909,nssv707852,nssv708034,nssv708070,nssv707874,nssv707877,nssv708033,nssv707966,nssv707864,nssv707920,nssv708036,nssv707830,nssv708069,nssv708038,nssv708035,nssv707913,nssv708093,nssv708037,nssv708092,nssv707901,nssv707905,nssv707891,nssv708068,nssv707908,nssv707971,nssv707979,nssv708042,nssv707969,nssv707940,nssv707917,nssv708041,nssv707986,nssv707985,nssv707980,nssv708054,nssv707968,nssv707984,nssv707921,nssv707829,nssv708048,nssv708049,nssv707981,nssv707854,nssv708077,nssv708043,nssv708075,nssv707941,nssv708045,nssv707826,nssv708044,nssv708073,nssv708071,nssv708046,nssv708047,nssv708072,nssv707927,nssv707878,nssv707899,nssv707898,nssv707856,nssv707970,nssv707915,nssv707861,nssv707870,nssv708052,nssv707862,nssv708053,nssv707982,nssv707890,nssv707930,nssv708074,nssv707929,nssv708051,nssv707875,nssv708050,nssv707983,nssv707855,nssv707928 M 17421 0 278 SAMD11 nsv544924 1 869550 873558 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708370,nssv708373,nssv708372,nssv708371,nssv708368,nssv708369 M 17421 1 5 SAMD11 nsv2801723 1 869556 869556 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680360 M 2 1 0 SAMD11 nsv3326253 1 869556 869556 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479303,nssv14472490 M 14 2 0 SAMD11 CHM1,HG00733 nsv3324881 1 869557 869613 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472424 M 14 0 1 SAMD11 NA19240 nsv6138286 1 869572 870317 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905784 M 3202 0 1 SAMD11 esv1062785 1 869596 870324 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4275138 M 2 0 1 SAMD11 HuRef dgv5n152 1 869598 870142 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3279779,nsv3281894 M 9 0 2 SAMD11 HG00514,NA19240 nsv544928 1 869603 870645 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708410 M 17421 1 0 SAMD11 nsv3324882 1 869612 869612 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488245 M 14 1 0 SAMD11 HG00268 nsv3325337 1 869640 869640 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480957,nssv14472724,nssv14487409,nssv14488606,nssv14490079 M 14 5 0 SAMD11 HG00268,HG00733,HG02059,HG02106,NA19434 nsv3324883 1 869738 869738 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482303,nssv14489336,nssv14475157 M 14 3 0 SAMD11 HG00268,HG00733,NA19434 nsv2802353 1 869753 869753 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690325 M 2 1 0 SAMD11 nsv3325338 1 869753 869753 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472958,nssv14483387,nssv14486584,nssv14482847 M 14 4 0 SAMD11 CHM1,HG00268,HG00733,NA19434 nsv5621769 1 869757 869757 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067346 M 35 1 0 SAMD11 HG03125 nsv5985048 1 869792 869849 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521696 M 405 0 1 SAMD11 nsv5831039 1 869793 874290 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482483 M 914 0 0 SAMD11 nsv544930 1 869809 870310 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708416,nssv708422,nssv708413,nssv708418,nssv708417,nssv708420,nssv708419,nssv708433,nssv708421,nssv708414,nssv708428,nssv708423,nssv708415,nssv708432,nssv708426,nssv708427,nssv708424,nssv708425,nssv708431,nssv708430,nssv708429,nssv708412,nssv708437,nssv708434,nssv708440,nssv708436,nssv708435,nssv708439,nssv708438,nssv708441 M 17421 0 30 SAMD11 dgv16n54 1 869809 870645 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544934,nsv544931 M 17421 0 9 SAMD11 nsv544932 1 869809 873558 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708450 M 17421 0 1 SAMD11 nsv3326000 1 869842 869842 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487372,nssv14478695 M 14 2 0 SAMD11 HG02059,HG02106 nsv5984997 1 869863 870208 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536251 M 405 0 1 SAMD11 nsv6045738 1 869876 869876 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537389 M 405 1 0 SAMD11 nsv5985462 1 869906 869970 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518395 M 405 0 1 SAMD11 nsv3325339 1 869917 869973 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491883,nssv14489240 M 14 0 2 SAMD11 NA19240,NA19434 nsv2801724 1 869934 869934 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683963 M 2 1 0 SAMD11 nsv3325340 1 869934 869934 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482353 M 14 1 0 SAMD11 CHM1 nsv3534012 1 869938 869938 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440472 M 9 1 0 SAMD11 HG00733 nsv3326001 1 869953 869953 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480069 M 14 1 0 SAMD11 HG00268 nsv5619126 1 869953 869953 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067347 M 35 1 0 SAMD11 NA20847 nsv5619501 1 869957 869957 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067348 M 35 1 0 SAMD11 NA19238 nsv2802442 1 869962 870045 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13686770 M 2 0 1 SAMD11 nsv3326254 1 869962 870045 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473602,nssv14491734,nssv14478159,nssv14479142,nssv14476309,nssv14488989,nssv14474883,nssv14486881 M 14 0 8 SAMD11 CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,NA12878 nsv3324884 1 869999 870225 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488928 M 14 0 1 SAMD11 NA19240 nsv3325341 1 870005 870005 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482074 M 14 1 0 SAMD11 HG02059 nsv3324885 1 870070 870070 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474230 M 14 1 0 SAMD11 HG00733 nsv2802443 1 870074 870129 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13684696 M 2 0 1 SAMD11 nsv3326002 1 870074 870129 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474917,nssv14475287,nssv14475863,nssv14472342,nssv14481278,nssv14476900,nssv14484235,nssv14475468 M 14 0 8 SAMD11 CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,NA12878 nsv6044178 1 870087 870087 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518165 M 405 1 0 SAMD11 nsv2802624 1 870094 870094 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691015 M 2 1 0 SAMD11 nsv3326003 1 870094 870094 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486336 M 14 1 0 SAMD11 CHM1 nsv3325342 1 870116 870173 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476965 M 14 0 1 SAMD11 HG01352 nsv3325343 1 870117 870117 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486071 M 14 1 0 SAMD11 HG02059 nsv3281216 1 870117 870173 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14445296 M 9 0 1 SAMD11 HG00733 nsv3326004 1 870144 870144 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490668 M 14 1 0 SAMD11 HG02059 nsv6054706 1 870155 870155 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530844 M 405 1 0 SAMD11 nsv3324886 1 870172 870172 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486147 M 14 1 0 SAMD11 HG00733 nsv3325344 1 870173 870173 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474269,nssv14473667,nssv14484226 M 14 3 0 SAMD11 HG00268,HG02059,HX1 nsv2802625 1 870173 870284 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13694000 M 2 0 1 SAMD11 nsv3324887 1 870173 870284 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491078,nssv14472737,nssv14486061,nssv14479234,nssv14486388,nssv14477087,nssv14487335,nssv14476456 M 14 0 8 SAMD11 CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,NA12878 dgv6n152 1 870173 870299 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282701,nsv3282570,nsv3279658 M 9 0 3 SAMD11 HG00514,HG00733,NA19240 nsv6053167 1 870175 870175 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523229 M 405 1 0 SAMD11 nsv5984998 1 870195 870332 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523367 M 405 0 1 SAMD11 nsv5615592 1 870205 870205 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068248 M 35 1 0 SAMD11 HG00732 nsv6044858 1 870206 870206 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527004 M 405 1 0 SAMD11 nsv3325345 1 870210 870210 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485077,nssv14474166 M 14 2 0 SAMD11 HG00268,HX1 nsv3536703 1 870217 870217 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440473 M 9 1 0 SAMD11 HG00733 nsv3326005 1 870236 870236 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489301,nssv14474812,nssv14488163 M 14 3 0 SAMD11 HG00268,HG02059,HX1 nsv3530912 1 870257 870257 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440474 M 9 1 0 SAMD11 HG00733 nsv3326255 1 870262 870262 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479623,nssv14480980,nssv14480001 M 14 3 0 SAMD11 HG00268,HG02059,HX1 nsv5606440 1 870269 870269 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068249 M 35 1 0 SAMD11 NA19238 nsv2801725 1 870270 870270 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694387 M 2 1 0 SAMD11 nsv3326006 1 870270 870270 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479875,nssv14476355,nssv14485877 M 14 3 0 SAMD11 CHM1,HG00733,HX1 nsv6054251 1 870294 870294 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529780 M 405 1 0 SAMD11 nsv5830817 1 870294 879392 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482484 M 914 0 0 SAMD11 nsv6044499 1 870312 870312 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524588 M 405 1 0 SAMD11 nsv3326007 1 870318 870318 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476310,nssv14486972 M 14 2 0 SAMD11 HX1,NA19434 nsv3326256 1 870337 870337 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487392 M 14 1 0 SAMD11 HG02059 nsv6329054 1 870381 886080 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203186 M 19652 1 0 NOC2L,SAMD11 nsv5830546 1 870544 899386 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482485 M 914 0 0 KLHL17,NOC2L,SAMD11 esv2066434 1 871493 871867 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4643302 M 1 0 1 SAMD11 NA18507 nsv5622332 1 871614 871614 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068251 M 35 1 0 SAMD11 NA19239 nsv5573934 1 871614 871691 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068250 M 35 0 1 SAMD11 HG00096 esv3676844 1 871614 871732 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498363 M 20 0 1 SAMD11 nsv3324888 1 871615 871692 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488597 M 14 0 1 SAMD11 HG02059 nsv4746131 1 871629 871707 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279985 M 25 0 1 SAMD11 nsv5984999 1 871636 871715 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536230 M 405 0 1 SAMD11 nsv4040862 1 871657 871769 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852642 M 10847 0 1 SAMD11 nsv3530092 1 871659 871659 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380373 M 9 1 0 SAMD11 NA19240 nsv3326257 1 871683 871683 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482567 M 14 1 0 SAMD11 NA19240 esv3672038 1 871732 871861 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494038 M 20 0 0 SAMD11 nsv3536595 1 871737 871737 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376282 M 9 1 0 SAMD11 NA19240 nsv3326008 1 871740 871740 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472093 M 14 1 0 SAMD11 NA19240 nsv4039931 1 872771 874223 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853296 M 10847 0 1 SAMD11 esv3584987 1 873391 874042 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839573,essv9839571,essv9839574,essv9839572,essv9839575,essv9839569,essv9839570 M 2504 0 7 SAMD11 HG00543,HG00632,HG01859,HG01866,NA18544,NA18643,NA19074 nsv5882050 1 873417 874048 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17392585 M 914 0 1 SAMD11 esv2663451 1 873417 874049 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5957539,essv5733502,essv5748399,essv6117771 M 1151 0 4 SAMD11 HG00543,NA18544,NA19012,NA19074 nsv5985000 1 873417 874049 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532508 M 405 0 1 SAMD11 nsv4032485 1 873419 874049 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853597 M 10847 0 1 SAMD11 nsv5414372 1 873419 874049 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905870 M 3202 0 1 SAMD11 nsv5880527 1 873604 873660 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17403722 M 914 0 1 SAMD11 nsv6318696 1 873604 873661 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065586 M 19652 0 1 SAMD11 nsv5612396 1 874778 874778 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067151 M 35 1 0 SAMD11 HG02011 nsv3324893 1 874779 874779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472053 M 14 1 0 SAMD11 NA19434 nsv6049811 1 874819 874819 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532190 M 405 1 0 SAMD11 nsv5985052 1 874819 874872 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530534 M 405 0 1 SAMD11 nsv5540848 1 874888 874895 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905922 M 3202 1 0 SAMD11 nsv1013524 1 874890 1097335 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475564 M 11257 1 0 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC254099,NOC2L,PLEKHN1,RNF223,SAMD11 nsv1160644 1 875032 1156043 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026434 M 369 0 1 AGRN,C1orf159,C1orf170,HES4,ISG15,KLHL17,LOC254099,MIR200A,MIR200B,MIR429,NOC2L,PLEKHN1,RNF223,SAMD11,SDF4,TNFRSF18,TNFRSF4,TTLL10 nsv6138479 1 875368 880380 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905933 M 3202 1 0 NOC2L,SAMD11 nsv4036682 1 876254 880033 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963837 M 10847 1 0 NOC2L,SAMD11 nsv1074942 1 877199 878100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763877 M 1 0 1 SAMD11 KWP1 nsv5884486 1 880808 896255 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17393135 M 914 0 1 KLHL17,NOC2L nsv4034043 1 884041 884110 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963845 M 10847 1 0 NOC2L nsv5417411 1 884041 884110 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907001 M 3202 1 0 NOC2L nsv5964974 1 884091 884091 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17400814 M 914 1 0 NOC2L nsv3324895 1 884092 884092 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475558 M 14 1 0 NOC2L HG00268 dgv13e59 1 885189 886187 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3428898,esv3364706 M 185 2 0 NOC2L NA19239,NA19240 nsv5432506 1 885804 885887 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907028 M 3202 0 1 NOC2L nsv4040207 1 885804 885889 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854250 M 10847 0 1 NOC2L nsv4033712 1 887554 889394 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854784 M 10847 0 1 NOC2L nsv5985007 1 892150 892214 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518270 M 405 0 1 NOC2L nsv5873441 1 892166 892230 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17397768 M 914 0 1 NOC2L nsv1074944 1 895399 896600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766571 M 1 0 1 KLHL17 KWP1 nsv4045512 1 895750 902500 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966045 M 10847 1 0 KLHL17,PLEKHN1 nsv482036 1 895967 901095 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558397 M 1 1 0 KLHL17 KB1 nsv5431903 1 897801 898483 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907044 M 3202 0 1 KLHL17 nsv5985009 1 898053 899546 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519759 M 405 0 1 KLHL17 nsv4032982 1 899125 899200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854320 M 10847 0 1 KLHL17 nsv4516744 1 899791 900200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855123 M 10847 0 1 KLHL17 nsv5884147 1 899910 899974 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17409352 M 914 0 1 KLHL17 nsv4449251 1 899922 899992 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15764540 M 1 0 1 KLHL17 nsv3281833 1 899926 899997 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386407 M 9 0 1 KLHL17 NA19240 nsv5565524 1 899955 900143 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067364 M 35 0 1 KLHL17 HG00732 nsv6138277 1 899959 900328 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907124 M 3202 0 1 KLHL17 nsv6041481 1 899973 899973 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536529 M 405 1 0 KLHL17 nsv4736885 1 899975 900051 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260282 M 25 0 1 KLHL17 nsv2801730 1 899976 900051 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13680211 M 2 0 1 KLHL17 nsv3325357 1 899976 900089 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487282,nssv14475243,nssv14473099,nssv14487216,nssv14490527,nssv14477443,nssv14486735,nssv14481186,nssv14488098,nssv14477578,nssv14482773 M 14 0 11 KLHL17 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02818,HX1,NA12878,NA19434 nsv6043626 1 899982 899982 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536795 M 405 1 0 KLHL17 nsv2801731 1 899987 900100 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13689462 M 2 0 1 KLHL17 nsv3282962 1 899997 900071 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14418575,nssv14444891 M 9 0 2 KLHL17 HG00514,HG00733 nsv5985011 1 900003 900129 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525369 M 405 0 1 KLHL17 nsv3935350 1 900004 900078 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180079 M 1 0 1 KLHL17 HG002 nsv5869820 1 900008 900158 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17406602 M 914 0 1 KLHL17 nsv5612756 1 900010 900010 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067365 M 35 1 0 KLHL17 NA18939 esv1003697 1 900011 900085 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3568238 M 3 0 1 KLHL17 HuRef nsv5566630 1 900011 900085 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067366 M 35 0 1 KLHL17 HG00731 nsv3051303 1 900012 900087 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14031641 M 2 0 1 KLHL17 NA12878 nsv6052409 1 900125 900125 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529950 M 405 1 0 KLHL17 nsv159315 1 900149 900224 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177893 M 24 KLHL17 nsv6328072 1 901152 904172 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065343 M 19652 0 1 PLEKHN1 nsv4052006 1 901155 904172 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855139 M 10847 0 1 PLEKHN1 nsv6329743 1 903548 924057 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065364 M 19652 0 1 C1orf170,PLEKHN1 nsv4041434 1 903700 905622 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855221 M 10847 0 1 PLEKHN1 nsv6317638 1 903768 909889 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065367 M 19652 0 1 PLEKHN1 esv3451859 1 904489 905387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692422 M 185 1 0 PLEKHN1 NA19239 nsv5618326 1 905338 905338 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067374 M 35 1 0 PLEKHN1 HG00513 nsv3324902 1 905339 905393 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491648 M 14 0 1 PLEKHN1 HX1 nsv4742675 1 905350 905407 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16294546 M 25 0 1 PLEKHN1 nsv5985137 1 905369 905422 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518922 M 405 0 1 PLEKHN1 nsv3325358 1 905466 905519 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477050 M 14 0 1 PLEKHN1 HX1 nsv3326267 1 909556 909660 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475728 M 14 0 1 PLEKHN1 HG02818 esv1001028 1 911055 913734 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565170 M 3 1 0 C1orf170 HuRef esv2670613 1 911645 915192 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5963116,essv6555599,essv6042185,essv6502636,essv6505246,essv5861730,essv6387100,essv6430927,essv6480133,essv6150879,essv5703730,essv6430407,essv6389326,essv5973675,essv6325639,essv6267868,essv5475375,essv6189900,essv5680397,essv5467419,essv5768893,essv5703177,essv6443495,essv6187040,essv6598157,essv6400366,essv5712285,essv5486053,essv5442020,essv6379774,essv5563021,essv5773855,essv5804523,essv5500942,essv6436893,essv6376621,essv6128474,essv5738531,essv6469348,essv5718556,essv5489577,essv6317482,essv6109108,essv5584422,essv5869388,essv6099762,essv6263431,essv5681970,essv6159415,essv5778222,essv5641324,essv5572747,essv5471639,essv5787081,essv6418259,essv5993200,essv6099101,essv5944648,essv5840689,essv5789556,essv6279545,essv6483725,essv5601933,essv6330051,essv5462014,essv5541532,essv6191793,essv6237379,essv6313757,essv6016618,essv6186898,essv5911759,essv6464009,essv6521104,essv6021580,essv6327051,essv5955626,essv6199706,essv5506395,essv5419278,essv5889195,essv5925242,essv5871535,essv6585690,essv5535610,essv6553074,essv5724880,essv6191383,essv6327372,essv5615197,essv6204209,essv6185252,essv5615808,essv6255541,essv6560863,essv5841281,essv6449523,essv5905036,essv5723792,essv6324543,essv6536645,essv6078680,essv6467493,essv5477110,essv6263463,essv5710426,essv5482863,essv6005729,essv6442790,essv5441563,essv5684098,essv5914563,essv5833597,essv5854734,essv6314870,essv5975232,essv5962986,essv6423047,essv5781640,essv6227956,essv5905964,essv5495292,essv5567082,essv5821063,essv6370075,essv5620498,essv6526343,essv5564928,essv6102802,essv6068647,essv6402564,essv5779263,essv5864207,essv5422914,essv6010738,essv6523376,essv5452156,essv6338447,essv5836989,essv6134181,essv6480331,essv5762189,essv6284507,essv6587307,essv6085046,essv6535946 M 1151 0 146 C1orf170 NA18526,NA18530,NA18532,NA18534,NA18535,NA18536,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18555,NA18557,NA18558,NA18559,NA18560,NA18561,NA18563,NA18565,NA18566,NA18567,NA18570,NA18573,NA18574,NA18576,NA18577,NA18579,NA18592,NA18593,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18606,NA18608,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18623,NA18624,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18940,NA18941,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18950,NA18951,NA18952,NA18953,NA18956,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18980,NA18981,NA18982,NA18983,NA18984,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18999,NA19000,NA19003,NA19004,NA19005,NA19007,NA19009,NA19012,NA19054,NA19055,NA19056,NA19058,NA19059,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088 nsv3220682 1 911667 918763 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259155,nssv14259153,nssv14259154 M 9 3 0 C1orf170 HG00512,HG00513,NA19238 nsv3226653 1 911667 938462 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14273897,nssv14273896 M 9 2 0 C1orf170,HES4 HG00731,HG00733 nsv4038561 1 911800 918000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966054 M 10847 1 0 C1orf170 nsv1073996 1 911899 913600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764727 M 1 0 1 C1orf170 KWP1 dgv7n106 1 911900 913700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1142737,nsv1121738 M 2 0 2 C1orf170 KWS1,KWS2 nsv4444176 1 912066 912066 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761588 M 1 1 0 C1orf170 nsv3326268 1 912089 912089 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473848 M 14 1 0 C1orf170 CHM13 nsv3325359 1 912089 912248 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474541,nssv14487402,nssv14475627,nssv14489011 M 14 0 4 C1orf170 HG02818,HX1,NA12878,NA19240 nsv4750201 1 912093 912206 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16283463 M 25 0 1 C1orf170 nsv6138839 1 912109 913112 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908668 M 3202 0 1 C1orf170 nsv6048498 1 912112 912112 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527183 M 405 1 0 C1orf170 nsv5566527 1 912117 912434 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068261 M 35 0 1 C1orf170 NA19239 nsv5985057 1 912119 912407 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529559 M 405 0 1 C1orf170 nsv6045076 1 912123 912123 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533191 M 405 1 0 C1orf170 nsv5985239 1 912135 912198 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526595 M 405 0 1 C1orf170 nsv5611387 1 912223 912223 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068262 M 35 1 0 C1orf170 HG00171 nsv3326269 1 912255 912255 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473326,nssv14480087,nssv14484288 M 14 3 0 C1orf170 CHM13,HG00733,NA19434 esv1165796 1 912278 913308 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4038215 M 2 0 1 C1orf170 HuRef nsv5617291 1 912291 912291 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068263 M 35 1 0 C1orf170 HG00732 nsv3326270 1 912320 912320 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477403 M 14 1 0 C1orf170 CHM13 nsv3536783 1 912323 912323 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440475 M 9 1 0 C1orf170 HG00733 nsv6041984 1 912376 912376 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525025 M 405 1 0 C1orf170 nsv3324904 1 912414 912476 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472764 M 14 0 1 C1orf170 HG02818 nsv3326019 1 912432 912432 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483517 M 14 1 0 C1orf170 CHM13 nsv5612606 1 912445 912445 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068264 M 35 1 0 C1orf170 HG00731 nsv3326271 1 912464 912464 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488780 M 14 1 0 C1orf170 CHM13 nsv2802451 1 912465 912465 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691027 M 2 1 0 C1orf170 nsv3171791 1 912469 912535 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391187 M 9 0 0 C1orf170 NA19240 nsv3326020 1 912499 912499 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490438 M 14 1 0 C1orf170 HG02106 nsv2802359 1 912527 912527 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692213 M 2 1 0 C1orf170 nsv2802360 1 912559 912559 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680491 M 2 1 0 C1orf170 nsv3324905 1 912559 912559 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491075 M 14 1 0 C1orf170 CHM13 nsv2801734 1 912591 912591 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682692,nssv13691204 M 2 2 0 C1orf170 nsv3326021 1 912591 912591 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477143,nssv14473111 M 14 2 0 C1orf170 HG00514,HG02106 nsv3189086 1 912598 912658 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375131 M 9 0 0 C1orf170 NA19240 nsv5576712 1 912604 912695 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068265 M 35 0 1 C1orf170 NA19239 nsv5985240 1 912606 912722 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536306 M 405 0 1 C1orf170 nsv3326022 1 912623 912623 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487845 M 14 1 0 C1orf170 CHM13 nsv3326023 1 912625 912686 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476935,nssv14477499,nssv14483668,nssv14476502 M 14 0 4 C1orf170 HG02059,HG02818,NA12878,NA19240 nsv5617296 1 912656 912656 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068266 M 35 1 0 C1orf170 HG00731 nsv3531571 1 912669 912669 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440476 M 9 1 0 C1orf170 HG00733 nsv5622496 1 912696 912696 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068267 M 35 1 0 C1orf170 NA20847 nsv3282331 1 912700 912766 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381383 M 9 0 1 C1orf170 NA19240 nsv3324906 1 912715 912715 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474383,nssv14474620 M 14 2 0 C1orf170 CHM1,CHM13 nsv2802361 1 912722 912722 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692763 M 2 1 0 C1orf170 nsv5568780 1 912722 913219 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068268 M 35 0 1 C1orf170 NA19238 nsv5985469 1 912725 913147 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518374 M 405 0 1 C1orf170 nsv6046069 1 912734 912734 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532051 M 405 1 0 C1orf170 nsv2802362 1 912747 912747 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693045 M 2 1 0 C1orf170 nsv3326272 1 912754 912754 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473891,nssv14480433,nssv14491763,nssv14484111 M 14 4 0 C1orf170 CHM1,CHM13,HG00268,HG00514 nsv2801735 1 912779 912779 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676791 M 2 1 0 C1orf170 nsv3325360 1 912779 912779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485619,nssv14491223,nssv14490898,nssv14473625 M 14 4 0 C1orf170 CHM1,HG00268,HG00514,HG02106 nsv2802363 1 912811 912811 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691905 M 2 1 0 C1orf170 nsv3325361 1 912818 912818 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489027,nssv14482931,nssv14486250,nssv14486818 M 14 4 0 C1orf170 CHM1,HG00268,HG00514,HG02106 nsv6049182 1 912832 912832 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536000 M 405 1 0 C1orf170 nsv2801736 1 912875 912875 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686180 M 2 1 0 C1orf170 nsv3325362 1 912875 912875 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485881,nssv14476731,nssv14488995 M 14 3 0 C1orf170 CHM1,HG00268,HG00514 nsv2802452 1 912907 912907 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691107 M 2 1 0 C1orf170 nsv3326273 1 912907 912907 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483938,nssv14473773,nssv14484230 M 14 3 0 C1orf170 CHM13,HG00268,HG00514 nsv6046279 1 912939 912939 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518117 M 405 1 0 C1orf170 nsv6058986 1 912947 912947 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523503 M 405 1 0 C1orf170 nsv2802453 1 912948 912948 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691313 M 2 1 0 C1orf170 nsv5620941 1 912952 912952 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068269 M 35 1 0 C1orf170 HG00513 nsv2802454 1 912971 912971 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690652 M 2 1 0 C1orf170 nsv3531118 1 912974 912974 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413431 M 9 1 0 C1orf170 HG00514 nsv5577191 1 912978 913219 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068270 M 35 0 1 C1orf170 NA19239 nsv6048313 1 912990 912990 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521387 M 405 1 0 C1orf170 nsv3325363 1 913003 913003 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478772,nssv14490702,nssv14475111 M 14 3 0 C1orf170 CHM1,HG02818,NA19240 nsv2802455 1 913010 913010 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685429 M 2 1 0 C1orf170 nsv2802364 1 913035 913035 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694491 M 2 1 0 C1orf170 nsv3324907 1 913098 913098 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474507,nssv14481462 M 14 2 0 C1orf170 CHM1,HG00268 nsv3325364 1 913107 913107 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476010,nssv14475308 M 14 2 0 C1orf170 HG02106,NA19240 nsv4036810 1 913112 913322 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966079 M 10847 1 0 C1orf170 nsv3324908 1 913135 913191 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484417 M 14 0 1 C1orf170 HX1 nsv6056309 1 913137 913137 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537457 M 405 1 0 C1orf170 nsv5985241 1 913156 913212 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522919 M 405 0 1 C1orf170 nsv3187767 1 913156 913213 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383868 M 9 0 0 C1orf170 NA19240 nsv3324909 1 913190 913190 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478900 M 14 1 0 C1orf170 HG01352 nsv3929387 1 913225 913225 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190695 M 1 1 0 C1orf170 HG002 nsv5617152 1 913225 913225 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068271 M 35 1 0 C1orf170 HG00731 nsv2801737 1 913248 913248 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682015,nssv13686404 M 2 2 0 C1orf170 nsv3326276 1 913258 913378 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491355,nssv14476447 M 14 0 2 C1orf170 HG02059,NA12878 nsv6047663 1 913271 913271 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522160 M 405 1 0 C1orf170 nsv3326277 1 913286 913286 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478617,nssv14489130 M 14 2 0 C1orf170 HG00514,HG01352 nsv6057092 1 913303 913303 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533943 M 405 1 0 C1orf170 nsv2801738 1 913304 913304 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680196 M 2 1 0 C1orf170 nsv3325365 1 913319 913380 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490847,nssv14479180 M 14 0 2 C1orf170 HG02818,NA12878 nsv4735599 1 913319 913380 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16294682 M 25 0 1 C1orf170 nsv5985060 1 913319 913390 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532236 M 405 0 1 C1orf170 nsv5571625 1 913323 913381 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068272 M 35 0 1 C1orf170 NA19239 nsv3534243 1 913369 913369 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413432 M 9 1 0 C1orf170 HG00514 nsv2802365 1 913374 913374 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684505,nssv13685725 M 2 2 0 C1orf170 nsv3541313 1 913382 913382 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440477 M 9 1 0 C1orf170 HG00733 nsv5617824 1 913382 913382 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068273 M 35 1 0 C1orf170 HG00731 nsv4032969 1 913951 984184 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966089 M 10847 1 0 AGRN,C1orf170,HES4,ISG15 nsv4537682 1 914210 914211 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024295 M 10847 1 0 C1orf170 nsv4039163 1 915224 915360 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855526 M 10847 0 1 C1orf170 nsv6317460 1 915970 1009725 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202129 M 19652 1 0 AGRN,C1orf170,HES4,ISG15,RNF223 nsv4038463 1 916956 917023 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855607 M 10847 0 1 C1orf170 nsv4568713 1 918618 918619 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026079 M 10847 1 0 "" nsv6541417 1 918993 1015042 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252800 M 19652 0 0 AGRN,HES4,ISG15,RNF223 nsv5952400 1 919991 919991 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17400020 M 914 1 0 "" nsv6044684 1 919991 919991 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517992 M 405 1 0 "" nsv5534893 1 919992 919998 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907644 M 3202 1 0 "" nsv4533748 1 919998 919999 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024988 M 10847 1 0 "" nsv6333859 1 920364 925524 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065897 M 19652 0 1 "" nsv6333643 1 920408 921521 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065898 M 19652 0 1 "" nsv4046486 1 922000 927000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856046 M 10847 0 1 "" nsv6334622 1 922085 927188 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065917 M 19652 0 1 "" nsv6053288 1 924241 924241 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535874 M 405 1 0 "" nsv5871087 1 924262 924535 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17406306 M 914 0 1 "" nsv5985245 1 928440 928520 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525244 M 405 0 1 "" esv997839 1 928681 930764 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565560 M 3 0 1 "" HuRef nsv4444177 1 931634 931634 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761809 M 1 1 0 "" nsv5609217 1 931662 931662 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067422 M 35 1 0 "" NA19238 nsv3064169 1 931663 931663 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017103 M 2 1 0 "" NA12878 nsv159328 1 931665 931730 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177906 M 24 "" nsv6056845 1 931718 931718 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536718 M 405 1 0 "" nsv5623104 1 931728 931728 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067423 M 35 1 0 "" HG00733 nsv3326286 1 931729 931729 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485900 M 14 1 0 "" HG01352 nsv3952242 1 931729 931729 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191572 M 1 1 0 "" HG002 nsv2802457 1 931731 931731 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13696823 M 2 1 0 "" nsv3326027 1 931731 931731 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484191,nssv14485120,nssv14491085,nssv14481337,nssv14484335,nssv14480772,nssv14473724,nssv14488977,nssv14490549 M 14 9 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,NA12878,NA19240 nsv3190225 1 931757 931823 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413433,nssv14440479 M 9 0 0 "" HG00514,HG00733 nsv5610718 1 931772 931772 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067424 M 35 1 0 "" HG00731 nsv4754741 1 931777 931777 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16279806 M 25 1 0 "" nsv4738635 1 931777 931947 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16293022 M 25 1 0 "" esv1776849 1 931780 931780 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3713900 M 2 1 0 "" HuRef nsv3538821 1 931783 931783 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383956 M 9 1 0 "" NA19240 nsv5985247 1 931786 931856 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524859 M 405 0 1 "" nsv5985069 1 931828 931892 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535135 M 405 0 1 "" nsv3052222 1 931880 931880 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031856 M 2 1 0 "" NA12878 nsv3534276 1 931911 931911 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440480 M 9 1 0 "" HG00733 nsv3326028 1 931936 931936 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472656,nssv14476203 M 14 2 0 "" HG00268,NA19434 nsv5985145 1 931957 932137 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530091 M 405 0 1 "" nsv159419 1 931981 932111 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177997 M 24 "" nsv5617819 1 932036 932036 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067425 M 35 1 0 "" NA19238 nsv3184850 1 932036 932102 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440481 M 9 0 0 "" HG00733 nsv2802458 1 932072 932072 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681150 M 2 1 0 "" nsv3326029 1 932072 932072 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474472,nssv14487176,nssv14474471,nssv14491062,nssv14482221 M 14 5 0 "" HG00268,HG00514,HG01352,HX1,NA19434 nsv3536773 1 932100 932100 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440482 M 9 1 0 "" HG00733 nsv5985070 1 932107 932183 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531883 M 405 0 1 "" nsv2802632 1 932109 932109 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680313 M 2 1 0 "" nsv3326287 1 932109 932109 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491793,nssv14476896,nssv14478219,nssv14484436 M 14 4 0 "" HG00268,HG00514,HX1,NA19434 nsv5610823 1 932123 932123 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067426 M 35 1 0 "" NA19650 nsv3326288 1 932137 932137 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479718 M 14 1 0 "" HG00733 nsv3537783 1 932161 932161 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413434,nssv14440483 M 9 2 0 "" HG00514,HG00733 nsv3324919 1 932185 932185 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484450 M 14 1 0 "" HG01352 nsv3325371 1 932207 932207 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491418 M 14 1 0 "" HG01352 nsv5870316 1 932985 933188 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17396108 M 914 0 1 "" nsv827252 1 934105 936507 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436318 M 31 1 0 HES4 NA18542 nsv4759396 1 934122 934122 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16286688 M 25 1 0 "" nsv5613016 1 934137 934137 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067434 M 35 1 0 "" HG00731 nsv3540782 1 934142 934142 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413435,nssv14440484 M 9 2 0 "" HG00514,HG00733 nsv6060097 1 934142 934142 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519589 M 405 1 0 "" nsv2802370 1 934143 934143 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695704 M 2 1 0 "" nsv3326291 1 934143 934143 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477972,nssv14477794,nssv14481688,nssv14490612 M 14 4 0 "" CHM13,HG00733,HG02059,HG02106 nsv3561737 1 934143 934143 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375782,nssv14377728,nssv14384318 M 9 3 0 "" HG00512,HG00513,HG00514 nsv5953294 1 934144 934144 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17404589 M 914 1 0 "" nsv4444178 1 934147 934147 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15758711 M 1 1 0 "" nsv5552714 1 934165 934194 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907646 M 3202 1 0 "" nsv4034076 1 935849 969448 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966107 M 10847 1 0 AGRN,ISG15 esv3688838 1 937795 937795 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473031 M 20 1 0 "" nsv5887277 1 939918 939967 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365327 M 914 0 1 "" nsv945741 1 942574 1027999 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749364,nssv1749409,nssv1749373,nssv1749417,nssv1749374,nssv1749422,nssv1749366,nssv1749441,nssv1749365,nssv1749468,nssv1749457,nssv1749426,nssv1749363,nssv1749442,nssv1749379,nssv1749413,nssv1749377,nssv1749465,nssv1749451,nssv1749437,nssv1749380,nssv1749433,nssv1749456,nssv1749434,nssv1749370,nssv1749429,nssv1749402,nssv1749432,nssv1749397,nssv1749459,nssv1749454,nssv1749444,nssv1749387,nssv1749460,nssv1749448,nssv1749436,nssv1749371,nssv1749421,nssv1749453,nssv1749408,nssv1749375,nssv1749410,nssv1749447,nssv1749466,nssv1749400,nssv1749424,nssv1749385,nssv1749431,nssv1749388,nssv1749412,nssv1749401,nssv1749425,nssv1749399,nssv1749411,nssv1749396,nssv1749404,nssv1749378,nssv1749415,nssv1749367,nssv1749406,nssv1749389,nssv1749407,nssv1749458,nssv1749420,nssv1749390,nssv1749463,nssv1749369,nssv1749443,nssv1749393,nssv1749418,nssv1749384,nssv1749430,nssv1749376,nssv1749439,nssv1749452,nssv1749469,nssv1749391,nssv1749428,nssv1749395,nssv1749464,nssv1749403,nssv1749467,nssv1749382,nssv1749446,nssv1749398,nssv1749462,nssv1749392,nssv1749440,nssv1749381,nssv1749419,nssv1749455,nssv1749445,nssv1749386,nssv1749423,nssv1749368,nssv1749435,nssv1749414 M 97 10 0 AGRN,C1orf159,ISG15,RNF223 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6324982 1 943389 952432 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200294 M 19652 1 0 ISG15 nsv828363 1 944680 948776 CNV gain+loss Park_et_al_2010 20364138 Oligo aCGH nssv1436320,nssv1434856 M 31 1 1 "" NA18542,NA18942 nsv509146 1 945890 1046568 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619759,nssv621080 M 4 2 0 AGRN,C1orf159,ISG15,RNF223 NA10860,NA15510 nsv4051037 1 946425 947714 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854095 M 10847 0 1 "" esv3584988 1 947113 948003 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839579,essv9839578,essv9839576,essv9839577 M 2504 0 4 "" HG02546,NA19307,NA19338,NA19401 nsv4043441 1 947121 947905 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856163 M 10847 0 1 "" nsv5876015 1 947121 947998 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363014 M 914 0 1 "" esv2665646 1 947121 948001 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5634163,essv6082937,essv6062495 M 1151 0 3 "" NA19338,NA19359,NA19401 nsv5428923 1 947121 948001 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907647 M 3202 0 1 "" nsv6330675 1 947121 948001 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050255 M 19652 0 1 "" dgv17n54 1 949608 964438 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544935,nsv544936 M 17421 0 2 AGRN,ISG15 nsv5867616 1 950354 950482 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351511 M 914 0 1 "" nsv5581636 1 952312 952440 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060085 M 35 0 1 "" HG03683 nsv5884600 1 952312 952440 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350047 M 914 0 1 "" dgv8n106 1 952312 952450 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1130265,nsv1129865 M 2 0 1 "" KWS2 nsv5980543 1 952313 952443 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527371 M 405 0 1 "" nsv4035122 1 952328 952441 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854556 M 10847 0 1 "" nsv5566529 1 952701 952800 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060086 M 35 0 1 "" HG01114 nsv1067927 1 953124 953320 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762276 M 1 0 1 "" KWP1 nsv5877356 1 953161 953318 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352880 M 914 0 1 "" nsv1137715 1 953161 953319 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990216,nssv3982097 M 2 0 2 "" KWS1,KWS2 nsv3199562 1 953161 953319 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14285796,nssv14285790,nssv14285794,nssv14285797,nssv14285791,nssv14285792,nssv14285789,nssv14285795,nssv14285793 M 9 0 9 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5980472 1 953171 953326 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532738 M 405 0 1 "" nsv1142738 1 954800 956400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994237 M 2 0 1 AGRN KWS1 nsv3181896 1 962850 967097 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14446296,nssv14446297 M 9 0 0 AGRN HG00733 nsv1160772 1 962965 1268847 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026545 M 369 1 0 ACAP3,AGRN,B3GALT6,C1orf159,CPSF3L,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,PUSL1,RNF223,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 esv29017 1 963659 964480 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19930 M 40 0 6 AGRN NA11931,NA12044,NA12414,NA12749,NA12776,NA19240 nsv4433201 1 963717 965523 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15753917,nssv15747460 M 15 0 2 AGRN NB07,NB08 esv987912 1 963820 964480 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586137 M 3 0 1 AGRN HuRef esv3584989 1 963826 974172 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9839595,essv9839610,essv9839597,essv9839598,essv9839596,essv9839611,essv9839590,essv9839587,essv9839607,essv9839594,essv9839583,essv9839603,essv9839592,essv9839585,essv9839601,essv9839591,essv9839586,essv9839613,essv9839589,essv9839584,essv9839604,essv9839593,essv9839582,essv9839605,essv9839588,essv9839612,essv9839616,essv9839599,essv9839618,essv9839608,essv9839621,essv9839602,essv9839617,essv9839600,essv9839614,essv9839609,essv9839619,essv9839606,essv9839620,essv9839581,essv9839615,essv9839580 M 2504 42 0 AGRN HG00130,HG00350,HG01277,HG01344,HG01625,HG01626,HG01628,HG01630,HG01985,HG02013,HG02089,HG02134,HG02140,HG02277,HG02285,HG02484,HG02508,HG03224,NA12815,NA12872,NA12874,NA18525,NA18639,NA18640,NA18645,NA18747,NA18749,NA18939,NA18946,NA18957,NA18993,NA19031,NA19149,NA19189,NA19431,NA19438,NA19700,NA19734,NA19922,NA20757,NA21109,NA21113 esv4415 1 963838 964567 CNV loss Wang_et_al_2008 18987735 Sequencing essv26856 M 1 0 1 AGRN YH nsv3319236 1 963850 964459 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482028,nssv14485948,nssv14482701 M 14 0 3 AGRN HG00733,HX1,NA19240 nsv5573998 1 963851 964460 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059642 M 35 0 1 AGRN HG00731 nsv5876673 1 963851 964460 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362946 M 914 0 1 AGRN dgv7n152 1 963851 964461 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280950,nsv3524992 M 9 0 3 AGRN HG00731,HG00732,NA19240 nsv4516696 1 963856 964461 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852976 M 10847 0 1 AGRN nsv544937 1 963864 967588 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708455 M 17421 0 1 AGRN dgv18n54 1 963864 973767 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544939,nsv544938,nsv544942,nsv544943 M 17421 0 15 AGRN dgv19n54 1 963864 980460 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544940,nsv544944 M 17421 0 2 AGRN nsv5582927 1 963871 963931 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059643 M 35 0 1 AGRN HG03065 esv2674475 1 963871 964481 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6584245,essv5770283,essv6032236,essv5765836,essv6054853,essv5819196,essv6152898,essv6071729,essv6177663,essv6460718,essv6535245,essv5460067,essv5466613,essv5700942,essv6051709,essv5586667,essv6197367,essv5484641,essv5964725,essv5512746,essv5613816,essv5821062,essv6175781,essv6183968,essv6018657,essv6239917,essv5515175,essv6467904,essv5987883,essv5525377,essv5771704,essv6048979,essv6510454,essv6067524,essv6425065,essv6352021,essv5766055,essv6474371,essv5929634,essv6150676,essv5597778,essv6283772,essv6450578,essv5614201,essv6461709,essv6434262,essv6158394,essv6069837,essv5629256,essv5942233,essv6462535,essv5533171,essv6192230,essv6445789,essv6325568,essv5759307,essv6229256,essv6336428,essv5977948,essv6596508,essv6427750,essv6362474,essv5552270,essv5912544,essv5578565,essv6368059,essv6386003,essv5615962,essv6559100,essv6418029,essv6412469,essv5456064,essv5655999,essv6453590,essv6168477,essv5579307,essv5803925,essv5657075,essv6573154,essv5601728,essv6461713,essv5987847,essv6482402,essv5717079,essv5758458,essv6070502,essv6211448,essv6197707,essv6204902,essv6347242,essv5870935,essv5462103,essv6085598,essv5666985,essv5915311,essv5885429,essv5809115,essv5958628,essv6029294,essv6154985,essv5714107,essv5438152,essv6212079,essv6512480,essv6463649,essv6262010,essv6510320,essv5994815,essv6332345,essv5829646,essv5700798,essv6337876,essv5694805,essv6273537,essv5929362,essv6016807,essv5491037,essv6339703,essv5782186,essv6105732,essv6504358,essv5992380,essv5620395,essv6338714,essv6572780,essv6123918,essv5840741,essv6471857,essv6371427,essv5543982,essv5853566,essv6261205,essv6286261,essv6031648,essv5600714,essv6412237,essv5448884,essv6432453,essv6027655,essv6215092,essv6275093,essv6293236,essv5789270,essv5534660,essv6001928,essv5509723,essv6493518,essv6054536,essv5607185,essv5722499,essv6261633,essv5670392,essv6510298,essv5993590,essv5741053,essv5729992,essv5795116,essv6241223,essv6147838,essv6030509,essv6479044,essv5397305,essv5734294,essv5515257,essv5607932,essv6424714,essv6178153,essv5885638,essv5596252,essv6401814,essv5824591,essv5819882,essv5750218,essv5589591,essv5443079,essv6221043,essv6269485,essv6379238,essv5441289,essv6498080,essv6019519,essv5574524,essv6452440,essv6000145,essv5680961,essv6168761,essv5916857,essv5775808,essv6320707,essv5519265,essv5763678,essv6349109,essv6243124,essv6022508,essv5980381,essv5978321,essv6117995,essv5674953,essv5672078,essv6043080,essv5493240,essv6198018,essv5870748,essv6579614,essv6096713,essv6301862,essv5464919,essv5718506,essv5544079,essv5793300 M 1151 0 210 AGRN HG00108,HG00116,HG00123,HG00124,HG00125,HG00136,HG00137,HG00138,HG00140,HG00146,HG00151,HG00159,HG00160,HG00173,HG00180,HG00185,HG00187,HG00231,HG00237,HG00242,HG00245,HG00246,HG00247,HG00250,HG00251,HG00252,HG00253,HG00268,HG00273,HG00274,HG00275,HG00276,HG00277,HG00280,HG00281,HG00306,HG00310,HG00311,HG00319,HG00323,HG00325,HG00326,HG00327,HG00328,HG00342,HG00345,HG00353,HG00357,HG00361,HG00366,HG00367,HG00375,HG00419,HG00443,HG00449,HG00463,HG00500,HG00534,HG00537,HG00554,HG00565,HG00581,HG00590,HG00607,HG00608,HG00614,HG00640,HG00641,HG00654,HG00693,HG00699,HG00702,HG00708,HG00731,HG00732,HG00734,HG00736,HG00740,HG01047,HG01048,HG01052,HG01061,HG01070,HG01082,HG01124,HG01133,HG01134,HG01148,HG01197,HG01250,HG01334,HG01350,HG01353,HG01354,HG01359,HG01365,HG01366,HG01374,HG01375,HG01389,HG01390,HG01437,HG01456,HG01461,HG01489,HG01518,HG01522,HG01551,NA06984,NA06986,NA06989,NA11830,NA11919,NA11994,NA11995,NA12283,NA12342,NA12348,NA12546,NA12718,NA12763,NA12777,NA12842,NA18530,NA18536,NA18542,NA18545,NA18549,NA18557,NA18565,NA18566,NA18570,NA18571,NA18573,NA18576,NA18577,NA18582,NA18592,NA18610,NA18611,NA18613,NA18616,NA18619,NA18632,NA18856,NA18861,NA18912,NA18947,NA18950,NA18980,NA18987,NA18989,NA18999,NA19003,NA19055,NA19057,NA19075,NA19076,NA19077,NA19078,NA19082,NA19084,NA19197,NA19316,NA19327,NA19347,NA19355,NA19371,NA19375,NA19439,NA19445,NA19451,NA19453,NA19462,NA19463,NA19471,NA19473,NA19648,NA19676,NA19703,NA19707,NA19722,NA19723,NA19780,NA19834,NA19904,NA19982,NA20276,NA20291,NA20346,NA20508,NA20510,NA20513,NA20516,NA20517,NA20525,NA20530,NA20531,NA20532,NA20539,NA20582,NA20585,NA20752,NA20756,NA20766,NA20778,NA20783,NA20796,NA20799,NA20808 nsv6138585 1 963925 964474 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889905 M 3202 0 1 AGRN nsv4433202 1 963945 964745 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15753301 M 15 0 1 AGRN NB11 nsv5623412 1 963949 963949 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059654 M 35 1 0 AGRN HG02818 nsv4733863 1 963965 964392 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16264055 M 25 0 1 AGRN dgv20n54 1 963966 964438 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544946,nsv544945,nsv544941 M 17421 0 31 AGRN nsv5580383 1 964010 964192 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059655 M 35 0 1 AGRN HG03486 esv2853792 1 964014 964502 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7123359 M 1 0 1 AGRN HuRef nsv5980478 1 964036 964445 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533834 M 405 0 1 AGRN nsv5980479 1 964061 964124 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529113 M 405 0 1 AGRN nsv5980621 1 964097 964212 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519686 M 405 0 1 AGRN nsv5980700 1 964267 964328 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519446 M 405 0 1 AGRN nsv5606663 1 964333 964333 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059656 M 35 1 0 AGRN HG02587 nsv4043403 1 964500 978000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966124 M 10847 1 0 AGRN esv6517 1 964760 965579 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28958 M 1 0 0 AGRN esv3649228 1 964794 964794 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473508 M 20 1 0 AGRN esv3561092 1 964980 965379 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759839 M 767 0 1 AGRN nsv5432093 1 965008 965348 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889944 M 3202 0 1 AGRN nsv5980701 1 965009 965363 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523016 M 405 0 1 AGRN nsv6058700 1 965017 965017 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519538 M 405 1 0 AGRN nsv5953921 1 965019 965019 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352575 M 914 1 0 AGRN nsv1137176 1 965047 965362 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975866 M 2 0 1 AGRN KWS1 nsv5617908 1 965051 965051 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059660 M 35 1 0 AGRN HG00731 nsv6053298 1 965051 965051 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526338 M 405 1 0 AGRN nsv5571293 1 965051 965206 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059659 M 35 0 1 AGRN NA19239 nsv5980480 1 965051 965207 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524312 M 405 0 1 AGRN nsv3319672 1 965052 965207 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481299 M 14 0 1 AGRN HX1 nsv3319027 1 965055 965055 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484104,nssv14486046 M 14 2 0 AGRN HG00733,HX1 nsv1125446 1 965057 965567 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983619 M 2 1 0 AGRN KWS2 nsv3280591 1 965083 965391 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386250 M 9 0 1 AGRN NA19240 dgv14e59 1 965089 966987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3441341,esv3385140 M 185 2 0 AGRN NA19239,NA19240 nsv3319455 1 965231 965231 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491293,nssv14481632,nssv14484022 M 14 3 0 AGRN HG00733,HG04217,HX1 nsv5980550 1 965283 965403 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528985 M 405 0 1 AGRN nsv3319028 1 965323 965323 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490462,nssv14490582 M 14 2 0 AGRN HG00733,HX1 nsv1073573 1 965347 965510 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766181 M 1 0 1 AGRN KWP1 nsv3319456 1 965367 965367 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491598 M 14 1 0 AGRN HG00733 nsv6058496 1 965393 965393 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530946 M 405 1 0 AGRN nsv3319029 1 965401 965401 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472833 M 14 1 0 AGRN HX1 nsv6040899 1 965487 965487 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533423 M 405 1 0 AGRN nsv5621646 1 965529 965529 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059661 M 35 1 0 AGRN HG00731 nsv5616987 1 965532 965532 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059662 M 35 1 0 AGRN NA19239 nsv5878058 1 965534 965717 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368318 M 914 0 1 AGRN nsv5622175 1 965668 965668 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059663 M 35 1 0 AGRN HG03732 nsv5871775 1 965673 966260 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17355617 M 914 1 0 AGRN nsv3533364 1 965763 965763 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374344 M 9 1 0 AGRN NA19240 nsv4433203 1 965808 966154 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15747412 M 15 0 1 AGRN NB09 nsv5616495 1 965840 965840 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059665 M 35 1 0 AGRN HG00731 nsv6054137 1 965914 965914 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533126 M 405 1 0 AGRN nsv5980622 1 965936 966087 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531416 M 405 0 1 AGRN nsv6048124 1 965975 965975 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518828 M 405 1 0 AGRN esv1064309 1 965995 965995 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3670093 M 2 1 0 AGRN HuRef esv3678359 1 966027 966394 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499727 M 20 0 1 AGRN nsv3530862 1 966079 966079 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387299 M 9 1 0 AGRN NA19240 nsv6046732 1 966090 966090 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536973 M 405 1 0 AGRN nsv6048054 1 966199 966199 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520762 M 405 1 0 AGRN nsv6059651 1 966299 966299 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528847 M 405 1 0 AGRN nsv4050518 1 968626 969619 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855648 M 10847 0 1 AGRN nsv1073577 1 968899 969400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767229 M 1 0 1 AGRN KWP1 nsv1143425 1 976300 976700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980622 M 2 0 1 AGRN KWS1 nsv5980627 1 976417 976504 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526321 M 405 0 1 AGRN nsv4744769 1 977081 977134 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16266812 M 25 0 1 AGRN nsv5980486 1 977095 977148 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520233 M 405 0 1 AGRN nsv4042200 1 982598 1083046 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966150 M 10847 1 0 AGRN,C1orf159,LOC254099,RNF223 nsv4041858 1 984420 984513 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854657 M 10847 0 1 AGRN nsv2800323 1 984431 984431 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685703 M 2 1 0 AGRN nsv3319477 1 984431 984431 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488986 M 14 1 0 AGRN CHM1 nsv2800567 1 984466 984466 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690112 M 2 1 0 AGRN nsv3319048 1 984466 984466 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474786,nssv14475321 M 14 2 0 AGRN CHM1,HG01352 nsv5610422 1 984504 984504 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059831 M 35 1 0 AGRN HG00732 nsv5980488 1 987877 987946 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527863 M 405 0 1 AGRN nsv1074422 1 988571 988623 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767579 M 1 0 1 AGRN KWP1 nsv5572065 1 988572 988622 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059844 M 35 0 1 AGRN HG00732 nsv5875012 1 988572 988622 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366468 M 914 0 1 AGRN esv3562203 1 988572 988623 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9760950 M 767 0 1 AGRN nsv3200054 1 988572 988623 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390547,nssv14292772,nssv14292770,nssv14292771 M 9 0 3 AGRN HG00732,NA19238,NA19240 nsv3319256 1 988573 988623 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486932 M 14 0 1 AGRN HG01352 nsv5980564 1 988579 988632 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525911 M 405 0 1 AGRN nsv829425 1 991422 993857 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434857 M 31 0 1 AGRN NA18942 nsv1133120 1 991818 991894 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987937 M 2 1 0 "" KWS1 nsv5880982 1 991894 992013 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17361714 M 914 1 0 "" nsv4047109 1 995604 995737 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966160 M 10847 1 0 "" nsv5423978 1 995604 995737 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890000 M 3202 1 0 "" dgv8n152 1 996028 1040293 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3218873,nsv3213494 M 9 5 0 C1orf159,RNF223 HG00731,HG00732,HG00733,NA19238,NA19240 nsv4563326 1 996336 996337 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025019 M 10847 1 0 "" nsv1074423 1 1000099 1000900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771025 M 1 0 1 "" KWP1 nsv4047279 1 1000213 1000958 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855270 M 10847 0 1 "" nsv3319059 1 1000229 1000288 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476063 M 14 0 1 "" NA19434 nsv4736283 1 1000247 1000308 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16288751 M 25 0 1 "" nsv5565760 1 1000256 1000642 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059880 M 35 0 1 "" HG03125 nsv3319060 1 1000376 1000437 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476723,nssv14482464 M 14 0 2 "" HG01352,HG04217 nsv5570263 1 1000390 1000479 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059881 M 35 0 1 "" NA19239 nsv5607367 1 1000400 1000400 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059882 M 35 1 0 "" NA24385 nsv5980641 1 1000406 1000475 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532459 M 405 0 1 "" nsv5980573 1 1000548 1000604 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532990 M 405 0 1 "" nsv6057812 1 1000560 1000560 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533151 M 405 1 0 "" nsv5606699 1 1000589 1000589 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059883 M 35 1 0 "" HG00732 nsv4444179 1 1000693 1000693 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15767805 M 1 1 0 "" nsv6330866 1 1002381 1002980 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050777 M 19652 0 1 "" nsv1003578 1 1003629 1218086 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466373 M 11257 1 0 B3GALT6,C1orf159,FAM132A,LOC254099,MIR200A,MIR200B,MIR429,RNF223,SCNN1D,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 nsv5432085 1 1004112 1004214 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890001 M 3202 1 0 "" nsv5874255 1 1004126 1004203 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17350199 M 914 1 0 "" esv3650502 1 1004127 1004127 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16474655 M 20 1 0 "" nsv4755948 1 1004131 1004131 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16262878 M 25 1 0 "" nsv6041104 1 1004158 1004158 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526565 M 405 1 0 "" esv3651094 1 1004204 1004204 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475189 M 20 1 0 "" nsv3541790 1 1004204 1004204 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413436,nssv14440485,nssv14379138 M 9 3 0 "" HG00514,HG00733,NA19240 nsv4444180 1 1004204 1004204 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15763642 M 1 1 0 "" nsv5611100 1 1004204 1004204 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059893 M 35 1 0 "" HG00731 nsv2800417 1 1004205 1004205 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13710655 M 2 1 0 "" nsv3319487 1 1004205 1004205 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491106,nssv14479666,nssv14476278,nssv14491806,nssv14487989,nssv14488598,nssv14473974,nssv14490259,nssv14478456,nssv14491114,nssv14474059,nssv14472139 M 14 12 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19434 nsv544947 1 1005806 1242084 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708504 M 17421 0 1 ACAP3,B3GALT6,C1orf159,FAM132A,LOC254099,MIR200A,MIR200B,MIR429,MIR6726,RNF223,SCNN1D,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 nsv470680 1 1005806 1314015 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547648,nssv547650,nssv547649 M 443 0 3 ACAP3,AURKAIP1,B3GALT6,C1orf159,CPSF3L,DVL1,FAM132A,GLTPD1,LOC254099,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,MIR6808,MXRA8,PUSL1,RNF223,SCNN1D,SDF4,TAS1R3,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 HGDP00661,HGDP00825,HGDP00978 nsv3538443 1 1007323 1007323 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413437 M 9 1 0 RNF223 HG00514 nsv3205983 1 1007323 1030112 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255286,nssv14255285 M 9 0 2 C1orf159,RNF223 HG00513,HG00514 nsv3211123 1 1007323 1030112 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259224,nssv14259226,nssv14259225,nssv14259223 M 9 4 0 C1orf159,RNF223 HG00512,HG00513,HG00514,NA19238 dgv9n152 1 1009540 1017357 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3175447,nsv3184852 M 9 0 0 C1orf159,RNF223 HG00514,NA19240 nsv5614130 1 1011000 1011000 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060104 M 35 1 0 "" HG01505 dgv10n152 1 1011021 1012710 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3205361,nsv3195959 M 9 0 3 "" HG00513,HG00514,NA19240 esv25577 1 1011188 1014828 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv14645 M 40 1 11 "" NA11993,NA12489,NA12878,NA18502,NA18511,NA18916,NA19099,NA19108,NA19129,NA19147,NA19190,NA19240 nsv5980648 1 1011235 1014794 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17524122 M 405 1 0 "" esv998069 1 1011248 1014683 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586245 M 3 1 0 "" HuRef dgv21n54 1 1011278 1014403 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544949,nsv544948 M 17421 0 2 "" nsv3319266 1 1011303 1012770 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478910 M 14 0 1 "" HG00514 nsv4731862 1 1011306 1013920 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270478 M 25 0 1 "" nsv6138260 1 1011368 1016380 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683655 M 3202 0 1 "" nsv3280880 1 1011560 1011918 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14450110 M 9 0 1 "" HG00733 nsv3319711 1 1011581 1011640 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488832,nssv14474451,nssv14490212,nssv14487299 M 14 0 4 "" CHM1,HG01352,HG02106,HG02818 nsv5583144 1 1011607 1012024 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060106 M 35 0 1 "" HG00731 nsv2799683 1 1011611 1011878 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13683307 M 2 0 1 "" nsv6041289 1 1011612 1011612 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537319 M 405 1 0 "" nsv5611619 1 1011619 1011619 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060107 M 35 1 0 "" NA24385 nsv5980577 1 1011627 1013178 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520324 M 405 0 1 "" nsv1126165 1 1011700 1012400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984392 M 2 0 1 "" KWS1 nsv3319064 1 1011701 1011878 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481497,nssv14482919,nssv14476520,nssv14486348,nssv14490176,nssv14480632,nssv14479219,nssv14475605 M 14 0 8 "" CHM1,CHM13,HG00268,HG00514,HG02106,HG02818,NA12878,NA19240 nsv5980649 1 1011718 1011897 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523065 M 405 0 1 "" nsv4736377 1 1011742 1011949 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278067 M 25 0 1 "" nsv3282246 1 1011879 1011999 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14449596 M 9 0 1 "" HG00733 nsv6041986 1 1011882 1011882 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521326 M 405 1 0 "" nsv5579816 1 1011905 1012084 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060108 M 35 0 1 "" HG00731 nsv2800574 1 1011906 1012145 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13687853 M 2 0 1 "" nsv3319065 1 1011906 1012145 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488505,nssv14476890,nssv14474632,nssv14472441,nssv14489110,nssv14488187,nssv14488234,nssv14490380,nssv14484942,nssv14488325 M 14 0 10 "" CHM13,HG00268,HG00514,HG00733,HG01352,HG02818,HG04217,NA12878,NA19240,NA19434 nsv2800332 1 1011916 1011916 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690019 M 2 1 0 "" nsv5624201 1 1011977 1011977 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060109 M 35 1 0 "" HG00512 nsv6042490 1 1012006 1012006 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527400 M 405 1 0 "" nsv6049382 1 1012065 1012065 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527578 M 405 1 0 "" nsv5618755 1 1012077 1012077 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059701 M 35 1 0 "" NA18939 nsv5566187 1 1012079 1012767 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059702 M 35 0 1 "" HG03065 nsv5568264 1 1012161 1014140 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059703 M 35 0 1 "" HG00732 nsv3319489 1 1012186 1012186 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472955 M 14 1 0 "" CHM1 nsv5611839 1 1012228 1012228 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059704 M 35 1 0 "" HG03732 nsv3279852 1 1012230 1012318 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14449312 M 9 0 1 "" HG00733 nsv6045459 1 1012239 1012239 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532774 M 405 1 0 "" nsv3319267 1 1012244 1012244 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481674 M 14 1 0 "" HG02106 nsv3319712 1 1012260 1012260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491339 M 14 1 0 "" CHM1 nsv6040692 1 1012290 1012290 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532460 M 405 1 0 "" nsv3319066 1 1012321 1012321 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472069 M 14 1 0 "" CHM1 nsv6051705 1 1012407 1012407 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529527 M 405 1 0 "" nsv3281084 1 1012407 1012466 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14451820 M 9 0 1 "" HG00733 nsv4034501 1 1012408 1013584 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780783,nssv15780782,nssv15780781,nssv15780779,nssv15780780 M 10847 0 0 "" nsv6041564 1 1012469 1012469 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524881 M 405 1 0 "" nsv2800418 1 1012470 1012531 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13695372 M 2 0 1 "" nsv3319490 1 1012484 1012543 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480385,nssv14479101,nssv14488424,nssv14476850 M 14 0 4 "" CHM1,HG02106,HG02818,NA19240 nsv3531650 1 1012589 1012589 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440486 M 9 1 0 "" HG00733 nsv3319068 1 1012622 1012622 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474595 M 14 1 0 "" CHM1 nsv3319713 1 1012647 1012706 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486831 M 14 0 1 "" HG02818 nsv5980578 1 1012678 1012799 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519046 M 405 0 1 "" nsv3319268 1 1012680 1012680 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484097 M 14 1 0 "" CHM1 nsv544950 1 1012680 1014625 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708507,nssv708508 M 17421 0 2 "" nsv3319491 1 1012698 1012817 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490651,nssv14484068,nssv14475372,nssv14473016,nssv14485699,nssv14481343,nssv14485968 M 14 0 7 "" CHM13,HG00268,HG01352,HG02106,HG02818,NA12878,NA19240 nsv1143426 1 1012700 1014000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980623 M 2 0 1 "" KWS1 nsv2799684 1 1012712 1013851 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13679545 M 2 0 1 "" nsv5980497 1 1012744 1013032 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517674 M 405 0 1 "" nsv6049957 1 1012785 1012785 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537519 M 405 1 0 "" nsv6048012 1 1012800 1012800 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521412 M 405 1 0 "" nsv3319492 1 1012860 1013849 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474569,nssv14489512,nssv14490652,nssv14482501,nssv14472813,nssv14481601 M 14 0 6 "" CHM13,HG00268,HG00514,HG01352,HG02106,HG02818 nsv3319069 1 1012903 1012962 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490822,nssv14476317 M 14 0 2 "" HG00514,HG00733 nsv3319269 1 1012950 1013009 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482075 M 14 0 1 "" HG02818 nsv3319493 1 1012982 1012982 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473105 M 14 1 0 "" HG00733 nsv5566948 1 1012991 1013650 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059706 M 35 0 1 "" HG00731 nsv6043913 1 1013020 1013020 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528826 M 405 1 0 "" nsv3319070 1 1013069 1013069 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472532 M 14 1 0 "" HG00733 nsv5569596 1 1013086 1013407 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059707 M 35 0 1 "" HG00513 nsv6043366 1 1013094 1013094 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536606 M 405 1 0 "" nsv3319270 1 1013101 1013190 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475704 M 14 0 1 "" HG00733 nsv3319714 1 1013147 1013357 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488507,nssv14487823,nssv14475876 M 14 0 3 "" HG00268,HG02818,NA19434 nsv3319271 1 1013206 1013206 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480141,nssv14487710,nssv14478255 M 14 3 0 "" CHM1,HG00514,HG02059 nsv5980650 1 1013236 1014217 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529609 M 405 0 1 "" nsv3319715 1 1013339 1013339 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479808 M 14 1 0 "" CHM1 nsv6044112 1 1013346 1013346 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533630 M 405 1 0 "" nsv3319494 1 1013356 1013356 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478080 M 14 1 0 "" HG00514 nsv3319716 1 1013429 1013429 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491849 M 14 1 0 "" NA19434 nsv6043616 1 1013432 1013432 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534607 M 405 1 0 "" nsv3319272 1 1013459 1013459 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489364 M 14 1 0 "" CHM1 nsv5574306 1 1013526 1013705 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059708 M 35 0 1 "" NA19239 nsv3319717 1 1013582 1013582 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477906 M 14 1 0 "" HG02106 nsv3319273 1 1013616 1013616 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477679,nssv14476581 M 14 2 0 "" CHM1,HG00268 nsv3280687 1 1013682 1013952 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14465600 M 9 0 1 "" HG00733 nsv5614648 1 1013683 1013683 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059709 M 35 1 0 "" NA19650 nsv3319718 1 1013700 1013700 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479854,nssv14490258,nssv14474053 M 14 3 0 "" CHM1,HG00268,HG04217 nsv3319496 1 1013790 1013790 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477891,nssv14485356,nssv14486389 M 14 3 0 "" HG00268,HG02818,NA19434 nsv3319497 1 1013820 1013820 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473728,nssv14480428,nssv14483529 M 14 3 0 "" HG00268,HG02818,NA19434 nsv6052397 1 1013821 1013821 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526824 M 405 1 0 "" nsv3319719 1 1013822 1013822 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481129 M 14 1 0 "" HG02106 nsv6050081 1 1013875 1013875 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519380 M 405 1 0 "" nsv6044061 1 1013909 1013909 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525711 M 405 1 0 "" nsv3319274 1 1013910 1013910 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476329,nssv14474332 M 14 2 0 "" HG02106,NA19434 nsv5616659 1 1013967 1013967 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059712 M 35 1 0 "" HG00731 nsv3319275 1 1013970 1013970 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480672,nssv14489543 M 14 2 0 "" HG02818,NA19434 nsv3319720 1 1013971 1013971 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491884 M 14 1 0 "" CHM1 nsv6041872 1 1014000 1014000 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526224 M 405 1 0 "" nsv3946444 1 1014061 1014061 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191679 M 1 1 0 "" HG002 nsv3319071 1 1014062 1014331 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485576,nssv14484505 M 14 0 2 "" HG00268,HG02106 nsv5980580 1 1014091 1014392 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530239 M 405 0 1 "" nsv3319276 1 1014150 1014150 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479744 M 14 1 0 "" HG00514 nsv5607629 1 1014163 1014163 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059714 M 35 1 0 "" HG03065 nsv6058995 1 1014176 1014176 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523683 M 405 1 0 "" nsv2799685 1 1014182 1014241 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13693266 M 2 0 1 "" nsv3319277 1 1014182 1014241 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477822 M 14 0 1 "" CHM13 nsv3319072 1 1014215 1014215 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476889 M 14 1 0 "" HG00514 nsv5980651 1 1014238 1014332 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535847 M 405 0 1 "" nsv5604862 1 1014245 1014245 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059715 M 35 1 0 "" HG00512 nsv5572860 1 1014257 1014362 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059716 M 35 0 1 "" HG00513 nsv6051392 1 1014316 1014316 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527473 M 405 1 0 "" nsv3319278 1 1014359 1014689 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481272 M 14 0 1 "" HG02818 nsv6043798 1 1014361 1014361 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527307 M 405 1 0 "" nsv6042281 1 1014419 1014419 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533913 M 405 1 0 "" nsv5980581 1 1014424 1014647 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527671 M 405 0 1 "" nsv6045268 1 1014480 1014480 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519740 M 405 1 0 "" nsv3319279 1 1014542 1014691 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479215,nssv14485706,nssv14482217 M 14 0 3 "" HG00268,HG02106,HG02818 nsv3319722 1 1014605 1014605 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478966 M 14 1 0 "" HG00514 nsv2800334 1 1014665 1014665 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684862 M 2 1 0 "" nsv6048091 1 1014692 1014692 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530245 M 405 1 0 "" nsv3319073 1 1014739 1014739 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482132 M 14 1 0 "" HG00514 nsv6055378 1 1014749 1014749 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523104 M 405 1 0 "" nsv3319723 1 1014763 1015185 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478918 M 14 0 1 "" HG02818 nsv6047822 1 1014793 1014793 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522059 M 405 1 0 "" nsv6057416 1 1014800 1014800 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523263 M 405 1 0 "" nsv3280326 1 1016017 1016145 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14452966 M 9 0 1 "" HG00733 nsv5980723 1 1016023 1016371 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17521902 M 405 1 0 "" nsv5608724 1 1016029 1016029 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059725 M 35 1 0 "" HG03125 nsv5579022 1 1016029 1016092 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059724 M 35 0 1 "" NA19238 nsv5576636 1 1016029 1016156 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059723 M 35 0 1 "" HG00731 nsv3319503 1 1016030 1016157 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486542,nssv14487559,nssv14482934,nssv14477410,nssv14475764,nssv14489354,nssv14491127 M 14 0 7 "" HG00268,HG00733,HG02059,HG02818,HG04217,NA19240,NA19434 nsv4732573 1 1016033 1016098 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16290834 M 25 0 1 "" nsv5980652 1 1016056 1016274 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519947 M 405 0 1 "" nsv5608372 1 1016200 1016200 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059726 M 35 1 0 "" HG00864 nsv3536242 1 1016296 1016296 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440487 M 9 1 0 "" HG00733 nsv3933130 1 1016296 1016296 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191723 M 1 1 0 "" HG002 nsv5618175 1 1016296 1016296 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059728,nssv17059727,nssv17059729 M 35 3 0 "" HG00731,HG01596,NA24385 nsv2800419 1 1016297 1016297 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687123 M 2 1 0 "" nsv6041043 1 1016350 1016350 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525594 M 405 1 0 "" nsv5827697 1 1017774 1025873 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452469 M 914 0 0 C1orf159 nsv5431467 1 1019492 1019819 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890092 M 3202 0 1 C1orf159 nsv5420430 1 1019922 1020006 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683658 M 3202 1 0 C1orf159 nsv4517276 1 1020257 1026368 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854407 M 10847 0 1 C1orf159 nsv5827908 1 1020474 1026973 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456348 M 914 0 0 C1orf159 nsv5980586 1 1023571 1023682 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529244 M 405 0 1 C1orf159 nsv6328117 1 1027835 1033335 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051156 M 19652 0 1 C1orf159 nsv1409 1 1030851 1060065 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4677 M 9 1 0 C1orf159 NA19129 nsv3182202 1 1033448 1036044 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14393900,nssv14393899 M 9 0 0 C1orf159 NA19240 dgv15e59 1 1034289 1035387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3352473,esv3385108 M 185 2 0 C1orf159 NA19238,NA19240 nsv6326706 1 1034356 1035217 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199247 M 19652 1 0 C1orf159 nsv5980668 1 1034368 1035284 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17520995 M 405 1 0 C1orf159 nsv6046214 1 1034396 1034396 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522707 M 405 1 0 C1orf159 nsv5426044 1 1034396 1035283 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891109 M 3202 1 0 C1orf159 nsv5610863 1 1034403 1034403 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060324 M 35 1 0 C1orf159 HG00731 esv1010559 1 1034408 1035203 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586664 M 3 1 0 C1orf159 HuRef esv23529 1 1034408 1035203 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv10745 M 40 24 0 C1orf159 NA06985,NA12414,NA12749,NA12776,NA12828,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19240,NA19257 nsv544951 1 1034431 1035132 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708511,nssv708510,nssv708513,nssv708509,nssv708512 M 17421 5 0 C1orf159 nsv4516548 1 1034436 1035236 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965459 M 10847 1 0 C1orf159 nsv3541442 1 1034439 1034439 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440488 M 9 1 0 C1orf159 HG00733 nsv5827913 1 1034439 1039462 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453781,nssv17459416,nssv17460433 M 914 0 0 C1orf159 nsv6040784 1 1034462 1034462 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535550 M 405 1 0 C1orf159 nsv5980738 1 1034478 1034554 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522392 M 405 0 1 C1orf159 nsv6046006 1 1034511 1034511 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523211 M 405 1 0 C1orf159 nsv3319520 1 1034537 1034537 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475596 M 14 1 0 C1orf159 HG00268 nsv4039453 1 1034545 1034891 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854502 M 10847 0 1 C1orf159 esv3679533 1 1034569 1034727 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500784 M 20 0 1 C1orf159 nsv3319089 1 1034583 1034583 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481112,nssv14489843,nssv14478462,nssv14484591,nssv14484275 M 14 5 0 C1orf159 HG00268,HG00733,HG02059,HG02818,NA19434 nsv5616412 1 1034628 1034628 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059902 M 35 1 0 C1orf159 HG02587 nsv6137883 1 1034630 1035129 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891165 M 3202 0 1 C1orf159 nsv6330335 1 1034632 1034968 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199249 M 19652 1 0 C1orf159 nsv4045432 1 1034650 1035090 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854964 M 10847 0 1 C1orf159 nsv3536763 1 1034853 1034853 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440492 M 9 1 0 C1orf159 HG00733 nsv5620523 1 1034854 1034854 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059903,nssv17059904 M 35 2 0 C1orf159 HG00731,HG00732 nsv1146879 1 1034891 1034941 CNV insertion John_et_al_2014 26484159 Sequencing nssv3998243 M 1 1 0 C1orf159 KWB1 nsv3532238 1 1034899 1034899 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440493 M 9 1 0 C1orf159 HG00733 nsv3319292 1 1034900 1034900 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485765,nssv14480280,nssv14489717,nssv14474771,nssv14490480 M 14 5 0 C1orf159 HG00268,HG00733,HG02059,HG02818,NA19434 nsv5617378 1 1034936 1034936 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059905 M 35 1 0 C1orf159 HG00731 nsv6040721 1 1034984 1034984 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536387 M 405 1 0 C1orf159 nsv3542501 1 1034995 1034995 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440494 M 9 1 0 C1orf159 HG00733 nsv5617530 1 1034995 1034995 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059906 M 35 1 0 C1orf159 HG02587 nsv6046379 1 1035009 1035009 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518467 M 405 1 0 C1orf159 esv1281251 1 1035015 1035015 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4028372 M 2 1 0 C1orf159 HuRef nsv3319522 1 1035016 1035016 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475718,nssv14484771,nssv14490817,nssv14484162,nssv14472218 M 14 5 0 C1orf159 HG00268,HG00733,HG02059,HG02818,NA19434 nsv3319091 1 1035028 1035028 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473243 M 14 1 0 C1orf159 HG02059 nsv1137716 1 1035031 1035110 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990217 M 2 0 1 C1orf159 KWS2 nsv3319092 1 1035051 1035051 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490643 M 14 1 0 C1orf159 HG02059 nsv6046864 1 1035077 1035077 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521202 M 405 1 0 C1orf159 nsv3319293 1 1035164 1035164 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490611 M 14 1 0 C1orf159 HG02059 nsv6323344 1 1036779 1039307 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050844 M 19652 0 1 C1orf159 nsv6541137 1 1038058 1038511 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247369 M 19652 0 0 C1orf159 nsv1119654 1 1041111 1069313 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982098 M 2 0 1 C1orf159 KWS1 nsv6331634 1 1042120 1051739 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050861 M 19652 0 1 C1orf159 nsv950452 1 1042301 1572900 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997159 M 1 0 1 ACAP3,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,B3GALT6,C1orf159,C1orf233,CCNL2,CDK11B,CPSF3L,DVL1,FAM132A,GLTPD1,LOC148413,LOC254099,MIB2,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,MIR6808,MMP23A,MMP23B,MRPL20,MXRA8,PUSL1,SCNN1D,SDF4,SSU72,TAS1R3,TMEM240,TMEM88B,TNFRSF18,TNFRSF4,TTLL10,UBE2J2,VWA1 BILGI_BIOE nsv5980522 1 1043127 1044107 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530180 M 405 0 1 C1orf159 esv3679947 1 1043520 1044289 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501157 M 20 0 1 C1orf159 nsv5426187 1 1043612 1044072 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891166 M 3202 0 1 C1orf159 nsv5579840 1 1043770 1043827 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059921 M 35 0 1 C1orf159 HG03486 nsv4735262 1 1043987 1044079 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281751 M 25 0 1 C1orf159 nsv4050988 1 1044006 1044519 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855056 M 10847 0 1 C1orf159 nsv3319295 1 1044018 1044078 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482741,nssv14479523,nssv14475977 M 14 0 3 C1orf159 HG00733,HG02059,NA19434 nsv3319296 1 1044044 1044044 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474138,nssv14478762 M 14 2 0 C1orf159 HG00733,HG02818 nsv3184397 1 1044080 1044137 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440495 M 9 0 0 C1orf159 HG00733 nsv5569173 1 1044168 1044226 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059922 M 35 0 1 C1orf159 HG00731 nsv3319098 1 1044169 1044231 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483683 M 14 0 1 C1orf159 HG02059 nsv3319746 1 1044207 1044299 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473772,nssv14491055 M 14 0 2 C1orf159 HG00733,HG02818 dgv11n152 1 1044207 1044319 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3283046,nsv3203086 M 9 0 4 C1orf159 HG00731,HG00732,HG00733,NA19240 nsv160439 1 1044215 1044525 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179017 M 24 C1orf159 nsv3941513 1 1044265 1044265 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191727 M 1 1 0 C1orf159 HG002 nsv5606183 1 1044265 1044265 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059923 M 35 1 0 C1orf159 NA24385 nsv3319099 1 1044320 1044320 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474104,nssv14485240,nssv14489884 M 14 3 0 C1orf159 HG00733,HG02059,NA19434 nsv6046561 1 1044408 1044408 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537288 M 405 1 0 C1orf159 nsv4532759 1 1045946 1045947 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025670 M 10847 1 0 C1orf159 nsv5543624 1 1045971 1045997 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891218 M 3202 1 0 C1orf159 nsv5432963 1 1046212 1055293 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891229 M 3202 1 0 C1orf159 nsv5827916 1 1046911 1058639 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461405 M 914 0 0 C1orf159 nsv5980523 1 1048826 1066852 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17523757 M 405 1 0 C1orf159 nsv5609581 1 1050860 1050860 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059944 M 35 1 0 C1orf159 HG02818 nsv5878375 1 1050900 1051164 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350604 M 914 0 1 C1orf159 nsv1126166 1 1050900 1052800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984393 M 2 0 1 C1orf159 KWS1 nsv3319750 1 1050935 1050935 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476113 M 14 1 0 C1orf159 HG02818 nsv5980675 1 1050942 1051024 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523502 M 405 0 1 C1orf159 nsv3319302 1 1051035 1051035 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481845 M 14 1 0 C1orf159 HG02818 esv32594 1 1051688 1051826 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv96399,essv92767 M 51 0 2 C1orf159 21944,22371 nsv6319193 1 1058450 1076538 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199276 M 19652 1 0 LOC254099 nsv3319754 1 1058891 1058970 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483998 M 14 0 1 "" HG02818 nsv5566036 1 1058898 1058977 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059959 M 35 0 1 "" HG00732 nsv5868817 1 1058898 1058977 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357085 M 914 0 1 "" esv3565536 1 1058898 1058978 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9764283 M 767 0 1 "" nsv6332144 1 1058898 1058978 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050948 M 19652 0 1 "" dgv12n152 1 1058898 1058993 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3526520,nsv3282456 M 9 0 3 "" HG00732,NA19238,NA19240 nsv5980530 1 1058904 1058984 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519156 M 405 0 1 "" nsv4041412 1 1058913 1058963 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856197 M 10847 0 1 "" nsv5431652 1 1058913 1058963 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891299 M 3202 0 1 "" nsv160193 1 1058914 1058993 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178771 M 24 "" nsv5827720 1 1059040 1065081 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456504 M 914 0 0 "" nsv5550207 1 1059423 1059426 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891345 M 3202 1 0 "" nsv5980678 1 1059446 1059501 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520572 M 405 0 1 "" nsv6315938 1 1064881 1074280 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050982 M 19652 0 1 LOC254099 nsv4038210 1 1064914 1074314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856281 M 10847 0 1 LOC254099 nsv6331093 1 1066359 1094141 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199294 M 19652 1 0 LOC254099 nsv6060316 1 1069264 1069264 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536593 M 405 1 0 "" nsv5418973 1 1069312 1073786 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891386 M 3202 0 1 LOC254099 esv3429749 1 1069832 1070259 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652034 M 185 1 0 "" NA19240 nsv4517461 1 1069854 1070235 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856665 M 10847 0 1 "" nsv6316060 1 1069925 1070053 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051590 M 19652 0 1 "" nsv4033451 1 1069929 1070053 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856285 M 10847 0 1 "" nsv5414505 1 1069929 1070053 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891395 M 3202 0 1 "" nsv4033439 1 1069951 1070742 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965854 M 10847 1 0 "" nsv5420952 1 1069951 1070742 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892052 M 3202 1 0 "" nsv3561282 1 1070119 1070119 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14312018 M 9 1 0 "" HG00732 nsv5609897 1 1070119 1070119 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059771 M 35 1 0 "" HG00731 nsv5980770 1 1070119 1070177 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533728 M 405 0 1 "" nsv5425170 1 1070119 1070222 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892053 M 3202 1 0 "" nsv1129451 1 1070128 1070186 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962904 M 2 1 0 "" KWS1 nsv3319548 1 1070129 1070129 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480587 M 14 1 0 "" NA19240 nsv4759643 1 1070138 1070138 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16289824 M 25 1 0 "" nsv6047058 1 1070147 1070147 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531188 M 405 1 0 "" nsv5614918 1 1070151 1070151 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059772 M 35 1 0 "" HG00732 nsv5879345 1 1070151 1070209 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17367599 M 914 1 0 "" nsv5980749 1 1070170 1070230 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532703 M 405 0 1 "" nsv5609442 1 1070175 1070175 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059773 M 35 1 0 "" NA19239 nsv3319760 1 1070176 1070176 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472406 M 14 1 0 "" NA19240 nsv3542839 1 1070186 1070186 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392178 M 9 1 0 "" NA19240 dgv13n152 1 1070186 1070255 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3177547,nsv3173821 M 9 0 0 "" HG00733,NA19240 nsv3542999 1 1070193 1070193 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440497 M 9 1 0 "" HG00733 nsv3319319 1 1070206 1070206 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479197,nssv14486529 M 14 2 0 "" HG01352,NA19434 nsv4050282 1 1070219 1070734 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856750 M 10847 0 1 "" nsv5419959 1 1070219 1070734 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892074 M 3202 0 1 "" nsv5536755 1 1070237 1070242 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892133 M 3202 1 0 "" esv2630187 1 1073076 1076966 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5357752 M 1 0 1 LOC254099 NA18507 nsv3198460 1 1073527 1080411 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14257792 M 9 0 1 LOC254099 HG00732 nsv3177481 1 1073633 1077744 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14458374,nssv14454049 M 9 0 0 LOC254099 HG00733 esv26506 1 1074379 1076117 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv13049 M 40 17 0 LOC254099 NA11894,NA12287,NA12414,NA12489,NA12749,NA15510,NA18502,NA18508,NA18517,NA18858,NA18861,NA18909,NA19099,NA19129,NA19147,NA19225,NA19257 nsv5572841 1 1074450 1074571 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059780 M 35 0 1 LOC254099 HG00171 nsv3319118 1 1074463 1074581 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487745,nssv14489396 M 14 0 2 LOC254099 HG00268,HG02106 nsv5980848 1 1074477 1074598 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537170 M 405 0 1 LOC254099 nsv3063025 1 1074488 1074611 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14036264 M 2 0 1 LOC254099 NA12878 nsv544953 1 1074524 1075878 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708515 M 17421 0 1 LOC254099 dgv22n54 1 1074524 1075980 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544955,nsv544952 M 17421 2 0 LOC254099 nsv4743989 1 1074571 1075181 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16271408 M 25 0 1 LOC254099 nsv544954 1 1074624 1121794 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708516 M 17421 0 1 LOC254099,MIR200A,MIR200B,MIR429,TTLL10 nsv5576740 1 1074632 1075485 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059781 M 35 0 1 LOC254099 HG00731 nsv3280698 1 1074644 1075011 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14395819 M 9 0 1 LOC254099 NA19240 nsv3319321 1 1074645 1074828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476878,nssv14477844,nssv14479313,nssv14491385,nssv14482742 M 14 0 5 LOC254099 HG01352,HG02059,HG02106,NA19240,NA19434 nsv5573792 1 1074730 1074851 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059782 M 35 0 1 LOC254099 NA19238 nsv3319322 1 1074755 1074755 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475123 M 14 1 0 LOC254099 HG02818 nsv6045089 1 1074766 1074766 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518730 M 405 1 0 LOC254099 nsv3319762 1 1074777 1074777 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485031 M 14 1 0 LOC254099 HG02818 nsv3319550 1 1074813 1074813 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473499,nssv14484074 M 14 2 0 LOC254099 HG01352,HG02106 nsv5604943 1 1074815 1074815 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059783 M 35 1 0 LOC254099 HG00731 nsv6048151 1 1074828 1074828 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518253 M 405 1 0 LOC254099 nsv3319323 1 1074874 1074874 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473106,nssv14482497 M 14 2 0 LOC254099 HG02106,HG02818 nsv3319119 1 1074935 1075422 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480738 M 14 0 1 LOC254099 HG00514 nsv3319324 1 1074951 1074951 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486338 M 14 1 0 LOC254099 HG02818 nsv6054886 1 1074974 1074974 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522540 M 405 1 0 LOC254099 nsv5980849 1 1075020 1075096 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524605 M 405 0 1 LOC254099 nsv2800589 1 1075021 1075081 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13677881 M 2 0 1 LOC254099 nsv3319325 1 1075021 1075081 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480165,nssv14489314 M 14 0 2 LOC254099 CHM1,HG00268 nsv3319120 1 1075038 1075038 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474588 M 14 1 0 LOC254099 NA19240 nsv3946565 1 1075047 1075657 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181062 M 1 0 1 LOC254099 HG002 nsv3319763 1 1075073 1075133 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480357 M 14 0 1 LOC254099 NA19434 nsv5980850 1 1075074 1075144 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537067 M 405 0 1 LOC254099 nsv5980771 1 1075122 1075180 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528017 M 405 0 1 LOC254099 nsv3319551 1 1075170 1075170 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483814 M 14 1 0 LOC254099 HG02818 nsv3319552 1 1075182 1075242 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479896,nssv14483933 M 14 0 2 LOC254099 HG02818,HX1 nsv3319326 1 1075182 1075365 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473876,nssv14480544,nssv14487703,nssv14480278,nssv14491824,nssv14475549,nssv14474849,nssv14483236 M 14 0 8 LOC254099 HG00268,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19434 dgv14n152 1 1075182 1075561 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3279777,nsv3282092 M 9 0 2 LOC254099 HG00514,NA19240 nsv2800350 1 1075204 1075569 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13685642 M 2 0 1 LOC254099 nsv3319764 1 1075204 1075569 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479143,nssv14481181,nssv14483212,nssv14476272,nssv14490991 M 14 0 5 LOC254099 CHM1,HG01352,HG02106,HG04217,NA12878 nsv3319121 1 1075221 1075221 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485969 M 14 1 0 LOC254099 NA19434 nsv3319327 1 1075221 1075281 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481227,nssv14479355,nssv14474602 M 14 0 3 LOC254099 HG00268,HG02106,HX1 nsv5980851 1 1075265 1075649 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520364 M 405 0 1 LOC254099 nsv5570025 1 1075303 1075607 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059784 M 35 0 1 LOC254099 HG03371 nsv3319765 1 1075304 1075304 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488024,nssv14485689 M 14 2 0 LOC254099 HG02818,NA19434 nsv3319766 1 1075343 1075343 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484214 M 14 1 0 LOC254099 HG02106 nsv5980852 1 1075357 1075415 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523227 M 405 0 1 LOC254099 nsv6044781 1 1075362 1075362 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524810 M 405 1 0 LOC254099 nsv5980920 1 1075387 1075458 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534996 M 405 0 1 LOC254099 nsv3319328 1 1075422 1075422 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478104 M 14 1 0 LOC254099 NA19240 nsv6057696 1 1075473 1075473 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531248 M 405 1 0 LOC254099 nsv3319329 1 1075500 1075621 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489606,nssv14483849,nssv14488975,nssv14476739,nssv14490985,nssv14488575,nssv14477365 M 14 0 7 LOC254099 HG00514,HG01352,HG02059,HG02106,HG02818,NA12878,NA19240 nsv5980751 1 1075501 1075553 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518773 M 405 0 1 LOC254099 nsv3952356 1 1075535 1075535 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192584 M 1 1 0 LOC254099 HG002 nsv5610447 1 1075535 1075535 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060325 M 35 1 0 LOC254099 NA24385 nsv5565359 1 1075547 1075729 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060326 M 35 0 1 LOC254099 NA19239 nsv3281991 1 1075548 1075670 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14423932 M 9 0 1 LOC254099 HG00514 nsv5568540 1 1075560 1075620 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060327 M 35 0 1 LOC254099 HG00171 nsv3184266 1 1075561 1075622 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14398601 M 9 0 0 LOC254099 NA19240 nsv5980772 1 1075673 1075732 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533212 M 405 0 1 LOC254099 nsv3319553 1 1075682 1075682 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489071,nssv14472496 M 14 2 0 LOC254099 HG00268,HX1 nsv5980854 1 1075708 1075771 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531517 M 405 0 1 LOC254099 nsv6055402 1 1075733 1075733 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520469 M 405 1 0 LOC254099 nsv3319554 1 1075744 1075744 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477892 M 14 1 0 LOC254099 HX1 nsv2800427 1 1075792 1075852 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13691582 M 2 0 1 LOC254099 nsv3319330 1 1075792 1075852 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478327,nssv14491395,nssv14476193,nssv14483805,nssv14483806 M 14 0 5 LOC254099 CHM1,HG01352,HG02106,NA19240,NA19434 nsv3182418 1 1075792 1075853 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14399548,nssv14425352 M 9 0 0 LOC254099 HG00514,NA19240 nsv5565170 1 1075852 1075973 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060328 M 35 0 1 LOC254099 HG00732 nsv5980773 1 1075867 1076047 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534479 M 405 0 1 LOC254099 nsv3319331 1 1075873 1075934 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485588 M 14 0 1 LOC254099 NA19434 nsv161017 1 1075907 1076089 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179595 M 24 LOC254099 nsv3176032 1 1075914 1075975 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14401401 M 9 0 0 LOC254099 NA19240 nsv3319332 1 1075914 1076035 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14492018,nssv14491079,nssv14488877,nssv14486052,nssv14484201,nssv14486593,nssv14479576 M 14 0 7 LOC254099 HG00514,HG01352,HG02059,HG02106,HG04217,NA12878,NA19434 nsv3280470 1 1075914 1076036 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14424626 M 9 0 1 LOC254099 HG00514 nsv3319122 1 1075974 1075974 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479192 M 14 1 0 LOC254099 NA19240 nsv3319333 1 1075975 1075975 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478840 M 14 1 0 LOC254099 NA19434 nsv6043957 1 1075978 1075978 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523867 M 405 1 0 LOC254099 nsv3534398 1 1075987 1075987 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378496 M 9 1 0 LOC254099 NA19240 nsv5605534 1 1076035 1076035 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060329 M 35 1 0 LOC254099 HG03486 nsv3319334 1 1076036 1076036 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483049,nssv14480958 M 14 2 0 LOC254099 HG00268,HX1 nsv3319335 1 1076044 1076044 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477272 M 14 1 0 LOC254099 HG02818 nsv1126167 1 1076300 1077000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984394 M 2 0 1 LOC254099 KWS1 nsv1074960 1 1076399 1077000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768187 M 1 0 1 LOC254099 KWP1 nsv5827614 1 1076492 1078491 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464068 M 914 0 0 LOC254099 nsv4517561 1 1076526 1078686 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963858 M 10847 1 0 LOC254099 nsv5431065 1 1076527 1078712 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892170 M 3202 1 0 LOC254099 nsv3532915 1 1076743 1076743 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413438 M 9 1 0 LOC254099 HG00514 nsv3952871 1 1076743 1076743 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192593 M 1 1 0 LOC254099 HG002 nsv5609389 1 1076743 1076743 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060332 M 35 1 0 LOC254099 HG00731 nsv5573173 1 1076743 1076801 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060331 M 35 0 1 LOC254099 HG03371 nsv5980752 1 1076744 1076802 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518693 M 405 0 1 LOC254099 nsv3319555 1 1076753 1076753 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479202,nssv14478618 M 14 2 0 LOC254099 HG00268,HG04217 nsv6045242 1 1076767 1076767 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531522 M 405 1 0 LOC254099 nsv4760554 1 1076770 1076770 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16277424 M 25 1 0 LOC254099 nsv3533649 1 1076812 1076812 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413440 M 9 1 0 LOC254099 HG00514 nsv5430302 1 1076814 1076917 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892250 M 3202 0 1 LOC254099 nsv2799705 1 1076816 1076816 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682577 M 2 1 0 LOC254099 nsv3319768 1 1076816 1076816 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481639,nssv14489264,nssv14488937,nssv14477233 M 14 4 0 LOC254099 CHM1,HG00514,HG04217,NA12878 nsv3319769 1 1076841 1076841 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487162 M 14 1 0 LOC254099 HG00514 esv3652880 1 1077490 1077490 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16476796 M 20 1 0 LOC254099 nsv4045929 1 1079812 1079871 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856829 M 10847 0 1 "" nsv4041168 1 1080809 1080911 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856914 M 10847 0 1 "" nsv6050729 1 1080927 1080927 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524332 M 405 1 0 "" nsv469848 1 1081462 1257615 CNV gain Locke_et_al_2006 16826518 BAC aCGH nssv1676084,nssv1675314,nssv1676113,nssv1672738,nssv1672307,nssv1675837,nssv1675619,nssv1674236,nssv1674285,nssv1672102,nssv1676489,nssv1672626,nssv1673566,nssv1672602,nssv1672396,nssv1674068,nssv1673131,nssv1673400,nssv1675092,nssv1673267,nssv1675926,nssv1672094,nssv1673022,nssv1674135,nssv1676663,nssv1676596,nssv1674548,nssv1674296,nssv1673733,nssv1674115,nssv1674020,nssv1676085,nssv1673139,nssv1672854,nssv1672467,nssv1672366,nssv1676561,nssv1672390,nssv1675327,nssv1673518,nssv1674154,nssv1675776,nssv1672244,nssv1674008,nssv1673798,nssv1674359,nssv1674019,nssv1672249,nssv1673850,nssv1676397,nssv1675455,nssv1675128,nssv1673413,nssv1675446,nssv1675739,nssv1675676,nssv1675375,nssv1674168 M 265 58 0 ACAP3,B3GALT6,CPSF3L,FAM132A,MIR200A,MIR200B,MIR429,MIR6726,MIR6727,PUSL1,SCNN1D,SDF4,TNFRSF18,TNFRSF4,TTLL10,UBE2J2 nsv5569345 1 1082524 1082739 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059788 M 35 0 1 "" HG03486 nsv5872154 1 1082524 1082739 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356445 M 914 0 1 "" esv2661109 1 1082524 1082740 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6109554,essv6312301,essv5620762,essv5909645,essv5505211,essv5855617,essv5709461,essv6472005,essv6539385,essv5486707,essv5752766,essv6113329,essv5914448,essv5439413,essv6421375,essv6174128,essv5558210 M 1151 0 17 "" NA18499,NA18501,NA18502,NA18909,NA19099,NA19257,NA19360,NA19381,NA19382,NA19397,NA19403,NA19428,NA19439,NA19457,NA19704,NA19819,NA19920 nsv3319770 1 1082526 1082741 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474278 M 14 0 1 "" HG02818 nsv5608312 1 1082588 1082588 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059789 M 35 1 0 "" HG00731 nsv4735099 1 1082602 1082675 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270444 M 25 0 1 "" nsv6057886 1 1082628 1082628 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529171 M 405 1 0 "" nsv5980757 1 1082665 1082738 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530830 M 405 0 1 "" esv3684907 1 1082681 1082791 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16469493 M 20 0 0 "" esv2524046 1 1083767 1088804 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5287439 M 1 0 1 "" NA18507 nsv5618526 1 1084235 1084235 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059790 M 35 1 0 "" HG00731 esv3681063 1 1084309 1084400 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502161 M 20 0 1 "" nsv6053185 1 1084369 1084369 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532493 M 405 1 0 "" nsv3319771 1 1084445 1084445 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481102 M 14 1 0 "" NA19434 nsv4048889 1 1084772 1095417 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857383 M 10847 0 1 "" esv2587289 1 1084823 1090940 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5220272 M 1 0 1 "" NA18507 nsv5572039 1 1084981 1085062 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060341 M 35 0 1 "" HG00731 nsv5874985 1 1084981 1085062 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355787 M 914 0 1 "" nsv3196315 1 1084981 1085063 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14313480 M 9 0 1 "" HG00731 nsv3319562 1 1084988 1085069 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477971 M 14 0 1 "" NA19434 nsv5980777 1 1084994 1085079 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532605 M 405 0 1 "" nsv6322214 1 1085317 1089970 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051682 M 19652 0 1 "" nsv5428547 1 1085317 1089984 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892251 M 3202 0 1 "" nsv4033051 1 1085317 1090008 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857144 M 10847 0 1 "" esv2317109 1 1086650 1087181 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4717325 M 1 0 1 "" NA18507 nsv3319772 1 1086815 1087023 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480507,nssv14489372 M 14 0 2 "" HG01352,HG02818 nsv5578387 1 1086817 1087022 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060342 M 35 0 1 "" HG00732 nsv5881214 1 1086817 1087022 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353364 M 914 0 1 "" esv2658760 1 1086817 1087023 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5789536,essv6073157,essv6109219,essv5636104,essv5721563,essv5437205,essv6584683,essv6397614,essv5898145,essv6322689,essv6362912,essv6191112,essv5543990,essv5964072,essv5930632,essv5991720,essv6154341,essv6213083,essv5594183,essv5547316,essv5758836,essv6558511,essv5459848,essv6112738,essv6285851,essv5458632,essv6593567,essv6312211,essv6530899,essv5524307,essv5667785,essv6500540,essv6005063,essv6108284,essv5562204,essv6504951,essv6185848,essv6218597,essv5956005,essv5474265,essv6056921,essv5950181,essv6549704,essv5681798,essv5605063,essv5802239,essv5706693,essv6580572,essv5726655,essv6034389,essv6031457,essv5957822,essv5541179,essv6175521,essv6364011,essv6096407,essv5623466,essv5641794,essv6151097,essv6246174,essv6552168,essv5850006,essv5458106,essv6170234,essv5556663,essv6472528,essv6079984,essv5436201,essv5747770,essv6205532,essv6330566,essv5787568,essv5979653,essv5511013,essv6046705,essv6352878,essv6590372,essv5967220,essv5832949,essv6120409,essv5990107,essv6441748,essv5752437,essv5551811 M 1151 0 84 "" HG01098,HG01108,HG01171,HG01350,HG01360,HG01462,HG01497,NA11918,NA11992,NA18486,NA18488,NA18498,NA18501,NA18502,NA18504,NA18507,NA18520,NA18522,NA18853,NA18858,NA18861,NA18867,NA18907,NA18908,NA18909,NA18917,NA18933,NA19092,NA19093,NA19099,NA19116,NA19138,NA19144,NA19153,NA19172,NA19190,NA19198,NA19223,NA19225,NA19247,NA19248,NA19313,NA19315,NA19317,NA19319,NA19321,NA19328,NA19347,NA19359,NA19372,NA19373,NA19375,NA19376,NA19377,NA19379,NA19381,NA19382,NA19384,NA19385,NA19390,NA19393,NA19394,NA19397,NA19399,NA19403,NA19443,NA19453,NA19466,NA19474,NA19704,NA19716,NA19758,NA19818,NA19819,NA19835,NA19900,NA19920,NA20278,NA20294,NA20296,NA20299,NA20322,NA20332,NA20336 nsv3525186 1 1086817 1087023 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14316763 M 9 0 1 "" HG00732 nsv6138408 1 1086821 1087023 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892314 M 3202 0 1 "" nsv4039757 1 1086821 1087034 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857241 M 10847 0 1 "" nsv509257 1 1087335 1124850 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619760 M 4 1 0 MIR200A,MIR200B,MIR429,TTLL10 NA10860 nsv5980926 1 1087787 1087872 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520082 M 405 0 1 "" nsv6319328 1 1087935 1088761 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199742 M 19652 1 0 "" nsv5620130 1 1088005 1088005 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060354 M 35 1 0 "" HG03486 nsv3319775 1 1088006 1088006 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485622 M 14 1 0 "" HG02818 nsv5980989 1 1088301 1088429 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518686 M 405 0 1 "" nsv4040362 1 1088338 1088670 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963866 M 10847 1 0 "" nsv5579791 1 1088406 1088491 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060355 M 35 0 1 "" HG00731 nsv3319126 1 1088584 1088713 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473287,nssv14472641 M 14 0 2 "" HG01352,NA19434 nsv6328144 1 1088592 1088721 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051697 M 19652 0 1 "" nsv5578647 1 1088630 1088715 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060356 M 35 0 1 "" HG03486 nsv5980991 1 1088768 1088855 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531784 M 405 0 1 "" nsv4037219 1 1091074 1157488 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855910 M 10847 0 1 MIR200A,MIR200B,MIR429,SDF4,TNFRSF18,TNFRSF4,TTLL10 nsv4048369 1 1091710 1091802 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857476 M 10847 0 1 "" nsv5873408 1 1091730 1091801 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354975 M 914 0 1 "" nsv5567817 1 1092686 1092742 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060111 M 35 0 1 "" HG00732 nsv5980779 1 1092686 1092743 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523283 M 405 0 1 "" nsv6334823 1 1099592 1100141 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051807 M 19652 0 1 "" nsv4049265 1 1099595 1100141 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857558 M 10847 0 1 "" nsv5418742 1 1099595 1100141 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892328 M 3202 0 1 "" nsv4044119 1 1103344 1103459 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857653 M 10847 0 1 "" nsv5570210 1 1103389 1103458 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059795 M 35 0 1 "" HG03125 nsv5873206 1 1103389 1103458 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359836 M 914 0 1 "" nsv4041740 1 1103957 1104534 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847105 M 10847 0 1 MIR429 nsv6334756 1 1106127 1109907 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051834 M 19652 0 1 TTLL10 nsv544956 1 1106473 1176597 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708518 M 17421 0 1 B3GALT6,SDF4,TNFRSF18,TNFRSF4,TTLL10 nsv4035112 1 1107835 1109304 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847184 M 10847 0 1 TTLL10 nsv5884508 1 1111230 1111360 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368697 M 914 0 1 TTLL10 nsv5616680 1 1111248 1111248 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059811 M 35 1 0 TTLL10 NA19239 nsv4761340 1 1111382 1111382 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16275902 M 25 1 0 TTLL10 esv3681493 1 1111383 1111467 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502548 M 20 0 1 TTLL10 nsv3533849 1 1111421 1111421 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382933 M 9 1 0 TTLL10 NA19240 nsv5616355 1 1111469 1111469 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059812 M 35 1 0 TTLL10 HG03125 nsv3319787 1 1111470 1111470 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14478977,nssv14490764,nssv14472756 M 14 3 0 TTLL10 HG00268,HG01352,NA19434 nsv5980934 1 1111508 1111613 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534895 M 405 0 1 TTLL10 nsv3319134 1 1111551 1111551 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481810 M 14 1 0 TTLL10 NA19434 nsv3319571 1 1111575 1111575 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14490669 M 14 1 0 TTLL10 NA19434 nsv6047246 1 1111630 1111630 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524989 M 405 1 0 TTLL10 nsv3319135 1 1111633 1111633 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481505 M 14 1 0 TTLL10 HG01352 nsv5619816 1 1111633 1111633 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059813 M 35 1 0 TTLL10 HG03486 nsv6052885 1 1111639 1111639 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525255 M 405 1 0 TTLL10 nsv5879725 1 1111651 1111708 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362668 M 914 0 1 TTLL10 nsv3319788 1 1111709 1111709 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480205 M 14 1 0 TTLL10 NA19434 nsv829536 1 1112147 1113089 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436321 M 31 1 0 TTLL10 NA18542 nsv4051847 1 1116193 1116364 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846777 M 10847 0 1 TTLL10 nsv4744892 1 1116350 1116410 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260504 M 25 0 1 TTLL10 nsv3538375 1 1117123 1117123 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413441,nssv14380301 M 9 2 0 TTLL10 HG00514,NA19240 nsv3220216 1 1117123 1122459 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14269591,nssv14269590 M 9 2 0 TTLL10 HG00514,NA19240 esv3335892 1 1119989 1120387 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691755 M 185 1 0 TTLL10 NA19238 nsv5606529 1 1120035 1120035 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060142,nssv17060144,nssv17060143 M 35 3 0 TTLL10 HG00731,HG02011,NA18939 nsv5566682 1 1120035 1120142 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060141 M 35 0 1 TTLL10 HG03371 nsv3319349 1 1120036 1120036 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472177,nssv14474343,nssv14480351,nssv14490279,nssv14478306,nssv14472094 M 14 6 0 TTLL10 HG00268,HG02106,HG02818,HX1,NA19240,NA19434 nsv2800437 1 1120036 1120251 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13677395 M 2 0 1 TTLL10 nsv3319139 1 1120036 1120251 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487984 M 14 0 1 TTLL10 CHM13 nsv3319140 1 1120070 1120070 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488524,nssv14487591,nssv14479029,nssv14482518,nssv14482124,nssv14482853,nssv14482591 M 14 7 0 TTLL10 HG00268,HG00514,HG00733,HG02106,HG02818,HX1,NA19434 nsv6329016 1 1120081 1180080 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199764 M 19652 1 0 B3GALT6,FAM132A,SDF4,TNFRSF18,TNFRSF4,TTLL10 nsv5873584 1 1120090 1120305 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353246 M 914 0 1 TTLL10 nsv5981003 1 1120092 1120198 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518972 M 405 0 1 TTLL10 nsv3532334 1 1120099 1120099 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388051 M 9 1 0 TTLL10 NA19240 nsv3319579 1 1120128 1120128 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485299 M 14 1 0 TTLL10 NA19240 dgv15n152 1 1120153 1120264 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3188975,nsv3177633 M 9 0 0 TTLL10 HG00514,HG00733 nsv3319141 1 1120173 1120173 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490289 M 14 1 0 TTLL10 NA19434 nsv3539214 1 1120195 1120195 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379000 M 9 1 0 TTLL10 NA19240 nsv6040687 1 1120265 1120265 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535286 M 405 1 0 TTLL10 nsv5621630 1 1120307 1120307 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060147,nssv17060146 M 35 2 0 TTLL10 HG00512,HG03683 nsv3319350 1 1120308 1120308 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481140,nssv14481424,nssv14472144,nssv14484908,nssv14485777,nssv14474726,nssv14488227 M 14 7 0 TTLL10 HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1 nsv3174746 1 1120318 1120533 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386964 M 9 0 0 TTLL10 NA19240 nsv3539919 1 1120328 1120328 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413443 M 9 1 0 TTLL10 HG00514 nsv3182458 1 1120337 1120444 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440499 M 9 0 0 TTLL10 HG00733 nsv3319792 1 1120343 1120343 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481030 M 14 1 0 TTLL10 NA19434 nsv3319793 1 1120359 1120359 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475974,nssv14483657,nssv14487478,nssv14475389,nssv14488054 M 14 5 0 TTLL10 HG00514,HG01352,HG02059,HG02106,HX1 nsv4458520 1 1121321 1121322 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024107 M 10847 1 0 TTLL10 nsv6138714 1 1123551 1123601 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893280 M 3202 1 0 TTLL10 nsv6242669 1 1124365 1124365 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17849851 M 1021 1 0 TTLL10 nsv6548734 1 1125409 1125925 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249889 M 19652 0 0 TTLL10 nsv5692760 1 1125640 1125640 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17204845 M 3202 1 0 TTLL10 nsv1110655 1 1127783 1127852 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3960310 M 2 1 0 TTLL10 KWS1 nsv3197535 1 1127788 1127860 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14322116,nssv14322115 M 9 0 2 TTLL10 HG00513,HG00514 nsv5604829 1 1127795 1127795 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060156 M 35 1 0 TTLL10 HG02011 nsv6045811 1 1127806 1127806 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528029 M 405 1 0 TTLL10 nsv6052201 1 1127846 1127846 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528966 M 405 1 0 TTLL10 nsv5886232 1 1127889 1128203 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357344 M 914 0 1 TTLL10 nsv4765361 1 1127926 1127926 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16267687 M 25 1 0 TTLL10 nsv3533832 1 1127976 1127976 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413444 M 9 1 0 TTLL10 HG00514 nsv3319795 1 1127977 1127977 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490106,nssv14490105,nssv14483627,nssv14482574,nssv14490333,nssv14473242,nssv14475224,nssv14480039,nssv14474808 M 14 9 0 TTLL10 HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HX1,NA19240,NA19434 nsv5615066 1 1128009 1128009 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060157 M 35 1 0 TTLL10 HG00731 nsv3319796 1 1128010 1128010 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488885,nssv14479908,nssv14486249,nssv14483059,nssv14488167,nssv14475452,nssv14481769,nssv14481171,nssv14473137 M 14 9 0 TTLL10 HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HX1,NA19240,NA19434 nsv3537504 1 1128082 1128082 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383169 M 9 1 0 TTLL10 NA19240 nsv3530425 1 1128124 1128124 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440500 M 9 1 0 TTLL10 HG00733 nsv3319351 1 1128136 1128136 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476730,nssv14485355 M 14 2 0 TTLL10 HG02818,NA19434 nsv6040843 1 1128147 1128147 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525674 M 405 1 0 TTLL10 nsv3319797 1 1128195 1128195 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14484543 M 14 1 0 TTLL10 HG01352 nsv5952748 1 1130880 1130880 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360542 M 914 1 0 TTLL10 nsv5608890 1 1131243 1131243 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060169 M 35 1 0 TTLL10 HG00731 nsv5874359 1 1131285 1131418 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356338 M 914 0 1 TTLL10 nsv3207697 1 1131285 1131419 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14326852 M 9 0 1 TTLL10 HG00732 nsv6057676 1 1131316 1131316 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524248 M 405 1 0 TTLL10 nsv3542724 1 1131343 1131343 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413445 M 9 1 0 TTLL10 HG00514 nsv3542460 1 1131353 1131353 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440501 M 9 1 0 TTLL10 HG00733 nsv3319799 1 1131365 1131365 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472138,nssv14487121,nssv14472801 M 14 3 0 TTLL10 HG00514,HG02059,HX1 nsv3226486 1 1132364 1149373 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14272102 M 9 1 0 TNFRSF18,TNFRSF4,TTLL10 HG00513 esv3655436 1 1133272 1133272 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479097 M 20 1 0 TTLL10 esv24081 1 1137003 1138283 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14081 M 40 8 0 "" NA18511,NA18523,NA18861,NA18907,NA18909,NA19099,NA19147,NA19190 nsv544957 1 1137126 1137653 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708519 M 17421 0 1 "" nsv5617253 1 1137158 1137158 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060188,nssv17060187 M 35 2 0 "" HG00732,HG01596 nsv3319801 1 1137159 1137159 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474048 M 14 1 0 "" NA19434 esv3341957 1 1137189 1137987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691757 M 185 1 0 "" NA19239 nsv5878420 1 1137190 1138158 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356204 M 914 0 1 "" nsv5416609 1 1137193 1138070 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893334 M 3202 0 1 "" nsv6042981 1 1137277 1137277 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521057 M 405 1 0 "" nsv6059322 1 1137287 1137287 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525454 M 405 1 0 "" nsv3319584 1 1137311 1137311 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479235 M 14 1 0 "" HG00268 nsv5579792 1 1137343 1137665 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060189 M 35 0 1 "" HG02587 nsv6043587 1 1137353 1137353 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536105 M 405 1 0 "" nsv5619598 1 1137359 1137359 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060190 M 35 1 0 "" NA19239 nsv3932539 1 1137360 1137360 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192659 M 1 1 0 "" HG002 nsv3319585 1 1137422 1137422 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480424 M 14 1 0 "" HG02818 dgv23n54 1 1137440 1138111 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544959,nsv544958 M 17421 2 0 "" nsv5617471 1 1137459 1137459 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060191 M 35 1 0 "" NA19238 nsv3319802 1 1137460 1137460 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484602 M 14 1 0 "" NA19434 nsv3536141 1 1137499 1137499 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389715 M 9 1 0 "" NA19240 nsv3542113 1 1137554 1137554 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391861 M 9 1 0 "" NA19240 nsv3319354 1 1137572 1137572 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472814,nssv14476750,nssv14472362 M 14 3 0 "" HG00268,HG01352,HG02059 esv3682305 1 1137581 1137943 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16503280 M 20 0 1 "" nsv3319804 1 1137665 1137665 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476381,nssv14482127 M 14 2 0 "" HG01352,HX1 nsv5609004 1 1137666 1137666 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059993 M 35 1 0 "" NA19238 nsv3319805 1 1137703 1137703 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488007,nssv14483989 M 14 2 0 "" HG02818,NA19434 nsv3538025 1 1137721 1137721 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413446 M 9 1 0 "" HG00514 nsv3535633 1 1137725 1137725 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440503 M 9 1 0 "" HG00733 nsv5980944 1 1137778 1137852 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522134 M 405 0 1 "" nsv3530931 1 1137797 1137797 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378842,nssv14440504 M 9 2 0 "" HG00733,NA19240 nsv3319586 1 1137798 1137798 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474753,nssv14478379,nssv14488574,nssv14478944,nssv14483037,nssv14485063 M 14 6 0 "" HG00268,HG02059,HG02106,HG02818,NA19240,NA19434 nsv3319587 1 1137800 1137800 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473233 M 14 1 0 "" HG01352 nsv3319355 1 1137821 1137821 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487171,nssv14479864,nssv14490962 M 14 3 0 "" HG00268,HG00514,HG02059 nsv5624325 1 1137824 1137824 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059994 M 35 1 0 "" HG00731 nsv6049020 1 1137875 1137875 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522933 M 405 1 0 "" nsv5606102 1 1137893 1137893 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059995 M 35 1 0 "" HG03065 nsv3532620 1 1137896 1137896 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376176 M 9 1 0 "" NA19240 nsv3319146 1 1137897 1137897 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479547 M 14 1 0 "" NA19434 nsv3319356 1 1137911 1137911 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489251,nssv14484048,nssv14490588,nssv14481629,nssv14477218,nssv14473450 M 14 6 0 "" HG00268,HG00514,HG02059,HG02106,HG02818,NA19434 nsv3536281 1 1137923 1137923 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413447 M 9 1 0 "" HG00514 nsv3319147 1 1137983 1137983 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486303,nssv14481074,nssv14490061,nssv14472570,nssv14476417,nssv14474033 M 14 6 0 "" HG00268,HG00514,HG02059,HG02106,HG02818,NA19434 esv3651026 1 1138008 1138127 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16475127 M 20 0 0 "" nsv544960 1 1139416 1142862 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708522 M 17421 0 1 TNFRSF18 dgv24n54 1 1140435 1148895 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544962,nsv544961 M 17421 0 2 TNFRSF18,TNFRSF4 nsv544963 1 1142325 1149661 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708525 M 17421 0 1 TNFRSF4 esv9332 1 1142503 1143267 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31773 M 1 0 0 "" esv3566647 1 1142700 1143161 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9765394 M 767 0 1 "" nsv4736661 1 1142712 1143131 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16290706 M 25 0 1 "" esv3584990 1 1142714 1143140 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840471,essv9839672,essv9840536,essv9839629,essv9840473,essv9839655,essv9840438,essv9839671,essv9840486,essv9839630,essv9840498,essv9839631,essv9840530,essv9839667,essv9840527,essv9839668,essv9840501,essv9839632,essv9840470,essv9839633,essv9840477,essv9839634,essv9840444,essv9839676,essv9840494,essv9839666,essv9840500,essv9839669,essv9840505,essv9839681,essv9840460,essv9839679,essv9840451,essv9839635,essv9840528,essv9839678,essv9840489,essv9839636,essv9840445,essv9839664,essv9840439,essv9839685,essv9840516,essv9839637,essv9840532,essv9839638,essv9840526,essv9839663,essv9840481,essv9839682,essv9840469,essv9839639,essv9840455,essv9839656,essv9840461,essv9839684,essv9840449,essv9839640,essv9840495,essv9839641,essv9840513,essv9839642,essv9840485,essv9839658,essv9840506,essv9839674,essv9840441,essv9839622,essv9840448,essv9839643,essv9840492,essv9839644,essv9840446,essv9839657,essv9840524,essv9839645,essv9840537,essv9839623,essv9840458,essv9839687,essv9840511,essv9839646,essv9840490,essv9839647,essv9840463,essv9839624,essv9840534,essv9839661,essv9840472,essv9839648,essv9840478,essv9839649,essv9840493,essv9839625,essv9840484,essv9839683,essv9840491,essv9839626,essv9840503,essv9839686,essv9840452,essv9839650,essv9840487,essv9839651,essv9840522,essv9839677,essv9840450,essv9839673,essv9840517,essv9839665,essv9840475,essv9839627,essv9840499,essv9839659,essv9840518,essv9839652,essv9840504,essv9839653,essv9840533,essv9839654,essv9840496,essv9839680,essv9840510,essv9839670,essv9840514,essv9839660,essv9840508,essv9839628,essv9840519,essv9839675,essv9840476,essv9839662,essv9840462,essv9840093,essv9839779,essv9840456,essv9840096,essv9839839,essv9840453,essv9840105,essv9839724,essv9840459,essv9840118,essv9839812,essv9840502,essv9840106,essv9839754,essv9840447,essv9840109,essv9839788,essv9840531,essv9840111,essv9839857,essv9840482,essv9840097,essv9839851,essv9840515,essv9840098,essv9839793,essv9840464,essv9840104,essv9839735,essv9840465,essv9840094,essv9839721,essv9840529,essv9840108,essv9839759,essv9840454,essv9840115,essv9839760,essv9840442,essv9840110,essv9839847,essv9840535,essv9840099,essv9839854,essv9840538,essv9840120,essv9839790,essv9840488,essv9840122,essv9839806,essv9840440,essv9840107,essv9839782,essv9840523,essv9840121,essv9839772,essv9840509,essv9840101,essv9839696,essv9840525,essv9840095,essv9839727,essv9840497,essv9840114,essv9839827,essv9840468,essv9840100,essv9839818,essv9840483,essv9840103,essv9839809,essv9840521,essv9840119,essv9839801,essv9840540,essv9840117,essv9839850,essv9840457,essv9840102,essv9839783,essv9840480,essv9840112,essv9839859,essv9840539,essv9840116,essv9839820,essv9840466,essv9840113,essv9839811,essv9840474,essv9839776,essv9840520,essv9839710,essv9840443,essv9839829,essv9840467,essv9839831,essv9840507,essv9839807,essv9840479,essv9839803,essv9840512,essv9839707,essv9840373,essv9839775,essv9840426,essv9839858,essv9840408,essv9839770,essv9840298,essv9839777,essv9840436,essv9839828,essv9840417,essv9839715,essv9840357,essv9839755,essv9840305,essv9839761,essv9840313,essv9839817,essv9840374,essv9839725,essv9840437,essv9839853,essv9840306,essv9839750,essv9840326,essv9839691,essv9840307,essv9839826,essv9840378,essv9839792,essv9840400,essv9839712,essv9840422,essv9839797,essv9840402,essv9839769,essv9840356,essv9839771,essv9840409,essv9839786,essv9840325,essv9839720,essv9840328,essv9839733,essv9840266,essv9839693,essv9840335,essv9839703,essv9840312,essv9839860,essv9840398,essv9839798,essv9840361,essv9839838,essv9840383,essv9839718,essv9840351,essv9839846,essv9840359,essv9839746,essv9840293,essv9839832,essv9840291,essv9839837,essv9840342,essv9839736,essv9840333,essv9839834,essv9840289,essv9839702,essv9840288,essv9839706,essv9840303,essv9839819,essv9840385,essv9839690,essv9840287,essv9839848,essv9840412,essv9839698,essv9840283,essv9839843,essv9840271,essv9839810,essv9840430,essv9839845,essv9840277,essv9839700,essv9840321,essv9839804,essv9840323,essv9839732,essv9840418,essv9839856,essv9840364,essv9839711,essv9840362,essv9839758,essv9840423,essv9839781,essv9840286,essv9839814,essv9840392,essv9839774,essv9840363,essv9839844,essv9840434,essv9839842,essv9840337,essv9839734,essv9840355,essv9839816,essv9840330,essv9839747,essv9840300,essv9839766,essv9840338,essv9839840,essv9840411,essv9839799,essv9840343,essv9839773,essv9840396,essv9839749,essv9840421,essv9839752,essv9840268,essv9839729,essv9840427,essv9839765,essv9840379,essv9839717,essv9840429,essv9839728,essv9840367,essv9839704,essv9840296,essv9839722,essv9840413,essv9839841,essv9840414,essv9839745,essv9840360,essv9839764,essv9840327,essv9839730,essv9840334,essv9839716,essv9840348,essv9839762,essv9840269,essv9839823,essv9840336,essv9839763,essv9840281,essv9839833,essv9840273,essv9839795,essv9840388,essv9839695,essv9840280,essv9839800,essv9840285,essv9839813,essv9840267,essv9839714,essv9840372,essv9839767,essv9840294,essv9839757,essv9840316,essv9839825,essv9840315,essv9839743,essv9840311,essv9839785,essv9840319,essv9839689,essv9840284,essv9839796,essv9840314,essv9839768,essv9840368,essv9839708,essv9840419,essv9839741,essv9840309,essv9839723,essv9840435,essv9839699,essv9840344,essv9839737,essv9840381,essv9839849,essv9840358,essv9839824,essv9840299,essv9839739,essv9840394,essv9839740,essv9840272,essv9839744,essv9840292,essv9839830,essv9840397,essv9839780,essv9840276,essv9839742,essv9840301,essv9839836,essv9840317,essv9839738,essv9840399,essv9839692,essv9840424,essv9839855,essv9840395,essv9839753,essv9840375,essv9839701,essv9840331,essv9839784,essv9840406,essv9839808,essv9840407,essv9839778,essv9840433,essv9839705,essv9840345,essv9839791,essv9840428,essv9839861,essv9840350,essv9839835,essv9840425,essv9839815,essv9840393,essv9839805,essv9840297,essv9839852,essv9840366,essv9839719,essv9840329,essv9839794,essv9840347,essv9839787,essv9840371,essv9839731,essv9840365,essv9839748,essv9840339,essv9839751,essv9840275,essv9839688,essv9840274,essv9839697,essv9840308,essv9839726,essv9840310,essv9839822,essv9840404,essv9839802,essv9840386,essv9839756,essv9840304,essv9839713,essv9840279,essv9839709,essv9840278,essv9839789,essv9840431,essv9839821,essv9840369,essv9839694,essv9840401,essv9840150,essv9840416,essv9840133,essv9840387,essv9840233,essv9840346,essv9840180,essv9840370,essv9840132,essv9840389,essv9840167,essv9840415,essv9840221,essv9840302,essv9840160,essv9840432,essv9840146,essv9840377,essv9840188,essv9840341,essv9840223,essv9840318,essv9840171,essv9840349,essv9840194,essv9840270,essv9840190,essv9840410,essv9840148,essv9840390,essv9840213,essv9840282,essv9840219,essv9840380,essv9840134,essv9840353,essv9840195,essv9840320,essv9840165,essv9840405,essv9840192,essv9840403,essv9840216,essv9840354,essv9840161,essv9840332,essv9840163,essv9840290,essv9840226,essv9840340,essv9840232,essv9840382,essv9840212,essv9840376,essv9840125,essv9840324,essv9840169,essv9840384,essv9840135,essv9840391,essv9840153,essv9840352,essv9840239,essv9840265,essv9840184,essv9840420,essv9840185,essv9840322,essv9840235,essv9840295,essv9840237,essv9839902,essv9840130,essv9839930,essv9840257,essv9840050,essv9840152,essv9839984,essv9840196,essv9840060,essv9840145,essv9839947,essv9840177,essv9840014,essv9840147,essv9839932,essv9840258,essv9839964,essv9840201,essv9840073,essv9840199,essv9839990,essv9840151,essv9839888,essv9840170,essv9839959,essv9840220,essv9839970,essv9840176,essv9839880,essv9840129,essv9839986,essv9840181,essv9839863,essv9840243,essv9839925,essv9840229,essv9839881,essv9840174,essv9840083,essv9840238,essv9840075,essv9840204,essv9839906,essv9840250,essv9839903,essv9840236,essv9840009,essv9840149,essv9839985,essv9840193,essv9840028,essv9840248,essv9839983,essv9840252,essv9840004,essv9840251,essv9839940,essv9840138,essv9839995,essv9840222,essv9840077,essv9840206,essv9839987,essv9840256,essv9840046,essv9840217,essv9839921,essv9840244,essv9839918,essv9840127,essv9839867,essv9840211,essv9839870,essv9840253,essv9840039,essv9840228,essv9840058,essv9840123,essv9839978,essv9840175,essv9839900,essv9840205,essv9839914,essv9840162,essv9840024,essv9840208,essv9840013,essv9840260,essv9839911,essv9840245,essv9840089,essv9840242,essv9840087,essv9840141,essv9839872,essv9840158,essv9839912,essv9840214,essv9839874,essv9840215,essv9840041,essv9840143,essv9839972,essv9840182,essv9840006,essv9840225,essv9840092,essv9840246,essv9839928,essv9840209,essv9840088,essv9840230,essv9840065,essv9840124,essv9840029,essv9840137,essv9839949,essv9840197,essv9839894,essv9840259,essv9839954,essv9840139,essv9840056,essv9840202,essv9840037,essv9840142,essv9839926,essv9840227,essv9839936,essv9840187,essv9839877,essv9840173,essv9839948,essv9840155,essv9840072,essv9840131,essv9839876,essv9840183,essv9840062,essv9840128,essv9839938,essv9840168,essv9840030,essv9840144,essv9840011,essv9840198,essv9839864,essv9840262,essv9839957,essv9840207,essv9840080,essv9840164,essv9840032,essv9840179,essv9840086,essv9840240,essv9840001,essv9840249,essv9839956,essv9840154,essv9840020,essv9840126,essv9839977,essv9840166,essv9840078,essv9840254,essv9840063,essv9840218,essv9839916,essv9840224,essv9839967,essv9840156,essv9839997,essv9840241,essv9839942,essv9840210,essv9839895,essv9840136,essv9839953,essv9840186,essv9840059,essv9840247,essv9840042,essv9840255,essv9840052,essv9840231,essv9840021,essv9840261,essv9839879,essv9840263,essv9839920,essv9840264,essv9840044,essv9840157,essv9839886,essv9840159,essv9840084,essv9840172,essv9840036,essv9840234,essv9839896,essv9840140,essv9840082,essv9840178,essv9840055,essv9840189,essv9839991,essv9840200,essv9839904,essv9840203,essv9840033,essv9840191,essv9839937,essv9840053,essv9839963,essv9839878,essv9840012,essv9839891,essv9840049,essv9839882,essv9839941,essv9840081,essv9840079,essv9840017,essv9839969,essv9839869,essv9840027,essv9839955,essv9840007,essv9839988,essv9839993,essv9840066,essv9840085,essv9839958,essv9839973,essv9840023,essv9839996,essv9840091,essv9839933,essv9840074,essv9839862,essv9840022,essv9839939,essv9840034,essv9839897,essv9839927,essv9840019,essv9839915,essv9839884,essv9840064,essv9839901,essv9840016,essv9840054,essv9839929,essv9839913,essv9840076,essv9839952,essv9839944,essv9839908,essv9840025,essv9840061,essv9839974,essv9840000,essv9839968,essv9839966,essv9840031,essv9839989,essv9840002,essv9840026,essv9839943,essv9839992,essv9839917,essv9840003,essv9839999,essv9839890,essv9840068,essv9839981,essv9839922,essv9839885,essv9840071,essv9839905,essv9839910,essv9839875,essv9839899,essv9840015,essv9839975,essv9839919,essv9839979,essv9839887,essv9839971,essv9839998,essv9840057,essv9839962,essv9839994,essv9839935,essv9840045,essv9839892,essv9840070,essv9839898,essv9839976,essv9840005,essv9839923,essv9840038,essv9840051,essv9839866,essv9839945,essv9839980,essv9839873,essv9839907,essv9839893,essv9840035,essv9839951,essv9839909,essv9840069,essv9840008,essv9839865,essv9839889,essv9839924,essv9840090,essv9840040,essv9839934,essv9840047,essv9839868,essv9840067,essv9839946,essv9839871,essv9839883,essv9839931,essv9840010,essv9840048,essv9840043,essv9840018,essv9839961,essv9839960,essv9839950,essv9839982,essv9839965 M 2504 0 919 "" HG00111,HG00115,HG00116,HG00118,HG00120,HG00128,HG00130,HG00136,HG00141,HG00143,HG00151,HG00154,HG00158,HG00179,HG00182,HG00190,HG00234,HG00236,HG00246,HG00250,HG00253,HG00258,HG00262,HG00264,HG00266,HG00267,HG00269,HG00275,HG00290,HG00306,HG00313,HG00315,HG00318,HG00328,HG00335,HG00338,HG00346,HG00353,HG00358,HG00362,HG00364,HG00366,HG00373,HG00384,HG00403,HG00404,HG00407,HG00409,HG00410,HG00419,HG00421,HG00422,HG00428,HG00436,HG00437,HG00442,HG00443,HG00445,HG00446,HG00448,HG00451,HG00452,HG00457,HG00458,HG00463,HG00464,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00551,HG00556,HG00557,HG00559,HG00560,HG00566,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00595,HG00599,HG00608,HG00610,HG00611,HG00613,HG00619,HG00620,HG00622,HG00623,HG00626,HG00628,HG00629,HG00631,HG00632,HG00634,HG00650,HG00651,HG00653,HG00662,HG00671,HG00672,HG00674,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00707,HG00708,HG00717,HG00728,HG00729,HG00740,HG00759,HG00766,HG00844,HG00851,HG00864,HG00879,HG00881,HG00956,HG00978,HG00982,HG01028,HG01029,HG01031,HG01047,HG01048,HG01054,HG01055,HG01058,HG01063,HG01064,HG01066,HG01069,HG01070,HG01079,HG01080,HG01083,HG01086,HG01104,HG01110,HG01111,HG01122,HG01124,HG01125,HG01136,HG01139,HG01148,HG01167,HG01171,HG01174,HG01176,HG01177,HG01182,HG01187,HG01191,HG01200,HG01204,HG01205,HG01247,HG01250,HG01251,HG01253,HG01254,HG01257,HG01259,HG01260,HG01272,HG01275,HG01277,HG01302,HG01305,HG01311,HG01341,HG01348,HG01351,HG01354,HG01356,HG01357,HG01359,HG01362,HG01369,HG01377,HG01378,HG01393,HG01402,HG01405,HG01413,HG01432,HG01435,HG01437,HG01440,HG01444,HG01447,HG01456,HG01459,HG01462,HG01464,HG01488,HG01489,HG01491,HG01492,HG01494,HG01495,HG01497,HG01519,HG01528,HG01536,HG01550,HG01556,HG01571,HG01572,HG01578,HG01597,HG01598,HG01599,HG01600,HG01603,HG01605,HG01612,HG01613,HG01686,HG01700,HG01702,HG01705,HG01710,HG01757,HG01761,HG01768,HG01770,HG01773,HG01786,HG01794,HG01795,HG01796,HG01797,HG01798,HG01799,HG01801,HG01802,HG01804,HG01806,HG01807,HG01808,HG01809,HG01810,HG01811,HG01812,HG01813,HG01815,HG01817,HG01840,HG01841,HG01843,HG01844,HG01845,HG01847,HG01848,HG01849,HG01850,HG01851,HG01852,HG01853,HG01855,HG01857,HG01858,HG01860,HG01861,HG01862,HG01863,HG01864,HG01865,HG01866,HG01867,HG01868,HG01869,HG01870,HG01871,HG01872,HG01873,HG01874,HG01878,HG01879,HG01892,HG01893,HG01917,HG01918,HG01920,HG01921,HG01923,HG01924,HG01926,HG01927,HG01935,HG01938,HG01939,HG01941,HG01942,HG01944,HG01945,HG01947,HG01948,HG01950,HG01951,HG01953,HG01961,HG01967,HG01968,HG01970,HG01971,HG01973,HG01974,HG01977,HG01979,HG01980,HG01982,HG01991,HG01992,HG01997,HG02002,HG02003,HG02008,HG02016,HG02017,HG02023,HG02025,HG02026,HG02029,HG02031,HG02032,HG02035,HG02040,HG02047,HG02048,HG02050,HG02057,HG02058,HG02060,HG02061,HG02064,HG02069,HG02070,HG02072,HG02073,HG02075,HG02076,HG02078,HG02079,HG02081,HG02082,HG02084,HG02085,HG02086,HG02087,HG02088,HG02102,HG02104,HG02105,HG02113,HG02116,HG02121,HG02122,HG02133,HG02136,HG02139,HG02141,HG02142,HG02146,HG02147,HG02150,HG02151,HG02152,HG02153,HG02154,HG02155,HG02156,HG02164,HG02165,HG02166,HG02178,HG02179,HG02180,HG02181,HG02182,HG02184,HG02186,HG02187,HG02188,HG02190,HG02215,HG02223,HG02232,HG02238,HG02250,HG02252,HG02259,HG02262,HG02265,HG02266,HG02271,HG02272,HG02274,HG02275,HG02277,HG02278,HG02283,HG02286,HG02291,HG02292,HG02298,HG02299,HG02301,HG02304,HG02312,HG02348,HG02351,HG02353,HG02355,HG02356,HG02360,HG02364,HG02367,HG02371,HG02373,HG02375,HG02379,HG02380,HG02382,HG02383,HG02384,HG02385,HG02386,HG02389,HG02390,HG02391,HG02392,HG02395,HG02396,HG02397,HG02398,HG02399,HG02401,HG02402,HG02406,HG02407,HG02409,HG02410,HG02420,HG02425,HG02429,HG02450,HG02470,HG02479,HG02490,HG02491,HG02494,HG02502,HG02512,HG02513,HG02521,HG02522,HG02603,HG02649,HG02654,HG02661,HG02682,HG02685,HG02690,HG02696,HG02699,HG02727,HG02728,HG02734,HG02783,HG02790,HG03007,HG03009,HG03012,HG03019,HG03096,HG03235,HG03437,HG03490,HG03557,HG03589,HG03593,HG03598,HG03600,HG03604,HG03607,HG03619,HG03624,HG03625,HG03629,HG03631,HG03634,HG03640,HG03644,HG03645,HG03646,HG03663,HG03681,HG03686,HG03689,HG03690,HG03692,HG03695,HG03696,HG03698,HG03703,HG03706,HG03708,HG03711,HG03716,HG03718,HG03729,HG03733,HG03738,HG03743,HG03745,HG03755,HG03757,HG03762,HG03767,HG03773,HG03778,HG03784,HG03785,HG03789,HG03793,HG03796,HG03800,HG03802,HG03803,HG03805,HG03808,HG03812,HG03814,HG03815,HG03826,HG03832,HG03838,HG03844,HG03851,HG03858,HG03862,HG03864,HG03866,HG03873,HG03874,HG03886,HG03890,HG03895,HG03899,HG03911,HG03913,HG03916,HG03928,HG03931,HG03940,HG03943,HG03949,HG03955,HG03960,HG03965,HG03967,HG03969,HG03973,HG03976,HG03977,HG03985,HG03989,HG03998,HG03999,HG04001,HG04017,HG04020,HG04026,HG04029,HG04033,HG04047,HG04061,HG04062,HG04063,HG04076,HG04090,HG04094,HG04099,HG04131,HG04144,HG04152,HG04153,HG04156,HG04158,HG04161,HG04162,HG04164,HG04189,HG04194,HG04200,HG04202,HG04206,HG04209,HG04222,HG04225,HG04235,NA06985,NA06994,NA07048,NA07056,NA11843,NA11894,NA11918,NA12005,NA12043,NA12144,NA12155,NA12249,NA12273,NA12283,NA12286,NA12341,NA12383,NA12413,NA12718,NA12749,NA12760,NA12828,NA12829,NA12830,NA12874,NA12889,NA18525,NA18526,NA18528,NA18530,NA18531,NA18533,NA18534,NA18536,NA18537,NA18538,NA18539,NA18541,NA18543,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18555,NA18558,NA18559,NA18560,NA18566,NA18571,NA18573,NA18577,NA18579,NA18582,NA18591,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18623,NA18625,NA18627,NA18628,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18638,NA18639,NA18641,NA18642,NA18643,NA18644,NA18646,NA18647,NA18648,NA18740,NA18747,NA18748,NA18749,NA18757,NA18874,NA18910,NA18934,NA18940,NA18941,NA18942,NA18943,NA18944,NA18946,NA18947,NA18949,NA18950,NA18951,NA18953,NA18954,NA18957,NA18959,NA18960,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18981,NA18982,NA18983,NA18984,NA18985,NA18986,NA18987,NA18989,NA18990,NA18991,NA18992,NA18993,NA18994,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19004,NA19005,NA19006,NA19009,NA19010,NA19011,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19063,NA19064,NA19065,NA19066,NA19067,NA19070,NA19072,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19091,NA19443,NA19649,NA19652,NA19654,NA19655,NA19657,NA19658,NA19663,NA19664,NA19676,NA19679,NA19681,NA19682,NA19684,NA19719,NA19722,NA19728,NA19731,NA19732,NA19734,NA19735,NA19741,NA19746,NA19747,NA19749,NA19750,NA19755,NA19758,NA19759,NA19762,NA19764,NA19770,NA19773,NA19776,NA19780,NA19785,NA19788,NA19789,NA19794,NA19900,NA20127,NA20278,NA20299,NA20314,NA20317,NA20318,NA20412,NA20507,NA20510,NA20518,NA20529,NA20582,NA20585,NA20589,NA20767,NA20770,NA20783,NA20786,NA20792,NA20795,NA20796,NA20798,NA20804,NA20807,NA20809,NA20812,NA20818,NA20819,NA20822,NA20832,NA20847,NA20852,NA20854,NA20864,NA20866,NA20867,NA20869,NA20870,NA20872,NA20881,NA20887,NA20890,NA20892,NA20895,NA20897,NA20899,NA20904,NA20908,NA20911,NA21088,NA21089,NA21097,NA21098,NA21102,NA21105,NA21110,NA21111,NA21114,NA21119,NA21128,NA21130,NA21133,NA21141 nsv1069687 1 1142718 1143140 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766358 M 1 0 1 "" KWP1 nsv5581336 1 1142719 1143139 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060019 M 35 0 1 "" HG00512 nsv5884251 1 1142719 1143139 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360787 M 914 0 1 "" dgv16n152 1 1142719 1143140 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3202131,nsv3198041 M 9 0 2 "" HG00512,HG00514 dgv9n106 1 1142719 1143140 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1134959,nsv1121063 M 2 0 1 "" KWS2 esv2673981 1 1142719 1143140 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6352121,essv5623261,essv5616249,essv6063198,essv5938197,essv5429106,essv5656577,essv5941170,essv5496511,essv6463915,essv6320910,essv5465256,essv5740683,essv5578554,essv6320340,essv5703075,essv6228976,essv6205811,essv5468369,essv5471503,essv5545854,essv5498166,essv5434081,essv5941008,essv6151804,essv5577785,essv5467001,essv6580334,essv5793601,essv6488935,essv5977635,essv5459892,essv5578606,essv5887860,essv5796220,essv5885998,essv6241074,essv6386945,essv6480469,essv5577522,essv5410354,essv6144046,essv5548255,essv5633920,essv6237721,essv5948251,essv6538355,essv5978628,essv6363574,essv6224800,essv6567171,essv6001217,essv6327643,essv5910221,essv5615034,essv5888259,essv6351628,essv6524753,essv5914728,essv5945444,essv5863471,essv5973359,essv5721341,essv6014100,essv5933284,essv6447551,essv5596504,essv5973645,essv6446815,essv6204433,essv6199767,essv6437150,essv6561033,essv6471445,essv6426568,essv6474836,essv6074043,essv6542299,essv5503996,essv5398394,essv5830102,essv6560586,essv6056766,essv5867308,essv6381288,essv5424544,essv5812347,essv6522474,essv5752385,essv6537251,essv5426116,essv6414705,essv6181789,essv6143825,essv5803129,essv5479850,essv5950163,essv5832123,essv5515576,essv5615345,essv6336469,essv6428860,essv6493220,essv6349629,essv5471360,essv6325266,essv6538862,essv5657226,essv5995640,essv6364636,essv6021886,essv5905120,essv5817920,essv5514109,essv5407641,essv5674877,essv6163227,essv6414527,essv5843050,essv6420303,essv5711626,essv5492773,essv5648964,essv5431171,essv6194663,essv5904698,essv5885018,essv5513375,essv5655953,essv6553185,essv6339144,essv5732879,essv5757575,essv5991660,essv5649812,essv6276421,essv6368218,essv6114438,essv5490777,essv5616664,essv6286183,essv5748924,essv5738934,essv5456664,essv6538666,essv6456001,essv5883227,essv6424641,essv6278709,essv6101186,essv5644417,essv6434770,essv5652419,essv5517206,essv5742494,essv6123419,essv5746960,essv5790385,essv5488749,essv6244536,essv6026203,essv5615341,essv5411481,essv6300674,essv5470790,essv6208875,essv5751448,essv5583578,essv6502810,essv6532865,essv5903725,essv5663198,essv6458867,essv5420730,essv6498297,essv5825826,essv5509795,essv6258016,essv5471121,essv6335967,essv5874172,essv6553343,essv6354596,essv6375782,essv5607310,essv6101258,essv5568792,essv6390017,essv6529541,essv6149675,essv6013025,essv5702989,essv6439682,essv6396639,essv6438293,essv6223357,essv6207338,essv5713207,essv5971444,essv5479749,essv6557644,essv5565444,essv5783493,essv5834705,essv6377477,essv5864128,essv5901085,essv6409217,essv6001694,essv5936962,essv5750987,essv5525837,essv6174159,essv5817051,essv5859573,essv6265257,essv6275996,essv5887466,essv5919286,essv5535991,essv6400391,essv6278188,essv5618107,essv6220846,essv6177899,essv5804443,essv6513521,essv6226909,essv6591878,essv6128686,essv6217750,essv5836591,essv6158659,essv5602057,essv5845678,essv6583114,essv6220496,essv6051065,essv5491686,essv6531799,essv5594683,essv5898963,essv6226006,essv6360631,essv6083679,essv5638447,essv6578498,essv5828027,essv6315900,essv6231889,essv6448880,essv5746061,essv5938008,essv6445344,essv5467091,essv6564758,essv6252430,essv6406899,essv5469789,essv6460089,essv5660197,essv6215106,essv5517797,essv5834192,essv6280172,essv6295641,essv6262943,essv6392240,essv6256029,essv5733303,essv6188254,essv5850739,essv6359108,essv6234077,essv6101279,essv6173656,essv5974899,essv6396964,essv6146097,essv5518716,essv6064219,essv6350182,essv6067469,essv5559627,essv6582863,essv5910672,essv5706433,essv5944582,essv6025649,essv5499361,essv6104290,essv6262209,essv5999100,essv6414667,essv5922588,essv5883717,essv6460871,essv6539319,essv6118569,essv5841447,essv5559069,essv5985350,essv6437407,essv6260022,essv6045437,essv6368260,essv6243422,essv5909372,essv6457377,essv6341849,essv5795930,essv5496017,essv5726618,essv6100913 M 1151 0 314 "" HG00111,HG00115,HG00136,HG00143,HG00152,HG00158,HG00190,HG00236,HG00246,HG00250,HG00253,HG00258,HG00269,HG00275,HG00313,HG00315,HG00318,HG00328,HG00335,HG00338,HG00346,HG00353,HG00373,HG00403,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00559,HG00560,HG00566,HG00577,HG00578,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00595,HG00596,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00628,HG00629,HG00634,HG00635,HG00650,HG00651,HG00653,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00704,HG00707,HG00708,HG00740,HG01047,HG01048,HG01055,HG01066,HG01069,HG01070,HG01079,HG01083,HG01124,HG01125,HG01136,HG01171,HG01174,HG01187,HG01204,HG01250,HG01251,HG01351,HG01354,HG01356,HG01357,HG01359,HG01440,HG01456,HG01462,HG01488,HG01489,HG01491,HG01492,HG01494,HG01550,NA07048,NA07056,NA07346,NA11843,NA11894,NA11918,NA12155,NA12249,NA12283,NA12286,NA12413,NA12718,NA12828,NA12829,NA12889,NA18526,NA18530,NA18534,NA18536,NA18537,NA18538,NA18539,NA18541,NA18543,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18555,NA18558,NA18559,NA18560,NA18566,NA18571,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18621,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18638,NA18940,NA18941,NA18942,NA18943,NA18944,NA18947,NA18949,NA18950,NA18951,NA18953,NA18959,NA18960,NA18961,NA18963,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18981,NA18982,NA18983,NA18984,NA18985,NA18986,NA18987,NA18989,NA18990,NA18999,NA19000,NA19004,NA19005,NA19009,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19060,NA19063,NA19064,NA19065,NA19066,NA19067,NA19070,NA19072,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088,NA19652,NA19655,NA19657,NA19658,NA19663,NA19664,NA19676,NA19679,NA19681,NA19682,NA19684,NA19719,NA19722,NA19728,NA19749,NA19755,NA19759,NA19770,NA19773,NA19776,NA19780,NA19785,NA19789,NA19900,NA20299,NA20317,NA20518,NA20529,NA20585,NA20770,NA20786,NA20792,NA20795,NA20796,NA20798,NA20800,NA20807,NA20809,NA20818 nsv4518395 1 1142719 1143140 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845808 M 10847 0 1 "" nsv5422314 1 1142719 1143140 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893335 M 3202 0 1 "" nsv5980948 1 1142719 1143140 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525644 M 405 0 1 "" nsv6323057 1 1142719 1143140 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051303 M 19652 0 1 "" esv3683471 1 1142719 1143141 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16463791 M 20 0 1 "" nsv3319594 1 1142720 1143140 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488194,nssv14490521,nssv14476202,nssv14477389 M 14 0 4 "" HG00514,HG01352,HG02059,HG02106 nsv4390823 1 1142720 1143140 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15706292 M 174 0 1 "" nsv4432928 1 1142720 1143140 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15753527,nssv15746320,nssv15754299,nssv15746526,nssv15752301,nssv15752138,nssv15749256 M 15 0 7 "" BTQ038,BTQ055,NB10,NB11,NB12,SMI018,SMI041 nsv4047010 1 1143240 1143357 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846637 M 10847 0 1 "" nsv455661 1 1152631 1211292 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv533179 M 1557 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 1782681247_A nsv544964 1 1152631 1211292 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172577 M 17421 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 1782681247_A nsv544965 1 1152631 1242084 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708526 M 17421 0 1 ACAP3,B3GALT6,FAM132A,MIR6726,SCNN1D,SDF4,UBE2J2 nsv159887 1 1153093 1157960 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178465 M 24 SDF4 nsv3115620 1 1153631 1169086 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14102878 M 467 0 1 B3GALT6,SDF4 sample400 nsv3116186 1 1156494 1192574 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14092011 M 467 0 1 B3GALT6,FAM132A,SDF4,UBE2J2 sample279 nsv5980969 1 1158381 1158477 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529384 M 405 0 1 SDF4 nsv5431351 1 1161053 1161738 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893376 M 3202 0 1 SDF4 nsv4045167 1 1161060 1161738 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847662 M 10847 0 1 SDF4 nsv5573411 1 1161693 1161755 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060901 M 35 0 1 SDF4 HG00731 nsv3187347 1 1161694 1161757 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14459090,nssv14427354 M 9 0 0 SDF4 HG00514,HG00733 nsv3319175 1 1161695 1161757 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490210,nssv14479337,nssv14486703 M 14 0 3 SDF4 HG00514,HG00733,HX1 nsv3206219 1 1161703 1161766 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14333539,nssv14333540,nssv14333536,nssv14333538,nssv14333541,nssv14333537 M 9 0 6 SDF4 HG00513,HG00514,HG00731,HG00732,HG00733,NA19239 nsv4746970 1 1161710 1161772 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16265252 M 25 0 1 SDF4 nsv5878383 1 1161716 1161778 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349843 M 914 0 1 SDF4 esv3653729 1 1161716 1161781 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16477560 M 20 0 0 SDF4 nsv5981034 1 1161721 1161782 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523640 M 405 0 1 SDF4 dgv17n152 1 1162664 1162846 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280701,nsv3525472 M 9 0 6 SDF4 HG00513,HG00514,HG00731,HG00732,HG00733,NA19239 nsv4747330 1 1162671 1162844 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16287766 M 25 0 1 SDF4 nsv5570328 1 1162672 1162845 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060902 M 35 0 1 SDF4 HG00731 nsv5873632 1 1162672 1162845 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354867 M 914 0 1 SDF4 esv3651242 1 1162672 1162847 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464503 M 20 0 1 SDF4 esv3540788 1 1162672 1162882 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9739535 M 767 0 1 SDF4 nsv5980818 1 1162674 1162849 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522939 M 405 0 1 SDF4 nsv3319602 1 1162682 1162845 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475100,nssv14472987,nssv14478906 M 14 0 3 SDF4 HG00514,HG00733,HX1 nsv5414608 1 1162705 1162837 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893377 M 3202 0 1 SDF4 nsv4038629 1 1162705 1163192 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847754 M 10847 0 1 SDF4 nsv6046473 1 1162757 1162757 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536759 M 405 1 0 SDF4 nsv821698 1 1164350 1169770 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1433403 M 31 1 0 B3GALT6,SDF4 NA18526 nsv4052015 1 1167854 1167908 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847785 M 10847 0 1 B3GALT6 esv33767 1 1168116 1169076 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv95205,essv92753,essv96403 M 51 0 3 B3GALT6 21721,21944,22371 nsv4569245 1 1170330 1170331 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025757 M 10847 1 0 B3GALT6 esv3584991 1 1171539 1179729 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840605,essv9840582,essv9840602,essv9840583,essv9840604,essv9840587,essv9840603,essv9840581,essv9840593,essv9840558,essv9840588,essv9840592,essv9840551,essv9840589,essv9840590,essv9840549,essv9840585,essv9840591,essv9840545,essv9840586,essv9840559,essv9840584,essv9840552,essv9840596,essv9840550,essv9840595,essv9840557,essv9840597,essv9840555,essv9840601,essv9840542,essv9840594,essv9840541,essv9840600,essv9840561,essv9840599,essv9840547,essv9840598,essv9840543,essv9840566,essv9840554,essv9840565,essv9840553,essv9840573,essv9840548,essv9840569,essv9840546,essv9840580,essv9840544,essv9840571,essv9840556,essv9840563,essv9840560,essv9840574,essv9840570,essv9840578,essv9840576,essv9840568,essv9840575,essv9840564,essv9840579,essv9840567,essv9840562,essv9840577,essv9840572 M 2504 65 0 FAM132A HG00341,HG00345,HG00346,HG00353,HG00376,HG00378,HG00382,HG00383,HG00406,HG00419,HG00421,HG00422,HG00428,HG00437,HG00442,HG00443,HG00445,HG00448,HG00451,HG00452,HG00457,HG00473,HG00475,HG00476,HG00479,HG00536,HG00844,HG00851,HG00881,HG00956,HG00982,HG01028,HG01029,HG01046,HG01085,HG01086,HG01104,HG01105,HG01348,HG01625,HG01700,HG01702,HG01860,HG01880,HG01896,HG01915,HG01923,HG02147,HG02278,NA06989,NA07048,NA11843,NA12058,NA18567,NA18982,NA18983,NA18985,NA19000,NA19059,NA19060,NA19062,NA19712,NA19914,NA19916,NA19920 nsv3219507 1 1171580 1193296 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14273648 M 9 1 0 FAM132A,UBE2J2 HG00732 nsv3221992 1 1171580 1232093 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271002,nssv14271003,nssv14271004 M 9 3 0 ACAP3,FAM132A,MIR6726,SCNN1D,UBE2J2 HG00512,HG00731,HG00732 nsv4033071 1 1173971 1174197 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847506 M 10847 0 1 "" nsv5617165 1 1176028 1176028 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060904 M 35 1 0 "" HG00512 nsv5429781 1 1176028 1176080 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893378 M 3202 1 0 "" nsv3319371 1 1176029 1176029 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480029,nssv14481658,nssv14478763 M 14 3 0 "" HG01352,HG02106,NA19240 nsv4750433 1 1176048 1176048 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16268481 M 25 1 0 "" nsv3530300 1 1176055 1176055 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413448 M 9 1 0 "" HG00514 nsv3533763 1 1176057 1176057 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375434 M 9 1 0 "" NA19240 nsv6054079 1 1176059 1176059 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521829 M 405 1 0 "" nsv4039423 1 1178412 1179340 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846222 M 10847 0 1 FAM132A dgv10n106 1 1180000 1180800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1112515,nsv1118088 M 2 0 2 FAM132A KWS1,KWS2 nsv5621716 1 1180074 1180074 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060907 M 35 1 0 FAM132A HG02492 nsv1074016 1 1180099 1180700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769035 M 1 0 1 FAM132A KWP1 nsv5582433 1 1180125 1180213 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060908 M 35 0 1 FAM132A NA18939 nsv6058726 1 1180140 1180140 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536893 M 405 1 0 FAM132A nsv5980900 1 1180145 1180233 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523509 M 405 0 1 FAM132A nsv6056726 1 1180154 1180154 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520729 M 405 1 0 FAM132A nsv6059141 1 1180207 1180207 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529917 M 405 1 0 FAM132A nsv6044329 1 1180255 1180255 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532434 M 405 1 0 FAM132A nsv6050416 1 1180348 1180348 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527928 M 405 1 0 FAM132A nsv5607920 1 1180460 1180460 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060909 M 35 1 0 FAM132A HG02587 nsv6045469 1 1180530 1180530 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527087 M 405 1 0 FAM132A nsv3537580 1 1180538 1180538 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439701,nssv14387315 M 9 2 0 FAM132A HG00733,NA19240 nsv3945230 1 1180538 1180538 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192686 M 1 1 0 FAM132A HG002 nsv5622747 1 1180538 1180538 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060910 M 35 1 0 FAM132A HG00731 nsv3319176 1 1180539 1180539 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490902,nssv14481518,nssv14477349,nssv14480674,nssv14477481,nssv14483572,nssv14474821,nssv14478818,nssv14473607,nssv14479210 M 14 10 0 FAM132A CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02818,HX1,NA19240,NA19434 nsv5623837 1 1180582 1180582 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060911 M 35 1 0 FAM132A NA12329 esv5277 1 1183198 1183861 CNV loss Wang_et_al_2008 18987735 Sequencing essv27718 M 1 0 1 "" YH esv3543010 1 1183399 1183707 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9741757 M 767 0 1 "" esv2668719 1 1183409 1183745 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6211939,essv6121162,essv5712419,essv6185697,essv5669228,essv5601093,essv6105175,essv5885116,essv6346924,essv6260648,essv5434280,essv6509430,essv5689300,essv5585922,essv6179947,essv6503217,essv6313643,essv5560832,essv6331138,essv6391109,essv6407286,essv5398259,essv6493791,essv6086244,essv5640761,essv6595273,essv6477402,essv5940370,essv6063511,essv6117765,essv5983254,essv6139409,essv6063925,essv6153278,essv5492979,essv6583372,essv6293240,essv6468715,essv6342496,essv5677508,essv6348798,essv6581210,essv6201177,essv5770629,essv6455939,essv5848923,essv6329865,essv5916807,essv6588959,essv5581180,essv5717657,essv6327485,essv6133384,essv5668182,essv6261554,essv5749614,essv6196338,essv6510773,essv6422432,essv5549681,essv6266824,essv5605806,essv6414921,essv6131316,essv5748541,essv5507509,essv5861847,essv6427194,essv6527997,essv6433471,essv6161479,essv6307777,essv6240718,essv5465241,essv5720768,essv6419526,essv6339447,essv6574790,essv5910444,essv5418766,essv5954327,essv6230316,essv5892946,essv6355570,essv6585409,essv5999528,essv6519482,essv5650707,essv5763188,essv6151367,essv6010561 M 1151 0 91 "" HG00103,HG00237,HG00260,HG00318,HG00334,HG00337,HG00345,HG00418,HG00421,HG00500,HG00531,HG00534,HG00536,HG00580,HG00584,HG00613,HG00614,HG00620,HG00651,HG00654,HG00656,HG00683,HG00692,HG00698,HG00699,HG00702,HG00704,HG00707,HG00708,HG01072,HG01334,HG01350,NA07357,NA12827,NA18489,NA18498,NA18499,NA18505,NA18530,NA18532,NA18534,NA18536,NA18542,NA18546,NA18549,NA18557,NA18561,NA18562,NA18563,NA18564,NA18566,NA18567,NA18572,NA18592,NA18593,NA18599,NA18605,NA18608,NA18610,NA18612,NA18613,NA18624,NA18635,NA18637,NA18923,NA18940,NA18953,NA18960,NA18977,NA19007,NA19102,NA19197,NA19327,NA19355,NA19359,NA19360,NA19371,NA19383,NA19391,NA19396,NA19397,NA19401,NA19463,NA19625,NA19704,NA19712,NA19786,NA20126,NA20289,NA20758,NA20796 nsv5570408 1 1183434 1183696 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060913 M 35 0 1 "" HG00513 nsv5873365 1 1183434 1183696 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364710 M 914 0 1 "" nsv6319265 1 1183434 1183697 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051399 M 19652 0 1 "" dgv18n152 1 1183434 1183699 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280139,nsv3525094 M 9 0 3 "" HG00513,HG00514,NA19239 nsv5881861 1 1183434 1183894 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352369 M 914 0 1 "" nsv3319604 1 1183435 1183698 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477284,nssv14487394,nssv14488685,nssv14482267,nssv14472509 M 14 0 5 "" HG00514,HG01352,HG02059,HX1,NA19434 nsv4746213 1 1183439 1183702 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289965 M 25 0 1 "" nsv5981035 1 1183440 1183703 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534347 M 405 0 1 "" nsv5424358 1 1183441 1183697 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893461 M 3202 0 1 "" nsv4432932 1 1183442 1183697 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15749205,nssv15747141 M 15 0 2 "" NB07,NB09 nsv4516962 1 1183455 1183697 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847572 M 10847 0 1 "" nsv5980971 1 1183466 1185022 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17522972 M 405 1 0 "" nsv3319372 1 1183598 1183862 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488985 M 14 0 1 "" HG01352 nsv4050945 1 1183822 1183892 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848400 M 10847 0 1 "" nsv6057372 1 1183874 1183874 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519434 M 405 1 0 "" nsv5583766 1 1183954 1184166 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060914 M 35 0 1 "" HG02587 nsv4043960 1 1183956 1184156 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848492 M 10847 0 1 "" nsv3319605 1 1184024 1184089 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485677 M 14 0 1 "" NA19434 nsv6048007 1 1184026 1184026 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525264 M 405 1 0 "" nsv5980901 1 1184143 1184268 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537243 M 405 0 1 "" nsv3319606 1 1184154 1184351 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489388,nssv14477434 M 14 0 2 "" HG00268,HG01352 nsv3064002 1 1184181 1184181 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14016288 M 2 1 0 "" NA12878 esv3337442 1 1184189 1185087 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691758 M 185 1 0 "" NA19240 nsv5569843 1 1184261 1184326 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060916 M 35 0 1 "" NA19239 nsv5578340 1 1184261 1184590 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060915 M 35 0 1 "" HG00513 nsv3319373 1 1184262 1184327 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488393 M 14 0 1 "" NA19240 nsv3187115 1 1184262 1184328 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14402336 M 9 0 0 "" NA19240 nsv3319177 1 1184262 1184591 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474570,nssv14478067,nssv14478520,nssv14475705 M 14 0 4 "" HG00514,HG01352,HG02059,HX1 nsv3280890 1 1184262 1184592 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14430420 M 9 0 1 "" HG00514 nsv5981036 1 1184264 1184523 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527492 M 405 0 1 "" nsv5980819 1 1184282 1184349 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519943 M 405 0 1 "" nsv3319607 1 1184286 1184286 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485781 M 14 1 0 "" NA12878 nsv3319608 1 1184353 1184353 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478140 M 14 1 0 "" HG01352 esv1750792 1 1184373 1184637 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3720664 M 2 0 1 "" HuRef nsv6042870 1 1184416 1184416 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527095 M 405 1 0 "" nsv3930375 1 1184417 1184417 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192692 M 1 1 0 "" HG002 nsv2799733 1 1184418 1184418 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688019 M 2 1 0 "" nsv3533283 1 1184451 1184451 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387824 M 9 1 0 "" NA19240 nsv3181811 1 1184500 1184601 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439702 M 9 0 0 "" HG00733 nsv3319375 1 1184725 1184789 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476105 M 14 0 1 "" HG01352 nsv3056050 1 1184809 1184809 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14026530 M 2 1 0 "" NA12878 nsv5980972 1 1184866 1184983 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527929 M 405 0 1 "" nsv3319820 1 1184904 1184904 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479441 M 14 1 0 "" HG02059 nsv5621045 1 1184924 1184924 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060917 M 35 1 0 "" HG01596 nsv3056051 1 1184927 1184927 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019877 M 2 1 0 "" NA12878 nsv3535172 1 1184933 1184933 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413449 M 9 1 0 "" HG00514 nsv5980902 1 1184948 1185015 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527485 M 405 0 1 "" nsv6056727 1 1184949 1184949 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521500 M 405 1 0 "" nsv3179144 1 1184949 1185013 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383941 M 9 0 0 "" NA19240 nsv3533746 1 1184976 1184976 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381356 M 9 1 0 "" NA19240 nsv3319821 1 1184991 1184991 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472102,nssv14480633 M 14 2 0 "" HG02059,HG02818 nsv4032504 1 1186757 1219559 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966214 M 10847 1 0 SCNN1D,UBE2J2 nsv4459208 1 1189291 1189292 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024756 M 10847 1 0 "" nsv6048597 1 1191391 1191391 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529828 M 405 1 0 UBE2J2 nsv817616 1 1192515 1242084 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417737 M 112 0 1 ACAP3,MIR6726,SCNN1D,UBE2J2 NA19003 nsv4043953 1 1192727 1197605 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966220 M 10847 1 0 UBE2J2 nsv3220987 1 1194856 1232093 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14272294,nssv14272292,nssv14272293 M 9 3 0 ACAP3,MIR6726,SCNN1D,UBE2J2 HG00513,HG00514,HG00733 esv2758912 1 1199320 1319872 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757716 M 270 0 1 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6726,MIR6727,MIR6808,MXRA8,PUSL1,SCNN1D,TAS1R3,UBE2J2 NA18991 nsv3540606 1 1199725 1199725 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439703 M 9 1 0 UBE2J2 HG00733 nsv5827640 1 1200090 1219245 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463851 M 914 0 0 SCNN1D,UBE2J2 nsv5881509 1 1200171 1482099 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17367898 M 914 1 0 ACAP3,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,MIR6726,MIR6727,MIR6808,MRPL20,MXRA8,PUSL1,SCNN1D,SSU72,TAS1R3,TMEM240,TMEM88B,UBE2J2,VWA1 nsv4039519 1 1202082 1202153 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848238 M 10847 0 1 UBE2J2 nsv5569351 1 1204479 1204554 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060359 M 35 0 1 UBE2J2 HG03125 nsv5583789 1 1204479 1204633 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060924 M 35 0 1 UBE2J2 NA19238 nsv3281282 1 1204479 1204634 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14403104 M 9 0 1 UBE2J2 NA19240 nsv3319379 1 1204480 1204634 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477730,nssv14474139 M 14 0 2 UBE2J2 NA19240,NA19434 nsv5981037 1 1204508 1204591 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520629 M 405 0 1 UBE2J2 esv3656519 1 1204552 1204633 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16480071 M 20 0 0 UBE2J2 nsv4458911 1 1205588 1205589 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023686 M 10847 1 0 UBE2J2 nsv5690131 1 1205603 1205603 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17227838 M 3202 1 0 UBE2J2 nsv5412213 1 1205603 1205654 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893463 M 3202 1 0 UBE2J2 nsv1074020 1 1208999 1209800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772835 M 1 0 1 UBE2J2 KWP1 nsv1118089 1 1209000 1209700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980307 M 2 0 1 UBE2J2 KWS1 nsv6316155 1 1209419 1231320 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199338 M 19652 1 0 ACAP3,SCNN1D nsv4043893 1 1209419 1231322 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966234 M 10847 1 0 ACAP3,SCNN1D nsv5877653 1 1214510 1214591 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352915 M 914 0 1 "" nsv6320640 1 1214866 1218157 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051440 M 19652 0 1 SCNN1D nsv5878825 1 1215428 1215565 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350853 M 914 0 1 "" nsv3319183 1 1215961 1215961 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473786 M 14 1 0 SCNN1D NA12878 nsv6327953 1 1216698 1218708 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051452 M 19652 0 1 SCNN1D nsv4049654 1 1216702 1218708 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848329 M 10847 0 1 SCNN1D nsv1000169 1 1217058 1297734 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464101 M 11257 1 0 ACAP3,CPSF3L,DVL1,GLTPD1,MIR6726,MIR6727,MIR6808,MXRA8,PUSL1,SCNN1D,TAS1R3 nsv5882764 1 1218032 1218084 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365089 M 914 0 1 SCNN1D nsv1160788 1 1218086 1311716 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026656 M 369 0 1 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6726,MIR6727,MIR6808,MXRA8,PUSL1,SCNN1D,TAS1R3 nsv1118090 1 1219400 1219800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980308 M 2 0 1 SCNN1D KWS1 esv3408806 1 1219431 1219821 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652039 M 185 1 0 SCNN1D NA19240 nsv4756868 1 1219491 1219491 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16296367 M 25 1 0 SCNN1D nsv5618117 1 1219527 1219527 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060373 M 35 1 0 SCNN1D HG00513 nsv4533016 1 1219530 1219531 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024866 M 10847 1 0 SCNN1D nsv3540347 1 1219533 1219533 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373958 M 9 1 0 SCNN1D NA19240 nsv2800992 1 1219546 1219546 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682176 M 2 1 0 SCNN1D nsv3319611 1 1219546 1219546 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487405,nssv14472687,nssv14484605,nssv14490403,nssv14483409,nssv14473172,nssv14485883 M 14 7 0 SCNN1D CHM1,CHM13,HG00733,HG02059,HG02106,NA12878,NA19434 nsv3539336 1 1219546 1219546 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439704 M 9 1 0 SCNN1D HG00733 nsv3933471 1 1219551 1219551 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192722 M 1 1 0 SCNN1D HG002 nsv5619995 1 1219551 1219551 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060374,nssv17060375 M 35 2 0 SCNN1D HG00731,HG00732 nsv2800993 1 1219552 1219552 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679621 M 2 1 0 SCNN1D nsv3536353 1 1219552 1219552 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382131 M 9 1 0 SCNN1D NA19240 nsv5623234 1 1219567 1219567 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060376 M 35 1 0 SCNN1D HG02587 nsv3530175 1 1219573 1219573 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413451 M 9 1 0 SCNN1D HG00514 nsv3530492 1 1219574 1219574 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413452 M 9 1 0 SCNN1D HG00514 nsv6044860 1 1219582 1219582 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536734 M 405 1 0 SCNN1D nsv5570477 1 1219899 1219954 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060377 M 35 0 1 SCNN1D NA20509 nsv5873257 1 1219899 1219954 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356427 M 914 0 1 SCNN1D nsv6040677 1 1219918 1219918 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534965 M 405 1 0 SCNN1D nsv5608720 1 1219955 1219955 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060378 M 35 1 0 SCNN1D HG03125 nsv5876892 1 1221765 1221853 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366424 M 914 0 1 SCNN1D nsv3539670 1 1222269 1222269 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413453,nssv14376301 M 9 2 0 SCNN1D HG00514,NA19240 nsv3229837 1 1222269 1227215 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14270159 M 9 1 0 SCNN1D NA19240 nsv4045190 1 1222300 1223266 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846332 M 10847 0 1 SCNN1D dgv19n152 1 1222703 1226545 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3177480,nsv3175222 M 9 0 0 SCNN1D HG00733,NA19240 nsv3200203 1 1222874 1224699 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14348010,nssv14348013,nssv14348014,nssv14348011,nssv14348012,nssv14348017,nssv14348016,nssv14348015,nssv14348009 M 9 0 0 SCNN1D HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4041039 1 1223412 1223474 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15960562 M 10847 1 0 SCNN1D nsv6052598 1 1223450 1223450 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525009 M 405 1 0 SCNN1D dgv5n166 1 1223474 1224050 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4037457,nsv4516648 M 10847 0 2 SCNN1D nsv4035428 1 1223522 1223602 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15960571 M 10847 1 0 SCNN1D esv25372 1 1223559 1225694 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv20786 M 40 2 14 SCNN1D NA12004,NA12006,NA12044,NA12287,NA12414,NA12878,NA15510,NA18505,NA18508,NA18511,NA18907,NA18909,NA18916,NA19099,NA19129,NA19257 dgv6n166 1 1223561 1223680 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4518071,nsv4033558 M 10847 2 0 SCNN1D esv2106414 1 1223568 1225749 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4728356 M 1 0 1 SCNN1D NA18507 nsv5981040 1 1223580 1225593 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17519804 M 405 1 0 SCNN1D nsv499366 1 1223580 1225633 CNV gain Kidd_et_al_2010b 21111241 Sequencing nssv585600 M 9 1 0 SCNN1D dgv1e199 1 1223581 1225588 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2677875,esv2668981 M 1151 0 33 SCNN1D HG00136,HG00442,HG00501,HG00543,HG00581,HG00613,HG01055,HG01060,HG01079,HG01198,HG01342,NA11994,NA18523,NA18632,NA18853,NA18870,NA19056,NA19088,NA19213,NA19257,NA19346,NA19398,NA19439,NA19448,NA19451,NA19452,NA19462,NA19625,NA19722,NA19834,NA20332,NA20542,NA20586 nsv5886491 1 1223584 1225582 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360114 M 914 0 1 SCNN1D nsv6042009 1 1223588 1223588 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536367 M 405 1 0 SCNN1D nsv6137965 1 1223590 1223676 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893485 M 3202 1 0 SCNN1D nsv4742903 1 1223592 1224031 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16291365 M 25 0 1 SCNN1D nsv5980976 1 1223599 1223753 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536861 M 405 0 1 SCNN1D nsv3319383 1 1223605 1224328 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488355 M 14 0 1 SCNN1D NA12878 esv3659330 1 1223606 1223773 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465231 M 20 0 1 SCNN1D nsv6138695 1 1223620 1223681 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683781 M 3202 1 0 SCNN1D nsv3319185 1 1223621 1223621 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481206,nssv14473586 M 14 2 0 SCNN1D HG02059,NA19434 nsv544966 1 1223621 1225559 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708527 M 17421 1 0 SCNN1D nsv6048241 1 1223623 1223623 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525407 M 405 1 0 SCNN1D nsv6059844 1 1223625 1223625 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527526 M 405 1 0 SCNN1D esv3545232 1 1223634 1225435 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9743979 M 767 0 1 SCNN1D nsv5573324 1 1223642 1223899 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060385 M 35 0 1 SCNN1D NA19239 esv1004967 1 1223644 1225609 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586753 M 3 1 0 SCNN1D HuRef nsv5981041 1 1223659 1224662 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522642 M 405 0 1 SCNN1D nsv3943130 1 1223680 1223753 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181987 M 1 0 1 SCNN1D HG002 nsv3319186 1 1223682 1223787 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491219 M 14 0 1 SCNN1D HG00268 nsv3319612 1 1223721 1223721 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478279,nssv14478225 M 14 2 0 SCNN1D HG02059,NA19434 nsv5578742 1 1223725 1224566 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060386 M 35 0 1 SCNN1D NA24385 nsv6059704 1 1223726 1223726 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523195 M 405 1 0 SCNN1D nsv2800759 1 1223808 1223808 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688449 M 2 1 0 SCNN1D nsv3319187 1 1223808 1223808 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491561,nssv14477422,nssv14477417 M 14 3 0 SCNN1D CHM13,HG02059,NA19434 nsv2800111 1 1223847 1223847 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681871 M 2 1 0 SCNN1D nsv3319188 1 1223847 1223847 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491952 M 14 1 0 SCNN1D CHM13 nsv511671 1 1223858 1225621 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626308 M 1 0 1 SCNN1D 1 nsv4045971 1 1223878 1224700 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15960599 M 10847 1 0 SCNN1D nsv2800994 1 1223900 1223900 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680738 M 2 1 0 SCNN1D nsv3319825 1 1223900 1223900 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488055,nssv14482360 M 14 2 0 SCNN1D CHM13,NA19434 nsv3319613 1 1223930 1223930 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490463 M 14 1 0 SCNN1D CHM13 nsv6138490 1 1223938 1224028 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893537 M 3202 1 0 SCNN1D esv1653789 1 1223947 1224229 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3908676 M 2 0 1 SCNN1D HuRef nsv5605596 1 1223949 1223949 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060388 M 35 1 0 SCNN1D HG00731 nsv5574717 1 1223949 1224340 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060387 M 35 0 1 SCNN1D HG00731 nsv3319384 1 1223950 1223950 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489076 M 14 1 0 SCNN1D HG02059 nsv6058296 1 1223976 1223976 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533656,nssv17526019 M 405 2 0 SCNN1D nsv3319615 1 1223987 1223987 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474234 M 14 1 0 SCNN1D CHM13 nsv6138117 1 1223987 1224046 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893538 M 3202 1 0 SCNN1D nsv2800995 1 1224008 1224008 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686209 M 2 1 0 SCNN1D nsv3319616 1 1224008 1224008 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489526 M 14 1 0 SCNN1D CHM13 nsv5612169 1 1224043 1224043 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060389 M 35 1 0 SCNN1D HG03486 nsv5980911 1 1224052 1225388 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529278 M 405 0 1 SCNN1D nsv2800760 1 1224053 1224053 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682975 M 2 1 0 SCNN1D nsv3319189 1 1224053 1224053 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482205 M 14 1 0 SCNN1D CHM13 nsv5575244 1 1224066 1224197 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060390 M 35 0 1 SCNN1D HG02818 nsv2800457 1 1224091 1224091 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695049 M 2 1 0 SCNN1D nsv3319190 1 1224091 1224091 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479247,nssv14481253 M 14 2 0 SCNN1D CHM1,HG02059 nsv5981136 1 1224108 1224203 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524860 M 405 0 1 SCNN1D nsv3319617 1 1224131 1224188 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486393 M 14 0 1 SCNN1D HG02059 nsv6044804 1 1224140 1224140 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536342 M 405 1 0 SCNN1D nsv2800761 1 1224174 1224174 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695339 M 2 1 0 SCNN1D nsv3319191 1 1224174 1224174 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480578 M 14 1 0 SCNN1D CHM13 nsv3319826 1 1224212 1224212 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481951 M 14 1 0 SCNN1D NA19434 nsv6057763 1 1224235 1224235 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518422 M 405 1 0 SCNN1D nsv3319618 1 1224239 1224239 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488480,nssv14475139 M 14 2 0 SCNN1D CHM13,HG02059 nsv2800458 1 1224256 1224256 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683764 M 2 1 0 SCNN1D esv1027332 1 1224273 1225316 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4148647 M 2 0 1 SCNN1D HuRef nsv2800996 1 1224293 1224293 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690551 M 2 1 0 SCNN1D nsv3319619 1 1224305 1224305 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491296 M 14 1 0 SCNN1D HG00733 nsv2800459 1 1224359 1224359 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685408 M 2 1 0 SCNN1D nsv3319620 1 1224387 1224387 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472113,nssv14482260 M 14 2 0 SCNN1D CHM13,HG00733 nsv5618206 1 1224415 1224415 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060392 M 35 1 0 SCNN1D HG00731 nsv3319827 1 1224447 1224505 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472726 M 14 0 1 SCNN1D HG02059 nsv6053786 1 1224449 1224449 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532113 M 405 1 0 SCNN1D nsv3319828 1 1224474 1224474 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482354,nssv14487865,nssv14473559,nssv14476312 M 14 4 0 SCNN1D CHM13,HG00268,HG02059,NA19434 nsv3319385 1 1224501 1224501 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481670,nssv14479801,nssv14478719,nssv14489662 M 14 4 0 SCNN1D CHM13,HG00268,HG02059,NA19434 nsv2800762 1 1224524 1224524 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692819 M 2 1 0 SCNN1D nsv3319621 1 1224548 1224548 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481885 M 14 1 0 SCNN1D HG02059 nsv5614060 1 1224567 1224567 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060393 M 35 1 0 SCNN1D NA24385 nsv2800460 1 1224568 1224568 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680799 M 2 1 0 SCNN1D nsv3319622 1 1224568 1224568 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488929,nssv14479815 M 14 2 0 SCNN1D CHM1,CHM13 nsv5981042 1 1224598 1224654 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522179 M 405 0 1 SCNN1D nsv2800763 1 1224600 1224600 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682522 M 2 1 0 SCNN1D nsv3319623 1 1224600 1224600 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485960,nssv14473494 M 14 2 0 SCNN1D CHM13,HG00733 nsv6058942 1 1224601 1224601 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523482 M 405 1 0 SCNN1D nsv5622534 1 1224605 1224605 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060394 M 35 1 0 SCNN1D HG00731 nsv3319386 1 1224606 1224606 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491475 M 14 1 0 SCNN1D HG02059 nsv3319387 1 1224634 1224711 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474887 M 14 0 1 SCNN1D HG00268 nsv3319388 1 1224662 1224662 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481082 M 14 1 0 SCNN1D HG02059 nsv2800461 1 1224694 1224694 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681400 M 2 1 0 SCNN1D nsv3319192 1 1224706 1224706 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475476,nssv14475422 M 14 2 0 SCNN1D CHM13,HG02059 nsv2800997 1 1224738 1224738 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693912 M 2 1 0 SCNN1D nsv3319829 1 1224738 1224738 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488551,nssv14473459,nssv14485255 M 14 3 0 SCNN1D CHM1,CHM13,HG02059 nsv5612212 1 1224775 1224775 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060396 M 35 1 0 SCNN1D HG00171 nsv2800764 1 1224781 1224781 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681526 M 2 1 0 SCNN1D nsv3319389 1 1224781 1224781 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478421 M 14 1 0 SCNN1D CHM1 nsv6053609 1 1224813 1224813 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534966 M 405 1 0 SCNN1D nsv2800112 1 1224814 1224814 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13696153 M 2 1 0 SCNN1D nsv3319193 1 1224845 1224845 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489465 M 14 1 0 SCNN1D HG02059 nsv3319830 1 1224850 1224957 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490027 M 14 0 1 SCNN1D HG02059 nsv5612228 1 1224851 1224851 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060397 M 35 1 0 SCNN1D HG00171 nsv2800765 1 1224896 1224896 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695672 M 2 1 0 SCNN1D nsv5981137 1 1224898 1224953 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518411 M 405 0 1 SCNN1D nsv5581279 1 1224898 1225424 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060398 M 35 0 1 SCNN1D HG00732 nsv3319194 1 1224902 1224902 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475642,nssv14490247 M 14 2 0 SCNN1D CHM13,HG02059 nsv2800462 1 1224920 1224920 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687351 M 2 1 0 SCNN1D nsv3319831 1 1224920 1224920 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474096,nssv14489913 M 14 2 0 SCNN1D CHM1,NA19434 nsv3319626 1 1224942 1224942 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490683,nssv14484536 M 14 2 0 SCNN1D CHM13,HG02059 nsv6053353 1 1224949 1224949 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533573 M 405 1 0 SCNN1D nsv2800998 1 1224992 1224992 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692154 M 2 1 0 SCNN1D nsv3319627 1 1225014 1225014 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485360 M 14 1 0 SCNN1D HG02059 nsv2800766 1 1225023 1225023 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677974 M 2 1 0 SCNN1D nsv3319628 1 1225023 1225023 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491216,nssv14489179 M 14 2 0 SCNN1D CHM13,HG02059 nsv3319195 1 1225041 1225041 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488910 M 14 1 0 SCNN1D HG02059 nsv3319832 1 1225050 1225109 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478206,nssv14480609 M 14 0 2 SCNN1D HG02059,HG02106 nsv5580865 1 1225089 1225325 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060029 M 35 0 1 SCNN1D NA24385 nsv2800999 1 1225097 1225097 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682395 M 2 1 0 SCNN1D nsv6139027 1 1225126 1225224 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894840 M 3202 1 0 SCNN1D nsv6042052 1 1225127 1225127 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531136 M 405 1 0 SCNN1D nsv3319390 1 1225164 1225214 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486531 M 14 0 1 SCNN1D HG02059 nsv5617009 1 1225165 1225165 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060452 M 35 1 0 SCNN1D NA19238 nsv5578292 1 1225165 1225251 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060451 M 35 0 1 SCNN1D HG03065 nsv3319833 1 1225166 1225166 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476885 M 14 1 0 SCNN1D NA19434 nsv5981043 1 1225194 1225276 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530512 M 405 0 1 SCNN1D nsv2800767 1 1225218 1225218 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683064 M 2 1 0 SCNN1D nsv5607791 1 1225227 1225227 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060453 M 35 1 0 SCNN1D HG00731 nsv6055579 1 1225243 1225243 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519032 M 405 1 0 SCNN1D nsv5980822 1 1225325 1225443 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534663 M 405 0 1 SCNN1D nsv6042858 1 1225327 1225327 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532997 M 405 1 0 SCNN1D nsv3319834 1 1225347 1225347 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489084,nssv14479513 M 14 2 0 SCNN1D HG02059,NA19434 nsv5606481 1 1225352 1225352 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060454 M 35 1 0 SCNN1D HG00512 nsv3319630 1 1225370 1225423 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475882,nssv14473190 M 14 0 2 SCNN1D HG02059,HG02106 esv1323061 1 1225406 1225406 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3960677 M 2 1 0 SCNN1D HuRef nsv3319631 1 1225425 1225425 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476812,nssv14486209,nssv14483011 M 14 3 0 SCNN1D HG00268,HG00733,HG02059 nsv6048113 1 1225439 1225439 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518882 M 405 1 0 SCNN1D nsv2800463 1 1225462 1225462 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691615 M 2 1 0 SCNN1D nsv3319835 1 1225462 1225462 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481225,nssv14487563,nssv14489300,nssv14484638 M 14 4 0 SCNN1D CHM1,HG00268,HG02059,NA19434 nsv5567677 1 1225497 1225552 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060455 M 35 0 1 SCNN1D HG03009 nsv5980977 1 1225505 1225576 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536277 M 405 0 1 SCNN1D nsv6052319 1 1225509 1225509 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523090 M 405 1 0 SCNN1D nsv5617005 1 1225517 1225517 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060456 M 35 1 0 SCNN1D HG03732 nsv3319197 1 1225553 1225553 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482027 M 14 1 0 SCNN1D NA19434 nsv5621957 1 1225553 1225553 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060399 M 35 1 0 SCNN1D HG00513 nsv5610050 1 1225562 1225562 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060400 M 35 1 0 SCNN1D HG00731 nsv3319836 1 1225563 1225563 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486870 M 14 1 0 SCNN1D HG02059 nsv3319632 1 1225570 1225570 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491851 M 14 1 0 SCNN1D HG00733 nsv3319837 1 1225594 1225594 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475760 M 14 1 0 SCNN1D HG02059 dgv25n54 1 1226063 1241746 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544970,nsv544968,nsv544967 M 17421 0 3 ACAP3,MIR6726,SCNN1D nsv544969 1 1226063 1309977 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708530 M 17421 0 1 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6726,MIR6727,MIR6808,MXRA8,PUSL1,SCNN1D,TAS1R3 nsv5605988 1 1229111 1229111 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060402 M 35 1 0 ACAP3 HG03683 nsv160950 1 1229112 1229112 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179528 M 24 ACAP3 nsv4767323 1 1229122 1229122 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16290623 M 25 1 0 ACAP3 nsv6044449 1 1229164 1229164 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533002 M 405 1 0 ACAP3 nsv544971 1 1229443 1286806 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708532 M 17421 0 1 ACAP3,CPSF3L,DVL1,GLTPD1,MIR6726,MIR6727,MIR6808,PUSL1,TAS1R3 nsv5827761 1 1229546 1232345 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465869 M 914 0 0 ACAP3,MIR6726 nsv5609398 1 1231712 1231712 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060403 M 35 1 0 ACAP3 HG02818 nsv5884312 1 1232171 1232232 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369586 M 914 0 1 ACAP3 nsv3319633 1 1232172 1232233 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483061 M 14 0 1 ACAP3 HG00268 nsv6138186 1 1232204 1232759 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894842 M 3202 0 1 ACAP3 nsv4742027 1 1232434 1232939 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281151 M 25 0 1 ACAP3 esv3050 1 1232448 1233224 CNV loss Wang_et_al_2008 18987735 Sequencing essv25491 M 1 0 1 ACAP3 YH esv3662985 1 1232497 1232996 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465560 M 20 0 1 ACAP3 nsv3319634 1 1232498 1232770 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489040,nssv14477748 M 14 0 2 ACAP3 HG00268,NA19434 nsv5567059 1 1232521 1232654 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060404 M 35 0 1 ACAP3 HG00732 nsv5869237 1 1232521 1232700 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356918 M 914 0 1 ACAP3 dgv2n172 1 1232530 1233127 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4432935,nsv4432937,nsv4432940,nsv4432938,nsv4432936,nsv4432939 M 15 0 6 ACAP3 BTQ016,MDQ010,MDQ025,SMI018,SMI034,SMI041 nsv6137981 1 1232537 1232769 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894899 M 3202 0 1 ACAP3 nsv5583325 1 1232573 1233068 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060405 M 35 0 1 ACAP3 HG00512 nsv3319198 1 1232595 1233086 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483550,nssv14475856,nssv14480915,nssv14476894 M 14 0 4 ACAP3 HG00514,HG02059,HG02106,NA19434 nsv3280212 1 1232638 1233088 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14405570,nssv14431095 M 9 0 2 ACAP3 HG00514,NA19240 nsv4432941 1 1232718 1233097 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15754604 M 15 0 1 ACAP3 NB10 nsv5980823 1 1232754 1233119 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530033 M 405 0 1 ACAP3 nsv3319391 1 1232760 1232893 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481169 M 14 0 1 ACAP3 HX1 nsv6138364 1 1232763 1233132 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894944 M 3202 0 1 ACAP3 nsv3319199 1 1232863 1233086 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484363,nssv14472383 M 14 0 2 ACAP3 HG00268,NA19434 nsv5868523 1 1232954 1233131 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363437 M 914 0 1 ACAP3 nsv5577074 1 1232999 1233130 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060406 M 35 0 1 ACAP3 HG00732 nsv5827651 1 1233855 1250639 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458364 M 914 0 0 ACAP3,CPSF3L,MIR6727,PUSL1 nsv5870872 1 1234328 1234539 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367633 M 914 0 1 ACAP3 dgv6n100 1 1237130 1297734 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006409,nsv1007042 M 11257 3 22 ACAP3,CPSF3L,DVL1,GLTPD1,MIR6727,MIR6808,MXRA8,PUSL1,TAS1R3 nsv3530834 1 1238972 1238972 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439705 M 9 1 0 ACAP3 HG00733 nsv3561564 1 1238973 1238973 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14350888,nssv14350890,nssv14350891,nssv14350887,nssv14350886,nssv14350889 M 9 6 0 ACAP3 HG00512,HG00513,HG00732,HG00733,NA19239,NA19240 nsv1133121 1 1238973 1239037 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987938 M 2 1 0 ACAP3 KWS1 esv3667096 1 1238994 1239056 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465930 M 20 0 1 ACAP3 nsv4051232 1 1239000 1249150 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963105 M 10847 1 0 ACAP3,CPSF3L,MIR6727,PUSL1 nsv1119655 1 1239010 1239071 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982099 M 2 0 1 ACAP3 KWS1 nsv1140724 1 1239073 1239204 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992231 M 2 0 1 ACAP3 KWS1 nsv6138979 1 1239368 1279380 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894950 M 3202 1 0 ACAP3,CPSF3L,DVL1,GLTPD1,MIR6727,MIR6808,PUSL1,TAS1R3 esv3890636 1 1239935 1288583 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25780752 M 3017 0 1 ACAP3,CPSF3L,DVL1,GLTPD1,MIR6727,MIR6808,MXRA8,PUSL1,TAS1R3 nsv4047535 1 1240709 1240791 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847955 M 10847 0 1 ACAP3 nsv5428946 1 1240709 1240791 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683831 M 3202 0 1 ACAP3 nsv997291 1 1242215 1311716 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463548 M 11257 1 0 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6727,MIR6808,MXRA8,PUSL1,TAS1R3 dgv7n100 1 1242215 1314437 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998999,nsv1008000 M 11257 0 2 ACAP3,AURKAIP1,CPSF3L,DVL1,GLTPD1,MIR6727,MIR6808,MXRA8,PUSL1,TAS1R3 nsv1009541 1 1242215 1453590 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696754 M 11257 1 0 ACAP3,ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,CCNL2,CPSF3L,DVL1,GLTPD1,LOC148413,MIR6727,MIR6808,MRPL20,MXRA8,PUSL1,TAS1R3,TMEM88B,VWA1 nsv1074967 1 1243099 1243500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771481 M 1 0 1 ACAP3 KWP1 nsv1118091 1 1243100 1243400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980309 M 2 0 1 ACAP3 KWS1 nsv5981139 1 1243352 1243404 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536754 M 405 0 1 "" nsv5610548 1 1246172 1246172 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060412 M 35 1 0 PUSL1 HG00732 nsv5953712 1 1246172 1246172 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361078 M 914 1 0 PUSL1 nsv3319202 1 1246173 1246173 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477981 M 14 1 0 PUSL1 HG01352 nsv5427313 1 1246195 1246273 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895033 M 3202 0 1 PUSL1 nsv5872835 1 1246204 1246272 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355598 M 914 0 1 PUSL1 esv3671686 1 1246204 1246274 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16466343 M 20 0 1 PUSL1 nsv5535387 1 1246221 1246221 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895054 M 3202 1 0 PUSL1 esv3584992 1 1249799 1265722 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840606,essv9840607 M 2504 2 0 CPSF3L,GLTPD1 HG01631,NA19189 esv3366182 1 1250989 1251287 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691772 M 185 1 0 CPSF3L NA19238 nsv5415351 1 1251320 1251392 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895767 M 3202 1 0 CPSF3L nsv6332373 1 1252014 1252572 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051470 M 19652 0 1 CPSF3L esv3547454 1 1252191 1252529 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9746201 M 767 0 1 CPSF3L nsv5886900 1 1252214 1252512 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354792 M 914 0 1 CPSF3L nsv5428281 1 1252214 1252515 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895781 M 3202 0 1 CPSF3L nsv4044404 1 1252214 1252645 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849110 M 10847 0 1 CPSF3L nsv5827968 1 1252443 1257489 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453810 M 914 0 0 CPSF3L nsv5534124 1 1252596 1252646 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895782 M 3202 1 0 CPSF3L nsv476469 1 1252776 1252776 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019423 M 9 1 0 CPSF3L NA12878 nsv544972 1 1256552 1273116 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708533 M 17421 0 1 CPSF3L,DVL1,GLTPD1,TAS1R3 dgv26n54 1 1256552 1286806 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544973,nsv544974,nsv544976,nsv544975 M 17421 0 4 CPSF3L,DVL1,GLTPD1,MIR6808,TAS1R3 nsv6320784 1 1257086 1258511 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051471 M 19652 0 1 CPSF3L nsv1130939 1 1257800 1258200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967637 M 2 0 1 CPSF3L KWS2 esv3662269 1 1258960 1258960 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485246 M 20 1 0 CPSF3L nsv1074436 1 1259099 1259700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763744 M 1 0 1 CPSF3L KWP1 nsv1118092 1 1259200 1259700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980310 M 2 0 1 CPSF3L KWS1 nsv5884125 1 1259246 1259454 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364310 M 914 0 1 CPSF3L nsv5613460 1 1259299 1259299 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060436 M 35 1 0 CPSF3L NA19983 nsv4760051 1 1259505 1259505 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16296779 M 25 1 0 CPSF3L nsv3319637 1 1259527 1259527 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478378,nssv14491311,nssv14485993,nssv14491920 M 14 4 0 CPSF3L HG00514,HG00733,HG02106,NA12878 nsv3542160 1 1259535 1259535 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439706 M 9 1 0 CPSF3L HG00733 nsv5613149 1 1259552 1259552 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060441,nssv17060440 M 35 2 0 CPSF3L HG00731,HG00732 nsv6049273 1 1259552 1259552 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534014 M 405 1 0 CPSF3L nsv3936508 1 1259560 1259560 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192755 M 1 1 0 CPSF3L HG002 nsv4534237 1 1260142 1260143 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024356 M 10847 1 0 "" nsv6048969 1 1260158 1260158 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525836 M 405 1 0 GLTPD1 nsv5542545 1 1260169 1260181 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683837 M 3202 1 0 GLTPD1 nsv5827655 1 1260497 1268305 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451743 M 914 0 0 GLTPD1,TAS1R3 nsv3115107 1 1261492 1276688 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14096525 M 467 0 1 DVL1,GLTPD1,MIR6808,TAS1R3 sample363 nsv3216605 1 1264127 1367891 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259304,nssv14259301,nssv14259302,nssv14259303 M 9 4 0 ANKRD65,AURKAIP1,CCNL2,DVL1,GLTPD1,LOC148413,MIR6808,MRPL20,MXRA8,TAS1R3,TMEM88B HG00513,HG00732,NA19238,NA19239 nsv4038031 1 1265350 1265403 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849754 M 10847 0 1 "" nsv5877135 1 1265354 1265529 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354210 M 914 0 1 "" nsv4032525 1 1265435 1265566 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848028 M 10847 0 1 "" nsv544977 1 1269986 1287127 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708538,nssv708539 M 17421 1 1 DVL1,MIR6808 dgv27n54 1 1273116 1288823 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544979,nsv544978 M 17421 3 0 DVL1,MIR6808,MXRA8 nsv5606890 1 1275264 1275264 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060466 M 35 1 0 DVL1 NA19238 nsv5871540 1 1275264 1275341 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17365166 M 914 1 0 DVL1 nsv5828288 1 1275463 1284359 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464008 M 914 0 0 DVL1 dgv28n54 1 1276077 1295403 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544980,nsv544981 M 17421 2 0 DVL1,MXRA8 dgv29n54 1 1276410 1287127 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544982,nsv544990,nsv544983,nsv544989,nsv544988,nsv544987 M 17421 0 8 DVL1 dgv30n54 1 1276410 1288823 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544984,nsv544985,nsv544986 M 17421 6 0 DVL1,MXRA8 nsv5425156 1 1276870 1276938 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683838 M 3202 0 1 DVL1 nsv544991 1 1277533 1296153 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708559 M 17421 0 1 DVL1,MXRA8 nsv5870204 1 1278247 1278343 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353815 M 914 0 1 DVL1 nsv5431935 1 1280150 1281653 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896389 M 3202 1 0 DVL1 nsv3200233 1 1283441 1291504 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267374,nssv14267377,nssv14267378,nssv14267376,nssv14267373,nssv14267375 M 9 0 6 DVL1,MXRA8 HG00512,HG00514,HG00731,HG00733,NA19238,NA19240 dgv11n106 1 1283900 1286700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1143427,nsv1121739 M 2 0 2 DVL1 KWS1,KWS2 nsv1074439 1 1284199 1286700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769368 M 1 0 1 DVL1 KWP1 nsv5611328 1 1285154 1285154 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060471 M 35 1 0 "" HG03009 nsv511672 1 1285180 1286870 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626309 M 1 0 1 "" 1 nsv5579195 1 1285354 1286433 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060472 M 35 0 1 "" HG00731 dgv4n209 1 1285354 1286793 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5887176,nsv5885652,nsv5867812 M 914 0 3 "" nsv2800769 1 1285355 1286034 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13691052 M 2 0 1 "" nsv3319641 1 1285355 1286034 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473588,nssv14476999,nssv14485226,nssv14484435,nssv14489015,nssv14473371,nssv14479795,nssv14474619,nssv14484986,nssv14485392,nssv14472431,nssv14485893 M 14 0 12 "" CHM1,CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 dgv20n152 1 1285357 1285686 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282457,nsv3282744 M 9 0 2 "" HG00514,NA19240 nsv4735051 1 1285359 1286440 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279944 M 25 0 1 "" nsv3279839 1 1285366 1286046 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14457356 M 9 0 1 "" HG00733 nsv5572006 1 1285369 1285487 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060473 M 35 0 1 "" HG03009 nsv5620852 1 1285381 1285381 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060474 M 35 1 0 "" NA19983 nsv3052045 1 1285395 1285769 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14032154 M 2 0 1 "" NA12878 esv23965 1 1285400 1286900 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv19242 M 40 16 0 "" NA06985,NA12239,NA12414,NA15510,NA18502,NA18505,NA18508,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129 esv988609 1 1285400 1286900 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586390 M 3 0 1 "" HuRef nsv4449250 1 1285401 1286800 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15757512 M 1 0 1 "" dgv21n152 1 1285414 1286795 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3203838,nsv3199132 M 9 0 9 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv2800114 1 1285427 1286426 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13693883 M 2 0 1 "" dgv31n54 1 1285430 1286447 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544993,nsv544992 M 17421 0 2 "" dgv32n54 1 1285430 1287127 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544995,nsv544994 M 17421 10 5 "" nsv544996 1 1285430 1288823 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708578,nssv708577,nssv708579,nssv708580 M 17421 4 0 MXRA8 nsv3951672 1 1285500 1286580 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182018 M 1 0 1 "" HG002 nsv5980983 1 1285529 1286605 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524760 M 405 0 1 "" nsv6048325 1 1285535 1285535 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532316 M 405 1 0 "" nsv6046519 1 1285686 1285686 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531069 M 405 1 0 "" nsv5981150 1 1285714 1285794 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533591 M 405 0 1 "" nsv3282302 1 1285757 1286238 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14430961 M 9 0 1 "" HG00514 nsv6055852 1 1285826 1285826 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536614 M 405 1 0 "" nsv5981151 1 1285861 1286089 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522378 M 405 0 1 "" nsv4043616 1 1285913 1286794 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848677 M 10847 0 1 "" nsv3281526 1 1285916 1286796 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14403551 M 9 0 1 "" NA19240 nsv6041143 1 1285922 1285922 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521842 M 405 1 0 "" nsv544997 1 1285953 1286747 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708581 M 17421 0 1 "" nsv6048387 1 1285978 1285978 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523939 M 405 1 0 "" dgv33n54 1 1286009 1289761 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv544999,nsv544998 M 17421 0 2 MXRA8 nsv3281311 1 1286192 1286312 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14466482 M 9 0 1 "" HG00733 nsv3319642 1 1286195 1286315 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472974,nssv14478836 M 14 0 2 "" HG01352,HG02059 nsv3052078 1 1286195 1286316 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14024109 M 2 0 1 "" NA12878 nsv5981152 1 1286207 1286605 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526755 M 405 0 1 "" nsv2800466 1 1286307 1286546 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13682137 M 2 0 1 "" nsv3319398 1 1286307 1286546 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485473,nssv14484600,nssv14473948,nssv14477049,nssv14479528,nssv14474835,nssv14482829,nssv14473440,nssv14473110,nssv14485139 M 14 0 10 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,NA12878 nsv5621484 1 1286326 1286326 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060476 M 35 1 0 "" NA20847 nsv5609121 1 1286366 1286366 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060477 M 35 1 0 "" HG01596 nsv6052205 1 1286380 1286380 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528151 M 405 1 0 "" nsv3063798 1 1286435 1286676 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14037968 M 2 0 1 "" NA12878 nsv5981050 1 1286490 1286648 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528681 M 405 0 1 "" dgv22n152 1 1286496 1286796 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280060,nsv3281699 M 9 0 2 "" HG00514,HG00733 nsv2800115 1 1286667 1286826 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13693685 M 2 0 1 "" nsv3319399 1 1286667 1286826 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482713,nssv14483323,nssv14475992,nssv14479941,nssv14476877,nssv14490537,nssv14476959,nssv14483959,nssv14491178,nssv14481656 M 14 0 10 "" CHM1,CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,NA12878,NA19240,NA19434 nsv6052157 1 1286721 1286721 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533335 M 405 1 0 "" nsv6049274 1 1286791 1286791 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535120 M 405 1 0 "" nsv5619733 1 1286806 1286806 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060478 M 35 1 0 "" HG03371 nsv3319400 1 1286807 1286807 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486813 M 14 1 0 "" NA19434 nsv4034290 1 1287237 1287303 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849886 M 10847 0 1 "" nsv1074030 1 1290399 1292200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770647 M 1 0 1 MXRA8 KWP1 nsv1136054 1 1290400 1292200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966614,nssv3984395 M 2 0 2 MXRA8 KWS1,KWS2 nsv4051472 1 1290843 1462681 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963132 M 10847 1 0 ANKRD65,ATAD3A,ATAD3B,ATAD3C,AURKAIP1,CCNL2,LOC148413,MRPL20,MXRA8,TMEM88B,VWA1 nsv5827979 1 1292180 1297816 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460860 M 914 0 0 MXRA8 nsv5873565 1 1294138 1294194 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366764 M 914 0 1 MXRA8 nsv5980985 1 1294138 1294194 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524620 M 405 0 1 MXRA8 nsv3319852 1 1294139 1294195 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487571 M 14 0 1 MXRA8 HG00268 nsv4044835 1 1294139 1294195 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849978 M 10847 0 1 MXRA8 nsv5432708 1 1294139 1294195 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896390 M 3202 0 1 MXRA8 nsv5425718 1 1296348 1296407 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896391 M 3202 0 1 MXRA8 nsv4039044 1 1297000 1322000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963142 M 10847 1 0 AURKAIP1,CCNL2,MXRA8 nsv5623247 1 1297142 1297142 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060192 M 35 1 0 MXRA8 HG02587 nsv6320143 1 1297467 1307478 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051517 M 19652 0 1 MXRA8 esv3662914 1 1298487 1298487 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485826 M 20 1 0 MXRA8 nsv5883644 1 1298971 1305333 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361239 M 914 0 1 "" nsv4041741 1 1299210 1299686 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963151 M 10847 1 0 "" nsv6545025 1 1301101 1304615 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247003 M 19652 0 0 "" nsv5881365 1 1301601 1301832 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366536 M 914 0 1 "" esv3680341 1 1301943 1302015 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467122 M 20 0 1 "" nsv6243390 1 1301955 1301955 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17852369 M 1021 1 0 "" esv9582 1 1302093 1303093 CNV loss Ahn_et_al_2009 19470904 Sequencing essv32023 M 1 0 0 "" nsv4747150 1 1302271 1302436 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16296425 M 25 0 1 "" nsv5981055 1 1302303 1302449 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530721 M 405 0 1 "" nsv5431114 1 1302305 1302482 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683842 M 3202 0 1 "" nsv4518162 1 1302305 1302833 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849803 M 10847 0 1 "" dgv23n152 1 1302314 1302784 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3208518,nsv3202173 M 9 0 1 "" HG00733 nsv5565806 1 1302317 1302486 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060196 M 35 0 1 "" HG00512 nsv5967270 1 1302326 1302326 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17367928 M 914 1 0 "" nsv5886053 1 1302326 1302424 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357110 M 914 0 1 "" nsv5887499 1 1302326 1302522 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366625 M 914 0 1 "" esv3665433 1 1302326 1302528 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488094 M 20 0 0 "" dgv5n209 1 1302326 1302881 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5878026,nsv5871503 M 914 0 2 "" nsv3282617 1 1302328 1302525 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14430616 M 9 0 1 "" HG00514 nsv3186952 1 1302332 1302436 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14405758 M 9 0 0 "" NA19240 nsv3319210 1 1302334 1302527 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489497,nssv14486882,nssv14473241,nssv14489171,nssv14489350,nssv14477176 M 14 0 6 "" HG00514,HG01352,HG02059,HG02106,NA19240,NA19434 esv3820 1 1302378 1302825 CNV loss Wang_et_al_2008 18987735 Sequencing essv26261 M 1 0 1 "" YH nsv3280483 1 1302489 1302589 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14405332 M 9 0 1 "" NA19240 nsv5828292 1 1302491 1305527 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454758,nssv17466740 M 914 0 0 "" nsv5875209 1 1303138 1303434 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366686 M 914 0 1 "" esv3663178 1 1303558 1303558 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486064 M 20 1 0 "" nsv6550464 1 1304417 1304704 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247005 M 19652 0 0 "" esv3584994 1 1304952 1323528 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840642 M 2504 1 0 AURKAIP1,CCNL2 HG02401 nsv5828084 1 1305228 1317614 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457477 M 914 0 0 AURKAIP1 nsv4051640 1 1307121 1307180 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850637 M 10847 0 1 "" nsv6315818 1 1308166 1311085 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051525 M 19652 0 1 AURKAIP1 nsv5580334 1 1310423 1310477 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060200 M 35 0 1 AURKAIP1 HG03683 nsv5430556 1 1310425 1310478 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896498 M 3202 0 1 AURKAIP1 nsv5730151 1 1311058 1311058 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17251993 M 3202 1 0 "" nsv5726564 1 1311064 1311064 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17243616 M 3202 1 0 "" nsv5715801 1 1312710 1312710 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17243475,nssv17238975 M 3202 2 0 "" nsv4571333 1 1312710 1312711 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025610 M 10847 1 0 "" nsv5554179 1 1312725 1312761 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898422 M 3202 1 0 "" nsv4040449 1 1314604 1315153 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963170 M 10847 1 0 "" nsv4432942 1 1317001 1319000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15754515,nssv15752023,nssv15749573,nssv15748401,nssv15753993,nssv15751421,nssv15745973,nssv15745839,nssv15747687 M 15 9 0 "" BTQ016,BTQ038,BTQ055,NB07,NB08,NB10,NB11,NB12,SMI034 esv2540358 1 1317297 1317998 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5193104 M 1 1 0 "" NA18507 nsv4444226 1 1317610 1317610 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759625 M 1 1 0 "" nsv5980835 1 1317611 1318149 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17522726 M 405 1 0 "" nsv3532182 1 1317649 1317649 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378800 M 9 1 0 "" NA19240 nsv3201212 1 1317649 1318134 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14353682,nssv14353678,nssv14353685,nssv14353683,nssv14353686,nssv14353684,nssv14353681,nssv14353680,nssv14353679 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv3319647 1 1317755 1317755 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489334 M 14 1 0 "" HG02059 esv3681274 1 1317815 1318006 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467206 M 20 0 1 "" nsv3319855 1 1317854 1317854 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482594 M 14 1 0 "" HG02059 nsv3319648 1 1317892 1317892 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474370 M 14 1 0 "" HG02059 nsv2800118 1 1317968 1317968 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13704200 M 2 1 0 "" nsv3319211 1 1317968 1317968 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483388,nssv14474718,nssv14482639,nssv14486371,nssv14491594,nssv14478805,nssv14474797,nssv14491627,nssv14491017,nssv14487597,nssv14476930,nssv14482135,nssv14482307 M 14 13 0 "" CHM1,CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3539045 1 1317968 1317968 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439707,nssv14413454 M 9 2 0 "" HG00514,HG00733 nsv3538422 1 1317980 1317980 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390676 M 9 1 0 "" NA19240 nsv3064005 1 1317994 1317994 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14037348 M 2 1 0 "" NA12878 nsv5621106 1 1318005 1318005 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060201 M 35 1 0 "" HG00731 nsv3058803 1 1318009 1318009 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033134 M 2 1 0 "" CHM1 nsv3936878 1 1318010 1318010 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193130 M 1 1 0 "" HG002 nsv3319649 1 1318012 1318012 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482082,nssv14486397,nssv14484904,nssv14480527,nssv14486000,nssv14482785,nssv14489569,nssv14488133,nssv14476154,nssv14483612,nssv14485135,nssv14488518,nssv14484590 M 14 13 0 "" CHM1,CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3538444 1 1318050 1318050 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439708 M 9 1 0 "" HG00733 nsv6042164 1 1318083 1318083 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521021 M 405 1 0 "" nsv3051605 1 1318102 1318102 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14022808 M 2 1 0 "" NA12878 nsv3536013 1 1318114 1318114 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413455 M 9 1 0 "" HG00514 nsv2801002 1 1318129 1318129 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13706901 M 2 1 0 "" nsv3051606 1 1318155 1318155 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14028371 M 2 1 0 "" NA12878 nsv6058291 1 1318193 1318193 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527440 M 405 1 0 "" nsv5828185 1 1318323 1336721 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452009 M 914 0 0 CCNL2,LOC148413 esv3663290 1 1319645 1319645 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486165 M 20 1 0 "" esv2758913 1 1324529 2024338 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756832,esv2757717 M 270 6 16 ANKRD65,ATAD3A,ATAD3B,ATAD3C,C1orf233,CALML6,CCNL2,CDK11A,CDK11B,GABRD,GNB1,KIAA1751,LOC148413,MIB2,MMP23A,MMP23B,MRPL20,NADK,PRKCZ,SLC35E2,SLC35E2B,SSU72,TMEM240,TMEM52,TMEM88B,VWA1 NA07056,NA10839,NA12003,NA12006,NA12144,NA12248,NA12740,NA12750,NA12762,NA18504,NA18523,NA18537,NA18632,NA18635,NA18854,NA18940,NA18976,NA18994,NA19144,NA19204,NA19205 nsv6331379 1 1329437 1349186 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200120 M 19652 1 0 CCNL2,LOC148413,MRPL20 nsv1011818 1 1329712 1510801 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696755 M 11257 1 0 ANKRD65,ATAD3A,ATAD3B,ATAD3C,CCNL2,LOC148413,MRPL20,SSU72,TMEM240,TMEM88B,VWA1 nsv6539521 1 1331417 1331917 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247011 M 19652 0 0 CCNL2 nsv6549030 1 1331537 1331879 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247012 M 19652 0 0 CCNL2 nsv6335235 1 1337697 1346605 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051534 M 19652 0 1 MRPL20 nsv5980836 1 1338262 1338378 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524159 M 405 0 1 MRPL20 nsv4046844 1 1340871 1359314 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963188 M 10847 1 0 ANKRD65,MRPL20 nsv5828187 1 1340923 1351615 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451243 M 914 0 0 MRPL20 nsv5875894 1 1340952 1359310 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17366248 M 914 1 0 ANKRD65,MRPL20 nsv4517760 1 1344961 1345321 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850493 M 10847 0 1 "" nsv5875183 1 1346710 1346833 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361715 M 914 0 1 "" nsv5981056 1 1346710 1346834 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521259 M 405 0 1 "" nsv5417316 1 1346714 1346834 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898439 M 3202 0 1 "" nsv4043109 1 1347227 1347295 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963197 M 10847 1 0 "" esv3681973 1 1347333 1347392 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467269 M 20 0 1 "" nsv5879044 1 1347380 1347461 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364185 M 914 0 1 "" nsv3319857 1 1347421 1347478 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476315 M 14 0 1 "" HG01352 nsv4516586 1 1347475 1347529 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850676 M 10847 0 1 "" esv3577672 1 1352531 1443716 CNV loss Uddin_et_al_2014 25503493 SNP array essv9766642 M 873 0 1 ANKRD65,ATAD3B,ATAD3C,TMEM88B,VWA1 400719TM nsv5421611 1 1353656 1353707 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898464 M 3202 0 1 "" nsv1074445 1 1355499 1356100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767725 M 1 0 1 ANKRD65 KWP1 nsv1143428 1 1355600 1356100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980625 M 2 0 1 ANKRD65 KWS1 dgv24n152 1 1355699 1370925 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3212095,nsv3222523 M 9 6 0 ANKRD65,TMEM88B,VWA1 HG00512,HG00514,HG00731,HG00733,NA19238,NA19240 nsv5878771 1 1356083 1356136 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363010 M 914 0 1 ANKRD65 nsv545000 1 1356550 1509034 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708584 M 17421 0 1 ANKRD65,ATAD3A,ATAD3B,ATAD3C,SSU72,TMEM240,TMEM88B,VWA1 nsv4517395 1 1357287 1357364 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850718 M 10847 0 1 "" nsv5540394 1 1358875 1358912 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899446 M 3202 1 0 "" nsv6547337 1 1360599 1657543 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247017 M 19652 0 0 ATAD3A,ATAD3B,ATAD3C,C1orf233,CDK11A,CDK11B,MIB2,MMP23A,MMP23B,SLC35E2,SLC35E2B,SSU72,TMEM240,TMEM88B,VWA1 nsv1126168 1 1361800 1363600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984396 M 2 0 1 TMEM88B KWS1 nsv1074978 1 1362399 1363600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767910 M 1 0 1 TMEM88B KWP1 nsv5619354 1 1362426 1362426 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060210 M 35 1 0 TMEM88B HG03065 esv24333 1 1362430 1363536 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv10423 M 40 1 0 TMEM88B NA06985 nsv1121740 1 1362600 1363600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968389 M 2 0 1 TMEM88B KWS2 esv3389517 1 1362678 1363659 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652040 M 185 1 0 TMEM88B NA19240 nsv5981057 1 1362713 1362882 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17528698 M 405 1 0 TMEM88B nsv5416896 1 1362786 1362881 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899479 M 3202 1 0 TMEM88B nsv3537363 1 1362818 1362818 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413456 M 9 1 0 TMEM88B HG00514 nsv5620734 1 1362827 1362827 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060211 M 35 1 0 TMEM88B HG03065 nsv3319858 1 1362828 1362828 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486337 M 14 1 0 TMEM88B NA12878 nsv3537835 1 1362834 1362834 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373550 M 9 1 0 TMEM88B NA19240 nsv5616569 1 1362848 1362848 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060212 M 35 1 0 TMEM88B HG03683 nsv3530744 1 1362850 1362850 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380430 M 9 1 0 TMEM88B NA19240 nsv3320278 1 1362857 1362857 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489594,nssv14488715,nssv14483881,nssv14480971,nssv14485802,nssv14491327,nssv14490528 M 14 7 0 TMEM88B HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,NA12878 nsv3530837 1 1362857 1362857 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413457 M 9 1 0 TMEM88B HG00514 nsv3539074 1 1362868 1362868 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385547 M 9 1 0 TMEM88B NA19240 nsv3532944 1 1363366 1363366 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373951 M 9 1 0 "" NA19240 nsv5608348 1 1363380 1363380 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060213 M 35 1 0 "" HG03732 nsv3319214 1 1363399 1363399 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491947 M 14 1 0 "" HG01352 nsv3540822 1 1363406 1363406 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413458 M 9 1 0 "" HG00514 nsv3533290 1 1363408 1363408 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381349 M 9 1 0 "" NA19240 nsv3319406 1 1363412 1363412 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480838,nssv14483549,nssv14478796,nssv14472372 M 14 4 0 "" HG00268,HG00514,HG02059,NA12878 nsv3533978 1 1363416 1363416 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439710 M 9 1 0 "" HG00733 nsv6044648 1 1363430 1363430 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524616 M 405 1 0 "" nsv3532314 1 1363448 1363448 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413459 M 9 1 0 "" HG00514 nsv3534976 1 1363459 1363459 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439711 M 9 1 0 "" HG00733 nsv5981063 1 1363461 1363561 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535149 M 405 0 1 "" nsv3319215 1 1363467 1363467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476316,nssv14478984,nssv14483379,nssv14486973,nssv14483101,nssv14480627,nssv14476840 M 14 7 0 "" HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,NA12878 nsv3531189 1 1363478 1363478 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391467 M 9 1 0 "" NA19240 nsv3530969 1 1363493 1363493 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413460 M 9 1 0 "" HG00514 nsv3535105 1 1363500 1363500 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439712 M 9 1 0 "" HG00733 nsv5619820 1 1363500 1363500 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060214 M 35 1 0 "" HG00732 nsv3319859 1 1363501 1363501 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480232,nssv14487884,nssv14486490 M 14 3 0 "" HG00733,HG02106,NA12878 nsv4038277 1 1363702 1363857 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963208 M 10847 1 0 "" nsv5423279 1 1363702 1363857 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899515 M 3202 1 0 "" nsv5827981 1 1364920 1371611 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453700 M 914 0 0 VWA1 nsv5981153 1 1366430 1366482 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528429 M 405 0 1 "" nsv5879305 1 1367879 1368871 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350153 M 914 0 1 "" nsv5559597 1 1367881 1368493 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899530 M 3202 0 0 "" nsv4517880 1 1367881 1368872 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850729 M 10847 0 1 "" nsv5415329 1 1367881 1368872 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899531 M 3202 0 1 "" nsv5421545 1 1368493 1369082 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899599 M 3202 1 0 "" nsv4040619 1 1368493 1369096 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963222 M 10847 1 0 "" nsv5828297 1 1369394 1378508 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452366 M 914 0 0 VWA1 nsv4050713 1 1369425 1369755 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850737 M 10847 0 1 "" nsv5430364 1 1369425 1369755 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899600 M 3202 0 1 "" nsv5427878 1 1373065 1373157 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899601 M 3202 1 0 VWA1 nsv5828301 1 1373512 1379208 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462806 M 914 0 0 VWA1 nsv4036305 1 1373967 1374076 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850748 M 10847 0 1 VWA1 dgv12n223 1 1375781 1414380 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6316122,nsv6333954 M 19652 2 0 ATAD3B,ATAD3C,VWA1 nsv545001 1 1376147 1431798 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708585 M 17421 0 1 ATAD3B,ATAD3C,VWA1 nsv5952642 1 1378315 1378315 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17365053 M 914 1 0 "" nsv6052495 1 1378318 1378318 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528366 M 405 1 0 "" nsv6058677 1 1378919 1378919 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526815 M 405 1 0 "" nsv5981329 1 1379053 1379105 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528178 M 405 0 1 "" dgv13n223 1 1379181 1433387 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6328800,nsv6324966 M 19652 0 2 ATAD3B,ATAD3C dgv14n223 1 1379681 1391680 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6331131,nsv6335299 M 19652 0 2 ATAD3C nsv5884817 1 1379726 1379775 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361460 M 914 0 1 "" dgv15n223 1 1380081 1438821 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6320483,nsv6320375,nsv6324897,nsv6323316 M 19652 4 0 ATAD3B,ATAD3C nsv6324817 1 1380281 1413180 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051951 M 19652 0 1 ATAD3B,ATAD3C nsv4037598 1 1380400 1391500 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850756 M 10847 0 1 ATAD3C nsv3319868 1 1380550 1380632 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489488 M 14 0 1 "" HG00268 nsv6330590 1 1380559 1380642 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051952 M 19652 0 1 "" nsv5981182 1 1380574 1380657 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533229 M 405 0 1 "" nsv6323852 1 1380781 1382380 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051954 M 19652 0 1 "" nsv6327357 1 1380781 1389080 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201220 M 19652 1 0 ATAD3C nsv5876779 1 1381223 1433059 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351010 M 914 0 1 ATAD3B,ATAD3C dgv6n209 1 1381338 1390251 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5828198,nsv5828092 M 914 0 0 ATAD3C nsv3320517 1 1382730 1382730 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475485 M 14 1 0 "" HG00268 nsv3320519 1 1383157 1383157 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14477013 M 14 1 0 "" HG00268 nsv1119656 1 1383278 1383336 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982100 M 2 0 1 "" KWS1 nsv3320334 1 1383806 1383806 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14472542 M 14 1 0 "" HG00268 nsv3320104 1 1384322 1384322 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14491588 M 14 1 0 "" HG00268 nsv6320048 1 1384527 1384726 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051732 M 19652 0 1 "" nsv482135 1 1385069 1405538 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558496 M 1 1 0 ATAD3C KB1 nsv3320105 1 1385145 1385445 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485688 M 14 0 1 ATAD3C HG00268 dgv34n54 1 1385211 1439694 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545007,nsv545006,nsv545005,nsv545004,nsv545002,nsv545003,nsv545008,nsv545009 M 17421 0 10 ATAD3B,ATAD3C dgv16n223 1 1385239 1451741 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6332838,nsv6328893 M 19652 2 0 ATAD3A,ATAD3B,ATAD3C nsv945742 1 1385320 1398680 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750489,nssv1750467,nssv1749471,nssv1750465,nssv1749473,nssv1750461,nssv1749474,nssv1750469,nssv1749480,nssv1750455,nssv1749481,nssv1750457,nssv1749478,nssv1750445,nssv1750432,nssv1750476,nssv1749475,nssv1750446,nssv1750422,nssv1750494,nssv1749482,nssv1750493,nssv1750487,nssv1750437,nssv1749484,nssv1750459,nssv1750486,nssv1750443,nssv1750482,nssv1750441,nssv1750480,nssv1750498,nssv1749479,nssv1750439,nssv1750424,nssv1750499,nssv1750481,nssv1750492,nssv1749476,nssv1750456,nssv1750434,nssv1750478,nssv1750479,nssv1750471,nssv1750426,nssv1750452,nssv1750428,nssv1750501,nssv1750431,nssv1750442,nssv1750425,nssv1750447,nssv1750414,nssv1750466,nssv1750416,nssv1750449,nssv1749486,nssv1750454,nssv1750420,nssv1750491,nssv1749477,nssv1750472,nssv1749470,nssv1750463,nssv1749485,nssv1750458,nssv1750421,nssv1750500,nssv1750427,nssv1750474,nssv1750490,nssv1750495,nssv1750430,nssv1750470,nssv1750413,nssv1750450,nssv1750423,nssv1750460,nssv1750435,nssv1750477,nssv1750488,nssv1750475,nssv1750415,nssv1750438,nssv1750433,nssv1750453,nssv1750483,nssv1750497,nssv1750419,nssv1750444,nssv1750417,nssv1750468,nssv1749487,nssv1750436,nssv1750412,nssv1750448,nssv1750464 M 97 10 0 ATAD3C HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv17n223 1 1385460 1423239 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6321646,nsv6329843,nsv6319835,nsv6334979 M 19652 0 4 ATAD3B,ATAD3C dgv7n166 1 1385461 1423235 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4033203,nsv4046381 M 10847 0 2 ATAD3B,ATAD3C nsv6330409 1 1385878 1451251 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051734 M 19652 0 1 ATAD3A,ATAD3B,ATAD3C nsv5828199 1 1386061 1390301 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453214,nssv17459838 M 914 0 0 ATAD3C nsv3320533 1 1386422 1386684 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14479173 M 14 0 1 ATAD3C HG00268 dgv7n209 1 1387096 1423288 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5887089,nsv5880778 M 914 0 2 ATAD3B,ATAD3C nsv5433354 1 1387154 1415954 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900977 M 3202 1 0 ATAD3B,ATAD3C dgv18n223 1 1387176 1424632 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6320623,nsv6333570,nsv6323514 M 19652 3 0 ATAD3B,ATAD3C nsv4050842 1 1387215 1415991 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962533 M 10847 1 0 ATAD3B,ATAD3C dgv4n206 1 1387585 1423260 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nsv5415539,nsv6138456 M 3202 0 2 ATAD3B,ATAD3C nsv5827992 1 1388268 1393661 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456378,nssv17451574 M 914 0 0 ATAD3C esv3584995 1 1388953 1410796 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840673,essv9840656,essv9840670,essv9840653,essv9840667,essv9840655,essv9840671,essv9840654,essv9840666,essv9840652,essv9840678,essv9840672,essv9840646,essv9840674,essv9840669,essv9840651,essv9840676,essv9840668,essv9840650,essv9840677,essv9840648,essv9840675,essv9840647,essv9840679,essv9840649,essv9840661,essv9840682,essv9840660,essv9840683,essv9840659,essv9840681,essv9840662,essv9840680,essv9840663,essv9840644,essv9840665,essv9840643,essv9840657,essv9840645,essv9840658,essv9840664 M 2504 0 41 ATAD3B,ATAD3C HG00109,HG00232,HG00268,HG00536,HG01085,HG01280,HG01509,HG01556,HG01607,HG01631,HG01694,HG01842,HG02232,HG02465,HG02561,HG02648,HG02725,HG03097,HG03234,HG03265,HG03298,HG03433,HG03464,HG03693,HG03844,HG04182,HG04214,NA11918,NA11920,NA12046,NA12546,NA12778,NA18486,NA18516,NA19171,NA19189,NA19308,NA19794,NA20870,NA20910,NA21108 nsv4040104 1 1389003 1410638 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850776 M 10847 0 1 ATAD3B,ATAD3C nsv5874534 1 1389060 1410637 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359506 M 914 0 1 ATAD3B,ATAD3C nsv6318313 1 1389091 1410617 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051738 M 19652 0 1 ATAD3B,ATAD3C nsv5981254 1 1390307 1390637 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527062 M 405 0 1 ATAD3C nsv5724081 1 1390596 1390596 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17238651 M 3202 1 0 ATAD3C nsv5828310 1 1390702 1393661 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464556,nssv17463866 M 914 0 0 ATAD3C nsv5828095 1 1390703 1399390 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450857,nssv17457551 M 914 0 0 ATAD3C nsv4559999 1 1391221 1391222 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025096 M 10847 1 0 ATAD3C nsv5432272 1 1391368 1459380 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900989 M 3202 0 1 ATAD3A,ATAD3B,ATAD3C dgv1e214 1 1392382 1427383 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3584997,esv3584996 M 2504 0 42 ATAD3B,ATAD3C HG00109,HG00232,HG00268,HG00536,HG01085,HG01280,HG01509,HG01556,HG01607,HG01631,HG01694,HG01842,HG02232,HG02465,HG02648,HG02725,HG03097,HG03234,HG03265,HG03298,HG03433,HG03464,HG03693,HG03844,HG04182,HG04214,NA11918,NA11920,NA12046,NA12546,NA12778,NA18486,NA18516,NA19171,NA19189,NA19308,NA19438,NA19794,NA20314,NA20870,NA20910,NA21108 nsv5868550 1 1392500 1460587 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359074 M 914 0 1 ATAD3A,ATAD3B,ATAD3C nsv4049839 1 1393637 1393784 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848773 M 10847 0 1 ATAD3C esv3584998 1 1393861 1427383 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840767,essv9840769,essv9840766,essv9840772,essv9840786,essv9840782,essv9840771,essv9840784,essv9840783,essv9840775,essv9840785,essv9840773,essv9840777,essv9840776,essv9840778,essv9840774,essv9840779,essv9840770,essv9840780,essv9840768,essv9840781 M 2504 21 0 ATAD3B,ATAD3C HG00620,HG00982,HG01757,HG01815,HG02079,HG02141,HG02165,HG02178,HG02180,HG02382,HG02389,HG02521,HG02786,HG03111,HG03235,HG03640,NA18574,NA18632,NA19383,NA19403,NA19776 nsv5414479 1 1393863 1393937 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900991 M 3202 0 1 ATAD3C esv3548565 1 1394384 1424669 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9747312 M 767 0 1 ATAD3B,ATAD3C nsv4534806 1 1396969 1396970 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026481 M 10847 1 0 ATAD3C nsv4751638 1 1396978 1396978 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16273074 M 25 1 0 ATAD3C nsv4048816 1 1396994 1397132 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962539 M 10847 1 0 ATAD3C nsv5620673 1 1397001 1397001 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061114 M 35 1 0 ATAD3C HG03486 nsv5882148 1 1397001 1397078 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17352820 M 914 1 0 ATAD3C nsv6056817 1 1397014 1397014 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529441 M 405 1 0 ATAD3C nsv5607604 1 1397021 1397021 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061115 M 35 1 0 ATAD3C HG02587 nsv5872131 1 1397028 1397105 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350605 M 914 0 1 ATAD3C esv3682295 1 1397028 1397107 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467298 M 20 0 1 ATAD3C nsv6147297 1 1397045 1397072 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900992 M 3202 0 0 ATAD3C nsv6052538 1 1397072 1397072 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520225 M 405 1 0 ATAD3C nsv5431955 1 1397262 1397356 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900993 M 3202 0 1 ATAD3C dgv1e212 1 1397490 1429151 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577668,esv3577667,esv3577677,esv3577675 M 873 0 10 ATAD3B,ATAD3C 400554WB,400641WJ,400649PS,400800MW,400852WJ,401314MK,401432SB,401513KC,401769CR,401808PS dgv2e212 1 1397490 1453590 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577674,esv3577673,esv3577670,esv3577669,esv3577676 M 873 0 13 ATAD3A,ATAD3B,ATAD3C 400091BS,400364SS,400618GC,400695PH,400818BL,400834SS,401026AM,401380OL,401438HT,401804FG,401958MF,402001SR,402016HZ nsv4050019 1 1397764 1397826 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848783 M 10847 0 1 ATAD3C nsv5874034 1 1398758 1400152 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356713 M 914 0 1 ATAD3C nsv6329952 1 1398781 1400080 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052145 M 19652 0 1 ATAD3C dgv19n223 1 1399204 1430592 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6332034,nsv6317569,nsv6332310,nsv6318090 M 19652 0 4 ATAD3B,ATAD3C nsv6335470 1 1399928 1400692 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052152 M 19652 0 1 ATAD3C nsv5429024 1 1399929 1400698 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900994 M 3202 0 1 ATAD3C esv3584999 1 1400225 1409107 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840799,essv9840813,essv9840798,essv9840808,essv9840796,essv9840806,essv9840797,essv9840810,essv9840814,essv9840791,essv9840812,essv9840815,essv9840790,essv9840809,essv9840816,essv9840792,essv9840811,essv9840793,essv9840807,essv9840794,essv9840803,essv9840795,essv9840801,essv9840788,essv9840804,essv9840787,essv9840802,essv9840789,essv9840800,essv9840820,essv9840805,essv9840818,essv9840817,essv9840819 M 2504 0 34 ATAD3B,ATAD3C HG00109,HG00232,HG00268,HG00536,HG01085,HG01280,HG01509,HG01556,HG01631,HG01694,HG01842,HG02232,HG02465,HG02648,HG02725,HG03097,HG03234,HG03298,HG03433,HG03693,HG03844,HG04182,HG04214,NA11918,NA11920,NA12046,NA12546,NA12778,NA18486,NA19308,NA19722,NA19794,NA20910,NA21108 esv2662001 1 1400322 1408950 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5912105 M 1151 0 1 ATAD3B,ATAD3C NA19722 nsv5426699 1 1400391 1409001 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900995 M 3202 0 1 ATAD3B,ATAD3C nsv1074040 1 1400436 1400509 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769063 M 1 0 1 ATAD3C KWP1 nsv4536120 1 1400613 1400614 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027141 M 10847 1 0 ATAD3C nsv3320558 1 1401386 1401933 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14492009 M 14 0 1 ATAD3C HG00268 esv3663499 1 1401915 1401915 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486352 M 20 1 0 ATAD3C dgv20n223 1 1402464 1429633 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6326608,nsv6319501 M 19652 2 0 ATAD3B,ATAD3C nsv6318753 1 1402481 1404480 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052158 M 19652 0 1 ATAD3C nsv4037856 1 1402481 1429617 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962547 M 10847 1 0 ATAD3B,ATAD3C dgv21n223 1 1403257 1452545 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6328003,nsv6319167 M 19652 2 0 ATAD3A,ATAD3B,ATAD3C nsv6321127 1 1404281 1412080 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052161 M 19652 0 1 ATAD3B,ATAD3C nsv6317183 1 1404381 1407880 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052162 M 19652 0 1 ATAD3B,ATAD3C nsv6334379 1 1404481 1410780 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200836 M 19652 1 0 ATAD3B,ATAD3C nsv3319912 1 1405130 1405568 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478103 M 14 0 1 ATAD3C HG00268 nsv6332111 1 1406222 1417530 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052175 M 19652 0 1 ATAD3B nsv3319919 1 1406247 1406591 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476799 M 14 0 1 "" HG00268 nsv5828008 1 1406292 1411386 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457080,nssv17461460 M 914 0 0 ATAD3B nsv6326034 1 1406681 1410380 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052178 M 19652 0 1 ATAD3B nsv3320569 1 1406936 1406936 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474924 M 14 1 0 "" HG00268 nsv1136055 1 1407100 1448100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989660 M 2 0 1 ATAD3A,ATAD3B KWS2 nsv482146 1 1407164 1431581 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558507 M 1 1 0 ATAD3B KB1 nsv6320059 1 1407181 1408580 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052181 M 19652 0 1 ATAD3B nsv4035141 1 1407214 1447570 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962555 M 10847 1 0 ATAD3A,ATAD3B nsv5416685 1 1407374 1448080 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900997 M 3202 0 1 ATAD3A,ATAD3B nsv4043789 1 1407447 1408444 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848802 M 10847 0 1 ATAD3B nsv5430657 1 1407447 1408444 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900998 M 3202 0 1 ATAD3B nsv6334808 1 1407881 1411880 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052189 M 19652 0 1 ATAD3B nsv3320376 1 1408042 1410077 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478191 M 14 0 1 ATAD3B HG00268 dgv8n209 1 1408517 1414564 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5828326,nsv5828324,nsv5828115 M 914 0 0 ATAD3B nsv6320902 1 1410769 1449062 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052215 M 19652 0 1 ATAD3A,ATAD3B nsv945743 1 1411587 1426269 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750504,nssv1750579,nssv1750503,nssv1750552,nssv1750512,nssv1750580,nssv1750513,nssv1750568,nssv1750505,nssv1750570,nssv1750597,nssv1750585,nssv1750541,nssv1750582,nssv1750538,nssv1750549,nssv1750524,nssv1750599,nssv1750543,nssv1750604,nssv1750525,nssv1750547,nssv1750591,nssv1750577,nssv1750519,nssv1750574,nssv1750526,nssv1750544,nssv1750539,nssv1750560,nssv1750527,nssv1750556,nssv1750510,nssv1750548,nssv1750515,nssv1750550,nssv1750528,nssv1750563,nssv1750511,nssv1750583,nssv1750516,nssv1750601,nssv1750537,nssv1750581,nssv1750506,nssv1750564,nssv1750593,nssv1750602,nssv1750534,nssv1750553,nssv1750588,nssv1750571,nssv1750508,nssv1750554,nssv1750542,nssv1750546,nssv1750533,nssv1750606,nssv1750587,nssv1750575,nssv1750522,nssv1750567,nssv1750514,nssv1750545,nssv1750531,nssv1750608,nssv1750509,nssv1750572,nssv1750594,nssv1750558,nssv1750521,nssv1750566,nssv1750523,nssv1750605,nssv1750590,nssv1750600,nssv1750598,nssv1750569,nssv1750532,nssv1750576,nssv1750536,nssv1750559,nssv1750502,nssv1750557,nssv1750520,nssv1750555,nssv1750592,nssv1750565,nssv1750517,nssv1750609,nssv1750535,nssv1750586,nssv1750530,nssv1750603,nssv1750589,nssv1750578,nssv1750561 M 97 10 0 ATAD3B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3320145 1 1411918 1412215 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14481053 M 14 0 1 ATAD3B HG00268 nsv3320572 1 1412550 1412550 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490636 M 14 1 0 ATAD3B HG00268 nsv5883482 1 1412603 1413163 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353432 M 914 0 1 ATAD3B nsv4049373 1 1412633 1421868 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848812 M 10847 0 1 ATAD3B nsv5880502 1 1412851 1425785 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363858 M 914 0 1 ATAD3B nsv5883655 1 1413215 1413347 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368456 M 914 0 1 ATAD3B nsv5414347 1 1413217 1413382 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900999 M 3202 1 0 ATAD3B nsv3191686 1 1413218 1413382 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355087,nssv14355089,nssv14355088 M 9 0 3 ATAD3B HG00512,HG00514,NA19238 nsv4762699 1 1413219 1413219 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288485 M 25 1 0 ATAD3B nsv1133122 1 1413220 1413353 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987939 M 2 1 0 ATAD3B KWS1 nsv3320573 1 1413230 1413230 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14484079,nssv14475149,nssv14478864,nssv14478894,nssv14488858 M 14 5 0 ATAD3B HG01352,HG02106,HG02818,NA19240,NA19434 esv3663562 1 1413234 1413234 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486409 M 20 1 0 ATAD3B nsv3522210 1 1413234 1413234 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386129 M 9 1 0 ATAD3B NA19240 nsv3928007 1 1413234 1413234 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193187 M 1 1 0 ATAD3B HG002 nsv5605831 1 1413234 1413234 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060552 M 35 1 0 ATAD3B HG00731 nsv6041022 1 1413234 1413234 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522958 M 405 1 0 ATAD3B nsv1119396 1 1413234 1413327 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3959838 M 2 1 0 ATAD3B KWS1 nsv6332852 1 1413234 1413364 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200853 M 19652 1 0 ATAD3B nsv3056061 1 1413262 1413262 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025826 M 2 1 0 ATAD3B NA12878 esv3670883 1 1413321 1413321 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493000 M 20 1 0 ATAD3B nsv2801014 1 1413321 1413321 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13697304 M 2 1 0 ATAD3B nsv3320574 1 1413321 1413321 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14473785,nssv14473699,nssv14482420,nssv14478035,nssv14490249,nssv14489686,nssv14491063,nssv14490754,nssv14488678,nssv14477193 M 14 10 0 ATAD3B CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02818,HX1,NA12878 nsv3521290 1 1413326 1413326 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439713,nssv14413462 M 9 2 0 ATAD3B HG00514,HG00733 esv1254392 1 1413349 1413349 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3989689 M 2 1 0 ATAD3B HuRef dgv22n223 1 1413381 1416580 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6322527,nsv6329361 M 19652 0 2 ATAD3B nsv6331667 1 1413481 1431880 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052229 M 19652 0 1 ATAD3B esv2661503 1 1414245 1416792 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6428187,essv6270841,essv5843575,essv6158256,essv5673238,essv6060091,essv5978113,essv6214666,essv5846416,essv5843579,essv6315584,essv5508008,essv6564232,essv6250432,essv6064386,essv5714896,essv5562046,essv6369700,essv6007146,essv5587762,essv5975062,essv6587240,essv5863834,essv5583587,essv6132856,essv6372532,essv6367328,essv6275133,essv6347901 M 1151 0 29 ATAD3B NA19652,NA19655,NA19660,NA19661,NA19663,NA19676,NA19682,NA19685,NA19716,NA19717,NA19722,NA19723,NA19725,NA19726,NA19731,NA19732,NA19746,NA19747,NA19750,NA19755,NA19756,NA19758,NA19759,NA19771,NA19776,NA19785,NA19786,NA19788,NA19789 nsv5828330 1 1414565 1416328 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466212,nssv17465926 M 914 0 0 ATAD3B nsv3320382 1 1414800 1414851 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477267,nssv14477368 M 14 0 2 ATAD3B HG02106,HG02818 nsv5580640 1 1414810 1414861 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060561 M 35 0 1 ATAD3B HG02818 nsv5981114 1 1414810 1414862 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529001 M 405 0 1 ATAD3B nsv5981115 1 1414823 1416205 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521061 M 405 0 1 ATAD3B esv25832 1 1414909 1416195 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11756 M 40 0 3 ATAD3B NA18511,NA18523,NA18861 nsv545010 1 1415099 1453921 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708596 M 17421 0 1 ATAD3A,ATAD3B nsv5981268 1 1415612 1416205 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522486 M 405 0 1 ATAD3B nsv3319924 1 1415654 1416167 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481436 M 14 0 1 ATAD3B HG02106 nsv5577271 1 1415663 1416204 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060572 M 35 0 1 ATAD3B HG02818 nsv3320383 1 1415725 1415813 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489812 M 14 0 1 ATAD3B HG02818 esv3577678 1 1415848 1429151 CNV loss Uddin_et_al_2014 25503493 SNP array essv9782199 M 873 0 1 ATAD3B 401869BG nsv3319925 1 1415916 1416205 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487203 M 14 0 1 ATAD3B HG02818 nsv4036315 1 1416000 1432000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848831 M 10847 0 1 ATAD3B dgv23n223 1 1416181 1432480 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6323324,nsv6334533 M 19652 2 0 ATAD3B nsv5981594 1 1416207 1454268 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17527290 M 405 1 0 ATAD3A,ATAD3B nsv6138726 1 1416330 1437024 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901001 M 3202 1 0 ATAD3B nsv6321250 1 1416581 1422580 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200867 M 19652 1 0 ATAD3B nsv4043817 1 1416850 1434250 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962563 M 10847 1 0 ATAD3B nsv5577032 1 1417315 1417365 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060950 M 35 0 1 ATAD3B HG03486 nsv5879181 1 1417315 1417365 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363115 M 914 0 1 ATAD3B nsv3320151 1 1417316 1417366 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475796 M 14 0 1 ATAD3B HG00268 nsv5828014 1 1417383 1423795 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464804,nssv17462177 M 914 0 0 ATAD3B esv3663704 1 1418556 1418556 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486537 M 20 1 0 ATAD3B nsv4571638 1 1419180 1419181 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027157 M 10847 1 0 ATAD3B nsv5828339 1 1419439 1433828 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452106,nssv17464994 M 914 0 0 ATAD3B nsv5828223 1 1419489 1427717 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458654,nssv17465833 M 914 0 0 ATAD3B nsv6316939 1 1422826 1438539 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052900 M 19652 0 1 ATAD3B esv3585000 1 1424924 1462190 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840821 M 2504 0 1 ATAD3A,ATAD3B HG02648 nsv5543611 1 1424959 1424959 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901002 M 3202 1 0 ATAD3B nsv4536337 1 1424959 1424960 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025260 M 10847 1 0 ATAD3B nsv3320396 1 1424960 1424960 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483658 M 14 1 0 ATAD3B NA19434 nsv5617060 1 1424962 1424962 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060771 M 35 1 0 ATAD3B HG03371 nsv6330232 1 1424984 1425598 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052902 M 19652 0 1 ATAD3B nsv4052011 1 1424985 1425598 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848857 M 10847 0 1 ATAD3B dgv24n223 1 1425044 1466033 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6331458,nsv6334677 M 19652 2 0 ATAD3A,ATAD3B nsv6320459 1 1425781 1429980 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052903 M 19652 0 1 ATAD3B nsv4051835 1 1426318 1426853 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848867 M 10847 0 1 ATAD3B nsv5884287 1 1426603 1426981 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365859 M 914 0 1 ATAD3B nsv5429307 1 1427054 1434266 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901004 M 3202 0 1 ATAD3B nsv4518157 1 1428888 1438547 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962573 M 10847 1 0 ATAD3B nsv6317239 1 1428889 1437529 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200911 M 19652 1 0 ATAD3B nsv6316127 1 1429066 1429806 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052911 M 19652 0 1 ATAD3B nsv4033161 1 1429100 1429806 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848877 M 10847 0 1 ATAD3B nsv6322206 1 1429581 1432480 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052912 M 19652 0 1 ATAD3B nsv5606497 1 1429631 1429631 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060601 M 35 1 0 ATAD3B HG00732 nsv5874187 1 1429631 1430099 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17355340 M 914 1 0 ATAD3B nsv3525892 1 1429631 1430100 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356080,nssv14356079,nssv14356078 M 9 3 0 ATAD3B HG00732,NA19239,NA19240 nsv6334144 1 1429631 1430100 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201494 M 19652 1 0 ATAD3B nsv4051453 1 1429631 1430103 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962584 M 10847 1 0 ATAD3B nsv5427813 1 1429631 1430103 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901016 M 3202 1 0 ATAD3B nsv3320183 1 1429632 1429632 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472443 M 14 1 0 ATAD3B NA19240 nsv5879149 1 1429820 1429873 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360109 M 914 0 1 ATAD3B nsv4040742 1 1429895 1430694 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848887 M 10847 0 1 ATAD3B nsv6325310 1 1429994 1443650 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052913 M 19652 0 1 ATAD3B nsv3173046 1 1430045 1430513 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389554 M 9 0 0 ATAD3B NA19240 nsv6138870 1 1430775 1444497 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901027 M 3202 0 1 ATAD3B nsv5874765 1 1430831 1469271 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349955 M 914 0 1 ATAD3A,ATAD3B nsv5556051 1 1430833 1431060 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901035 M 3202 0 0 ATAD3B nsv6334189 1 1431944 1432503 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052918 M 19652 0 1 "" nsv945744 1 1432368 1465586 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750703,nssv1750711,nssv1750611,nssv1750672,nssv1750613,nssv1750666,nssv1750620,nssv1750682,nssv1750612,nssv1750689,nssv1750621,nssv1750665,nssv1750626,nssv1750653,nssv1750630,nssv1750663,nssv1750643,nssv1750688,nssv1750624,nssv1750683,nssv1750633,nssv1750667,nssv1750623,nssv1750686,nssv1750702,nssv1750681,nssv1750639,nssv1750715,nssv1750697,nssv1750669,nssv1750637,nssv1750716,nssv1750628,nssv1750712,nssv1750617,nssv1750693,nssv1750645,nssv1750657,nssv1750638,nssv1750652,nssv1750698,nssv1750687,nssv1750619,nssv1750685,nssv1750700,nssv1750678,nssv1750648,nssv1750692,nssv1750646,nssv1750705,nssv1750650,nssv1750710,nssv1750631,nssv1750674,nssv1750649,nssv1750709,nssv1750694,nssv1750670,nssv1750632,nssv1750675,nssv1750699,nssv1750691,nssv1750636,nssv1750676,nssv1750627,nssv1750659,nssv1750625,nssv1750668,nssv1750647,nssv1750664,nssv1750615,nssv1750679,nssv1750616,nssv1750690,nssv1750622,nssv1750708,nssv1750696,nssv1750658,nssv1750634,nssv1750656,nssv1750704,nssv1750661,nssv1750701,nssv1750714,nssv1750644,nssv1750660,nssv1750635,nssv1750713,nssv1750610,nssv1750654,nssv1750614,nssv1750655,nssv1750642,nssv1750680,nssv1750641,nssv1750671,nssv1750677 M 97 10 0 ATAD3A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5828127 1 1432503 1434019 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469260,nssv17462827,nssv17465906 M 914 0 0 "" nsv6326697 1 1432881 1433380 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052923 M 19652 0 1 "" nsv4041399 1 1433021 1435660 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848897 M 10847 0 1 "" nsv5431252 1 1433022 1435660 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901037 M 3202 0 1 "" nsv6319126 1 1434181 1436680 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052926 M 19652 0 1 "" nsv5880744 1 1434475 1434630 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357390 M 914 0 1 "" dgv8n166 1 1434478 1434634 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4033861,nsv4050897 M 10847 0 2 "" nsv5873616 1 1434604 1434864 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366077 M 914 0 1 "" nsv6325329 1 1434604 1435531 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201512 M 19652 1 0 "" nsv4040477 1 1434604 1435565 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962591 M 10847 1 0 "" nsv5423854 1 1435222 1437823 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901038 M 3202 0 1 "" nsv5556812 1 1435277 1435913 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901039 M 3202 0 0 "" nsv6549938 1 1435278 1435914 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247507 M 19652 0 0 "" nsv5974680 1 1435359 1435866 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17352488 M 914 0 0 "" nsv5421874 1 1435378 1436735 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901040 M 3202 0 1 "" nsv6334950 1 1435796 1436186 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052936 M 19652 0 1 "" nsv6322357 1 1436131 1438320 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052939 M 19652 0 1 "" nsv5414289 1 1436770 1437675 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901041 M 3202 0 1 "" esv3674612 1 1437033 1437034 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496354 M 20 0 0 "" nsv5425567 1 1437836 1438140 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901042 M 3202 0 1 "" nsv5419419 1 1438111 1438180 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901046 M 3202 0 1 "" esv3585001 1 1438168 1449503 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840828,essv9840824,essv9840827,essv9840823,essv9840826,essv9840822,essv9840825 M 2504 0 7 ATAD3A HG00125,HG00146,HG01390,HG02648,HG03117,HG03460,HG03697 dgv9n209 1 1438563 1452542 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5828129,nsv5828346 M 914 0 0 ATAD3A nsv6331301 1 1439007 1451531 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201520 M 19652 1 0 ATAD3A nsv4042037 1 1439015 1451485 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961193 M 10847 1 0 ATAD3A nsv4042187 1 1441315 1443826 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848746 M 10847 0 1 "" nsv5427951 1 1441315 1443826 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901056 M 3202 0 1 "" nsv6329943 1 1441315 1443826 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052974 M 19652 0 1 "" esv3585002 1 1441334 1443842 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840830,essv9840833,essv9840829,essv9840832,essv9840831,essv9840835,essv9840834 M 2504 0 7 "" HG00125,HG00146,HG01390,HG02648,HG02804,HG03117,HG03697 esv3585003 1 1443538 1445747 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840895,essv9840878,essv9840894,essv9840887,essv9840893,essv9840891,essv9840844,essv9840836,essv9840886,essv9840839,essv9840866,essv9840841,essv9840877,essv9840840,essv9840884,essv9840843,essv9840865,essv9840842,essv9840855,essv9840838,essv9840888,essv9840837,essv9840859,essv9840845,essv9840860,essv9840942,essv9840871,essv9840927,essv9840852,essv9840940,essv9840867,essv9840933,essv9840892,essv9840924,essv9840879,essv9840936,essv9840876,essv9840935,essv9840874,essv9840937,essv9840854,essv9840939,essv9840864,essv9840928,essv9840875,essv9840934,essv9840883,essv9840930,essv9840885,essv9840943,essv9840856,essv9840929,essv9840861,essv9840926,essv9840872,essv9840931,essv9840862,essv9840932,essv9840868,essv9840938,essv9840882,essv9840941,essv9840869,essv9840925,essv9840881,essv9840917,essv9840889,essv9840914,essv9840853,essv9840904,essv9840870,essv9840913,essv9840863,essv9840920,essv9840890,essv9840908,essv9840858,essv9840916,essv9840857,essv9840918,essv9840873,essv9840903,essv9840880,essv9840905,essv9840848,essv9840902,essv9840847,essv9840896,essv9840851,essv9840901,essv9840849,essv9840921,essv9840846,essv9840909,essv9840850,essv9840898,essv9840899,essv9840912,essv9840919,essv9840907,essv9840910,essv9840900,essv9840911,essv9840923,essv9840922,essv9840915,essv9840897,essv9840906 M 2504 0 108 "" HG00146,HG01075,HG01082,HG01108,HG01140,HG01269,HG01271,HG01360,HG01390,HG01443,HG01956,HG01958,HG02053,HG02337,HG02420,HG02455,HG02484,HG02489,HG02580,HG02583,HG02588,HG02620,HG02642,HG02648,HG02678,HG02772,HG02807,HG02851,HG02854,HG02879,HG02938,HG02968,HG02971,HG02973,HG03055,HG03085,HG03095,HG03112,HG03117,HG03120,HG03127,HG03129,HG03130,HG03162,HG03166,HG03169,HG03224,HG03270,HG03271,HG03297,HG03301,HG03303,HG03372,HG03428,HG03439,HG03442,HG03460,HG03499,HG03567,HG03697,NA18486,NA18488,NA18499,NA18505,NA18516,NA18517,NA18923,NA18939,NA19020,NA19028,NA19031,NA19093,NA19117,NA19130,NA19131,NA19138,NA19141,NA19146,NA19159,NA19175,NA19185,NA19247,NA19315,NA19317,NA19318,NA19327,NA19328,NA19351,NA19374,NA19376,NA19384,NA19390,NA19395,NA19429,NA19430,NA19435,NA19446,NA19449,NA19454,NA19456,NA19467,NA19474,NA19701,NA20126,NA20294,NA20348,NA20351,NA20356 nsv5828229 1 1443541 1445747 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454279,nssv17463031 M 914 0 0 "" nsv5876972 1 1443563 1445763 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356471 M 914 0 1 "" esv2659109 1 1443563 1445764 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6107643,essv5685136,essv5627421,essv6474698,essv5913103,essv5950686,essv5885089,essv6588406,essv5626254,essv6148352,essv6161076,essv6135295,essv5405437,essv5716610,essv6068180,essv6274829,essv6564617,essv5958348,essv6056791,essv6427354,essv6343375 M 1151 0 21 "" HG01075,HG01082,HG01108,HG01140,NA19130,NA19313,NA19315,NA19317,NA19371,NA19374,NA19376,NA19381,NA19384,NA19390,NA19395,NA19429,NA19444,NA19446,NA19449,NA19467,NA19701 nsv6326724 1 1443565 1445764 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052992 M 19652 0 1 "" nsv4047782 1 1443566 1445764 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848757 M 10847 0 1 "" nsv5420445 1 1443566 1445764 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901067 M 3202 0 1 "" nsv821809 1 1443968 1447519 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1428013 M 31 1 0 "" AK10 nsv821920 1 1443968 1463826 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440791 M 31 1 0 ATAD3A NA18969 nsv4038047 1 1446062 1452316 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961203 M 10847 1 0 ATAD3A esv3663857 1 1446186 1446186 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486675 M 20 1 0 "" nsv482157 1 1447555 1470064 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558518 M 1 1 0 ATAD3A KB1 esv3663926 1 1452214 1452214 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486737 M 20 1 0 ATAD3A nsv5828139 1 1455529 1469875 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457718 M 914 0 0 ATAD3A nsv5426255 1 1465268 1465342 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901080 M 3202 0 1 ATAD3A dgv25n152 1 1465909 1466230 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3525932,nsv3193594 M 9 0 4 ATAD3A HG00512,HG00514,NA19238,NA19239 nsv1074453 1 1465910 1466230 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767539 M 1 0 1 ATAD3A KWP1 nsv5582114 1 1465911 1466229 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061149 M 35 0 1 ATAD3A HG00512 nsv5885298 1 1465911 1466229 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359410 M 914 0 1 ATAD3A esv2658581 1 1465911 1466230 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5522114,essv6032109,essv5612794,essv5641125,essv5951132,essv6086549,essv5439542,essv6012078,essv6443605,essv6367525,essv5641262,essv6093191,essv5724642,essv6053094,essv5813001,essv5456443,essv5396313,essv5401002,essv5834945,essv5965280,essv6042582,essv5690141,essv5456023,essv6140657,essv6457568,essv6035940,essv5418392,essv5492724,essv6598371,essv6326756,essv5884375,essv6129291,essv6523508,essv6548233,essv6072390,essv5991250,essv6367867,essv5723953,essv5692049,essv5414131,essv6520422,essv6347709,essv6224876,essv5993762,essv6397483,essv5773997,essv6510252,essv5555363,essv6194183,essv5628085,essv5939453,essv5597594,essv6479552,essv5453253,essv5497478,essv6156669,essv6266096,essv6086199,essv6044419,essv5557211,essv6191601,essv6396485,essv5541808,essv6497970,essv6161424,essv5489541,essv5762497,essv5939784,essv6133414,essv5883171,essv5484376,essv6211568,essv5972124,essv5882887,essv6474611,essv5825216,essv5482830,essv6586974,essv6186717,essv6078561,essv6069039,essv6154276,essv6058176,essv5488378,essv6553516,essv6445387,essv5931672,essv6240991,essv5994443,essv5812123,essv5886508,essv6471708,essv6117756,essv6281476,essv5722394,essv6146300,essv5712435,essv5493577,essv6130279,essv5871753,essv5855205,essv5701080,essv6142004,essv5520380,essv5527150,essv6042587,essv6286765,essv5868543,essv6430631,essv5922774,essv6585173,essv6181341,essv6518871,essv5404027,essv5885037,essv5616806,essv5623987,essv6450209,essv6214095,essv5800780,essv5457645,essv5978467,essv6539627,essv5997694,essv5635976,essv6416002,essv6581596,essv5598870,essv5507419,essv5816004,essv6318757,essv5528890,essv6425893,essv6399190,essv5531638,essv5551173,essv5688132,essv6059203,essv6186597,essv5820972,essv5604347,essv5471316,essv6287869,essv6361569,essv5959211,essv5458146,essv5678946,essv5597132,essv5677732,essv6519435,essv5998119,essv5806292,essv6343716,essv5588497,essv6395439,essv5694863,essv5676860,essv6205353,essv5683825,essv6040829,essv5700240,essv6410581,essv6113627,essv6066088,essv5821996,essv5991070,essv5476828,essv6273412,essv5714389,essv5481540,essv6469356,essv5959060,essv6226627,essv5609533,essv6465710,essv6344023,essv6500668,essv5640187,essv5648702,essv5787953,essv5878788,essv5633943,essv6011613,essv6211165,essv5441861,essv6247281,essv6027434,essv5553146,essv5673467,essv5812650,essv6191951,essv6419027,essv5451520,essv5614655,essv6279475,essv5801413,essv5807425,essv6287490,essv5959326,essv5963869,essv6596805,essv5937129,essv6391429,essv5780437,essv6482893,essv5594774,essv6317076,essv6513074,essv5747726,essv5799072,essv5702197,essv6391818,essv5979075,essv5954013,essv6221054,essv5601026,essv6339707,essv6488077,essv6241924,essv5969045,essv5901561,essv6199770,essv5974677,essv6452456,essv6435646,essv6432023,essv5630193,essv5643959,essv6154431,essv5416971,essv6228720,essv6494184,essv5463872,essv5403407,essv5628239,essv6432025,essv6531665,essv6199429,essv6131969,essv6225800,essv5855505,essv5554792,essv6307412,essv5723921,essv6212988,essv5951084,essv6300044,essv5707419,essv6554091,essv5609173,essv5482099,essv6425592,essv5985570,essv5899920,essv6185820,essv6357829,essv5990101,essv5672669,essv6324178,essv5794862,essv5712611,essv6108372,essv5732240,essv6258489,essv5786024,essv6589722,essv5568689,essv6317091,essv5993427,essv6234765,essv5553769,essv6337906,essv5413690,essv6479147,essv6103904,essv5631905,essv6247479,essv6175357,essv6231944,essv6404248,essv5920966,essv6239221,essv5578213,essv6122795,essv5527698,essv5480416,essv5851382,essv5813678,essv6518177,essv5738072,essv6265122,essv6175237,essv6290555,essv6204344,essv5698039,essv5965350,essv5675590,essv6063579,essv6072748,essv6279719,essv5923966,essv5538350,essv5670867,essv5932490,essv6134604,essv5891209,essv6469707,essv5866453,essv6279148,essv6197313,essv5580450,essv6246072,essv6079796,essv5484338,essv5599977,essv6172914,essv5679637,essv5870848,essv5928241,essv6244691,essv5745074,essv5451411,essv5940742,essv5631465,essv6178089,essv5650338,essv5858092,essv5415672,essv5989514,essv5831383,essv5442733,essv6028335,essv5803216,essv6302686,essv6005572,essv5671787,essv5749533,essv5650442,essv6577184,essv5501254,essv5766335,essv6464835,essv5965335,essv6197366,essv6011467 M 1151 0 345 ATAD3A HG00114,HG00187,HG00239,HG00250,HG00259,HG00268,HG00281,HG00313,HG00318,HG00323,HG00329,HG00346,HG00353,HG00361,HG00375,HG00418,HG00419,HG00422,HG00437,HG00448,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00537,HG00542,HG00543,HG00556,HG00560,HG00577,HG00578,HG00581,HG00584,HG00589,HG00590,HG00595,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00625,HG00628,HG00629,HG00635,HG00650,HG00653,HG00656,HG00657,HG00671,HG00672,HG00684,HG00689,HG00690,HG00698,HG00701,HG00702,HG00705,HG00707,HG00708,HG00740,HG01055,HG01060,HG01066,HG01067,HG01069,HG01073,HG01075,HG01079,HG01082,HG01102,HG01108,HG01125,HG01140,HG01170,HG01171,HG01342,HG01378,HG01462,HG01488,HG01492,NA07051,NA12716,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18534,NA18536,NA18538,NA18542,NA18545,NA18548,NA18549,NA18550,NA18555,NA18559,NA18560,NA18561,NA18562,NA18563,NA18570,NA18571,NA18573,NA18576,NA18577,NA18592,NA18595,NA18599,NA18606,NA18608,NA18610,NA18612,NA18615,NA18616,NA18623,NA18632,NA18633,NA18636,NA18638,NA18853,NA18856,NA18858,NA18861,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18907,NA18908,NA18909,NA18912,NA18916,NA18917,NA18923,NA18924,NA18934,NA18940,NA18941,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18950,NA18951,NA18952,NA18953,NA18956,NA18959,NA18961,NA18963,NA18964,NA18965,NA18968,NA18972,NA18973,NA18974,NA18975,NA18976,NA18980,NA18981,NA18982,NA18983,NA18984,NA18988,NA18989,NA18999,NA19000,NA19002,NA19003,NA19005,NA19009,NA19010,NA19054,NA19057,NA19058,NA19060,NA19062,NA19064,NA19065,NA19066,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19085,NA19087,NA19088,NA19093,NA19098,NA19099,NA19102,NA19108,NA19114,NA19116,NA19119,NA19129,NA19130,NA19131,NA19137,NA19138,NA19144,NA19147,NA19153,NA19160,NA19171,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19204,NA19207,NA19209,NA19213,NA19223,NA19225,NA19235,NA19236,NA19238,NA19239,NA19247,NA19257,NA19311,NA19312,NA19313,NA19328,NA19332,NA19346,NA19350,NA19355,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19399,NA19401,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19437,NA19438,NA19440,NA19443,NA19445,NA19448,NA19449,NA19451,NA19452,NA19455,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19625,NA19663,NA19676,NA19682,NA19700,NA19701,NA19704,NA19711,NA19712,NA19720,NA19818,NA19819,NA19901,NA19916,NA19920,NA19921,NA20127,NA20276,NA20289,NA20294,NA20299,NA20341,NA20348,NA20815 nsv5981454 1 1465911 1466231 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521315 M 405 0 1 ATAD3A esv3549676 1 1465911 1466268 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9748423 M 767 0 1 ATAD3A nsv3319980 1 1465913 1466231 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14482899,nssv14491831,nssv14475723,nssv14490644 M 14 0 4 ATAD3A HG00268,HG00514,HG02059,NA19434 nsv4740497 1 1465918 1466238 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268680 M 25 0 1 ATAD3A nsv5957861 1 1465923 1465923 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350292 M 914 1 0 ATAD3A nsv5428033 1 1465927 1466230 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901082 M 3202 0 1 ATAD3A nsv6329066 1 1465927 1466230 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052391 M 19652 0 1 ATAD3A nsv5540902 1 1468115 1468158 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901084 M 3202 1 0 ATAD3A nsv5981456 1 1468268 1468328 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520807 M 405 0 1 ATAD3A nsv4319019 1 1468904 1469444 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789111 M 10847 0 0 ATAD3A esv3418946 1 1472989 1473987 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691939 M 185 1 0 TMEM240 NA19239 nsv1130940 1 1475300 1476100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980312,nssv3966616 M 2 0 2 TMEM240 KWS1,KWS2 nsv5584210 1 1475508 1475564 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061179 M 35 0 1 TMEM240 HG01114 nsv4046324 1 1476227 1476951 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849330 M 10847 0 1 "" nsv5411111 1 1477002 1477052 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901086 M 3202 1 0 "" nsv5423316 1 1477547 1479248 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901087 M 3202 0 1 SSU72 nsv3319986 1 1478995 1478995 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484215 M 14 1 0 SSU72 HG04217 esv3682739 1 1479007 1479106 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467541 M 20 0 1 SSU72 nsv4762514 1 1479018 1479018 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265660 M 25 1 0 SSU72 nsv3320450 1 1479056 1479056 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475575 M 14 1 0 SSU72 HG04217 nsv6047360 1 1479071 1479071 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527466 M 405 1 0 SSU72 nsv5566360 1 1479082 1479153 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061184 M 35 0 1 SSU72 HG02587 nsv3537935 1 1479105 1479105 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413463 M 9 1 0 SSU72 HG00514 nsv3938507 1 1479105 1479105 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191824 M 1 1 0 SSU72 HG002 nsv5618848 1 1479105 1479105 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061186,nssv17061185 M 35 2 0 SSU72 HG00731,HG03125 nsv2800880 1 1479106 1479106 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691388 M 2 1 0 SSU72 nsv3320639 1 1479106 1479106 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481992,nssv14491217,nssv14476114,nssv14483875,nssv14487853,nssv14483861,nssv14482526,nssv14488305,nssv14482386,nssv14479976 M 14 10 0 SSU72 CHM1,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HX1,NA19240,NA19434 esv1301718 1 1479107 1479107 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3821253 M 2 1 0 SSU72 HuRef nsv3538330 1 1479126 1479126 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440824,nssv14377635 M 9 2 0 SSU72 HG00733,NA19240 nsv4444227 1 1479175 1479175 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15768392 M 1 1 0 SSU72 nsv5422923 1 1479369 1480242 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901089 M 3202 0 1 SSU72 nsv4035425 1 1480415 1489068 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849337 M 10847 0 1 SSU72 nsv6326224 1 1480441 1489068 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052029 M 19652 0 1 SSU72 nsv6315828 1 1480482 1481157 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200506 M 19652 1 0 SSU72 nsv4042175 1 1480482 1481160 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961228 M 10847 1 0 SSU72 nsv6330810 1 1480927 1482284 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200507 M 19652 1 0 SSU72 nsv4767191 1 1482253 1482253 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16292183 M 25 1 0 SSU72 nsv5549941 1 1482283 1482283 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901090 M 3202 1 0 SSU72 nsv5620124 1 1482283 1482283 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061008 M 35 1 0 SSU72 HG00512 nsv5963111 1 1482283 1482283 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17369447 M 914 1 0 SSU72 nsv6057537 1 1482283 1482283 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529417 M 405 1 0 SSU72 nsv4537906 1 1482283 1482284 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027278 M 10847 1 0 SSU72 nsv3320216 1 1482284 1482284 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14475437,nssv14474754,nssv14481849 M 14 3 0 SSU72 HG00268,HG02106,HG04217 nsv5428839 1 1488182 1491539 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901092 M 3202 0 1 SSU72 nsv4040208 1 1488790 1489565 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849346 M 10847 0 1 SSU72 nsv6331676 1 1494602 1498781 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052107 M 19652 0 1 SSU72 nsv4036425 1 1495340 1514911 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961246 M 10847 1 0 SSU72 esv2675022 1 1495577 1495857 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5557225 M 1151 0 1 SSU72 NA18973 nsv472762 1 1496605 1496605 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015897 M 9 1 0 SSU72 NA18555 nsv5870197 1 1499244 1499307 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350336 M 914 0 1 SSU72 nsv5949800 1 1499576 1499576 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354752 M 914 1 0 SSU72 esv2760410 1 1500941 1687687 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7030523,essv7029523,essv7028745,essv7011854,essv7026299,essv7029301,essv7025188,essv7021854,essv7027301,essv7028968,essv7012966,essv7027968,essv7010743,essv7015188,essv7030301,essv7027190,essv7029634,essv7027857,essv7030190,essv7028301,essv7009632,essv7014077,essv7018521,essv7027523,essv7030634,essv7028412,essv7029745,essv7027634,essv7027745,essv7029967,essv7028079,essv7027412,essv7028856,essv7022965,essv7030412,essv7029190,essv7029412,essv7024077,essv7028190,essv7028523,essv7020743,essv7029856,essv7016299,essv7019632,essv7030079,essv7027079,essv7028634,essv7017410,essv7029079 M 1109 8 41 C1orf233,CDK11A,CDK11B,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B,SSU72 SW_0020,SW_0058,SW_0060,SW_0061,SW_0062,SW_0072,SW_0086,SW_0119,SW_0120,SW_0144,SW_0187,SW_0198,SW_0200,SW_0589,SW_0639,SW_0648,SW_0760,SW_0773,SW_0789,SW_0805,SW_0818,SW_0831,SW_0856,SW_1083,SW_1086,SW_1103,SW_1120,SW_1139,SW_1147,SW_1149,SW_1156,SW_1189,SW_1243,SW_1262,SW_1289,SW_1302,SW_1335,SW_1366,SW_1372,SW_1396,SW_1404,SW_1414,SW_1428,SW_1436,SW_1448,SW_1455,SW_1459,SW_1483,SW_1485 esv1010850 1 1501009 1501009 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3572228 M 3 1 0 SSU72 HuRef nsv3561568 1 1501010 1501010 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357227,nssv14357226,nssv14357225 M 9 3 0 SSU72 HG00512,NA19239,NA19240 nsv4444228 1 1501010 1501010 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15760006 M 1 1 0 SSU72 nsv5613949 1 1501010 1501010 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061711 M 35 1 0 SSU72 HG00731 nsv1125447 1 1501010 1501107 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983620 M 2 1 0 SSU72 KWS2 nsv6138635 1 1501010 1501107 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901094 M 3202 1 0 SSU72 nsv3065702 1 1501011 1501011 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034898 M 2 1 0 SSU72 CHM1 nsv4753777 1 1501049 1501049 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16259065 M 25 1 0 SSU72 nsv2800155 1 1501061 1501061 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677968 M 2 1 0 SSU72 nsv3320653 1 1501061 1501061 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482378,nssv14484743,nssv14490577,nssv14477789,nssv14483784,nssv14476442,nssv14472197,nssv14480948,nssv14476475,nssv14474911,nssv14481993,nssv14476166 M 14 12 0 SSU72 CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3051619 1 1501062 1501062 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14026910 M 2 1 0 SSU72 NA12878 nsv3925890 1 1501063 1501063 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191860 M 1 1 0 SSU72 HG002 nsv5948807 1 1501064 1501064 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17355519 M 914 1 0 SSU72 nsv6041010 1 1501064 1501064 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524027 M 405 1 0 SSU72 nsv3185539 1 1501064 1501160 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440825,nssv14384580,nssv14413464 M 9 0 0 SSU72 HG00514,HG00733,NA19240 nsv1160797 1 1501596 1737357 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026767 M 369 1 0 C1orf233,CDK11A,CDK11B,GNB1,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B,SSU72 nsv4041974 1 1504143 1507696 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961256 M 10847 1 0 SSU72 nsv6318747 1 1504281 1506380 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052290 M 19652 0 1 SSU72 dgv8n100 1 1504729 1672591 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011271,nsv1002038 M 11257 0 6 C1orf233,CDK11A,CDK11B,MIB2,MMP23A,MMP23B,SLC35E2,SLC35E2B,SSU72 nsv4568204 1 1507507 1507508 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026250 M 10847 1 0 SSU72 nsv4732672 1 1507906 1508038 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279442 M 25 0 1 SSU72 nsv5981654 1 1507919 1508079 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522962 M 405 0 1 SSU72 esv3664070 1 1508647 1508647 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486867 M 20 1 0 SSU72 dgv2n97 1 1510801 1687587 CNV deletion Lou_et_al_2014 25026903 SNP array nsv1155131,nsv1156357 M 131 0 9 C1orf233,CDK11A,CDK11B,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B dgv5n111 1 1510801 1754842 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nsv1160853,nsv1160837,nsv1160836 M 369 0 4 C1orf233,CDK11A,CDK11B,GNB1,MIB2,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B nsv5419914 1 1513823 1513897 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901096 M 3202 0 1 "" nsv5721065 1 1515934 1515934 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236571 M 3202 1 0 "" nsv5675666 1 1515948 1515948 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17223163 M 3202 1 0 "" nsv5728724 1 1517844 1517844 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17243093 M 3202 1 0 "" nsv6331580 1 1518337 1519966 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052755 M 19652 0 1 "" nsv4035213 1 1519121 1520990 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849365 M 10847 0 1 "" nsv5417530 1 1519173 1520097 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901097 M 3202 0 1 "" nsv5981546 1 1519322 1519622 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520234 M 405 0 1 "" nsv5420802 1 1519377 1520692 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901098 M 3202 0 1 "" nsv4049428 1 1519457 1520097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849375 M 10847 0 1 "" nsv6316629 1 1519491 1520908 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200946 M 19652 1 0 "" nsv5878412 1 1519508 1520126 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361191 M 914 0 1 "" esv3585005 1 1519512 1520127 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840958,essv9840959,essv9840949,essv9840947,essv9840948,essv9840951,essv9840956,essv9840954,essv9840957,essv9840950,essv9840955,essv9840952,essv9840953 M 2504 0 13 "" HG01241,HG02281,HG02315,HG02614,HG02860,HG02981,HG03118,HG03388,HG03391,HG03499,HG03567,NA19184,NA20294 nsv6323722 1 1519529 1520097 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053023 M 19652 0 1 "" nsv5873844 1 1519563 1519863 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354161 M 914 0 1 "" nsv6331441 1 1519581 1521180 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053025 M 19652 0 1 "" nsv5428173 1 1519672 1520087 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901099 M 3202 0 1 "" nsv6323554 1 1519701 1525008 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200947 M 19652 1 0 "" dgv9n166 1 1519703 1526682 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4045479,nsv4050771 M 10847 2 0 "" esv3664115 1 1520057 1520057 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486907 M 20 1 0 "" nsv4517557 1 1520076 1520833 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963419 M 10847 1 0 "" nsv5422447 1 1520753 1521920 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901100 M 3202 1 0 "" nsv6327033 1 1520980 1522109 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053058 M 19652 0 1 "" nsv6323636 1 1522131 1526911 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053446 M 19652 0 1 "" nsv6319932 1 1522581 1524780 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053454 M 19652 0 1 "" nsv4046879 1 1522590 1523027 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849401 M 10847 0 1 "" nsv5424288 1 1522747 1524670 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901105 M 3202 0 1 "" nsv6553441 1 1522827 1523490 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247784 M 19652 0 0 "" esv2677356 1 1522874 1524670 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5934228,essv6444599,essv6564666,essv6133147,essv6471016,essv5993482 M 1151 0 6 "" NA18871,NA19338,NA19382,NA19428,NA19457,NA19834 esv3585006 1 1522876 1524674 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840973,essv9840972,essv9840988,essv9840980,essv9840966,essv9840983,essv9840978,essv9840970,essv9840985,essv9840974,essv9840968,essv9840984,essv9840979,essv9840969,essv9840987,essv9840976,essv9840964,essv9840986,essv9840975,essv9840965,essv9840982,essv9840967,essv9840977,essv9840971,essv9840981,essv9840960,essv9840962,essv9840961,essv9840963 M 2504 0 29 "" HG01912,HG01958,HG02318,HG02420,HG02489,HG02944,HG03133,HG03162,HG03190,HG03198,HG03268,HG03300,HG03478,HG03583,NA18853,NA18871,NA19041,NA19172,NA19184,NA19210,NA19225,NA19319,NA19338,NA19428,NA19457,NA19834,NA20291,NA20348,NA20412 nsv4735337 1 1523376 1523464 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16291300 M 25 0 1 "" nsv5981419 1 1523377 1523535 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519635 M 405 0 1 "" nsv5414495 1 1525715 1527842 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901127 M 3202 0 1 "" nsv5981420 1 1525817 1526185 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536455 M 405 0 1 "" nsv5981885 1 1526090 1528135 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525092 M 405 0 1 "" nsv6330747 1 1526193 1527271 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053494 M 19652 0 1 "" nsv6315835 1 1526886 1550612 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200964 M 19652 1 0 C1orf233 nsv5422107 1 1527570 1528265 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901138 M 3202 0 1 "" nsv5427777 1 1527875 1528477 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901149 M 3202 0 1 "" nsv5881411 1 1527963 1528280 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356091 M 914 0 1 "" nsv6319377 1 1528105 1528422 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053504 M 19652 0 1 "" nsv6137869 1 1528128 1528414 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901159 M 3202 0 1 "" nsv5422860 1 1528325 1528720 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901170 M 3202 0 1 "" nsv5426032 1 1529694 1529769 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901181 M 3202 1 0 "" nsv5868691 1 1529811 1529882 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355097 M 914 0 1 "" nsv3541399 1 1530223 1530223 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413465 M 9 1 0 "" HG00514 nsv3226654 1 1530223 1532407 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14272849 M 9 1 0 "" HG00514 nsv5981552 1 1530244 1530300 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17529810 M 405 1 0 "" nsv6055442 1 1530254 1530254 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531493 M 405 1 0 "" nsv5981553 1 1530263 1530377 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17533202 M 405 1 0 "" nsv5879904 1 1530264 1530425 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363248 M 914 0 1 "" nsv6332750 1 1530283 1530955 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200968 M 19652 1 0 "" nsv6138666 1 1530290 1531244 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901187 M 3202 1 0 "" dgv12n106 1 1530300 1532700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1128582,nsv1139465 M 2 2 0 "" KWS1,KWS2 nsv1129453 1 1530407 1530493 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962906 M 2 1 0 "" KWS1 nsv3320478 1 1530454 1530454 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473417 M 14 1 0 "" HG00514 nsv5961505 1 1530461 1530461 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352480 M 914 1 0 "" nsv5424102 1 1530461 1530679 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902370 M 3202 1 0 "" nsv5873743 1 1530462 1530685 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357267 M 914 0 1 "" nsv5541775 1 1530473 1530502 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902371 M 3202 1 0 "" nsv5981480 1 1530480 1530559 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527958 M 405 0 1 "" nsv5870609 1 1530481 1530562 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350046 M 914 0 1 "" nsv6040681 1 1530493 1530493 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522232 M 405 1 0 "" nsv5614421 1 1530500 1530500 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060998 M 35 1 0 "" HG00512 nsv3320479 1 1530606 1530606 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476504,nssv14484726,nssv14475101 M 14 3 0 "" HG00514,HG02106,NA19434 nsv3320020 1 1530645 1530645 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488284,nssv14482737,nssv14476679 M 14 3 0 "" HG00514,HG02106,NA19434 nsv3320021 1 1530677 1530677 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478710,nssv14483999 M 14 2 0 "" HG02106,NA19434 nsv3320022 1 1530681 1530734 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476570 M 14 0 1 "" HG00514 nsv6047077 1 1530738 1530738 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533354 M 405 1 0 "" nsv4033803 1 1530911 1531396 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963458 M 10847 1 0 "" nsv6044595 1 1531043 1531043 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525595 M 405 1 0 "" nsv6058883 1 1531076 1531076 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520834 M 405 1 0 "" nsv5981481 1 1531090 1531160 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524069 M 405 0 1 "" nsv5568412 1 1531120 1531191 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060999 M 35 0 1 "" HG00512 nsv1120183 1 1531166 1531250 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960945 M 2 1 0 "" KWS1 nsv3320671 1 1531188 1531259 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489746,nssv14475598 M 14 0 2 "" HG00514,HG02106 nsv1074046 1 1531211 1531284 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772640 M 1 0 1 "" KWP1 nsv1145305 1 1531212 1531284 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982396 M 2 0 1 "" KWS1 nsv5981482 1 1531226 1531298 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524333 M 405 0 1 "" nsv5622687 1 1531242 1531242 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061000 M 35 1 0 "" HG03732 nsv6320309 1 1531242 1531650 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200969 M 19652 1 0 "" nsv6044007 1 1531250 1531250 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519899 M 405 1 0 "" nsv1146684 1 1531277 1531343 CNV deletion John_et_al_2014 26484159 Sequencing nssv3995837 M 1 0 1 "" KWB1 nsv1124151 1 1531279 1531377 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975464 M 2 0 1 "" KWS1 nsv5874510 1 1531400 1531649 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350671 M 914 0 1 "" nsv6043271 1 1531411 1531411 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528853 M 405 1 0 "" nsv4052068 1 1531441 1531650 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850568 M 10847 0 1 "" nsv6043487 1 1531685 1531685 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526322 M 405 1 0 "" nsv4046643 1 1532169 1532237 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963469 M 10847 1 0 "" nsv4044142 1 1532860 1532914 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850576 M 10847 0 1 "" nsv3215093 1 1532926 1543353 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260200,nssv14260198,nssv14260199 M 9 3 0 C1orf233 HG00731,NA19238,NA19239 nsv1073621 1 1534999 1535600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762015 M 1 0 1 C1orf233 KWP1 nsv1136056 1 1535100 1535700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989661 M 2 0 1 C1orf233 KWS2 nsv6138869 1 1540740 1540834 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902372 M 3202 1 0 "" nsv3321106 1 1540841 1540920 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472228 M 14 0 1 "" NA12878 esv998174 1 1540850 1541970 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586347 M 3 1 0 "" HuRef nsv5618605 1 1540896 1540896 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061026 M 35 1 0 "" HG00731 nsv2800897 1 1540897 1540897 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681696 M 2 1 0 "" nsv3320672 1 1540897 1540897 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487495,nssv14473002,nssv14487864,nssv14476695,nssv14490499,nssv14472774,nssv14476732,nssv14490640 M 14 8 0 "" CHM1,HG00268,HG00733,HG02059,HG02106,HG02818,NA19240,NA19434 nsv5568322 1 1540902 1540961 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061027 M 35 0 1 "" NA24385 nsv3538882 1 1540904 1540904 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387891 M 9 1 0 "" NA19240 nsv3539173 1 1540908 1540908 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440826 M 9 1 0 "" HG00733 nsv5981888 1 1540908 1540976 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527947 M 405 0 1 "" nsv3934927 1 1540923 1540983 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181381 M 1 0 1 "" HG002 esv23829 1 1540930 1541970 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15071 M 40 0 3 "" NA12006,NA12878,NA18916 nsv6046066 1 1540931 1540931 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522569 M 405 1 0 "" esv3667469 1 1540941 1541593 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489926 M 20 0 0 "" esv2664117 1 1540947 1541600 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5565288,essv6246700,essv6285256,essv6222802,essv5732359,essv5732358,essv5826421,essv5691331,essv6574638,essv5415315,essv5661906,essv6200524,essv6215815,essv6407996,essv6205705,essv5526959,essv5449664,essv5923859,essv5527257,essv5766633,essv5530409,essv5872095,essv6532687,essv5517798,essv5828149,essv6453826,essv6255187,essv5918885,essv6301960,essv6261630,essv5624349,essv5671411,essv6301888,essv5998151,essv5966263,essv5984908,essv6084310,essv5717982,essv6205041,essv5842142,essv5451145,essv5979406,essv5498105,essv6488100,essv5931089,essv5792790,essv5409593,essv6316405,essv5401529,essv5464342,essv6139546,essv5622631,essv6282969 M 1151 0 53 "" HG00100,HG00118,HG00131,HG00160,HG00187,HG00232,HG00251,HG00268,HG00269,HG00310,HG00312,HG00320,HG00329,HG00344,HG00372,HG00436,HG00613,HG00640,HG00734,HG00737,HG01069,HG01070,HG01073,HG01095,HG01101,HG01107,HG01125,HG01133,HG01365,HG01390,HG01441,HG01515,HG01521,NA11829,NA11830,NA11930,NA11933,NA12043,NA12347,NA12748,NA18519,NA18593,NA18637,NA18987,NA19434,NA19443,NA20340,NA20344,NA20516,NA20530,NA20539,NA20769,NA20800 dgv35n54 1 1540957 1541589 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545012,nsv545011 M 17421 2 0 "" dgv36n54 1 1540957 1541872 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545013,nsv545015,nsv545014,nsv545016 M 17421 5 0 "" nsv3320025 1 1540976 1540976 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486578,nssv14482003 M 14 2 0 "" HG02818,NA19434 nsv5879479 1 1540998 1541165 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17364224 M 914 1 0 "" nsv5616608 1 1541022 1541022 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061028 M 35 1 0 "" HG00731 nsv3321107 1 1541063 1541063 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484044 M 14 1 0 "" HG02818 nsv3320026 1 1541068 1541068 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480148 M 14 1 0 "" NA19434 nsv6042646 1 1541078 1541078 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521184 M 405 1 0 "" nsv3530961 1 1541087 1541087 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381575,nssv14440827 M 9 2 0 "" HG00733,NA19240 nsv2801045 1 1541108 1541108 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682410 M 2 1 0 "" nsv3321108 1 1541295 1541295 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490637 M 14 1 0 "" NA12878 nsv3320028 1 1541333 1541407 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490698 M 14 0 1 "" NA12878 nsv5613444 1 1541764 1541764 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061029 M 35 1 0 "" HG02011 nsv4458953 1 1542220 1542221 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026333 M 10847 1 0 "" nsv4049302 1 1544261 1545199 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850594 M 10847 0 1 "" nsv545017 1 1550702 1595198 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708604 M 17421 0 1 CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B nsv1074054 1 1551199 1551700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762868 M 1 0 1 MIB2 KWP1 nsv822031 1 1552632 1553336 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434858 M 31 0 1 MIB2 NA18942 esv3575582 1 1559466 1652775 CNV gain Uddin_et_al_2014 25503493 SNP array essv9783310 M 873 1 0 CDK11A,CDK11B,MIB2,MMP23A,MMP23B,SLC35E2B 401443JK esv2661270 1 1560745 1571392 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5539470,essv6505176,essv5928230,essv6113138,essv6335638,essv6217076,essv6363404,essv6260213,essv6010091,essv5413048,essv6312198,essv6059373,essv5573107,essv6414757,essv6569672,essv5609560,essv6475633,essv5625476,essv6130761,essv5937538,essv6071888,essv6485645,essv5653921,essv6328148,essv6141404,essv5712261,essv6571513,essv5714079,essv6126898,essv5468288,essv5815876,essv6412490,essv6126633,essv5605080,essv6507928,essv6342848,essv5975210,essv5422893,essv6211219,essv6182156,essv5791495,essv5786512,essv5395845,essv5839359,essv5475531,essv5920723,essv5845328,essv6489635,essv5665738,essv5639379,essv5426813,essv6021583,essv6468817,essv5984077,essv5909524,essv5738802,essv5603865,essv5485712,essv5858849,essv6488862,essv6334615,essv6315048,essv5850341,essv5789412,essv6428230,essv5858500,essv5619505,essv6184775,essv6036632,essv5597414,essv6261109,essv5613721,essv5824569,essv6022491,essv6548334,essv5643096,essv5653363,essv6099313,essv6249390,essv5949761,essv5760634,essv5530709,essv6263804,essv5954824,essv5593315,essv5628348 M 1151 0 86 CDK11B,MIB2,MMP23A,MMP23B HG00403,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00560,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00628,HG00629,HG00634,HG00635,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708 nsv5567208 1 1562818 1562868 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061493 M 35 0 1 MIB2 HG00732 nsv3193691 1 1562818 1562869 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355272,nssv14355273 M 9 0 2 MIB2 NA19239,NA19240 nsv3320688 1 1562819 1562869 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487899 M 14 0 1 MIB2 NA19240 nsv3173622 1 1562819 1562870 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14403576 M 9 0 0 MIB2 NA19240 nsv5981571 1 1562847 1562900 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529180 M 405 0 1 MIB2 nsv4742866 1 1562850 1562902 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16264940 M 25 0 1 MIB2 esv2659399 1 1564645 1568392 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5437332,essv6498815,essv5825844,essv6392787,essv6445395,essv6398734,essv5447867,essv6130371,essv6122711,essv5792798,essv6052102,essv5603576,essv5456241,essv6445131,essv6543940,essv6130105,essv6498962,essv5576454,essv6335420,essv6489895,essv5480951,essv6583165,essv5826361,essv5917107,essv5475895,essv6077960,essv6043598,essv6216510,essv5844422,essv5970937,essv5903313,essv5751221,essv5777807,essv6185128,essv6344659,essv5555449,essv6325181,essv6210050,essv5502383,essv6198417,essv6171576,essv5967186,essv6594591,essv5764969,essv5788822,essv6068528,essv6334883,essv5910205,essv5971515,essv6365130,essv5770643,essv6451693,essv5973783,essv5789042,essv6531938,essv6527817,essv5679080,essv5730259,essv5555203,essv5430682,essv6008653,essv5814571,essv5640105,essv5563905,essv5501015,essv6584669,essv5938443,essv5909662,essv5994453,essv5552407,essv5792913,essv6256437,essv6175240,essv5932031,essv5840257,essv6373554,essv6594060,essv5608365,essv5659326,essv5966500,essv5645061,essv5412961,essv6214922,essv5792291,essv6547669,essv5906768,essv6421253,essv6019147,essv6176711,essv5504308,essv5799184,essv5992909,essv6316185,essv6468550,essv5922663,essv6403318,essv6261648,essv6105270,essv5447705,essv6182143,essv5676911,essv5947235,essv5845711,essv5607117,essv5975899,essv6416354,essv5975812,essv6271528,essv6210581,essv6051974,essv5505835,essv6299341,essv5847408,essv5750344,essv5556717,essv6483495,essv6363277,essv5597251,essv5744271,essv5838204,essv6057704,essv5564875,essv6057050,essv6540194,essv6062074,essv6014074,essv6162221,essv5438654,essv6506220,essv5484770 M 1151 0 130 MIB2,MMP23A,MMP23B HG00106,HG00108,HG00111,HG00114,HG00116,HG00117,HG00118,HG00119,HG00120,HG00122,HG00123,HG00124,HG00125,HG00126,HG00131,HG00136,HG00137,HG00138,HG00139,HG00140,HG00146,HG00148,HG00149,HG00150,HG00152,HG00154,HG00155,HG00156,HG00157,HG00158,HG00159,HG00160,HG00171,HG00174,HG00176,HG00177,HG00178,HG00180,HG00181,HG00182,HG00183,HG00185,HG00186,HG00187,HG00189,HG00190,HG00231,HG00232,HG00233,HG00236,HG00237,HG00239,HG00242,HG00243,HG00244,HG00245,HG00246,HG00247,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00260,HG00261,HG00262,HG00263,HG00264,HG00265,HG00266,HG00267,HG00268,HG00269,HG00270,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00309,HG00310,HG00312,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00329,HG00330,HG00331,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00357,HG00361,HG00366,HG00367,HG00368,HG00372,HG00375,HG00377,HG01334 nsv1074993 1 1564999 1566500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764195 M 1 0 1 MIB2 KWP1 nsv1136057 1 1565000 1565700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989662 M 2 0 1 MIB2 KWS2 nsv5578779 1 1567735 1631049 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061504 M 35 0 1 CDK11B,MMP23A,MMP23B,SLC35E2B NA19238 esv27786 1 1567881 1683706 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17198 M 40 1 0 CDK11A,CDK11B,MMP23A,MMP23B,NADK,SLC35E2,SLC35E2B NA12828 nsv5828281 1 1570911 1573388 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457051,nssv17465928 M 914 0 0 CDK11B nsv1118425 1 1571000 1583600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958931 M 2 1 0 CDK11B KWS1 nsv6316167 1 1571263 1583561 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201907 M 19652 1 0 CDK11B nsv6138511 1 1571350 1577349 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902390 M 3202 1 0 CDK11B nsv6138825 1 1571350 1589438 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902400 M 3202 1 0 CDK11B nsv5415542 1 1571350 1631427 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902382 M 3202 0 1 CDK11B,MMP23A,SLC35E2B dgv25n223 1 1572452 1648779 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6333486,nsv6330038,nsv6332665 M 19652 3 0 CDK11A,CDK11B,MMP23A,SLC35E2B nsv545018 1 1573861 1619541 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708605 M 17421 0 1 CDK11B,SLC35E2B nsv1073627 1 1574099 1575400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764549 M 1 0 1 CDK11B KWP1 nsv6318612 1 1574163 1575461 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052640 M 19652 0 1 CDK11B nsv3197772 1 1574270 1574552 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356296,nssv14356295 M 9 0 2 CDK11B HG00512,NA19240 nsv6334646 1 1574962 1582361 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201909 M 19652 1 0 CDK11B dgv26n223 1 1575162 1577961 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6321771,nsv6323626 M 19652 2 0 CDK11B nsv1075361 1 1575399 1584500 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762885 M 1 1 0 CDK11B KWP1 dgv27n223 1 1575762 1591861 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6318430,nsv6332629 M 19652 2 0 CDK11B nsv1139466 1 1575800 1584500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977053 M 2 1 0 CDK11B KWS2 nsv6138509 1 1576361 1583349 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902409 M 3202 1 0 CDK11B nsv5725586 1 1578577 1578577 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17241990 M 3202 1 0 CDK11B nsv4561006 1 1578577 1578578 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027972 M 10847 1 0 CDK11B nsv4570767 1 1578589 1578590 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026903 M 10847 1 0 CDK11B esv3390461 1 1581089 1583487 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691995 M 185 1 0 CDK11B NA12878 esv3585007 1 1582548 1645946 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840990,essv9840989 M 2504 0 2 CDK11A,CDK11B,MMP23A,SLC35E2B HG01806,HG03634 nsv4044105 1 1583000 1592850 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963522 M 10847 1 0 CDK11B dgv2e199 1 1583664 1653329 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2659357,esv2670087 M 1151 0 3 CDK11A,CDK11B,MMP23A,SLC35E2B HG01354,NA12400,NA18982 nsv4761657 1 1584520 1584520 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16285259 M 25 1 0 CDK11B esv3550788 1 1584529 1657787 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9749535 M 767 0 1 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B nsv3934712 1 1584541 1584541 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191926,nssv15191897 M 1 1 0 CDK11B HG002 esv1336011 1 1584546 1584546 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4160103 M 2 1 0 CDK11B HuRef nsv4742597 1 1584766 1648358 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270034 M 25 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B dgv3n67 1 1585374 1667157 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv822142,nsv822253,nsv822364 M 31 3 0 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B NA18542,NA18566,NA18582 nsv4459152 1 1586603 1586604 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026991 M 10847 1 0 CDK11B nsv5576883 1 1587117 1587978 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061573 M 35 0 1 CDK11B HG00171 nsv6318983 1 1587255 1595139 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201937 M 19652 1 0 CDK11B,SLC35E2B nsv6138132 1 1587438 1592461 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902414 M 3202 1 0 CDK11B nsv3116793 1 1587504 1648832 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nssv14092243 M 467 1 0 CDK11A,CDK11B,MMP23A,SLC35E2B sample120 nsv4534192 1 1588035 1588036 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027084 M 10847 1 0 CDK11B nsv947410 1 1588534 1595266 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2764181,nssv2759096,nssv2766296,nssv2765500,nssv2763764,nssv2761730,nssv2758644,nssv2765284,nssv2760684,nssv2762239 M 97 9 0 CDK11B,SLC35E2B HGDP00456,HGDP00521,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5675313 1 1588539 1588539 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17221374 M 3202 1 0 CDK11B nsv4049421 1 1588600 1634000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963528 M 10847 1 0 CDK11B,MMP23A,SLC35E2B nsv5422494 1 1591449 1622439 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902415 M 3202 0 1 CDK11B,SLC35E2B nsv5882725 1 1591846 1592213 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351541 M 914 0 1 CDK11B nsv3208254 1 1591846 1592215 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358242 M 9 0 1 CDK11B NA19239 nsv5981732 1 1591992 1592645 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517650 M 405 0 1 CDK11B nsv6323732 1 1592005 1657909 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052860 M 19652 0 1 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B nsv5613469 1 1592192 1592192 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061065 M 35 1 0 CDK11B HG03065 nsv6052311 1 1592223 1592223 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531323 M 405 1 0 CDK11B dgv10n166 1 1592521 1625491 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4032883,nsv4517775 M 10847 0 2 CDK11B,SLC35E2B nsv3202321 1 1593661 1595304 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358876,nssv14358877 M 9 0 2 CDK11B,SLC35E2B HG00732,HG00733 nsv3114221 1 1594222 1652871 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14088279 M 467 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B sample235 nsv950516 1 1594601 1647400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997170 M 1 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B BILGI_BIOE dgv37n54 1 1595198 1627987 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545023,nsv545019,nsv545025,nsv545024 M 17421 0 4 CDK11B,SLC35E2B dgv38n54 1 1595198 1644908 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545021,nsv545020 M 17421 3 0 CDK11A,CDK11B,MMP23A,SLC35E2B esv3585008 1 1595368 1612441 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9840999,essv9840998,essv9840994,essv9840997,essv9840996,essv9840991,essv9840995,essv9840992,essv9840993 M 2504 0 9 CDK11B,SLC35E2B HG00320,HG01806,HG01840,HG01892,HG02236,HG02399,HG03611,HG03634,NA19327 esv3585009 1 1595368 1612441 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841023,essv9841009,essv9841022,essv9841015,essv9841024,essv9841011,essv9841021,essv9841001,essv9841016,essv9841019,essv9841000,essv9841013,essv9841020,essv9841012,essv9841018,essv9841010,essv9841017,essv9841014,essv9841006,essv9841005,essv9841002,essv9841003,essv9841007,essv9841008,essv9841004 M 2504 25 0 CDK11B,SLC35E2B HG00116,HG00237,HG00608,HG00614,HG00641,HG00766,HG01174,HG01204,HG01577,HG01801,HG01810,HG01812,HG01878,HG02010,HG02052,HG02190,HG02224,HG03833,HG03885,NA18542,NA18566,NA18582,NA19723,NA20819,NA20866 nsv5828393 1 1595935 1600300 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463032,nssv17451992 M 914 0 0 CDK11B,SLC35E2B nsv6327161 1 1596240 1641139 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201955 M 19652 1 0 CDK11A,CDK11B,MMP23A,SLC35E2B nsv545022 1 1597020 1615348 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708610 M 17421 0 1 CDK11B,SLC35E2B nsv5424627 1 1598022 1598583 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902418 M 3202 0 1 CDK11B,SLC35E2B nsv5868328 1 1598389 1598696 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364787 M 914 0 1 CDK11B,SLC35E2B nsv5573585 1 1598413 1598579 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061295 M 35 0 1 CDK11B,SLC35E2B HG00731 nsv5876235 1 1598413 1598579 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360401 M 914 0 1 CDK11B,SLC35E2B esv2677252 1 1598413 1598580 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5918120,essv6583777,essv5751080,essv6219021,essv6144567,essv6045526,essv5848961,essv5452041,essv6089090,essv6455345,essv5909153,essv5490309,essv6304603,essv6082461,essv5995956,essv5572281,essv5931039,essv6441883,essv6127826,essv6245168,essv6055625,essv6468785,essv6583639,essv6592928,essv5778641,essv5443214,essv6160111,essv5873431,essv5857413,essv5824870,essv6245122,essv6029517,essv5532300,essv6477385,essv6511413,essv6255171,essv5401685,essv5680585,essv6488545,essv6264563,essv5432871,essv5509573,essv5416958,essv5637380,essv6174363,essv6354946,essv5890984,essv6121292,essv6247874,essv5607350,essv6076421,essv6100264,essv5869212,essv6097410,essv5999000,essv6587828,essv5671807,essv5435077,essv6388925,essv6457687,essv5778790,essv5621469,essv5730167,essv6528908,essv5517953,essv6443823,essv6028094,essv5457314,essv5632389,essv6003771,essv5550248,essv5737014,essv6463171,essv5528195,essv6300192,essv6520103,essv5865553,essv6399211,essv5491948,essv5799562,essv5855555,essv5609013,essv5517074,essv6298538,essv6049037,essv6259863,essv5592079,essv5690915,essv6171148,essv6067300,essv5796075,essv6162325,essv6480235,essv5755734,essv5570846,essv6063495,essv5795485,essv5741004,essv5472448,essv5415954,essv5726476,essv5560038,essv5838836,essv5742636,essv6426837,essv6294300,essv5803001,essv5752383,essv5983653,essv6143736,essv5411981,essv6195379,essv5587767,essv6505025,essv5753638,essv6009097,essv5949132,essv5611984,essv6576524,essv5551605,essv5585639,essv6476219,essv5627193,essv5971449,essv6374888,essv5926739,essv6362748,essv5799767,essv6360176,essv6031567,essv6280940,essv5913600,essv5509514,essv5842247,essv5465702,essv5798784,essv5983326,essv5443804,essv6080540,essv5454282,essv5540251,essv5902254,essv6384137,essv6144633,essv5519389,essv5664321,essv6227801,essv6377747,essv6219210,essv6577219,essv5611680,essv6534746,essv6256174,essv5595889,essv6078545,essv5918816,essv6391091,essv5719674,essv6548485,essv6085025,essv5510878,essv5396411,essv6523303,essv5674970,essv5471351,essv5711296,essv5715661,essv6530838,essv5641442,essv5814999,essv6089120,essv6402388,essv6154489,essv5670715,essv5455494,essv6338309,essv6207868,essv5681930,essv5639604,essv6224571,essv6163450,essv6121546,essv5875323,essv5796167,essv6040088,essv6579236,essv6377898,essv5841126,essv5758590,essv6378933,essv5511278,essv6064067,essv6579480,essv5769689,essv5827810,essv5701510,essv5397563,essv5558810,essv6280162,essv6010868,essv5669363,essv5967632,essv6189725,essv6486017,essv6359965,essv5448907,essv5783705,essv5682903,essv6363966,essv5570830,essv6466279,essv5580002,essv5945642,essv6253254,essv6517435,essv5794898,essv6582422,essv5624676,essv5554245,essv6127498,essv6432484,essv6259259,essv6079747,essv5714263,essv6551932,essv6280590,essv5800608,essv5813169,essv6148996,essv5507268,essv6241989,essv6183688,essv5729317,essv5824439,essv6210325,essv6253580,essv6326214,essv5660437,essv5448062,essv6407375,essv5576928,essv5655572,essv5713226,essv6380279,essv6163516,essv5998608,essv5686758,essv6488614,essv5560566,essv6496619,essv5743890,essv6518958,essv6037174,essv6475988,essv5465043,essv6044604,essv6111969,essv6308867,essv6019252,essv5958664,essv6560113,essv6481848,essv5785569,essv6173906,essv5908627,essv5922942,essv6461434,essv6573562,essv6210597,essv6352849,essv5999698,essv6468856,essv6127630,essv5913493,essv5472324,essv6348733,essv6237717,essv5530827,essv5881611,essv5852832,essv6544194,essv6059393,essv6131270,essv5512851,essv6357595,essv6033098,essv5818662,essv6303979,essv6506618,essv6000476,essv6469104,essv5965909,essv5856373,essv6369913,essv5663765,essv6145920,essv5453799,essv6063509,essv6351801,essv5990978,essv5680170,essv6475010,essv5525175,essv5669268,essv6579272,essv6386927,essv5598338,essv5971409,essv5728695,essv5480228,essv6561401,essv6059269,essv6458089,essv5459712,essv5719551,essv6063237,essv6484789,essv5471357,essv5724902,essv5414259,essv6531138,essv6024126,essv5465085,essv6353719,essv6547015,essv5555326,essv5524858,essv5505868,essv5505495,essv5955412,essv6094569,essv6524424,essv5597038,essv6070975,essv5952055,essv5709883,essv5787293,essv6228690,essv6196751,essv5974341,essv5447734,essv6306839,essv5779054,essv6492092,essv5780450,essv5495344,essv5685989,essv6518579,essv6249825,essv6119852,essv5850184,essv5806527,essv6142179,essv5816063,essv5410628,essv6275018,essv6277620,essv6523892,essv6096703,essv6101026,essv6283756,essv5594143,essv6534451,essv6325084,essv5876341,essv5423424,essv6506144,essv5998842,essv6421976,essv6507581,essv6582034,essv5503479,essv5964151,essv5406360,essv5586488,essv6057941,essv6503940,essv6134637,essv6311986,essv5636269,essv5706799,essv6120255,essv6454923,essv5466018,essv6329825,essv6235955,essv5675001,essv6393332,essv5789544,essv6092574,essv5861386,essv5612605,essv5824248,essv5526789,essv5521618,essv5727829,essv6126272,essv6466973,essv6254951,essv6483119,essv5754690,essv5703175,essv5922773,essv6439886,essv5577638,essv5974237,essv5630121,essv6327136,essv5808589,essv6401653,essv5652332,essv6547938,essv5725166,essv6110359,essv5625120,essv5677015,essv5414933,essv6385494,essv5977523,essv5517949,essv6201245,essv6162859,essv6212542,essv5882292,essv6072716,essv6221827,essv5979575,essv5817169,essv6513512,essv5906954,essv6231956,essv5732216,essv5796712,essv6452841,essv5629615,essv5396149,essv6205800,essv6533658,essv6112644,essv5895978,essv5829153,essv6425099,essv5659577,essv5598186,essv5994378,essv5539922,essv5677697,essv6167559 M 1151 0 448 CDK11B,SLC35E2B HG00096,HG00098,HG00100,HG00103,HG00106,HG00108,HG00111,HG00112,HG00114,HG00115,HG00116,HG00117,HG00118,HG00119,HG00120,HG00123,HG00124,HG00125,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00139,HG00140,HG00141,HG00142,HG00143,HG00144,HG00146,HG00148,HG00149,HG00150,HG00151,HG00152,HG00154,HG00155,HG00156,HG00157,HG00158,HG00159,HG00160,HG00171,HG00173,HG00174,HG00176,HG00177,HG00178,HG00179,HG00180,HG00181,HG00182,HG00185,HG00186,HG00187,HG00188,HG00189,HG00190,HG00232,HG00233,HG00236,HG00237,HG00239,HG00242,HG00243,HG00244,HG00245,HG00246,HG00247,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00260,HG00261,HG00262,HG00263,HG00264,HG00265,HG00266,HG00267,HG00268,HG00269,HG00270,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00306,HG00308,HG00309,HG00310,HG00312,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00329,HG00330,HG00331,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00357,HG00361,HG00366,HG00367,HG00368,HG00369,HG00372,HG00373,HG00375,HG00377,HG00418,HG00419,HG00422,HG00428,HG00436,HG00437,HG00442,HG00443,HG00449,HG00463,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00531,HG00536,HG00537,HG00542,HG00543,HG00553,HG00554,HG00581,HG00583,HG00584,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00640,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00684,HG00689,HG00692,HG00693,HG00699,HG00704,HG00705,HG00707,HG00708,HG00736,HG00740,HG01052,HG01055,HG01060,HG01066,HG01067,HG01069,HG01070,HG01072,HG01073,HG01079,HG01080,HG01082,HG01095,HG01101,HG01102,HG01107,HG01108,HG01124,HG01125,HG01134,HG01136,HG01137,HG01140,HG01148,HG01170,HG01171,HG01173,HG01174,HG01187,HG01188,HG01250,HG01251,HG01253,HG01334,HG01350,HG01351,HG01353,HG01356,HG01360,HG01365,HG01366,HG01374,HG01375,HG01377,HG01383,HG01384,HG01389,HG01390,HG01455,HG01456,HG01462,HG01492,HG01515,NA07347,NA12154,NA12275,NA12342,NA12761,NA18499,NA18519,NA18520,NA18530,NA18534,NA18536,NA18542,NA18543,NA18544,NA18548,NA18549,NA18557,NA18559,NA18577,NA18582,NA18593,NA18595,NA18596,NA18597,NA18602,NA18606,NA18610,NA18613,NA18616,NA18617,NA18619,NA18622,NA18623,NA18632,NA18635,NA18636,NA18637,NA18933,NA18934,NA18963,NA18977,NA19000,NA19009,NA19072,NA19074,NA19082,NA19083,NA19084,NA19087,NA19223,NA19311,NA19312,NA19313,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19327,NA19328,NA19331,NA19332,NA19334,NA19338,NA19346,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19453,NA19455,NA19456,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19700,NA19701,NA19703,NA19704,NA19707,NA19711,NA19712,NA19717,NA19749,NA19756,NA19759,NA19770,NA19774,NA19783,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19904,NA19908,NA19909,NA19914,NA19916,NA19917,NA19920,NA19921,NA19982,NA19985,NA20126,NA20127,NA20276,NA20278,NA20281,NA20282,NA20287,NA20289,NA20291,NA20294,NA20296,NA20314,NA20317,NA20322,NA20332,NA20334,NA20336,NA20340,NA20341,NA20342,NA20344,NA20346,NA20348,NA20356,NA20506,NA20586,NA20819 nsv3525112 1 1598413 1598580 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360496,nssv14360492,nssv14360494,nssv14360497,nssv14360495,nssv14360493,nssv14360491 M 9 0 7 CDK11B,SLC35E2B HG00513,HG00514,HG00731,HG00732,HG00733,NA19239,NA19240 nsv3942824 1 1598413 1598580 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182249 M 1 0 1 CDK11B,SLC35E2B HG002 nsv4449249 1 1598413 1598580 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15765417 M 1 0 1 CDK11B,SLC35E2B nsv5981676 1 1598413 1598580 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529362 M 405 0 1 CDK11B,SLC35E2B esv3682962 1 1598413 1598581 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467742 M 20 0 1 CDK11B,SLC35E2B esv3551899 1 1598413 1598601 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9750646 M 767 0 1 CDK11B,SLC35E2B nsv3189021 1 1598414 1598581 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14458610,nssv14430653,nssv14403670 M 9 0 3 CDK11B,SLC35E2B HG00514,HG00733,NA19240 nsv2800815 1 1598415 1598581 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13692812 M 2 0 1 CDK11B,SLC35E2B nsv3321337 1 1598415 1598581 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14476483,nssv14476023,nssv14491757,nssv14487343,nssv14481126,nssv14472790,nssv14484772,nssv14476671,nssv14489280,nssv14490943,nssv14482071,nssv14472126 M 14 0 12 CDK11B,SLC35E2B CHM1,HG00268,HG00514,HG00733,HG01352,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4741382 1 1598420 1598586 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16290159 M 25 0 1 CDK11B,SLC35E2B nsv3047576 1 1598427 1598593 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14025152 M 2 0 1 CDK11B,SLC35E2B NA12878 esv1758309 1 1598431 1598598 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3827771 M 2 0 1 CDK11B,SLC35E2B HuRef nsv5428427 1 1598449 1598573 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902429 M 3202 0 1 CDK11B,SLC35E2B nsv5828519 1 1599369 1604745 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451912,nssv17455477 M 914 0 0 CDK11B,SLC35E2B nsv6329179 1 1601477 1603226 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053539 M 19652 0 1 CDK11B,SLC35E2B esv3585010 1 1601719 1682577 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841027,essv9841026,essv9841025 M 2504 0 3 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B HG02700,HG03858,NA19443 nsv545026 1 1602787 1638005 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708614 M 17421 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B nsv945745 1 1603369 1605663 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751645,nssv1751722,nssv1750719,nssv1751706,nssv1751652,nssv1749115,nssv1751644,nssv1749114,nssv1751651,nssv1751724,nssv1749112,nssv1751687,nssv1751655,nssv1751689,nssv1749109,nssv1751713,nssv1750717,nssv1751723,nssv1749110,nssv1751683,nssv1751670,nssv1749120,nssv1751731,nssv1751715,nssv1751674,nssv1751710,nssv1751672,nssv1751685,nssv1751648,nssv1749119,nssv1751669,nssv1751694,nssv1751727,nssv1751701,nssv1751671,nssv1751716,nssv1751650,nssv1751703,nssv1751649,nssv1751699,nssv1751660,nssv1751718,nssv1751726,nssv1751691,nssv1751654,nssv1751700,nssv1751661,nssv1749122,nssv1751647,nssv1751696,nssv1751680,nssv1751717,nssv1751646,nssv1751705,nssv1751658,nssv1749117,nssv1751676,nssv1751720,nssv1751662,nssv1751698,nssv1749113,nssv1751707,nssv1751679,nssv1751688,nssv1751729,nssv1751690,nssv1751677,nssv1751695,nssv1751665,nssv1749118,nssv1751667,nssv1751693,nssv1751666,nssv1751702,nssv1751673,nssv1751721,nssv1751663,nssv1751712,nssv1751659,nssv1751684,nssv1751668,nssv1751714,nssv1749111,nssv1749116,nssv1751682,nssv1751704,nssv1751728,nssv1751709,nssv1751681,nssv1751725,nssv1751678,nssv1751692,nssv1751656,nssv1749123,nssv1751657,nssv1751711,nssv1749121 M 97 10 0 CDK11B,SLC35E2B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4039071 1 1603558 1616459 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963539 M 10847 1 0 CDK11B,SLC35E2B nsv6316772 1 1603578 1616459 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201527 M 19652 1 0 CDK11B,SLC35E2B nsv5828610 1 1604399 1614574 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454271,nssv17460732 M 914 0 0 CDK11B,SLC35E2B nsv5828521 1 1605346 1606941 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462499,nssv17450055 M 914 0 0 CDK11B,SLC35E2B nsv5421753 1 1608439 1627683 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902440 M 3202 0 1 CDK11B,SLC35E2B nsv6322696 1 1608740 1612739 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201529 M 19652 1 0 CDK11B,SLC35E2B nsv5828524 1 1609100 1615899 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469115,nssv17465216 M 914 0 0 CDK11B,SLC35E2B esv3585011 1 1609210 1615827 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841041,essv9841039,essv9841040,essv9841036,essv9841028,essv9841035,essv9841037,essv9841031,essv9841038,essv9841033,essv9841044,essv9841032,essv9841043,essv9841034,essv9841042,essv9841029,essv9841030 M 2504 0 17 CDK11B,SLC35E2B HG01441,HG01806,HG01845,HG01855,HG01889,HG02057,HG02236,HG02399,HG02938,HG03052,HG03224,HG03279,HG03611,HG03634,NA18635,NA19327,NA20340 esv3585012 1 1609210 1615827 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841047,essv9841053,essv9841050,essv9841057,essv9841049,essv9841058,essv9841048,essv9841059,essv9841051,essv9841054,essv9841066,essv9841062,essv9841052,essv9841067,essv9841061,essv9841055,essv9841064,essv9841063,essv9841056,essv9841065,essv9841060,essv9841069,essv9841046,essv9841070,essv9841045,essv9841068 M 2504 26 0 CDK11B,SLC35E2B HG00116,HG00237,HG00614,HG00641,HG00766,HG01551,HG01577,HG01801,HG01810,HG01812,HG01878,HG02010,HG02052,HG02087,HG02190,HG02224,HG03833,HG03885,NA11995,NA18542,NA18566,NA18582,NA18957,NA19723,NA20819,NA20866 nsv6324794 1 1610930 1611315 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053575 M 19652 0 1 CDK11B,SLC35E2B dgv2n145 1 1610931 1674156 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nsv3112400,nsv3117910,nsv3111904,nsv3112384 M 467 0 6 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B sample208,sample266,sample286,sample325,sample329,sample97 nsv3320919 1 1610997 1611302 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14482247 M 14 0 1 CDK11B,SLC35E2B NA19434 nsv5867669 1 1611009 1611314 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361515 M 914 0 1 CDK11B,SLC35E2B nsv5425486 1 1611009 1611315 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902451 M 3202 0 1 CDK11B,SLC35E2B esv3553010 1 1611009 1611326 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9751757 M 767 0 1 CDK11B,SLC35E2B nsv5882155 1 1611446 1619053 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366407 M 914 0 1 CDK11B,SLC35E2B nsv4051964 1 1612300 1620400 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962600 M 10847 1 0 CDK11B,SLC35E2B dgv16e59 1 1613289 1613587 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3330776,esv3412710 M 185 2 0 CDK11B,SLC35E2B NA19239,NA19240 nsv5981928 1 1613427 1613479 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522128 M 405 0 1 CDK11B,SLC35E2B esv6099 1 1615214 1615401 CNV gain Ahn_et_al_2009 19470904 Sequencing essv28540 M 1 0 0 CDK11B,SLC35E2B esv3577686 1 1616990 1652775 CNV loss Uddin_et_al_2014 25503493 SNP array essv9784421 M 873 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B 400834SS dgv3e212 1 1616990 1687674 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577679,esv3577681,esv3577680,esv3577687,esv3577691,esv3577685,esv3577684,esv3577683,esv3577688,esv3577690,esv3577689,esv3577692 M 873 0 75 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B 400041LJ,400070PC,400076LC,400083TG,400094RS,400108BJ,400155CW,400156WT,400177CG,400178RH,400191MP,400199SA,400203NA,400227MM,400231LP,400248JO,400249BC,400294HD,400319HT,400376SJ,400383HL,400439IM,400458LS,400494ML,400501SJ,400502GS,400712GC,400739SS,400758KP,400821FE,400833BB,400920MK,400930MK,401005BL,401036WS,401067BD,401096SL,401102RD,401111LH,401113MJ,401250WD,401268PS,401274PA,401353BC,401386WA,401395OP,401414CR,401438HT,401444LD,401459HF,401465TB,401491BB,401540NA,401589HP,401592NR,401595BL,401612HB,401636WR,401640WJ,401664SD,401734PG,401735LE,401773AM,401841OB,401847RK,401855RE,401858TP,401860TJ,401894PD,401956DQ,401958MF,401979TB,402008MC,402009WP,402042BJ nsv5828526 1 1617033 1620852 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451139,nssv17464743 M 914 0 0 CDK11B,SLC35E2B nsv6043488 1 1617610 1617610 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522599 M 405 1 0 CDK11B,SLC35E2B dgv26n152 1 1617674 1620522 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3203585,nsv3207283 M 9 0 2 CDK11B,SLC35E2B NA19238,NA19240 nsv545027 1 1619541 1664124 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708615,nssv708616 M 17421 0 2 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B nsv5981816 1 1620051 1620299 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529283 M 405 0 1 CDK11B,SLC35E2B nsv5624271 1 1620459 1620459 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061281 M 35 1 0 CDK11B,SLC35E2B NA20509 nsv6058787 1 1620467 1620467 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526685 M 405 1 0 CDK11B,SLC35E2B nsv4050020 1 1620692 1673945 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851593 M 10847 0 1 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B nsv5885799 1 1620772 1674076 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351490 M 914 0 1 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B dgv39n54 1 1620861 1653672 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545028,nsv545029 M 17421 0 2 CDK11A,CDK11B,MMP23A,SLC35E2B esv3891747 1 1620861 1682374 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25800672 M 3017 0 1 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B nsv545030 1 1620861 1706136 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708619 M 17421 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B nsv4040154 1 1623000 1639500 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851604 M 10847 0 1 CDK11A,CDK11B,MMP23A,SLC35E2B nsv6138605 1 1623427 1629427 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902483 M 3202 1 0 CDK11B,SLC35E2B nsv6138123 1 1623427 1683033 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902494 M 3202 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2,SLC35E2B nsv6317949 1 1623440 1629339 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201635 M 19652 1 0 CDK11B,SLC35E2B dgv1n199 1 1623978 1678698 CNV deletion Quan_et_al_2021 34034800 Sequencing nsv4747801,nsv4734135 M 25 0 2 CDK11A,CDK11B,MMP23A,SLC35E2,SLC35E2B nsv4034599 1 1624000 1629000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851612 M 10847 0 1 CDK11B,SLC35E2B nsv4046807 1 1624265 1624533 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851621 M 10847 0 1 CDK11B nsv4459313 1 1624327 1624328 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026935 M 10847 1 0 CDK11B nsv5684768 1 1624355 1624355 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17227050 M 3202 1 0 CDK11B nsv3320932 1 1625377 1626405 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474271 M 14 0 1 CDK11B HG02059 nsv5981746 1 1625413 1626421 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528414 M 405 0 1 CDK11B nsv5575299 1 1625416 1626449 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061790 M 35 0 1 CDK11B HG00171 nsv5981747 1 1625432 1672720 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532731 M 405 0 1 CDK11A,CDK11B,MMP23A,SLC35E2 nsv6334136 1 1626540 1630839 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201648 M 19652 1 0 CDK11B dgv2e214 1 1626665 1681048 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585014,esv3585013 M 2504 0 199 CDK11A,CDK11B,MMP23A,SLC35E2 HG00121,HG00155,HG00178,HG00250,HG00253,HG00259,HG00284,HG00310,HG00331,HG00336,HG00362,HG00365,HG00452,HG00479,HG00531,HG00557,HG00581,HG00596,HG00610,HG00637,HG00656,HG01064,HG01066,HG01111,HG01122,HG01139,HG01170,HG01182,HG01188,HG01190,HG01191,HG01242,HG01277,HG01281,HG01308,HG01354,HG01374,HG01375,HG01393,HG01396,HG01403,HG01431,HG01441,HG01500,HG01501,HG01524,HG01531,HG01551,HG01593,HG01603,HG01676,HG01702,HG01709,HG01757,HG01784,HG01790,HG01798,HG01840,HG01852,HG01889,HG01912,HG01936,HG02026,HG02053,HG02057,HG02060,HG02073,HG02128,HG02134,HG02165,HG02239,HG02282,HG02309,HG02330,HG02433,HG02490,HG02501,HG02558,HG02601,HG02700,HG02728,HG02837,HG02938,HG02952,HG02976,HG03052,HG03097,HG03099,HG03103,HG03117,HG03198,HG03224,HG03246,HG03258,HG03279,HG03351,HG03352,HG03370,HG03455,HG03470,HG03485,HG03634,HG03646,HG03681,HG03692,HG03696,HG03745,HG03752,HG03757,HG03765,HG03781,HG03800,HG03803,HG03823,HG03856,HG03858,HG03899,HG03945,HG03967,HG03976,HG04015,HG04026,HG04063,HG04099,HG04107,HG04131,HG04176,HG04195,HG04211,HG04227,HG04229,NA06989,NA12003,NA12006,NA12144,NA12718,NA12750,NA12751,NA12762,NA12843,NA18504,NA18538,NA18552,NA18565,NA18596,NA18620,NA18631,NA18632,NA18635,NA18638,NA18645,NA18647,NA18934,NA18940,NA18957,NA18976,NA19070,NA19081,NA19144,NA19200,NA19207,NA19309,NA19328,NA19346,NA19384,NA19391,NA19430,NA19443,NA19654,NA19717,NA19777,NA19792,NA20340,NA20362,NA20505,NA20512,NA20518,NA20539,NA20544,NA20581,NA20753,NA20803,NA20804,NA20815,NA20847,NA20849,NA20876,NA20877,NA20892,NA20896,NA20902,NA21088,NA21090,NA21094,NA21097,NA21102,NA21109,NA21116,NA21135 esv3585015 1 1627805 1673809 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841427,essv9841418,essv9841425,essv9841420,essv9841428,essv9841424,essv9841429,essv9841419,essv9841426,essv9841421,essv9841402,essv9841411,essv9841422,essv9841394,essv9841412,essv9841423,essv9841393,essv9841409,essv9841401,essv9841410,essv9841392,essv9841413,essv9841399,essv9841405,essv9841398,essv9841403,essv9841396,essv9841408,essv9841395,essv9841406,essv9841400,essv9841404,essv9841397,essv9841407,essv9841417,essv9841386,essv9841414,essv9841387,essv9841416,essv9841388,essv9841415,essv9841389,essv9841441,essv9841390,essv9841434,essv9841391,essv9841433,essv9841430,essv9841439,essv9841432,essv9841435,essv9841437,essv9841436,essv9841440,essv9841438,essv9841431 M 2504 56 0 CDK11A,CDK11B,MMP23A,SLC35E2 HG00139,HG00174,HG00257,HG00258,HG00282,HG00382,HG00693,HG01047,HG01048,HG01173,HG01248,HG01311,HG01456,HG01518,HG01524,HG01530,HG01630,HG01632,HG01685,HG01801,HG01868,HG01927,HG01974,HG02143,HG02154,HG02223,HG02351,HG02355,HG02502,HG02851,HG03388,HG03428,HG03517,HG03812,HG03833,HG04173,NA07056,NA11892,NA11920,NA12828,NA12889,NA18537,NA18582,NA19204,NA19707,NA19740,NA20127,NA20516,NA20528,NA20785,NA20808,NA20809,NA20832,NA20846,NA20851,NA20895 dgv9n100 1 1627906 1687928 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998152,nsv1003869,nsv1007850 M 11257 0 4 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv1011683 1 1627906 1688192 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471705 M 11257 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv1003545 1 1627906 1692321 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467704,nssv3477823 M 11257 1 1 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 esv2764265 1 1627918 1672603 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004908,essv7004885,essv7004887,essv7004906,essv7004894,essv7004884,essv7004910,essv7004883,essv7004896,essv7004903,essv7004880,essv7004895,essv7004912,essv7004893,essv7004905,essv7004897,essv7004901,essv7004890,essv7004881,essv7004902,essv7004909,essv7004898,essv7004899,essv7004904,essv7004907,essv7004886,essv7004888,essv7004891,essv7004882,essv7004892 M 1109 2 27 CDK11A,CDK11B,MMP23A,SLC35E2 RW_0007,RW_0008,RW_0057,RW_0062,RW_0075,RW_0108,RW_0119,RW_0137,RW_0154,RW_0162,RW_0166,RW_0179,RW_0186,RW_0203,RW_0221,RW_0276,RW_0324,RW_0341,RW_0359,RW_0510,RW_0512,RW_0523,RW_0529,RW_0533,RW_0560,RW_0645,RW_0646,RW_0662,RW_0663 nsv442858 1 1627918 1672603 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1617369,nssv1617425,nssv1617503,nssv1617625,nssv1617536,nssv1617525,nssv1617591,nssv1617380,nssv1617491,nssv1617580,nssv1616946,nssv1617168,nssv1617614,nssv1617057,nssv1617358,nssv1617569,nssv1617636,nssv1617403,nssv1617547,nssv1617480,nssv1617392,nssv1617279,nssv1617602,nssv1617447,nssv1617458,nssv1617558,nssv1617414,nssv1617514,nssv1617469,nssv1617436,nssv1616835 M 270 6 25 CDK11A,CDK11B,MMP23A,SLC35E2 NA07056,NA10835,NA10839,NA12003,NA12006,NA12144,NA12248,NA12740,NA12750,NA12751,NA12762,NA18504,NA18523,NA18537,NA18552,NA18582,NA18620,NA18632,NA18635,NA18852,NA18854,NA18940,NA18976,NA18994,NA19144,NA19145,NA19200,NA19204,NA19205,NA19207,NA19208 nsv6056919 1 1627926 1627926 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526268 M 405 1 0 CDK11B nsv3320717 1 1627927 1627927 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491951 M 14 1 0 CDK11B HG02059 nsv5609977 1 1627940 1627940 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061800 M 35 1 0 CDK11B HG00171 nsv6331272 1 1627940 1630939 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201650 M 19652 1 0 CDK11B nsv545031 1 1627987 1686040 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708620 M 17421 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv5884595 1 1628309 1628385 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367027 M 914 0 1 CDK11B nsv5573877 1 1628329 1628407 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061803 M 35 0 1 CDK11B NA19983 nsv5541132 1 1628381 1628406 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902503 M 3202 1 0 CDK11B dgv4e212 1 1628405 1687927 CNV gain Uddin_et_al_2014 25503493 SNP array esv3576693,esv3577804,esv3578915,esv3567895 M 873 12 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 400109LJ,400213DB,400343BD,400375KA,400641WJ,400793BR,400800MW,401087SF,401117NA,401460LW,401490TL,401526WB nsv6322640 1 1628406 1681077 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201652 M 19652 1 0 CDK11A,CDK11B,MMP23A,SLC35E2 nsv1160864 1 1628418 1669101 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4027323 M 369 1 0 CDK11A,CDK11B,MMP23A,SLC35E2 nsv1155132 1 1628418 1687587 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4010873 M 131 0 1 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv1160925 1 1628418 1687587 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4027545,nssv4027434 M 369 0 2 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv6137936 1 1628992 1629625 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902504 M 3202 0 1 CDK11B nsv4036877 1 1629000 1682350 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961284 M 10847 1 0 CDK11A,CDK11B,MMP23A,SLC35E2 nsv436343 1 1629618 1684180 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466028 M 2 0 1 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 NA18505 nsv5981691 1 1630932 1683631 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17522787 M 405 1 0 CDK11A,CDK11B,MMP23A,NADK,SLC35E2 nsv834091 1 1632798 1812077 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443851 M 95 0 1 CDK11A,CDK11B,GNB1,MMP23A,NADK,SLC35E2 nsv5828619 1 1634161 1636316 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453409,nssv17466359 M 914 0 0 CDK11A,CDK11B nsv482168 1 1634170 1655791 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558529 M 1 1 0 CDK11A,CDK11B KB1 nsv4042473 1 1634725 1640200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851637 M 10847 0 1 CDK11A,CDK11B nsv6319289 1 1634840 1636539 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201663 M 19652 1 0 CDK11A,CDK11B nsv822475 1 1635000 1680585 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1439447 M 31 1 0 CDK11A,CDK11B,SLC35E2 NA18537 nsv822586 1 1635201 1650813 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1438578 M 31 1 0 CDK11A,CDK11B NA18973 nsv822697 1 1635205 1667157 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1422355 M 31 0 1 CDK11A,CDK11B,SLC35E2 NA18552 nsv5828406 1 1637269 1638319 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451312,nssv17451783 M 914 0 0 CDK11A,CDK11B nsv6319380 1 1637340 1638639 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201665 M 19652 1 0 CDK11A,CDK11B nsv6332063 1 1637440 1639939 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201666 M 19652 1 0 CDK11A,CDK11B nsv545032 1 1638005 1664124 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708623,nssv708622,nssv708621,nssv708624 M 17421 0 4 CDK11A,CDK11B,SLC35E2 dgv40n54 1 1638005 1680442 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545034,nsv545037,nsv545033 M 17421 0 5 CDK11A,CDK11B,SLC35E2 nsv6327574 1 1638140 1639639 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201667 M 19652 1 0 CDK11A,CDK11B nsv4047334 1 1641000 1647000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851655 M 10847 0 1 CDK11A,CDK11B dgv28n223 1 1641940 1676339 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6326647,nsv6320718 M 19652 2 0 CDK11A,CDK11B,SLC35E2 dgv5e212 1 1642090 1687674 CNV gain Uddin_et_al_2014 25503493 SNP array esv3581137,esv3580026 M 873 2 0 CDK11A,CDK11B,NADK,SLC35E2 400785AK,401820SD dgv41n54 1 1644908 1671782 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545035,nsv545036 M 17421 0 3 CDK11A,CDK11B,SLC35E2 nsv3191241 1 1644991 1646655 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357890,nssv14357889,nssv14357888,nssv14357887,nssv14357886 M 9 0 5 CDK11A,CDK11B HG00512,HG00513,HG00514,HG00731,HG00733 nsv1118094 1 1645000 1646800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980313 M 2 0 1 CDK11A,CDK11B KWS1 nsv4047989 1 1645500 1659000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851663 M 10847 0 1 CDK11A,CDK11B,SLC35E2 nsv5828411 1 1646037 1653777 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465507,nssv17463019 M 914 0 0 CDK11A,CDK11B nsv6335101 1 1647140 1656439 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201678 M 19652 1 0 CDK11A,CDK11B,SLC35E2 esv3567896 1 1647610 1672591 CNV gain Uddin_et_al_2014 25503493 SNP array essv9768533,essv9768422 M 873 2 0 CDK11A,CDK11B,SLC35E2 401432SB,401693RC nsv3321171 1 1647686 1647686 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14491888 M 14 1 0 CDK11A,CDK11B HG02106 nsv822809 1 1647869 1667157 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431056 M 31 0 1 CDK11A,CDK11B,SLC35E2 AK18 nsv4752230 1 1648238 1648238 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16289802 M 25 1 0 CDK11A,CDK11B nsv509368 1 1648331 1648331 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623768 M 4 1 0 CDK11A,CDK11B NA18994 nsv5618062 1 1648357 1648357 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061344 M 35 1 0 CDK11A,CDK11B HG03065 nsv1152112 1 1648499 1650100 CNV duplication John_et_al_2014 26484159 Sequencing nssv3996720 M 1 1 0 CDK11A,CDK11B KWB1 nsv4533736 1 1648529 1648530 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028638 M 10847 1 0 CDK11A,CDK11B nsv436733 1 1648626 1648695 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466139 M 2 1 0 CDK11A,CDK11B NA18505 dgv3n145 1 1648818 1665498 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nsv3117997,nsv3111577 M 467 0 4 CDK11A,CDK11B,SLC35E2 sample100,sample373,sample420,sample51 dgv4n145 1 1648818 1674156 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nsv3113125,nsv3116485,nsv3116633 M 467 0 9 CDK11A,CDK11B,SLC35E2 sample110,sample282,sample310,sample366,sample386,sample416,sample424,sample68,sample91 nsv3114557 1 1648832 1688767 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14096536 M 467 0 1 CDK11A,CDK11B,NADK,SLC35E2 sample363 nsv159838 1 1649026 1649076 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178416 M 24 CDK11A,CDK11B nsv2800176 1 1649026 1649076 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13707250 M 2 0 1 CDK11A,CDK11B nsv3320728 1 1649026 1649076 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482935,nssv14491523,nssv14479640,nssv14475730,nssv14482940,nssv14487284,nssv14484339,nssv14480198,nssv14486974,nssv14474776,nssv14478780,nssv14488948,nssv14475093 M 14 0 13 CDK11A,CDK11B CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19434 nsv3182355 1 1649026 1649077 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14464513,nssv14431996 M 9 0 0 CDK11A,CDK11B HG00514,HG00733 nsv5578411 1 1649043 1649093 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061345 M 35 0 1 CDK11A,CDK11B HG00731 nsv3524987 1 1649043 1649094 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358574,nssv14358569,nssv14358570,nssv14358572,nssv14358571,nssv14358573 M 9 0 6 CDK11A,CDK11B HG00512,HG00513,HG00514,HG00731,HG00732,HG00733 nsv3939787 1 1649043 1649094 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182281 M 1 0 1 CDK11A,CDK11B HG002 nsv4448712 1 1649043 1649094 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15762869 M 1 0 1 CDK11A,CDK11B nsv5981755 1 1649045 1649098 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521100 M 405 0 1 CDK11A,CDK11B esv3585016 1 1649047 1650523 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841442,essv9841501,essv9841443,essv9841506,essv9841444,essv9841507,essv9841475,essv9841489,essv9841508,essv9841480,essv9841491,essv9841500,essv9841486,essv9841492,essv9841503,essv9841484,essv9841490,essv9841499,essv9841476,essv9841496,essv9841502,essv9841474,essv9841498,essv9841505,essv9841473,essv9841497,essv9841504,essv9841481,essv9841495,essv9841485,essv9841493,essv9841477,essv9841494,essv9841483,essv9841469,essv9841487,essv9841472,essv9841478,essv9841471,essv9841479,essv9841470,essv9841488,essv9841468,essv9841482,essv9841448,essv9841466,essv9841451,essv9841458,essv9841450,essv9841463,essv9841452,essv9841455,essv9841445,essv9841453,essv9841449,essv9841462,essv9841446,essv9841467,essv9841447,essv9841461,essv9841456,essv9841454,essv9841460,essv9841457,essv9841464,essv9841459,essv9841465 M 2504 0 67 CDK11A,CDK11B HG00155,HG00259,HG00310,HG00479,HG00851,HG01064,HG01122,HG01182,HG01188,HG01431,HG01501,HG01757,HG01784,HG01794,HG01889,HG02026,HG02032,HG02047,HG02057,HG02073,HG02128,HG02134,HG02164,HG02239,HG02282,HG02383,HG02490,HG02558,HG02601,HG02728,HG02837,HG03681,HG03696,HG03730,HG03745,HG03757,HG03781,HG03803,HG03858,HG03899,HG03945,HG03967,HG03976,HG04026,HG04176,HG04229,NA12144,NA12718,NA12750,NA12751,NA18504,NA18620,NA18632,NA18647,NA18957,NA18976,NA19070,NA19777,NA19792,NA20362,NA20508,NA20512,NA20518,NA20544,NA20581,NA20804,NA21135 esv988165 1 1649051 1649101 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570116 M 3 0 1 CDK11A,CDK11B HuRef nsv5430622 1 1649052 1649972 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902506 M 3202 0 1 CDK11A,CDK11B esv1455500 1 1649063 1649114 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4050580 M 2 0 1 CDK11A,CDK11B HuRef nsv5617462 1 1649075 1649075 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061346 M 35 1 0 CDK11A,CDK11B HG00732 nsv160496 1 1649094 1649144 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179074 M 24 CDK11A,CDK11B nsv3320939 1 1649096 1649147 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475870 M 14 0 1 CDK11A,CDK11B HG02106 nsv3174839 1 1649229 1649337 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392079 M 9 0 0 CDK11A,CDK11B NA19240 nsv6318152 1 1649364 1650374 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201681 M 19652 1 0 CDK11A,CDK11B esv6106 1 1649450 1650789 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28547 M 1 0 0 CDK11A,CDK11B nsv5576014 1 1649593 1649643 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061904 M 35 0 1 CDK11A,CDK11B HG03065 esv3585017 1 1649620 1650651 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841509,essv9841530,essv9841510,essv9841521,essv9841511,essv9841532,essv9841517,essv9841571,essv9841525,essv9841518,essv9841573,essv9841528,essv9841513,essv9841566,essv9841527,essv9841514,essv9841567,essv9841523,essv9841516,essv9841570,essv9841531,essv9841512,essv9841565,essv9841524,essv9841515,essv9841569,essv9841520,essv9841519,essv9841568,essv9841533,essv9841572,essv9841534,essv9841574,essv9841522,essv9841546,essv9841526,essv9841543,essv9841529,essv9841548,essv9841556,essv9841541,essv9841562,essv9841550,essv9841564,essv9841547,essv9841563,essv9841542,essv9841559,essv9841554,essv9841561,essv9841553,essv9841558,essv9841555,essv9841560,essv9841544,essv9841557,essv9841545,essv9841537,essv9841549,essv9841539,essv9841540,essv9841538,essv9841552,essv9841535,essv9841551,essv9841536 M 2504 0 66 CDK11A,CDK11B HG00155,HG00259,HG00310,HG00479,HG00851,HG01064,HG01122,HG01182,HG01188,HG01431,HG01501,HG01757,HG01784,HG01794,HG01889,HG02026,HG02032,HG02047,HG02057,HG02073,HG02128,HG02134,HG02164,HG02239,HG02282,HG02383,HG02490,HG02558,HG02601,HG02728,HG02837,HG03681,HG03696,HG03730,HG03745,HG03757,HG03781,HG03803,HG03858,HG03899,HG03945,HG03967,HG03976,HG04026,HG04176,HG04229,NA12144,NA12718,NA12750,NA12751,NA18620,NA18632,NA18647,NA18957,NA18976,NA19070,NA19777,NA19792,NA20362,NA20508,NA20512,NA20518,NA20544,NA20581,NA20804,NA21135 nsv5581395 1 1649665 1649772 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061906 M 35 0 1 CDK11A,CDK11B HG00864 nsv955437 1 1649679 1650559 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000429 M 1 0 1 CDK11A,CDK11B BILGI_BIOE nsv160062 1 1649716 1650677 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178640 M 24 CDK11A,CDK11B nsv3321173 1 1649802 1649857 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491275 M 14 0 1 CDK11A,CDK11B HG02106 nsv5568359 1 1649891 1649941 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061908 M 35 0 1 CDK11A,CDK11B HG00513 nsv5620471 1 1649915 1649915 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061550 M 35 1 0 CDK11A,CDK11B NA18534 nsv5981695 1 1649917 1649970 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533055 M 405 0 1 CDK11A,CDK11B nsv4737666 1 1649960 1650406 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273778 M 25 0 1 CDK11A,CDK11B nsv3320730 1 1650041 1650627 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14477411 M 14 0 1 CDK11A,CDK11B HG02106 nsv4046958 1 1650400 1656000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963553 M 10847 1 0 CDK11A,CDK11B nsv4040818 1 1650550 1658975 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851673 M 10847 0 1 CDK11A,CDK11B,SLC35E2 nsv160158 1 1650603 1650603 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178736 M 24 CDK11A,CDK11B esv2668621 1 1651159 1651941 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5459191,essv6442324,essv6236522,essv6333757,essv6101359,essv5416521,essv5915606,essv6431866,essv5761947,essv6305366,essv5497841,essv6450861,essv5511908,essv5414059,essv5609773,essv5640630,essv6382267,essv5400219,essv6368978,essv6153819,essv5556298,essv6119048,essv5428122,essv5629650,essv6591585,essv5533975,essv5858348,essv5705033,essv5729436,essv5447015,essv6008529,essv5497193,essv6551084,essv5857834,essv6441545,essv5851810,essv5493869,essv5538931,essv6026905,essv6136806,essv6288639,essv6481896,essv5681328,essv6214341,essv6248804,essv6221133,essv6159658,essv6057054,essv6161260,essv6006807,essv6208300,essv6174707,essv6165381,essv6441948,essv5427661,essv6509143,essv5979668,essv5854246,essv5981084,essv5509797,essv6183585,essv6181979,essv6491661,essv5811208,essv6412603,essv5740387,essv5777711,essv6478047,essv6423905,essv5766798,essv5526479,essv5734885,essv6211439,essv5679734,essv5786016,essv5875369,essv5545500,essv5707911,essv6020832,essv6429076,essv5533725,essv5501939,essv5996000,essv6172833,essv5829857,essv5521262,essv6383329,essv5721102,essv5445813,essv5824414,essv5415020,essv5842807,essv6574947,essv5945228,essv6502114,essv6150455,essv6567674,essv5957397,essv6405662,essv5757432,essv5925180 M 1151 0 101 CDK11A,CDK11B HG00112,HG00126,HG00133,HG00158,HG00258,HG00276,HG00326,HG00357,HG00635,HG00641,HG00704,HG00737,HG01067,HG01094,HG01101,HG01111,HG01112,HG01124,HG01133,HG01353,HG01375,HG01497,HG01521,NA06989,NA07037,NA07056,NA11892,NA11920,NA11994,NA12155,NA12341,NA12347,NA12717,NA18488,NA18507,NA18535,NA18541,NA18565,NA18567,NA18615,NA18617,NA18621,NA18868,NA18873,NA18973,NA18988,NA18989,NA19000,NA19004,NA19056,NA19057,NA19059,NA19060,NA19066,NA19068,NA19072,NA19078,NA19079,NA19083,NA19087,NA19092,NA19189,NA19235,NA19317,NA19334,NA19346,NA19350,NA19376,NA19381,NA19383,NA19384,NA19391,NA19394,NA19397,NA19403,NA19431,NA19467,NA19625,NA19652,NA19679,NA19684,NA19700,NA19704,NA19707,NA19712,NA19717,NA19725,NA19729,NA19731,NA19755,NA19776,NA19782,NA19835,NA19901,NA19917,NA19920,NA20507,NA20761,NA20768,NA20804,NA20815 nsv5572830 1 1651247 1651728 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061911 M 35 0 1 CDK11A,CDK11B HG02011 esv3682994 1 1651686 1651824 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467771 M 20 0 1 CDK11A,CDK11B nsv5621446 1 1652135 1652135 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061913 M 35 1 0 CDK11A,CDK11B HG03065 nsv5426354 1 1652363 1652802 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902507 M 3202 0 1 CDK11A,CDK11B nsv5606060 1 1652673 1652673 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061915 M 35 1 0 CDK11A,CDK11B HG02011 nsv2800918 1 1652686 1652686 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693296 M 2 1 0 CDK11A,CDK11B nsv5569918 1 1652725 1652894 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061916 M 35 0 1 CDK11A,CDK11B HG02011 nsv5620012 1 1653333 1653333 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061917 M 35 1 0 CDK11A,CDK11B HG03065 dgv29n223 1 1654940 1681039 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6327641,nsv6329507 M 19652 2 0 CDK11A,CDK11B,SLC35E2 nsv6327004 1 1655040 1656239 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201685 M 19652 1 0 CDK11A,CDK11B nsv6322959 1 1655140 1659339 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201686 M 19652 1 0 CDK11A,CDK11B,SLC35E2 nsv5828412 1 1655249 1658897 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457489,nssv17459247 M 914 0 0 CDK11A,CDK11B,SLC35E2 dgv30n223 1 1655340 1676739 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6320570,nsv6325360,nsv6318047,nsv6319344,nsv6316600,nsv6320515,nsv6328477 M 19652 7 0 CDK11A,CDK11B,SLC35E2 nsv6138216 1 1655427 1661939 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902508 M 3202 1 0 CDK11A,CDK11B,SLC35E2 nsv5869513 1 1656405 1658362 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367745 M 914 0 1 SLC35E2 nsv5579740 1 1656420 1657491 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061926 M 35 0 1 SLC35E2 NA19238 nsv3191490 1 1656420 1657492 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360877 M 9 0 1 SLC35E2 NA19238 nsv4051614 1 1656432 1658363 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848924 M 10847 0 1 SLC35E2 nsv4747367 1 1656573 1657646 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16291374 M 25 0 1 SLC35E2 nsv4047202 1 1656592 1657633 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848931 M 10847 0 1 SLC35E2 nsv5427642 1 1656598 1657517 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902511 M 3202 0 1 SLC35E2 nsv6138566 1 1656993 1657375 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902512 M 3202 0 1 SLC35E2 nsv5981949 1 1657015 1657402 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531399 M 405 0 1 SLC35E2 nsv6327362 1 1657040 1658039 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053922 M 19652 0 1 SLC35E2 nsv5828413 1 1657147 1658897 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451554,nssv17464510 M 914 0 0 SLC35E2 nsv3321369 1 1657148 1658110 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14487336 M 14 0 1 SLC35E2 HG01352 nsv4517215 1 1657175 1658097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848947 M 10847 0 1 SLC35E2 nsv6323581 1 1657240 1660039 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202272 M 19652 1 0 SLC35E2 nsv4517942 1 1657264 1657669 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963563 M 10847 1 0 SLC35E2 nsv4517621 1 1657291 1657892 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849513 M 10847 0 1 SLC35E2 nsv5981697 1 1657486 1658080 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531965 M 405 0 1 SLC35E2 nsv6326330 1 1657492 1658085 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202274 M 19652 1 0 SLC35E2 nsv6328986 1 1657540 1659439 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202275 M 19652 1 0 SLC35E2 nsv6316123 1 1657579 1658170 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053926 M 19652 0 1 SLC35E2 dgv31n223 1 1658740 1674139 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6318451,nsv6324070 M 19652 0 2 SLC35E2 nsv4047343 1 1658800 1682000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963571 M 10847 1 0 SLC35E2 dgv42n54 1 1658945 1683565 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545039,nsv545038 M 17421 0 2 NADK,SLC35E2 nsv6332990 1 1659640 1662139 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201024 M 19652 1 0 SLC35E2 nsv1076312 1 1659699 1662700 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768013 M 1 1 0 SLC35E2 KWP1 nsv4033292 1 1659700 1667025 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963581 M 10847 1 0 SLC35E2 nsv4516898 1 1659775 1674000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849522 M 10847 0 1 SLC35E2 nsv950521 1 1660501 1691900 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997181 M 1 0 1 NADK,SLC35E2 BILGI_BIOE nsv6334209 1 1660740 1662239 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201026 M 19652 1 0 SLC35E2 nsv5828633 1 1661863 1667788 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467345,nssv17460689 M 914 0 0 SLC35E2 nsv5828634 1 1662162 1675051 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461450,nssv17454915 M 914 0 0 SLC35E2 nsv5431728 1 1662416 1662467 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902513 M 3202 0 1 SLC35E2 nsv545040 1 1664019 1671782 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708636,nssv708635 M 17421 0 2 SLC35E2 nsv5578937 1 1664786 1664952 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061593 M 35 0 1 SLC35E2 HG01114 nsv945747 1 1666114 1668587 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1749157,nssv1750163,nssv1749165,nssv1749168,nssv1749159,nssv1750160,nssv1750165,nssv1750117,nssv1749166,nssv1749163,nssv1749158,nssv1750159,nssv1750168,nssv1750112,nssv1750133,nssv1750111,nssv1750143,nssv1749173,nssv1750174,nssv1750115,nssv1750147,nssv1749164,nssv1750144,nssv1749179,nssv1750121,nssv1749156,nssv1750118,nssv1750108,nssv1750122,nssv1749172,nssv1750126,nssv1749160,nssv1750155,nssv1750116,nssv1750146,nssv1750104,nssv1750173,nssv1749175,nssv1750120,nssv1750164,nssv1750154,nssv1750157,nssv1750169,nssv1749174,nssv1750130,nssv1750110,nssv1750124,nssv1749171,nssv1750148,nssv1749177,nssv1750137,nssv1750105,nssv1750128,nssv1750162,nssv1750171,nssv1750109,nssv1750153,nssv1749169,nssv1750172,nssv1749162,nssv1750119,nssv1749170,nssv1750132,nssv1749167,nssv1750134,nssv1750107,nssv1750123,nssv1749178,nssv1750141,nssv1750166,nssv1750151,nssv1750161,nssv1750139,nssv1750113,nssv1750145,nssv1749161,nssv1750135,nssv1750106,nssv1750152,nssv1749176,nssv1750167,nssv1750158,nssv1750175,nssv1750114,nssv1750176,nssv1750150,nssv1750136,nssv1750170,nssv1750156,nssv1750149,nssv1750127,nssv1750142,nssv1750131,nssv1750138,nssv1750129,nssv1750140,nssv1750125 M 97 10 0 SLC35E2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4459337 1 1666521 1666522 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027746 M 10847 1 0 SLC35E2 nsv5611461 1 1666768 1666768 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061600 M 35 1 0 SLC35E2 HG00864 nsv5566736 1 1667956 1668270 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061603 M 35 0 1 SLC35E2 HG00864 nsv6317058 1 1668240 1670539 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201034 M 19652 1 0 SLC35E2 nsv5879243 1 1668626 1668695 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368368 M 914 0 1 SLC35E2 nsv5416977 1 1668628 1668696 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902514 M 3202 0 1 SLC35E2 nsv5430689 1 1669642 1672107 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902515 M 3202 0 1 SLC35E2 nsv5828736 1 1671090 1673957 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452256,nssv17469280 M 914 0 0 SLC35E2 nsv4034800 1 1671400 1676800 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849532 M 10847 0 1 SLC35E2 nsv6326233 1 1671740 1675639 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201039 M 19652 1 0 SLC35E2 nsv5879041 1 1673290 1673618 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361115 M 914 0 1 SLC35E2 nsv5982176 1 1673414 1673735 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519664 M 405 0 1 SLC35E2 nsv5878446 1 1673685 1923279 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358650 M 914 0 1 CALML6,GNB1,KIAA1751,NADK,SLC35E2,TMEM52 nsv5828551 1 1673858 1674901 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465162,nssv17452638 M 914 0 0 SLC35E2 nsv5677981 1 1677634 1677634 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17225492 M 3202 1 0 "" nsv5620797 1 1678680 1678680 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061609 M 35 1 0 "" HG00732 nsv5622748 1 1678698 1678698 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061610 M 35 1 0 "" HG03371 nsv3207184 1 1678983 1681459 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360799 M 9 0 1 "" HG00732 nsv5828419 1 1679177 1681659 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465631,nssv17458873 M 914 0 0 "" nsv6316152 1 1679440 1680939 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201052 M 19652 1 0 "" nsv5565059 1 1680170 1680642 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061615 M 35 0 1 "" HG00732 nsv5981844 1 1680181 1680644 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522844 M 405 0 1 "" nsv3056074 1 1681036 1681036 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029326 M 2 1 0 "" NA12878 nsv3953253 1 1681044 1681044 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191991 M 1 1 0 "" HG002 nsv5624249 1 1681044 1681044 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061617 M 35 1 0 "" HG00731 nsv5967116 1 1681044 1681044 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361719 M 914 1 0 "" nsv6060395 1 1681044 1681044 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517716 M 405 1 0 "" nsv3177945 1 1681044 1681094 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440828 M 9 0 0 "" HG00733 nsv2800830 1 1681045 1681045 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13709290 M 2 1 0 "" nsv3320952 1 1681045 1681045 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486098,nssv14486612,nssv14480109,nssv14475753,nssv14486452,nssv14479274,nssv14490165,nssv14486444,nssv14473827,nssv14486409 M 14 10 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02106,HG04217,HX1,NA12878 esv3408726 1 1681046 1681067 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863669,essv7863670 M 185 2 0 "" NA11992,NA18522 nsv4755635 1 1681052 1681052 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16272760 M 25 1 0 "" esv1736683 1 1681067 1681067 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3785632 M 2 1 0 "" HuRef nsv945749 1 1683296 1691866 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750181,nssv1750185,nssv1750187,nssv1750183,nssv1750182,nssv1750186,nssv1750180,nssv1750184,nssv1750177,nssv1750178,nssv1750179 M 97 10 0 NADK HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545041 1 1684472 1711698 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708637 M 17421 0 1 NADK nsv4744524 1 1688910 1692222 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281707 M 25 0 1 NADK nsv5575079 1 1690715 1690771 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061349 M 35 0 1 NADK NA19238 nsv5877713 1 1690715 1690771 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360050 M 914 0 1 NADK nsv3193590 1 1690715 1690772 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14361401 M 9 0 1 NADK NA19238 nsv5828427 1 1694611 1696710 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452352 M 914 0 0 NADK nsv6319495 1 1702025 1704805 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053777 M 19652 0 1 NADK nsv4048399 1 1702026 1704805 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849547 M 10847 0 1 NADK nsv1160926 1 1704138 1836927 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4027656 M 369 1 0 GNB1,NADK nsv6536909 1 1704141 1704864 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248782 M 19652 0 0 NADK nsv4035891 1 1704852 1705922 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849558 M 10847 0 1 NADK nsv5948951 1 1705151 1705151 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17355088 M 914 1 0 NADK nsv5981775 1 1706009 1706069 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519126 M 405 0 1 NADK nsv4037916 1 1706107 1706210 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963592 M 10847 1 0 NADK dgv10n100 1 1711414 1815981 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011008,nsv1007257 M 11257 2 0 GNB1,NADK nsv6330115 1 1713413 1801595 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201096 M 19652 1 0 GNB1 nsv6334599 1 1714027 1716285 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054042 M 19652 0 1 "" nsv4732401 1 1716056 1716145 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273556 M 25 0 1 "" nsv951380 1 1716601 1722700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997192 M 1 0 1 GNB1 BILGI_BIOE nsv5680868 1 1717863 1717863 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17173988 M 3202 1 0 GNB1 nsv5405512 1 1717863 1717914 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902517 M 3202 1 0 GNB1 nsv4042056 1 1730949 1733601 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851684 M 10847 0 1 GNB1 nsv6334975 1 1730949 1733601 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054557 M 19652 0 1 GNB1 nsv6552241 1 1732631 1733665 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248853 M 19652 0 0 GNB1 nsv3207470 1 1736758 1737108 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14362995 M 9 0 1 GNB1 HG00514 nsv6542764 1 1738320 1739580 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248870 M 19652 0 0 GNB1 nsv6552922 1 1738919 1739113 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248872 M 19652 0 0 GNB1 nsv4043339 1 1741649 1741751 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851692 M 10847 0 1 GNB1 nsv1133790 1 1742145 1742214 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969361 M 2 0 1 GNB1 KWS2 nsv4033473 1 1742345 1742523 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851698 M 10847 0 1 GNB1 nsv6537487 1 1742360 1743030 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248880 M 19652 0 0 GNB1 nsv5981954 1 1742580 1742709 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525416 M 405 0 1 GNB1 nsv6546234 1 1742607 1742776 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248881 M 19652 0 0 GNB1 nsv6317059 1 1742899 1743440 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201727 M 19652 1 0 GNB1 nsv6319183 1 1744020 1885507 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201729 M 19652 1 0 CALML6,GNB1,KIAA1751,TMEM52 nsv834335 1 1744910 1933405 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443962 M 95 0 1 CALML6,GNB1,KIAA1751,TMEM52 nsv5981956 1 1748259 1748414 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524514 M 405 0 1 GNB1 nsv6317214 1 1750067 1751561 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201735 M 19652 1 0 GNB1 nsv6542603 1 1750174 1750678 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249456 M 19652 0 0 GNB1 nsv4051983 1 1755614 1755748 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963600 M 10847 1 0 GNB1 nsv6320571 1 1757381 1763981 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054681 M 19652 0 1 GNB1 nsv4459440 1 1765809 1765810 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027662 M 10847 1 0 GNB1 nsv6317039 1 1766108 1768694 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054702 M 19652 0 1 GNB1 nsv6540146 1 1767372 1767990 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249508 M 19652 0 0 GNB1 nsv6555381 1 1769123 1769592 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249511 M 19652 0 0 GNB1 esv2619193 1 1771014 1777460 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5309496 M 1 0 1 GNB1 NA18507 nsv6538049 1 1771405 1772538 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249516 M 19652 0 0 GNB1 nsv5424138 1 1771970 1776922 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902518 M 3202 0 1 GNB1 nsv4038831 1 1772000 1777000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851708 M 10847 0 1 GNB1 esv3585018 1 1772216 1773658 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841575 M 2504 0 1 GNB1 HG00146 esv2658596 1 1772235 1773644 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5493454 M 1151 0 1 GNB1 HG00146 nsv5422311 1 1772245 1773644 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902519 M 3202 0 1 GNB1 nsv4537368 1 1773125 1773126 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027881 M 10847 1 0 GNB1 nsv5429506 1 1773427 1779439 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902520 M 3202 0 1 GNB1 nsv6535955 1 1773504 1879648 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249522 M 19652 0 0 CALML6,GNB1,TMEM52 esv2666680 1 1773809 1775650 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5578378 M 1151 0 1 GNB1 NA18983 nsv6331821 1 1773842 1779786 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054411 M 19652 0 1 GNB1 nsv5426320 1 1773882 1775594 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902521 M 3202 0 1 GNB1 nsv4049582 1 1774000 1780000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851718 M 10847 0 1 GNB1 esv3577696 1 1774335 1778090 CNV loss Uddin_et_al_2014 25503493 SNP array essv9780755,essv9772533,essv9776532,essv9780533,essv9781533,essv9774977,essv9773755,essv9771755,essv9775310,essv9774310,essv9779533,essv9777532,essv9773199,essv9781422,essv9777310,essv9773533,essv9768978,essv9778089,essv9771977,essv9778533,essv9770200,essv9778978,essv9776755,essv9771866,essv9777756,essv9779422,essv9774644,essv9775755,essv9776644,essv9774533,essv9768644,essv9769422,essv9774422,essv9779866,essv9776977,essv9772644,essv9770533,essv9781089,essv9773088,essv9775977,essv9770311,essv9769311,essv9769866,essv9768867,essv9769089,essv9777199,essv9777978,essv9779311,essv9775866,essv9774866,essv9770866,essv9780866,essv9773977,essv9781200,essv9771311,essv9779089,essv9780089,essv9776866,essv9768755,essv9777421,essv9777867,essv9774088,essv9772755,essv9769978,essv9779644,essv9776088,essv9778311,essv9779755,essv9775088,essv9777643,essv9769200,essv9777088,essv9769644,essv9771644,essv9780200,essv9774755,essv9773866,essv9770977,essv9773311,essv9770422,essv9780644,essv9781311,essv9771089,essv9773644,essv9776421,essv9772866,essv9780977,essv9778644,essv9778422,essv9778867,essv9775199,essv9776199,essv9772311,essv9772422,essv9772200,essv9776310,essv9779978,essv9778200,essv9769533,essv9775421,essv9769755,essv9775533,essv9771533,essv9770644,essv9780311,essv9772088,essv9771422,essv9774199,essv9772977,essv9778755,essv9770755,essv9775644,essv9770089,essv9780422,essv9773422,essv9779200,essv9771200 M 873 0 117 GNB1 4000046CJ,400012CJ,400053LE,400061DE,400066MA,400072GR,400101EH,400113LD,400127MD,400136DM,400138LA,400148MS,400150SS,400152MR,400168HC,400171BJ,400186WC,400205SP,400206SC,400207HN,400227MM,400236DB,400240HJ,400267GD,400278PD,400302HW,400320RN,400340CD,400344DR,400353ML,400361HC,400453LN,400493KH,400496BL,400545EW,400564SN,400588BE,400595CP,400603CJ,400611GG,400618GC,400619MP,400643LD,400649PS,400671PP,400695PH,400717BD,400749VW,400778SR,400788PV,400811SK,400817MB,400818BL,400844GP,400866RR,400881GS,400953MR,401027KW,401029SD,401050GS,401052BM,401100SJ,401112LG,401143LK,401162TM,401175FA,401192MJ,401200BD,401203MP,401249TP,401258PC,401261HD,401265CB,401295HB,401355CD,401359HF,401384BP,401410BJ,401413RG,401448BJ,401458RT,401468RL,401478RD,401487FW,401505WI,401514BA,401536BD,401567BD,401582GG,401586RS,401594MP,401646MC,401661HD,401673DM,401719RL,401725MR,401762SD,401778CB,401799DP,401801LA,401817MC,401818PC,401822TL,401832MC,401873BK,401879HJ,401898DS,401927SK,401942MP,401943KA,401950MD,401962BK,402022SM,402061PI,402064DC,402073LQ,402074RR esv3577695 1 1774335 1781927 CNV loss Uddin_et_al_2014 25503493 SNP array essv9781977,essv9781866,essv9781644,essv9781755 M 873 0 4 GNB1 401346FJ,401347DH,401726LW,401932GN nsv4038832 1 1775000 1796000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851726 M 10847 0 1 GNB1 nsv6331608 1 1775260 1786252 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054421 M 19652 0 1 GNB1 nsv4032475 1 1775386 1904035 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964176 M 10847 1 0 CALML6,GNB1,KIAA1751,TMEM52 nsv4037226 1 1778047 1779519 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849578 M 10847 0 1 GNB1 nsv4534099 1 1778551 1778552 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028305 M 10847 1 0 GNB1 nsv5688434 1 1778568 1778568 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175557 M 3202 1 0 GNB1 nsv6540677 1 1781658 1782801 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249532 M 19652 0 0 GNB1 nsv4033888 1 1783595 1783767 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849586 M 10847 0 1 GNB1 nsv4459450 1 1784565 1784566 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028407 M 10847 1 0 GNB1 nsv4033964 1 1786352 1793368 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849595 M 10847 0 1 GNB1 nsv4050810 1 1786575 1787084 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849602 M 10847 0 1 GNB1 nsv478764 1 1787832 1787832 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015949 M 9 1 0 GNB1 NA18507 nsv1075000 1 1788687 1788744 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770055 M 1 0 1 GNB1 KWP1 nsv1113059 1 1788688 1788744 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969732,nssv3995081 M 2 0 2 GNB1 KWS1,KWS2 nsv6057940 1 1790299 1790299 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528762 M 405 1 0 GNB1 nsv4459595 1 1790299 1790300 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029025 M 10847 1 0 GNB1 nsv4050679 1 1791988 1793376 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849612 M 10847 0 1 GNB1 nsv5949052 1 1795775 1795775 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361425 M 914 1 0 GNB1 nsv6316703 1 1796872 1800035 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054293 M 19652 0 1 GNB1 nsv6332509 1 1801211 1802413 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054332 M 19652 0 1 GNB1 nsv6536090 1 1806049 1806626 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249559 M 19652 0 0 GNB1 esv3556343 1 1816203 1817099 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9755090 M 767 0 1 GNB1 nsv5417277 1 1816207 1817081 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902523 M 3202 0 1 GNB1 nsv6324128 1 1816298 1817059 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055359 M 19652 0 1 GNB1 nsv6547420 1 1816418 1816734 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249573 M 19652 0 0 GNB1 nsv6320709 1 1816540 1817339 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055366 M 19652 0 1 GNB1 nsv6552018 1 1816574 1817147 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249574 M 19652 0 0 GNB1 nsv6551610 1 1816790 1817296 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249575 M 19652 0 0 GNB1 nsv3521335 1 1817344 1817344 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382103 M 9 1 0 GNB1 NA19240 nsv5605494 1 1817344 1817344 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062122 M 35 1 0 GNB1 NA19238 nsv4459611 1 1817344 1817345 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029124 M 10847 1 0 GNB1 nsv3320809 1 1817345 1817345 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14483281 M 14 1 0 GNB1 NA19240 nsv5691389 1 1817357 1817357 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175056,nssv17203572 M 3202 2 0 GNB1 nsv5396419 1 1817357 1817392 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902528 M 3202 1 0 GNB1 nsv10272 1 1820454 1823312 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv26884,nssv29276,nssv28034,nssv28044,nssv18097,nssv21434,nssv24619,nssv28930,nssv28535,nssv21440,nssv24607,nssv21432,nssv28028,nssv21425,nssv24617,nssv21437,nssv21422 M 31 17 0 GNB1 NA07029,NA07048,NA10847,NA10863,NA11830,NA12740,NA12872,NA18502,NA18504,NA18517,NA18552,NA18563,NA18572,NA18853,NA19007,NA19144,NA19173 nsv5692989 1 1820494 1820494 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203573,nssv17176248 M 3202 2 0 GNB1 nsv5399353 1 1820509 1820545 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903490 M 3202 1 0 GNB1 nsv951400 1 1820801 1875200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997204 M 1 0 1 CALML6,GNB1,TMEM52 BILGI_BIOE nsv1118095 1 1820900 1823400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980314 M 2 0 1 GNB1 KWS1 nsv1121741 1 1821600 1823300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968390 M 2 0 1 GNB1 KWS2 nsv4052018 1 1824001 1827794 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849628 M 10847 0 1 "" nsv6324970 1 1824001 1827794 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054992 M 19652 0 1 "" nsv6317028 1 1828042 1828554 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055110 M 19652 0 1 "" dgv17e59 1 1829392 1830490 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3359268,esv3369206 M 185 2 0 "" NA19239,NA19240 nsv5424923 1 1830797 1830854 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903491 M 3202 1 0 "" nsv5877514 1 1833788 1840854 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359124 M 914 0 1 "" nsv6318195 1 1833841 1835437 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055222 M 19652 0 1 "" nsv5828468 1 1833853 1835652 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460246 M 914 0 0 "" nsv5982127 1 1834402 1835223 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525071 M 405 0 1 "" nsv5885327 1 1835048 1843683 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368246 M 914 0 1 "" nsv6551260 1 1835164 1835933 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249608 M 19652 0 0 "" nsv5828910 1 1835253 1840832 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454289 M 914 0 0 "" esv3667766 1 1836988 1837156 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490194 M 20 0 0 "" nsv5433209 1 1836994 1843669 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903493 M 3202 1 0 "" nsv5612343 1 1837096 1837096 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062154 M 35 1 0 "" HG00732 nsv5424728 1 1843798 1845143 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903494 M 3202 0 1 "" nsv4050299 1 1844602 1845230 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964191 M 10847 1 0 "" nsv10383 1 1846615 1859881 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv24603 M 31 1 0 CALML6,TMEM52 NA18502 nsv6319677 1 1855367 1939194 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199836 M 19652 1 0 KIAA1751 nsv4754815 1 1855624 1855624 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288250 M 25 1 0 "" nsv3539110 1 1855662 1855662 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375581,nssv14440829 M 9 2 0 "" HG00733,NA19240 nsv3931408 1 1855662 1855662 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192027 M 1 1 0 "" HG002 nsv4444229 1 1855662 1855662 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765368 M 1 1 0 "" nsv5607796 1 1855662 1855662 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061854 M 35 1 0 "" HG00731 nsv5950557 1 1855662 1855662 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366725 M 914 1 0 "" nsv2800214 1 1855663 1855663 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685255 M 2 1 0 "" nsv3320835 1 1855663 1855663 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484907,nssv14487684,nssv14486265,nssv14488765,nssv14488089,nssv14479245,nssv14478897,nssv14478051,nssv14476884,nssv14485488,nssv14482740,nssv14484469 M 14 12 0 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv6053159 1 1855667 1855667 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529788 M 405 1 0 "" nsv5539750 1 1855672 1855713 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903495 M 3202 1 0 "" nsv6040972 1 1856439 1856439 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531928 M 405 1 0 "" nsv5982241 1 1856477 1856756 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533184 M 405 0 1 "" nsv3219993 1 1857052 1872169 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14269652,nssv14269651,nssv14269650 M 9 3 0 "" HG00514,HG00733,NA19240 nsv5565085 1 1859548 1859613 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061858 M 35 0 1 "" HG02818 nsv3321456 1 1859549 1859614 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477641 M 14 0 1 "" HG02818 nsv5982139 1 1859552 1859617 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533430 M 405 0 1 "" nsv5982140 1 1859605 1859669 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519622 M 405 0 1 "" esv3667915 1 1859623 1859691 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490327 M 20 0 0 "" nsv6058038 1 1859629 1859629 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518319 M 405 1 0 "" esv2587332 1 1860515 1860964 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5262341 M 1 1 0 "" NA18507 esv3380384 1 1860619 1860968 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652057 M 185 1 0 "" NA19240 nsv3192339 1 1860698 1863181 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14361876 M 9 1 0 "" NA19238 nsv512709 1 1860724 1860864 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625333 M 1 1 0 "" 1 nsv4444230 1 1860802 1860802 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761137 M 1 1 0 "" nsv5982070 1 1860803 1860893 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17536352 M 405 1 0 "" nsv4767347 1 1860807 1860807 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16260514 M 25 1 0 "" nsv3541529 1 1860823 1860823 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390785,nssv14440831 M 9 2 0 "" HG00733,NA19240 nsv3944975 1 1860823 1860823 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192028 M 1 1 0 "" HG002 nsv5605763 1 1860823 1860823 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061863,nssv17061862 M 35 2 0 "" HG00731,HG03065 nsv6042434 1 1860823 1860823 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524063 M 405 1 0 "" nsv2800862 1 1860824 1860824 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13696016 M 2 1 0 "" nsv3321282 1 1860824 1860824 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484264,nssv14491564,nssv14476462,nssv14479826,nssv14477428,nssv14479876,nssv14472447,nssv14484972,nssv14486360,nssv14472462,nssv14490624 M 14 11 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,NA19240,NA19434 nsv3051642 1 1860826 1860826 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14023701 M 2 1 0 "" NA12878 nsv6326569 1 1862632 1863265 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199846 M 19652 1 0 "" dgv27n152 1 1863582 1863959 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3210103,nsv3525707 M 9 0 5 "" HG00512,HG00732,HG00733,NA19239,NA19240 nsv5875109 1 1863617 1864648 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362825 M 914 0 1 "" nsv5982246 1 1863653 1863743 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519447 M 405 0 1 "" nsv5828813 1 1863663 1865062 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464303 M 914 0 0 "" nsv5828814 1 1863664 1866062 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469600 M 914 0 0 "" nsv3530466 1 1864007 1864007 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388321,nssv14413466 M 9 2 0 "" HG00514,NA19240 nsv4747013 1 1864154 1864278 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289785 M 25 0 1 "" nsv1077279 1 1865399 1867100 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768630 M 1 1 0 "" KWP1 nsv4448713 1 1865644 1866241 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15766027 M 1 0 1 "" nsv6052042 1 1865665 1865665 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524313 M 405 1 0 "" nsv4757225 1 1865688 1865688 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16285688 M 25 1 0 "" nsv3320840 1 1865700 1865700 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482678 M 14 1 0 "" HG00514 nsv5608766 1 1865718 1865718 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061872 M 35 1 0 "" HG00731 nsv2801113 1 1865719 1865719 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687318 M 2 1 0 "" nsv3321286 1 1865719 1865719 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491153 M 14 1 0 "" CHM1 nsv3540257 1 1865744 1865744 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440832 M 9 1 0 "" HG00733 nsv3056773 1 1865752 1865752 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14023655 M 2 1 0 "" CHM1 nsv6059807 1 1865753 1865753 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532770 M 405 1 0 "" nsv3541135 1 1865762 1865762 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413467 M 9 1 0 "" HG00514 nsv5982073 1 1865788 1865926 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528843 M 405 0 1 "" nsv4744364 1 1866159 1866781 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16267823 M 25 0 1 "" nsv1153293 1 1866185 1866279 CNV insertion John_et_al_2014 26484159 Sequencing nssv4001213 M 1 1 0 "" KWB1 esv6744 1 1866253 1867224 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29185 M 1 0 0 "" nsv3561316 1 1866260 1866260 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14361190,nssv14361192,nssv14361191 M 9 3 0 "" HG00513,HG00514,NA19239 nsv3279976 1 1866270 1866604 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14431381 M 9 0 1 "" HG00514 esv5421 1 1866304 1867172 CNV loss Wang_et_al_2008 18987735 Sequencing essv27862 M 1 0 1 "" YH nsv2800863 1 1866309 1866737 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13685651 M 2 0 1 "" nsv3321464 1 1866309 1866737 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480423,nssv14487060,nssv14489119,nssv14487702,nssv14483380,nssv14480329,nssv14486189,nssv14477188 M 14 0 8 "" CHM13,HG00268,HG01352,HG02059,HG02106,HG02818,HG04217,NA19434 nsv5879110 1 1866333 1866466 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360606 M 914 0 1 "" esv3557454 1 1866340 1867041 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9756201 M 767 0 1 "" nsv1130626 1 1866342 1867011 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966939 M 2 0 1 "" KWS2 nsv3202363 1 1866362 1867010 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14363167,nssv14363164,nssv14363165,nssv14363168,nssv14363166 M 9 0 5 "" HG00512,HG00513,HG00514,HG00731,NA19239 nsv5883484 1 1866362 1867022 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353946 M 914 0 1 "" nsv6317798 1 1866362 1867023 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055243 M 19652 0 1 "" esv3683085 1 1866362 1867024 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467853 M 20 0 1 "" nsv1148856 1 1866373 1867034 CNV deletion John_et_al_2014 26484159 Sequencing nssv3997641 M 1 0 1 "" KWB1 nsv4049922 1 1866375 1866977 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849644 M 10847 0 1 "" nsv5982145 1 1866428 1866997 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526339 M 405 0 1 "" nsv5582282 1 1866428 1867022 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061877 M 35 0 1 "" HG00731 nsv5416202 1 1866476 1866977 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903522 M 3202 0 1 "" nsv5875658 1 1866628 1867022 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367815 M 914 0 1 "" nsv3321465 1 1866644 1866843 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485961 M 14 0 1 "" HG04217 nsv3177932 1 1866671 1866739 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14431706 M 9 0 0 "" HG00514 nsv2800218 1 1866885 1867012 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13687073 M 2 0 1 "" nsv3321035 1 1866885 1867012 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476466,nssv14486151,nssv14479957,nssv14478089,nssv14480663,nssv14491872,nssv14477319,nssv14473397 M 14 0 8 "" CHM13,HG00268,HG01352,HG02059,HG02106,HG02818,HG04217,NA19434 nsv3281325 1 1866886 1867014 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14431919 M 9 0 1 "" HG00514 nsv5679072 1 1868696 1868696 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17178999 M 3202 1 0 "" esv3385307 1 1869192 1870790 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692082 M 185 1 0 "" NA19240 nsv4035119 1 1869595 1869678 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849652 M 10847 0 1 "" dgv11n166 1 1869662 1869761 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4035519,nsv4517658 M 10847 2 0 "" nsv4040647 1 1870595 1870658 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849661 M 10847 0 1 "" nsv6324135 1 1872353 1876988 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056264 M 19652 0 1 "" nsv4535664 1 1872561 1872562 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029772 M 10847 1 0 "" nsv5959044 1 1872574 1872574 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17365008 M 914 1 0 "" nsv5539846 1 1872577 1872612 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903555 M 3202 1 0 "" nsv4041016 1 1875570 1875683 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849671 M 10847 0 1 "" nsv5982154 1 1875620 1875691 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533424 M 405 0 1 "" nsv5553688 1 1879565 1879565 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903565 M 3202 1 0 "" nsv5978871 1 1879597 1985719 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17358729 M 914 0 0 GABRD,KIAA1751,PRKCZ nsv6317803 1 1879671 1880061 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056053 M 19652 0 1 "" esv2663496 1 1879774 1880090 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6123431,essv6133148,essv5534277,essv6123824,essv5724864,essv6416178 M 1151 0 6 "" NA18505,NA18868,NA19236,NA19257,NA19469,NA19470 nsv4045059 1 1879796 1880052 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849688 M 10847 0 1 "" esv3664555 1 1880039 1880039 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487302 M 20 1 0 "" nsv4753229 1 1880361 1880361 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16296051 M 25 1 0 "" esv3671041 1 1880373 1880373 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493141 M 20 1 0 "" nsv5620013 1 1880373 1880373 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062032 M 35 1 0 "" HG00731 nsv5963250 1 1880373 1880373 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353524 M 914 1 0 "" nsv2801248 1 1880374 1880374 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679686 M 2 1 0 "" nsv3320853 1 1880374 1880374 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484239,nssv14481956,nssv14486309,nssv14486011,nssv14487027,nssv14482097,nssv14491010,nssv14486790,nssv14483058,nssv14485959,nssv14477875 M 14 11 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 nsv5543232 1 1880375 1880386 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903576 M 3202 1 0 "" nsv3536175 1 1880377 1880377 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413468 M 9 1 0 "" HG00514 nsv3937843 1 1880381 1880381 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192854 M 1 1 0 "" HG002 nsv3535309 1 1880386 1880386 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380908 M 9 1 0 "" NA19240 nsv4444231 1 1880386 1880386 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757610 M 1 1 0 "" nsv2801498 1 1880387 1880387 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679089 M 2 1 0 "" nsv6046951 1 1880387 1880387 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531345 M 405 1 0 "" nsv4048075 1 1880414 1880556 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964224 M 10847 1 0 "" nsv5618258 1 1880444 1880444 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062033 M 35 1 0 "" NA12329 nsv5420310 1 1880470 1886409 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903577 M 3202 0 1 KIAA1751 nsv3530976 1 1880495 1880495 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413469 M 9 1 0 "" HG00514 nsv5619111 1 1880495 1880495 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062034 M 35 1 0 "" HG00731 nsv3321475 1 1880496 1880496 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486541,nssv14473907 M 14 2 0 "" HG00733,NA12878 nsv3539830 1 1880537 1880537 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440834 M 9 1 0 "" HG00733 nsv6318626 1 1881847 1883459 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201984 M 19652 1 0 "" nsv4046038 1 1885074 1885196 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850264 M 10847 0 1 KIAA1751 nsv5881548 1 1886465 1886518 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17354279 M 914 1 0 KIAA1751 nsv6041466 1 1886525 1886525 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526614 M 405 1 0 KIAA1751 nsv834446 1 1892043 2087874 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444073 M 95 0 1 GABRD,KIAA1751,PRKCZ nsv6333603 1 1893660 1894762 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055574 M 19652 0 1 KIAA1751 nsv4037967 1 1896596 1896689 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850272 M 10847 0 1 KIAA1751 esv2381744 1 1899196 1899525 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4505691 M 1 0 1 KIAA1751 NA18507 nsv1074477 1 1899386 1899486 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769548 M 1 0 1 KIAA1751 KWP1 nsv1113060 1 1899387 1899486 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967953 M 2 0 1 KIAA1751 KWS2 nsv3047885 1 1900355 1900423 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14031844 M 2 0 1 KIAA1751 NA12878 nsv4733454 1 1900360 1900430 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278804 M 25 0 1 KIAA1751 nsv5568129 1 1900363 1900431 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062078 M 35 0 1 KIAA1751 HG00731 nsv3525212 1 1900363 1900432 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14364811,nssv14365437 M 9 0 2 KIAA1751 HG00731,HG00733 esv3683170 1 1900363 1900433 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467930 M 20 0 1 KIAA1751 nsv5982089 1 1900363 1900433 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518694 M 405 0 1 KIAA1751 nsv5875936 1 1900374 1900442 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363178 M 914 0 1 KIAA1751 nsv3174961 1 1900377 1900431 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14456561 M 9 0 0 KIAA1751 HG00733 nsv3320863 1 1900380 1900448 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483591,nssv14480956 M 14 0 2 KIAA1751 NA12878,NA19434 nsv5575047 1 1900730 1900799 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062081 M 35 0 1 KIAA1751 HG02011 nsv6318622 1 1901962 1904304 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056365 M 19652 0 1 KIAA1751 esv3385175 1 1902192 1902990 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692084 M 185 1 0 KIAA1751 NA19240 nsv4518315 1 1902356 1902797 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964233 M 10847 1 0 KIAA1751 nsv5579979 1 1902379 1902437 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062556 M 35 0 1 KIAA1751 NA19239 nsv5884021 1 1902379 1902437 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368258 M 914 0 1 KIAA1751 dgv12n166 1 1902466 1902827 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4042968,nsv4044447 M 10847 2 0 KIAA1751 nsv6332551 1 1902546 1902827 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202308 M 19652 1 0 KIAA1751 nsv5878709 1 1902566 1902817 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17361093 M 914 1 0 KIAA1751 nsv4037961 1 1902749 1902818 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850282 M 10847 0 1 KIAA1751 nsv5876280 1 1908219 1909523 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367978 M 914 0 1 KIAA1751 nsv3187598 1 1909491 1914615 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14456917,nssv14461290 M 9 0 0 KIAA1751 HG00733 nsv6325381 1 1910240 1912939 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202320 M 19652 1 0 KIAA1751 dgv43n54 1 1910371 1911217 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545043,nsv545042 M 17421 0 2 KIAA1751 esv25575 1 1910377 1913930 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv21134,esv13192,esv17032 M 40 2 20 KIAA1751 NA06985,NA07037,NA11993,NA12044,NA12156,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18505,NA18517,NA18858,NA18861,NA18916,NA19114,NA19147,NA19190,NA19257 nsv5982487 1 1910411 1910470 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524528 M 405 0 1 KIAA1751 nsv5573621 1 1910432 1910605 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062329 M 35 0 1 KIAA1751 HG00731 nsv4732817 1 1910451 1910627 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16271527 M 25 0 1 KIAA1751 nsv5982023 1 1910483 1910652 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520317 M 405 0 1 KIAA1751 nsv5420320 1 1910490 1910796 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903579 M 3202 0 1 KIAA1751 nsv3321057 1 1910491 1910606 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474693 M 14 0 1 KIAA1751 NA19434 nsv545044 1 1910578 1911319 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708640 M 17421 1 0 KIAA1751 nsv5982488 1 1910623 1910679 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521662 M 405 0 1 KIAA1751 nsv3321058 1 1910723 1910780 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489822 M 14 0 1 KIAA1751 NA19434 nsv3320865 1 1910787 1910903 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480118 M 14 0 1 KIAA1751 NA19434 nsv6138625 1 1910806 1911096 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903580 M 3202 0 1 KIAA1751 nsv5982161 1 1910850 1910905 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529718 M 405 0 1 KIAA1751 nsv5609541 1 1910854 1910854 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062331 M 35 1 0 KIAA1751 HG03486 nsv5621322 1 1910956 1910956 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062332 M 35 1 0 KIAA1751 HG00096 nsv6138181 1 1910971 1911319 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903581 M 3202 0 1 KIAA1751 nsv5982162 1 1910999 1911098 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534149 M 405 0 1 KIAA1751 nsv5578870 1 1911014 1911303 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062333 M 35 0 1 KIAA1751 HG00731 nsv5982092 1 1911020 1911331 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527544 M 405 0 1 KIAA1751 esv2668919 1 1911022 1911376 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5427294,essv6198815,essv6000581,essv5953733,essv6458298,essv5942871,essv6527584,essv6153321,essv5571234,essv6234188,essv5995024,essv5640367,essv6155123,essv5776129,essv5513674,essv6379496,essv6058936,essv5826171,essv5894414,essv5959123,essv5417396,essv5940360,essv6348591,essv5769142,essv6587683,essv6156802,essv5788407,essv5966586,essv5660200,essv5440413,essv5675482,essv6114367,essv6255706,essv5492663,essv5908516,essv5999401,essv6515669,essv5935868,essv6098453,essv6104627,essv6043891,essv6060675,essv5430434,essv5706855,essv5685603,essv5983187,essv5674802,essv6189086,essv6201401,essv6033207 M 1151 0 50 KIAA1751 HG00159,HG00319,HG00324,HG00534,HG01047,HG01048,HG01055,HG01079,HG01101,HG01170,HG01250,HG01378,HG01384,HG01437,HG01440,HG01488,HG01492,NA07051,NA07346,NA18486,NA18510,NA18550,NA18552,NA18566,NA18570,NA18577,NA18582,NA18619,NA18934,NA18977,NA19007,NA19313,NA19328,NA19375,NA19376,NA19379,NA19390,NA19391,NA19394,NA19452,NA19712,NA19789,NA20340,NA20341,NA20344,NA20503,NA20540,NA20761,NA20795,NA20803 nsv3321486 1 1911039 1911096 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485486 M 14 0 1 KIAA1751 NA19434 nsv3321059 1 1911153 1911326 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490520 M 14 0 1 KIAA1751 NA19434 nsv3561318 1 1911154 1911154 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14365033,nssv14365031,nssv14365032,nssv14365030 M 9 4 0 KIAA1751 HG00732,NA19238,NA19239,NA19240 nsv5570396 1 1911497 1911713 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062335 M 35 0 1 KIAA1751 HG00731 nsv6138464 1 1911497 1911787 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903582 M 3202 0 1 KIAA1751 nsv3321309 1 1911499 1911569 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472664,nssv14482532 M 14 0 2 KIAA1751 HG00733,NA19434 nsv3321308 1 1911499 1911642 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491560 M 14 0 1 KIAA1751 NA19434 nsv4735828 1 1911499 1911717 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16271601 M 25 0 1 KIAA1751 nsv5982163 1 1911518 1911732 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527965 M 405 0 1 KIAA1751 nsv5583057 1 1911533 1911605 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062336 M 35 0 1 KIAA1751 HG03732 esv3559676 1 1911607 1911879 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758423 M 767 0 1 KIAA1751 nsv5578259 1 1911799 1911871 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062338 M 35 0 1 KIAA1751 HG03486 nsv3321060 1 1911800 1911872 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484601,nssv14477214 M 14 0 2 KIAA1751 HG00733,NA19434 nsv4043917 1 1912834 1913401 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964268 M 10847 1 0 KIAA1751 nsv5573861 1 1912838 1913258 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062339 M 35 0 1 KIAA1751 HG03486 nsv3321310 1 1912872 1913326 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489344 M 14 0 1 KIAA1751 HX1 nsv5982093 1 1912875 1913039 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527113 M 405 0 1 KIAA1751 nsv5982094 1 1912892 1913348 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533368 M 405 0 1 KIAA1751 nsv6041218 1 1912895 1912895 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521566 M 405 1 0 KIAA1751 nsv5425878 1 1912910 1913192 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903583 M 3202 0 1 KIAA1751 nsv5570717 1 1912912 1913017 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062340 M 35 0 1 KIAA1751 HG03486 esv994854 1 1912935 1913740 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586225 M 3 0 1 KIAA1751 HuRef nsv6138416 1 1912940 1913505 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903584 M 3202 1 0 KIAA1751 nsv6058121 1 1913000 1913000 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527696 M 405 1 0 KIAA1751 nsv6054949 1 1913062 1913062 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532512 M 405 1 0 KIAA1751 nsv5982024 1 1913087 1913402 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525899 M 405 0 1 KIAA1751 nsv4517288 1 1913140 1913843 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849420 M 10847 0 1 KIAA1751 nsv5609334 1 1913151 1913151 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062341 M 35 1 0 KIAA1751 HG00731 nsv6058888 1 1913182 1913182 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529146 M 405 1 0 KIAA1751 nsv4750707 1 1913195 1913195 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16287712 M 25 1 0 KIAA1751 nsv4748411 1 1913195 1913351 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16276581 M 25 1 0 KIAA1751 nsv5568419 1 1913237 1913622 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062342 M 35 0 1 KIAA1751 HG00732 nsv3926580 1 1913259 1913259 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192861 M 1 1 0 KIAA1751 HG002 nsv2800230 1 1913260 1913260 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691734,nssv13693679 M 2 2 0 KIAA1751 nsv3320867 1 1913260 1913260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472392,nssv14481517,nssv14480449,nssv14479139,nssv14481448,nssv14475840,nssv14491687,nssv14479468,nssv14473688 M 14 9 0 KIAA1751 CHM1,CHM13,HG00514,HG00733,HG02059,HG02818,HG04217,NA19240,NA19434 nsv5982164 1 1913263 1913359 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518854 M 405 0 1 KIAA1751 nsv6054473 1 1913274 1913274 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531863 M 405 1 0 KIAA1751 nsv3539390 1 1913302 1913302 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413470,nssv14372790 M 9 2 0 KIAA1751 HG00514,NA19240 nsv3321311 1 1913317 1913317 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480297 M 14 1 0 KIAA1751 HG00268 nsv5982165 1 1913319 1913594 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534237 M 405 0 1 KIAA1751 esv1576320 1 1913325 1913325 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4312046 M 2 1 0 KIAA1751 HuRef nsv5982248 1 1913339 1913443 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527184 M 405 0 1 KIAA1751 nsv3320868 1 1913362 1913362 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477040 M 14 1 0 KIAA1751 HG00733 nsv6045368 1 1913411 1913411 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535384 M 405 1 0 KIAA1751 nsv6045331 1 1913429 1913429 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525376 M 405 1 0 KIAA1751 nsv5607249 1 1913483 1913483 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062343 M 35 1 0 KIAA1751 HG00731 nsv3321061 1 1913484 1913484 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488923 M 14 1 0 KIAA1751 NA19434 nsv6053125 1 1913485 1913485 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519746 M 405 1 0 KIAA1751 nsv5982166 1 1913525 1913631 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528304 M 405 0 1 KIAA1751 nsv5982490 1 1913609 1913676 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523538 M 405 0 1 KIAA1751 nsv3321062 1 1913624 1913624 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481060 M 14 1 0 KIAA1751 HX1 nsv5624012 1 1913658 1913658 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062344 M 35 1 0 KIAA1751 HG00731 nsv6053481 1 1913660 1913660 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527413 M 405 1 0 KIAA1751 nsv3321312 1 1913665 1913665 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486777 M 14 1 0 KIAA1751 NA19434 nsv5982167 1 1913669 1913736 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526041 M 405 0 1 KIAA1751 esv3664776 1 1915428 1915428 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487501 M 20 1 0 KIAA1751 nsv4037653 1 1916012 1916134 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962616 M 10847 1 0 KIAA1751 nsv5982250 1 1919374 1919455 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533894 M 405 0 1 KIAA1751 nsv4035443 1 1919376 1919455 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849430 M 10847 0 1 KIAA1751 nsv6329416 1 1922840 1924539 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056876 M 19652 0 1 KIAA1751 nsv6331387 1 1922860 1923361 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056878 M 19652 0 1 KIAA1751 esv3585019 1 1922946 1924578 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841577,essv9841578,essv9841576 M 2504 0 3 KIAA1751 HG02330,HG03824,NA20506 nsv958160 1 1922983 1924512 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005154 M 1 0 1 KIAA1751 BILGI_BIOE nsv5418029 1 1923017 1924520 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903586 M 3202 0 1 KIAA1751 nsv6319636 1 1923254 1930984 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056470 M 19652 0 1 KIAA1751 nsv5417571 1 1924405 1925235 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903587 M 3202 0 1 KIAA1751 nsv6544407 1 1924601 1924761 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248217 M 19652 0 0 KIAA1751 nsv5982494 1 1924615 1925395 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530622 M 405 0 1 KIAA1751 nsv4037281 1 1925000 1930000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849437 M 10847 0 1 KIAA1751 esv3671088 1 1925143 1925143 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493184 M 20 1 0 KIAA1751 nsv3557948 1 1925143 1925143 CNV mobile element insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440835 M 9 1 0 KIAA1751 HG00733 nsv3926260 1 1925143 1925143 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192894 M 1 1 0 KIAA1751 HG002 nsv4444232 1 1925143 1925143 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15756364 M 1 1 0 KIAA1751 nsv5615943 1 1925143 1925143 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062376 M 35 1 0 KIAA1751 HG00731 nsv5958668 1 1925143 1925143 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353206 M 914 1 0 KIAA1751 nsv2801254 1 1925144 1925144 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683285 M 2 1 0 KIAA1751 nsv3558994 1 1925144 1925144 CNV mobile element insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386818,nssv14413471 M 9 2 0 KIAA1751 HG00514,NA19240 nsv6043460 1 1925144 1925144 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519761 M 405 1 0 KIAA1751 nsv2800962 1 1925145 1925145 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695063 M 2 1 0 KIAA1751 nsv3321490 1 1925145 1925145 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14481963,nssv14477688,nssv14488152,nssv14489037,nssv14491471,nssv14486148,nssv14483900,nssv14477429,nssv14476794,nssv14490911,nssv14483637,nssv14479822,nssv14483199,nssv14489634 M 14 14 0 KIAA1751 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3561618 1 1925152 1925152 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14362095,nssv14362094 M 9 2 0 KIAA1751 HG00731,HG00732 nsv4752862 1 1925155 1925155 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16270900 M 25 1 0 KIAA1751 nsv4042950 1 1925156 1926666 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849448 M 10847 0 1 KIAA1751 nsv5828989 1 1925156 1926710 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461385 M 914 0 0 KIAA1751 esv1718201 1 1925158 1925158 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4140788 M 2 1 0 KIAA1751 HuRef nsv3064050 1 1925159 1925159 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033576 M 2 1 0 KIAA1751 NA12878 esv3671099 1 1925184 1925184 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493194 M 20 1 0 KIAA1751 nsv5416409 1 1925184 1926666 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903589 M 3202 0 1 KIAA1751 nsv5886875 1 1925267 1926582 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365522 M 914 0 1 KIAA1751 nsv6324067 1 1925291 1926757 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056502 M 19652 0 1 KIAA1751 nsv4047034 1 1925505 1927192 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849456 M 10847 0 1 KIAA1751 nsv4038352 1 1928000 1934000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962625 M 10847 1 0 KIAA1751 nsv5417768 1 1928044 1928633 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903590 M 3202 0 1 KIAA1751 nsv4459856 1 1929202 1929203 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025984 M 10847 1 0 KIAA1751 nsv6331601 1 1930117 1931324 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056575 M 19652 0 1 KIAA1751 nsv5982397 1 1930286 1931572 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530264 M 405 0 1 KIAA1751 esv3664968 1 1931349 1931349 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487675 M 20 1 0 KIAA1751 nsv4747764 1 1932912 1933019 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16280540 M 25 0 1 KIAA1751 nsv5982399 1 1932940 1933042 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528608 M 405 0 1 KIAA1751 nsv4460167 1 1933738 1933739 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026639 M 10847 1 0 KIAA1751 nsv6319185 1 1936113 1937069 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056897 M 19652 0 1 "" nsv6331732 1 1940253 1944407 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056924 M 19652 0 1 "" nsv6322380 1 1943895 1944303 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056626 M 19652 0 1 "" nsv6319211 1 1944979 1947710 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056632 M 19652 0 1 "" nsv5982404 1 1945431 1945497 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519970 M 405 0 1 "" nsv951425 1 1949601 2043700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997215 M 1 0 1 GABRD,PRKCZ BILGI_BIOE nsv4750844 1 1950617 1950617 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295848 M 25 1 0 "" nsv3535449 1 1950659 1950659 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440836 M 9 1 0 "" HG00733 nsv3945747 1 1950659 1950659 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192895 M 1 1 0 "" HG002 nsv4444233 1 1950659 1950659 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759802 M 1 1 0 "" nsv5611691 1 1950659 1950659 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062423 M 35 1 0 "" HG00731 nsv2801257 1 1950660 1950660 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13708127 M 2 1 0 "" nsv3321086 1 1950660 1950660 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472463,nssv14486342,nssv14490512,nssv14480450,nssv14491628,nssv14476938,nssv14485803,nssv14484087,nssv14490372,nssv14485649,nssv14484537,nssv14472832,nssv14481304 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3531261 1 1950660 1950660 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413473 M 9 1 0 "" HG00514 nsv6044337 1 1950660 1950660 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533985 M 405 1 0 "" nsv3053515 1 1950662 1950662 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14026822 M 2 1 0 "" NA12878 nsv3537109 1 1950667 1950667 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374518 M 9 1 0 "" NA19240 esv3577697 1 1959613 1976788 CNV loss Uddin_et_al_2014 25503493 SNP array essv9782088 M 873 0 1 GABRD 400719TM nsv4535232 1 1959740 1959741 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026708 M 10847 1 0 GABRD nsv6044724 1 1959765 1959765 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526384 M 405 1 0 GABRD nsv3561446 1 1963158 1963158 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14364110 M 9 1 0 "" HG00513 nsv6318759 1 1972043 1974066 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056998 M 19652 0 1 "" nsv1143429 1 1981600 1982500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980626 M 2 0 1 PRKCZ KWS1 nsv5867584 1 1982800 1982872 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364301 M 914 0 1 PRKCZ nsv6330084 1 1984702 1986581 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201863 M 19652 1 0 PRKCZ nsv5428921 1 1984731 1986632 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903591 M 3202 1 0 PRKCZ nsv4036359 1 1984755 1986625 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962632 M 10847 1 0 PRKCZ nsv5872568 1 1984765 1986607 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17351840 M 914 1 0 PRKCZ nsv822920 1 1988267 1990556 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436323 M 31 1 0 PRKCZ NA18542 nsv5726585 1 1990702 1990702 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236187 M 3202 1 0 PRKCZ nsv5554200 1 1990702 1990753 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903592 M 3202 1 0 PRKCZ nsv5537918 1 1991838 1991864 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903596 M 3202 1 0 PRKCZ esv3683330 1 1991852 1991919 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468074 M 20 0 1 PRKCZ nsv5584335 1 1991888 1991953 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062111 M 35 0 1 PRKCZ HG02011 nsv5887242 1 1991888 1991953 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350276 M 914 0 1 PRKCZ nsv5982427 1 1991888 1991956 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533127 M 405 0 1 PRKCZ nsv3321535 1 1991890 1991955 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478052 M 14 0 1 PRKCZ HG04217 nsv4747804 1 1991895 1991962 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16293033 M 25 0 1 PRKCZ nsv2520 1 1994733 2021060 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1058 M 9 1 0 PRKCZ NA19240 nsv4754707 1 2002489 2002489 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16287107 M 25 1 0 PRKCZ nsv5957724 1 2002490 2002490 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357791 M 914 1 0 PRKCZ nsv6052172 1 2002500 2002500 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519019 M 405 1 0 PRKCZ nsv509479 1 2003750 2108437 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619761,nssv619762 M 4 1 0 PRKCZ NA10860 nsv4536263 1 2011764 2011765 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028559 M 10847 1 0 PRKCZ nsv4037975 1 2012300 2012377 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849482 M 10847 0 1 PRKCZ nsv4035400 1 2016124 2019790 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850287 M 10847 0 1 PRKCZ nsv6331669 1 2016124 2019790 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057191 M 19652 0 1 PRKCZ esv1002714 1 2017029 2017029 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3575233 M 3 1 0 PRKCZ HuRef nsv4768253 1 2017034 2017034 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16259835 M 25 1 0 PRKCZ nsv5613526 1 2017116 2017116 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062617,nssv17062616 M 35 2 0 PRKCZ HG00512,HG02011 nsv3322169 1 2017144 2017144 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491925 M 14 1 0 PRKCZ NA19240 nsv6054297 1 2017144 2017144 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518941 M 405 1 0 PRKCZ nsv3189074 1 2017148 2017203 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378804 M 9 0 0 PRKCZ NA19240 esv3665114 1 2017166 2017166 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487806 M 20 1 0 PRKCZ nsv3927014 1 2017166 2017166 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192914 M 1 1 0 PRKCZ HG002 nsv4444234 1 2017166 2017166 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759913 M 1 1 0 PRKCZ nsv2801519 1 2017167 2017167 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13696178 M 2 1 0 PRKCZ nsv3321552 1 2017167 2017167 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472583,nssv14477485,nssv14479025,nssv14481168,nssv14473973,nssv14492014,nssv14474467 M 14 7 0 PRKCZ CHM1,HG00514,HG02059,HG02818,HG04217,HX1,NA19240 nsv3534318 1 2017198 2017198 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374431,nssv14413474 M 9 2 0 PRKCZ HG00514,NA19240 nsv3321553 1 2017200 2017200 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478115,nssv14490107 M 14 2 0 PRKCZ HX1,NA19434 esv1162822 1 2017221 2017221 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3941411 M 2 1 0 PRKCZ HuRef esv3665179 1 2017229 2017229 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487865 M 20 1 0 PRKCZ nsv3217140 1 2018192 2058507 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14266403,nssv14266402,nssv14266401 M 9 3 0 PRKCZ HG00512,NA19239,NA19240 nsv3631 1 2022744 2056952 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7778 M 9 1 0 PRKCZ NA12156 nsv470681 1 2024064 2113565 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547651 M 443 0 1 PRKCZ HGDP00697 nsv3538789 1 2024470 2024470 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381789 M 9 1 0 PRKCZ NA19240 esv2668737 1 2024490 2027497 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6474764,essv6229381,essv6566834,essv5668953,essv6315088,essv6154406,essv5817670,essv5521064,essv6028858,essv6255118,essv5420709,essv5894647,essv5562511,essv6249120,essv5828436,essv5892031,essv5592270,essv5900192,essv6396289,essv6479850,essv6231552,essv5586775,essv5657047,essv5633795,essv5797826,essv5886970,essv6308201,essv5502714,essv5500049,essv6295269,essv6564858,essv6423410,essv6574210,essv6085392,essv6220938,essv5690079,essv5681468,essv5597900,essv6422341,essv5950655,essv5636927 M 1151 0 41 PRKCZ NA07051,NA07346,NA07347,NA11829,NA11831,NA11919,NA11992,NA11993,NA12004,NA12044,NA12717,NA12750,NA12751,NA12763,NA12892,NA18486,NA18504,NA18508,NA18516,NA18520,NA18522,NA18523,NA18853,NA18871,NA18953,NA18967,NA18972,NA18974,NA18976,NA18981,NA19107,NA19116,NA19138,NA19144,NA19152,NA19159,NA19172,NA19238,NA19239,NA19240,NA19676 esv27078 1 2024543 2027403 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16667 M 40 0 2 PRKCZ NA18508,NA19240 esv3585020 1 2024547 2027383 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841598,essv9841579,essv9841597,essv9841581,essv9841592,essv9841591,essv9841596,essv9841589,essv9841594,essv9841587,essv9841593,essv9841580,essv9841595,essv9841588,essv9841590,essv9841583,essv9841585,essv9841582,essv9841586,essv9841584 M 2504 0 20 PRKCZ HG02429,HG02479,HG02852,HG02854,HG02974,HG03112,HG03172,HG03267,HG03291,HG03342,HG03366,HG03370,HG03380,HG03517,NA18508,NA18923,NA19107,NA19239,NA19390,NA19676 nsv3174731 1 2024549 2024834 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14404879 M 9 0 0 PRKCZ NA19240 nsv5575236 1 2024554 2027383 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062626 M 35 0 1 PRKCZ NA19239 nsv5878464 1 2024554 2027383 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352360 M 914 0 1 PRKCZ nsv3199851 1 2024554 2027384 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14365777,nssv14365771,nssv14365776,nssv14365778,nssv14365772,nssv14365773,nssv14365774,nssv14365770,nssv14365775 M 9 0 9 PRKCZ HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4047726 1 2024555 2027384 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850296 M 10847 0 1 PRKCZ nsv5427551 1 2024555 2027384 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683877 M 3202 0 1 PRKCZ nsv3321557 1 2024556 2027385 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477041 M 14 0 1 PRKCZ NA19240 nsv5829178 1 2024583 2026888 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465779 M 914 0 0 PRKCZ nsv3172612 1 2024840 2027385 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14407085 M 9 0 0 PRKCZ NA19240 nsv5982440 1 2025827 2025878 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532970 M 405 0 1 PRKCZ nsv5431808 1 2025872 2055209 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900531 M 3202 1 0 PRKCZ nsv5982441 1 2027240 2027353 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524694 M 405 0 1 PRKCZ esv3585021 1 2028833 2052740 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841599 M 2504 0 1 PRKCZ HG00610 esv3585022 1 2028833 2052740 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841600 M 2504 1 0 PRKCZ HG03722 nsv5876777 1 2029018 2029082 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364189 M 914 0 1 PRKCZ nsv4317171 1 2035872 2036681 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789144 M 10847 0 0 PRKCZ nsv3533904 1 2036318 2036318 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413475 M 9 1 0 PRKCZ HG00514 dgv29n152 1 2036318 2058507 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3214582,nsv3210800 M 9 5 0 PRKCZ HG00512,HG00513,HG00514,HG00731,HG00733 nsv3182245 1 2036885 2039342 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14431429,nssv14431430 M 9 0 0 PRKCZ HG00514 esv4759 1 2037656 2038222 CNV loss Wang_et_al_2008 18987735 Sequencing essv27200 M 1 0 1 PRKCZ YH dgv1e194 1 2037749 2038273 CNV deletion Bentley_et_al_2008 18987734 Sequencing esv2345828,esv1927480 M 1 0 1 PRKCZ NA18507 nsv5982363 1 2037857 2038371 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17528761 M 405 1 0 PRKCZ dgv13n166 1 2037861 2038372 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4051868,nsv4043822 M 10847 2 0 PRKCZ nsv5578879 1 2037888 2037945 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062246 M 35 0 1 PRKCZ HG00731 nsv3322173 1 2037889 2037946 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490189,nssv14490354,nssv14479857,nssv14477219 M 14 0 4 PRKCZ HG00733,HG01352,HG02818,NA19240 nsv3173300 1 2037889 2037947 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14462848 M 9 0 0 PRKCZ HG00733 nsv6139059 1 2037893 2038182 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900532 M 3202 0 1 PRKCZ nsv1121435 1 2037898 2037992 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965435 M 2 0 1 PRKCZ KWS2 nsv6056584 1 2037903 2037903 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521787 M 405 1 0 PRKCZ dgv30n152 1 2037906 2038023 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3193954,nsv3192165 M 9 0 3 PRKCZ HG00731,HG00732,HG00733 nsv5982308 1 2037914 2037987 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528388 M 405 0 1 PRKCZ nsv5612913 1 2037927 2037927 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062247 M 35 1 0 PRKCZ HG03371 nsv1137181 1 2037950 2038113 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975873 M 2 0 1 PRKCZ KWS1 nsv2800982 1 2037967 2038024 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13706234 M 2 0 1 PRKCZ nsv3321748 1 2037967 2038024 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476800,nssv14483391,nssv14483468,nssv14484985 M 14 0 4 PRKCZ CHM1,CHM13,HG02059,HG02106 nsv1074479 1 2037978 2038037 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772448 M 1 0 1 PRKCZ KWP1 nsv3936943 1 2037984 2038158 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182390 M 1 0 1 PRKCZ HG002 esv3683431 1 2038015 2038249 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468165 M 20 0 1 PRKCZ nsv3322175 1 2038025 2038025 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474075,nssv14483203,nssv14476254,nssv14484372,nssv14482882,nssv14476569 M 14 6 0 PRKCZ HG00268,HG00514,HG02059,HG02106,HG04217,NA12878 nsv3322176 1 2038044 2038044 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491964 M 14 1 0 PRKCZ HG02059 nsv3171725 1 2038057 2038115 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381456 M 9 0 0 PRKCZ NA19240 nsv5622917 1 2038066 2038066 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062254,nssv17062255 M 35 2 0 PRKCZ HG00732,NA12878 nsv5575865 1 2038073 2038247 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062256 M 35 0 1 PRKCZ NA24385 nsv2800633 1 2038103 2038190 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13697790 M 2 0 1 PRKCZ nsv3322177 1 2038103 2038190 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481606,nssv14474589,nssv14491399,nssv14487547,nssv14482407,nssv14483414,nssv14472674 M 14 0 7 PRKCZ CHM1,CHM13,HG01352,HG02059,HG02106,HX1,NA19434 nsv3064060 1 2038120 2038120 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14036080 M 2 1 0 PRKCZ NA12878 nsv3321563 1 2038132 2038132 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485142,nssv14478919 M 14 2 0 PRKCZ HG00268,HG04217 nsv3533497 1 2038134 2038134 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389142 M 9 1 0 PRKCZ NA19240 dgv31n152 1 2038146 2038310 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3197273,nsv3201173 M 9 0 3 PRKCZ HG00731,HG00732,HG00733 nsv3322019 1 2038183 2038183 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490993,nssv14472106 M 14 2 0 PRKCZ HG00268,HG02059 nsv5608414 1 2038189 2038189 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062257 M 35 1 0 PRKCZ HG00731 nsv6057407 1 2038192 2038192 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528611 M 405 1 0 PRKCZ nsv3322178 1 2038197 2038197 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482472,nssv14473585,nssv14481764,nssv14476879 M 14 4 0 PRKCZ HG00268,HG02059,HG02106,NA19240 nsv3533910 1 2038198 2038198 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391231 M 9 1 0 PRKCZ NA19240 nsv1140401 1 2038208 2038267 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979107 M 2 1 0 PRKCZ KWS2 nsv5873884 1 2038209 2038309 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361837 M 914 0 1 PRKCZ nsv1122280 1 2038235 2038294 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969733 M 2 0 1 PRKCZ KWS2 nsv5624323 1 2038310 2038310 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062258 M 35 1 0 PRKCZ NA19650 nsv160060 1 2038311 2038311 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178638 M 24 PRKCZ nsv4046880 1 2039196 2043616 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850302 M 10847 0 1 PRKCZ nsv5876824 1 2039503 2039585 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358772 M 914 0 1 PRKCZ nsv4044420 1 2039506 2039586 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850310 M 10847 0 1 PRKCZ nsv4037705 1 2040126 2055059 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962661 M 10847 1 0 PRKCZ nsv460616 1 2040936 2089526 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537157 M 1557 0 1 PRKCZ NINDS_69 nsv545045 1 2040936 2089526 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172578 M 17421 0 1 PRKCZ NINDS_69 esv2196740 1 2041419 2041771 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4845456 M 1 0 1 PRKCZ NA18507 nsv5580748 1 2041460 2041554 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062267 M 35 0 1 PRKCZ HG00731 nsv3950289 1 2041460 2041555 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182407 M 1 0 1 PRKCZ HG002 nsv4448714 1 2041460 2041555 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15761675 M 1 0 1 PRKCZ dgv32n152 1 2041460 2041556 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3180389,nsv3178973 M 9 0 0 PRKCZ HG00514,HG00733,NA19240 nsv2800635 1 2041461 2041555 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13702552 M 2 0 1 PRKCZ nsv3322022 1 2041461 2041555 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485837,nssv14490787,nssv14486987,nssv14473741,nssv14478856,nssv14474888,nssv14476484,nssv14473543,nssv14479524,nssv14482926,nssv14489988,nssv14486077,nssv14487061,nssv14476441 M 14 0 14 PRKCZ CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv6051390 1 2041462 2041462 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524998 M 405 1 0 PRKCZ nsv5982450 1 2041508 2041602 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527122 M 405 0 1 PRKCZ nsv4739352 1 2041509 2041604 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16275717 M 25 0 1 PRKCZ nsv1121436 1 2041553 2041657 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965436 M 2 0 1 PRKCZ KWS2 nsv6058558 1 2041554 2041554 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532629 M 405 1 0 PRKCZ nsv6332232 1 2046380 2054942 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057427 M 19652 0 1 PRKCZ nsv3534036 1 2049048 2049048 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440837 M 9 1 0 PRKCZ HG00733 nsv3217178 1 2049048 2058146 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260221 M 9 1 0 PRKCZ HG00514 nsv834557 1 2049070 2242543 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444739,nssv1445295,nssv1444295,nssv1444851,nssv1444962,nssv1444406,nssv1444517,nssv1445073,nssv1444628,nssv1444184,nssv1445184 M 95 0 11 C1orf86,PRKCZ,SKI nsv4041017 1 2049446 2050247 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850319 M 10847 0 1 PRKCZ esv2492368 1 2052521 2053012 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5343806 M 1 1 0 PRKCZ NA18507 esv3388837 1 2052692 2055890 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692102 M 185 1 0 PRKCZ NA19239 dgv33n152 1 2052705 2057478 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3179659,nsv3172321 M 9 0 0 PRKCZ HG00733,NA19240 nsv5982314 1 2052889 2055824 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17532441 M 405 1 0 PRKCZ nsv5881613 1 2052929 2053267 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355924 M 914 0 1 PRKCZ nsv5868286 1 2052929 2053459 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354475 M 914 0 1 PRKCZ nsv4733401 1 2052931 2053210 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16262538 M 25 0 1 PRKCZ nsv5871440 1 2052935 2054458 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351899 M 914 0 1 PRKCZ nsv2801525 1 2052942 2053106 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13700229 M 2 0 1 PRKCZ nsv3321569 1 2052942 2053106 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472820,nssv14490576 M 14 0 2 PRKCZ CHM1,CHM13 nsv5581754 1 2052945 2053106 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062297 M 35 0 1 PRKCZ NA24385 nsv5884886 1 2052945 2053106 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358882 M 914 0 1 PRKCZ dgv10n209 1 2052945 2055519 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5876004,nsv5868441,nsv5873085,nsv5873323,nsv5880302 M 914 0 5 PRKCZ nsv5982452 1 2052950 2053063 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532290 M 405 0 1 PRKCZ nsv4518087 1 2052952 2053078 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850335 M 10847 0 1 PRKCZ nsv5956893 1 2052958 2052958 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351162 M 914 1 0 PRKCZ esv26913 1 2052961 2055975 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv15600,esv18512 M 40 7 20 PRKCZ NA06985,NA07037,NA07045,NA11931,NA12004,NA12006,NA12287,NA12489,NA12828,NA12878,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv821592 1 2052961 2056045 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420402 M 1 0 1 PRKCZ NA10851 nsv5536830 1 2052966 2052966 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900535 M 3202 1 0 PRKCZ nsv6138112 1 2053008 2055680 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900536 M 3202 0 1 PRKCZ nsv5880896 1 2053052 2055805 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357381 M 914 0 1 PRKCZ nsv3321756 1 2053058 2053201 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476130 M 14 0 1 PRKCZ HG02059 nsv5428261 1 2053086 2053539 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900539 M 3202 1 0 PRKCZ nsv5614615 1 2053098 2053098 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062298 M 35 1 0 PRKCZ NA19983 nsv5982543 1 2053102 2053259 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529060 M 405 0 1 PRKCZ nsv6053647 1 2053116 2053116 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525822 M 405 1 0 PRKCZ nsv3322032 1 2053117 2053117 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480787,nssv14474947,nssv14474557 M 14 3 0 PRKCZ HG01352,HG02818,NA19240 nsv6041194 1 2053119 2053119 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525906 M 405 1 0 PRKCZ nsv5576752 1 2053137 2053186 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062301 M 35 0 1 PRKCZ HG00731 nsv5566246 1 2053137 2053396 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062300 M 35 0 1 PRKCZ HG00731 nsv5604756 1 2053147 2053147 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062302 M 35 1 0 PRKCZ HG00514 nsv6138461 1 2053170 2053265 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900540 M 3202 1 0 PRKCZ nsv951470 1 2053201 2056200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997226 M 1 0 1 PRKCZ BILGI_BIOE dgv44n54 1 2053205 2055373 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545052,nsv545049,nsv545056,nsv545046 M 17421 0 22 PRKCZ dgv45n54 1 2053205 2055638 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545050,nsv545051,nsv545054,nsv545048,nsv545047,nsv545058 M 17421 18 0 PRKCZ nsv2801275 1 2053207 2053207 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13709787 M 2 1 0 PRKCZ nsv3321757 1 2053207 2053207 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486154,nssv14476335,nssv14476418,nssv14479751 M 14 4 0 PRKCZ CHM1,CHM13,HG01352,HX1 nsv2801276 1 2053269 2053269 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693200 M 2 1 0 PRKCZ nsv2801526 1 2053273 2053273 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687734 M 2 1 0 PRKCZ nsv5611696 1 2053303 2053303 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062305 M 35 1 0 PRKCZ HG00731 nsv3321760 1 2053309 2053309 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486181,nssv14491554,nssv14489187,nssv14473615,nssv14487031 M 14 5 0 PRKCZ HG01352,HG02106,HG02818,NA19240,NA19434 nsv3322034 1 2053309 2053427 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477014 M 14 0 1 PRKCZ HG02059 nsv5611707 1 2053325 2053325 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062307 M 35 1 0 PRKCZ HG03065 dgv11n209 1 2053342 2055812 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5878290,nsv5875734,nsv5877099,nsv5871274 M 914 0 4 PRKCZ nsv5614582 1 2053352 2053352 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062308 M 35 1 0 PRKCZ HG03486 nsv6138312 1 2053356 2054376 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900558 M 3202 0 1 PRKCZ esv2505453 1 2053384 2056112 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5233482 M 1 0 1 PRKCZ NA18507 nsv2800640 1 2053408 2053408 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685122 M 2 1 0 PRKCZ nsv3321762 1 2053408 2053408 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481010,nssv14484049,nssv14487314 M 14 3 0 PRKCZ CHM1,HG01352,HG02106 nsv5567498 1 2053424 2054351 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062309 M 35 0 1 PRKCZ HG00513 nsv5571597 1 2053450 2055542 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062310 M 35 0 1 PRKCZ HG03009 nsv3322035 1 2053494 2053494 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474294 M 14 1 0 PRKCZ HG00514 nsv3322187 1 2053514 2053923 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491249,nssv14482521 M 14 0 2 PRKCZ HG01352,HG02818 esv4841 1 2053516 2055933 CNV loss Wang_et_al_2008 18987735 Sequencing essv27282 M 1 0 1 PRKCZ YH nsv3322188 1 2053527 2053527 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480528 M 14 1 0 PRKCZ HG01352 nsv3321570 1 2053533 2053533 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481602,nssv14483807 M 14 2 0 PRKCZ HG02106,NA19434 nsv6047960 1 2053537 2053537 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529158 M 405 1 0 PRKCZ nsv5619716 1 2053544 2053544 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062311 M 35 1 0 PRKCZ HG01505 dgv14n166 1 2053546 2054461 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4051778,nsv4045587 M 10847 2 0 PRKCZ nsv3950817 1 2053547 2053547 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192987 M 1 1 0 PRKCZ HG002 nsv3322189 1 2053564 2053564 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479211,nssv14473516,nssv14477248 M 14 3 0 PRKCZ HG00514,HX1,NA19434 nsv5576343 1 2053572 2053627 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062312 M 35 0 1 PRKCZ NA19239 nsv5982317 1 2053572 2053688 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533406 M 405 0 1 PRKCZ nsv6053081 1 2053580 2053580 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524780 M 405 1 0 PRKCZ nsv5570142 1 2053580 2053919 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062313 M 35 0 1 PRKCZ NA24385 dgv46n54 1 2053581 2055501 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545053,nsv545057,nsv545060 M 17421 32 16 PRKCZ nsv5611752 1 2053598 2053598 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062314 M 35 1 0 PRKCZ NA19238 nsv1074070 1 2053599 2055600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772721 M 1 0 1 PRKCZ KWP1 nsv1130941 1 2053600 2055600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967638 M 2 0 1 PRKCZ KWS2 nsv5605529 1 2053607 2053607 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062315 M 35 1 0 PRKCZ HG03065 esv1008133 1 2053623 2055810 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586410 M 3 1 0 PRKCZ HuRef nsv4039666 1 2053687 2053804 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850345 M 10847 0 1 PRKCZ nsv5982453 1 2053740 2053803 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523758 M 405 0 1 PRKCZ nsv545055 1 2053757 2055250 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708673 M 17421 1 0 PRKCZ nsv5605911 1 2053810 2053810 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062316 M 35 1 0 PRKCZ HG02587 nsv2801277 1 2053859 2053920 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13688915 M 2 0 1 PRKCZ nsv3321763 1 2053859 2053920 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481728 M 14 0 1 PRKCZ CHM13 nsv5608582 1 2053869 2053869 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062317 M 35 1 0 PRKCZ HG00731 nsv5615394 1 2053894 2053894 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062318 M 35 1 0 PRKCZ HG02587 nsv5608700 1 2053917 2053917 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062319 M 35 1 0 PRKCZ NA20509 nsv3322036 1 2053920 2053920 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477793,nssv14481957,nssv14487872 M 14 3 0 PRKCZ HG00268,HG00514,HG02106 nsv4516971 1 2053920 2054634 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961321 M 10847 1 0 PRKCZ nsv3322190 1 2053958 2053958 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481309 M 14 1 0 PRKCZ HG00268 nsv3321571 1 2053987 2053987 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487113 M 14 1 0 PRKCZ HG02106 nsv5620722 1 2054007 2054007 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063152 M 35 1 0 PRKCZ NA19239 nsv3322191 1 2054008 2054008 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486258 M 14 1 0 PRKCZ HG00268 nsv5579761 1 2054010 2054297 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063153 M 35 0 1 PRKCZ HG03732 nsv6044757 1 2054019 2054019 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536820 M 405 1 0 PRKCZ nsv6050041 1 2054051 2054051 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518942 M 405 1 0 PRKCZ nsv5982369 1 2054068 2054224 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530001 M 405 0 1 PRKCZ nsv3322192 1 2054075 2054303 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484207,nssv14476375,nssv14487713,nssv14484880,nssv14478405,nssv14490531 M 14 0 6 PRKCZ HG00514,HG00733,HG01352,HG02059,HG02818,HX1 nsv5576096 1 2054076 2054213 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063154 M 35 0 1 PRKCZ NA19239 dgv47n54 1 2054080 2055501 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545059,nsv545061 M 17421 0 7 PRKCZ nsv6051669 1 2054084 2054084 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534747 M 405 1 0 PRKCZ nsv3321764 1 2054084 2054140 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482232,nssv14490760 M 14 0 2 PRKCZ HG02106,NA19434 nsv3322037 1 2054183 2054296 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491700,nssv14485040 M 14 0 2 PRKCZ HX1,NA19434 nsv4517122 1 2054186 2055078 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961329 M 10847 1 0 PRKCZ nsv3322193 1 2054199 2054199 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484131 M 14 1 0 PRKCZ HG00268 nsv4746294 1 2054207 2055548 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285206 M 25 0 1 PRKCZ nsv5609570 1 2054220 2054220 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063155 M 35 1 0 PRKCZ HG00732 nsv3321572 1 2054235 2054288 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489408 M 14 0 1 PRKCZ HG02106 nsv3322194 1 2054266 2054266 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481700 M 14 1 0 PRKCZ HG00268 nsv2800641 1 2054283 2054283 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686324 M 2 1 0 PRKCZ nsv3321573 1 2054283 2054283 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14483833 M 14 1 0 PRKCZ CHM1 nsv4048071 1 2054315 2054577 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961338 M 10847 1 0 PRKCZ nsv5982544 1 2054324 2054441 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517866 M 405 0 1 PRKCZ nsv2801278 1 2054338 2054338 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684222 M 2 1 0 PRKCZ nsv3322038 1 2054338 2054338 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472885,nssv14483117,nssv14475021 M 14 3 0 PRKCZ CHM1,HG00268,NA19434 nsv3322039 1 2054341 2054582 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473295 M 14 0 1 PRKCZ HG01352 nsv5610590 1 2054351 2054351 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063156 M 35 1 0 PRKCZ HG00171 nsv3322195 1 2054371 2054371 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489867 M 14 1 0 PRKCZ HG00268 nsv3321765 1 2054373 2054438 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476155 M 14 0 1 PRKCZ HG02818 nsv5982372 1 2054421 2054486 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521616 M 405 0 1 PRKCZ nsv5624434 1 2054425 2054425 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063158 M 35 1 0 PRKCZ HG00731 nsv5565052 1 2054430 2054491 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063159 M 35 0 1 PRKCZ HG03486 nsv5623703 1 2054445 2054445 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063160 M 35 1 0 PRKCZ NA19983 nsv3321766 1 2054470 2054470 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475651 M 14 1 0 PRKCZ HG02106 nsv3321767 1 2054521 2054574 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476798 M 14 0 1 PRKCZ HG02818 nsv3322040 1 2054524 2054524 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491646 M 14 1 0 PRKCZ NA19434 nsv3322196 1 2054540 2054540 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486248,nssv14485972 M 14 2 0 PRKCZ HG00268,HG00733 esv1138741 1 2054545 2054653 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3618162 M 2 0 1 PRKCZ HuRef nsv6048491 1 2054546 2054546 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528196 M 405 1 0 PRKCZ nsv5574780 1 2054555 2054694 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063161 M 35 0 1 PRKCZ HG01596 nsv5982318 1 2054569 2054622 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524912 M 405 0 1 PRKCZ nsv5430457 1 2054569 2055363 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683880 M 3202 0 1 PRKCZ nsv5874712 1 2054569 2055855 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362805 M 914 0 1 PRKCZ nsv3321768 1 2054575 2054647 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489162 M 14 0 1 PRKCZ HG02106 nsv2801279 1 2054597 2054597 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677752 M 2 1 0 PRKCZ nsv3322041 1 2054597 2054597 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485431,nssv14480201,nssv14486372,nssv14474173 M 14 4 0 PRKCZ CHM13,HG00268,HG00733,HX1 nsv3321769 1 2054633 2054713 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486188 M 14 0 1 PRKCZ HG02818 nsv5624026 1 2054652 2054652 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063162 M 35 1 0 PRKCZ NA12878 nsv5569876 1 2054653 2055542 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063163 M 35 0 1 PRKCZ HG03371 nsv5580438 1 2054654 2054967 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063164 M 35 0 1 PRKCZ HG00513 nsv3321575 1 2054671 2054671 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489612,nssv14479179,nssv14485066,nssv14489958,nssv14482136 M 14 5 0 PRKCZ HG00268,HG00514,HG00733,HG02106,HX1 nsv545062 1 2054715 2077872 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708737 M 17421 0 1 PRKCZ nsv6041270 1 2054727 2054727 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524882 M 405 1 0 PRKCZ nsv3321770 1 2054748 2054748 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473171 M 14 1 0 PRKCZ HX1 nsv5982319 1 2054791 2055647 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521683 M 405 0 1 PRKCZ nsv2800985 1 2054798 2054798 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685527 M 2 1 0 PRKCZ nsv3321576 1 2054798 2054798 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487673 M 14 1 0 PRKCZ CHM13 nsv5620051 1 2054803 2054803 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063166 M 35 1 0 PRKCZ HG03065 nsv4042065 1 2054812 2055304 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961357 M 10847 1 0 PRKCZ nsv3322197 1 2054847 2055590 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480940,nssv14490570,nssv14476119,nssv14488695,nssv14483597 M 14 0 5 PRKCZ HG00268,HG01352,HG02059,HG02818,NA19434 nsv2800986 1 2054848 2055027 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13678403 M 2 0 1 PRKCZ nsv3322042 1 2054848 2055027 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472771,nssv14484752,nssv14472765,nssv14474125,nssv14482568,nssv14488984 M 14 0 6 PRKCZ CHM1,HG02059,HG02818,HX1,NA19240,NA19434 nsv5580023 1 2054850 2054994 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063167 M 35 0 1 PRKCZ HG02818 nsv5982374 1 2054857 2054953 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534557 M 405 0 1 PRKCZ nsv3321771 1 2054888 2054888 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489656 M 14 1 0 PRKCZ HG00268 nsv5606171 1 2054909 2054909 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063168 M 35 1 0 PRKCZ HG00513 nsv5613795 1 2054926 2054926 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063169 M 35 1 0 PRKCZ HG03065 nsv3935213 1 2055045 2055045 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193009 M 1 1 0 PRKCZ HG002 nsv6056097 1 2055074 2055074 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525470 M 405 1 0 PRKCZ nsv5619910 1 2055099 2055099 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063170 M 35 1 0 PRKCZ HG00731 nsv6049643 1 2055141 2055141 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521413 M 405 1 0 PRKCZ nsv3322198 1 2055150 2055150 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489793 M 14 1 0 PRKCZ HG00268 nsv3321772 1 2055159 2055242 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490353 M 14 0 1 PRKCZ HX1 nsv5622877 1 2055168 2055168 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063171 M 35 1 0 PRKCZ HG00512 nsv3321577 1 2055190 2055400 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478895 M 14 0 1 PRKCZ HG02106 nsv5982770 1 2055215 2055631 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528827 M 405 0 1 PRKCZ nsv5609379 1 2055236 2055236 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063172 M 35 1 0 PRKCZ HG00512 nsv3937200 1 2055238 2055238 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193042 M 1 1 0 PRKCZ HG002 nsv5583771 1 2055276 2055557 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063173 M 35 0 1 PRKCZ HG03125 nsv5573244 1 2055279 2055329 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063174 M 35 0 1 PRKCZ HG03125 nsv2800643 1 2055298 2055369 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13687211 M 2 0 1 PRKCZ nsv3322199 1 2055298 2055369 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480237 M 14 0 1 PRKCZ CHM1 nsv5982455 1 2055311 2055369 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525683 M 405 0 1 PRKCZ nsv2801280 1 2055342 2055662 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13678242 M 2 0 1 PRKCZ nsv3321578 1 2055342 2055662 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481412,nssv14487838,nssv14491183,nssv14479484,nssv14480157,nssv14474372 M 14 0 6 PRKCZ CHM13,HG00268,HG01352,HG02059,HG02818,NA19434 nsv5605593 1 2055343 2055343 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063175 M 35 1 0 PRKCZ HG03065 nsv3321773 1 2055364 2055364 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479856 M 14 1 0 PRKCZ HG00733 nsv5982771 1 2055417 2055835 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521398 M 405 0 1 PRKCZ nsv2800644 1 2055433 2055558 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13677550 M 2 0 1 PRKCZ nsv3322200 1 2055433 2055558 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481274,nssv14486410 M 14 0 2 PRKCZ CHM1,HG00514 nsv3322201 1 2055467 2055467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489218,nssv14491739 M 14 2 0 PRKCZ HG00268,HX1 nsv5982320 1 2055476 2055554 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533864 M 405 0 1 PRKCZ nsv5982375 1 2055481 2055662 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524380 M 405 0 1 PRKCZ nsv5617556 1 2055484 2055484 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063176 M 35 1 0 PRKCZ HG00731 nsv3322202 1 2055508 2055508 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478294 M 14 1 0 PRKCZ HG02106 nsv5615709 1 2055540 2055540 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063177 M 35 1 0 PRKCZ HG01596 nsv5618458 1 2055558 2055558 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063178 M 35 1 0 PRKCZ HG00732 nsv5614559 1 2055612 2055612 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063179 M 35 1 0 PRKCZ HG00512 nsv3321579 1 2055632 2055632 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14474248 M 14 1 0 PRKCZ HG00733 nsv3322203 1 2055646 2055646 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477215,nssv14476213 M 14 2 0 PRKCZ HG00268,HX1 nsv6051816 1 2055662 2055662 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529193 M 405 1 0 PRKCZ nsv3322204 1 2055682 2055682 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479314,nssv14488419,nssv14476742,nssv14475911,nssv14485788 M 14 5 0 PRKCZ HG00514,HG02059,HG02106,HX1,NA19240 nsv2801527 1 2055685 2055828 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13684408 M 2 0 1 PRKCZ nsv3321774 1 2055685 2055828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487342,nssv14483109,nssv14490988,nssv14484345,nssv14475935 M 14 0 5 PRKCZ CHM13,HG00268,HG01352,HG02818,NA19434 nsv3321580 1 2055688 2055688 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472384,nssv14483804 M 14 2 0 PRKCZ HG00733,HG02106 nsv3321581 1 2055775 2055828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490127 M 14 0 1 PRKCZ HG00268 nsv5982376 1 2055783 2055837 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520949 M 405 0 1 PRKCZ nsv5884942 1 2055784 2055837 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351782 M 914 0 1 PRKCZ nsv5617787 1 2055792 2055792 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063180 M 35 1 0 PRKCZ HG00731 nsv3321775 1 2055807 2055807 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481050 M 14 1 0 PRKCZ HG02106 nsv5549120 1 2055809 2055809 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900588 M 3202 1 0 PRKCZ nsv5605441 1 2055810 2055810 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063181 M 35 1 0 PRKCZ HG00731 nsv6044842 1 2055822 2055822 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532851 M 405 1 0 PRKCZ nsv951471 1 2065601 2070700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997237 M 1 0 1 PRKCZ BILGI_BIOE nsv4049870 1 2068993 2069150 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850353 M 10847 0 1 PRKCZ nsv5611697 1 2073311 2073311 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062500 M 35 1 0 PRKCZ HG00513 nsv5982555 1 2073400 2073930 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17524355 M 405 1 0 PRKCZ esv3683465 1 2073425 2073847 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468196 M 20 0 1 PRKCZ nsv5982393 1 2073466 2073628 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526393 M 405 0 1 PRKCZ nsv6050809 1 2073476 2073476 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530149 M 405 1 0 PRKCZ nsv5568492 1 2073491 2073574 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062501 M 35 0 1 PRKCZ HG02011 nsv3949323 1 2073491 2073575 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182447 M 1 0 1 PRKCZ HG002 nsv5982780 1 2073693 2073779 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531554 M 405 0 1 PRKCZ esv2313378 1 2073716 2074039 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4884634 M 1 0 1 PRKCZ NA18507 nsv6057873 1 2073721 2073721 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529774 M 405 1 0 PRKCZ esv4294 1 2073731 2073962 CNV loss Wang_et_al_2008 18987735 Sequencing essv26735 M 1 0 1 PRKCZ YH nsv3321591 1 2073747 2073831 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474318,nssv14487480,nssv14488730,nssv14489243,nssv14489933,nssv14477907,nssv14488219 M 14 0 7 PRKCZ HG00268,HG00514,HG00733,HG01352,HG02106,NA12878,NA19434 nsv3281511 1 2073747 2073832 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14432372,nssv14458545 M 9 0 2 PRKCZ HG00514,HG00733 nsv5570032 1 2073761 2073845 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062502 M 35 0 1 PRKCZ HG00731 nsv3929580 1 2073761 2073846 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182448 M 1 0 1 PRKCZ HG002 nsv4448715 1 2073761 2073846 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15758475 M 1 0 1 PRKCZ nsv4747443 1 2073768 2073855 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16275912 M 25 0 1 PRKCZ nsv5982556 1 2073778 2073862 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529863 M 405 0 1 PRKCZ nsv1153893 1 2073814 2073931 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003168 M 1 0 1 PRKCZ KWB1 nsv1075767 1 2077599 2080000 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3767387 M 1 1 0 PRKCZ KWP1 nsv4443982 1 2078502 2078502 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759934 M 1 1 0 PRKCZ nsv5873696 1 2079059 2079322 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368139 M 914 0 1 PRKCZ nsv4750305 1 2079158 2079158 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16262275 M 25 1 0 PRKCZ nsv5604818 1 2079158 2079158 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062521 M 35 1 0 PRKCZ HG00513 nsv6040714 1 2079158 2079158 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523306 M 405 1 0 PRKCZ nsv3542091 1 2079159 2079159 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379144 M 9 1 0 PRKCZ NA19240 nsv3954656 1 2079159 2079159 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193067 M 1 1 0 PRKCZ HG002 nsv5433056 1 2079159 2079478 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900589 M 3202 1 0 PRKCZ nsv5871165 1 2079159 2079484 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17360163 M 914 1 0 PRKCZ nsv2801534 1 2079160 2079160 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13710851 M 2 1 0 PRKCZ nsv3321790 1 2079160 2079160 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483545,nssv14472953,nssv14478365,nssv14491042,nssv14479975,nssv14491866,nssv14475307 M 14 7 0 PRKCZ CHM1,CHM13,HG01352,HG02059,HG02818,HX1,NA19240 nsv3056780 1 2079181 2079181 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029185 M 2 1 0 PRKCZ CHM1 nsv6138926 1 2079347 2079615 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900590 M 3202 0 1 PRKCZ nsv4046366 1 2080985 2081229 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850370 M 10847 0 1 PRKCZ dgv48n54 1 2082489 2182470 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545063,nsv545065 M 17421 0 2 C1orf86,PRKCZ,SKI 1780862101_A nsv461727 1 2082489 2182470 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538084 M 1557 0 1 C1orf86,PRKCZ,SKI 1780862101_A dgv49n54 1 2082489 2221222 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545064,nsv545066 M 17421 0 2 C1orf86,PRKCZ,SKI nsv951530 1 2085101 2161400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997248 M 1 0 1 C1orf86,PRKCZ,SKI BILGI_BIOE dgv18e59 1 2085992 2087390 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3377460,esv3434245 M 185 2 0 PRKCZ NA19239,NA19240 nsv5982563 1 2086558 2086660 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519931 M 405 0 1 PRKCZ nsv4047762 1 2086560 2086639 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849491 M 10847 0 1 PRKCZ nsv1113061 1 2087041 2087094 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967954 M 2 0 1 PRKCZ KWS2 nsv4460224 1 2093036 2093037 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029211 M 10847 1 0 PRKCZ esv3665388 1 2098115 2098115 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16488053 M 20 1 0 PRKCZ nsv6325995 1 2113218 2118265 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200592 M 19652 1 0 C1orf86,PRKCZ nsv6331752 1 2116898 2122266 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057485 M 19652 0 1 C1orf86 nsv470682 1 2119833 2310193 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547655,nssv547652,nssv547654,nssv547653,nssv547657 M 443 0 5 C1orf86,LOC100129534,MORN1,SKI HGDP00288,HGDP00313,HGDP00546,HGDP00657,HGDP00978 nsv5624038 1 2121037 2121037 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062714 M 35 1 0 C1orf86 HG00171 nsv4041701 1 2121037 2121102 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961366 M 10847 1 0 C1orf86 nsv5431508 1 2122939 2123050 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900592 M 3202 0 1 C1orf86 nsv6333346 1 2123497 2123833 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058123 M 19652 0 1 C1orf86 nsv1074484 1 2125599 2126400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763563 M 1 0 1 C1orf86 KWP1 nsv1112517 1 2125600 2126400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967639,nssv3984397 M 2 0 2 C1orf86 KWS1,KWS2 nsv5876916 1 2126248 2126491 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363678 M 914 0 1 C1orf86 nsv1075013 1 2136199 2136800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768197 M 1 0 1 C1orf86 KWP1 nsv5982583 1 2136546 2136721 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530155 M 405 0 1 C1orf86 nsv6318389 1 2138140 2153939 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058472 M 19652 0 1 C1orf86 nsv5419500 1 2138713 2138770 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900593 M 3202 0 1 C1orf86 nsv818111 1 2140261 2156362 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417805 M 112 0 1 C1orf86 NA18853 nsv463949 1 2140261 2195117 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv539962 M 1557 0 1 C1orf86,SKI 1780862414_A nsv545067 1 2140261 2195117 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172580 M 17421 0 1 C1orf86,SKI 1780862414_A nsv6138448 1 2142364 2143340 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900594 M 3202 0 1 C1orf86 nsv5557352 1 2142668 2143227 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900595 M 3202 0 0 C1orf86 nsv6138936 1 2142745 2142906 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900597 M 3202 0 1 C1orf86 nsv6138709 1 2142972 2143428 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900613 M 3202 0 1 C1orf86 nsv6138143 1 2143085 2143634 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900614 M 3202 1 0 C1orf86 nsv5619665 1 2143168 2143168 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063400 M 35 1 0 C1orf86 HG00171 nsv5873035 1 2143168 2143625 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17361064 M 914 1 0 C1orf86 nsv5870970 1 2143276 2143597 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352145 M 914 0 1 C1orf86 nsv5982585 1 2143276 2143598 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536961 M 405 0 1 C1orf86 nsv6327776 1 2143276 2143598 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202058 M 19652 1 0 C1orf86 nsv2801549 1 2143290 2143290 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677990 M 2 1 0 C1orf86 nsv3322087 1 2143290 2143290 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14479246,nssv14479649,nssv14477388 M 14 3 0 C1orf86 CHM1,HG02059,HX1 nsv4517239 1 2143311 2143572 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849509 M 10847 0 1 C1orf86 nsv5577007 1 2143313 2143634 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063402 M 35 0 1 C1orf86 NA19983 nsv6059530 1 2143339 2143339 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523704 M 405 1 0 C1orf86 nsv3952009 1 2143340 2143340 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193085 M 1 1 0 C1orf86 HG002 nsv5622885 1 2143503 2143503 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063403 M 35 1 0 C1orf86 NA24385 nsv2801298 1 2143606 2143606 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689470 M 2 1 0 C1orf86 nsv3322088 1 2143606 2143606 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14485148,nssv14474121,nssv14486159 M 14 3 0 C1orf86 CHM13,HG02059,HX1 nsv4443983 1 2143633 2143633 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766703 M 1 1 0 C1orf86 nsv6253921 1 2145189 2145189 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853354 M 1021 1 0 "" nsv5871240 1 2145199 2145264 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354447 M 914 0 1 "" nsv6542584 1 2149085 2149860 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249290 M 19652 0 0 "" nsv4047574 1 2151372 2154713 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850073 M 10847 0 1 "" nsv4460617 1 2152211 2152212 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027438 M 10847 1 0 "" nsv5542655 1 2152219 2152258 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900616 M 3202 1 0 "" esv3577698 1 2153436 2154569 CNV loss Uddin_et_al_2014 25503493 SNP array essv9782866,essv9782755,essv9782422,essv9782644,essv9782311,essv9783088,essv9782977,essv9782200,essv9782533,essv9783199 M 873 0 10 "" 400002HK,400030WD,400168HC,400686BM,400793BR,401084BD,401414CR,401603HH,401728WK,401806DL nsv6334091 1 2153746 2157041 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058652 M 19652 0 1 "" nsv834668 1 2155766 2324377 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1447628,nssv1448295,nssv1448628,nssv1450294,nssv1448850,nssv1449850,nssv1449406,nssv1445406,nssv1450406,nssv1445739,nssv1447850,nssv1449961,nssv1446628,nssv1446295,nssv1447295,nssv1448406,nssv1450517,nssv1448961,nssv1449517,nssv1445850,nssv1450628,nssv1450072,nssv1448517,nssv1446406,nssv1449072,nssv1447961,nssv1446961,nssv1447739,nssv1449628,nssv1449183,nssv1445517,nssv1445962,nssv1447406,nssv1448072,nssv1446517,nssv1446739,nssv1447073,nssv1446184,nssv1447517,nssv1449739,nssv1449295,nssv1445628,nssv1448739,nssv1446073,nssv1446850,nssv1448184,nssv1450183,nssv1447184 M 95 0 48 LOC100129534,MORN1,RER1,SKI nsv4040106 1 2157000 2162000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961933 M 10847 1 0 SKI nsv5424716 1 2158111 2158673 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900618 M 3202 0 1 "" esv2648351 1 2158465 2160492 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5208944 M 1 0 1 SKI NA18507 dgv13n106 1 2159000 2160100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1121742,nsv1143430 M 2 0 2 "" KWS1,KWS2 nsv1074077 1 2159199 2160100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769049 M 1 0 1 "" KWP1 esv3585023 1 2162106 2163200 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841601 M 2504 0 1 SKI NA18910 esv2673961 1 2162118 2163146 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6191476 M 1151 0 1 SKI NA18910 nsv5427164 1 2162212 2163189 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900619 M 3202 0 1 SKI nsv6254838 1 2162495 2162495 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17855006 M 1021 1 0 SKI nsv4564154 1 2166284 2166285 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029302 M 10847 1 0 SKI nsv4041274 1 2166769 2190885 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850087 M 10847 0 1 SKI esv3669715 1 2177253 2177310 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16491948 M 20 0 0 SKI nsv951531 1 2178801 2186700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997259 M 1 0 1 SKI BILGI_BIOE nsv4044220 1 2178808 2178903 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850105 M 10847 0 1 SKI nsv6320725 1 2179775 2182115 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058294 M 19652 0 1 SKI nsv4051918 1 2179777 2182115 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850116 M 10847 0 1 SKI nsv465060 1 2180524 2220649 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv540916 M 1557 0 1 SKI HGDP01351 nsv545068 1 2180524 2220649 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172581 M 17421 0 1 SKI HGDP01351 nsv4536577 1 2180975 2180976 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027509 M 10847 1 0 SKI nsv545069 1 2182470 2222583 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708741 M 17421 1 0 SKI nsv4046751 1 2184810 2189500 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850124 M 10847 0 1 SKI nsv5418402 1 2186922 2187326 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900620 M 3202 0 1 SKI nsv4433037 1 2187001 2188000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15748040 M 15 1 0 SKI NB07 nsv5575956 1 2187388 2187523 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063024 M 35 0 1 SKI HG03732 nsv5879261 1 2187388 2187523 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357309 M 914 0 1 SKI nsv5418522 1 2187436 2187524 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900621 M 3202 0 1 SKI nsv4448716 1 2193469 2193539 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15762904 M 1 0 1 SKI nsv5566045 1 2193484 2193553 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063202 M 35 0 1 SKI HG00732 nsv3205042 1 2193484 2193554 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14367528,nssv14367527,nssv14367529 M 9 0 3 SKI HG00731,HG00732,HG00733 nsv3937180 1 2193484 2193554 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15183302 M 1 0 1 SKI HG002 nsv3321659 1 2193488 2193557 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487544 M 14 0 1 SKI HG00514 nsv3172302 1 2193491 2193561 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14432253,nssv14459846 M 9 0 0 SKI HG00514,HG00733 nsv4735311 1 2193497 2193567 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281653 M 25 0 1 SKI nsv5982739 1 2193504 2193573 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528900 M 405 0 1 SKI nsv5982666 1 2193528 2194016 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527309 M 405 0 1 SKI nsv3321660 1 2193535 2193603 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480923 M 14 0 1 SKI HX1 nsv4044181 1 2194968 2216608 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850134 M 10847 0 1 SKI nsv6331438 1 2194968 2216608 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058413 M 19652 0 1 SKI nsv951557 1 2197501 2496100 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997270 M 1 0 1 HES5,LOC100129534,LOC100133445,LOC115110,MORN1,PANK4,PEX10,PLCH2,RER1,SKI,TNFRSF14 BILGI_BIOE nsv528621 1 2199057 2211849 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705251 M 2026 0 1 SKI nsv545070 1 2199057 2231463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708742 M 17421 0 1 SKI nsv5582598 1 2201223 2201402 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062876 M 35 0 1 SKI HG02818 nsv5885673 1 2201223 2201402 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363536 M 914 0 1 SKI nsv3321851 1 2201224 2201403 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485140 M 14 0 1 SKI HG02818 nsv4045776 1 2201991 2202145 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850142 M 10847 0 1 SKI nsv4042700 1 2203160 2203231 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850150 M 10847 0 1 SKI nsv545071 1 2204755 2224836 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708743 M 17421 1 0 SKI nsv6323697 1 2207076 2218858 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058227 M 19652 0 1 SKI nsv3540583 1 2208245 2208245 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440838,nssv14378641 M 9 2 0 SKI HG00733,NA19240 nsv3200958 1 2208245 2215776 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255672,nssv14255671 M 9 0 2 SKI HG00514,NA19240 nsv3213877 1 2208245 2270216 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267489,nssv14275870,nssv14267490 M 9 3 0 MORN1,SKI HG00733,NA19239,NA19240 nsv5867780 1 2209082 2209307 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356450 M 914 0 1 SKI nsv5616833 1 2209096 2209096 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062893 M 35 1 0 SKI NA19238 nsv3182122 1 2209197 2209268 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382501 M 9 0 0 SKI NA19240 esv3665533 1 2211814 2211814 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16488184 M 20 1 0 SKI esv22780 1 2212060 2214175 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv20675 M 40 4 10 SKI NA06985,NA11931,NA11993,NA12006,NA12239,NA12287,NA18508,NA18517,NA18523,NA18909,NA18916,NA19108,NA19240,NA19257 nsv5582332 1 2212092 2212264 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063040 M 35 0 1 SKI HG03732 nsv2800684 1 2212093 2212265 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13676798 M 2 0 1 SKI nsv3280439 1 2212099 2212358 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14405012,nssv14455546,nssv14432421 M 9 0 3 SKI HG00514,HG00733,NA19240 nsv3062041 1 2212109 2212366 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14032027 M 2 0 1 SKI CHM1 nsv4433040 1 2212118 2213357 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15753585 M 15 0 1 SKI NB07 nsv4731554 1 2212133 2212262 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259073 M 25 0 1 SKI nsv5982843 1 2212146 2212402 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526399 M 405 0 1 SKI nsv6052043 1 2212153 2212153 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527422 M 405 1 0 SKI nsv5580032 1 2212156 2212239 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063041 M 35 0 1 SKI HG02818 nsv3322285 1 2212160 2212160 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489987 M 14 1 0 SKI HG04217 nsv2800685 1 2212160 2212246 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13693034 M 2 0 1 SKI nsv3322284 1 2212160 2212246 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478839,nssv14489850,nssv14485094,nssv14477400,nssv14475966,nssv14486834,nssv14491522,nssv14472902,nssv14474373,nssv14490108,nssv14491406 M 14 0 11 SKI CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HX1,NA12878,NA19240 esv1252402 1 2212160 2212373 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3979301 M 2 0 1 SKI HuRef nsv5421651 1 2212177 2213860 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900622 M 3202 0 1 SKI nsv3322133 1 2212195 2212195 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481366 M 14 1 0 SKI HG04217 nsv5982617 1 2212219 2213553 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534054 M 405 0 1 SKI nsv5622706 1 2212289 2212289 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063042 M 35 1 0 SKI HG03125 nsv5582942 1 2212303 2212517 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063043 M 35 0 1 SKI HG00513 nsv5620761 1 2212311 2212311 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063044 M 35 1 0 SKI HG00512 nsv6055780 1 2212311 2212311 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526169 M 405 1 0 SKI nsv5982618 1 2212320 2212485 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526174 M 405 0 1 SKI nsv3322134 1 2212367 2212367 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488841,nssv14477858 M 14 2 0 SKI HG00268,HG04217 nsv3321678 1 2212376 2212376 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475360,nssv14474918 M 14 2 0 SKI HG00268,HG00514 nsv5982619 1 2212385 2212465 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530260 M 405 0 1 SKI nsv3322286 1 2212410 2212410 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474508,nssv14483647 M 14 2 0 SKI HG00268,HG00514 nsv3175787 1 2212455 2212521 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385427,nssv14413476 M 9 0 0 SKI HG00514,NA19240 nsv3321860 1 2212484 2212484 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475583 M 14 1 0 SKI HG02106 nsv5569130 1 2212516 2212578 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063045 M 35 0 1 SKI NA20509 nsv3321861 1 2212542 2213102 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476505,nssv14473526,nssv14480369,nssv14483642 M 14 0 4 SKI HG00514,HG01352,HG04217,NA19240 nsv3282157 1 2212550 2213326 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14407196,nssv14432535 M 9 0 2 SKI HG00514,NA19240 nsv5623460 1 2212569 2212569 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063046 M 35 1 0 SKI HG03486 nsv2801570 1 2212570 2212570 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688519 M 2 1 0 SKI nsv3322287 1 2212570 2212570 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477768 M 14 1 0 SKI CHM13 nsv5982748 1 2212578 2212718 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532616 M 405 0 1 SKI nsv5620115 1 2212581 2212581 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063047 M 35 1 0 SKI NA20509 nsv5567353 1 2212604 2213313 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063048 M 35 0 1 SKI HG00731 nsv3193511 1 2212611 2213870 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14365246 M 9 0 1 SKI NA19239 nsv6041299 1 2212615 2212615 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525734 M 405 1 0 SKI nsv5581928 1 2212617 2212746 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063049 M 35 0 1 SKI NA19239 esv1536883 1 2212641 2212728 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3775323 M 2 0 1 SKI HuRef nsv5624076 1 2212642 2212642 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063050 M 35 1 0 SKI NA19238 nsv5982749 1 2212647 2212711 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520458 M 405 0 1 SKI nsv5982750 1 2212647 2213357 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533297 M 405 0 1 SKI nsv3184268 1 2212648 2212712 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14458352 M 9 0 0 SKI HG00733 nsv6054881 1 2212681 2212681 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529560 M 405 1 0 SKI nsv2800686 1 2212712 2212712 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685758 M 2 1 0 SKI nsv3322135 1 2212712 2212712 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487084 M 14 1 0 SKI CHM1 nsv5605274 1 2212735 2212735 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063051 M 35 1 0 SKI NA19238 nsv6059685 1 2212769 2212769 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519917 M 405 1 0 SKI nsv3321862 1 2212783 2212783 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483087 M 14 1 0 SKI HG04217 esv1025209 1 2212790 2213005 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4025462 M 2 0 1 SKI HuRef nsv6055080 1 2212817 2212817 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527709 M 405 1 0 SKI nsv3065732 1 2212824 2212824 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034775 M 2 1 0 SKI CHM1 nsv3322288 1 2212878 2213006 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479333,nssv14480094,nssv14472725 M 14 0 3 SKI HG00733,HG02059,HX1 nsv3321679 1 2212885 2212885 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487533 M 14 1 0 SKI NA12878 nsv3281223 1 2212885 2213014 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14465919 M 9 0 1 SKI HG00733 nsv5621333 1 2212915 2212915 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063052 M 35 1 0 SKI HG01114 nsv6055625 1 2212931 2212931 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522284 M 405 1 0 SKI nsv5982677 1 2212999 2213142 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525892 M 405 0 1 SKI nsv5610329 1 2213001 2213001 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063053 M 35 1 0 SKI HG00096 nsv3322136 1 2213014 2213099 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473127,nssv14474868 M 14 0 2 SKI HG00268,HG02818 esv1682069 1 2213018 2213276 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4061538 M 2 0 1 SKI HuRef nsv5570368 1 2213036 2213184 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063054 M 35 0 1 SKI HG00731 nsv3321863 1 2213038 2213038 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472413,nssv14491873 M 14 2 0 SKI HG00268,HG02106 nsv5583642 1 2213079 2213399 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063055 M 35 0 1 SKI NA24385 nsv5606993 1 2213080 2213080 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063056 M 35 1 0 SKI HG00732 nsv6057177 1 2213108 2213108 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527603 M 405 1 0 SKI nsv3321864 1 2213123 2213123 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482063 M 14 1 0 SKI NA12878 nsv5982678 1 2213127 2213310 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525186 M 405 0 1 SKI nsv6042463 1 2213128 2213128 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531683 M 405 1 0 SKI nsv5619750 1 2213135 2213135 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063057 M 35 1 0 SKI NA19238 nsv3321865 1 2213152 2213152 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482239,nssv14473859 M 14 2 0 SKI HG00268,NA12878 nsv6046307 1 2213202 2213202 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532934 M 405 1 0 SKI nsv5983066 1 2213208 2213271 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526888 M 405 0 1 SKI nsv3321681 1 2213229 2213229 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486553,nssv14485555 M 14 2 0 SKI HG04217,NA12878 nsv2801402 1 2213235 2213297 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13684455 M 2 0 1 SKI nsv3322138 1 2213235 2213297 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484348,nssv14482818 M 14 0 2 SKI CHM1,HG00514 nsv5982751 1 2213242 2213310 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536193 M 405 0 1 SKI nsv3537392 1 2213255 2213255 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390041 M 9 1 0 SKI NA19240 nsv2801313 1 2213256 2213256 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689917 M 2 1 0 SKI nsv3322289 1 2213256 2213256 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474402,nssv14482434,nssv14473093,nssv14490932 M 14 4 0 SKI CHM13,HG00268,HG00514,HG02106 nsv5604795 1 2213259 2213259 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063061 M 35 1 0 SKI HG00732 nsv3530165 1 2213261 2213261 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413477 M 9 1 0 SKI HG00514 nsv2801314 1 2213278 2213278 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680555 M 2 1 0 SKI nsv3322290 1 2213278 2213278 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491949,nssv14476981,nssv14480562 M 14 3 0 SKI CHM13,HG02106,HG04217 nsv5983067 1 2213284 2213389 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535940 M 405 0 1 SKI nsv5582210 1 2213294 2213356 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063062 M 35 0 1 SKI HG03683 esv1164473 1 2213301 2213387 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3589181 M 2 0 1 SKI HuRef nsv3321682 1 2213302 2213388 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485940,nssv14483438 M 14 0 2 SKI HG00514,HG02059 nsv6053550 1 2213315 2213315 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521811 M 405 1 0 SKI nsv3321683 1 2213364 2213622 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477315,nssv14490693 M 14 0 2 SKI HG01352,HG02818 nsv4753456 1 2213397 2213397 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16270587 M 25 1 0 SKI nsv4735075 1 2213397 2213845 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16287818 M 25 1 0 SKI nsv6060244 1 2213418 2213418 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529858 M 405 1 0 SKI nsv5982752 1 2213431 2213702 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528634 M 405 0 1 SKI nsv6040651 1 2213463 2213463 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526530 M 405 1 0 SKI nsv5610496 1 2213474 2213474 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063063 M 35 1 0 SKI HG00512 nsv3321684 1 2213487 2213487 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485247 M 14 1 0 SKI HG00268 nsv3321685 1 2213514 2213514 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481568 M 14 1 0 SKI NA12878 nsv5571280 1 2213517 2213732 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063064 M 35 0 1 SKI HG03125 nsv3322291 1 2213558 2213686 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488394,nssv14476279,nssv14490037,nssv14483352 M 14 0 4 SKI HG00514,HG00733,HG04217,NA19240 nsv6045724 1 2213560 2213560 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531155 M 405 1 0 SKI nsv5579599 1 2213561 2213646 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063065 M 35 0 1 SKI HG00512 nsv3282945 1 2213564 2213736 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14405036 M 9 0 1 SKI NA19240 nsv5614554 1 2213600 2213600 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063066 M 35 1 0 SKI HG03125 nsv2801403 1 2213647 2213647 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688936 M 2 1 0 SKI nsv3322139 1 2213647 2213647 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481928 M 14 1 0 SKI CHM13 nsv3540465 1 2213660 2213660 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384920 M 9 1 0 SKI NA19240 nsv3321686 1 2213687 2213687 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484182 M 14 1 0 SKI HG04217 nsv5982679 1 2213693 2213904 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527213 M 405 0 1 SKI nsv3056113 1 2213711 2213711 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14016886 M 2 1 0 SKI NA12878 nsv6054688 1 2213718 2213718 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525143 M 405 1 0 SKI nsv6046168 1 2213723 2213723 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533661 M 405 1 0 SKI nsv5614587 1 2213732 2213732 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063067 M 35 1 0 SKI HG02587 nsv3322292 1 2213734 2213734 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477567,nssv14483420 M 14 2 0 SKI HG04217,NA12878 nsv5982753 1 2213773 2213859 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518316 M 405 0 1 SKI nsv5615854 1 2213815 2213815 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063068 M 35 1 0 SKI HG00732 nsv3321866 1 2213818 2213902 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481950 M 14 0 1 SKI NA19240 nsv6059408 1 2213819 2213819 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517553 M 405 1 0 SKI nsv6046581 1 2213857 2213857 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524454 M 405 1 0 SKI nsv5578033 1 2213875 2213960 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063069 M 35 0 1 SKI NA19650 nsv3056114 1 2213877 2213877 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017838 M 2 1 0 SKI NA12878 nsv5982759 1 2216797 2216852 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524030 M 405 0 1 SKI nsv5982682 1 2216965 2227671 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535883 M 405 0 1 SKI nsv4742048 1 2217094 2217163 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16272295 M 25 0 1 SKI nsv6317747 1 2217309 2226347 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059217 M 19652 0 1 SKI nsv6315705 1 2217426 2218884 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059218 M 19652 0 1 SKI nsv5875763 1 2218901 2219552 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353575 M 914 0 1 SKI nsv6326431 1 2218943 2219594 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202740 M 19652 1 0 SKI nsv5612479 1 2220906 2220906 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063213 M 35 1 0 SKI HG02818 nsv6053005 1 2220913 2220913 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530019 M 405 1 0 SKI nsv5982686 1 2220916 2220995 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536972 M 405 0 1 SKI nsv3321879 1 2221025 2221025 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487054 M 14 1 0 SKI HG02818 nsv5876333 1 2231787 2231882 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364620 M 914 0 1 SKI nsv4050059 1 2231787 2231883 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850159 M 10847 0 1 SKI nsv5431241 1 2231787 2231883 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900623 M 3202 0 1 SKI nsv4041475 1 2231941 2232027 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964280 M 10847 1 0 SKI nsv823031 1 2234213 2266305 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426364 M 31 1 0 MORN1,SKI AK6 nsv3223091 1 2234529 2270216 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260244,nssv14260242,nssv14260240,nssv14260243,nssv14260241 M 9 5 0 MORN1,SKI HG00512,HG00513,NA19238,NA19239,NA19240 nsv4038725 1 2235541 2235731 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850169 M 10847 0 1 SKI nsv4742 1 2236164 2282202 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3953,nssv5660,nssv10842,nssv1955,nssv8452 M 9 5 0 LOC100129534,MORN1,SKI NA12156,NA12878,NA18555,NA18956,NA19129 dgv4n67 1 2237528 2241980 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv823586,nsv823253,nsv823142,nsv823475 M 31 4 0 SKI AK12,NA18564,NA18951,NA18969 nsv823364 1 2238295 2241002 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1437213 M 31 1 0 SKI NA18949 nsv5982918 1 2241145 2241269 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536418 M 405 0 1 SKI nsv5623542 1 2241258 2241258 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063470 M 35 1 0 SKI NA19239 nsv4536307 1 2245204 2245205 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028159 M 10847 1 0 "" dgv14n106 1 2245900 2246700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1126169,nsv1136058 M 2 0 2 "" KWS1,KWS2 nsv1076878 1 2245999 2246900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764592 M 1 0 1 "" KWP1 nsv3220139 1 2247964 2259141 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14273661,nssv14273662 M 9 2 0 MORN1 HG00732,HG00733 nsv5420933 1 2253767 2253823 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900624 M 3202 1 0 MORN1 nsv3542355 1 2254108 2254108 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413478 M 9 1 0 MORN1 HG00514 nsv3223586 1 2254108 2259141 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14272861,nssv14272862 M 9 2 0 MORN1 HG00514,HG00731 esv2502867 1 2255698 2258249 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5196708 M 1 0 1 MORN1 NA18507 nsv5577012 1 2256401 2256523 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062917 M 35 0 1 MORN1 HG01596 nsv3197474 1 2256484 2256638 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14366598 M 9 0 1 MORN1 HG00513 nsv4033235 1 2256505 2256570 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964302 M 10847 1 0 MORN1 nsv4750989 1 2256532 2256532 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16259320 M 25 1 0 MORN1 nsv4443984 1 2256544 2256544 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761031 M 1 1 0 MORN1 nsv3530232 1 2256551 2256551 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383268 M 9 1 0 MORN1 NA19240 nsv3321726 1 2256553 2256553 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475462,nssv14484479 M 14 2 0 MORN1 CHM1,HG02818 nsv3951744 1 2256560 2256560 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193690 M 1 1 0 MORN1 HG002 nsv5615694 1 2256560 2256560 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062918 M 35 1 0 MORN1 HG00732 nsv4042765 1 2256571 2256625 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964312 M 10847 1 0 MORN1 nsv5613705 1 2256579 2256579 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062919 M 35 1 0 MORN1 HG00731 nsv2801416 1 2256582 2256582 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680209 M 2 1 0 MORN1 nsv3530229 1 2256584 2256584 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378449 M 9 1 0 MORN1 NA19240 nsv5606250 1 2256585 2256585 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062920,nssv17062921 M 35 2 0 MORN1 HG00864,NA20847 nsv6042839 1 2256585 2256585 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518971 M 405 1 0 MORN1 nsv6042087 1 2256598 2256598 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532627 M 405 1 0 MORN1 nsv3533820 1 2256606 2256606 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384104 M 9 1 0 MORN1 NA19240 nsv3321895 1 2257391 2257451 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472112 M 14 0 1 MORN1 HG02818 nsv5884698 1 2258462 2258777 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361226 M 914 0 1 MORN1 esv3683595 1 2258500 2258729 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468311 M 20 0 1 MORN1 dgv34n152 1 2258572 2258744 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3202364,nsv3193443 M 9 0 5 MORN1 HG00512,HG00513,NA19238,NA19239,NA19240 nsv1133791 1 2258582 2258754 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985251,nssv3967955 M 2 0 2 MORN1 KWS1,KWS2 nsv5878407 1 2258628 2258677 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359211 M 914 0 1 MORN1 nsv5881061 1 2263244 2263437 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361778 M 914 0 1 MORN1 esv3683650 1 2263283 2263380 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468361 M 20 0 1 MORN1 nsv6060377 1 2263288 2263288 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527204 M 405 1 0 MORN1 nsv5567462 1 2263310 2263390 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062939 M 35 0 1 MORN1 HG02011 nsv5982873 1 2263379 2263445 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524062 M 405 0 1 MORN1 nsv5612357 1 2263422 2263422 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062941 M 35 1 0 MORN1 NA19239 nsv5867569 1 2266804 2272231 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369504 M 914 0 1 MORN1 nsv5829545 1 2266926 2272175 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461354 M 914 0 0 MORN1 nsv5618691 1 2267267 2267267 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063262,nssv17063263 M 35 2 0 MORN1 HG03065,HG03486 nsv5961799 1 2267267 2267267 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17367410 M 914 1 0 MORN1 nsv4534656 1 2267268 2267269 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030086 M 10847 1 0 MORN1 nsv5431279 1 2267271 2267371 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900625 M 3202 1 0 MORN1 nsv5433886 1 2271755 2271818 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900629 M 3202 1 0 MORN1 nsv5428787 1 2280053 2280139 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683884 M 3202 1 0 MORN1 nsv5567888 1 2280174 2280239 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063573 M 35 0 1 MORN1 HG02818 nsv5868045 1 2280181 2280246 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363182 M 914 0 1 MORN1 nsv4046436 1 2280195 2280647 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850192 M 10847 0 1 MORN1 nsv1003233 1 2280423 2335505 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696757 M 11257 1 0 LOC100129534,MORN1,RER1 nsv4037190 1 2284096 2285821 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850199 M 10847 0 1 LOC100129534,MORN1 nsv6328258 1 2289940 2314817 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201871 M 19652 1 0 MORN1 nsv5421297 1 2302408 2320279 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900633 M 3202 0 1 MORN1 esv3577699 1 2302911 2320640 CNV loss Uddin_et_al_2014 25503493 SNP array essv9783311 M 873 0 1 MORN1 401011PJ esv3585024 1 2303828 2320328 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841604,essv9841605,essv9841603,essv9841606,essv9841602 M 2504 0 5 MORN1 NA20853,NA20876,NA20911,NA21094,NA21124 nsv520511 1 2307481 2309082 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697462 M 2026 0 1 MORN1 nsv4047344 1 2307693 2307853 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964322 M 10847 1 0 MORN1 nsv5886393 1 2307697 2307845 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17351956 M 914 1 0 MORN1 nsv5423624 1 2307697 2307853 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900634 M 3202 1 0 MORN1 nsv4047909 1 2309392 2309445 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850617 M 10847 0 1 MORN1 nsv5870457 1 2313630 2313679 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355942 M 914 0 1 MORN1 nsv5983031 1 2313632 2313683 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521146 M 405 0 1 MORN1 nsv823697 1 2321132 2337358 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426365 M 31 1 0 MORN1,PEX10,RER1 AK6 nsv6333555 1 2321182 2322536 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059740 M 19652 0 1 MORN1 nsv5829267 1 2322407 2329726 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467163 M 914 0 0 MORN1,RER1 nsv5416539 1 2324165 2324279 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900635 M 3202 0 1 RER1 nsv470684 1 2326009 2847488 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547662,nssv547660,nssv547661,nssv547665,nssv547664,nssv547663,nssv547666,nssv547668,nssv547659,nssv547669,nssv547671,nssv547658,nssv547670 M 443 0 12 FAM213B,HES5,LOC100133445,LOC115110,MMEL1,PANK4,PEX10,PLCH2,RER1,TNFRSF14,TTC34 HGDP00288,HGDP00290,HGDP00302,HGDP00313,HGDP00333,HGDP00546,HGDP00550,HGDP00556,HGDP00657,HGDP00661,HGDP00789,HGDP00978 nsv3115383 1 2328557 2334702 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14096819 M 467 0 1 RER1 sample138 esv2631918 1 2332252 2333247 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5353074 M 1 1 0 RER1 NA18507 nsv4758787 1 2332644 2332644 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265085 M 25 1 0 RER1 nsv4746162 1 2332644 2333119 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16279198 M 25 1 0 RER1 nsv3531105 1 2332657 2332657 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440839 M 9 1 0 RER1 HG00733 nsv3536207 1 2332772 2332772 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413479 M 9 1 0 RER1 HG00514 nsv3945452 1 2332780 2332780 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193718 M 1 1 0 RER1 HG002 nsv2801606 1 2332781 2332781 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681602 M 2 1 0 RER1 nsv6058625 1 2332783 2332783 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535383 M 405 1 0 RER1 nsv2801607 1 2332790 2332790 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678752 M 2 1 0 RER1 nsv5621639 1 2332790 2332790 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063539 M 35 1 0 RER1 HG00731 nsv3538568 1 2332828 2332828 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378649 M 9 1 0 RER1 NA19240 nsv4443985 1 2332845 2332845 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15768322 M 1 1 0 RER1 nsv5611141 1 2332851 2332851 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063541 M 35 1 0 RER1 HG01596 nsv545072 1 2333031 2406887 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708744 M 17421 0 1 PEX10,RER1 dgv1n27 1 2333031 2450394 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv466171,nsv467282 M 1557 0 2 PANK4,PEX10,PLCH2,RER1 HGDP00607,HGDP00614 dgv50n54 1 2333031 2450394 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545073,nsv545074 M 17421 0 2 PANK4,PEX10,PLCH2,RER1 HGDP00607,HGDP00614 nsv512710 1 2333226 2333383 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625334 M 1 1 0 RER1 1 nsv4044127 1 2333781 2334471 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851191 M 10847 0 1 RER1 nsv823808 1 2334580 2335834 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436324 M 31 1 0 RER1 NA18542 nsv5426625 1 2356101 2356212 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900637 M 3202 0 1 "" nsv545075 1 2359981 2390204 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708745 M 17421 0 1 "" nsv470685 1 2359981 2450394 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547672 M 443 1 0 PANK4,PLCH2 HGDP00720 nsv545076 1 2359981 2466633 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708746 M 17421 1 0 HES5,PANK4,PLCH2 nsv545077 1 2359981 2553624 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708747 M 17421 1 0 FAM213B,HES5,LOC100133445,LOC115110,MMEL1,PANK4,PLCH2,TNFRSF14 dgv35n152 1 2361993 2377300 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3212922,nsv3222240 M 9 8 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239 nsv545078 1 2366316 2431057 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172584 M 17421 0 1 PLCH2 HGDP00823 nsv5574486 1 2367318 2367572 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063842 M 35 0 1 "" NA19983 nsv5983159 1 2367373 2367911 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17523043 M 405 1 0 "" nsv6041852 1 2367379 2367379 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536090 M 405 1 0 "" nsv4037445 1 2367455 2367819 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851199 M 10847 0 1 "" nsv5605590 1 2367466 2367466 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063843 M 35 1 0 "" NA19239 nsv4048414 1 2367547 2368155 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964330 M 10847 1 0 "" nsv5574594 1 2367651 2367712 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063845 M 35 0 1 "" NA19239 dgv15n166 1 2367660 2368027 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4045072,nsv4050576 M 10847 2 0 "" nsv6047197 1 2367765 2367765 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533364 M 405 1 0 "" esv3683718 1 2367766 2367949 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468422 M 20 0 1 "" esv2668714 1 2367783 2368009 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5899708,essv6404744,essv5427393,essv5412390,essv6136547,essv5561041,essv6176421,essv5642752,essv6231320,essv5905581,essv5646611,essv5796448,essv5589777,essv5602173,essv6417282,essv6269044,essv6378150,essv5632537,essv5624107,essv6015565,essv6255206,essv6529134,essv6374994,essv6367710,essv6544556,essv5671033,essv5867450,essv6061718,essv5903711,essv6369582,essv6303495,essv5477340,essv6135652,essv6326352,essv6344808,essv5437439,essv6503964,essv6176979,essv5442509,essv6137418,essv5467369,essv6124602,essv5967212,essv6393176,essv6464841,essv6376204,essv6106037,essv5530784,essv6095950,essv6288922,essv6273610,essv5432359,essv5810986,essv5717656,essv5899355,essv5631580,essv5439678,essv6410642,essv5831388,essv6163616,essv6583990,essv6319824,essv5938607,essv6572195,essv5448132,essv6412544,essv6378265,essv6149461,essv5728098,essv5925401,essv5673453,essv5643676,essv5685920,essv5614270,essv6489486,essv6164878,essv5423514,essv5593070,essv5572816,essv6334402,essv6310386,essv6499911,essv6300274,essv6052252,essv6080801,essv6470051,essv5740169,essv6420983,essv6533947,essv6510339,essv6052052,essv5519123,essv5901413,essv6244737,essv5890375,essv5414235,essv5648999,essv6307009,essv5641464,essv5863149,essv5932921,essv5974767,essv5678679,essv5608646,essv6167981,essv5655601,essv6150234,essv5682628,essv5565564,essv6148045,essv5772983,essv5583100,essv5461953,essv6436239,essv6500591,essv5911315,essv6072434,essv6402562,essv6265746,essv5503301,essv5400745,essv5610738,essv5930767,essv5672295,essv5940301,essv5630844,essv5523762,essv5425178,essv5584739 M 1151 0 129 "" HG00125,HG00136,HG00138,HG00139,HG00250,HG00254,HG00275,HG00276,HG00278,HG00281,HG00282,HG00309,HG00310,HG00320,HG00324,HG00325,HG00328,HG00334,HG00336,HG00337,HG00343,HG00375,HG00418,HG00419,HG00422,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00533,HG00534,HG00537,HG00543,HG00583,HG00584,HG00589,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00650,HG00651,HG00653,HG00654,HG00657,HG00663,HG00672,HG00689,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG01052,HG01060,HG01070,HG01083,HG01108,HG01170,HG01171,HG01173,HG01334,HG01350,HG01351,HG01365,HG01390,HG01441,HG01492,NA18530,NA18536,NA18542,NA18543,NA18544,NA18546,NA18548,NA18549,NA18550,NA18557,NA18558,NA18559,NA18561,NA18570,NA18577,NA18582,NA18596,NA18597,NA18599,NA18602,NA18606,NA18610,NA18611,NA18612,NA18613,NA18622,NA18632,NA18637,NA18638,NA18964,NA19371,NA19375,NA19379,NA19381,NA19384,NA19390,NA19394,NA19404,NA19428,NA19720,NA19747 nsv2801619 1 2367790 2367790 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683524 M 2 1 0 "" nsv3322613 1 2367790 2367790 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482111 M 14 1 0 "" CHM1 nsv5582374 1 2367804 2367969 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063846 M 35 0 1 "" HG03486 nsv5619184 1 2367813 2367813 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063847 M 35 1 0 "" NA18534 nsv5983226 1 2367844 2367987 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518078 M 405 0 1 "" nsv6049231 1 2367845 2367845 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535657 M 405 1 0 "" nsv5871658 1 2367845 2367988 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356219 M 914 0 1 "" dgv36n152 1 2367855 2367997 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3198538,nsv3280309,nsv3202851 M 9 0 6 "" HG00512,HG00514,HG00731,HG00733,NA19239,NA19240 esv3560315 1 2367863 2367990 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759062 M 767 0 1 "" nsv2801461 1 2367864 2367926 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13678815 M 2 0 1 "" nsv3322614 1 2367864 2367926 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479366,nssv14486509,nssv14480637,nssv14487877,nssv14489205,nssv14483779 M 14 0 6 "" CHM13,HG00268,HG01352,HG02059,HG02106,HX1 nsv3322449 1 2367869 2367990 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476410,nssv14474132,nssv14480335,nssv14473223,nssv14480766,nssv14472369,nssv14473664 M 14 0 7 "" HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HX1 nsv3280183 1 2367907 2367961 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14467506 M 9 0 1 "" HG00733 nsv5573736 1 2367908 2367984 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063848 M 35 0 1 "" HG00731 nsv6048239 1 2367983 2367983 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526731 M 405 1 0 "" nsv5623874 1 2367985 2367985 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063849 M 35 1 0 "" HG03371 nsv998482 1 2369498 2458799 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479094 M 11257 0 1 PANK4,PLCH2 nsv3189105 1 2370859 2373133 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14466246,nssv14465372 M 9 0 0 "" HG00733 nsv4433075 1 2371001 2372000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15754618,nssv15754135,nssv15752529,nssv15751063,nssv15752080,nssv15748940,nssv15745616 M 15 7 0 "" BTQ055,NB07,NB10,NB11,NB12,SMI018,SMI034 esv3444937 1 2371743 2372156 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652069 M 185 1 0 "" NA19240 nsv5614348 1 2371829 2371829 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063863,nssv17063862 M 35 2 0 "" HG00512,HG00731 nsv4733908 1 2371830 2372823 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16288459 M 25 1 0 "" nsv5983228 1 2371834 2371897 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534857 M 405 0 1 "" nsv5983369 1 2371838 2372128 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17528940 M 405 1 0 "" nsv2800729 1 2371849 2371849 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686892 M 2 1 0 "" nsv3322452 1 2371849 2371849 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483592,nssv14485416,nssv14473595,nssv14484515,nssv14478480,nssv14491345,nssv14474800,nssv14487217,nssv14485432 M 14 9 0 "" CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1 nsv3537769 1 2371859 2371859 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413480 M 9 1 0 "" HG00514 nsv1129125 1 2371864 2371946 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3961801 M 2 1 0 "" KWS1 esv3683780 1 2371881 2372021 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468479 M 20 0 1 "" nsv3532172 1 2371928 2371928 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413481,nssv14376052 M 9 2 0 "" HG00514,NA19240 esv988545 1 2371950 2372019 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577413 M 3 0 1 "" HuRef nsv3925842 1 2371951 2371951 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193741 M 1 1 0 "" HG002 dgv3e199 1 2371960 2374338 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2677055,esv2667055 M 1151 0 1 "" NA18574 nsv6329578 1 2371985 2374312 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059614 M 19652 0 1 "" nsv5425597 1 2371990 2374312 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900640 M 3202 0 1 "" esv1513739 1 2371997 2371997 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4248036 M 2 1 0 "" HuRef dgv37n152 1 2372020 2372088 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3184961,nsv3176197 M 9 0 0 "" HG00514,NA19240 nsv2801462 1 2372021 2372021 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684204 M 2 1 0 "" nsv3322618 1 2372021 2372021 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473815,nssv14485676,nssv14476901,nssv14473416,nssv14483518,nssv14484334,nssv14488261,nssv14480655 M 14 8 0 "" CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG04217,HX1 nsv6058142 1 2372068 2372068 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521051 M 405 1 0 "" nsv5983161 1 2372072 2372135 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524284 M 405 0 1 "" nsv5575921 1 2372072 2372139 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063864 M 35 0 1 "" HG00732 nsv3536818 1 2372073 2372073 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14372738 M 9 1 0 "" NA19240 nsv2801463 1 2372073 2372140 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13676704 M 2 0 1 "" nsv3322906 1 2372073 2372140 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481393,nssv14478599 M 14 0 2 "" CHM1,NA19434 nsv3322619 1 2372076 2372076 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482790 M 14 1 0 "" HG02106 dgv38n152 1 2372076 2372144 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3207371,nsv3209539 M 9 0 5 "" HG00512,HG00513,HG00514,HG00731,NA19240 nsv3532035 1 2372088 2372088 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413484 M 9 1 0 "" HG00514 nsv5608652 1 2372088 2372088 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063866,nssv17063865 M 35 2 0 "" HG02818,NA19239 nsv1145306 1 2372093 2372161 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982397 M 2 0 1 "" KWS1 nsv3536628 1 2372132 2372132 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413485 M 9 1 0 "" HG00514 nsv2801622 1 2372133 2372133 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678217 M 2 1 0 "" nsv3540897 1 2372141 2372141 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379253 M 9 1 0 "" NA19240 nsv3539094 1 2372149 2372149 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387813 M 9 1 0 "" NA19240 nsv4045225 1 2372166 2374312 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850375 M 10847 0 1 "" esv3585025 1 2372200 2374164 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841607 M 2504 0 1 "" NA18574 nsv6331856 1 2372344 2372833 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059616 M 19652 0 1 "" esv3585026 1 2374226 2379823 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841616,essv9841627,essv9841614,essv9841625,essv9841615,essv9841628,essv9841611,essv9841631,essv9841610,essv9841624,essv9841612,essv9841632,essv9841613,essv9841619,essv9841609,essv9841618,essv9841608,essv9841629,essv9841630,essv9841621,essv9841626,essv9841633,essv9841617,essv9841620,essv9841622,essv9841623 M 2504 26 0 "" HG00130,HG00355,HG02087,HG02089,HG02301,HG02318,HG02479,HG02484,HG02485,NA12815,NA18525,NA18640,NA18643,NA18747,NA18749,NA18939,NA18946,NA18957,NA18993,NA19031,NA19035,NA19038,NA19086,NA19141,NA19184,NA19308 esv2758914 1 2376254 2380249 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757718 M 270 0 1 "" NA18508 nsv6328554 1 2381496 2400548 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200673 M 19652 1 0 "" nsv5433887 1 2381514 2381597 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900641 M 3202 1 0 "" nsv6051306 1 2382072 2382072 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535786 M 405 1 0 "" nsv4761640 1 2382075 2382075 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265765 M 25 1 0 "" nsv5622388 1 2382115 2382115 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064061,nssv17064062 M 35 2 0 "" HG00731,HG03732 nsv4050990 1 2382117 2382189 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965113 M 10847 1 0 "" nsv2800732 1 2382123 2382123 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690562 M 2 1 0 "" nsv2801365 1 2382135 2382135 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682951 M 2 1 0 "" nsv3533064 1 2382135 2382135 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440840 M 9 1 0 "" HG00733 nsv6059476 1 2382136 2382136 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522135 M 405 1 0 "" nsv5716308 1 2387386 2387386 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236296 M 3202 1 0 "" nsv6324142 1 2388211 2392359 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059784 M 19652 0 1 "" esv25748 1 2390213 2391302 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15167,esv12176 M 40 0 12 "" NA06985,NA11894,NA12004,NA12239,NA12287,NA18511,NA18858,NA18909,NA18916,NA19129,NA19147,NA19240 nsv6318068 1 2390213 2392055 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059800 M 19652 0 1 "" nsv545079 1 2390588 2450394 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708748 M 17421 0 1 PANK4,PLCH2 nsv4745471 1 2390745 2390935 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16294386 M 25 0 1 "" nsv5874377 1 2390753 2390880 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369246 M 914 0 1 "" esv3560426 1 2390764 2390988 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759173 M 767 0 1 "" nsv1147208 1 2390777 2390986 CNV deletion John_et_al_2014 26484159 Sequencing nssv3999979 M 1 0 1 "" KWB1 nsv1121437 1 2390803 2390961 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965437 M 2 0 1 "" KWS2 esv2668467 1 2390806 2391052 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5501976,essv5684170,essv5551336,essv6090319,essv6536705,essv6051290,essv6180823,essv5887270,essv5744948,essv5471300,essv6057652,essv5689636,essv5825375,essv5602357,essv5865427,essv5575722,essv6363664,essv5875862,essv6394630,essv6203532,essv5809808,essv6425849,essv5821058,essv6068947,essv6409874,essv5555656,essv5613929,essv5581589,essv5929017,essv5879513,essv6015336,essv5688839,essv6107284,essv5551010,essv5403060,essv5640198,essv5726242,essv5551104,essv6224671,essv5425402,essv6551632,essv6325270,essv5538854,essv6141211,essv6540434,essv5738711,essv5447025,essv5538311,essv5914838,essv6185226,essv5920836,essv6284888,essv6544336,essv5963925,essv6551924,essv6105477,essv6409825,essv6029442,essv5519074,essv5475603,essv6238640,essv5807802,essv5815536,essv5415337,essv5558047,essv5923266,essv6416104,essv5990143,essv5964575,essv5897044,essv5476099,essv6459378,essv5914379,essv5505829,essv5804372,essv5438814,essv5995244,essv5735619,essv5843562,essv5948931,essv5994541,essv5753449,essv6057284,essv6406748,essv5775590,essv5934369,essv6494753,essv6365388,essv6281611,essv6296062,essv5546308,essv5456432,essv5987314,essv5547485,essv5598418,essv5631318,essv5519029,essv5984136,essv6072856,essv6226517,essv6247847,essv6475241,essv6096498,essv6081812,essv5492017,essv5448530,essv6577821,essv5478507,essv6486007,essv5505273,essv5613982,essv6219456,essv6014555,essv6504100,essv6221066,essv5710726,essv6090639,essv6123846,essv6569569,essv6512160,essv6318976,essv6364378,essv5780323,essv5506006,essv5859906,essv5835922,essv5755072,essv6519149,essv6055830,essv5563893,essv5844195,essv5684887 M 1151 0 132 "" HG00124,HG00125,HG00136,HG00138,HG00139,HG00159,HG00185,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00258,HG00260,HG00261,HG00268,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00310,HG00313,HG00315,HG00318,HG00320,HG00321,HG00323,HG00327,HG00334,HG00335,HG00337,HG00338,HG00339,HG00342,HG00345,HG00346,HG00375,HG00418,HG00419,HG00421,HG00422,HG00427,HG00437,HG00448,HG00476,HG00478,HG00479,HG00500,HG00501,HG00513,HG00524,HG00536,HG00537,HG00543,HG00557,HG00581,HG00584,HG00589,HG00613,HG00650,HG00651,HG00654,HG00662,HG00663,HG00684,HG00690,HG00692,HG00693,HG00699,HG00704,HG00740,HG01048,HG01052,HG01055,HG01060,HG01061,HG01066,HG01069,HG01070,HG01080,HG01082,HG01083,HG01101,HG01102,HG01107,HG01170,HG01171,HG01204,HG01334,HG01350,HG01353,HG01357,HG01374,HG01375,HG01390,HG01440,HG01441,HG01462,HG01488,NA12003,NA18532,NA18542,NA18543,NA18549,NA18557,NA18566,NA18570,NA18572,NA18596,NA18597,NA18599,NA18610,NA18613,NA18621,NA18623,NA18624,NA18633,NA18636,NA18964,NA19257,NA19372,NA19374,NA19379,NA19770,NA20543 nsv3929787 1 2390865 2390928 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15183385 M 1 0 1 "" HG002 nsv5570093 1 2390865 2390928 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063736 M 35 0 1 "" HG00732 nsv4448717 1 2390865 2390929 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15766620 M 1 0 1 "" nsv3280851 1 2390866 2390930 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14405078 M 9 0 1 "" NA19240 nsv2801470 1 2390866 2390961 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13693176 M 2 0 1 "" nsv3322477 1 2390866 2390961 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491048,nssv14488546,nssv14490886 M 14 0 3 "" CHM13,HG00733,HX1 nsv3281559 1 2390866 2390962 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14463732 M 9 0 1 "" HG00733 nsv5983181 1 2390889 2391062 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523168 M 405 0 1 "" nsv5565543 1 2390889 2391080 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063737 M 35 0 1 "" HG00731 esv3683824 1 2390889 2391082 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468518 M 20 0 1 "" dgv39n152 1 2390890 2394439 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3198158,nsv3205316 M 9 0 9 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4433078 1 2390895 2391109 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15750657 M 15 0 1 "" SMI034 nsv6046334 1 2390965 2390965 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537413 M 405 1 0 "" nsv6044136 1 2391041 2391041 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518827 M 405 1 0 "" esv3683885 1 2393451 2393639 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468573 M 20 0 1 "" esv989190 1 2393688 2393688 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3583245 M 3 1 0 "" HuRef nsv5609412 1 2393689 2393689 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063756 M 35 1 0 "" HG00732 nsv2801121 1 2393690 2393690 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690148 M 2 1 0 "" nsv3323095 1 2393690 2393690 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474732 M 14 1 0 "" CHM1 nsv4760673 1 2393697 2393697 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288204 M 25 1 0 "" nsv6042682 1 2393720 2393720 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531415 M 405 1 0 "" esv1307242 1 2393777 2393777 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3609131 M 2 1 0 "" HuRef nsv545080 1 2395452 2485433 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708749 M 17421 0 1 HES5,LOC115110,PANK4,PLCH2 esv3585028 1 2397655 2401469 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841642,essv9841705,essv9841645,essv9841700,essv9841643,essv9841683,essv9841646,essv9841695,essv9841644,essv9841693,essv9841712,essv9841639,essv9841672,essv9841726,essv9841641,essv9841691,essv9841724,essv9841640,essv9841696,essv9841710,essv9841634,essv9841680,essv9841717,essv9841635,essv9841692,essv9841720,essv9841638,essv9841684,essv9841707,essv9841636,essv9841681,essv9841716,essv9841637,essv9841671,essv9841727,essv9841674,essv9841709,essv9841675,essv9841706,essv9841687,essv9841728,essv9841701,essv9841708,essv9841699,essv9841714,essv9841685,essv9841718,essv9841688,essv9841719,essv9841703,essv9841725,essv9841682,essv9841722,essv9841689,essv9841723,essv9841690,essv9841715,essv9841678,essv9841721,essv9841673,essv9841729,essv9841702,essv9841713,essv9841686,essv9841711,essv9841698,essv9841665,essv9841676,essv9841657,essv9841704,essv9841653,essv9841677,essv9841654,essv9841694,essv9841652,essv9841679,essv9841660,essv9841697,essv9841656,essv9841669,essv9841655,essv9841668,essv9841650,essv9841667,essv9841651,essv9841670,essv9841661,essv9841666,essv9841649,essv9841659,essv9841658,essv9841662,essv9841664,essv9841647,essv9841648,essv9841663 M 2504 96 0 "" HG00097,HG00099,HG00128,HG00130,HG00234,HG00350,HG00355,HG00437,HG00982,HG01344,HG01345,HG01626,HG01630,HG01880,HG01915,HG02002,HG02060,HG02082,HG02084,HG02087,HG02089,HG02090,HG02104,HG02134,HG02138,HG02139,HG02140,HG02141,HG02277,HG02278,HG02285,HG02301,HG02479,HG02484,HG02485,HG02497,HG02508,NA12812,NA12872,NA12874,NA18574,NA18640,NA18642,NA18643,NA18645,NA18647,NA18745,NA18748,NA18749,NA18757,NA18979,NA19007,NA19028,NA19031,NA19035,NA19041,NA19068,NA19086,NA19096,NA19121,NA19149,NA19184,NA19307,NA19308,NA19309,NA19310,NA19314,NA19316,NA19338,NA19346,NA19350,NA19355,NA19376,NA19397,NA19401,NA19438,NA19466,NA19625,NA19663,NA19703,NA19734,NA19735,NA19740,NA19794,NA19916,NA19920,NA19923,NA19984,NA20298,NA20339,NA21106,NA21107,NA21108,NA21109,NA21112,NA21119 nsv5983416 1 2399954 2400007 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536872 M 405 0 1 "" nsv6331249 1 2400080 2401891 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059874 M 19652 0 1 "" nsv545081 1 2406887 2446880 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172585 M 17421 0 1 PANK4,PLCH2 HGDP01048 nsv5425714 1 2407718 2407853 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900642 M 3202 0 1 PLCH2 nsv4044000 1 2408000 2415000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965128 M 10847 1 0 PLCH2 nsv823920 1 2413744 2483841 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440793 M 31 1 0 HES5,LOC115110,PANK4,PLCH2 NA18969 nsv5983458 1 2415205 2415264 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520217 M 405 0 1 PLCH2 nsv5983359 1 2415256 2415330 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527901 M 405 0 1 PLCH2 nsv3322562 1 2415275 2415341 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487017,nssv14483534,nssv14488279 M 14 0 3 PLCH2 CHM1,HG00268,NA12878 nsv2801889 1 2415276 2415341 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13685052 M 2 0 1 PLCH2 nsv3323694 1 2415307 2415395 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474300,nssv14489478,nssv14487211 M 14 0 3 PLCH2 HG00268,HG01352,NA12878 nsv3280285 1 2415310 2415375 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14462884 M 9 0 1 PLCH2 HG00733 nsv5983587 1 2415336 2415405 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535728 M 405 0 1 PLCH2 nsv5613112 1 2415337 2415337 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064143 M 35 1 0 PLCH2 HG00512 nsv3538078 1 2415357 2415357 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413486 M 9 1 0 PLCH2 HG00514 nsv3323695 1 2415398 2415462 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483188 M 14 0 1 PLCH2 HG00514 nsv6049109 1 2415459 2415459 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524458 M 405 1 0 PLCH2 esv3683914 1 2416985 2417070 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468600 M 20 0 1 PLCH2 nsv818222 1 2424122 2485433 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417514,nssv1417806 M 112 0 2 HES5,LOC115110,PANK4,PLCH2 NA18853,NA18968 nsv4035785 1 2432000 2439000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965143 M 10847 1 0 PLCH2 nsv5983604 1 2432232 2432296 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522516 M 405 0 1 PLCH2 nsv3214976 1 2440322 2455382 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14273969 M 9 1 0 PANK4 HG00731 nsv7171 1 2443998 2538071 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10990,nssv9802,nssv2141,nssv10864,nssv5743,nssv6533,nssv1241,nssv1153,nssv9287,nssv4052,nssv9849,nssv5821,nssv6621,nssv10880,nssv4140,nssv2047 M 9 0 0 FAM213B,HES5,LOC100133445,LOC115110,MMEL1,PANK4,TNFRSF14 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv6244293 1 2450558 2450558 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17855933 M 1021 1 0 PANK4 nsv1122281 1 2450828 2450884 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969734 M 2 0 1 PANK4 KWS2 nsv824031 1 2452239 2483097 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426366 M 31 1 0 HES5,LOC115110,PANK4 AK6 esv2583485 1 2453635 2454448 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5387623 M 1 1 0 PANK4 NA18507 nsv1119397 1 2454096 2454189 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3959839 M 2 1 0 PANK4 KWS1 nsv4443986 1 2454128 2454128 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762044 M 1 1 0 PANK4 nsv3538471 1 2454129 2454129 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377460 M 9 1 0 PANK4 NA19240 nsv3197143 1 2454129 2454287 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14366202,nssv14366206,nssv14366203,nssv14366205,nssv14366204 M 9 5 0 PANK4 HG00512,HG00513,HG00514,NA19238,NA19240 dgv15n106 1 2454148 2454255 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1133123,nsv1125448 M 2 2 0 PANK4 KWS1,KWS2 esv3402792 1 2454213 2454431 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652074 M 185 1 0 PANK4 NA19240 nsv1126965 1 2454224 2454290 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985252 M 2 0 1 PANK4 KWS1 nsv5983605 1 2454229 2454412 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17519542 M 405 1 0 PANK4 nsv3534839 1 2454230 2454230 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440842,nssv14413487 M 9 2 0 PANK4 HG00514,HG00733 nsv3941105 1 2454230 2454230 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193790 M 1 1 0 PANK4 HG002 nsv5619107 1 2454230 2454230 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064631 M 35 1 0 PANK4 HG00731 nsv2801800 1 2454231 2454231 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13704841 M 2 1 0 PANK4 nsv3323422 1 2454231 2454231 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474927,nssv14479332,nssv14476073,nssv14479336,nssv14480124,nssv14488464,nssv14489317,nssv14473747,nssv14477456,nssv14486215,nssv14479451,nssv14475359,nssv14484189,nssv14473467 M 14 14 0 PANK4 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv6043074 1 2454248 2454248 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518707 M 405 1 0 PANK4 nsv3060797 1 2454252 2454252 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025126 M 2 1 0 PANK4 CHM1 esv1165961 1 2454255 2454255 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3796592 M 2 1 0 PANK4 HuRef nsv3531094 1 2454260 2454260 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413488,nssv14440843 M 9 2 0 PANK4 HG00514,HG00733 nsv3541276 1 2454270 2454270 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385186 M 9 1 0 PANK4 NA19240 nsv1145307 1 2454311 2454376 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982398 M 2 0 1 PANK4 KWS1 nsv1116581 1 2454376 2454441 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978763 M 2 1 0 PANK4 KWS2 nsv1 1 2456590 2485433 OTHER inversion Tuzun_et_al_2005 15895083 BAC aCGH,PCR,Sequencing nssv1 M 1 0 0 HES5,LOC115110,PANK4 NA15510 nsv545082 1 2467670 2528682 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708750 M 17421 0 1 FAM213B,LOC100133445,LOC115110,MMEL1,TNFRSF14 nsv5420889 1 2469572 2469869 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900651 M 3202 0 1 "" nsv6058043 1 2469881 2469881 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537150 M 405 1 0 "" nsv6042002 1 2469943 2469943 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534492 M 405 1 0 "" nsv4035470 1 2470804 2470932 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850205 M 10847 0 1 "" nsv4042051 1 2472062 2472253 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850214 M 10847 0 1 "" nsv436691 1 2485434 2497301 OTHER inversion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466250 M 2 0 0 LOC100133445,TNFRSF14 NA18505 esv3447351 1 2485434 2498910 OTHER inversion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808959 M 185 0 0 LOC100133445,TNFRSF14 NA12878 dgv1n47 1 2485434 2499127 OTHER inversion Kidd_et_al_2010b 21111241 Sequencing nsv499113,nsv499569,nsv499637 M 9 0 0 LOC100133445,TNFRSF14 dgv1n50 1 2485434 2499127 OTHER inversion Arlt_et_al_2011 21212237 Sequencing,SNP array nsv513633,nsv513632 M 1 0 0 LOC100133445,TNFRSF14 1 esv1699286 1 2485434 2499127 OTHER inversion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4270452 M 2 0 0 LOC100133445,TNFRSF14 HuRef esv2471749 1 2485434 2499127 OTHER inversion McKernan_et_al_2009 19546169 Sequencing essv5165573 M 1 0 0 LOC100133445,TNFRSF14 NA18507 nsv4517104 1 2490559 2490844 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850223 M 10847 0 1 TNFRSF14 nsv824475 1 2493012 2493455 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431952 M 31 0 1 TNFRSF14 NA18972 nsv824364 1 2493012 2494114 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434859 M 31 0 1 TNFRSF14 NA18942 nsv951592 1 2496301 2545400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997281 M 1 0 1 FAM213B,MMEL1 BILGI_BIOE dgv5n67 1 2496335 2497984 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv824142,nsv824253 M 31 0 2 "" AK20,NA18972 nsv829648 1 2499128 2572340 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1450739 M 95 0 1 FAM213B,MMEL1 nsv5608242 1 2499878 2499878 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064647 M 35 1 0 "" HG02587 esv3582248 1 2501338 2567987 CNV gain Uddin_et_al_2014 25503493 SNP array essv9783422 M 873 1 0 FAM213B,MMEL1 401288LD nsv545083 1 2507415 2584538 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708751 M 17421 1 0 FAM213B,MMEL1,TTC34 nsv4046271 1 2511962 2512569 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850234 M 10847 0 1 "" nsv5421858 1 2511962 2512569 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900662 M 3202 0 1 "" nsv4035586 1 2514645 2514743 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850244 M 10847 0 1 "" nsv4033420 1 2516000 2521000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963269 M 10847 1 0 FAM213B nsv4048262 1 2517761 2517953 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850251 M 10847 0 1 FAM213B nsv4037398 1 2523000 2528000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963279 M 10847 1 0 MMEL1 nsv1136059 1 2523700 2524100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989664 M 2 0 1 MMEL1 KWS2 nsv3323426 1 2523746 2523817 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488162 M 14 0 1 MMEL1 HG02818 nsv5419934 1 2523751 2524047 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901609 M 3202 0 1 MMEL1 nsv4737237 1 2523762 2523973 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16275743 M 25 0 1 MMEL1 dgv40n152 1 2523769 2523932 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3281053,nsv3281572 M 9 0 3 MMEL1 HG00514,HG00733,NA19240 nsv5568011 1 2523792 2523998 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064293 M 35 0 1 MMEL1 HG00731 nsv3203951 1 2523792 2523999 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14369958 M 9 0 1 MMEL1 NA19239 nsv4448718 1 2523792 2523999 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15763531 M 1 0 1 MMEL1 nsv5983611 1 2523794 2524004 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531818 M 405 0 1 MMEL1 nsv5875862 1 2523817 2524046 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361097 M 914 0 1 MMEL1 nsv3926695 1 2523817 2524047 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15183411 M 1 0 1 MMEL1 HG002 nsv3324119 1 2523818 2524048 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473001,nssv14487712,nssv14484129,nssv14474240,nssv14482100,nssv14475985,nssv14475295,nssv14490393,nssv14484563 M 14 0 9 MMEL1 HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,NA19240,NA19434 nsv5579363 1 2523864 2523954 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064294 M 35 0 1 MMEL1 NA19983 nsv5614686 1 2524045 2524045 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064295 M 35 1 0 MMEL1 HG03486 nsv5829662 1 2524385 2527784 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468508 M 914 0 0 MMEL1 esv3585029 1 2524546 2527727 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841730 M 2504 0 1 MMEL1 HG04225 nsv5885331 1 2524559 2527735 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368851 M 914 0 1 MMEL1 nsv5416789 1 2524561 2527736 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901622 M 3202 0 1 MMEL1 nsv6324703 1 2528902 2538993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060562 M 19652 0 1 MMEL1 nsv4040440 1 2528903 2538993 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851011 M 10847 0 1 MMEL1 nsv1144338 1 2531202 2531267 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995082 M 2 0 1 MMEL1 KWS1 esv3665961 1 2531650 2531650 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16488569 M 20 1 0 MMEL1 esv3666029 1 2532162 2532162 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16488630 M 20 1 0 MMEL1 nsv4443987 1 2533554 2533554 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15767007 M 1 1 0 MMEL1 nsv5611471 1 2533554 2533554 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064297 M 35 1 0 MMEL1 HG00731 nsv4534444 1 2533554 2533555 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028730 M 10847 1 0 MMEL1 nsv3206440 1 2533554 2533628 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14371738,nssv14371736,nssv14371743,nssv14371742,nssv14371737,nssv14371740,nssv14371735,nssv14371739,nssv14371741 M 9 9 0 MMEL1 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5418042 1 2533554 2533628 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901633 M 3202 1 0 MMEL1 nsv4756251 1 2533558 2533558 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16260318 M 25 1 0 MMEL1 nsv3948654 1 2533603 2533603 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193825 M 1 1 0 MMEL1 HG002 dgv41n152 1 2533603 2533688 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3180506,nsv3186249 M 9 0 0 MMEL1 HG00514,HG00733,NA19240 nsv3323724 1 2533604 2533604 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479462,nssv14475412,nssv14491686,nssv14477000,nssv14478962,nssv14472858,nssv14486135,nssv14472541 M 14 8 0 MMEL1 HG00268,HG00733,HG02059,HG02106,HG02818,HG04217,NA19240,NA19434 nsv6049791 1 2533609 2533609 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523095 M 405 1 0 MMEL1 esv3684032 1 2539584 2539636 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468705 M 20 0 1 MMEL1 nsv3203868 1 2540335 2540434 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14368584 M 9 0 1 MMEL1 NA19240 nsv6327789 1 2548907 2550986 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060572 M 19652 0 1 MMEL1 nsv428399 1 2553978 3152490 CNV gain Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv452575 M 62 1 0 ACTRT2,LINC00982,MIR4251,MMEL1,PRDM16,TTC34 HGDP00450 nsv6335010 1 2554378 2559674 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060574 M 19652 0 1 MMEL1 nsv951593 1 2559501 2577400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997292 M 1 0 1 MMEL1,TTC34 BILGI_BIOE nsv6329276 1 2561159 2561852 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060578 M 19652 0 1 MMEL1 dgv19e59 1 2561592 2562790 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3399585,esv3368203 M 185 2 0 MMEL1 NA19239,NA19240 nsv4034687 1 2562058 2562132 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851030 M 10847 0 1 MMEL1 nsv5974825 1 2562749 2565327 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17369303 M 914 0 0 MMEL1 nsv5829930 1 2562806 2566334 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464034 M 914 0 0 MMEL1 nsv3531495 1 2563428 2563428 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379967 M 9 1 0 MMEL1 NA19240 esv21805 1 2565924 2634182 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv21190,esv12744,esv12824,esv12016,esv16589,esv18116 M 40 23 8 TTC34 NA06985,NA07037,NA07045,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18508,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19190,NA19225,NA19240 nsv6137941 1 2565963 2566584 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901655 M 3202 0 1 "" nsv511152 1 2566002 2566482 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626021 M 1 0 1 "" 1 esv1931226 1 2566029 2566723 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4612274 M 1 0 1 "" NA18507 nsv2801900 1 2566132 2566181 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13683730 M 2 0 1 "" nsv3324122 1 2566132 2566181 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481561,nssv14485796,nssv14472306 M 14 0 3 "" CHM13,HG00514,NA19240 nsv4433107 1 2566164 2566582 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15753732 M 15 0 1 "" NB10 nsv5570430 1 2566181 2566582 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064305 M 35 0 1 "" HG00512 esv3684070 1 2566181 2566584 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468740 M 20 0 1 "" nsv5983614 1 2566182 2566586 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524266 M 405 0 1 "" esv2669821 1 2566195 2566623 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6162007,essv5639073,essv6144433,essv5471160,essv6041178,essv6169758,essv6520633,essv5433007,essv5552992,essv6025747,essv5517716,essv6588197,essv5522908,essv5980680,essv5463132,essv5481367,essv6594080,essv6132494,essv6328384,essv6088009,essv6109200,essv5946004,essv6217295,essv5690458,essv5972540,essv5411742,essv6529647,essv6000041,essv5721497,essv5666396,essv5601616,essv5897265,essv6393770,essv6090582,essv6394674,essv5842808,essv6068516,essv5501129,essv6039374,essv5816058,essv5415958,essv6568242,essv6059728,essv6081713,essv6521997,essv5693082,essv6339798,essv5702203,essv6526087,essv6204263,essv5837505,essv5796693,essv5900200,essv5608652,essv5759687,essv5741752,essv5679435,essv5861950,essv6230234,essv6169480,essv6331001,essv5938131,essv5713670,essv5774401,essv5936146,essv5838103,essv6370619,essv6376974,essv5788468,essv6078969,essv6289413,essv5655408,essv5997909,essv5884891,essv6115352,essv5752773,essv6363573,essv6016573,essv5558599,essv6363658,essv5539969,essv5607775,essv6368487,essv5546957,essv6519108,essv5711594,essv6483210,essv6090000,essv6034164,essv6451395,essv6443064,essv5814263,essv5483427,essv6273379,essv5484855,essv6517570,essv5502647,essv5771945,essv6431904,essv6351205,essv6558785,essv5716031,essv6160881,essv5462610,essv6489999,essv6083878,essv6237014,essv6541573,essv6075008,essv5568489,essv6488723,essv5659713,essv5790573 M 1151 0 113 "" HG00100,HG00103,HG00108,HG00111,HG00112,HG00123,HG00133,HG00136,HG00137,HG00152,HG00174,HG00180,HG00232,HG00236,HG00237,HG00243,HG00250,HG00275,HG00284,HG00285,HG00313,HG00328,HG00331,HG00336,HG00342,HG00346,HG00369,HG00478,HG00512,HG00543,HG00610,HG00613,HG00654,HG00684,HG00692,HG00693,HG00704,HG00734,HG01047,HG01055,HG01066,HG01069,HG01082,HG01124,HG01134,HG01136,HG01140,HG01334,HG01354,HG01356,HG01359,HG01441,HG01461,HG01521,NA07051,NA11930,NA12154,NA12282,NA12717,NA12748,NA12778,NA12829,NA12830,NA18489,NA18520,NA18542,NA18550,NA18566,NA18579,NA18612,NA18616,NA19093,NA19102,NA19130,NA19213,NA19313,NA19315,NA19317,NA19331,NA19372,NA19377,NA19394,NA19399,NA19403,NA19438,NA19439,NA19443,NA19455,NA19463,NA19468,NA19625,NA19663,NA19675,NA19676,NA19678,NA19685,NA19703,NA19818,NA19920,NA20299,NA20332,NA20341,NA20356,NA20516,NA20525,NA20530,NA20582,NA20757,NA20768,NA20778,NA20795,NA20818,NA20819 esv3560981 1 2566218 2566635 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759728 M 767 0 1 "" nsv5874845 1 2566220 2566621 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356399 M 914 0 1 "" dgv42n152 1 2566223 2566642 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282152,nsv3281033 M 9 0 2 "" HG00514,NA19240 nsv2801901 1 2566232 2566583 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13680952 M 2 0 1 "" nsv3323428 1 2566232 2566583 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480945,nssv14479974,nssv14473069,nssv14490397 M 14 0 4 "" CHM13,HG00514,HX1,NA19240 nsv5417333 1 2566309 2566583 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901663 M 3202 0 1 "" nsv4760701 1 2566437 2566437 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16285601 M 25 1 0 "" nsv5621864 1 2566482 2566482 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064306 M 35 1 0 "" HG00732 nsv6044846 1 2566483 2566483 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535434 M 405 1 0 "" nsv3929171 1 2566489 2566489 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193842 M 1 1 0 "" HG002 nsv2801902 1 2566498 2566498 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678959 M 2 1 0 "" nsv3323227 1 2566498 2566498 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481252,nssv14488831 M 14 2 0 "" CHM1,NA12878 esv1624207 1 2566517 2566517 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4164733 M 2 1 0 "" HuRef nsv3173279 1 2566519 2566586 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440845 M 9 0 0 "" HG00733 nsv3323228 1 2566536 2566536 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481483 M 14 1 0 "" HX1 nsv5968109 1 2567013 2569074 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17360188 M 914 0 0 "" nsv5872917 1 2570822 2570894 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364923 M 914 0 1 "" esv994553 1 2572467 2584079 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565426 M 3 1 0 TTC34 HuRef nsv4038782 1 2575891 2580043 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851041 M 10847 0 1 TTC34 nsv824586 1 2580468 2583441 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1438579 M 31 1 0 TTC34 NA18973 dgv32n223 1 2580840 2583539 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6329293,nsv6324798 M 19652 0 2 TTC34 nsv6315656 1 2580936 2581464 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203474 M 19652 1 0 TTC34 nsv3537970 1 2581232 2581232 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413490 M 9 1 0 TTC34 HG00514 nsv1149955 1 2581299 2634200 CNV duplication John_et_al_2014 26484159 Sequencing nssv3998741 M 1 1 0 TTC34 KWB1 dgv16n106 1 2581400 2634200 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1132276,nsv1124558 M 2 2 0 TTC34 KWS1,KWS2 nsv5576940 1 2581585 2581666 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064313 M 35 0 1 TTC34 NA12878 nsv545084 1 2582041 2586303 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708752 M 17421 0 1 TTC34 nsv4050727 1 2582157 2583466 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963294 M 10847 1 0 TTC34 dgv33n223 1 2582240 2614539 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6330535,nsv6325376 M 19652 2 0 TTC34 nsv545085 1 2582340 2586303 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708753 M 17421 1 0 TTC34 nsv6317169 1 2582502 2582911 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203476 M 19652 1 0 TTC34 nsv161117 1 2583029 2583595 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179695 M 24 TTC34 dgv20e59 1 2583092 2634190 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3450152,esv3414646,esv3429744,esv3435510,esv3380852,esv3350831 M 185 6 0 TTC34 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv5566136 1 2583447 2583649 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064315 M 35 0 1 TTC34 HG01596 esv3684100 1 2583447 2583850 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468767 M 20 0 1 TTC34 nsv1122282 1 2583461 2583511 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995083,nssv3967956 M 2 0 2 TTC34 KWS1,KWS2 nsv5580095 1 2583499 2586828 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064316 M 35 0 1 TTC34 NA20847 nsv1075768 1 2583499 2631900 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3772286 M 1 1 0 TTC34 KWP1 nsv951028 1 2583501 2587500 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997303 M 1 1 0 TTC34 BILGI_BIOE nsv4758999 1 2583504 2583504 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295506 M 25 1 0 TTC34 nsv3533521 1 2583509 2583509 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440846 M 9 1 0 TTC34 HG00733 nsv3538325 1 2583542 2583542 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388208 M 9 1 0 TTC34 NA19240 nsv5608030 1 2583556 2583556 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064317 M 35 1 0 TTC34 HG00731 nsv2801803 1 2583557 2583557 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690819 M 2 1 0 TTC34 nsv3323230 1 2583557 2583557 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488583,nssv14490112,nssv14489241,nssv14484514,nssv14476125,nssv14490610,nssv14487473 M 14 7 0 TTC34 CHM13,HG01352,HG02059,HG02818,HG04217,NA12878,NA19240 nsv3931988 1 2583558 2583558 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193857 M 1 1 0 TTC34 HG002 dgv1n6 1 2583559 2591089 CNV deletion Mills_et_al_2006 16902084 Sequencing nsv160178,nsv160392 M 24 TTC34 nsv2802068 1 2583560 2583560 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690262 M 2 1 0 TTC34 nsv6047258 1 2583566 2583566 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526096 M 405 1 0 TTC34 esv1381913 1 2583570 2583570 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4214883 M 2 1 0 TTC34 HuRef nsv5614521 1 2583593 2583593 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064318 M 35 1 0 TTC34 NA19983 nsv820462 1 2583600 2634182 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420513 M 1 1 0 TTC34 NA10851 nsv160953 1 2583700 2584300 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179531 M 24 TTC34 nsv3323730 1 2583725 2583804 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477292 M 14 0 1 TTC34 HX1 nsv1076882 1 2583790 2629372 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764396 M 1 0 1 TTC34 KWP1 dgv1e215 1 2583806 2627977 CNV deletion Boomsma_et_al_2014 23714750 Sequencing esv3561204,esv3561093 M 767 0 2 TTC34 dgv17n106 1 2583869 2626376 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1120226,nsv1108895,nsv1130627 M 2 0 2 TTC34 KWS1,KWS2 nsv160689 1 2583932 2584533 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179267 M 24 TTC34 nsv6042437 1 2583979 2583979 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529059 M 405 1 0 TTC34 nsv3323429 1 2584005 2584005 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481657 M 14 1 0 TTC34 HX1 esv999533 1 2584227 2585069 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3568762 M 3 0 1 TTC34 HuRef nsv159794 1 2584646 2586332 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178372 M 24 TTC34 nsv1116582 1 2584706 2585081 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962907,nssv3983622 M 2 2 0 TTC34 KWS1,KWS2 nsv5609657 1 2584858 2584858 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064319 M 35 1 0 TTC34 NA19239 nsv159997 1 2584875 2585035 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178575 M 24 TTC34 nsv5579610 1 2584960 2585240 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064320 M 35 0 1 TTC34 HG00096 nsv6046675 1 2585064 2585064 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531266 M 405 1 0 TTC34 nsv1137717 1 2585064 2586308 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990218 M 2 0 1 TTC34 KWS2 nsv5983698 1 2585072 2586387 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533466 M 405 0 1 TTC34 nsv4764261 1 2585074 2585074 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16258958 M 25 1 0 TTC34 nsv5606278 1 2585094 2585094 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064321 M 35 1 0 TTC34 NA19239 nsv3323231 1 2585109 2585109 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481535 M 14 1 0 TTC34 HG00514 nsv3323232 1 2585125 2585125 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481998,nssv14478135 M 14 2 0 TTC34 HG02059,HG04217 nsv5983699 1 2585135 2585254 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533219 M 405 0 1 TTC34 nsv3324124 1 2585136 2585136 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479459 M 14 1 0 TTC34 HG00514 nsv160053 1 2585307 2585307 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178631 M 24 TTC34 nsv3323233 1 2585328 2585328 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491994 M 14 1 0 TTC34 HG00514 nsv5617976 1 2585439 2585439 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064322 M 35 1 0 TTC34 NA18534 dgv4e199 1 2585445 2587423 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2668155,esv2657692 M 1151 0 2 TTC34 NA18616,NA19223 nsv1142047 1 2585469 2585549 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987941,nssv3978764 M 2 2 0 TTC34 KWS1,KWS2 nsv3323234 1 2585512 2585631 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484249 M 14 0 1 TTC34 HG00514 esv8624 1 2585635 2629436 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31065 M 1 0 0 TTC34 nsv5617906 1 2585695 2585695 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064323 M 35 1 0 TTC34 NA18534 nsv5983700 1 2585753 2585875 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527057 M 405 0 1 TTC34 nsv1133124 1 2585811 2590064 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987942 M 2 1 0 TTC34 KWS1 nsv5609607 1 2585858 2585858 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064324 M 35 1 0 TTC34 NA18534 nsv3535014 1 2586038 2586038 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440847 M 9 1 0 TTC34 HG00733 nsv3323235 1 2586087 2586405 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480922 M 14 0 1 TTC34 HX1 nsv3323236 1 2586111 2586231 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14799268 M 14 0 1 TTC34 HG00514 dgv5e199 1 2586186 2616318 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2662334,esv2674419,esv2659426 M 1151 0 8 TTC34 HG00635,HG01516,NA12399,NA18943,NA18982,NA19085,NA19756,NA19780 nsv545086 1 2586303 2613462 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708754 M 17421 0 1 TTC34 dgv51n54 1 2586303 2627467 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545090,nsv545088,nsv545089,nsv545087,nsv545091 M 17421 0 5 TTC34 nsv3323731 1 2586409 2586409 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480970 M 14 1 0 TTC34 HG00514 nsv5580519 1 2586437 2586716 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064325 M 35 0 1 TTC34 NA19238 nsv3324125 1 2586438 2586717 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489498,nssv14474042 M 14 0 2 TTC34 CHM13,NA12878 nsv3323732 1 2586444 2586444 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484864 M 14 1 0 TTC34 HG00514 nsv2802069 1 2586476 2586755 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13693596 M 2 0 1 TTC34 nsv3324126 1 2586552 2586552 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475675 M 14 1 0 TTC34 HG00514 nsv5604633 1 2586576 2586576 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064326 M 35 1 0 TTC34 NA19650 nsv4743783 1 2586607 2586869 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278977 M 25 0 1 TTC34 nsv3323237 1 2586608 2586608 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488180 M 14 1 0 TTC34 HG00514 nsv5983485 1 2586640 2586892 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520476 M 405 0 1 TTC34 nsv3323430 1 2586688 2586966 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484344,nssv14478013 M 14 0 2 TTC34 CHM13,NA12878 nsv5617347 1 2586697 2586697 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064327 M 35 1 0 TTC34 HG00171 nsv3324127 1 2586710 2586831 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477715 M 14 0 1 TTC34 HG00514 nsv3531089 1 2586730 2586730 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440848 M 9 1 0 TTC34 HG00733 nsv3323431 1 2586871 2586871 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487641 M 14 1 0 TTC34 HG02059 nsv3323238 1 2586895 2586895 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490204 M 14 1 0 TTC34 HG00514 nsv5565381 1 2586961 2593262 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064328 M 35 0 1 TTC34 NA20847 nsv3324128 1 2586974 2587214 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476646 M 14 0 1 TTC34 HX1 nsv3323432 1 2586975 2587054 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484300 M 14 0 1 TTC34 HG02059 nsv5607873 1 2587011 2587011 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064329 M 35 1 0 TTC34 NA18534 nsv2801804 1 2587140 2587140 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684721 M 2 1 0 TTC34 nsv3323239 1 2587172 2587172 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482070,nssv14488233,nssv14478959 M 14 3 0 TTC34 HG00514,HG02059,HG04217 nsv3323240 1 2587293 2587293 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488808 M 14 1 0 TTC34 HG00514 nsv5422706 1 2587439 2614439 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901664 M 3202 0 0 TTC34 nsv3323733 1 2587514 2587514 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488273 M 14 1 0 TTC34 HG02059 nsv3323734 1 2587558 2587558 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473347 M 14 1 0 TTC34 HG02059 nsv3323241 1 2587574 2587574 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480499 M 14 1 0 TTC34 HG00514 nsv3324129 1 2587650 2587772 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488957,nssv14487304,nssv14486425 M 14 0 3 TTC34 HG00514,HG02059,NA19434 nsv5983486 1 2587654 2587772 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521330 M 405 0 1 TTC34 esv1995006 1 2587683 2609385 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4845344 M 1 0 1 TTC34 NA18507 nsv5604594 1 2587710 2587710 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064330 M 35 1 0 TTC34 HG00732 nsv3324130 1 2587775 2587775 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486550 M 14 1 0 TTC34 HG00514 esv999575 1 2587780 2620255 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3575600 M 3 0 1 TTC34 HuRef nsv5983701 1 2587786 2587857 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536341 M 405 0 1 TTC34 nsv1122283 1 2587800 2587880 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969735 M 2 0 1 TTC34 KWS2 nsv5612825 1 2587802 2587802 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064331 M 35 1 0 TTC34 HG02011 nsv5983702 1 2587868 2587995 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522852 M 405 0 1 TTC34 nsv5623838 1 2587923 2587923 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064332 M 35 1 0 TTC34 HG00731 nsv5612057 1 2587977 2587977 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064333 M 35 1 0 TTC34 NA18939 nsv3323735 1 2587983 2588143 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481447 M 14 0 1 TTC34 HX1 nsv3323433 1 2588003 2588003 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486352,nssv14476253,nssv14481000,nssv14488070,nssv14472946,nssv14480990 M 14 6 0 TTC34 CHM1,CHM13,HG02059,HG02818,HG04217,NA12878 nsv5608464 1 2588010 2588010 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064334 M 35 1 0 TTC34 HG00096 nsv3935073 1 2588011 2588011 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15194699 M 1 1 0 TTC34 HG002 nsv5614974 1 2588080 2588080 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064335 M 35 1 0 TTC34 HG03371 nsv3323242 1 2588086 2588086 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490635 M 14 1 0 TTC34 CHM1 nsv5611650 1 2588112 2588112 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064336 M 35 1 0 TTC34 HG03732 nsv3323434 1 2588392 2588512 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490402,nssv14475597,nssv14489628 M 14 0 3 TTC34 CHM13,HG02818,HX1 nsv3324131 1 2588610 2588610 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478454 M 14 1 0 TTC34 HG02818 nsv5604932 1 2588721 2588721 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064337 M 35 1 0 TTC34 HG03732 nsv3323736 1 2588762 2589000 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491363,nssv14473154,nssv14472361,nssv14488465 M 14 0 4 TTC34 CHM13,HG01352,HG02059,HX1 nsv3323737 1 2588818 2588897 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478846 M 14 0 1 TTC34 CHM1 nsv5983615 1 2588834 2588916 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528143 M 405 0 1 TTC34 nsv3323738 1 2589001 2589080 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485499,nssv14487194 M 14 0 2 TTC34 CHM13,HG02818 nsv5606682 1 2589087 2589087 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064338,nssv17064339 M 35 2 0 TTC34 HG03732,NA19983 nsv3323739 1 2589099 2589099 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477406,nssv14486289,nssv14485131 M 14 3 0 TTC34 CHM13,HG02059,HG02818 nsv5613262 1 2589159 2589159 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064340 M 35 1 0 TTC34 HG00731 nsv5620459 1 2589172 2589172 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064341 M 35 1 0 TTC34 HG03732 nsv5853 1 2589270 2614433 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5901,nssv9998 M 9 2 0 TTC34 NA18956,NA19129 nsv3324132 1 2589344 2589344 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484699 M 14 1 0 TTC34 HG02059 nsv5620441 1 2589379 2589379 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064342 M 35 1 0 TTC34 HG03732 nsv3324133 1 2589495 2589694 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486763,nssv14485267 M 14 0 2 TTC34 CHM13,HG01352 nsv3323435 1 2589622 2589702 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489657 M 14 0 1 TTC34 HG02059 nsv6048349 1 2589892 2589892 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525224 M 405 1 0 TTC34 nsv5608377 1 2589899 2589899 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064343 M 35 1 0 TTC34 HG03732 nsv5608340 1 2589926 2589926 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064344 M 35 1 0 TTC34 HG03732 nsv3323243 1 2590087 2590087 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490653 M 14 1 0 TTC34 CHM13 nsv3324134 1 2590125 2590605 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487408 M 14 0 1 TTC34 CHM13 nsv5610535 1 2590138 2590138 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064345 M 35 1 0 TTC34 HG02011 nsv3323244 1 2590145 2590145 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488529 M 14 1 0 TTC34 HG02818 nsv5568945 1 2590147 2590466 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064346 M 35 0 1 TTC34 HG00733 nsv2801805 1 2590222 2590381 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13683194 M 2 0 1 TTC34 nsv3323245 1 2590259 2590259 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487465 M 14 1 0 TTC34 HG02059 nsv3323436 1 2590295 2590414 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482212,nssv14475959,nssv14483161 M 14 0 3 TTC34 CHM1,HG02059,HX1 nsv5566131 1 2590338 2590456 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064347 M 35 0 1 TTC34 HG02818 nsv5983487 1 2590346 2590452 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533321 M 405 0 1 TTC34 nsv5618954 1 2590508 2590508 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064348 M 35 1 0 TTC34 HG02011 nsv5605470 1 2590601 2590601 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064349 M 35 1 0 TTC34 HG03732 nsv3324135 1 2590652 2590652 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476845 M 14 1 0 TTC34 HG02059 nsv5609102 1 2590722 2590722 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064350 M 35 1 0 TTC34 HG00171 nsv3324136 1 2590743 2590743 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477995,nssv14475340 M 14 2 0 TTC34 CHM13,HG02059 nsv5611868 1 2590743 2590743 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064351 M 35 1 0 TTC34 HG02011 nsv5606096 1 2590774 2590774 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064873 M 35 1 0 TTC34 HG03732 nsv3323246 1 2590850 2590850 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481837,nssv14475166,nssv14483376 M 14 3 0 TTC34 CHM1,CHM13,NA19434 nsv5983616 1 2590907 2590988 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531682 M 405 0 1 TTC34 nsv3323740 1 2591051 2591130 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483913 M 14 0 1 TTC34 HG02059 nsv3324138 1 2591192 2591312 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483593 M 14 0 1 TTC34 HG02059 nsv3323741 1 2591496 2591496 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490229 M 14 1 0 TTC34 HG00514 nsv5623878 1 2591607 2591607 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064875 M 35 1 0 TTC34 HG03371 nsv5565723 1 2591788 2592952 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064876 M 35 0 1 TTC34 HG02492 nsv5580299 1 2591797 2591956 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064877 M 35 0 1 TTC34 HG00731 nsv3323247 1 2591916 2592597 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487996 M 14 0 1 TTC34 HG00733 nsv5618520 1 2592017 2592017 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064878 M 35 1 0 TTC34 HG02011 nsv3323742 1 2592070 2592070 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485904 M 14 1 0 TTC34 HG00514 nsv5568869 1 2592077 2592192 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064879 M 35 0 1 TTC34 HG00514 nsv5566307 1 2592135 2592696 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064880 M 35 0 1 TTC34 HG00514 nsv5983617 1 2592135 2592697 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525103 M 405 0 1 TTC34 nsv5983527 1 2592172 2592253 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533609 M 405 0 1 TTC34 nsv5607865 1 2592305 2592305 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064881 M 35 1 0 TTC34 HG00731 nsv3323248 1 2592306 2592306 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489777 M 14 1 0 TTC34 HG00514 nsv5623488 1 2592327 2592327 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064882 M 35 1 0 TTC34 HG03732 nsv3323743 1 2592414 2592414 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482461 M 14 1 0 TTC34 HG00514 nsv5983618 1 2592484 2592601 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531091 M 405 0 1 TTC34 nsv5983619 1 2592650 2594215 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520870 M 405 0 1 TTC34 nsv3323437 1 2592718 2592718 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481964 M 14 1 0 TTC34 HG00514 nsv5609911 1 2592719 2592719 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064883 M 35 1 0 TTC34 HG03371 nsv3323438 1 2592862 2593544 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484657 M 14 0 1 TTC34 CHM1 nsv5606147 1 2593032 2593032 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064884 M 35 1 0 TTC34 HG00096 nsv3541597 1 2593038 2593038 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440849 M 9 1 0 TTC34 HG00733 nsv5613743 1 2593126 2593126 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064885 M 35 1 0 TTC34 HG00731 nsv5606353 1 2593196 2593196 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064886 M 35 1 0 TTC34 HG03125 esv1159004 1 2593247 2593247 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3785302 M 2 1 0 TTC34 HuRef nsv5616141 1 2593279 2593279 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064887 M 35 1 0 TTC34 HG03371 nsv5613126 1 2593398 2593398 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064888 M 35 1 0 TTC34 HG03732 nsv5580781 1 2593428 2593507 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064889 M 35 0 1 TTC34 NA20847 nsv5613234 1 2593560 2593560 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064890 M 35 1 0 TTC34 HG03371 nsv5623539 1 2593705 2593705 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064891 M 35 1 0 TTC34 NA19238 esv1780740 1 2593705 2593786 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4117042 M 2 0 1 TTC34 HuRef nsv5569783 1 2593798 2595120 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064892 M 35 0 1 TTC34 HG00512 esv1286791 1 2593876 2593956 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3745617 M 2 0 1 TTC34 HuRef nsv5608685 1 2593893 2593893 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064893 M 35 1 0 TTC34 HG03125 esv1001627 1 2593895 2594777 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584427 M 3 0 1 TTC34 HuRef nsv5983620 1 2593895 2594778 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522574 M 405 0 1 TTC34 nsv5983704 1 2593897 2594135 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537173 M 405 0 1 TTC34 nsv3323439 1 2593898 2594780 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487393 M 14 0 1 TTC34 CHM1 nsv5614144 1 2593936 2593936 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064894 M 35 1 0 TTC34 HG00171 nsv3323744 1 2594077 2595601 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477525,nssv14481015,nssv14483986 M 14 0 3 TTC34 HG00733,HG04217,NA19240 nsv5612140 1 2594199 2594199 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064895 M 35 1 0 TTC34 HG00864 nsv5619803 1 2594227 2594227 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064896 M 35 1 0 TTC34 NA19983 nsv3324139 1 2594260 2594260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472328,nssv14483883,nssv14472719,nssv14473263,nssv14473227,nssv14479942,nssv14478455 M 14 7 0 TTC34 CHM13,HG00514,HG00733,HG02059,HG04217,NA19240,NA19434 nsv6041162 1 2594276 2594276 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534229 M 405 1 0 TTC34 nsv5983490 1 2594333 2595336 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526993 M 405 0 1 TTC34 nsv5983491 1 2594339 2594475 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529692 M 405 0 1 TTC34 nsv3178968 1 2594455 2594535 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376047 M 9 0 0 TTC34 NA19240 nsv3943207 1 2594466 2594466 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15194731 M 1 1 0 TTC34 HG002 nsv5606772 1 2594466 2594466 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064897 M 35 1 0 TTC34 HG03486 nsv3323249 1 2594467 2594467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485361,nssv14472594,nssv14475780,nssv14481367,nssv14472259,nssv14482533,nssv14485192 M 14 7 0 TTC34 CHM13,HG00514,HG00733,HG02059,HG04217,NA19240,NA19434 nsv5983528 1 2594470 2594590 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535271 M 405 0 1 TTC34 nsv6041882 1 2594473 2594473 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531583 M 405 1 0 TTC34 nsv5620376 1 2594517 2594517 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064899 M 35 1 0 TTC34 NA20509 nsv5577097 1 2594517 2594597 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064898 M 35 0 1 TTC34 NA18939 nsv5604810 1 2594645 2594645 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064900 M 35 1 0 TTC34 NA19238 nsv5610747 1 2594840 2594840 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064901 M 35 1 0 TTC34 HG03371 nsv3324140 1 2594849 2595209 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476322 M 14 0 1 TTC34 CHM1 nsv5622158 1 2594914 2594914 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064902 M 35 1 0 TTC34 HG03371 nsv5983621 1 2594961 2595076 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536750 M 405 0 1 TTC34 nsv5604648 1 2595106 2595106 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064443 M 35 1 0 TTC34 HG00731 nsv5617740 1 2595112 2595112 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064444 M 35 1 0 TTC34 NA19238 nsv3324142 1 2595141 2595221 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491417 M 14 0 1 TTC34 CHM1 nsv5619720 1 2595286 2595286 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064445 M 35 1 0 TTC34 HG03371 nsv5617546 1 2595365 2595365 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064446 M 35 1 0 TTC34 HG00513 nsv3323440 1 2595371 2595371 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481194 M 14 1 0 TTC34 CHM1 nsv3324144 1 2595385 2595464 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484026 M 14 0 1 TTC34 CHM1 esv1366162 1 2595413 2595493 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3788684 M 2 0 1 TTC34 HuRef esv1701153 1 2595518 2595757 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4138724 M 2 0 1 TTC34 HuRef nsv5983492 1 2595521 2595605 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518870 M 405 0 1 TTC34 nsv5621440 1 2595584 2595584 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064448 M 35 1 0 TTC34 HG01596 nsv3323441 1 2595791 2596111 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475200,nssv14490262,nssv14489813 M 14 0 3 TTC34 HG00733,HG04217,NA19240 nsv5983622 1 2595801 2596112 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527814 M 405 0 1 TTC34 nsv5983623 1 2595958 2596038 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536573 M 405 0 1 TTC34 nsv5619128 1 2595980 2595980 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064648 M 35 1 0 TTC34 NA19238 nsv5617926 1 2596071 2596071 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064649 M 35 1 0 TTC34 HG03732 nsv3324145 1 2596077 2596077 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488308 M 14 1 0 TTC34 CHM1 nsv3323251 1 2596111 2596111 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479026 M 14 1 0 TTC34 CHM1 nsv3323252 1 2596112 2596112 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489229 M 14 1 0 TTC34 HG00514 nsv5614492 1 2596183 2596183 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064650 M 35 1 0 TTC34 HG00732 nsv5618928 1 2596212 2596212 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064651 M 35 1 0 TTC34 HG03486 nsv5624087 1 2596240 2596240 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065061 M 35 1 0 TTC34 HG00513 nsv5607655 1 2596321 2596321 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064652 M 35 1 0 TTC34 HG00731 nsv3324146 1 2596347 2596347 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474554 M 14 1 0 TTC34 CHM1 nsv5571916 1 2596358 2596761 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064653 M 35 0 1 TTC34 HG00512 nsv5612791 1 2596403 2596403 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064654 M 35 1 0 TTC34 NA18534 nsv3323253 1 2596464 2596623 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485727 M 14 0 1 TTC34 CHM1 nsv3323442 1 2596585 2597107 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474533 M 14 0 1 TTC34 HG00514 nsv3324147 1 2596646 2596766 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479275 M 14 0 1 TTC34 CHM1 nsv3323254 1 2596734 2596814 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475255 M 14 0 1 TTC34 NA19434 nsv3931981 1 2596751 2597313 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15176421 M 1 0 1 TTC34 HG002 nsv5983494 1 2596751 2597313 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523105 M 405 0 1 TTC34 esv990905 1 2596753 2606586 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3573398 M 3 0 1 TTC34 HuRef nsv3323255 1 2596759 2596960 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473792 M 14 0 1 TTC34 HG00733 nsv3939428 1 2596788 2596869 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15176383 M 1 0 1 TTC34 HG002 nsv3323443 1 2596791 2596791 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477963 M 14 1 0 TTC34 CHM1 nsv3323444 1 2596823 2596823 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485595 M 14 1 0 TTC34 NA19240 esv1348726 1 2596826 2596826 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4133439 M 2 1 0 TTC34 HuRef nsv3323256 1 2596846 2596846 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473248 M 14 1 0 TTC34 NA19240 nsv3323257 1 2596862 2597382 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476061 M 14 0 1 TTC34 NA19434 nsv5983530 1 2596864 2599071 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526523 M 405 0 1 TTC34 nsv3323445 1 2596869 2597029 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488552 M 14 0 1 TTC34 HG04217 esv992616 1 2596961 2601374 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3581681 M 3 0 1 TTC34 HuRef nsv5606305 1 2597035 2597035 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064655 M 35 1 0 TTC34 HG03125 nsv3323446 1 2597048 2597048 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477630 M 14 1 0 TTC34 HG00514 nsv5607052 1 2597048 2597048 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064656 M 35 1 0 TTC34 HG03371 nsv3324148 1 2597211 2597211 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473288 M 14 1 0 TTC34 HG00514 nsv3323258 1 2597234 2597234 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479872 M 14 1 0 TTC34 HG00514 nsv3324149 1 2597235 2597475 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476286,nssv14479263 M 14 0 2 TTC34 HG00733,HG04217 nsv3323746 1 2597328 2597328 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483463 M 14 1 0 TTC34 HG00514 nsv5615555 1 2597329 2597329 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064657 M 35 1 0 TTC34 HG03371 nsv5610875 1 2597333 2597333 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064658 M 35 1 0 TTC34 NA20509 nsv5608893 1 2597381 2597381 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064659 M 35 1 0 TTC34 HG00731 esv1068112 1 2597548 2597548 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3882975 M 2 1 0 TTC34 HuRef nsv3323447 1 2597669 2598151 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479671,nssv14486667 M 14 0 2 TTC34 HG00733,HG04217 nsv3323448 1 2597685 2597806 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479897 M 14 0 1 TTC34 CHM1 nsv5617800 1 2597690 2597690 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064660 M 35 1 0 TTC34 HG00731 nsv3324150 1 2597850 2602466 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474349 M 14 0 1 TTC34 HG02059 nsv3323449 1 2598024 2598104 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482714 M 14 0 1 TTC34 CHM1 nsv5567146 1 2598253 2599458 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064661 M 35 0 1 TTC34 HG00512 nsv5615745 1 2598311 2598311 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064662 M 35 1 0 TTC34 HG00171 esv1134902 1 2598419 2598499 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3644540 M 2 0 1 TTC34 HuRef nsv5983624 1 2598493 2598570 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533461 M 405 0 1 TTC34 nsv3324151 1 2598514 2599396 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480605,nssv14484739,nssv14485296 M 14 0 3 TTC34 CHM1,HG00733,HG04217 nsv3927221 1 2598555 2598555 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15184070 M 1 1 0 TTC34 HG002 nsv5619205 1 2598571 2598571 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064352 M 35 1 0 TTC34 HG00731 nsv3928957 1 2598573 2598573 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15184071 M 1 1 0 TTC34 HG002 nsv5624506 1 2598573 2598573 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064353 M 35 1 0 TTC34 HG03486 nsv5983531 1 2598622 2598737 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534778 M 405 0 1 TTC34 nsv5983532 1 2598631 2598868 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531576 M 405 0 1 TTC34 nsv5578893 1 2598633 2598832 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064354 M 35 0 1 TTC34 HG00732 nsv3323450 1 2598693 2600217 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482961,nssv14483641 M 14 0 2 TTC34 CHM13,NA19240 nsv6059794 1 2598790 2598790 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535867 M 405 1 0 TTC34 nsv5610376 1 2598837 2598837 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064355 M 35 1 0 TTC34 NA19983 nsv3323259 1 2598876 2598876 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491706,nssv14479950,nssv14473997,nssv14477273,nssv14486196,nssv14480009 M 14 6 0 TTC34 CHM13,HG00514,HG00733,HG02059,HG04217,NA19434 nsv5617211 1 2598883 2598883 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064356 M 35 1 0 TTC34 HG03125 nsv6045169 1 2598892 2598892 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530539 M 405 1 0 TTC34 nsv3324152 1 2598940 2613039 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14480395,nssv14485078,nssv14485797,nssv14490439,nssv14482433,nssv14484346,nssv14486778 M 14 7 0 TTC34 HG00268,HG00733,HG02059,HG02106,HG02818,HG04217,NA19434 nsv5983533 1 2598950 2599948 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531263 M 405 0 1 TTC34 nsv5614008 1 2599078 2599078 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064357 M 35 1 0 TTC34 HG03125 nsv3943221 1 2599081 2599081 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15184897 M 1 1 0 TTC34 HG002 nsv6051571 1 2599081 2599081 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526984 M 405 1 0 TTC34 nsv3953382 1 2599082 2599082 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15184916 M 1 1 0 TTC34 HG002 nsv5621194 1 2599082 2599082 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064358 M 35 1 0 TTC34 HG03486 nsv3323747 1 2599083 2599083 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482948,nssv14485494,nssv14477520,nssv14475860 M 14 4 0 TTC34 CHM13,HG00514,HG04217,NA19434 nsv3323748 1 2599097 2599217 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472491 M 14 0 1 TTC34 HX1 nsv5615916 1 2599217 2599217 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064359 M 35 1 0 TTC34 HG00731 esv1460747 1 2599458 2599578 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3860280 M 2 0 1 TTC34 HuRef nsv3324153 1 2599498 2600259 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489163 M 14 0 1 TTC34 HG00733 nsv5606207 1 2599529 2599529 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064360 M 35 1 0 TTC34 NA19240 nsv5623801 1 2599722 2599722 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064361 M 35 1 0 TTC34 HG00513 nsv5608797 1 2599902 2599902 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064362 M 35 1 0 TTC34 HG00171 nsv5983534 1 2599974 2600094 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530196 M 405 0 1 TTC34 nsv6043728 1 2599988 2599988 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526448 M 405 1 0 TTC34 nsv2801167 1 2600009 2600009 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687265 M 2 1 0 TTC34 nsv5619383 1 2600080 2600080 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064903 M 35 1 0 TTC34 NA20509 nsv5623046 1 2600116 2600116 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064904 M 35 1 0 TTC34 HG00096 nsv2801903 1 2600129 2600369 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13691442 M 2 0 1 TTC34 nsv3324154 1 2600154 2600634 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481075 M 14 0 1 TTC34 CHM1 esv1312498 1 2600237 2600477 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4349278 M 2 0 1 TTC34 HuRef nsv3323260 1 2600407 2600727 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483519,nssv14483451 M 14 0 2 TTC34 CHM13,HG04217 nsv2802070 1 2600452 2600732 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690972 M 2 0 1 TTC34 nsv5620348 1 2600657 2600657 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064363 M 35 1 0 TTC34 HG00731 nsv5618635 1 2600662 2600662 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064364 M 35 1 0 TTC34 HG02011 nsv3323451 1 2600740 2600740 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474658 M 14 1 0 TTC34 HG04217 nsv5618177 1 2600782 2600782 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064365 M 35 1 0 TTC34 HG02818 nsv5608917 1 2600835 2600835 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064905 M 35 1 0 TTC34 HG00731 nsv3941451 1 2600859 2600859 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15184937 M 1 1 0 TTC34 HG002 nsv5606224 1 2601058 2601058 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064906 M 35 1 0 TTC34 HG00513 nsv5575716 1 2601060 2601140 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064907 M 35 0 1 TTC34 NA19239 nsv3324155 1 2601080 2601239 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483768 M 14 0 1 TTC34 CHM1 nsv5608627 1 2601242 2601242 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064908 M 35 1 0 TTC34 HG02492 nsv3323452 1 2601262 2601382 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477190 M 14 0 1 TTC34 CHM1 nsv5611249 1 2601279 2601279 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064909 M 35 1 0 TTC34 HG00731 nsv5983495 1 2601302 2601383 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520737 M 405 0 1 TTC34 nsv3323749 1 2601331 2601411 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489719 M 14 0 1 TTC34 CHM1 nsv5582725 1 2601367 2601928 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064910 M 35 0 1 TTC34 HG02818 nsv5983705 1 2601367 2601929 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528434 M 405 0 1 TTC34 nsv3323453 1 2601368 2601929 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488172,nssv14486494,nssv14473474,nssv14490755 M 14 0 4 TTC34 HG00514,HG02059,HG04217,NA19434 esv997173 1 2601369 2601930 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566822 M 3 0 1 TTC34 HuRef nsv5983625 1 2601404 2601536 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519554 M 405 0 1 TTC34 nsv3323750 1 2601445 2601647 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483704 M 14 0 1 TTC34 CHM1 nsv3929313 1 2601467 2601467 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15184942 M 1 1 0 TTC34 HG002 nsv3323751 1 2601471 2601471 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484639 M 14 1 0 TTC34 HG04217 nsv5605241 1 2601571 2601571 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064911 M 35 1 0 TTC34 HG00732 nsv5572736 1 2602253 2602494 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064912 M 35 0 1 TTC34 NA20509 nsv3323752 1 2602335 2603019 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483060 M 14 0 1 TTC34 CHM1 nsv5612970 1 2602467 2602467 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064913 M 35 1 0 TTC34 HG02011 esv1162144 1 2602836 2603358 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3966245 M 2 0 1 TTC34 HuRef nsv5623964 1 2602870 2602870 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064914 M 35 1 0 TTC34 HG00513 nsv5580827 1 2603067 2603146 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064915 M 35 0 1 TTC34 HG03125 nsv3323454 1 2603118 2604562 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476805 M 14 0 1 TTC34 CHM1 nsv5983535 1 2603119 2604562 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537206 M 405 0 1 TTC34 nsv3323753 1 2603143 2603622 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488849 M 14 0 1 TTC34 HG04217 nsv5608056 1 2603149 2603149 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064916 M 35 1 0 TTC34 HG00513 nsv3324156 1 2603166 2603266 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486136 M 14 0 1 TTC34 CHM1 nsv5611261 1 2603187 2603187 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064917 M 35 1 0 TTC34 HG00864 nsv5613667 1 2603207 2603207 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064663 M 35 1 0 TTC34 HG00171 nsv3323754 1 2603405 2603464 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486505 M 14 0 1 TTC34 CHM1 nsv3323455 1 2603492 2603572 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487795 M 14 0 1 TTC34 CHM1 nsv5616517 1 2603512 2603512 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064664 M 35 1 0 TTC34 HG00513 nsv5607065 1 2603524 2603524 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064665 M 35 1 0 TTC34 HG00864 nsv3323755 1 2603598 2603598 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14486362 M 14 1 0 TTC34 CHM1 nsv3323456 1 2603747 2603828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477228 M 14 0 1 TTC34 CHM1 nsv5617106 1 2603820 2603820 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064666 M 35 1 0 TTC34 HG00732 nsv3323457 1 2603830 2604029 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486543 M 14 0 1 TTC34 CHM1 nsv5614513 1 2604032 2604032 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064667 M 35 1 0 TTC34 NA19240 nsv5622752 1 2604105 2604105 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064668 M 35 1 0 TTC34 HG00731 nsv3324157 1 2604230 2604390 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476035 M 14 0 1 TTC34 CHM13 nsv3323756 1 2604236 2604236 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477947 M 14 1 0 TTC34 CHM1 nsv5606371 1 2604312 2604312 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064669 M 35 1 0 TTC34 HG02011 nsv3323757 1 2604326 2604326 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476670 M 14 1 0 TTC34 CHM1 nsv5621258 1 2604352 2604352 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064670 M 35 1 0 TTC34 HG01505 nsv3323758 1 2604352 2604432 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490228 M 14 0 1 TTC34 CHM1 esv1394797 1 2604440 2604521 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4279125 M 2 0 1 TTC34 HuRef nsv3324158 1 2604481 2604481 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478058 M 14 1 0 TTC34 CHM1 nsv160294 1 2604481 2609056 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178872 M 24 TTC34 nsv5619926 1 2604517 2604517 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064671 M 35 1 0 TTC34 HG02492 nsv3323458 1 2604552 2604792 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486358,nssv14485018 M 14 0 2 TTC34 CHM1,HG00733 nsv3324159 1 2604563 2604563 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479600 M 14 1 0 TTC34 CHM1 nsv5606296 1 2604571 2604571 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064672 M 35 1 0 TTC34 HG00513 nsv3324160 1 2604639 2604639 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478660 M 14 1 0 TTC34 CHM1 nsv3323261 1 2604695 2605015 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476492,nssv14473507,nssv14475138 M 14 0 3 TTC34 CHM1,CHM13,HG00733 nsv5606287 1 2604900 2604900 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064673 M 35 1 0 TTC34 HG00731 nsv3323759 1 2604935 2605015 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478845 M 14 0 1 TTC34 CHM1 nsv5580094 1 2604940 2605903 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064674 M 35 0 1 TTC34 HG00512 nsv3323530 1 2605004 2605004 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474194 M 14 1 0 TTC34 CHM1 nsv5565412 1 2605028 2605108 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064675 M 35 0 1 TTC34 HG00864 nsv3323760 1 2605179 2605258 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475002 M 14 0 1 TTC34 CHM1 esv1779754 1 2605181 2605181 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3803937 M 2 1 0 TTC34 HuRef nsv5613329 1 2605192 2605192 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064676 M 35 1 0 TTC34 HG00864 nsv5619540 1 2605464 2605464 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064677 M 35 1 0 TTC34 HG00171 nsv3323459 1 2605520 2606562 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487126,nssv14481442,nssv14478779 M 14 0 3 TTC34 CHM1,CHM13,HG00733 nsv3323761 1 2605871 2605871 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474347 M 14 1 0 TTC34 CHM1 nsv5621387 1 2605886 2605886 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064366 M 35 1 0 TTC34 HG03486 nsv3324161 1 2605905 2605905 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491101 M 14 1 0 TTC34 CHM1 nsv3323762 1 2605999 2605999 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475066 M 14 1 0 TTC34 CHM1 nsv3324162 1 2606056 2606056 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14487554 M 14 1 0 TTC34 CHM1 nsv3940488 1 2606129 2606250 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15176485 M 1 0 1 TTC34 HG002 nsv2801168 1 2606132 2606132 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691929 M 2 1 0 TTC34 nsv5983706 1 2606136 2606253 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523785 M 405 0 1 TTC34 nsv3323460 1 2606155 2606155 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485572 M 14 1 0 TTC34 CHM1 nsv5616687 1 2606229 2606229 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064367 M 35 1 0 TTC34 NA24385 nsv3323763 1 2606273 2606352 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479840 M 14 0 1 TTC34 CHM1 nsv3323764 1 2606553 2606553 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475153,nssv14486200,nssv14483351,nssv14486204,nssv14473972 M 14 5 0 TTC34 CHM13,HG00514,HG02059,HG04217,NA19240 nsv3931063 1 2606562 2606562 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15184991 M 1 1 0 TTC34 HG002 nsv5607308 1 2606562 2606562 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064368,nssv17064369 M 35 2 0 TTC34 NA12878,NA19238 nsv6044020 1 2606562 2606562 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521206 M 405 1 0 TTC34 nsv3323765 1 2606635 2606635 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485899 M 14 1 0 TTC34 HG04217 nsv5983626 1 2606685 2606795 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519720 M 405 0 1 TTC34 nsv5983707 1 2606919 2607073 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528619 M 405 0 1 TTC34 nsv3323766 1 2606991 2607675 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486875 M 14 0 1 TTC34 CHM1 nsv5619972 1 2607079 2607079 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064370 M 35 1 0 TTC34 HG00733 nsv3323262 1 2607171 2607171 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484163 M 14 1 0 TTC34 HG04217 nsv5983496 1 2607284 2607399 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532860 M 405 0 1 TTC34 nsv5983708 1 2607748 2607828 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527121 M 405 0 1 TTC34 nsv3323263 1 2607749 2607828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485867 M 14 0 1 TTC34 HG04217 nsv3323461 1 2607766 2607766 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484892 M 14 1 0 TTC34 CHM1 nsv3323767 1 2607797 2607797 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480673 M 14 1 0 TTC34 CHM1 nsv5621497 1 2607805 2607805 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064918 M 35 1 0 TTC34 NA19650 nsv3323768 1 2607822 2607922 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474964 M 14 0 1 TTC34 CHM1 nsv3324163 1 2607843 2607843 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490686 M 14 1 0 TTC34 CHM1 nsv3927695 1 2607868 2607868 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15185014 M 1 1 0 TTC34 HG002 nsv5622165 1 2607948 2607948 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064919 M 35 1 0 TTC34 HG03125 nsv3323462 1 2608061 2608120 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485110 M 14 0 1 TTC34 CHM1 nsv3324164 1 2608148 2608228 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474596 M 14 0 1 TTC34 CHM1 nsv5983709 1 2608164 2608243 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529466 M 405 0 1 TTC34 nsv5604875 1 2608168 2608168 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064920 M 35 1 0 TTC34 NA20847 nsv5622214 1 2608190 2608190 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064921 M 35 1 0 TTC34 HG00513 nsv5983627 1 2608403 2609369 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519499 M 405 0 1 TTC34 nsv5612307 1 2608430 2608430 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064922 M 35 1 0 TTC34 HG03486 nsv5983536 1 2608456 2608654 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525821 M 405 0 1 TTC34 nsv3323463 1 2608486 2608685 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477880 M 14 0 1 TTC34 CHM1 nsv3324165 1 2608527 2608624 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489345 M 14 0 1 TTC34 CHM1 nsv6044496 1 2608685 2608685 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529076 M 405 1 0 TTC34 nsv5609972 1 2608686 2608686 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064923 M 35 1 0 TTC34 HG00513 nsv3323264 1 2608737 2609539 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489621 M 14 0 1 TTC34 HG00733 nsv3324166 1 2608759 2608921 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486074 M 14 0 1 TTC34 CHM1 nsv5607091 1 2608811 2608811 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064924 M 35 1 0 TTC34 NA18939 nsv3323464 1 2608892 2608892 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482204 M 14 1 0 TTC34 CHM1 nsv3323769 1 2609008 2609088 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491506 M 14 0 1 TTC34 CHM1 nsv5604606 1 2609086 2609086 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064925 M 35 1 0 TTC34 NA24385 nsv3323265 1 2609137 2609137 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488358 M 14 1 0 TTC34 CHM1 esv2672332 1 2609210 2626391 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5828566,essv5654815 M 1151 0 2 TTC34 HG00313,NA19380 nsv5983710 1 2609214 2609293 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521167 M 405 0 1 TTC34 nsv3323465 1 2609228 2609468 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14808469 M 14 0 1 TTC34 CHM1 nsv5983628 1 2609228 2609775 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522982 M 405 0 1 TTC34 nsv3323466 1 2609229 2609789 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489242,nssv14475196 M 14 0 2 TTC34 CHM1,HG00733 nsv6048125 1 2609338 2609338 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523382 M 405 1 0 TTC34 nsv2801904 1 2609339 2609820 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13683588 M 2 0 1 TTC34 nsv3926160 1 2609358 2609358 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15185037 M 1 1 0 TTC34 HG002 nsv5620399 1 2609358 2609358 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064926 M 35 1 0 TTC34 NA19238 nsv3324167 1 2609359 2609359 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477097,nssv14483173,nssv14475993,nssv14491263 M 14 4 0 TTC34 CHM13,HG00514,HG04217,NA19434 nsv6044080 1 2609402 2609402 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534013 M 405 1 0 TTC34 nsv5983711 1 2609443 2609513 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521195 M 405 0 1 TTC34 nsv3324168 1 2609525 2609805 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479347 M 14 0 1 TTC34 CHM1 nsv6044004 1 2609698 2609698 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527518 M 405 1 0 TTC34 nsv5624446 1 2609706 2609706 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064927 M 35 1 0 TTC34 HG00732 esv993173 1 2609759 2610320 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584575 M 3 0 1 TTC34 HuRef nsv6052765 1 2609806 2609806 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529510 M 405 1 0 TTC34 nsv3323266 1 2609835 2610037 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476510 M 14 0 1 TTC34 CHM1 nsv3323467 1 2609855 2609936 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473768,nssv14490226 M 14 0 2 TTC34 HG02059,NA19434 nsv5983497 1 2609867 2609947 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525301 M 405 0 1 TTC34 nsv5616091 1 2609870 2609870 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064928 M 35 1 0 TTC34 HG03486 nsv3324169 1 2609873 2609873 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489661 M 14 1 0 TTC34 HG04217 nsv5616592 1 2610213 2610213 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064449 M 35 1 0 TTC34 HG03486 nsv3323468 1 2610492 2611013 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487307,nssv14483860 M 14 0 2 TTC34 HG04217,NA19240 nsv159383 1 2610568 2616269 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177961 M 24 TTC34 nsv5611073 1 2610674 2610674 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064450 M 35 1 0 TTC34 HG00732 nsv3323469 1 2610725 2611409 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485618 M 14 0 1 TTC34 CHM1 nsv5608686 1 2610809 2610809 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064451 M 35 1 0 TTC34 HG03486 nsv5611983 1 2610872 2610872 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064452 M 35 1 0 TTC34 HG00513 nsv5570466 1 2611055 2611136 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064453 M 35 0 1 TTC34 NA24385 nsv3323770 1 2611133 2611942 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488444,nssv14486153,nssv14474861 M 14 0 3 TTC34 HG00733,HG04217,NA19240 esv989273 1 2611513 2614402 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3575900 M 3 0 1 TTC34 HuRef nsv3323771 1 2611556 2611656 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478111 M 14 0 1 TTC34 CHM1 nsv5578860 1 2611569 2611968 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064454 M 35 0 1 TTC34 HG00512 nsv5623052 1 2611620 2611620 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064456 M 35 1 0 TTC34 HG03732 nsv5579335 1 2611620 2611780 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064455 M 35 0 1 TTC34 NA24385 nsv3323772 1 2611654 2613061 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480532,nssv14484141 M 14 0 2 TTC34 CHM1,HG02059 nsv5617982 1 2611772 2611772 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064457 M 35 1 0 TTC34 NA19240 nsv3324170 1 2611882 2611962 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488705 M 14 0 1 TTC34 CHM1 nsv3324171 1 2612137 2612218 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480722 M 14 0 1 TTC34 CHM1 nsv5567866 1 2612190 2612389 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064459 M 35 0 1 TTC34 HG00512 nsv3323773 1 2612220 2612419 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479072 M 14 0 1 TTC34 CHM1 nsv5582688 1 2612233 2612311 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064460 M 35 0 1 TTC34 HG03065 nsv3323267 1 2612574 2612574 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486726 M 14 1 0 TTC34 NA19240 nsv3323774 1 2612620 2612620 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473360 M 14 1 0 TTC34 CHM1 nsv5606777 1 2612653 2612653 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064461 M 35 1 0 TTC34 NA20509 nsv3323470 1 2612684 2612844 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481638,nssv14487576 M 14 0 2 TTC34 HG04217,NA19434 nsv5618163 1 2612817 2612817 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064462 M 35 1 0 TTC34 HG00732 nsv3323775 1 2612877 2612877 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473886,nssv14475915 M 14 2 0 TTC34 CHM1,NA19240 nsv5574163 1 2612960 2613039 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064463 M 35 0 1 TTC34 HG00512 nsv5619992 1 2613045 2613045 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064464 M 35 1 0 TTC34 HG00513 nsv3323269 1 2613308 2613308 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482432,nssv14487467,nssv14478249,nssv14489144 M 14 4 0 TTC34 HG00268,HG00514,HG04217,NA19434 nsv3323776 1 2613418 2613498 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483978 M 14 0 1 TTC34 CHM1 nsv3323270 1 2613452 2613452 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489833,nssv14489228,nssv14482192,nssv14490379,nssv14473943 M 14 5 0 TTC34 HG00268,HG00514,HG02059,HG04217,NA19434 nsv3323777 1 2613486 2613486 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483133,nssv14488657,nssv14487650,nssv14486980 M 14 4 0 TTC34 HG00268,HG00514,HG02059,HG04217 nsv3324173 1 2613546 2613546 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482060 M 14 1 0 TTC34 HG00514 nsv3323271 1 2613548 2613548 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472575 M 14 1 0 TTC34 NA19240 nsv3323471 1 2613582 2613663 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473262,nssv14477144,nssv14485396 M 14 0 3 TTC34 HG00514,HG00733,NA19434 nsv5983539 1 2613599 2613679 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523475 M 405 0 1 TTC34 nsv6059988 1 2613601 2613601 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520309 M 405 1 0 TTC34 nsv3324174 1 2613724 2614366 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473122 M 14 0 1 TTC34 CHM1 nsv3323472 1 2613732 2613811 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474339,nssv14472640,nssv14479569 M 14 0 3 TTC34 HG00514,HG00733,NA19434 nsv5607328 1 2613737 2613737 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064470 M 35 1 0 TTC34 HG00513 nsv5623451 1 2613868 2613868 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064471 M 35 1 0 TTC34 HG03486 nsv3323473 1 2613871 2614033 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483646 M 14 0 1 TTC34 HG00733 nsv5426894 1 2613989 2630439 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901665 M 3202 0 0 TTC34 nsv3323272 1 2614089 2614249 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480909,nssv14486072 M 14 0 2 TTC34 HG00733,HG02059 nsv5577062 1 2614108 2614187 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064472 M 35 0 1 TTC34 HG03125 nsv3323273 1 2614148 2614148 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488252 M 14 1 0 TTC34 HG04217 nsv5612937 1 2614171 2614171 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064473 M 35 1 0 TTC34 HG03486 nsv5614109 1 2614261 2614261 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064371 M 35 1 0 TTC34 NA12329 nsv6049034 1 2614261 2614261 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518786 M 405 1 0 TTC34 nsv3323274 1 2614379 2614538 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479424,nssv14490060,nssv14477901,nssv14487680 M 14 0 4 TTC34 CHM13,HG00514,HG00733,NA19434 nsv5610610 1 2614464 2614464 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064372 M 35 1 0 TTC34 HG00732 nsv6323956 1 2614503 2615588 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203485 M 19652 1 0 TTC34 nsv545092 1 2614568 2633298 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708760 M 17421 1 0 TTC34 nsv5584456 1 2614577 2614696 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064373 M 35 0 1 TTC34 HG00512 nsv5983540 1 2614616 2614695 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536877 M 405 0 1 TTC34 nsv3323474 1 2614666 2614788 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487170 M 14 0 1 TTC34 NA19434 nsv5983716 1 2614676 2614811 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523824 M 405 0 1 TTC34 nsv3323475 1 2614788 2614868 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482846 M 14 0 1 TTC34 HG00733 nsv5619608 1 2614824 2614824 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064374 M 35 1 0 TTC34 HG03371 nsv3951817 1 2614849 2614849 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15185091 M 1 1 0 TTC34 HG002 nsv6052898 1 2614849 2614849 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528554 M 405 1 0 TTC34 nsv3323778 1 2614850 2614850 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491056 M 14 1 0 TTC34 HG00514 nsv3324175 1 2614887 2614887 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475431 M 14 1 0 TTC34 HG00514 nsv5606448 1 2614942 2614942 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064929 M 35 1 0 TTC34 HG00513 nsv3323275 1 2614954 2615026 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473994 M 14 0 1 TTC34 HG00733 nsv3323779 1 2615032 2615032 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477624 M 14 1 0 TTC34 HG00514 nsv3939035 1 2615057 2615057 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15185092 M 1 1 0 TTC34 HG002 nsv3324176 1 2615072 2615072 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14481210 M 14 1 0 TTC34 HG00514 nsv3324177 1 2615096 2615096 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479051,nssv14487944,nssv14476142 M 14 3 0 TTC34 HG00268,HG00514,HG02059 nsv3323780 1 2615100 2615180 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476291 M 14 0 1 TTC34 CHM1 dgv44n152 1 2615114 2619007 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3191681,nsv3196761 M 9 0 4 TTC34 HG00514,HG00732,HG00733,NA19238 nsv3323276 1 2615150 2615150 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489954 M 14 1 0 TTC34 HG00514 nsv3323781 1 2615211 2615211 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489993,nssv14478641,nssv14475124 M 14 3 0 TTC34 CHM1,HG00514,HG02818 nsv3324178 1 2615256 2615256 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481536,nssv14475962,nssv14479150,nssv14475403 M 14 4 0 TTC34 CHM1,HG00268,HG02059,HG02818 nsv6059556 1 2615374 2615374 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521439 M 405 1 0 TTC34 nsv5613060 1 2615435 2615435 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064930 M 35 1 0 TTC34 HG03486 esv6961 1 2615507 2629275 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29402 M 1 0 0 TTC34 nsv3323782 1 2615555 2615555 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491369,nssv14489770,nssv14472080 M 14 3 0 TTC34 HG00514,HG02059,NA19434 nsv3323476 1 2615577 2615577 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491476 M 14 1 0 TTC34 HG00514 nsv3323783 1 2615636 2615636 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479494,nssv14477055 M 14 2 0 TTC34 HG00514,NA19434 nsv5983541 1 2615673 2615774 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530862 M 405 0 1 TTC34 nsv3323477 1 2615721 2615721 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480577 M 14 1 0 TTC34 HG00514 nsv3323478 1 2615750 2615870 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482334 M 14 0 1 TTC34 CHM1 nsv3323277 1 2615755 2616195 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474437,nssv14472034,nssv14485780,nssv14476055 M 14 0 4 TTC34 HG00268,HG00514,HG02818,HG04217 nsv3323278 1 2615777 2615777 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475924 M 14 1 0 TTC34 HG00514 nsv3323479 1 2615822 2615822 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487298 M 14 1 0 TTC34 HG00514 nsv3323279 1 2615825 2615946 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478637 M 14 0 1 TTC34 NA19434 nsv5613816 1 2615856 2615856 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064931 M 35 1 0 TTC34 HG00513 nsv3324179 1 2615912 2616031 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482590,nssv14490543 M 14 0 2 TTC34 CHM1,HG02059 nsv5605373 1 2615949 2615949 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064932 M 35 1 0 TTC34 HG03486 nsv3323480 1 2615988 2616066 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491515,nssv14489555,nssv14486929 M 14 0 3 TTC34 HG00514,HG04217,NA19434 nsv3323784 1 2616057 2616258 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478538 M 14 0 1 TTC34 HG00733 nsv3323531 1 2616106 2616106 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480502 M 14 1 0 TTC34 CHM1 nsv5983733 1 2616146 2616464 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518871 M 405 0 1 TTC34 nsv3323785 1 2616182 2616182 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488508,nssv14490842,nssv14482076 M 14 3 0 TTC34 HG00514,HG04217,NA19434 nsv3323532 1 2616184 2616184 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475534 M 14 1 0 TTC34 CHM1 nsv3323481 1 2616269 2616269 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484862 M 14 1 0 TTC34 HG00514 nsv3323786 1 2616315 2616315 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473485,nssv14480440,nssv14486552 M 14 3 0 TTC34 HG00514,HG04217,NA19434 nsv5624245 1 2616316 2616316 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064933 M 35 1 0 TTC34 HG00513 nsv3323826 1 2616323 2616323 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477170 M 14 1 0 TTC34 CHM1 nsv3323280 1 2616351 2616431 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488453 M 14 0 1 TTC34 CHM13 nsv159584 1 2616455 2616815 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178162 M 24 TTC34 nsv3323281 1 2616503 2616503 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486363,nssv14482945 M 14 2 0 TTC34 HG00514,NA19434 nsv3323787 1 2616537 2616537 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482251,nssv14487580 M 14 2 0 TTC34 HG00514,NA19434 nsv3323482 1 2616603 2616603 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480089,nssv14487432 M 14 2 0 TTC34 HG00514,NA19434 nsv5619259 1 2616620 2616620 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064934 M 35 1 0 TTC34 HG00513 nsv3323282 1 2616657 2616657 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486512 M 14 1 0 TTC34 HG02818 nsv3323483 1 2616658 2616658 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472129,nssv14490014 M 14 2 0 TTC34 HG00514,NA19434 nsv3323484 1 2616660 2616820 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491723 M 14 0 1 TTC34 HG02059 nsv3324180 1 2616709 2617109 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482679 M 14 0 1 TTC34 CHM13 nsv6964 1 2616765 2618184 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6711 M 9 1 0 TTC34 NA12156 nsv3324181 1 2616877 2616877 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489756,nssv14483605 M 14 2 0 TTC34 HG00514,NA19434 nsv3324182 1 2616921 2617080 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479919,nssv14472409,nssv14490707 M 14 0 3 TTC34 HG02818,HG04217,NA19434 nsv5606671 1 2617017 2617017 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064935 M 35 1 0 TTC34 HG00513 nsv5570047 1 2617067 2617146 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064936 M 35 0 1 TTC34 NA20847 nsv3323485 1 2617078 2617078 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475747,nssv14476747 M 14 2 0 TTC34 HG00514,HG04217 nsv3324183 1 2617126 2617126 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491948,nssv14480475 M 14 2 0 TTC34 HG00514,HG04217 nsv5621199 1 2617132 2617132 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064474 M 35 1 0 TTC34 HG03125 nsv3323486 1 2617213 2617213 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473829,nssv14481228 M 14 2 0 TTC34 HG00514,HG04217 nsv3324184 1 2617335 2617413 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477056 M 14 0 1 TTC34 NA19434 nsv3323487 1 2617392 2617392 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491664,nssv14479732,nssv14474722 M 14 3 0 TTC34 HG00514,HG02818,NA19434 nsv3323488 1 2617452 2617452 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472596,nssv14477706,nssv14490367,nssv14482883 M 14 4 0 TTC34 CHM13,HG02059,HG02818,NA19434 nsv3323283 1 2617505 2617623 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477326 M 14 0 1 TTC34 NA19434 nsv3323284 1 2617515 2617565 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476762 M 14 0 1 TTC34 HG02818 nsv3323489 1 2617639 2617639 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486182,nssv14491238,nssv14482468 M 14 3 0 TTC34 HG00514,HG02059,HG04217 nsv3323285 1 2617677 2617836 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478278 M 14 0 1 TTC34 NA19434 nsv3323788 1 2617708 2617708 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481610 M 14 1 0 TTC34 HG02059 nsv3323789 1 2617822 2617822 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481611,nssv14486770,nssv14491447,nssv14482947 M 14 4 0 TTC34 HG00514,HG02059,HG02818,HG04217 nsv3324185 1 2617897 2617897 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473200 M 14 1 0 TTC34 HG02818 nsv160877 1 2617977 2623639 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179455 M 24 TTC34 nsv3323490 1 2617980 2617980 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488607 M 14 1 0 TTC34 HG02818 nsv3323491 1 2618005 2618005 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472307 M 14 1 0 TTC34 HG00514 nsv3323492 1 2618078 2618078 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485601 M 14 1 0 TTC34 HG00514 nsv3323790 1 2618122 2618122 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478896 M 14 1 0 TTC34 HG02059 nsv3324186 1 2618192 2618192 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481592 M 14 1 0 TTC34 HG02818 nsv3324187 1 2618220 2618220 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472510 M 14 1 0 TTC34 HG00514 nsv5621654 1 2618275 2618275 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064475 M 35 1 0 TTC34 HG03125 nsv3323493 1 2618420 2618660 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476240 M 14 0 1 TTC34 HG00733 nsv3323791 1 2618443 2618443 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476215 M 14 1 0 TTC34 HG00514 nsv7534 1 2618520 2621299 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4235 M 9 1 0 TTC34 NA12878 nsv5614327 1 2618587 2618587 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064476 M 35 1 0 TTC34 HG00513 nsv5620069 1 2618600 2618600 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064477 M 35 1 0 TTC34 HG03125 nsv3324188 1 2618742 2618742 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485193 M 14 1 0 TTC34 HG00514 esv2663943 1 2618820 2626257 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6025078 M 1151 0 1 TTC34 NA18486 nsv5983502 1 2618910 2619030 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532427 M 405 0 1 TTC34 nsv3323494 1 2618925 2618925 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480218 M 14 1 0 TTC34 HG00514 nsv3323286 1 2618984 2618984 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480877,nssv14472698 M 14 2 0 TTC34 HG00514,HG02818 nsv5983631 1 2618989 2619075 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532418 M 405 0 1 TTC34 nsv3323495 1 2619053 2619133 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477487,nssv14489969 M 14 0 2 TTC34 HG04217,NA19434 nsv3323287 1 2619110 2619110 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479280 M 14 1 0 TTC34 HG00514 nsv5616832 1 2619147 2619147 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064478 M 35 1 0 TTC34 HG00513 nsv3324189 1 2619177 2619496 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481669 M 14 0 1 TTC34 HG02818 nsv3324190 1 2619264 2619264 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476757 M 14 1 0 TTC34 HG02059 nsv3324191 1 2619271 2619271 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474850,nssv14482791 M 14 2 0 TTC34 HG00514,HG02059 nsv5614801 1 2619324 2619324 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064479 M 35 1 0 TTC34 HG00732 nsv3323792 1 2619335 2619335 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488171 M 14 1 0 TTC34 HG00514 nsv3323793 1 2619374 2619454 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486282,nssv14472251 M 14 0 2 TTC34 HG00514,HG02818 nsv3323288 1 2619461 2619541 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491850 M 14 0 1 TTC34 HG00733 nsv3324192 1 2619527 2619527 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481625 M 14 1 0 TTC34 HG00514 nsv3323496 1 2619541 2619622 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481652 M 14 0 1 TTC34 HG02059 nsv3323289 1 2619554 2619554 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14477019 M 14 1 0 TTC34 NA19434 nsv5605158 1 2619573 2619573 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064480 M 35 1 0 TTC34 HG00513 nsv3323794 1 2619622 2619622 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483164 M 14 1 0 TTC34 HG02818 nsv3323497 1 2619759 2619759 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479440 M 14 1 0 TTC34 HG00514 nsv3323498 1 2619809 2619809 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477993,nssv14491054,nssv14483607,nssv14478235 M 14 4 0 TTC34 HG00268,HG00514,HG04217,NA19434 nsv6046454 1 2619826 2619826 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519298 M 405 1 0 TTC34 nsv3323290 1 2619873 2619993 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481020 M 14 0 1 TTC34 HG02818 nsv5570252 1 2619891 2620091 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064481 M 35 0 1 TTC34 NA19239 nsv3323795 1 2619892 2620214 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481035 M 14 0 1 TTC34 HG00733 nsv3323499 1 2619972 2620093 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14810091 M 14 0 1 TTC34 HG04217 nsv3323291 1 2620067 2620067 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486377 M 14 1 0 TTC34 HG02059 nsv3324193 1 2620078 2620078 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472859,nssv14475987,nssv14477857,nssv14474270 M 14 4 0 TTC34 HG00268,HG00514,HG04217,NA19434 nsv3323796 1 2620109 2620109 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480103 M 14 1 0 TTC34 HG00514 nsv3323797 1 2620120 2620482 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485739 M 14 0 1 TTC34 HG02818 nsv3324194 1 2620192 2620192 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484323,nssv14477198,nssv14483946,nssv14480561 M 14 4 0 TTC34 HG00268,HG00514,HG04217,NA19434 nsv3323798 1 2620229 2620229 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475998,nssv14472203 M 14 2 0 TTC34 HG00514,HG04217 nsv3323292 1 2620274 2620274 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487674,nssv14477447,nssv14478059,nssv14474327 M 14 4 0 TTC34 HG00268,HG00514,HG02059,NA19434 nsv160247 1 2620307 2622675 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178825 M 24 TTC34 nsv5608460 1 2620334 2620334 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064482 M 35 1 0 TTC34 NA20847 nsv3323500 1 2620416 2620416 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478547 M 14 1 0 TTC34 HG00514 nsv3324195 1 2620473 2620473 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483967 M 14 1 0 TTC34 HG00514 nsv3323799 1 2620530 2620731 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482657 M 14 0 1 TTC34 NA19434 nsv3323501 1 2620629 2620629 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475199 M 14 1 0 TTC34 HG00514 nsv3323502 1 2620635 2620798 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14795353,nssv14792968,nssv14808723,nssv14809331,nssv14798372,nssv14798336 M 14 0 6 TTC34 HG00268,HG00514,HG02059,HG02818,HG04217,NA19434 nsv5571294 1 2620794 2621152 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064392 M 35 0 1 TTC34 HG03486 nsv3323293 1 2620796 2620916 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490749,nssv14487152 M 14 0 2 TTC34 CHM13,NA19434 nsv5617180 1 2620902 2620902 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064393 M 35 1 0 TTC34 NA24385 nsv1116583 1 2620916 2622963 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978765 M 2 1 0 TTC34 KWS2 nsv3323294 1 2620921 2620921 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483432 M 14 1 0 TTC34 HG00514 nsv5573458 1 2620958 2621077 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064483 M 35 0 1 TTC34 NA24385 nsv3324219 1 2620972 2620972 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476611 M 14 1 0 TTC34 CHM1 nsv5612229 1 2620989 2620989 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064394 M 35 1 0 TTC34 NA24385 nsv3324196 1 2621013 2621172 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14800941,nssv14797678 M 14 0 2 TTC34 HG02818,NA19434 nsv3323503 1 2621073 2621073 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476647 M 14 1 0 TTC34 HG02818 nsv3324197 1 2621075 2621075 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476662 M 14 1 0 TTC34 HG00514 nsv3323821 1 2621103 2621103 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490916 M 14 1 0 TTC34 CHM1 nsv3324220 1 2621137 2621137 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477994 M 14 1 0 TTC34 CHM1 nsv3324198 1 2621158 2621158 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479596,nssv14491963 M 14 2 0 TTC34 HG00514,HG02818 nsv3323295 1 2621207 2621408 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476895 M 14 0 1 TTC34 HG02818 nsv6326883 1 2621240 2624339 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203486 M 19652 1 0 TTC34 nsv5615716 1 2621370 2621370 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064484 M 35 1 0 TTC34 HG03486 nsv3323329 1 2621372 2621372 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472730 M 14 1 0 TTC34 CHM1 nsv3323296 1 2621374 2621374 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483086,nssv14478986 M 14 2 0 TTC34 HG00514,NA19434 nsv3323800 1 2621395 2621395 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489561,nssv14479159,nssv14486294 M 14 3 0 TTC34 HG00268,HG00514,HG02059 nsv5573688 1 2621489 2622972 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064485 M 35 0 1 TTC34 HG02587 nsv3324199 1 2621528 2621528 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480669 M 14 1 0 TTC34 NA19434 nsv5618032 1 2621611 2621611 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064396 M 35 1 0 TTC34 NA19239 nsv3324200 1 2621673 2621753 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477850 M 14 0 1 TTC34 HG04217 nsv3323801 1 2621694 2621694 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476939,nssv14489365,nssv14475689,nssv14491830,nssv14475038 M 14 5 0 TTC34 HG00268,HG00514,HG02059,HG02818,NA19434 nsv5606615 1 2621702 2621702 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064486 M 35 1 0 TTC34 HG00513 nsv5609080 1 2621719 2621719 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065052 M 35 1 0 TTC34 HG03683 nsv3323504 1 2621731 2621731 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473956,nssv14487373,nssv14484900,nssv14484055,nssv14488114 M 14 5 0 TTC34 HG00268,HG00514,HG02059,HG02818,NA19434 nsv3930060 1 2621750 2621950 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15176612 M 1 0 1 TTC34 HG002 nsv5983542 1 2621752 2621866 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518674 M 405 0 1 TTC34 nsv5612399 1 2621764 2621764 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065053 M 35 1 0 TTC34 NA24385 nsv3323505 1 2621797 2621797 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478007 M 14 1 0 TTC34 HG00514 nsv5605348 1 2621857 2621857 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064488 M 35 1 0 TTC34 HG03125 nsv3323802 1 2621867 2621867 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477464 M 14 1 0 TTC34 HG00514 nsv3324201 1 2621997 2621997 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479580 M 14 1 0 TTC34 HG00514 nsv3323298 1 2622037 2622157 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14795473 M 14 0 1 TTC34 NA19434 nsv5619264 1 2622132 2622132 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065054 M 35 1 0 TTC34 HG03065 nsv6041840 1 2622164 2622164 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524127 M 405 1 0 TTC34 nsv3324202 1 2622177 2622177 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489466,nssv14487468 M 14 2 0 TTC34 HG00514,NA19434 nsv3323299 1 2622177 2622257 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491887,nssv14473100,nssv14477111 M 14 0 3 TTC34 HG00514,HG02818,HG04217 nsv5620395 1 2622194 2622194 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065055 M 35 1 0 TTC34 NA24385 nsv3323803 1 2622226 2622226 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475197 M 14 1 0 TTC34 HG00514 esv3684128 1 2622227 2622308 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468792 M 20 0 1 TTC34 nsv6328387 1 2622240 2626539 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203487 M 19652 1 0 TTC34 nsv6042423 1 2622333 2622333 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528955 M 405 1 0 TTC34 nsv3323331 1 2622367 2622367 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484621 M 14 1 0 TTC34 CHM1 nsv3323300 1 2622371 2622371 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490134 M 14 1 0 TTC34 HG00514 nsv3323301 1 2622423 2622423 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485657,nssv14491521 M 14 2 0 TTC34 HG00514,HG02818 nsv3323804 1 2622437 2622437 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483722 M 14 1 0 TTC34 NA19434 nsv3323302 1 2622437 2622680 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479054,nssv14480227,nssv14475269 M 14 0 3 TTC34 HG00514,HG00733,HG04217 nsv5983717 1 2622446 2622525 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530710 M 405 0 1 TTC34 esv3671754 1 2622457 2622546 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16493782 M 20 0 0 TTC34 nsv3323506 1 2622483 2622483 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486458 M 14 1 0 TTC34 NA19434 nsv3323507 1 2622498 2622618 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486343,nssv14491541 M 14 0 2 TTC34 HG02818,HG04217 nsv5618503 1 2622522 2622522 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064491 M 35 1 0 TTC34 HG00864 nsv3323805 1 2622539 2622539 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482724 M 14 1 0 TTC34 HG00514 nsv3947988 1 2622688 2622768 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15176621 M 1 0 1 TTC34 HG002 nsv3323806 1 2622691 2622691 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480286 M 14 1 0 TTC34 HG00514 nsv3323822 1 2622755 2622755 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487096 M 14 1 0 TTC34 CHM1 nsv160029 1 2622815 2628837 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178607 M 24 TTC34 nsv3324203 1 2622840 2622919 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472260 M 14 0 1 TTC34 HG00514 nsv3323303 1 2622854 2622854 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14485542,nssv14482061,nssv14476338,nssv14487752 M 14 4 0 TTC34 HG00514,HG02059,HG02818,NA19434 nsv3323527 1 2622973 2622973 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481548 M 14 1 0 TTC34 HG02818 nsv3953557 1 2623012 2623093 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177437 M 1 0 1 TTC34 HG002 nsv5983632 1 2623027 2623100 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522843 M 405 0 1 TTC34 nsv5620674 1 2623035 2623035 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065059 M 35 1 0 TTC34 NA24385 nsv3323332 1 2623056 2623056 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488418 M 14 1 0 TTC34 CHM1 nsv5983718 1 2623095 2623215 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537377 M 405 0 1 TTC34 nsv3324204 1 2623098 2623098 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489643 M 14 1 0 TTC34 HG00514 nsv160879 1 2623117 2625882 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179457 M 24 TTC34 nsv3323304 1 2623144 2623344 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482888 M 14 0 1 TTC34 HG02818 nsv5612445 1 2623158 2623158 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064492 M 35 1 0 TTC34 NA20509 nsv3323305 1 2623202 2623202 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482640,nssv14476886 M 14 2 0 TTC34 HG00268,HG00514 nsv159137 1 2623263 2623383 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177715 M 24 TTC34 nsv3324205 1 2623276 2624117 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490958 M 14 0 1 TTC34 CHM13 nsv3323807 1 2623277 2623277 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481981,nssv14474457 M 14 2 0 TTC34 HG00514,HG02818 nsv5617371 1 2623330 2623330 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064493 M 35 1 0 TTC34 HG03486 nsv5983633 1 2623336 2623457 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535314 M 405 0 1 TTC34 nsv3324206 1 2623393 2623393 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483450,nssv14477229 M 14 2 0 TTC34 HG00514,HG02818 nsv3323823 1 2623406 2623406 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473372 M 14 1 0 TTC34 CHM1 nsv3324207 1 2623487 2623487 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479425 M 14 1 0 TTC34 HG02059 nsv3929059 1 2623499 2623857 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177448 M 1 0 1 TTC34 HG002 nsv3323306 1 2623500 2623500 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481616,nssv14474098 M 14 2 0 TTC34 HG02059,HG02818 nsv3323307 1 2623576 2623576 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483396 M 14 1 0 TTC34 HG02818 nsv5618817 1 2623577 2623577 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064494 M 35 1 0 TTC34 NA20509 nsv3323808 1 2623587 2623587 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487661 M 14 1 0 TTC34 HG00514 nsv3323308 1 2623749 2623749 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484470,nssv14489570 M 14 2 0 TTC34 HG00514,HG02818 nsv3323508 1 2623775 2623775 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481676,nssv14490168 M 14 2 0 TTC34 HG00514,HG02818 nsv5610435 1 2623790 2623790 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064495 M 35 1 0 TTC34 HG00171 nsv3930062 1 2623813 2623813 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15185966 M 1 1 0 TTC34 HG002 nsv3324208 1 2623911 2623911 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489514 M 14 1 0 TTC34 HG02818 nsv6057193 1 2623921 2623921 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523405 M 405 1 0 TTC34 nsv5983503 1 2623925 2624001 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528359 M 405 0 1 TTC34 nsv160272 1 2623929 2633004 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178850 M 24 TTC34 nsv3323509 1 2623935 2623935 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484390 M 14 1 0 TTC34 HG02818 nsv5608691 1 2624011 2624011 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065068 M 35 1 0 TTC34 HG02011 nsv3323510 1 2624044 2624044 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472484 M 14 1 0 TTC34 HG02818 nsv3324209 1 2624147 2624147 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480929,nssv14476748 M 14 2 0 TTC34 HG00514,NA19434 nsv3324223 1 2624217 2624217 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476612 M 14 1 0 TTC34 HG02818 nsv3324210 1 2624234 2624234 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472880 M 14 1 0 TTC34 HG00514 nsv3323309 1 2624246 2624246 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491284 M 14 1 0 TTC34 HG02059 nsv3323511 1 2624253 2624973 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491159 M 14 0 1 TTC34 HG00733 nsv5565724 1 2624263 2624383 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064497 M 35 0 1 TTC34 HG00731 nsv3323310 1 2624344 2624344 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486003,nssv14488433 M 14 2 0 TTC34 HG02818,NA19434 nsv5983634 1 2624355 2626400 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526813 M 405 0 1 TTC34 nsv3323809 1 2624464 2624464 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487365 M 14 1 0 TTC34 HG02818 nsv3324211 1 2624465 2624465 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476012 M 14 1 0 TTC34 HG00514 nsv3324224 1 2624482 2624482 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480786 M 14 1 0 TTC34 CHM1 nsv5615173 1 2624488 2624488 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064499 M 35 1 0 TTC34 NA19983 nsv3323311 1 2624545 2624545 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491867,nssv14490924,nssv14475546,nssv14477030 M 14 4 0 TTC34 HG00514,HG02059,HG02818,NA19434 nsv5983651 1 2624545 2624624 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532243 M 405 0 1 TTC34 nsv3323312 1 2624568 2624568 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475181,nssv14485740,nssv14485949,nssv14477887 M 14 4 0 TTC34 HG00514,HG02059,HG02818,NA19434 nsv3323827 1 2624584 2624663 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474293 M 14 0 1 TTC34 HG02818 nsv3323512 1 2624593 2624593 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488993,nssv14478487,nssv14488783 M 14 3 0 TTC34 HG00514,HG02059,HG02818 nsv5983543 1 2624656 2625257 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532654 M 405 0 1 TTC34 nsv5983734 1 2624692 2625281 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531111 M 405 0 1 TTC34 nsv3324225 1 2624694 2624853 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489414 M 14 0 1 TTC34 HG02818 nsv4742256 1 2624694 2625294 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16269416 M 25 0 1 TTC34 nsv3324212 1 2624771 2624850 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478801,nssv14480396,nssv14475989 M 14 0 3 TTC34 HG00514,HG04217,NA19434 nsv5606244 1 2624816 2624816 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064500 M 35 1 0 TTC34 NA12329 nsv3323810 1 2624865 2624865 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482915 M 14 1 0 TTC34 HG02818 nsv3323313 1 2624878 2624878 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485019,nssv14479471 M 14 2 0 TTC34 HG00514,HG02059 nsv3323314 1 2624933 2624933 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485529,nssv14475632 M 14 2 0 TTC34 HG00514,HG02059 nsv5983555 1 2624977 2625069 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536310 M 405 0 1 TTC34 nsv3323513 1 2625065 2625065 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475296 M 14 1 0 TTC34 HG00514 nsv5614254 1 2625105 2625105 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064501 M 35 1 0 TTC34 HG00513 nsv3323514 1 2625105 2625225 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479403 M 14 0 1 TTC34 NA19434 nsv3323533 1 2625133 2625133 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487403 M 14 1 0 TTC34 CHM1 nsv3323315 1 2625152 2625152 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479144 M 14 1 0 TTC34 HG02818 nsv3323316 1 2625248 2625248 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473831,nssv14482382 M 14 2 0 TTC34 HG00514,HG02818 nsv5604806 1 2625399 2625399 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064502 M 35 1 0 TTC34 HG02011 nsv5617615 1 2625432 2625432 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064498 M 35 1 0 TTC34 HG00864 nsv3323811 1 2625454 2625454 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487395 M 14 1 0 TTC34 HG02059 nsv3323515 1 2625466 2625627 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475612 M 14 0 1 TTC34 HG00514 nsv3323317 1 2625469 2625469 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489885,nssv14477632 M 14 2 0 TTC34 HG00514,HG02818 nsv3323337 1 2625483 2625764 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484054 M 14 0 1 TTC34 CHM1 nsv3323534 1 2625484 2625484 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480209 M 14 1 0 TTC34 CHM1 nsv3324213 1 2625526 2625526 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485804,nssv14482575 M 14 2 0 TTC34 HG00514,HG02818 nsv3323318 1 2625556 2625556 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482025 M 14 1 0 TTC34 HG00514 nsv5618481 1 2625575 2625575 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064375 M 35 1 0 TTC34 HG00514 nsv6053541 1 2625637 2625637 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531825 M 405 1 0 TTC34 nsv3324226 1 2625639 2625639 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478703 M 14 1 0 TTC34 CHM1 nsv3323319 1 2625669 2625669 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477532 M 14 1 0 TTC34 NA19434 nsv5983652 1 2625747 2625867 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530459 M 405 0 1 TTC34 nsv3324227 1 2625748 2625748 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474801 M 14 1 0 TTC34 CHM1 nsv3323812 1 2625876 2626197 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482658 M 14 0 1 TTC34 CHM13 nsv3323828 1 2626004 2626004 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487642 M 14 1 0 TTC34 CHM1 nsv5622310 1 2626009 2626009 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064503 M 35 1 0 TTC34 HG02011 nsv5583828 1 2626045 2626205 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064376 M 35 0 1 TTC34 NA24385 nsv3323516 1 2626181 2626261 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488561 M 14 0 1 TTC34 HG02818 nsv5983635 1 2626203 2626798 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526233 M 405 0 1 TTC34 nsv3323320 1 2626260 2626260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490000 M 14 1 0 TTC34 HG00514 nsv160341 1 2626290 2627173 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178919 M 24 TTC34 nsv3323813 1 2626350 2626350 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472900,nssv14478284,nssv14484625 M 14 3 0 TTC34 HG00514,HG02059,HG02818 nsv3323535 1 2626495 2626747 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477551 M 14 0 1 TTC34 CHM1 nsv3324228 1 2626572 2626572 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484844 M 14 1 0 TTC34 CHM1 nsv3323814 1 2626601 2626761 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480298,nssv14472360 M 14 0 2 TTC34 CHM13,HG00514 nsv5580147 1 2626609 2627010 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064377 M 35 0 1 TTC34 NA24385 nsv5983735 1 2626676 2626817 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534285 M 405 0 1 TTC34 nsv5428216 1 2626714 2627397 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901666 M 3202 0 1 TTC34 nsv3324214 1 2626777 2626896 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477897 M 14 0 1 TTC34 HG04217 nsv3323338 1 2626855 2626855 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472992 M 14 1 0 TTC34 CHM1 nsv5983636 1 2626894 2628217 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535180 M 405 0 1 TTC34 nsv3323517 1 2626915 2626915 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485878 M 14 1 0 TTC34 HG00514 nsv5615659 1 2626917 2626917 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064504 M 35 1 0 TTC34 NA24385 nsv3324215 1 2627008 2627095 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476955 M 14 0 1 TTC34 HG00514 nsv545093 1 2627023 2631653 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708761 M 17421 1 0 TTC34 nsv3323829 1 2627038 2627038 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482706 M 14 1 0 TTC34 CHM1 nsv3323815 1 2627079 2627434 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483004 M 14 0 1 TTC34 HG02059 nsv3323518 1 2627146 2627146 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489217 M 14 1 0 TTC34 HG00268 nsv5620719 1 2627219 2627219 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064505 M 35 1 0 TTC34 NA19983 nsv5608497 1 2627228 2627228 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064506 M 35 1 0 TTC34 NA19239 nsv3323321 1 2627233 2627233 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485744,nssv14475827 M 14 2 0 TTC34 HG00514,HG02818 nsv3323831 1 2627303 2627422 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482998 M 14 0 1 TTC34 HG02818 nsv3323519 1 2627306 2627306 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489093 M 14 1 0 TTC34 HG04217 nsv3323520 1 2627422 2627422 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481094 M 14 1 0 TTC34 HG00268 nsv3323536 1 2627509 2627509 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472473 M 14 1 0 TTC34 CHM1 nsv3323322 1 2627615 2627695 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480226 M 14 0 1 TTC34 HG00514 nsv5572773 1 2627629 2627752 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064379 M 35 0 1 TTC34 NA24385 nsv5567158 1 2627691 2627852 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064507 M 35 0 1 TTC34 HG00513 nsv5983504 1 2627696 2627776 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529590 M 405 0 1 TTC34 nsv5983556 1 2627696 2627776 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533951 M 405 0 1 TTC34 nsv6045193 1 2627709 2627709 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525764 M 405 1 0 TTC34 nsv3324216 1 2627714 2627714 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487623 M 14 1 0 TTC34 HG02818 nsv5619119 1 2627776 2627776 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064508 M 35 1 0 TTC34 NA24385 nsv3323521 1 2627879 2627879 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486239 M 14 1 0 TTC34 CHM13 nsv3323323 1 2627982 2627982 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474651 M 14 1 0 TTC34 CHM13 nsv5983736 1 2628001 2628111 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523323 M 405 0 1 TTC34 nsv3323339 1 2628076 2628076 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472584 M 14 1 0 TTC34 CHM1 nsv5621955 1 2628439 2628439 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064380 M 35 1 0 TTC34 HG03486 nsv5416388 1 2628439 2634079 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901667 M 3202 0 0 TTC34 nsv3323522 1 2628479 2628479 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472951 M 14 1 0 TTC34 HG00514 nsv3323324 1 2628511 2628511 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485872 M 14 1 0 TTC34 HG00514 nsv5615891 1 2628520 2628520 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064509 M 35 1 0 TTC34 HG00512 nsv3324229 1 2628602 2628602 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482662 M 14 1 0 TTC34 CHM1 nsv6040786 1 2628637 2628637 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536993 M 405 1 0 TTC34 nsv6054263 1 2628665 2628665 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518166 M 405 1 0 TTC34 nsv5983637 1 2628690 2628770 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525193 M 405 0 1 TTC34 nsv3324217 1 2628699 2628699 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479291 M 14 1 0 TTC34 HG00514 nsv5983737 1 2628784 2628865 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530181 M 405 0 1 TTC34 nsv5983719 1 2628817 2628897 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529916 M 405 0 1 TTC34 nsv3323523 1 2628868 2629069 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490222,nssv14485035 M 14 0 2 TTC34 HG00514,HG02818 nsv6053442 1 2629125 2629125 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529952 M 405 1 0 TTC34 nsv5983505 1 2629212 2629332 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536535 M 405 0 1 TTC34 nsv5983557 1 2629228 2629374 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519597 M 405 0 1 TTC34 nsv3323816 1 2629275 2629275 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477209,nssv14477919 M 14 2 0 TTC34 HG00514,HG02818 nsv6053837 1 2629320 2629320 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521226 M 405 1 0 TTC34 nsv3323817 1 2629340 2629739 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474490 M 14 0 1 TTC34 HG02059 nsv3323524 1 2629467 2629467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481136 M 14 1 0 TTC34 HG00514 nsv5581715 1 2629535 2631261 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064510 M 35 0 1 TTC34 HG03486 nsv3323325 1 2629632 2629632 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477821 M 14 1 0 TTC34 HG02818 nsv3323818 1 2629785 2629866 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473024 M 14 0 1 TTC34 HG02818 nsv5616485 1 2629885 2629885 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064381 M 35 1 0 TTC34 NA19238 esv6481 1 2629935 2630539 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28922 M 1 0 0 TTC34 nsv3323819 1 2630287 2630408 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474740 M 14 0 1 TTC34 HG02059 nsv5616508 1 2630844 2630844 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064511 M 35 1 0 TTC34 NA19240 nsv4037910 1 2631034 2631454 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851051 M 10847 0 1 TTC34 nsv6050614 1 2631038 2631038 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536433 M 405 1 0 TTC34 nsv3323525 1 2631149 2631149 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473603 M 14 1 0 TTC34 HG00514 nsv5983558 1 2631261 2631859 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526899 M 405 0 1 TTC34 nsv3323820 1 2631715 2631715 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479488 M 14 1 0 TTC34 HG00514 nsv4033360 1 2631798 2631849 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851059 M 10847 0 1 TTC34 nsv5983721 1 2632102 2632361 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523781 M 405 0 1 TTC34 nsv5605350 1 2632185 2632185 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064513 M 35 1 0 TTC34 HG03486 nsv5619777 1 2632342 2632342 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064382 M 35 1 0 TTC34 HG00864 nsv5616869 1 2632416 2632416 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064514 M 35 1 0 TTC34 HG00731 nsv6047256 1 2632418 2632418 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531684 M 405 1 0 TTC34 esv1095177 1 2632561 2632561 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3698632 M 2 1 0 TTC34 HuRef nsv3938150 1 2632561 2632561 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15185994 M 1 1 0 TTC34 HG002 nsv5983638 1 2632625 2632749 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536001 M 405 0 1 TTC34 nsv3323341 1 2632759 2632759 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487313 M 14 1 0 TTC34 CHM1 nsv160000 1 2632791 2632990 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178578 M 24 TTC34 nsv159461 1 2633264 2634106 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178039 M 24 TTC34 nsv3324222 1 2634142 2634142 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485947 M 14 1 0 TTC34 CHM1 nsv4039083 1 2684220 2736100 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963303 M 10847 1 0 TTC34 nsv5983656 1 2684221 2686243 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535888 M 405 0 1 TTC34 nsv6138419 1 2684221 3216964 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901670 M 3202 1 0 ACTRT2,LINC00982,MIR4251,PRDM16,TTC34 esv23086 1 2684255 2694960 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv10077,esv19931 M 40 12 2 TTC34 NA07037,NA12287,NA12489,NA18502,NA18508,NA18517,NA18858,NA18861,NA18907,NA18909,NA19099,NA19190,NA19225,NA19240 nsv821258 1 2684255 2695040 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420624 M 1 1 0 TTC34 NA10851 nsv1151057 1 2684299 2693800 CNV duplication John_et_al_2014 26484159 Sequencing nssv4001989 M 1 1 0 TTC34 KWB1 esv3585031 1 2684305 2719507 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841898,essv9841894,essv9841899,essv9841896,essv9841891,essv9841890,essv9841895,essv9841892,essv9841897,essv9841893 M 2504 10 0 TTC34 HG01063,HG02256,HG02308,HG02315,HG03224,HG03303,HG03363,NA19042,NA19834,NA20348 nsv545094 1 2684502 2691265 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708762 M 17421 1 0 TTC34 nsv3323835 1 2684746 2685158 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476409 M 14 0 1 TTC34 CHM1 nsv5571278 1 2684769 2684899 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064527 M 35 0 1 TTC34 NA19239 nsv5983565 1 2684770 2684900 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535202 M 405 0 1 TTC34 nsv5577952 1 2684840 2684892 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064528 M 35 0 1 TTC34 HG03683 dgv21e59 1 2685192 2692090 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3409631,esv3419182,esv3330891,esv3418717,esv3347403,esv3448150 M 185 6 0 TTC34 NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 nsv4731614 1 2685693 2693032 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16292327 M 25 0 1 TTC34 nsv1128583 1 2685700 2689900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960494 M 2 1 0 TTC34 KWS1 nsv1115330 1 2685700 2693800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976382 M 2 1 0 TTC34 KWS2 nsv5610766 1 2685769 2685769 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065058 M 35 1 0 TTC34 HG03065 nsv3323541 1 2685961 2685961 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477665 M 14 1 0 TTC34 HG02818 nsv5983566 1 2686040 2686236 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524628 M 405 0 1 TTC34 nsv3324236 1 2686146 2693481 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490144,nssv14490384 M 14 0 2 TTC34 HG04217,NA19240 nsv3323830 1 2686186 2686186 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478951 M 14 1 0 TTC34 CHM1 nsv3195570 1 2686247 2693837 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14369998,nssv14369373,nssv14369997 M 9 0 3 TTC34 HG00512,HG00514,NA19239 nsv5618099 1 2686251 2686251 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064529 M 35 1 0 TTC34 HG03125 nsv3324237 1 2686252 2686252 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490567,nssv14474703 M 14 2 0 TTC34 HG02818,NA19240 nsv5618322 1 2686262 2686262 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064530 M 35 1 0 TTC34 NA19983 nsv3534562 1 2686338 2686338 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374134 M 9 1 0 TTC34 NA19240 nsv3324230 1 2686775 2687217 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491067 M 14 0 1 TTC34 CHM1 nsv5612058 1 2686895 2686895 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064532 M 35 1 0 TTC34 NA19239 nsv3952517 1 2687068 2687068 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15186005 M 1 1 0 TTC34 HG002 nsv5613778 1 2687132 2687132 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064516 M 35 1 0 TTC34 NA19238 nsv1077280 1 2687399 2693800 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3770110 M 1 1 0 TTC34 KWP1 nsv5983653 1 2687451 2688311 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520880 M 405 0 1 TTC34 nsv5609238 1 2687504 2687504 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064517 M 35 1 0 TTC34 HG00732 nsv3323342 1 2687545 2687545 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484091,nssv14489638 M 14 2 0 TTC34 CHM1,HG02818 nsv5582382 1 2687618 2687820 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064518 M 35 0 1 TTC34 HG00731 nsv2801906 1 2687619 2687821 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13677929 M 2 0 1 TTC34 nsv3280298 1 2687619 2687822 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14433202 M 9 0 1 TTC34 HG00514 nsv3185992 1 2687642 2687723 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14465748 M 9 0 0 TTC34 HG00733 nsv3323833 1 2687643 2687844 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474239,nssv14487330,nssv14482859 M 14 0 3 TTC34 HG00268,HG02106,HG02818 nsv5983654 1 2687649 2687849 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535568 M 405 0 1 TTC34 nsv5983567 1 2687680 2687878 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518176 M 405 0 1 TTC34 nsv5622379 1 2687705 2687705 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064533 M 35 1 0 TTC34 HG03486 nsv3324231 1 2687793 2687793 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484866 M 14 1 0 TTC34 HG02818 nsv3172342 1 2687809 2687883 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440850 M 9 0 0 TTC34 HG00733 nsv5605351 1 2687821 2687821 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064519 M 35 1 0 TTC34 HG03732 nsv3323344 1 2687822 2687822 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484449,nssv14475291 M 14 2 0 TTC34 CHM13,HG00514 nsv3323343 1 2687822 2691363 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481853,nssv14490780 M 14 0 2 TTC34 HG00514,NA19240 nsv3323538 1 2687830 2687951 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474301 M 14 0 1 TTC34 CHM1 nsv3323836 1 2688038 2688038 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490568 M 14 1 0 TTC34 HG02818 nsv6054087 1 2688108 2688108 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524286 M 405 1 0 TTC34 nsv3324238 1 2688142 2688142 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478686 M 14 1 0 TTC34 HG02818 nsv6059102 1 2688309 2688309 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520029 M 405 1 0 TTC34 nsv3323347 1 2688389 2688389 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485258 M 14 1 0 TTC34 HG02818 nsv6050166 1 2688412 2688412 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532576 M 405 1 0 TTC34 nsv6057091 1 2688648 2688648 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536237 M 405 1 0 TTC34 nsv6043356 1 2688656 2688656 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530852 M 405 1 0 TTC34 nsv3324232 1 2688899 2689180 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485603 M 14 0 1 TTC34 CHM1 nsv5576283 1 2689099 2689178 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064534 M 35 0 1 TTC34 HG03371 nsv5983561 1 2689099 2689179 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518227 M 405 0 1 TTC34 dgv1n212 1 2689161 2691004 CNV deletion Wu_et_al_2021 34764282 Sequencing nsv5983657,nsv5983967 M 405 0 2 TTC34 nsv5983568 1 2689188 2689543 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535654 M 405 0 1 TTC34 nsv5983966 1 2689220 2689380 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532829 M 405 0 1 TTC34 nsv5582932 1 2689220 2689383 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064535 M 35 0 1 TTC34 HG03125 nsv4448719 1 2689220 2689384 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15763310 M 1 0 1 TTC34 nsv5983562 1 2689220 2689384 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530910 M 405 0 1 TTC34 nsv3323540 1 2689221 2689384 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487941,nssv14482943 M 14 0 2 TTC34 HG00268,HG02818 nsv1151032 1 2689234 2689372 CNV deletion John_et_al_2014 26484159 Sequencing nssv4001965 M 1 0 1 TTC34 KWB1 nsv5983655 1 2689401 2689481 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535395 M 405 0 1 TTC34 nsv5983563 1 2689443 2689506 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524403 M 405 0 1 TTC34 nsv6055459 1 2689469 2689469 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522110 M 405 1 0 TTC34 nsv3542219 1 2689518 2689518 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413492 M 9 1 0 TTC34 HG00514 nsv5618432 1 2689523 2689523 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064522,nssv17064521 M 35 2 0 TTC34 HG00732,HG03486 nsv6053737 1 2689523 2689523 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526291 M 405 1 0 TTC34 esv1006680 1 2689524 2689683 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3585900 M 3 0 1 TTC34 HuRef nsv5983968 1 2689578 2689697 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531286 M 405 0 1 TTC34 nsv5566033 1 2689609 2689887 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064536 M 35 0 1 TTC34 HG03371 nsv5983569 1 2689664 2689823 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517929 M 405 0 1 TTC34 nsv2801172 1 2689684 2689684 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678607 M 2 1 0 TTC34 nsv3323345 1 2689684 2689684 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474587,nssv14475831,nssv14484362,nssv14478605,nssv14483791,nssv14484978,nssv14481461,nssv14479395 M 14 8 0 TTC34 HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,NA19240 nsv5983965 1 2689723 2689877 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530360 M 405 0 1 TTC34 nsv5983969 1 2689734 2689813 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526500 M 405 0 1 TTC34 nsv5983742 1 2689818 2689901 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519403 M 405 0 1 TTC34 nsv6052003 1 2689866 2689866 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533083 M 405 1 0 TTC34 nsv4033928 1 2689942 2690176 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851085 M 10847 0 1 TTC34 nsv3323346 1 2689957 2689957 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476620 M 14 1 0 TTC34 HG02106 esv1125194 1 2690111 2691077 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4352306 M 2 0 1 TTC34 HuRef nsv5618394 1 2690526 2690526 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064523 M 35 1 0 TTC34 NA19239 nsv3324233 1 2691170 2691170 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480526 M 14 1 0 TTC34 CHM1 nsv5983744 1 2691244 2691363 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534696 M 405 0 1 TTC34 nsv5605392 1 2691331 2691331 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064524 M 35 1 0 TTC34 NA12878 nsv5606105 1 2691363 2691363 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064525 M 35 1 0 TTC34 HG00731 nsv2801907 1 2691364 2691364 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681238 M 2 1 0 TTC34 nsv3324234 1 2691364 2691364 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476230,nssv14478101,nssv14472337,nssv14479167,nssv14488388,nssv14472548,nssv14485023 M 14 7 0 TTC34 HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,NA19240 nsv6041973 1 2691369 2691369 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517923 M 405 1 0 TTC34 nsv5983570 1 2691382 2691583 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528487 M 405 0 1 TTC34 nsv3535739 1 2691598 2691598 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382643,nssv14413493 M 9 2 0 TTC34 HG00514,NA19240 nsv5621250 1 2691782 2691782 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064526 M 35 1 0 TTC34 HG03009 nsv3324235 1 2691794 2691794 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490816 M 14 1 0 TTC34 HG02818 nsv5983970 1 2692381 2692551 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528697 M 405 0 1 TTC34 nsv5571983 1 2692793 2692911 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064537 M 35 0 1 TTC34 NA19239 nsv3324239 1 2692794 2692912 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483490 M 14 0 1 TTC34 NA19240 nsv3181246 1 2692794 2692913 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14406932 M 9 0 0 TTC34 NA19240 nsv5983571 1 2692825 2692942 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534596 M 405 0 1 TTC34 nsv5983572 1 2692917 2693765 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530900 M 405 0 1 TTC34 esv3585032 1 2693016 2697186 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841900 M 2504 0 1 TTC34 HG00404 nsv5885361 1 2693029 2697100 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359959 M 914 0 1 TTC34 esv2661153 1 2693029 2697101 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6292297 M 1151 0 1 TTC34 HG00404 nsv4046264 1 2693029 2697101 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851093 M 10847 0 1 TTC34 nsv5425908 1 2693029 2697101 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901671 M 3202 0 1 TTC34 nsv5623174 1 2693481 2693481 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064538 M 35 1 0 TTC34 HG00512 nsv2801809 1 2693482 2693482 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681202 M 2 1 0 TTC34 nsv3323542 1 2693482 2693482 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474282 M 14 1 0 TTC34 CHM13 nsv6043238 1 2693619 2693619 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533849 M 405 1 0 TTC34 nsv3531200 1 2693737 2693737 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382878 M 9 1 0 TTC34 NA19240 nsv3538344 1 2693770 2693770 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374158 M 9 1 0 TTC34 NA19240 nsv5606874 1 2693790 2693790 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064539 M 35 1 0 TTC34 HG03009 nsv3323837 1 2693896 2693896 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491932 M 14 1 0 TTC34 NA12878 nsv5614780 1 2693974 2693974 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064540 M 35 1 0 TTC34 HG03732 nsv5829938 1 2694071 2697121 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462507 M 914 0 0 TTC34 dgv11n100 1 2694433 3267337 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010950,nsv1010228 M 11257 2 0 ACTRT2,LINC00982,MIR4251,PRDM16,TTC34 esv3583359 1 2694517 3202884 CNV gain Uddin_et_al_2014 25503493 SNP array essv9783644 M 873 1 0 ACTRT2,LINC00982,MIR4251,PRDM16,TTC34 401842BJ esv3892858 1 2700372 2878366 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25788249,essv25788252 M 3017 2 0 TTC34 nsv4733767 1 2704832 2704892 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281582 M 25 0 1 TTC34 nsv5879211 1 2704855 2704916 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355896 M 914 0 1 TTC34 nsv5983975 1 2704855 2704917 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518070 M 405 0 1 TTC34 nsv4533784 1 2708070 2708071 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029383 M 10847 1 0 "" nsv474526 1 2711565 2711565 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019475 M 9 1 0 "" NA18956 nsv951075 1 2713001 2752400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997353 M 1 0 1 "" BILGI_BIOE dgv12n100 1 2713327 2868072 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009581,nsv997701,nsv998848,nsv1004395,nsv1009684 M 11257 9 0 "" dgv45n152 1 2713666 2724115 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3194147,nsv3198082 M 9 0 9 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv1075948 1 2714499 2715700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765668 M 1 0 1 "" KWP1 nsv5983977 1 2714772 2714848 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532322 M 405 0 1 "" nsv5983662 1 2715082 2715162 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535119 M 405 0 1 "" nsv6053507 1 2715245 2715245 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526160 M 405 1 0 "" nsv5983888 1 2715368 2715469 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528605 M 405 0 1 "" esv3684185 1 2715416 2715609 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468843 M 20 0 1 "" nsv4046683 1 2721500 2721631 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851232 M 10847 0 1 "" nsv3227681 1 2725697 2744174 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267854 M 9 1 0 "" NA19239 nsv6331992 1 2726819 2731551 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060701 M 19652 0 1 "" nsv6327589 1 2732469 2735109 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059715 M 19652 0 1 "" nsv4044706 1 2735348 2735399 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851249 M 10847 0 1 "" nsv5873614 1 2735918 2736121 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358788 M 914 0 1 "" esv3363378 1 2736692 2736990 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692269 M 185 1 0 "" NA19239 nsv4754879 1 2736795 2736795 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16277109 M 25 1 0 "" nsv5610292 1 2736823 2736823 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065087,nssv17065088 M 35 2 0 "" HG00513,HG02011 nsv3537228 1 2736842 2736842 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384639 M 9 1 0 "" NA19240 nsv3323546 1 2736875 2736875 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487237 M 14 1 0 "" NA19434 nsv5884701 1 2736876 2736926 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362066 M 914 0 1 "" nsv6047101 1 2736884 2736884 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534455 M 405 1 0 "" nsv3540314 1 2736893 2736893 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378384 M 9 1 0 "" NA19240 nsv5619553 1 2736925 2736925 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065089 M 35 1 0 "" NA19983 nsv469835 1 2740701 2922551 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1675009 M 265 0 1 "" nsv4052324 1 2742733 2742787 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851259 M 10847 0 1 "" nsv5829943 1 2745403 2747402 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459171 M 914 0 0 "" nsv1144339 1 2757426 2757479 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995084 M 2 0 1 "" KWS1 nsv3211279 1 2762686 2771130 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14266952,nssv14266950,nssv14266951 M 9 3 0 "" HG00732,HG00733,NA19239 nsv3221551 1 2762686 2785516 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14270214,nssv14270218,nssv14270216,nssv14270217,nssv14270215 M 9 5 0 "" HG00512,HG00513,HG00514,HG00731,HG00733 nsv4443988 1 2765350 2765350 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762340 M 1 1 0 "" nsv5983891 1 2765465 2766300 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17527155 M 405 1 0 "" esv3684223 1 2765585 2765872 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468878 M 20 0 1 "" nsv6043314 1 2765680 2765680 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517958 M 405 1 0 "" nsv3539708 1 2765736 2765736 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413495 M 9 1 0 "" HG00514 nsv6055965 1 2765789 2765789 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537085 M 405 1 0 "" nsv6041902 1 2765833 2765833 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522428 M 405 1 0 "" nsv3324247 1 2765840 2765840 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489926,nssv14478091 M 14 2 0 "" HG02818,HG04217 nsv2801174 1 2765872 2765872 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694709 M 2 1 0 "" nsv3324248 1 2765872 2765872 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479517,nssv14484009,nssv14480197,nssv14490054,nssv14481434,nssv14480552,nssv14475393,nssv14490599,nssv14485338,nssv14476033,nssv14491857 M 14 11 0 "" CHM13,HG00268,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3323549 1 2765872 2765934 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480737 M 14 0 1 "" HG02818 nsv1150123 1 2765887 2765967 CNV insertion John_et_al_2014 26484159 Sequencing nssv3998914 M 1 1 0 "" KWB1 nsv2801813 1 2765904 2765904 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680116 M 2 1 0 "" nsv3323352 1 2765904 2765904 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472755,nssv14480249,nssv14475048,nssv14490957,nssv14484263 M 14 5 0 "" CHM13,HG01352,HG02059,HG02106,NA19240 nsv3543070 1 2765923 2765923 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413496 M 9 1 0 "" HG00514 nsv5584254 1 2765924 2765986 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065102 M 35 0 1 "" HG02818 esv2455629 1 2765957 2766825 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5201421 M 1 1 0 "" NA18507 nsv3064109 1 2765976 2765976 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14037622 M 2 1 0 "" NA12878 nsv5607571 1 2765984 2765984 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065103 M 35 1 0 "" HG00096 nsv2802076 1 2765985 2765985 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685197 M 2 1 0 "" nsv3532938 1 2765989 2765989 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413497 M 9 1 0 "" HG00514 esv1778376 1 2766029 2766029 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3921204 M 2 1 0 "" HuRef nsv5610802 1 2766029 2766029 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065105,nssv17065104 M 35 2 0 "" HG00731,NA12329 nsv2801175 1 2766030 2766030 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687605 M 2 1 0 "" nsv3323842 1 2766030 2766030 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482944,nssv14482835,nssv14491544,nssv14480793,nssv14477781,nssv14474361,nssv14479714,nssv14485191,nssv14485628,nssv14489405,nssv14475276,nssv14473826,nssv14481120 M 14 13 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3537927 1 2766037 2766037 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373723 M 9 1 0 "" NA19240 nsv3324251 1 2766038 2766038 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472412,nssv14473421 M 14 2 0 "" HG02059,HG04217 nsv3539951 1 2766039 2766039 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413498,nssv14440851 M 9 2 0 "" HG00514,HG00733 nsv3948533 1 2766061 2766061 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15186018 M 1 1 0 "" HG002 nsv6043897 1 2766061 2766061 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536061 M 405 1 0 "" nsv3323550 1 2766063 2766063 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480088,nssv14486463 M 14 2 0 "" HG02059,HG04217 nsv3053578 1 2766064 2766064 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14027533 M 2 1 0 "" NA12878 nsv3323843 1 2766133 2766133 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472503,nssv14484719 M 14 2 0 "" HG02059,HG04217 nsv5983892 1 2766178 2766241 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523912 M 405 0 1 "" nsv951916 1 2767401 2908200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2998256 M 1 0 1 "" BILGI_BIOE nsv3186268 1 2767629 2770437 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14406234,nssv14407028 M 9 0 0 "" NA19240 esv2606115 1 2768287 2769751 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5324371 M 1 0 1 "" NA18507 nsv4448720 1 2768484 2768692 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15768495 M 1 0 1 "" nsv3323353 1 2768520 2768520 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485928 M 14 1 0 "" HG02818 nsv4748845 1 2768598 2768797 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16277266 M 25 0 1 "" nsv5572512 1 2768622 2769089 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064679 M 35 0 1 "" NA19238 nsv5983573 1 2768644 2768750 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519805 M 405 0 1 "" esv1145877 1 2768645 2768645 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4076825 M 2 1 0 "" HuRef nsv5620670 1 2768646 2768646 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064680 M 35 1 0 "" NA19238 nsv2802077 1 2768658 2768658 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676661 M 2 1 0 "" nsv3323844 1 2768658 2768658 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476629,nssv14480759,nssv14484990,nssv14472219,nssv14474607,nssv14478994,nssv14476769 M 14 7 0 "" CHM13,HG00268,HG02059,HG02106,HG02818,NA12878,NA19434 nsv3530589 1 2768677 2768677 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413499 M 9 1 0 "" HG00514 nsv3323551 1 2768711 2768970 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484578,nssv14482826 M 14 0 2 "" HG01352,NA19240 nsv5577983 1 2768715 2768817 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064681 M 35 0 1 "" HG03009 nsv5567823 1 2768793 2769000 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064682 M 35 0 1 "" HG00731 nsv3179790 1 2768865 2768917 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14455353 M 9 0 0 "" HG00733 nsv3281743 1 2768920 2769128 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14433573 M 9 0 1 "" HG00514 nsv3177081 1 2768956 2769008 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14462316 M 9 0 0 "" HG00733 nsv5609525 1 2769013 2769013 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064683 M 35 1 0 "" HG03371 nsv2801910 1 2769014 2769325 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13682436 M 2 0 1 "" nsv3323845 1 2769014 2769325 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491237,nssv14491081,nssv14480600,nssv14490029,nssv14484416,nssv14474362,nssv14486833 M 14 0 7 "" CHM13,HG00268,HG02059,HG02106,HG02818,NA12878,NA19434 nsv3323354 1 2769022 2769073 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472615,nssv14490944 M 14 0 2 "" HG01352,NA19240 nsv5567250 1 2769073 2769124 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064684 M 35 0 1 "" NA12329 nsv5983574 1 2769081 2769155 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530301 M 405 0 1 "" nsv3183790 1 2769219 2769271 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14434010 M 9 0 0 "" HG00514 nsv3947755 1 2769221 2769324 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177526 M 1 0 1 "" HG002 nsv5583001 1 2769221 2769324 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064685 M 35 0 1 "" HG00732 nsv3280594 1 2769225 2769329 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14454690 M 9 0 1 "" HG00733 nsv3323846 1 2769226 2769277 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473398,nssv14491463 M 14 0 2 "" HG01352,NA19240 nsv5983750 1 2769236 2769342 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526687 M 405 0 1 "" nsv3323847 1 2769274 2769325 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475682 M 14 0 1 "" HG00733 nsv3324252 1 2769333 2769436 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479431,nssv14482041 M 14 0 2 "" HG01352,NA19240 nsv5983983 1 2769434 2769490 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521656 M 405 0 1 "" nsv5613731 1 2769490 2769490 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064686 M 35 1 0 "" HG03371 nsv455662 1 2769542 2829551 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv533180 M 1557 0 1 "" HGDP00515 nsv545095 1 2769542 2829551 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172586 M 17421 0 1 "" HGDP00515 esv1008548 1 2772784 2776125 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564145 M 3 1 0 "" HuRef nsv4461105 1 2775120 2775121 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029552 M 10847 1 0 "" nsv1010795 1 2775170 2851238 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472022 M 11257 1 0 "" nsv4050534 1 2775213 2910548 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851268 M 10847 0 1 "" nsv6323462 1 2775223 2833296 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059965 M 19652 0 1 "" nsv6320217 1 2775676 2776333 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203545 M 19652 1 0 "" nsv5983894 1 2775754 2776017 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17528241 M 405 1 0 "" nsv2801815 1 2775785 2775862 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13681987 M 2 0 1 "" nsv3323552 1 2775785 2775862 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479230,nssv14479413,nssv14485259,nssv14481626,nssv14482412,nssv14475414 M 14 0 6 "" CHM1,HG00514,HG00733,HG02059,HX1,NA12878 dgv46n152 1 2775790 2775880 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280617,nsv3197683 M 9 0 3 "" HG00514,HG00732,HG00733 dgv19n106 1 2775798 2775886 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1121064,nsv1134960 M 2 0 2 "" KWS1,KWS2 nsv1075951 1 2775801 2775880 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769967 M 1 0 1 "" KWP1 nsv5576731 1 2775802 2775879 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064688 M 35 0 1 "" HG00732 esv3561426 1 2775802 2775880 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9760173 M 767 0 1 "" nsv3942325 1 2775802 2775880 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177549 M 1 0 1 "" HG002 nsv5983575 1 2775802 2775880 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531477 M 405 0 1 "" nsv4043659 1 2775851 2775999 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963321 M 10847 1 0 "" nsv5949751 1 2775867 2775867 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17364692 M 914 1 0 "" nsv5983895 1 2775919 2776045 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17534703 M 405 1 0 "" nsv4043950 1 2776012 2776129 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963328 M 10847 1 0 "" nsv4052332 1 2776032 2776174 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963336 M 10847 1 0 "" nsv3323553 1 2776051 2776051 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473581,nssv14490322,nssv14490008 M 14 3 0 "" CHM1,HX1,NA12878 nsv4443989 1 2776053 2776053 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759372 M 1 1 0 "" nsv2802078 1 2776081 2776081 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685088 M 2 1 0 "" nsv3323356 1 2776081 2776081 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472993,nssv14487229,nssv14477486,nssv14487296,nssv14488867,nssv14479865,nssv14477749,nssv14485231,nssv14491306 M 14 9 0 "" CHM13,HG00268,HG00733,HG02059,HG02106,HG02818,HX1,NA12878,NA19240 nsv3539691 1 2776101 2776101 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413500 M 9 1 0 "" HG00514 nsv5624398 1 2776101 2776101 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064689,nssv17064937 M 35 2 0 "" NA19238,NA24385 nsv3533941 1 2776108 2776108 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440853 M 9 1 0 "" HG00733 nsv5612614 1 2776108 2776108 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064938,nssv17064939 M 35 2 0 "" HG00731,HG02818 nsv3538760 1 2776124 2776124 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386461 M 9 1 0 "" NA19240 nsv6044472 1 2776124 2776124 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530674 M 405 1 0 "" nsv2801176 1 2776125 2776125 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691708 M 2 1 0 "" nsv3539787 1 2776125 2776125 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376839 M 9 1 0 "" NA19240 nsv5954367 1 2776126 2776126 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17349981 M 914 1 0 "" nsv3531558 1 2776127 2776127 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440854 M 9 1 0 "" HG00733 nsv2802079 1 2776130 2776130 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679867 M 2 1 0 "" nsv3324254 1 2776130 2776130 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474328,nssv14473434,nssv14483767,nssv14488184,nssv14484941,nssv14484324 M 14 6 0 "" CHM1,HG00268,HG02059,HG02106,HX1,NA12878 nsv5620196 1 2776134 2776134 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064940 M 35 1 0 "" HG00732 nsv5606071 1 2776195 2776195 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064941 M 35 1 0 "" HG03683 nsv6060131 1 2779755 2779755 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533915 M 405 1 0 "" nsv6042424 1 2779800 2779800 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536147 M 405 1 0 "" esv3666573 1 2779814 2779814 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16489120 M 20 1 0 "" nsv5619450 1 2779814 2779814 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064942 M 35 1 0 "" HG02492 nsv4041098 1 2780469 2780541 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851278 M 10847 0 1 "" nsv5621695 1 2781665 2781665 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064944 M 35 1 0 "" HG02011 nsv4036871 1 2786431 2790440 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851286 M 10847 0 1 "" nsv6322048 1 2786431 2790440 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059974 M 19652 0 1 "" nsv521946 1 2787093 2789108 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694715 M 2026 0 1 "" nsv6317155 1 2788208 2802367 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059976 M 19652 0 1 "" nsv1133793 1 2789580 2789632 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969363 M 2 0 1 "" KWS2 nsv5676774 1 2789632 2789632 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17177277 M 3202 1 0 "" nsv5617927 1 2794120 2794120 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064946 M 35 1 0 "" HG03732 nsv4767559 1 2794140 2794140 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16294158 M 25 1 0 "" nsv6049854 1 2794140 2794140 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517976 M 405 1 0 "" nsv5617276 1 2794676 2794676 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064947 M 35 1 0 "" HG01114 nsv5886990 1 2794676 2794801 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17366371 M 914 1 0 "" nsv5414021 1 2794676 2794802 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901674 M 3202 1 0 "" nsv4046415 1 2794676 2794805 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963354 M 10847 1 0 "" nsv4048622 1 2806489 2806561 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851293 M 10847 0 1 "" nsv4518195 1 2809723 2810139 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851303 M 10847 0 1 "" nsv4557846 1 2811131 2812147 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789155 M 10847 0 0 "" nsv5553920 1 2811131 2812147 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901675 M 3202 0 0 "" nsv5544052 1 2811132 2811132 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901676 M 3202 1 0 "" nsv6548898 1 2811132 2812147 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252337 M 19652 0 0 "" nsv4516839 1 2812235 2813232 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851310 M 10847 0 1 "" esv2676249 1 2812693 2813200 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6584383 M 1151 0 1 "" NA18522 nsv5886154 1 2812751 2813204 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354025 M 914 0 1 "" nsv5421548 1 2812751 2813232 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901677 M 3202 0 1 "" dgv16n166 1 2812751 2813378 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4048564,nsv4047773 M 10847 0 2 "" nsv4046568 1 2812751 2813742 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851102 M 10847 0 1 "" dgv22e59 1 2812792 2814090 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3390986,esv3450928,esv3335313 M 185 3 0 "" NA19238,NA19239,NA19240 nsv5426513 1 2813204 2813287 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901678 M 3202 0 1 "" nsv5884628 1 2813548 2813617 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355982 M 914 0 1 "" esv3561537 1 2813548 2813618 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9760284 M 767 0 1 "" nsv3323558 1 2813550 2813619 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484754 M 14 0 1 "" HG02059 nsv5983576 1 2813550 2813623 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518493 M 405 0 1 "" esv3684292 1 2819027 2819250 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468940 M 20 0 1 "" nsv5611264 1 2819030 2819030 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064951 M 35 1 0 "" NA12329 nsv4733068 1 2819274 2819338 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16271258 M 25 0 1 "" nsv5616576 1 2819299 2819299 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064952 M 35 1 0 "" NA19239 esv3684317 1 2819299 2819412 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468962 M 20 0 1 "" nsv3323357 1 2819300 2819355 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485668 M 14 0 1 "" HG00268 nsv5983578 1 2819425 2819481 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531930 M 405 0 1 "" nsv4461106 1 2822687 2822688 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029849 M 10847 1 0 "" nsv5420581 1 2826473 2826542 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901679 M 3202 0 1 "" nsv1137718 1 2826511 2826596 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990219 M 2 0 1 "" KWS2 nsv5538819 1 2826561 2826579 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901688 M 3202 1 0 "" nsv5951561 1 2826612 2826612 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352212 M 914 1 0 "" dgv23e59 1 2831992 2833190 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3336132,esv3350598 M 185 2 0 "" NA19239,NA19240 nsv6321130 1 2832673 2833017 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203555 M 19652 1 0 "" nsv4730545 1 2837833 2837901 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16288160 M 25 0 1 "" nsv5578845 1 2837834 2837901 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064960 M 35 0 1 "" HG00732 nsv5882707 1 2837834 2837901 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361828 M 914 0 1 "" nsv3526017 1 2837834 2837902 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14371952,nssv14371953 M 9 0 2 "" HG00513,HG00732 nsv5983758 1 2837834 2837902 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524921 M 405 0 1 "" nsv3324257 1 2837835 2837902 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489595 M 14 0 1 "" HX1 nsv5427376 1 2837835 2837902 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901709 M 3202 0 1 "" nsv4038599 1 2837835 2837990 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851338 M 10847 0 1 "" nsv159525 1 2837836 2837903 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178103 M 24 "" nsv6052905 1 2838000 2838000 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535297 M 405 1 0 "" nsv5879965 1 2838009 2838440 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367351 M 914 0 1 "" nsv5606336 1 2838112 2838112 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064961 M 35 1 0 "" HG00731 nsv6041110 1 2838122 2838122 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523774 M 405 1 0 "" nsv3323561 1 2838176 2838176 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473259 M 14 1 0 "" NA19434 nsv3537840 1 2838226 2838226 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413502 M 9 1 0 "" HG00514 nsv6058001 1 2838232 2838232 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521567 M 405 1 0 "" nsv6055765 1 2838335 2838335 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534311 M 405 1 0 "" nsv5566430 1 2838429 2838512 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064962 M 35 0 1 "" NA19239 nsv3324258 1 2838430 2838513 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479606 M 14 0 1 "" HG02818 nsv3282967 1 2838436 2838520 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14407476 M 9 0 1 "" NA19240 nsv6047285 1 2838438 2838438 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531920 M 405 1 0 "" nsv6324787 1 2841639 2841948 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060008 M 19652 0 1 "" nsv4051837 1 2841641 2841948 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851348 M 10847 0 1 "" nsv5427946 1 2841641 2841948 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901720 M 3202 0 1 "" nsv6044835 1 2843339 2843339 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528314 M 405 1 0 "" nsv4036732 1 2843349 2843455 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963374 M 10847 1 0 "" nsv6321920 1 2843422 2843652 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060009 M 19652 0 1 "" nsv6320002 1 2847176 2848110 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060010 M 19652 0 1 "" nsv4041054 1 2847180 2848110 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851358 M 10847 0 1 "" esv3585033 1 2847963 2898365 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841901 M 2504 1 0 "" HG01063 esv3585034 1 2848661 2850131 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841902 M 2504 0 1 "" HG03803 nsv5419487 1 2848683 2850145 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901724 M 3202 0 1 "" nsv5422249 1 2849701 2849764 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901565 M 3202 1 0 "" nsv5829948 1 2852240 2855713 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468469 M 914 0 0 "" nsv5885540 1 2855005 2855062 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350565 M 914 0 1 "" dgv24e59 1 2860792 2862190 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3422535,esv3337021 M 185 2 0 "" NA19239,NA19240 nsv4742271 1 2861257 2861328 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270446 M 25 0 1 "" nsv5565741 1 2861274 2861339 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064964 M 35 0 1 "" HG02492 nsv5868487 1 2861274 2861339 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366031 M 914 0 1 "" nsv5983580 1 2861274 2861340 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525510 M 405 0 1 "" nsv4052289 1 2861281 2861340 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851366 M 10847 0 1 "" nsv4562557 1 2864653 2864654 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030797 M 10847 1 0 "" nsv4449079 1 2866089 2866236 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15761077 M 1 0 1 "" nsv3323562 1 2866090 2866187 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483523,nssv14482806,nssv14486566,nssv14477650,nssv14488918,nssv14478678,nssv14482391 M 14 0 7 "" HG00514,HG00733,HG02059,HG02818,NA12878,NA19240,NA19434 nsv3280603 1 2866090 2866188 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14433636,nssv14457555,nssv14408209 M 9 0 3 "" HG00514,HG00733,NA19240 nsv5875833 1 2866124 2866621 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353522 M 914 0 1 "" esv3684342 1 2866128 2866570 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468985 M 20 0 1 "" esv1009726 1 2866138 2866284 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577776 M 3 0 1 "" HuRef nsv5573252 1 2866138 2866284 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064966 M 35 0 1 "" HG00731 nsv3924968 1 2866138 2866285 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177620 M 1 0 1 "" HG002 nsv4734477 1 2866165 2866310 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16274626 M 25 0 1 "" nsv5983759 1 2866184 2866330 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532174 M 405 0 1 "" esv1533261 1 2866372 2866519 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4287368 M 2 0 1 "" HuRef nsv6041860 1 2866466 2866466 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518286 M 405 1 0 "" nsv5608537 1 2866474 2866474 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064967 M 35 1 0 "" NA18534 nsv5869626 1 2872902 2872955 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362100 M 914 0 1 "" nsv4461865 1 2873645 2873646 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030203 M 10847 1 0 "" nsv5679058 1 2873660 2873660 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17178524 M 3202 1 0 "" nsv5410149 1 2873660 2873711 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901567 M 3202 1 0 "" esv2132425 1 2876448 2876895 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4889243 M 1 0 1 "" NA18507 nsv1121438 1 2876495 2876558 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965438 M 2 0 1 "" KWS2 esv3109 1 2876559 2876831 CNV loss Wang_et_al_2008 18987735 Sequencing essv25550 M 1 0 1 "" YH nsv3324261 1 2876564 2876683 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472252,nssv14478300,nssv14487826,nssv14485973 M 14 0 4 "" HG00733,HG02059,HG04217,NA12878 nsv5576530 1 2876572 2876691 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064550 M 35 0 1 "" HG00731 nsv5878747 1 2876572 2876691 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358150 M 914 0 1 "" nsv3930692 1 2876572 2876692 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177635 M 1 0 1 "" HG002 esv3684378 1 2876572 2876723 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16469017 M 20 0 1 "" nsv1074094 1 2876574 2876782 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771875 M 1 0 1 "" KWP1 nsv4743576 1 2876582 2876703 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16276309 M 25 0 1 "" esv993932 1 2876594 2876713 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566726 M 3 0 1 "" HuRef nsv5983763 1 2876597 2876717 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518517 M 405 0 1 "" esv1703346 1 2876601 2876721 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3656039 M 2 0 1 "" HuRef nsv3281347 1 2876609 2876699 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14406454,nssv14461292,nssv14434075 M 9 0 3 "" HG00514,HG00733,NA19240 nsv5609179 1 2876620 2876620 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064551 M 35 1 0 "" NA19238 nsv3323565 1 2876621 2876621 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478889,nssv14482670 M 14 2 0 "" HG02059,HG02818 nsv954197 1 2876640 2876738 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000491 M 1 0 1 "" BILGI_BIOE nsv1140732 1 2876652 2876834 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992239 M 2 0 1 "" KWS1 nsv6043837 1 2876661 2876661 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532351 M 405 1 0 "" nsv3324514 1 2878096 2878096 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485478 M 14 1 0 "" NA19434 nsv1145308 1 2881743 2881813 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982399 M 2 0 1 "" KWS1 esv3672791 1 2881760 2881814 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16494715 M 20 0 1 "" nsv6333169 1 2888424 3107446 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203559 M 19652 1 0 ACTRT2,LINC00982,MIR4251,PRDM16 nsv470686 1 2889577 2984087 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547673 M 443 0 1 ACTRT2,LINC00982 HGDP00978 nsv4730803 1 2891113 2891179 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285185 M 25 0 1 "" nsv5572262 1 2891151 2891327 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064569 M 35 0 1 "" HG00732 nsv3526681 1 2891151 2891328 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389576 M 9 0 1 "" HG00732 nsv4037243 1 2891172 2891296 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851938 M 10847 0 1 "" esv3673172 1 2891173 2891284 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16495059 M 20 0 1 "" nsv3063191 1 2891190 2891257 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14035643 M 2 0 1 "" NA12878 esv2671460 1 2891195 2891328 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5773475,essv5487623,essv5476303,essv5920819,essv6329559,essv5724554 M 1151 0 6 "" HG00344,HG01497,NA18519,NA19138,NA19371,NA19428 nsv5983584 1 2891202 2891268 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524721 M 405 0 1 "" nsv5611346 1 2891212 2891212 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064570 M 35 1 0 "" HG03065 nsv3324517 1 2891213 2891213 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479529 M 14 1 0 "" NA19434 nsv5566569 1 2891217 2891282 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064571 M 35 0 1 "" HG00513 nsv5869596 1 2891217 2891282 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351519 M 914 0 1 "" nsv6048873 1 2891235 2891235 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528757 M 405 1 0 "" nsv4449080 1 2891236 2891303 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15766352 M 1 0 1 "" nsv3323570 1 2891259 2891259 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491121 M 14 1 0 "" NA19434 nsv5611263 1 2891261 2891261 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064572 M 35 1 0 "" NA19239 esv25503 1 2892794 2894919 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv21208 M 40 0 2 "" NA12006,NA18907 nsv545096 1 2892959 2894506 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708764,nssv708763 M 17421 2 0 "" nsv5885315 1 2893066 2893412 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360536 M 914 0 1 "" nsv5872081 1 2893093 2893333 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363069 M 914 0 1 "" nsv4517940 1 2893115 2893848 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963382 M 10847 1 0 "" esv3673494 1 2893116 2893788 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16495348 M 20 0 1 "" nsv5573223 1 2893149 2893412 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064573 M 35 0 1 "" HG00731 nsv3950580 1 2893149 2893413 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177658 M 1 0 1 "" HG002 nsv6058818 1 2893173 2893173 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521336 M 405 1 0 "" nsv5983989 1 2893199 2893461 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523906 M 405 0 1 "" nsv4742352 1 2893204 2893468 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259437 M 25 0 1 "" nsv6045719 1 2893332 2893332 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534522 M 405 1 0 "" nsv3935351 1 2893405 2893669 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177669 M 1 0 1 "" HG002 nsv2801819 1 2893406 2893669 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13704196 M 2 0 1 "" nsv3324518 1 2893406 2893669 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475014,nssv14491769,nssv14489738,nssv14484353,nssv14479317,nssv14478996,nssv14491720 M 14 0 7 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02818,NA12878 dgv48n152 1 2893411 2893675 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3281913,nsv3281405 M 9 0 3 "" HG00514,HG00733,NA19240 nsv5610577 1 2893412 2893412 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064574 M 35 1 0 "" HG00512 nsv3323571 1 2893414 2893414 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486474 M 14 1 0 "" HG02106 nsv3323367 1 2893414 2893532 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474530 M 14 0 1 "" HG02059 nsv3049857 1 2893492 2893754 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14021223 M 2 0 1 "" NA12878 nsv3324263 1 2893555 2893900 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475781,nssv14486910 M 14 0 2 "" HG00733,NA19434 nsv3324519 1 2893609 2893701 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490264,nssv14481901 M 14 0 2 "" HG02059,NA19240 nsv6060063 1 2893659 2893659 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520189 M 405 1 0 "" nsv3324520 1 2893667 2893667 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472237 M 14 1 0 "" HG02106 nsv3324524 1 2893730 2893789 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486796 M 14 0 1 "" HG01352 nsv5564734 1 2893767 2893868 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064580 M 35 0 1 "" HG00732 nsv6059950 1 2893936 2893936 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529750 M 405 1 0 "" nsv5983991 1 2893950 2894115 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521691 M 405 0 1 "" nsv3324265 1 2893962 2893962 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487257,nssv14489683 M 14 2 0 "" HG02106,NA19434 nsv5564557 1 2894020 2894079 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064581 M 35 0 1 "" NA19238 nsv5983992 1 2894028 2894087 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523358 M 405 0 1 "" nsv5578456 1 2894048 2894268 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064582 M 35 0 1 "" HG00732 nsv5619984 1 2894051 2894051 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064583 M 35 1 0 "" NA20847 nsv5606275 1 2894080 2894080 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064584 M 35 1 0 "" HG00731 nsv3324525 1 2894081 2894081 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480290,nssv14483746 M 14 2 0 "" HG02059,HG04217 nsv6053707 1 2894108 2894108 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537482 M 405 1 0 "" nsv5869827 1 2894251 2894517 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354951 M 914 0 1 "" esv3673964 1 2894269 2894414 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16495771 M 20 0 1 "" nsv1129126 1 2897521 2897611 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3961802 M 2 1 0 "" KWS1 nsv5870771 1 2897557 2897646 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17353472 M 914 1 0 "" nsv5618647 1 2897564 2897564 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064587 M 35 1 0 "" NA19650 nsv6042181 1 2897624 2897624 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537432 M 405 1 0 "" nsv3201592 1 2902437 2902571 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377759 M 9 0 1 "" HG00731 nsv6326238 1 2904278 2904770 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060042 M 19652 0 1 "" nsv5418748 1 2904280 2904770 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901570 M 3202 0 1 "" esv3674530 1 2905955 2906080 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16496281 M 20 0 1 "" nsv545097 1 2909170 2919222 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708765 M 17421 0 1 "" esv7294 1 2911318 2912034 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29735 M 1 0 0 "" nsv4038033 1 2911424 2911850 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851957 M 10847 0 1 "" esv4855 1 2911490 2911934 CNV loss Wang_et_al_2008 18987735 Sequencing essv27296 M 1 0 1 "" YH nsv5571977 1 2911536 2911849 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064691 M 35 0 1 "" HG00732 nsv5874813 1 2911536 2911849 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353109 M 914 0 1 "" esv2667586 1 2911536 2911850 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6584130,essv5661341,essv6009364,essv5954480,essv5476202,essv5778612,essv6358698,essv5712060,essv5997269,essv6304212,essv6499626,essv6352766,essv5915770,essv6531586,essv6444702,essv6501274,essv6150955,essv5490976,essv6484674,essv6182430,essv5584890,essv5924521,essv5480759,essv5928482,essv6462531,essv5507776,essv5725070,essv5399971,essv5637052,essv6304368,essv6250047,essv5704851,essv5574767,essv6592379,essv5771748,essv6010568,essv5639321,essv6303278,essv6453170,essv5461812,essv6139442,essv6283295,essv5431123,essv5824283,essv5614234,essv6003240,essv5636136,essv5731720,essv6416709,essv5558327,essv6223844,essv5717642,essv6359035,essv6087893,essv5691096,essv5432275,essv5684112,essv6474145,essv5701034,essv5869052,essv5714971,essv5755211,essv5465497,essv5539004,essv6577574,essv5489245,essv5656032,essv5742756,essv6112486,essv6357511,essv5827690,essv5634505,essv6583551,essv5831713,essv6507030,essv5647681,essv6193962,essv6414549,essv6025859,essv5843227,essv5522718,essv5597447,essv6426326,essv6453260,essv6525387,essv5673315,essv6282586,essv5489110,essv5500985,essv5965560,essv5428152,essv5551330,essv5951358,essv6533516,essv6409577,essv5913453,essv5458624,essv6570143,essv6178908,essv6360480,essv5642484,essv6192928,essv5895777,essv5435381,essv5719282,essv5761784,essv6366191,essv6083586,essv5447805,essv6287666,essv5577290,essv5741322,essv5688414,essv6503607,essv5786723,essv6508860,essv6107651,essv6047266,essv6501835,essv5443311,essv5866133,essv6069551,essv6138939,essv6427320,essv6079485,essv5841860,essv6124221,essv5671053,essv6232842,essv5708654,essv5800077,essv5945472,essv6452183,essv5575340,essv5726003,essv5685298,essv6546084,essv5997070,essv5708533,essv5918835,essv5995042,essv5774344,essv5778284,essv5600500,essv6248812,essv5404463,essv6123083,essv6129225,essv5699555,essv6023067,essv5893770,essv6056868,essv6277988,essv6164704,essv6028850,essv6557510,essv5592265,essv6089632,essv5979194,essv5522431,essv6174985,essv6059706,essv6476173,essv5624718,essv6503602,essv6020974,essv6096167,essv6090651,essv5878194,essv6535176,essv5865000,essv6371236,essv6494449,essv5720133,essv5910785,essv6382314,essv6567597,essv6181482,essv5719839,essv6276334,essv5612072,essv5935603,essv5614898,essv5729242,essv6178123,essv6288601,essv5414557,essv5898796,essv6166535,essv5672362,essv5572191,essv6081983,essv5929348,essv5944221,essv6453878,essv6289495,essv5691787,essv6496407,essv6316689,essv6500485,essv6365732,essv6059076,essv5509926,essv5697903,essv6075567,essv6451584,essv6548915,essv5629229,essv6195869,essv6231796,essv6062470,essv6393805,essv6188176,essv6390650,essv6153588,essv6540235,essv6088168,essv6589446,essv6208177,essv5530400,essv5957593,essv6329132,essv5433339,essv5633640,essv5985580,essv5529389,essv5677856,essv6576278,essv5792620,essv6097870,essv6302425,essv5856474,essv6374716,essv5788490,essv5777985,essv5803288,essv6430296,essv5982590,essv5486533,essv5907508,essv6282062,essv5758043,essv5435936,essv5855943,essv6325314,essv6418922,essv5504884,essv6158664,essv6320529,essv5589478,essv5536256,essv6488904,essv5891034,essv5912479,essv5965992,essv6074675,essv6500333,essv6057477,essv6386009,essv6061978,essv5893861,essv6103358,essv5996953,essv6455860,essv5531187,essv6041414,essv6471882,essv6200401,essv6278895,essv6215307,essv6567925,essv5474192,essv6141935,essv5429758,essv5921357,essv6029670,essv6085222,essv6124274,essv5447744,essv6496876,essv5693233,essv6289370,essv6027374,essv6511759,essv6472809,essv6505896,essv6370344,essv5572810,essv6407852,essv5514647,essv5580301,essv6324571,essv5599481,essv6560103,essv6017543,essv5469348,essv5642245,essv5994376,essv6043574,essv6424164,essv6448555,essv5432906,essv5717384,essv5857475,essv5673991,essv5750076,essv5778444,essv6382925,essv6320741,essv5502157,essv5875505,essv6150690,essv5650561,essv5896668,essv6285915,essv6517932,essv6239650,essv5543551,essv5912437,essv6386313,essv5906920,essv5962761,essv5643554,essv5596378,essv6016530,essv6079552,essv5929203,essv6345432,essv6425321,essv6444118,essv6028525,essv6296610,essv5701686,essv5557036,essv6459210,essv5447486,essv5414063,essv5858963,essv6135267,essv5647612,essv5969130,essv6423304,essv5490928,essv5899267,essv6303811,essv5826988,essv5856810,essv5477946,essv5966983,essv6071298,essv5599535,essv5512415,essv5553306,essv6286314,essv5716623,essv6347902,essv6233318,essv6427134,essv6304341,essv5752055,essv6594821,essv5469481,essv5454994,essv6568335,essv6553706,essv6240356,essv6051652,essv6064594,essv5890825,essv5794795,essv6390027,essv6435010,essv6474271,essv6120270,essv6035403,essv5631767,essv5904263,essv5554599,essv6455744,essv6566499,essv5564212 M 1151 0 381 "" HG00137,HG00140,HG00154,HG00159,HG00179,HG00237,HG00249,HG00252,HG00254,HG00258,HG00271,HG00285,HG00313,HG00335,HG00345,HG00373,HG00421,HG00436,HG00437,HG00442,HG00448,HG00449,HG00472,HG00475,HG00476,HG00478,HG00479,HG00512,HG00524,HG00525,HG00531,HG00533,HG00534,HG00542,HG00543,HG00557,HG00566,HG00583,HG00590,HG00608,HG00610,HG00625,HG00628,HG00629,HG00654,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00699,HG00705,HG00707,HG00708,HG00732,HG00734,HG00736,HG01069,HG01075,HG01079,HG01083,HG01101,HG01108,HG01167,HG01170,HG01190,HG01204,HG01254,HG01334,HG01350,HG01351,HG01354,HG01357,HG01360,HG01366,HG01374,HG01378,HG01384,HG01465,HG01488,HG01491,HG01515,NA06986,NA06994,NA07048,NA07347,NA11829,NA11830,NA11831,NA11894,NA11918,NA11920,NA11933,NA11994,NA12043,NA12155,NA12249,NA12282,NA12287,NA12348,NA12383,NA12414,NA12489,NA12716,NA12717,NA12750,NA12761,NA12776,NA12813,NA12827,NA12878,NA12891,NA18488,NA18498,NA18502,NA18504,NA18505,NA18508,NA18510,NA18516,NA18517,NA18520,NA18523,NA18526,NA18530,NA18532,NA18534,NA18537,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18555,NA18557,NA18558,NA18559,NA18560,NA18561,NA18562,NA18563,NA18564,NA18566,NA18572,NA18573,NA18574,NA18577,NA18579,NA18582,NA18592,NA18596,NA18597,NA18599,NA18603,NA18605,NA18606,NA18608,NA18609,NA18611,NA18612,NA18613,NA18614,NA18615,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18627,NA18630,NA18632,NA18634,NA18853,NA18856,NA18858,NA18861,NA18868,NA18870,NA18907,NA18909,NA18910,NA18916,NA18917,NA18924,NA18940,NA18941,NA18942,NA18944,NA18945,NA18947,NA18951,NA18953,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18981,NA18982,NA18985,NA18986,NA18987,NA18990,NA18991,NA19005,NA19010,NA19054,NA19055,NA19065,NA19066,NA19072,NA19098,NA19099,NA19102,NA19107,NA19108,NA19114,NA19119,NA19129,NA19130,NA19131,NA19138,NA19144,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19201,NA19204,NA19207,NA19209,NA19210,NA19223,NA19236,NA19238,NA19239,NA19240,NA19257,NA19311,NA19312,NA19313,NA19316,NA19318,NA19319,NA19321,NA19327,NA19328,NA19331,NA19332,NA19334,NA19338,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19401,NA19403,NA19404,NA19428,NA19429,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19457,NA19461,NA19466,NA19467,NA19468,NA19469,NA19471,NA19472,NA19473,NA19474,NA19625,NA19654,NA19663,NA19670,NA19700,NA19701,NA19703,NA19704,NA19711,NA19712,NA19713,NA19716,NA19720,NA19722,NA19726,NA19732,NA19747,NA19776,NA19779,NA19780,NA19782,NA19818,NA19834,NA19835,NA19909,NA19914,NA19917,NA19920,NA19982,NA19985,NA20127,NA20276,NA20282,NA20287,NA20291,NA20317,NA20356,NA20507,NA20525,NA20529,NA20534,NA20536,NA20537,NA20585,NA20756,NA20765,NA20774,NA20796 nsv1126967 1 2911536 2911850 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985254 M 2 0 1 "" KWS1 nsv5983907 1 2911536 2911850 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522880 M 405 0 1 "" dgv49n152 1 2911536 2911851 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3524455,nsv3178036 M 9 0 7 "" HG00512,HG00514,HG00732,HG00733,NA19238,NA19239,NA19240 esv3561870 1 2911536 2911875 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9760617 M 767 0 1 "" nsv4390825 1 2911537 2911850 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15706893 M 174 0 1 "" nsv3323575 1 2911538 2911851 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14483663,nssv14481219,nssv14473348,nssv14484316,nssv14473558,nssv14482909,nssv14490744 M 14 0 7 "" HG00514,HG01352,HG02106,HG02818,HX1,NA12878,NA19240 nsv4748409 1 2911545 2911859 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16274900 M 25 0 1 "" nsv5432603 1 2911548 2911850 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901571 M 3202 0 1 "" nsv6335042 1 2911548 2911850 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060047 M 19652 0 1 "" nsv1146929 1 2911551 2911860 CNV deletion John_et_al_2014 26484159 Sequencing nssv3998289 M 1 0 1 "" KWB1 nsv4048247 1 2914009 2914063 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851965 M 10847 0 1 "" nsv3537971 1 2914270 2914270 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389831 M 9 1 0 "" NA19240 nsv3208444 1 2914270 2914384 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390592,nssv14383891,nssv14380923 M 9 3 0 "" HG00732,NA19239,NA19240 nsv5618377 1 2914288 2914288 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064692 M 35 1 0 "" HG00732 nsv3323369 1 2914292 2914292 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473083 M 14 1 0 "" NA19240 nsv5950013 1 2914299 2914299 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17368402 M 914 1 0 "" nsv3531182 1 2914305 2914305 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383238 M 9 1 0 "" NA19240 nsv5608349 1 2914305 2914305 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064693 M 35 1 0 "" NA19240 esv3577701 1 2914391 2932446 CNV loss Uddin_et_al_2014 25503493 SNP array essv9783755 M 873 0 1 "" 402060PD nsv951958 1 2916601 2957300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2998367 M 1 0 1 ACTRT2 BILGI_BIOE nsv5577243 1 2918596 2918675 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064694 M 35 0 1 "" HG00512 dgv50n152 1 2918596 2918682 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282711,nsv3192415 M 9 0 2 "" HG00512,HG00514 nsv3323576 1 2918597 2918676 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473460 M 14 0 1 "" HG00514 nsv5983996 1 2918606 2918686 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522076 M 405 0 1 "" esv3585035 1 2918659 2919946 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841903 M 2504 0 1 "" HG01124 nsv5421392 1 2918663 2919912 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901572 M 3202 0 1 "" nsv6323271 1 2918663 2919912 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060051 M 19652 0 1 "" esv2667684 1 2918672 2919955 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6361039 M 1151 0 1 "" HG01124 nsv4050760 1 2918896 2919366 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851973 M 10847 0 1 "" nsv4745922 1 2919030 2919365 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259520 M 25 0 1 "" nsv5572587 1 2919031 2919365 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064695 M 35 0 1 "" HG00732 nsv5876224 1 2919031 2919365 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356455 M 914 0 1 "" esv2670784 1 2919031 2919366 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6311507,essv5504364,essv6300416,essv5676796,essv5880202,essv5718031,essv5431264,essv5695235,essv5438938,essv5683127,essv6406995,essv6588504,essv6272950,essv6496957,essv6229658,essv6221677,essv5552976,essv6090818,essv6010515,essv5948208,essv6191912,essv5757246,essv5602371,essv5699689,essv6077957,essv5865350,essv6175610,essv6200508,essv6192468,essv6525071,essv5994927,essv5670266,essv6097296,essv5707531,essv6046184,essv5411894,essv6333025,essv5749032,essv6527558,essv5688894,essv5404440,essv6578743,essv6461755,essv6478079,essv5451855,essv5489446,essv6383875,essv6582473,essv6473198,essv5573415,essv5658732,essv5813093,essv6395209,essv5605448,essv6509575,essv5984772,essv6391995,essv5938283,essv6522160,essv5919493,essv6441578,essv6545117,essv6197085,essv6183062,essv5950451,essv5516011,essv5436797,essv6392009,essv5626515,essv5485071,essv6467509,essv5749338,essv6488384,essv5838156,essv5767237,essv5608294,essv6287300,essv5707701,essv6429478,essv5768297,essv5513115,essv6465566,essv5676123,essv5593902,essv5743002,essv5625343,essv6072478,essv6319932,essv5968624,essv6231333,essv5397498,essv5946869,essv5729104,essv5422458,essv6108901,essv5430982,essv5455553,essv5502367,essv5802399,essv6213795,essv6252438,essv5656248,essv5645942,essv5980229,essv6567166,essv6092954,essv6006306,essv5588588,essv5845033,essv5910984,essv5466216,essv5888783,essv6248609,essv5884558,essv6544689,essv6320765,essv6530854,essv6286225,essv5776747,essv6022989,essv6125588,essv5500108,essv5543768,essv6097660,essv5843000,essv6378956,essv6290344,essv5882249,essv6098192,essv6255770,essv5402798,essv6149007,essv6408277,essv6502250,essv5475936,essv6504886,essv6463619,essv5753674,essv5941668,essv6293425,essv6071774,essv6251529,essv6356611,essv5725435,essv6246125,essv5756825,essv5609848,essv6216524,essv6298250,essv6473788,essv5805781,essv6287272,essv6446882,essv6057669,essv5695368,essv5396024,essv6013512,essv5832535,essv5815156 M 1151 0 159 "" HG00098,HG00122,HG00137,HG00140,HG00148,HG00154,HG00159,HG00187,HG00237,HG00249,HG00252,HG00254,HG00285,HG00313,HG00335,HG00345,HG00361,HG00373,HG00421,HG00442,HG00476,HG00478,HG00512,HG00524,HG00525,HG00531,HG00533,HG00542,HG00557,HG00560,HG00592,HG00608,HG00611,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00692,HG00707,HG00708,HG01079,HG01083,HG01101,HG01112,HG01188,HG01204,HG01334,HG01351,HG01354,HG01357,HG01365,HG01366,HG01378,HG01488,HG01497,NA06986,NA11894,NA11918,NA11920,NA11933,NA12043,NA12046,NA12155,NA12249,NA12282,NA12348,NA12383,NA12489,NA12716,NA12750,NA12827,NA12878,NA12891,NA18532,NA18534,NA18537,NA18541,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18552,NA18555,NA18557,NA18560,NA18563,NA18564,NA18572,NA18573,NA18579,NA18597,NA18605,NA18606,NA18608,NA18609,NA18611,NA18612,NA18617,NA18619,NA18621,NA18622,NA18623,NA18624,NA18627,NA18628,NA18630,NA18632,NA18940,NA18943,NA18945,NA18947,NA18951,NA18953,NA18959,NA18964,NA18973,NA18983,NA18984,NA18986,NA19009,NA19057,NA19063,NA19065,NA19066,NA19072,NA19075,NA19080,NA19654,NA19663,NA19664,NA19720,NA19726,NA19731,NA19732,NA19746,NA19759,NA19771,NA19776,NA19779,NA19782,NA19783,NA19788,NA19914,NA20507,NA20525,NA20529,NA20537,NA20585,NA20756,NA20765,NA20771,NA20772,NA20786,NA20796 nsv1145309 1 2919031 2919366 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982400 M 2 0 1 "" KWS1 nsv3525621 1 2919031 2919366 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376148,nssv14388475,nssv14378939 M 9 0 3 "" HG00512,HG00732,HG00733 nsv5983997 1 2919031 2919366 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531519 M 405 0 1 "" esv3561981 1 2919031 2919380 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9760728 M 767 0 1 "" nsv4390826 1 2919032 2919366 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15707004 M 174 0 1 "" nsv3243563 1 2919032 2919367 CNV mobile element deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14452877 M 9 0 1 "" HG00733 nsv3323577 1 2919033 2919368 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14793486,nssv14808150 M 14 0 2 "" HG02106,NA12878 nsv5414775 1 2919034 2919366 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901573 M 3202 0 1 "" nsv6316097 1 2919034 2919366 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060052 M 19652 0 1 "" esv3585036 1 2920631 3005757 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841904 M 2504 1 0 ACTRT2,LINC00982,PRDM16 HG01063 nsv6317279 1 2921554 3313349 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203562 M 19652 1 0 ACTRT2,LINC00982,MIR4251,PRDM16 nsv1013792 1 2921860 3308288 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477002 M 11257 1 0 ACTRT2,LINC00982,MIR4251,PRDM16 nsv829759 1 2923149 3011137 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1450850,nssv1450961 M 95 0 2 ACTRT2,LINC00982,PRDM16 nsv545098 1 2926379 3006131 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708766 M 17421 0 1 ACTRT2,LINC00982,PRDM16 dgv51n152 1 2931358 2945047 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3229124,nsv3210533 M 9 3 0 ACTRT2 HG00512,HG00731,NA19238 esv1972331 1 2932833 2933235 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4751842 M 1 0 1 "" NA18507 esv3675026 1 2932941 2933045 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16496727 M 20 0 1 "" nsv3281009 1 2932948 2933051 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14453383,nssv14408372,nssv14432948 M 9 0 3 "" HG00514,HG00733,NA19240 nsv3324528 1 2932955 2933057 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479427,nssv14486963,nssv14486412,nssv14483664,nssv14489676 M 14 0 5 "" HG00514,HG00733,HG02106,NA12878,NA19240 esv2667710 1 2932976 2933125 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5804538,essv6104804,essv5410465,essv6360948,essv5786327,essv6075789,essv6207197,essv6038826,essv5519747,essv5431062,essv5873465,essv6031525,essv5688099,essv6311064,essv5869163,essv5500314,essv6092048,essv6538483,essv6046485,essv6571961,essv6369709,essv5795985,essv6212539,essv6540364,essv6187649,essv5783089,essv6400467,essv6398348,essv6112223,essv6174015,essv6542912,essv5438563,essv6366811,essv5663561,essv5581092,essv5564448,essv6371418,essv5870910,essv5398100 M 1151 0 39 "" HG00442,HG00449,HG00513,HG00581,HG00683,HG00699,HG01334,HG01350,HG01366,HG01498,NA12827,NA18505,NA18526,NA18545,NA18546,NA18559,NA18566,NA18570,NA18573,NA18605,NA18606,NA18611,NA18612,NA18621,NA18622,NA19114,NA19138,NA19190,NA19225,NA19374,NA19382,NA19383,NA19391,NA19395,NA20278,NA20281,NA20299,NA20341,NA20356 nsv6059520 1 2933030 2933030 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520550 M 405 1 0 "" nsv5546383 1 2933033 2933095 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901574 M 3202 1 0 "" nsv3281238 1 2933033 2933138 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14434644 M 9 0 1 "" HG00514 nsv5619384 1 2933051 2933051 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064971 M 35 1 0 "" HG00512 nsv4761666 1 2933115 2933115 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16293057 M 25 1 0 "" nsv4731036 1 2933115 2933661 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16282948 M 25 1 0 "" nsv3535705 1 2933208 2933208 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379199 M 9 1 0 "" NA19240 nsv3535219 1 2933247 2933247 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373616,nssv14372896 M 9 1 0 "" NA19240 nsv3945423 1 2933247 2933247 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187041 M 1 1 0 "" HG002 nsv5607406 1 2933247 2933247 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064972 M 35 1 0 "" HG00732 nsv3539745 1 2933250 2933250 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440855,nssv14413503 M 9 2 0 "" HG00514,HG00733 nsv5605629 1 2933250 2933250 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064973 M 35 1 0 "" HG00731 nsv5948946 1 2933250 2933250 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350473 M 914 1 0 "" nsv2801914 1 2933251 2933251 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693209 M 2 1 0 "" nsv3323370 1 2933251 2933251 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480469,nssv14481257,nssv14476604,nssv14477412,nssv14483397,nssv14483111,nssv14481982,nssv14483095,nssv14481327,nssv14478923,nssv14484354,nssv14484451,nssv14478826 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 nsv6054074 1 2933251 2933251 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534977 M 405 1 0 "" nsv1155303 1 2935016 3212946 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4012203 M 131 1 0 ACTRT2,LINC00982,MIR4251,PRDM16 esv3585037 1 2937832 2979482 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841905 M 2504 1 0 ACTRT2,LINC00982 HG01063 esv2494725 1 2942135 2943124 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5336919 M 1 1 0 "" NA18507 esv3415692 1 2942192 2943290 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692284 M 185 1 0 "" NA19240 nsv3542984 1 2942460 2942460 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440856 M 9 1 0 "" HG00733 nsv3193854 1 2942460 2942565 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385951,nssv14392543,nssv14378690 M 9 3 0 "" HG00512,HG00732,HG00733 nsv6332010 1 2942473 2943035 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203566 M 19652 1 0 "" nsv1144340 1 2942535 2942602 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995086 M 2 0 1 "" KWS1 nsv1125449 1 2942548 2942607 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983623 M 2 1 0 "" KWS2 nsv3538716 1 2942579 2942579 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413504 M 9 1 0 "" HG00514 nsv4755306 1 2942586 2942586 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16292096 M 25 1 0 "" esv3667023 1 2942602 2942602 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16489524 M 20 1 0 "" nsv3536285 1 2942602 2942602 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377924,nssv14440857 M 9 2 0 "" HG00733,NA19240 nsv3937423 1 2942602 2942602 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187076 M 1 1 0 "" HG002 nsv5540521 1 2942602 2942602 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901593 M 3202 1 0 "" nsv5611135 1 2942602 2942602 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064977 M 35 1 0 "" HG00731 nsv5954389 1 2942602 2942602 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354251 M 914 1 0 "" nsv6047302 1 2942602 2942602 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523477 M 405 1 0 "" nsv2801822 1 2942603 2942603 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13704858 M 2 1 0 "" nsv3324269 1 2942603 2942603 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491531,nssv14472743,nssv14474221,nssv14473544,nssv14474241,nssv14478874,nssv14488401,nssv14485261,nssv14483608,nssv14488479,nssv14485487,nssv14483392,nssv14481999,nssv14482014 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3058855 1 2942608 2942608 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029676 M 2 1 0 "" CHM1 esv3667034 1 2942644 2942644 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16489534 M 20 1 0 "" nsv5622140 1 2943139 2943139 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064978 M 35 1 0 "" HG00864 nsv5983813 1 2945700 2945763 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526024 M 405 0 1 "" nsv5581941 1 2945718 2945781 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064980 M 35 0 1 "" HG00732 nsv5983910 1 2945740 2945814 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534414 M 405 0 1 "" nsv5619161 1 2945784 2945784 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064981 M 35 1 0 "" NA12329 esv3681130 1 2945839 2945905 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16502221 M 20 0 0 "" nsv5983770 1 2945857 2945923 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531736 M 405 0 1 "" nsv5983771 1 2945909 2945972 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522779 M 405 0 1 "" nsv5983999 1 2945922 2946052 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524579 M 405 0 1 "" nsv4322169 1 2946981 2946982 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789163 M 10847 0 0 "" nsv1000306 1 2947704 3080940 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465345 M 11257 1 0 LINC00982,MIR4251,PRDM16 nsv1132818 1 2954294 2954363 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987611 M 2 1 0 "" KWS1 nsv4759590 1 2954309 2954309 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284458 M 25 1 0 "" nsv5867745 1 2954314 2954384 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351425 M 914 0 1 "" nsv3064114 1 2954326 2954326 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034751 M 2 1 0 "" NA12878 esv3684869 1 2954348 2954348 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16469459 M 20 1 0 "" nsv3951809 1 2954348 2954348 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15186650 M 1 1 0 "" HG002 nsv4443990 1 2954348 2954348 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762642 M 1 1 0 "" nsv5611037 1 2954348 2954348 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064989 M 35 1 0 "" HG00732 nsv5876176 1 2954348 2954418 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17356213 M 914 1 0 "" dgv52n152 1 2954348 2954419 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3177726,nsv3177882 M 9 0 0 "" HG00514,HG00733,NA19240 nsv3323578 1 2954349 2954349 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476880,nssv14485971,nssv14480760,nssv14479909 M 14 4 0 "" HG00514,HG02106,HX1,NA19240 nsv6041459 1 2954367 2954367 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535319 M 405 1 0 "" nsv4535602 1 2959183 2959184 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030883 M 10847 1 0 "" nsv4758807 1 2959185 2959185 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16259755 M 25 1 0 "" esv3684936 1 2959216 2959216 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16469519 M 20 1 0 "" nsv3561816 1 2959216 2959216 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391399 M 9 1 0 "" HG00513 nsv3934460 1 2959216 2959216 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15186655 M 1 1 0 "" HG002 nsv4444317 1 2959216 2959216 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15758204 M 1 1 0 "" nsv5618478 1 2959216 2959216 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064994 M 35 1 0 "" HG00732 nsv6054168 1 2959216 2959216 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530649 M 405 1 0 "" nsv3056155 1 2959218 2959218 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14023895 M 2 1 0 "" NA12878 nsv160478 1 2959267 2959267 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179056 M 24 "" nsv5953430 1 2962763 2962763 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357311 M 914 1 0 "" nsv951959 1 2967601 3728600 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2999006 M 1 0 1 ARHGEF16,CCDC27,LINC00982,LRRC47,MEGF6,MIR4251,MIR551A,PRDM16,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 BILGI_BIOE nsv5983815 1 2967918 2968416 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536106 M 405 0 1 "" nsv4537307 1 2972913 2972914 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030973 M 10847 1 0 "" nsv4461344 1 2973818 2973819 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030566 M 10847 1 0 "" nsv824697 1 2975857 2994712 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426367 M 31 1 0 LINC00982,PRDM16 AK6 nsv5829832 1 2977732 2980161 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464463 M 914 0 0 LINC00982 nsv1076898 1 2985799 2987400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762113 M 1 0 1 PRDM16 KWP1 nsv1121743 1 2985900 2986400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968393 M 2 0 1 PRDM16 KWS2 nsv1142739 1 2986700 2987400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994238 M 2 0 1 PRDM16 KWS1 nsv4329450 1 2988393 3145676 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789172 M 10847 0 0 MIR4251,PRDM16 nsv545099 1 2993638 3055876 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172587 M 17421 0 1 MIR4251,PRDM16 1780862275_A dgv6e212 1 3003476 3021395 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577703,esv3577702 M 873 0 10 PRDM16 400241CP,40031BA,400439IM,400523GB,400793BR,400836LK,401025SM,401390DG,401459HF,401733CG nsv3171227 1 3005689 3006069 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413507 M 9 0 0 PRDM16 HG00514 esv3585038 1 3009447 3137148 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841906 M 2504 1 0 MIR4251,PRDM16 HG01063 nsv4461117 1 3011874 3011875 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030661 M 10847 1 0 PRDM16 nsv5409306 1 3011887 3011887 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902573 M 3202 1 0 PRDM16 nsv5620560 1 3011887 3011887 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065020 M 35 1 0 PRDM16 HG03065 nsv5689940 1 3011887 3011887 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203574,nssv17181960 M 3202 2 0 PRDM16 nsv5963495 1 3011887 3011887 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17362931 M 914 1 0 PRDM16 nsv4760214 1 3021141 3021141 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295038 M 25 1 0 PRDM16 esv3667091 1 3021145 3021145 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16489586 M 20 1 0 PRDM16 nsv3561691 1 3021145 3021145 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378139,nssv14381514,nssv14390276,nssv14379475,nssv14389957,nssv14377259 M 9 6 0 PRDM16 HG00512,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5624048 1 3021145 3021145 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065022 M 35 1 0 PRDM16 HG00732 nsv5967297 1 3021145 3021145 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17364266 M 914 1 0 PRDM16 nsv6058887 1 3021145 3021145 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537095 M 405 1 0 PRDM16 nsv4284357 1 3021145 3021146 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028216 M 10847 1 0 PRDM16 nsv3179020 1 3021145 3021227 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440859,nssv14384644 M 9 0 0 PRDM16 HG00733,NA19240 nsv2801919 1 3021146 3021146 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677397 M 2 1 0 PRDM16 nsv3323395 1 3021146 3021146 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483551,nssv14489006,nssv14478464,nssv14488326,nssv14484827 M 14 5 0 PRDM16 CHM1,HG01352,HG04217,HX1,NA19240 nsv3056803 1 3021147 3021147 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019485 M 2 1 0 PRDM16 CHM1 nsv4034823 1 3021604 3021731 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851980 M 10847 0 1 PRDM16 nsv5578477 1 3026940 3027018 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065024 M 35 0 1 PRDM16 HG00732 esv3675426 1 3026940 3027020 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497088 M 20 0 1 PRDM16 nsv4744602 1 3026944 3027025 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16294676 M 25 0 1 PRDM16 nsv3323396 1 3026945 3027024 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481969,nssv14489708 M 14 0 2 PRDM16 HG04217,NA12878 nsv3282267 1 3026947 3027027 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14406537 M 9 0 1 PRDM16 NA19240 nsv5983918 1 3026978 3027056 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517946 M 405 0 1 PRDM16 nsv1133794 1 3030941 3030996 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995087,nssv3990220 M 2 0 2 PRDM16 KWS1,KWS2 nsv5565722 1 3030964 3031018 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064592 M 35 0 1 PRDM16 NA19238 dgv53n152 1 3030964 3031020 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280486,nsv3191867 M 9 0 2 PRDM16 NA19238,NA19240 nsv3324540 1 3030968 3031019 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490305,nssv14484617 M 14 0 2 PRDM16 HG01352,NA19240 nsv6324325 1 3032163 3033091 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060369 M 19652 0 1 PRDM16 nsv5562510 1 3033205 3033290 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902600 M 3202 0 0 PRDM16 nsv4052167 1 3036508 3055273 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962751 M 10847 1 0 MIR4251,PRDM16 nsv6320692 1 3043297 3045269 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060379 M 19652 0 1 MIR4251,PRDM16 nsv4314266 1 3045506 3046277 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789181 M 10847 0 0 PRDM16 nsv4045176 1 3050769 3051011 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851991 M 10847 0 1 PRDM16 esv3363327 1 3053452 3053452 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8824118 M 185 1 0 PRDM16 NA12878 nsv4045413 1 3058536 3058601 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962759 M 10847 1 0 PRDM16 nsv457884 1 3062361 3104630 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv534983 M 1557 0 1 PRDM16 HGDP01234 nsv545100 1 3062361 3104630 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172588 M 17421 0 1 PRDM16 HGDP01234 nsv5573733 1 3062996 3063418 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065109 M 35 0 1 PRDM16 HG01505 nsv5876852 1 3062996 3063418 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374330 M 914 0 1 PRDM16 esv3562426 1 3062996 3063463 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9761173 M 767 0 1 PRDM16 esv2664338 1 3062996 3063479 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6381855 M 1151 0 1 PRDM16 NA12287 esv2676112 1 3063031 3063348 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5572598,essv5787793,essv5787724,essv6514533,essv5839364,essv6197856,essv6446228,essv5955277 M 1151 0 8 PRDM16 HG01441,NA11843,NA19172,NA19189,NA19443,NA19453,NA19470,NA20797 nsv5416906 1 3063033 3063420 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902601 M 3202 0 1 PRDM16 nsv5887212 1 3063073 3063278 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382756 M 914 0 1 PRDM16 nsv3324287 1 3063075 3063280 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487970 M 14 0 1 PRDM16 NA19434 nsv4739404 1 3063403 3063554 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16290295 M 25 0 1 PRDM16 nsv5565041 1 3063479 3063599 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065110 M 35 0 1 PRDM16 NA20847 nsv5983925 1 3063480 3063605 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526512 M 405 0 1 PRDM16 esv2665020 1 3063483 3063603 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5507240,essv5787323,essv5458481,essv5541041,essv6558192,essv6163417,essv6234778,essv6030097,essv5599691,essv5580727,essv6173071,essv6442376,essv5403763,essv6022081,essv6159727,essv5812738,essv6116403,essv6165957,essv5502467,essv5723740,essv5559955 M 1151 0 21 PRDM16 HG00327,HG00335,HG00473,HG00531,HG00581,HG00583,HG00607,HG00654,HG00657,HG00662,HG00683,HG00702,HG00705,NA18547,NA18562,NA18595,NA18610,NA18611,NA18623,NA18949,NA19002 nsv5875057 1 3064899 3064954 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17382558 M 914 1 0 PRDM16 nsv5622482 1 3067435 3067435 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065114 M 35 1 0 PRDM16 NA19239 nsv4731795 1 3067441 3067499 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16267639 M 25 0 1 PRDM16 nsv3534686 1 3067446 3067446 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384840 M 9 1 0 PRDM16 NA19240 nsv5565663 1 3067521 3067576 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065115 M 35 0 1 PRDM16 NA20847 nsv5984011 1 3067521 3067579 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529736 M 405 0 1 PRDM16 nsv3533698 1 3067553 3067553 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391085 M 9 1 0 PRDM16 NA19240 nsv4051370 1 3073303 3075228 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852018 M 10847 0 1 PRDM16 nsv3537915 1 3073372 3073372 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413508 M 9 1 0 PRDM16 HG00514 nsv3227869 1 3073372 3086536 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267503,nssv14267504,nssv14267502 M 9 3 0 PRDM16 HG00513,HG00514,NA19239 nsv3215795 1 3073372 3103633 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259499,nssv14259495,nssv14259497,nssv14259500,nssv14259498,nssv14259496 M 9 6 0 PRDM16 HG00514,HG00731,HG00732,HG00733,NA19238,NA19240 esv3382615 1 3079292 3079990 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692291 M 185 1 0 PRDM16 NA19239 nsv5830287 1 3079363 3082410 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450222 M 914 0 0 PRDM16 nsv2801186 1 3079417 3079417 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683323,nssv13685072 M 2 2 0 PRDM16 nsv3323402 1 3079417 3079417 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487873,nssv14488836,nssv14483698,nssv14478541,nssv14473841,nssv14480250,nssv14473998 M 14 7 0 PRDM16 CHM1,CHM13,HG00268,HG00514,HG02059,HX1,NA19434 nsv5615761 1 3079425 3079425 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065122 M 35 1 0 PRDM16 HG00732 nsv5983788 1 3079426 3079899 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17532121 M 405 1 0 PRDM16 nsv5571701 1 3079469 3079568 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065123 M 35 0 1 PRDM16 NA18939 nsv5983827 1 3079469 3079569 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519077 M 405 0 1 PRDM16 esv3675469 1 3079469 3079618 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497126 M 20 0 1 PRDM16 nsv5610262 1 3079471 3079471 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065124 M 35 1 0 PRDM16 NA18534 nsv5604668 1 3079501 3079501 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065125 M 35 1 0 PRDM16 HG00731 nsv3323403 1 3079522 3079522 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486317,nssv14485862 M 14 2 0 PRDM16 HG00268,HG00733 nsv3540767 1 3079525 3079525 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440860 M 9 1 0 PRDM16 HG00733 esv3675516 1 3079617 3079906 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497169 M 20 0 1 PRDM16 nsv3189832 1 3079665 3079748 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413509 M 9 0 0 PRDM16 HG00514 nsv3323404 1 3079694 3079694 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482860,nssv14473569,nssv14482999,nssv14476204 M 14 4 0 PRDM16 HG00268,HG00733,HG02059,NA19434 nsv3538290 1 3079717 3079717 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440861,nssv14413510 M 9 2 0 PRDM16 HG00514,HG00733 nsv5610675 1 3079789 3079789 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064706 M 35 1 0 PRDM16 NA20509 nsv5622281 1 3079807 3079807 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064707 M 35 1 0 PRDM16 NA20847 nsv3536356 1 3079813 3079813 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413511 M 9 1 0 PRDM16 HG00514 nsv3541936 1 3079878 3079878 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413512 M 9 1 0 PRDM16 HG00514 nsv2802094 1 3079885 3079885 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13698198 M 2 1 0 PRDM16 nsv3324289 1 3079885 3079885 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478963,nssv14480306,nssv14477337,nssv14478336,nssv14484231 M 14 5 0 PRDM16 CHM1,CHM13,HG02059,HX1,NA19434 nsv5605290 1 3079885 3079885 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064708 M 35 1 0 PRDM16 HG03486 nsv6042032 1 3079885 3079885 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517705 M 405 1 0 PRDM16 nsv3324549 1 3079905 3079905 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481011,nssv14473944,nssv14489714 M 14 3 0 PRDM16 HG00514,HG02059,HG02818 esv22935 1 3081707 3082806 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv20220 M 40 5 0 PRDM16 NA07037,NA12004,NA12828,NA18523,NA19240 nsv5885504 1 3081761 3081880 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381181 M 914 0 1 PRDM16 nsv4037803 1 3081812 3082232 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962769 M 10847 1 0 PRDM16 nsv5984013 1 3081815 3081902 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532619 M 405 0 1 PRDM16 nsv6049866 1 3081918 3081918 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534070 M 405 1 0 PRDM16 nsv2802095 1 3081944 3082111 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13706688 M 2 0 1 PRDM16 nsv3323602 1 3081944 3082111 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480788,nssv14474348,nssv14472917,nssv14491082 M 14 0 4 PRDM16 CHM1,CHM13,HX1,NA19434 nsv5578348 1 3081973 3082068 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064709 M 35 0 1 PRDM16 HG00731 nsv6051598 1 3081980 3081980 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531092 M 405 1 0 PRDM16 nsv5983828 1 3081988 3082212 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528946 M 405 0 1 PRDM16 esv3562537 1 3082015 3082361 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9761284 M 767 0 1 PRDM16 esv2662377 1 3082051 3082399 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6274084,essv6395125,essv6189458,essv5431659,essv5783985,essv6112108,essv5649876,essv6245572,essv6356412,essv6286208,essv6172207,essv6422607,essv6508168,essv6391630,essv5675793,essv6100803,essv6521146,essv6163803,essv5710521,essv5841234,essv6129654,essv6191098,essv5744813,essv5899828,essv5424731,essv6504564,essv6568601,essv5462076,essv6193640,essv6588994,essv6082472,essv5848025,essv5559838,essv6125869,essv5542135,essv6298081,essv6000764,essv5781509,essv5848289,essv6506679,essv6091505,essv6429513,essv6116683,essv5977786,essv5397932,essv5541246,essv5678624,essv5545290,essv6249623,essv5812292,essv6337398,essv6322722,essv6526641,essv5464148,essv5904917,essv5730609,essv5752439,essv6068129,essv6538462,essv5398800,essv5861509,essv6542459,essv6091377,essv5512908,essv6025286,essv5943685,essv6373808,essv6461104,essv5526373,essv5665082,essv5850489,essv5675554,essv5926559,essv6306676,essv5642389,essv6292284,essv6032443,essv5659194,essv5406361,essv5930357,essv6225449,essv6252831,essv5771735,essv5874746,essv5478028,essv5529709,essv6584466,essv5665526,essv6117538,essv5926716,essv6201697,essv5779366,essv5875036,essv5987147,essv5731192,essv5501467,essv5651766,essv6027703,essv5543393,essv5840446,essv6244611,essv6337981,essv5806442,essv6157596,essv5828794,essv6387702,essv6230481,essv6251044,essv5990786,essv5896676,essv6181202,essv6020196,essv5555654,essv5755154,essv6224723,essv5443857,essv6153613,essv6049657,essv5693036,essv5494452,essv5703019,essv5647864,essv5774820,essv6089295,essv6015486,essv5983683,essv6448046 M 1151 0 127 PRDM16 HG00111,HG00123,HG00124,HG00125,HG00150,HG00151,HG00154,HG00159,HG00249,HG00250,HG00251,HG00256,HG00276,HG00277,HG00309,HG00310,HG00315,HG00318,HG00321,HG00324,HG00330,HG00331,HG00334,HG00337,HG00338,HG00342,HG00344,HG00346,HG00369,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00463,HG00464,HG00478,HG00500,HG00513,HG00533,HG00534,HG00543,HG00557,HG00580,HG00581,HG00584,HG00590,HG00607,HG00619,HG00620,HG00650,HG00651,HG00653,HG00656,HG00672,HG00690,HG00699,HG00701,HG00702,HG00705,HG00707,HG00708,HG00734,HG01060,HG01067,HG01069,HG01072,HG01073,HG01079,HG01080,HG01101,HG01107,HG01124,HG01125,HG01136,HG01170,HG01183,HG01204,HG01334,HG01350,HG01351,HG01365,HG01374,HG01375,HG01389,HG01462,HG01498,NA07051,NA07056,NA12043,NA12058,NA18519,NA18530,NA18534,NA18536,NA18542,NA18543,NA18544,NA18546,NA18548,NA18549,NA18558,NA18559,NA18574,NA18595,NA18596,NA18597,NA18599,NA18606,NA18612,NA18619,NA18620,NA18621,NA18635,NA18637,NA18910,NA18990,NA19312,NA19436,NA19463,NA19657,NA19720,NA19834,NA20510 nsv5421447 1 3082111 3082578 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902602 M 3202 0 1 PRDM16 nsv4433112 1 3082112 3082545 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15754138 M 15 0 1 PRDM16 SMI034 nsv3323603 1 3082136 3082207 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488818,nssv14490185 M 14 0 2 PRDM16 HG00268,HG00733 nsv4033155 1 3082231 3082503 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852026 M 10847 0 1 PRDM16 nsv5574966 1 3082232 3082447 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064710 M 35 0 1 PRDM16 HG00732 nsv3324290 1 3082262 3082430 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478237,nssv14476553 M 14 0 2 PRDM16 HG01352,HG02059 nsv3279806 1 3082268 3082364 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14435004 M 9 0 1 PRDM16 HG00514 nsv5984014 1 3082279 3082453 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524320 M 405 0 1 PRDM16 nsv5580257 1 3082304 3082375 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064711 M 35 0 1 PRDM16 HG03486 nsv3323405 1 3082353 3082448 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483640,nssv14479541,nssv14482985 M 14 0 3 PRDM16 HG00514,HG02059,NA19434 nsv5617343 1 3082355 3082355 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064712 M 35 1 0 PRDM16 NA19983 nsv5609626 1 3082503 3082503 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064714,nssv17064713 M 35 2 0 PRDM16 HG03125,NA20847 nsv6051653 1 3082507 3082507 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537245 M 405 1 0 PRDM16 nsv6053429 1 3082510 3082510 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525275 M 405 1 0 PRDM16 nsv458995 1 3083712 3113680 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv535843 M 1557 0 1 PRDM16 HGDP00814 esv25107 1 3083952 3084887 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv12712 M 40 1 0 PRDM16 NA12156 dgv52n54 1 3083980 3086496 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545112,nsv545101 M 17421 0 2 PRDM16 nsv1076902 1 3083999 3085200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771603 M 1 0 1 PRDM16 KWP1 nsv545102 1 3084032 3084819 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708768 M 17421 1 0 PRDM16 dgv53n54 1 3084032 3086464 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545103,nsv545106,nsv545111 M 17421 7 0 PRDM16 dgv54n54 1 3084085 3084716 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545114,nsv545104,nsv545107,nsv545109,nsv545108,nsv545115,nsv545118 M 17421 0 16 PRDM16 dgv55n54 1 3084085 3084819 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545105,nsv545119 M 17421 0 5 PRDM16 nsv3323406 1 3084126 3084185 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485166 M 14 0 1 PRDM16 HG02818 dgv56n54 1 3084136 3084819 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545110,nsv545116 M 17421 19 15 PRDM16 nsv6047205 1 3084145 3084145 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522990 M 405 1 0 PRDM16 nsv5582463 1 3084169 3084228 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064715 M 35 0 1 PRDM16 HG00732 nsv3173518 1 3084170 3084230 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440862 M 9 0 0 PRDM16 HG00733 nsv3324550 1 3084171 3084171 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489955 M 14 1 0 PRDM16 HG00268 nsv4745331 1 3084176 3084237 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16280621 M 25 0 1 PRDM16 nsv6042083 1 3084187 3084187 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533546 M 405 1 0 PRDM16 nsv545113 1 3084187 3084342 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708801 M 17421 0 1 PRDM16 nsv545117 1 3084187 3086464 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708831,nssv708830,nssv708829,nssv708828,nssv708833,nssv708834,nssv708832 M 17421 5 2 PRDM16 nsv1142740 1 3084200 3085300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994239 M 2 0 1 PRDM16 KWS1 nsv5984015 1 3084203 3084264 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521643 M 405 0 1 PRDM16 nsv6050744 1 3084216 3084216 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529722 M 405 1 0 PRDM16 nsv5605762 1 3084245 3084245 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064716 M 35 1 0 PRDM16 HG00731 nsv2801833 1 3084246 3084246 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689798 M 2 1 0 PRDM16 nsv3324551 1 3084246 3084246 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486310,nssv14479221,nssv14475365 M 14 3 0 PRDM16 CHM13,HG00268,HG00733 nsv3174912 1 3084258 3084317 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440864 M 9 0 0 PRDM16 HG00733 nsv6041850 1 3084272 3084272 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529878 M 405 1 0 PRDM16 nsv2802096 1 3084306 3084306 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13702069 M 2 1 0 PRDM16 nsv3324291 1 3084306 3084306 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480509 M 14 1 0 PRDM16 CHM1 nsv3179665 1 3084350 3084410 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440865 M 9 0 0 PRDM16 HG00733 nsv3324552 1 3084366 3084366 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481051 M 14 1 0 PRDM16 HG00268 nsv5983789 1 3084409 3084466 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523302 M 405 0 1 PRDM16 nsv2801187 1 3084419 3084419 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683538 M 2 1 0 PRDM16 nsv3324292 1 3084419 3084419 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486577,nssv14478613 M 14 2 0 PRDM16 CHM1,HG00733 nsv5611804 1 3084447 3084447 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064717 M 35 1 0 PRDM16 HG03371 nsv2801834 1 3084448 3084448 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683239 M 2 1 0 PRDM16 nsv3540650 1 3084487 3084487 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440866 M 9 1 0 PRDM16 HG00733 nsv3324553 1 3084488 3084488 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479402,nssv14475302 M 14 2 0 PRDM16 HG00268,HG00733 esv1279453 1 3084534 3084770 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3971964 M 2 0 1 PRDM16 HuRef nsv2802097 1 3084548 3084548 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681145 M 2 1 0 PRDM16 nsv6052226 1 3084569 3084569 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523919 M 405 1 0 PRDM16 nsv3324952 1 3084841 3084841 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488966 M 14 1 0 PRDM16 HG02818 nsv5619339 1 3084867 3084867 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064718 M 35 1 0 PRDM16 HG00731 nsv2802098 1 3084877 3084877 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13704806 M 2 1 0 PRDM16 nsv3323604 1 3084877 3084877 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475899,nssv14481811,nssv14488578,nssv14477519 M 14 4 0 PRDM16 CHM1,CHM13,HG00268,HG00733 nsv3542777 1 3084877 3084877 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440867 M 9 1 0 PRDM16 HG00733 nsv6046856 1 3084886 3084886 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521825 M 405 1 0 PRDM16 nsv4444318 1 3092611 3092611 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762072 M 1 1 0 PRDM16 nsv5425717 1 3092611 3092862 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902603 M 3202 1 0 PRDM16 nsv3195449 1 3092612 3092854 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383759,nssv14379099 M 9 2 0 PRDM16 NA19238,NA19240 esv3685263 1 3092626 3092626 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16469813 M 20 1 0 PRDM16 nsv1142048 1 3092626 3092849 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978766,nssv3960946 M 2 2 0 PRDM16 KWS1,KWS2 nsv2801924 1 3092706 3092706 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13696824 M 2 1 0 PRDM16 nsv3323850 1 3092706 3092706 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487771,nssv14487344,nssv14484061,nssv14477171,nssv14489219,nssv14488819,nssv14473742,nssv14475706,nssv14490485,nssv14483174,nssv14473446,nssv14481900,nssv14490765 M 14 13 0 PRDM16 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3932912 1 3092716 3092716 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15186677 M 1 1 0 PRDM16 HG002 nsv5605170 1 3092716 3092716 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064720 M 35 1 0 PRDM16 HG00731 nsv6041512 1 3092716 3092716 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520096 M 405 1 0 PRDM16 nsv3534171 1 3092735 3092735 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392195,nssv14440868 M 9 2 0 PRDM16 HG00733,NA19240 nsv3065751 1 3092743 3092743 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14038277 M 2 1 0 PRDM16 CHM1 nsv3053583 1 3092744 3092744 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14030353 M 2 1 0 PRDM16 NA12878 nsv3537717 1 3092799 3092799 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413513 M 9 1 0 PRDM16 HG00514 nsv5958778 1 3092828 3092828 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17371247 M 914 1 0 PRDM16 nsv5886773 1 3092850 3093045 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382098 M 914 0 1 PRDM16 nsv5983790 1 3092850 3093046 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534542 M 405 0 1 PRDM16 nsv5882767 1 3092851 3093348 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374764 M 914 0 1 PRDM16 nsv3225546 1 3092955 3103633 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14270862,nssv14270863 M 9 2 0 PRDM16 HG00512,HG00732 nsv6318361 1 3093550 3099296 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060403 M 19652 0 1 PRDM16 nsv3536912 1 3093714 3093714 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440869,nssv14378703,nssv14413514 M 9 3 0 PRDM16 HG00514,HG00733,NA19240 nsv4536430 1 3097279 3097280 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028875 M 10847 1 0 PRDM16 nsv5546109 1 3097279 3097285 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902605 M 3202 1 0 PRDM16 esv1001450 1 3097398 3098603 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586288 M 3 0 1 PRDM16 HuRef nsv4049317 1 3097404 3097560 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962796 M 10847 1 0 PRDM16 nsv4516500 1 3097404 3097941 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962806 M 10847 1 0 PRDM16 nsv5880091 1 3097452 3097685 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381183 M 914 0 1 PRDM16 nsv6052027 1 3097454 3097454 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535618 M 405 1 0 PRDM16 esv26942 1 3097463 3098803 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv18850 M 40 6 0 PRDM16 NA11931,NA12004,NA12006,NA12287,NA12776,NA15510 nsv6138516 1 3097508 3098488 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902607 M 3202 1 0 PRDM16 nsv3323851 1 3097509 3097509 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489447 M 14 1 0 PRDM16 HX1 nsv6044668 1 3097595 3097595 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523291 M 405 1 0 PRDM16 nsv3209907 1 3097614 3097734 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389588 M 9 1 0 PRDM16 NA19238 nsv5983791 1 3097619 3097670 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519607 M 405 0 1 PRDM16 nsv5983792 1 3097623 3097794 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531921 M 405 0 1 PRDM16 nsv4042465 1 3097631 3097690 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851736 M 10847 0 1 PRDM16 nsv5613314 1 3097652 3097652 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064725 M 35 1 0 PRDM16 NA24385 nsv5881528 1 3097652 3098361 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17371153 M 914 1 0 PRDM16 nsv3323605 1 3097653 3097653 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479316 M 14 1 0 PRDM16 HG00268 nsv6043747 1 3097666 3097666 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530096 M 405 1 0 PRDM16 nsv5983928 1 3097678 3098534 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17535308 M 405 1 0 PRDM16 nsv5983929 1 3097711 3097769 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532206 M 405 0 1 PRDM16 nsv6047478 1 3097733 3097733 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533993 M 405 1 0 PRDM16 nsv1125450 1 3097733 3097909 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983624 M 2 1 0 PRDM16 KWS2 nsv6324046 1 3097733 3098049 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203589 M 19652 1 0 PRDM16 nsv3542109 1 3097744 3097744 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440870 M 9 1 0 PRDM16 HG00733 nsv1078721 1 3097831 3098116 CNV insertion Thareja_et_al_2015 25765185 Sequencing nssv3768427 M 1 1 0 PRDM16 KWP1 nsv5615847 1 3097871 3097871 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064726 M 35 1 0 PRDM16 HG00731 nsv3281017 1 3097871 3097973 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14458022 M 9 0 1 PRDM16 HG00733 nsv5614022 1 3097879 3097879 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064727 M 35 1 0 PRDM16 NA19238 nsv1144341 1 3097886 3097962 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995088 M 2 0 1 PRDM16 KWS1 nsv5607915 1 3097900 3097900 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064728 M 35 1 0 PRDM16 NA19983 nsv3058857 1 3097906 3097906 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032762 M 2 1 0 PRDM16 CHM1 nsv5983930 1 3097909 3098065 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532780 M 405 0 1 PRDM16 esv2447933 1 3097910 3097971 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5170486 M 1 0 1 PRDM16 NA18507 nsv2802099 1 3097918 3097918 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699521 M 2 1 0 PRDM16 nsv3324953 1 3097918 3097918 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484962,nssv14484508,nssv14480867,nssv14477047 M 14 4 0 PRDM16 CHM1,CHM13,HG00268,HX1 nsv6058244 1 3097923 3097923 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524331 M 405 1 0 PRDM16 nsv5881179 1 3097933 3098106 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385081 M 914 0 1 PRDM16 nsv3532173 1 3097936 3097936 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378577,nssv14413515 M 9 2 0 PRDM16 HG00514,NA19240 nsv5581527 1 3097938 3098013 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064729 M 35 0 1 PRDM16 HG00512 nsv3323852 1 3097946 3097946 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477237 M 14 1 0 PRDM16 HG04217 nsv1115951 1 3097952 3098117 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3978513 M 2 1 0 PRDM16 KWS2 nsv3541610 1 3097971 3097971 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384803 M 9 1 0 PRDM16 NA19240 nsv5612571 1 3097973 3097973 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064730 M 35 1 0 PRDM16 HG03486 nsv3537493 1 3097976 3097976 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413517 M 9 1 0 PRDM16 HG00514 nsv954327 1 3097988 3098103 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000551 M 1 0 1 PRDM16 BILGI_BIOE nsv3539319 1 3098013 3098013 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413518 M 9 1 0 PRDM16 HG00514 nsv5618400 1 3098013 3098013 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064731 M 35 1 0 PRDM16 HG00731 nsv160334 1 3098015 3098015 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178912 M 24 PRDM16 nsv3530171 1 3098065 3098065 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413519 M 9 1 0 PRDM16 HG00514 nsv3324555 1 3098077 3098077 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489089,nssv14490300 M 14 2 0 PRDM16 HG04217,NA19240 nsv3323606 1 3098089 3098089 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473087 M 14 1 0 PRDM16 HG04217 nsv1142049 1 3098090 3098206 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3993559 M 2 1 0 PRDM16 KWS2 nsv3532564 1 3098091 3098091 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383126 M 9 1 0 PRDM16 NA19240 nsv5984017 1 3098091 3098219 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522374 M 405 0 1 PRDM16 nsv5607412 1 3098113 3098113 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064732 M 35 1 0 PRDM16 HG00731 nsv3542237 1 3098114 3098114 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413053 M 9 1 0 PRDM16 HG00514 esv3685067 1 3098115 3098195 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16469637 M 20 0 0 PRDM16 nsv1074509 1 3098118 3098197 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767609 M 1 0 1 PRDM16 KWP1 nsv1137719 1 3098119 3098197 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990221 M 2 0 1 PRDM16 KWS2 nsv6041585 1 3098125 3098125 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520899 M 405 1 0 PRDM16 nsv3533515 1 3098129 3098129 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390864 M 9 1 0 PRDM16 NA19240 nsv3324954 1 3098130 3098130 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482324 M 14 1 0 PRDM16 NA19240 nsv1132819 1 3098152 3098209 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987612 M 2 1 0 PRDM16 KWS1 nsv5613856 1 3098181 3098181 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064734 M 35 1 0 PRDM16 NA20509 nsv1125451 1 3098307 3098373 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983625 M 2 1 0 PRDM16 KWS2 esv2657185 1 3098346 3098555 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5538615,essv5938465,essv6085530,essv6303091,essv6406267,essv5717895,essv5934042,essv6384175,essv6411772,essv5743893,essv6262356,essv5630755,essv5606857,essv5561632,essv5688988,essv6367521,essv5512162,essv5634582,essv6450394,essv6589562,essv6266510,essv6595667,essv5708029,essv6183646,essv6483158,essv5920614,essv6194040,essv5818384,essv5838530,essv6031175,essv6130985,essv5641195,essv5408262,essv5808855,essv6155625,essv5983257,essv5575901,essv6203728,essv5494361,essv5649474,essv6039583,essv6149953,essv5477444,essv5705542,essv5625710,essv6292795,essv5821976,essv5897468,essv6413614,essv5485848,essv6063420,essv5676195,essv5929347,essv5596195,essv6201420,essv6377654,essv5608004,essv5527601,essv5731107,essv5960808,essv6115199,essv6276811,essv6174391,essv6384544,essv5972060,essv6383401,essv5795763,essv5632080,essv6456899,essv6581950,essv5433508,essv5767879,essv5468949,essv5682351,essv6184856,essv5836212,essv6209918,essv5759878,essv5670385,essv6147693,essv6010567,essv5813682,essv5800105,essv5909746,essv5632713,essv6107795,essv5809740,essv6307286,essv6034438,essv6041890,essv6089536,essv5493343,essv6179293,essv5976114,essv5716770,essv6160385,essv5489336,essv5517489,essv6267594,essv6292746,essv5651570,essv6519104,essv6143427,essv6063549,essv5960012,essv5922822,essv5591039,essv6156345,essv5576937,essv6090124,essv5912654,essv5951367,essv6287528,essv6144611,essv6001097,essv5433823,essv5530266,essv5760161,essv5955537,essv6252553,essv5437567,essv6519644,essv6257623,essv5880601,essv5652322,essv6176643,essv6514978,essv6398079,essv6303026,essv6211074,essv6353649,essv6320415,essv5635263,essv5443094,essv5599375,essv6382914,essv5918341,essv6153612,essv6102864,essv5976471,essv5553972,essv5573588,essv6421513,essv5866769,essv5817653,essv5598397,essv6564065,essv5748316,essv6125472,essv6377465,essv6016917,essv5902078,essv5977768,essv6481659,essv6028664,essv5587160,essv6029226,essv5788001,essv6371866,essv5497188,essv5880948,essv5509902 M 1151 0 162 PRDM16 HG00098,HG00111,HG00115,HG00124,HG00151,HG00152,HG00154,HG00159,HG00188,HG00249,HG00250,HG00264,HG00265,HG00272,HG00276,HG00277,HG00281,HG00308,HG00310,HG00311,HG00312,HG00313,HG00337,HG00338,HG00342,HG00344,HG00346,HG00357,HG00369,HG00380,HG00418,HG00428,HG00437,HG00463,HG00464,HG00533,HG00577,HG00580,HG00590,HG00593,HG00619,HG00625,HG00637,HG00651,HG00690,HG00693,HG00699,HG00705,HG00734,HG00736,HG00737,HG00739,HG01052,HG01060,HG01069,HG01070,HG01072,HG01073,HG01079,HG01080,HG01107,HG01124,HG01136,HG01137,HG01171,HG01190,HG01191,HG01251,HG01253,HG01334,HG01353,HG01357,HG01359,HG01360,HG01374,HG01383,HG01384,HG01390,HG01441,HG01462,HG01489,HG01516,HG01521,NA07051,NA07056,NA11992,NA12058,NA12155,NA12341,NA12347,NA12399,NA18487,NA18507,NA18530,NA18541,NA18542,NA18550,NA18570,NA18574,NA18582,NA18597,NA18606,NA18612,NA18619,NA18620,NA18638,NA18868,NA18933,NA18963,NA18977,NA18986,NA18999,NA19055,NA19065,NA19074,NA19080,NA19088,NA19198,NA19225,NA19235,NA19312,NA19316,NA19317,NA19373,NA19374,NA19381,NA19396,NA19404,NA19435,NA19436,NA19437,NA19438,NA19451,NA19461,NA19463,NA19660,NA19670,NA19675,NA19685,NA19713,NA19720,NA19749,NA19758,NA19759,NA19761,NA19776,NA19783,NA19785,NA19917,NA19985,NA20294,NA20317,NA20341,NA20513,NA20529,NA20540,NA20588,NA20758,NA20802,NA20803,NA20805,NA20809 nsv6042798 1 3098353 3098353 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530061 M 405 1 0 PRDM16 nsv3324956 1 3098354 3098354 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478411,nssv14487692,nssv14480814,nssv14475521,nssv14490179 M 14 5 0 PRDM16 HG00514,HG02059,HG02106,NA12878,NA19240 nsv1071333 1 3098366 3098489 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769828 M 1 0 1 PRDM16 KWP1 nsv3541288 1 3098370 3098370 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440871 M 9 1 0 PRDM16 HG00733 nsv5879774 1 3098371 3098488 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385458 M 914 0 1 PRDM16 dgv20n106 1 3098371 3098489 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1122617,nsv1122284 M 2 0 2 PRDM16 KWS1,KWS2 esv3562648 1 3098371 3098489 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9761395 M 767 0 1 PRDM16 esv3675614 1 3098371 3098490 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497257 M 20 0 1 PRDM16 nsv6041897 1 3098378 3098378 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520581 M 405 1 0 PRDM16 nsv1149038 1 3098391 3098451 CNV deletion John_et_al_2014 26484159 Sequencing nssv4002546 M 1 0 1 PRDM16 KWB1 nsv1130628 1 3098424 3098642 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966941 M 2 0 1 PRDM16 KWS2 nsv4049093 1 3101462 3101530 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852304 M 10847 0 1 PRDM16 nsv5614983 1 3105170 3105170 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064735 M 35 1 0 PRDM16 HG01596 nsv5886965 1 3109589 3109650 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376765 M 914 0 1 PRDM16 nsv5983931 1 3109610 3109668 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536102 M 405 0 1 PRDM16 nsv6054467 1 3111164 3111164 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531899 M 405 1 0 PRDM16 nsv6055209 1 3111229 3111229 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533419 M 405 1 0 PRDM16 nsv545120 1 3111748 3138111 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708840 M 17421 0 1 PRDM16 nsv3226337 1 3124159 3134155 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14275902 M 9 1 0 PRDM16 HG00733 nsv829870 1 3126805 3256088 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1451183,nssv1451294,nssv1451072,nssv1451405 M 95 0 4 PRDM16 nsv4050685 1 3126909 3151690 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962832 M 10847 1 0 PRDM16 nsv5608606 1 3129153 3129153 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064740,nssv17064739 M 35 2 0 PRDM16 HG00732,NA19239 nsv3177033 1 3129153 3129213 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413054 M 9 0 0 PRDM16 HG00514 nsv5416776 1 3129153 3129259 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902610 M 3202 1 0 PRDM16 nsv3530906 1 3129154 3129154 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378866 M 9 1 0 PRDM16 NA19240 nsv4767307 1 3129176 3129176 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16263094 M 25 1 0 PRDM16 nsv3933948 1 3129181 3129181 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15186719 M 1 1 0 PRDM16 HG002 nsv5886255 1 3129181 3129250 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17371186 M 914 1 0 PRDM16 esv3685469 1 3129182 3129182 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470000 M 20 1 0 PRDM16 nsv5616057 1 3129182 3129182 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064741 M 35 1 0 PRDM16 HG00731 nsv2801836 1 3129183 3129183 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689451,nssv13689461 M 2 2 0 PRDM16 nsv6041750 1 3129207 3129207 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532566 M 405 1 0 PRDM16 nsv3535655 1 3129216 3129216 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440872,nssv14384362,nssv14440873 M 9 2 0 PRDM16 HG00733,NA19240 esv3384045 1 3130352 3130371 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678397 M 185 1 0 PRDM16 NA19240 nsv5552286 1 3131883 3131910 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902611 M 3202 1 0 PRDM16 nsv1132820 1 3131886 3131980 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987613 M 2 1 0 PRDM16 KWS1 nsv6138993 1 3131910 3132030 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902612 M 3202 1 0 PRDM16 nsv3060809 1 3131911 3131911 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14030226 M 2 1 0 PRDM16 CHM1 nsv3205244 1 3131911 3132030 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386355 M 9 1 0 PRDM16 NA19238 nsv4754000 1 3131914 3131914 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16277252 M 25 1 0 PRDM16 esv3685533 1 3131933 3131933 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470057 M 20 1 0 PRDM16 nsv3930674 1 3131933 3131933 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187530 M 1 1 0 PRDM16 HG002 nsv5607834 1 3131933 3131933 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064743,nssv17064742 M 35 2 0 PRDM16 HG00732,NA19239 nsv5950944 1 3131933 3131933 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17377197 M 914 1 0 PRDM16 nsv2801837 1 3131934 3131934 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13698082 M 2 1 0 PRDM16 nsv3324959 1 3131934 3131934 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488996,nssv14473737,nssv14473055,nssv14475035,nssv14484527,nssv14476919 M 14 6 0 PRDM16 CHM1,CHM13,HG02818,HX1,NA19240,NA19434 nsv3176000 1 3131935 3131996 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383681 M 9 0 0 PRDM16 NA19240 nsv5880827 1 3131947 3132008 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375967 M 914 0 1 PRDM16 nsv6046562 1 3131958 3131958 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526715 M 405 1 0 PRDM16 nsv3531413 1 3131964 3131964 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440875 M 9 1 0 PRDM16 HG00733 nsv3181255 1 3131972 3132032 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413055 M 9 0 0 PRDM16 HG00514 nsv3324960 1 3131973 3131973 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477908,nssv14485933 M 14 2 0 PRDM16 HG04217,NA19240 nsv5620182 1 3131980 3131980 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064744 M 35 1 0 PRDM16 HG00731 nsv3323854 1 3131981 3131981 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485433,nssv14483105,nssv14475245 M 14 3 0 PRDM16 HG00733,HX1,NA19434 nsv5623869 1 3138203 3138203 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064745 M 35 1 0 PRDM16 HG03009 dgv7e212 1 3140279 3153498 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577708,esv3577707,esv3577706,esv3577704 M 873 0 15 PRDM16 400061DE,400076LC,400361HC,400478WE,400515ZG,400574MA,400650RM,400893ZE,401021SC,401165SB,401183HP,401406KF,401505WI,401551MB,402064DC esv3585040 1 3144724 3209782 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841970 M 2504 1 0 PRDM16 HG01063 nsv527875 1 3144745 3208830 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704374 M 2026 0 1 PRDM16 nsv4533684 1 3147939 3147940 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031419 M 10847 1 0 PRDM16 nsv5948966 1 3147949 3147949 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17380080 M 914 1 0 PRDM16 nsv6043097 1 3147969 3147969 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533285 M 405 1 0 PRDM16 nsv5545318 1 3148008 3148010 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902614 M 3202 1 0 PRDM16 nsv829981 1 3152592 3333816 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1441674,nssv1441519,nssv1441530,nssv1441552,nssv1441541,nssv1441563,nssv1441574,nssv1441630,nssv1441596,nssv1441585,nssv1441607,nssv1441618,nssv1441641,nssv1441652,nssv1441663,nssv1441685 M 95 0 16 PRDM16 nsv5429489 1 3163935 3163993 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902615 M 3202 1 0 PRDM16 nsv5557956 1 3165387 3171778 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902616 M 3202 0 0 PRDM16 nsv5427836 1 3168439 3171778 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902617 M 3202 0 1 PRDM16 nsv3214917 1 3173729 3180107 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260035,nssv14260033,nssv14260031,nssv14260037,nssv14260038,nssv14260030,nssv14260036,nssv14260034,nssv14260032 M 9 9 0 PRDM16 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv2639320 1 3177065 3177709 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5229663 M 1 1 0 PRDM16 NA18507 nsv4756050 1 3177270 3177270 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16266569 M 25 1 0 PRDM16 esv3685606 1 3177306 3177306 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470122 M 20 1 0 PRDM16 nsv3535765 1 3177306 3177306 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440876,nssv14413056,nssv14390756 M 9 3 0 PRDM16 HG00514,HG00733,NA19240 nsv3944330 1 3177306 3177306 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187578 M 1 1 0 PRDM16 HG002 nsv4444319 1 3177306 3177306 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762229 M 1 1 0 PRDM16 nsv5617651 1 3177306 3177306 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064752 M 35 1 0 PRDM16 HG00731 nsv6052252 1 3177306 3177306 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524339 M 405 1 0 PRDM16 nsv2801188 1 3177307 3177307 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692677,nssv13693619 M 2 2 0 PRDM16 nsv3324962 1 3177307 3177307 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483941,nssv14477323,nssv14479670,nssv14476722,nssv14489125,nssv14481037,nssv14488976,nssv14482669,nssv14483219,nssv14478627,nssv14484112,nssv14476037,nssv14489718,nssv14475446 M 14 14 0 PRDM16 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3058859 1 3177312 3177312 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032893 M 2 1 0 PRDM16 CHM1 nsv5567200 1 3180949 3181000 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064754 M 35 0 1 PRDM16 HG03125 nsv5879004 1 3185981 3186179 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17389169 M 914 0 1 PRDM16 nsv1132822 1 3186203 3186255 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987615 M 2 1 0 PRDM16 KWS1 nsv1147331 1 3186213 3186267 CNV insertion John_et_al_2014 26484159 Sequencing nssv4000105 M 1 1 0 PRDM16 KWB1 nsv5613872 1 3186275 3186275 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065127 M 35 1 0 PRDM16 HG00732 nsv4535377 1 3186275 3186276 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031994 M 10847 1 0 PRDM16 nsv5884073 1 3186275 3186349 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17387872 M 914 1 0 PRDM16 nsv1110989 1 3186275 3186350 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961418 M 2 1 0 PRDM16 KWS1 nsv6318230 1 3186275 3186350 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203610 M 19652 1 0 PRDM16 nsv5423024 1 3186275 3186369 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902620 M 3202 1 0 PRDM16 nsv6041200 1 3186280 3186280 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520781 M 405 1 0 PRDM16 nsv2801191 1 3186320 3186320 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693084 M 2 1 0 PRDM16 nsv3323611 1 3186320 3186320 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481233,nssv14475775,nssv14489072 M 14 3 0 PRDM16 CHM1,HG02818,NA19434 nsv3177843 1 3186353 3186429 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391403 M 9 0 0 PRDM16 NA19240 nsv5433413 1 3186558 3186780 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902621 M 3202 0 1 PRDM16 nsv5612547 1 3187899 3187899 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065128 M 35 1 0 PRDM16 HG02587 nsv545121 1 3188309 3203121 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708841 M 17421 0 1 PRDM16 nsv5610179 1 3193248 3193248 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064755 M 35 1 0 PRDM16 HG02587 nsv5983800 1 3200224 3200280 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525133 M 405 0 1 PRDM16 nsv5566132 1 3200231 3200286 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064756 M 35 0 1 PRDM16 NA19650 nsv5876719 1 3203402 3203479 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383590 M 914 0 1 PRDM16 nsv5984025 1 3203428 3203505 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532217 M 405 0 1 PRDM16 nsv5609781 1 3203790 3203790 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065130 M 35 1 0 PRDM16 HG03371 nsv5984026 1 3203807 3203888 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536026 M 405 0 1 PRDM16 nsv3281330 1 3203809 3203996 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14408427 M 9 0 1 PRDM16 NA19240 nsv5983843 1 3203859 3203995 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517747 M 405 0 1 PRDM16 nsv6046789 1 3203868 3203868 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529657 M 405 1 0 PRDM16 nsv4750729 1 3203907 3203907 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16270003 M 25 1 0 PRDM16 nsv3324963 1 3203936 3203936 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488696 M 14 1 0 PRDM16 HG00514 esv3675746 1 3203946 3204186 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497375 M 20 0 1 PRDM16 nsv5620257 1 3203956 3203956 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065131 M 35 1 0 PRDM16 HG02011 nsv3929401 1 3204041 3204185 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177731 M 1 0 1 PRDM16 HG002 nsv3282919 1 3204053 3204246 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14458915 M 9 0 1 PRDM16 HG00733 nsv5983801 1 3204103 3204250 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521421 M 405 0 1 PRDM16 nsv6057163 1 3204115 3204115 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522778 M 405 1 0 PRDM16 nsv5605118 1 3204117 3204117 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065132 M 35 1 0 PRDM16 HG00512 nsv3324964 1 3204117 3204215 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477773,nssv14488243,nssv14473112,nssv14476910,nssv14486902,nssv14487841,nssv14490167,nssv14473689,nssv14480210 M 14 0 9 PRDM16 HG00268,HG00514,HG00733,HG01352,HG02106,HG04217,HX1,NA12878,NA19240 nsv1151429 1 3204129 3204184 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003992 M 1 0 1 PRDM16 KWB1 nsv5573179 1 3204129 3204225 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064757 M 35 0 1 PRDM16 HG00731 nsv4449081 1 3204129 3204226 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15765897 M 1 0 1 PRDM16 nsv3180560 1 3204134 3204231 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14434128 M 9 0 0 PRDM16 HG00514 nsv3539205 1 3204185 3204185 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374803 M 9 1 0 PRDM16 NA19240 nsv3323612 1 3204202 3204202 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491678 M 14 1 0 PRDM16 HG04217 nsv3280408 1 3204222 3204365 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14406647 M 9 0 1 PRDM16 NA19240 nsv4039050 1 3204259 3204458 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15961977 M 10847 1 0 PRDM16 dgv6n67 1 3209858 3211328 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv824808,nsv824919 M 31 0 2 PRDM16 AK14,NA18552 esv3585041 1 3209922 3212186 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841972,essv9841971 M 2504 0 2 PRDM16 HG00581,NA18552 nsv5882507 1 3209949 3212146 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384793 M 914 0 1 PRDM16 esv2670143 1 3209949 3212147 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6317073,essv6330380,essv6405701,essv6527111,essv6215077,essv6423827 M 1151 0 6 PRDM16 HG00418,HG00427,HG00581,HG00592,NA18552,NA19003 nsv5983943 1 3209949 3212147 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535583 M 405 0 1 PRDM16 nsv4037178 1 3209952 3212147 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852321 M 10847 0 1 PRDM16 nsv5431074 1 3209952 3212147 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902629 M 3202 0 1 PRDM16 nsv5829699 1 3210085 3212120 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466090 M 914 0 0 PRDM16 nsv7645 1 3214107 3249187 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4419 M 9 1 0 PRDM16 NA12878 nsv5624202 1 3214458 3214458 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064759 M 35 1 0 PRDM16 HG03125 nsv3324965 1 3214459 3214459 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484932 M 14 1 0 PRDM16 NA19434 nsv4535862 1 3214487 3214488 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032087 M 10847 1 0 PRDM16 nsv161030 1 3214565 3214565 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179608 M 24 PRDM16 esv2582992 1 3215213 3217295 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5311128 M 1 0 1 PRDM16 NA18507 esv2000244 1 3215531 3216456 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4511826 M 1 0 1 PRDM16 NA18507 nsv511673 1 3215607 3217688 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626311 M 1 0 1 PRDM16 1 esv1917341 1 3215619 3216216 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4748244 M 1 0 1 PRDM16 NA18507 esv22281 1 3215660 3217110 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11880 M 40 0 11 PRDM16 NA11894,NA12004,NA12006,NA12044,NA12489,NA12878,NA15510,NA18502,NA18511,NA18861,NA19240 nsv5423059 1 3215694 3216396 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902640 M 3202 0 1 PRDM16 nsv3281656 1 3215698 3215820 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14408872 M 9 0 1 PRDM16 NA19240 nsv5882179 1 3215729 3216375 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372249 M 914 0 1 PRDM16 nsv3324561 1 3215743 3215743 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489045 M 14 1 0 PRDM16 HG04217 nsv3324562 1 3215831 3216257 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483562,nssv14485956,nssv14477187,nssv14488168,nssv14491736,nssv14477682,nssv14480318 M 14 0 7 PRDM16 HG00514,HG00733,HG02059,HG02106,HX1,NA12878,NA19240 nsv3281105 1 3215837 3216264 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14434717,nssv14408561 M 9 0 2 PRDM16 HG00514,NA19240 nsv5983804 1 3215872 3216016 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517964 M 405 0 1 PRDM16 nsv3049867 1 3215874 3215996 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14023364 M 2 0 1 PRDM16 NA12878 nsv3282695 1 3215874 3215996 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14466281 M 9 0 1 PRDM16 HG00733 nsv4738841 1 3216093 3216153 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260286 M 25 0 1 PRDM16 nsv5574782 1 3216097 3216157 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064761 M 35 0 1 PRDM16 HG00512 nsv5984030 1 3216097 3216157 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526294 M 405 0 1 PRDM16 nsv2801928 1 3216098 3216158 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13691805 M 2 0 1 PRDM16 nsv3323856 1 3216098 3216158 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487350,nssv14489730,nssv14472464,nssv14473803 M 14 0 4 PRDM16 CHM1,HG00268,HG04217,HX1 nsv3175185 1 3216098 3216159 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14435077 M 9 0 0 PRDM16 HG00514 nsv5564655 1 3216108 3216839 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064762 M 35 0 1 PRDM16 HG00731 nsv3952296 1 3216108 3216840 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177749 M 1 0 1 PRDM16 HG002 nsv545122 1 3216117 3217019 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708842 M 17421 0 1 PRDM16 nsv5621541 1 3216229 3216229 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064763 M 35 1 0 PRDM16 HG03125 nsv5983846 1 3216238 3216843 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522121 M 405 0 1 PRDM16 dgv54n152 1 3216280 3217029 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282376,nsv3209425,nsv3526199 M 9 0 5 PRDM16 HG00512,HG00731,HG00733,NA19238,NA19240 nsv4433114 1 3216307 3216941 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15748364 M 15 0 1 PRDM16 MDQ025 nsv3053359 1 3216461 3217068 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14030136 M 2 0 1 PRDM16 NA12878 nsv3323857 1 3216464 3216646 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482448 M 14 0 1 PRDM16 HG02059 nsv3280954 1 3216464 3216647 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14407708,nssv14435471 M 9 0 2 PRDM16 HG00514,NA19240 nsv3324966 1 3216474 3216534 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490889,nssv14490211,nssv14474115,nssv14474126,nssv14488389,nssv14485241 M 14 0 6 PRDM16 HG00514,HG00733,HG02106,HX1,NA12878,NA19240 nsv1074510 1 3216499 3216900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772223 M 1 0 1 PRDM16 KWP1 nsv3323613 1 3216597 3216840 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477390,nssv14474320,nssv14487364,nssv14482304,nssv14479548 M 14 0 5 PRDM16 HG00514,HG00733,HG02106,HX1,NA12878 nsv3280501 1 3216724 3216846 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14408025,nssv14434265 M 9 0 2 PRDM16 HG00514,NA19240 nsv3323614 1 3216728 3216849 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490562 M 14 0 1 PRDM16 HG02059 nsv3324967 1 3216784 3216966 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490607 M 14 0 1 PRDM16 HG04217 nsv5983847 1 3216802 3216861 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536245 M 405 0 1 PRDM16 nsv5984031 1 3216846 3216896 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524570 M 405 0 1 PRDM16 nsv3171726 1 3216902 3216963 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14435141 M 9 0 0 PRDM16 HG00514 nsv5572910 1 3216911 3216971 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064764 M 35 0 1 PRDM16 HG00512 nsv2801838 1 3216912 3216972 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690216 M 2 0 1 PRDM16 nsv3323858 1 3216912 3216972 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472432,nssv14492003,nssv14473589 M 14 0 3 PRDM16 CHM1,HG00268,HX1 nsv5984032 1 3216920 3216980 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530820 M 405 0 1 PRDM16 nsv830092 1 3217946 3383373 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1441741,nssv1441763,nssv1441752,nssv1441785,nssv1441774,nssv1441796,nssv1441807,nssv1441818,nssv1441829,nssv1441840,nssv1441696,nssv1441707,nssv1441729,nssv1441718 M 95 1 13 ARHGEF16,PRDM16 nsv5578939 1 3220342 3220513 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064765 M 35 0 1 PRDM16 HG00732 esv3675781 1 3220342 3220515 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497406 M 20 0 1 PRDM16 nsv3323615 1 3220344 3220515 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474772 M 14 0 1 PRDM16 NA19434 nsv1076915 1 3220353 3220539 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767351 M 1 0 1 PRDM16 KWP1 nsv5983848 1 3220397 3220649 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518242 M 405 0 1 PRDM16 nsv522146 1 3227188 3228915 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694919 M 2026 0 1 PRDM16 nsv4051112 1 3229185 3229440 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962014 M 10847 1 0 PRDM16 nsv5572999 1 3233175 3233230 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064770 M 35 0 1 PRDM16 HG02011 nsv5875705 1 3233175 3233230 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386538 M 914 0 1 PRDM16 nsv4765656 1 3233218 3233218 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16277556 M 25 1 0 PRDM16 nsv5609822 1 3233231 3233231 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064771 M 35 1 0 PRDM16 HG00732 nsv6046616 1 3233231 3233231 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523362 M 405 1 0 PRDM16 nsv3561818 1 3233270 3233270 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383410 M 9 1 0 PRDM16 HG00732 nsv3323616 1 3233271 3233271 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484115 M 14 1 0 PRDM16 HG02059 nsv5957638 1 3233271 3233271 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17387986 M 914 1 0 PRDM16 nsv1115331 1 3236500 3238900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976383 M 2 1 0 PRDM16 KWS2 nsv5868511 1 3237872 3238395 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372488 M 914 0 1 PRDM16 nsv5983947 1 3237903 3237963 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523231 M 405 0 1 PRDM16 esv2662201 1 3238067 3238529 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5467613,essv6377111,essv6229789,essv6010041,essv5750981,essv6524346,essv5980277,essv5684629,essv6117936,essv5718955,essv5802014,essv6400750,essv5620017,essv6487762,essv5907889,essv5413984,essv6282709,essv5692928,essv5797750,essv5823120,essv6540045,essv6127966,essv6064507,essv6156319,essv6282849,essv6093751,essv6201031,essv5798711,essv5904874,essv5610976,essv6133019,essv5579548,essv5654746,essv6193777,essv6010527,essv5556253,essv5503928,essv5840751,essv5513919,essv6146874,essv5764376,essv5723965,essv5576041,essv6172970,essv6147593,essv5677945,essv5602859 M 1151 0 47 PRDM16 HG01094,HG01108,NA18486,NA18488,NA18510,NA18519,NA18520,NA18523,NA18853,NA18874,NA18907,NA18910,NA19092,NA19093,NA19099,NA19108,NA19116,NA19138,NA19313,NA19319,NA19321,NA19359,NA19360,NA19372,NA19373,NA19374,NA19377,NA19382,NA19431,NA19443,NA19455,NA19471,NA19472,NA19649,NA19676,NA19711,NA19818,NA19835,NA19900,NA19904,NA19920,NA20127,NA20287,NA20291,NA20322,NA20346,NA20507 nsv4040042 1 3242224 3242283 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852330 M 10847 0 1 PRDM16 nsv5881227 1 3242227 3242277 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374589 M 914 0 1 PRDM16 nsv4036283 1 3242397 3242483 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962022 M 10847 1 0 PRDM16 nsv4740770 1 3242486 3242564 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16269254 M 25 0 1 PRDM16 nsv3324564 1 3242531 3242590 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14796047,nssv14805622 M 14 0 2 PRDM16 HG02059,HG02818 nsv6045365 1 3242543 3242543 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520011 M 405 1 0 PRDM16 nsv5566354 1 3242566 3242714 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064774 M 35 0 1 PRDM16 HG03125 nsv5574053 1 3242594 3242652 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064775 M 35 0 1 PRDM16 HG00731 nsv5876870 1 3242594 3242652 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17378821 M 914 0 1 PRDM16 nsv3950093 1 3242594 3242653 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177789 M 1 0 1 PRDM16 HG002 nsv4449082 1 3242594 3242653 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15756337 M 1 0 1 PRDM16 nsv5983850 1 3242594 3242653 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535962 M 405 0 1 PRDM16 esv998521 1 3242595 3242653 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584219 M 3 0 1 PRDM16 HuRef esv3675816 1 3242596 3242716 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497438 M 20 0 1 PRDM16 nsv3279722 1 3242600 3242659 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14459589,nssv14409756 M 9 0 2 PRDM16 HG00733,NA19240 nsv2801929 1 3242608 3242666 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13695860 M 2 0 1 PRDM16 nsv3323860 1 3242608 3242666 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14796875,nssv14797103,nssv14799985,nssv14805650,nssv14808693,nssv14809449 M 14 0 6 PRDM16 CHM13,HG00733,HG01352,NA12878,NA19240,NA19434 esv1330141 1 3242609 3242668 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3645168 M 2 0 1 PRDM16 HuRef nsv5624115 1 3242614 3242614 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064776 M 35 1 0 PRDM16 HG02011 nsv6060139 1 3242626 3242626 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517581 M 405 1 0 PRDM16 nsv3324968 1 3242627 3242716 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483956 M 14 0 1 PRDM16 HG02818 nsv5608002 1 3242655 3242655 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064777 M 35 1 0 PRDM16 HG03732 nsv6047303 1 3242688 3242688 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522957 M 405 1 0 PRDM16 nsv4051061 1 3244997 3245716 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852340 M 10847 0 1 PRDM16 esv3340545 1 3252392 3254790 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692298 M 185 1 0 PRDM16 NA19240 nsv1141125 1 3252500 3254700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3992632 M 2 1 0 PRDM16 KWS2 esv3347294 1 3252592 3253890 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692299 M 185 1 0 PRDM16 NA19239 nsv1118426 1 3252700 3253900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958932 M 2 1 0 PRDM16 KWS1 nsv3222840 1 3258692 3272690 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260088,nssv14260087,nssv14260092,nssv14260090,nssv14260089,nssv14260091 M 9 6 0 PRDM16 HG00512,HG00513,HG00731,HG00732,NA19238,NA19239 nsv526836 1 3259113 3259183 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703193 M 2026 0 1 PRDM16 esv3685891 1 3260068 3260068 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470379 M 20 1 0 PRDM16 nsv4516501 1 3262224 3262297 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852350 M 10847 0 1 PRDM16 esv3675900 1 3262231 3262298 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497513 M 20 0 1 PRDM16 nsv5580574 1 3262321 3262386 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064778 M 35 0 1 PRDM16 NA19239 dgv55n152 1 3262321 3262387 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3524873,nsv3206451 M 9 0 5 PRDM16 HG00731,HG00732,HG00733,NA19238,NA19239 nsv4449083 1 3262321 3262387 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15766633 M 1 0 1 PRDM16 nsv5983851 1 3262323 3262387 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520972 M 405 0 1 PRDM16 nsv5874518 1 3262323 3262388 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380256 M 914 0 1 PRDM16 nsv3933491 1 3262323 3262389 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15177790 M 1 0 1 PRDM16 HG002 esv3656283 1 3262323 3262391 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16479859 M 20 0 0 PRDM16 nsv1076920 1 3262326 3262393 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764268 M 1 0 1 PRDM16 KWP1 nsv1133795 1 3262327 3262393 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969364 M 2 0 1 PRDM16 KWS2 nsv1122285 1 3264401 3264477 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969736 M 2 0 1 PRDM16 KWS2 nsv3205364 1 3267991 3268292 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382101,nssv14382195 M 9 0 2 PRDM16 HG00731,HG00732 nsv512711 1 3268066 3268106 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625335 M 1 1 0 PRDM16 1 nsv4444320 1 3268081 3268081 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762576 M 1 1 0 PRDM16 nsv3542749 1 3268088 3268088 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440877,nssv14376525 M 9 2 0 PRDM16 HG00733,NA19240 nsv3954353 1 3268088 3268088 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187634 M 1 1 0 PRDM16 HG002 nsv5617549 1 3268088 3268088 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064781 M 35 1 0 PRDM16 HG00731 nsv6054537 1 3268088 3268088 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526398 M 405 1 0 PRDM16 nsv2801194 1 3268089 3268089 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690166 M 2 1 0 PRDM16 nsv4755990 1 3268090 3268090 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16294983 M 25 1 0 PRDM16 nsv3532939 1 3268093 3268093 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413057 M 9 1 0 PRDM16 HG00514 nsv3539082 1 3268094 3268094 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384809 M 9 1 0 PRDM16 NA19240 nsv3542552 1 3268150 3268150 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374811 M 9 1 0 PRDM16 NA19240 nsv6048049 1 3268169 3268169 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524368 M 405 1 0 PRDM16 nsv6317865 1 3268421 3287986 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060975 M 19652 0 1 PRDM16 nsv4050286 1 3269043 3269105 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852369 M 10847 0 1 PRDM16 nsv470687 1 3273063 3679774 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547686,nssv547681,nssv547683,nssv547674,nssv547676,nssv547679,nssv547682,nssv547680,nssv547684,nssv547677,nssv547675,nssv547685 M 443 0 8 ARHGEF16,CCDC27,MEGF6,MIR551A,PRDM16,TP73,TP73-AS1,TPRG1L,WRAP73 HGDP00288,HGDP00298,HGDP00302,HGDP00546,HGDP00550,HGDP00657,HGDP00825,HGDP00978 nsv3534588 1 3273617 3273617 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389163 M 9 1 0 PRDM16 NA19240 nsv3223804 1 3273617 3281514 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14269694 M 9 1 0 PRDM16 NA19240 nsv5886698 1 3274110 3276458 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17388682 M 914 0 1 PRDM16 nsv3179161 1 3274112 3274214 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390094 M 9 0 0 PRDM16 NA19240 nsv5539917 1 3274113 3274113 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902684 M 3202 1 0 PRDM16 nsv5562958 1 3274113 3274132 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902673 M 3202 0 0 PRDM16 nsv3241709 1 3274120 3276459 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386522,nssv14384445 M 9 0 0 PRDM16 NA19239,NA19240 nsv5610533 1 3274129 3274129 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064782 M 35 1 0 PRDM16 HG00732 nsv4535768 1 3274132 3274133 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029650 M 10847 1 0 PRDM16 nsv6319145 1 3274132 3276581 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203626 M 19652 1 0 PRDM16 nsv3323618 1 3274133 3274133 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485925 M 14 1 0 PRDM16 HG02818 nsv5618410 1 3283830 3283830 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064612 M 35 1 0 PRDM16 HG01596 esv3676001 1 3288017 3288073 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497604 M 20 0 1 PRDM16 nsv3169404 1 3288537 3365748 CNV duplication Fu_et_al_2018 29476164 SNP array nssv14248196 M 93 1 0 PRDM16 NGO_23 esv2758915 1 3288938 3548853 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757719 M 270 1 0 ARHGEF16,MEGF6,MIR551A,PRDM16,TPRG1L,WRAP73 NA18943 nsv459950 1 3289729 3301130 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536592 M 1557 0 1 PRDM16 HGDP00788 nsv545123 1 3289729 3301130 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172589 M 17421 0 1 PRDM16 HGDP00788 dgv56n152 1 3291665 3297464 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3196031,nsv3201372 M 9 0 9 PRDM16 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv522900 1 3293665 3294972 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698558 M 2026 0 1 PRDM16 nsv1076925 1 3295599 3296700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766166 M 1 0 1 PRDM16 KWP1 nsv1136060 1 3295600 3296600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989665 M 2 0 1 PRDM16 KWS2 nsv5983806 1 3295903 3296003 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527656 M 405 0 1 PRDM16 nsv6046980 1 3295925 3295925 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528064 M 405 1 0 PRDM16 nsv3324565 1 3295937 3295937 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474145 M 14 1 0 PRDM16 NA12878 nsv6047226 1 3295982 3295982 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534109 M 405 1 0 PRDM16 nsv5606115 1 3296018 3296018 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065272 M 35 1 0 PRDM16 NA19650 nsv5565940 1 3296018 3296073 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064613 M 35 0 1 PRDM16 HG03065 nsv2801930 1 3296019 3296019 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692188 M 2 1 0 PRDM16 nsv3323619 1 3296019 3296019 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483487 M 14 1 0 PRDM16 CHM1 nsv5623097 1 3296102 3296102 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065273 M 35 1 0 PRDM16 NA12878 nsv3323861 1 3296205 3296205 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474826 M 14 1 0 PRDM16 NA12878 nsv3323620 1 3296285 3296285 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480783 M 14 1 0 PRDM16 NA12878 nsv3324566 1 3296388 3296388 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487351 M 14 1 0 PRDM16 NA12878 nsv5873321 1 3300409 3300460 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376773 M 914 0 1 PRDM16 nsv4537450 1 3300559 3300560 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029743 M 10847 1 0 PRDM16 nsv4536032 1 3300609 3300610 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030313 M 10847 1 0 PRDM16 nsv5416610 1 3300609 3300671 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902706 M 3202 1 0 PRDM16 nsv524467 1 3308034 3308498 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700403 M 2026 0 1 PRDM16 dgv1n21 1 3308034 3314596 CNV gain Shaikh_et_al_2009 19592680 SNP array nsv521921,nsv527139 M 2026 2 0 PRDM16 nsv5871326 1 3308225 3308496 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381130 M 914 0 1 PRDM16 nsv5984036 1 3319580 3319641 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532661 M 405 0 1 PRDM16 esv3414281 1 3324792 3326890 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692300 M 185 1 0 PRDM16 NA19240 nsv4034471 1 3325159 3325249 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963407 M 10847 1 0 PRDM16 nsv6331128 1 3325169 3325253 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203628 M 19652 1 0 PRDM16 nsv6058553 1 3325186 3325186 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526926 M 405 1 0 PRDM16 nsv5607572 1 3325227 3325227 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065278,nssv17065277 M 35 2 0 PRDM16 HG00171,HG00732 nsv3323622 1 3325228 3325228 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484396 M 14 1 0 PRDM16 HG02818 nsv4045177 1 3325249 3325373 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852378 M 10847 0 1 PRDM16 esv2658512 1 3325300 3325742 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6342267,essv6295141,essv6579467,essv6205377,essv6111677,essv6229268,essv6562101,essv5416482,essv6300687,essv5492481,essv5680358,essv5753076,essv5428889,essv5544323,essv6432957,essv5683921,essv6153056,essv5442746,essv5990793,essv5608926,essv5761519,essv6415451,essv6497657,essv5457541,essv6207899,essv5536391,essv6180680,essv5561326,essv6101588,essv5488483,essv5793609,essv5827153,essv5473193,essv6185499,essv5906030,essv5922207,essv5546149,essv6145497,essv5415576,essv6426264,essv5825626,essv5512898,essv5612429,essv6371198,essv6349013,essv5751828,essv6065680,essv6556662,essv6430636,essv5981317,essv5825792,essv6189238,essv5827967,essv6375990,essv5707079,essv6293451,essv5965811,essv5912664,essv5875312,essv6161183,essv6062443,essv5640915,essv5987102,essv6468293,essv6239558,essv6537650,essv5962612,essv6576147,essv6472020,essv6360850,essv6226057,essv6421345,essv6436961,essv5694021,essv6168011,essv6515768,essv6396674,essv6238029,essv5711992,essv5405859,essv6140912,essv6521454,essv6554556,essv6472486,essv5461948,essv5931372,essv6286815,essv5895839,essv5514782,essv5570301 M 1151 0 90 PRDM16 HG00123,HG00133,HG00342,HG00437,HG01170,HG01204,NA07051,NA11892,NA11893,NA11930,NA11932,NA12340,NA12348,NA12546,NA12778,NA12827,NA12830,NA12842,NA12889,NA18486,NA18499,NA18522,NA18545,NA18548,NA18553,NA18570,NA18595,NA18597,NA18602,NA18606,NA18853,NA18908,NA18912,NA18947,NA18950,NA18956,NA18973,NA19078,NA19107,NA19247,NA19248,NA19313,NA19332,NA19334,NA19350,NA19446,NA19471,NA19473,NA19652,NA19682,NA19684,NA19700,NA19713,NA19789,NA19818,NA19920,NA20507,NA20513,NA20514,NA20521,NA20522,NA20525,NA20526,NA20533,NA20537,NA20581,NA20585,NA20760,NA20761,NA20771,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20798,NA20799,NA20801,NA20803,NA20805,NA20806,NA20809,NA20811,NA20812,NA20816,NA20819,NA20828 nsv1075973 1 3325367 3325419 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769982 M 1 0 1 PRDM16 KWP1 esv3347804 1 3326092 3326790 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692301 M 185 1 0 PRDM16 NA19239 nsv5539570 1 3326463 3326477 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902856 M 3202 1 0 PRDM16 esv1000452 1 3334395 3339966 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565499 M 3 0 1 PRDM16 HuRef nsv4039785 1 3336374 3336437 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852387 M 10847 0 1 PRDM16 nsv5869500 1 3338707 3338771 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382982 M 914 0 1 PRDM16 nsv4444321 1 3344710 3344710 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15758018 M 1 1 0 PRDM16 nsv5607236 1 3344710 3344710 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065283 M 35 1 0 PRDM16 HG00512 nsv3954617 1 3344786 3344786 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187668 M 1 1 0 PRDM16 HG002 nsv4760174 1 3344787 3344787 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16271244 M 25 1 0 PRDM16 nsv3323624 1 3344788 3344788 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480060 M 14 1 0 PRDM16 NA19434 nsv6051276 1 3344833 3344833 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531672 M 405 1 0 PRDM16 nsv3324568 1 3344836 3344836 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475708 M 14 1 0 PRDM16 NA19434 esv4712 1 3349953 3350265 CNV loss Wang_et_al_2008 18987735 Sequencing essv27153 M 1 0 1 PRDM16 YH nsv5609899 1 3350046 3350046 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065287 M 35 1 0 PRDM16 HG00731 nsv5578625 1 3350046 3350123 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065286 M 35 0 1 PRDM16 NA19238 nsv3324974 1 3350047 3350124 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487780,nssv14487858 M 14 0 2 PRDM16 NA19240,NA19434 nsv3281372 1 3350047 3350125 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14409832 M 9 0 1 PRDM16 NA19240 nsv4737814 1 3350067 3350183 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259583 M 25 0 1 PRDM16 nsv5983853 1 3350072 3350188 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525509 M 405 0 1 PRDM16 nsv6053055 1 3350115 3350115 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523017 M 405 1 0 PRDM16 nsv3540531 1 3350188 3350188 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440878 M 9 1 0 PRDM16 HG00733 nsv4046660 1 3350788 3351443 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852414 M 10847 0 1 PRDM16 nsv4536298 1 3352020 3352021 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032125 M 10847 1 0 PRDM16 nsv5423129 1 3354213 3354536 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902857 M 3202 1 0 PRDM16 nsv4052354 1 3356660 3356716 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851124 M 10847 0 1 "" nsv4032724 1 3359121 3359789 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851134 M 10847 0 1 "" nsv4732588 1 3359782 3359856 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16276546 M 25 0 1 "" nsv5623266 1 3359789 3359789 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065288 M 35 1 0 "" NA19238 nsv830203 1 3362938 3524316 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1441863,nssv1441852 M 95 0 2 ARHGEF16,MEGF6,MIR551A nsv5608965 1 3367018 3367018 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065289 M 35 1 0 "" HG00513 nsv160351 1 3367019 3367019 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178929 M 24 "" nsv3324569 1 3367019 3367019 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476825 M 14 1 0 "" HG02106 nsv5983854 1 3367027 3367096 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517918 M 405 0 1 "" nsv4755000 1 3367028 3367028 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16271855 M 25 1 0 "" nsv3064119 1 3367033 3367033 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033564 M 2 1 0 "" NA12878 nsv3534697 1 3367033 3367033 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413058 M 9 1 0 "" HG00514 nsv3323862 1 3367077 3367077 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491965,nssv14488378 M 14 2 0 "" NA12878,NA19240 nsv5606245 1 3367103 3367103 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065290 M 35 1 0 "" HG00513 nsv6052009 1 3367122 3367122 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537136 M 405 1 0 "" nsv3538904 1 3367126 3367126 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383995 M 9 1 0 "" NA19240 nsv3324570 1 3367165 3367165 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490735 M 14 1 0 "" HG00514 nsv3531351 1 3367170 3367170 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413059 M 9 1 0 "" HG00514 nsv545124 1 3368143 3405296 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708843 M 17421 0 1 ARHGEF16,MEGF6 dgv57n152 1 3374703 3437093 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3226764,nsv3221197 M 9 6 0 ARHGEF16,MEGF6 HG00512,HG00513,HG00731,HG00732,HG00733,NA19239 esv3893545 1 3377442 3428608 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25779427 M 3017 0 1 ARHGEF16,MEGF6 nsv5984264 1 3379853 3379977 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522517 M 405 0 1 ARHGEF16 nsv4048392 1 3379856 3379977 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851144 M 10847 0 1 ARHGEF16 nsv475972 1 3380182 3380182 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013178 M 9 1 0 ARHGEF16 NA12878 nsv6327634 1 3381617 3382335 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061022 M 19652 0 1 ARHGEF16 nsv6328979 1 3382906 3383985 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061023 M 19652 0 1 ARHGEF16 nsv476024 1 3383055 3383055 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013501 M 9 1 0 ARHGEF16 NA12878 nsv4041967 1 3385447 3385522 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851153 M 10847 0 1 ARHGEF16 esv3676034 1 3387390 3387463 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497634 M 20 0 1 ARHGEF16 nsv5577898 1 3387427 3387478 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065295 M 35 0 1 ARHGEF16 NA12878 esv3563426 1 3387427 3387479 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9762173 M 767 0 1 ARHGEF16 nsv3323626 1 3387428 3387479 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472238 M 14 0 1 ARHGEF16 NA12878 nsv6054658 1 3387518 3387518 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520831 M 405 1 0 ARHGEF16 nsv3542463 1 3387830 3387830 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413062,nssv14377706 M 9 2 0 ARHGEF16 HG00514,NA19240 nsv3211059 1 3387830 3394811 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259187,nssv14259188,nssv14259182,nssv14259186,nssv14259184,nssv14259183,nssv14259185 M 9 7 0 ARHGEF16 HG00512,HG00513,HG00514,HG00731,HG00732,NA19238,NA19240 nsv6044261 1 3391468 3391468 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529017 M 405 1 0 ARHGEF16 nsv4743002 1 3391475 3391594 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260500 M 25 0 1 ARHGEF16 nsv6053164 1 3391547 3391547 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524204 M 405 1 0 ARHGEF16 nsv5983807 1 3391568 3391784 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519789 M 405 0 1 ARHGEF16 nsv5612585 1 3391606 3391606 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065296,nssv17065297 M 35 2 0 ARHGEF16 HG00513,HG00864 nsv5583959 1 3391616 3391735 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065298 M 35 0 1 ARHGEF16 HG00513 nsv3323627 1 3391618 3391677 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478734 M 14 0 1 ARHGEF16 HG02818 nsv3170825 1 3391622 3391682 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14408137 M 9 0 0 ARHGEF16 NA19240 nsv3323628 1 3391637 3391637 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478356 M 14 1 0 ARHGEF16 HG02059 esv1571906 1 3391645 3391705 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4030830 M 2 0 1 ARHGEF16 HuRef nsv5983857 1 3391852 3392296 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528726 M 405 0 1 ARHGEF16 nsv5983808 1 3391885 3391941 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519418 M 405 0 1 ARHGEF16 nsv5606625 1 3391916 3391916 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065299 M 35 1 0 ARHGEF16 HG03125 nsv3323629 1 3391930 3392049 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483098 M 14 0 1 ARHGEF16 HG00514 nsv5983809 1 3391955 3392065 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527316 M 405 0 1 ARHGEF16 nsv6059453 1 3391965 3391965 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529053 M 405 1 0 ARHGEF16 nsv6050985 1 3392063 3392063 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520810 M 405 1 0 ARHGEF16 nsv6051536 1 3392133 3392133 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522513 M 405 1 0 ARHGEF16 nsv6046478 1 3392210 3392210 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536128 M 405 1 0 ARHGEF16 nsv5983952 1 3392217 3392276 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532349 M 405 0 1 ARHGEF16 nsv6046321 1 3392246 3392246 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518499 M 405 1 0 ARHGEF16 nsv6047484 1 3392296 3392296 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531959 M 405 1 0 ARHGEF16 nsv6047093 1 3392299 3392299 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527199 M 405 1 0 ARHGEF16 nsv3324976 1 3392326 3392326 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480610 M 14 1 0 ARHGEF16 HG02059 nsv6045354 1 3392338 3392338 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524631 M 405 1 0 ARHGEF16 nsv299 1 3393492 3429269 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4519,nssv4678,nssv9111 M 9 3 0 ARHGEF16,MEGF6 NA12156,NA12878,NA19129 esv3355688 1 3393663 3393908 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652084 M 185 1 0 ARHGEF16 NA19240 nsv4755636 1 3393797 3393797 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16267965 M 25 1 0 ARHGEF16 esv3449417 1 3393811 3393872 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808964 M 185 1 0 ARHGEF16 NA12878 nsv4444322 1 3393857 3393857 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762582 M 1 1 0 ARHGEF16 nsv5983953 1 3393857 3393911 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17533594 M 405 1 0 ARHGEF16 nsv3541538 1 3393867 3393867 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413063 M 9 1 0 ARHGEF16 HG00514 nsv3948120 1 3393867 3393867 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187698 M 1 1 0 ARHGEF16 HG002 nsv5609619 1 3393867 3393867 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065301,nssv17065300,nssv17065302 M 35 3 0 ARHGEF16 HG00513,HG00731,HG03732 nsv2801931 1 3393868 3393868 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677815 M 2 1 0 ARHGEF16 nsv3324977 1 3393868 3393868 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483808,nssv14475786,nssv14474374,nssv14481437,nssv14474564 M 14 5 0 ARHGEF16 CHM1,CHM13,HG00268,HG02059,NA19434 nsv3533608 1 3393880 3393880 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392315,nssv14440879 M 9 2 0 ARHGEF16 HG00733,NA19240 nsv3324571 1 3393882 3393882 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473701,nssv14482764 M 14 2 0 ARHGEF16 HG00514,HG02818 nsv6045643 1 3393894 3393894 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521711 M 405 1 0 ARHGEF16 nsv1012423 1 3394250 4807509 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696759 M 11257 1 0 AJAP1,ARHGEF16,C1orf174,CCDC27,CEP104,DFFB,LINC01134,LOC284661,LOC728716,LRRC47,MEGF6,MIR551A,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 nsv5883036 1 3397453 3397637 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374944 M 914 0 1 ARHGEF16 nsv5419693 1 3399052 3399102 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902859 M 3202 1 0 "" nsv4032498 1 3399996 3407971 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851167 M 10847 0 1 MEGF6 nsv3561658 1 3401062 3401062 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392433 M 9 1 0 "" NA19239 nsv5609052 1 3401062 3401062 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065311 M 35 1 0 "" NA19239 nsv5425331 1 3401062 3401126 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902860 M 3202 1 0 "" esv3368997 1 3401063 3401063 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8825207 M 185 1 0 "" NA19240 dgv7n67 1 3401073 3405662 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv825031,nsv825142,nsv825364 M 31 3 0 MEGF6 NA18542,NA18951,NA18973 nsv825253 1 3401073 3405924 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434860 M 31 0 1 MEGF6 NA18942 nsv3179476 1 3401103 3401167 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384168 M 9 0 0 "" NA19240 nsv5433399 1 3403632 3403724 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902862 M 3202 0 1 "" nsv545125 1 3407007 3457295 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708844 M 17421 0 1 MEGF6 nsv5565668 1 3409699 3409761 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065135 M 35 0 1 MEGF6 HG00731 nsv3324295 1 3409700 3409762 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490309 M 14 0 1 MEGF6 HG02106 nsv3280387 1 3409700 3409763 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14435552 M 9 0 1 MEGF6 HG00514 nsv4745019 1 3409714 3409777 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16284701 M 25 0 1 MEGF6 nsv5983811 1 3409729 3409793 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530246 M 405 0 1 MEGF6 nsv5870173 1 3409776 3409943 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381228 M 914 0 1 MEGF6 nsv5427388 1 3413617 3414096 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902871 M 3202 0 1 MEGF6 nsv4034478 1 3413617 3414168 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852043 M 10847 0 1 MEGF6 nsv3222896 1 3414431 3420784 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259736,nssv14259737,nssv14259734,nssv14259735,nssv14259739,nssv14259738 M 9 6 0 MEGF6 HG00513,HG00514,HG00731,HG00733,NA19238,NA19240 esv3417230 1 3418297 3418875 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808966 M 185 1 0 MEGF6 NA12878 nsv3199480 1 3418430 3418617 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375446 M 9 0 1 MEGF6 NA19238 nsv1120184 1 3418554 3418613 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960947 M 2 1 0 MEGF6 KWS1 esv2862902 1 3418554 3418668 CNV duplication Pang_et_al_2013b 24192839 Sequencing essv7132469 M 1 1 0 MEGF6 HuRef nsv1153001 1 3418555 3418637 CNV insertion John_et_al_2014 26484159 Sequencing nssv3998036 M 1 1 0 MEGF6 KWB1 nsv5983860 1 3418555 3418677 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17528191 M 405 1 0 MEGF6 nsv3060811 1 3418556 3418556 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025030 M 2 1 0 MEGF6 CHM1 esv3667323 1 3418581 3418581 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16489795 M 20 1 0 MEGF6 nsv3949819 1 3418581 3418581 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187703,nssv15187708 M 1 1 0 MEGF6 HG002 nsv5619278 1 3418581 3418581 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065139,nssv17065138,nssv17065140 M 35 3 0 MEGF6 HG00731,HG00732,HG02011 nsv1140403 1 3418581 3418660 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979109 M 2 1 0 MEGF6 KWS2 nsv5433869 1 3418581 3418663 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902882 M 3202 1 0 MEGF6 nsv2802101 1 3418582 3418582 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681514,nssv13679186 M 2 2 0 MEGF6 nsv3539323 1 3418589 3418589 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374807,nssv14413064 M 9 2 0 MEGF6 HG00514,NA19240 nsv3539014 1 3418590 3418590 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440880 M 9 1 0 MEGF6 HG00733 esv3352832 1 3418604 3418692 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652085 M 185 1 0 MEGF6 NA19240 nsv5615388 1 3418609 3418609 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065141 M 35 1 0 MEGF6 NA19239 esv1595391 1 3418613 3418613 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3895480 M 2 1 0 MEGF6 HuRef nsv6058691 1 3418650 3418650 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525225 M 405 1 0 MEGF6 nsv3542852 1 3418651 3418651 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440882,nssv14440881,nssv14413065,nssv14389240 M 9 3 0 MEGF6 HG00514,HG00733,NA19240 nsv1009360 1 3420135 3540212 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467524 M 11257 1 0 MEGF6,MIR551A esv3686261 1 3421585 3421585 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470711 M 20 1 0 MEGF6 nsv5608469 1 3426906 3426906 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065143 M 35 1 0 MEGF6 HG00864 nsv4758701 1 3426916 3426916 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288835 M 25 1 0 MEGF6 nsv6058476 1 3426976 3426976 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524114 M 405 1 0 MEGF6 nsv1135753 1 3427059 3427117 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989337 M 2 0 1 MEGF6 KWS2 nsv4048943 1 3429894 3430240 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852061 M 10847 0 1 MEGF6 dgv17n166 1 3433702 3460092 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4046911,nsv4039089 M 10847 0 2 MEGF6 nsv4043423 1 3435831 3448713 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852082 M 10847 0 1 MEGF6 nsv6326275 1 3437463 3485854 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202423 M 19652 1 0 MEGF6,MIR551A nsv818333 1 3441264 3456871 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417807 M 112 0 1 MEGF6 NA18853 nsv10494 1 3446134 3451956 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv21444,nssv21442 M 31 0 2 MEGF6 NA18942,NA18975 nsv6316053 1 3446499 3451863 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061057 M 19652 0 1 MEGF6 nsv1142741 1 3447400 3448500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994240 M 2 0 1 MEGF6 KWS1 nsv519082 1 3455757 3456592 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv696553 M 2026 1 0 MEGF6 nsv545126 1 3455757 3499246 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708845 M 17421 0 1 MEGF6,MIR551A nsv6321601 1 3457425 3457838 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061061 M 19652 0 1 MEGF6 nsv5608306 1 3460741 3460741 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065154 M 35 1 0 MEGF6 HG03486 nsv5874695 1 3460938 3461033 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17370218 M 914 0 1 MEGF6 nsv4035883 1 3460941 3461034 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852097 M 10847 0 1 MEGF6 nsv6040983 1 3463111 3463111 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521207 M 405 1 0 MEGF6 nsv6051002 1 3463160 3463160 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518084 M 405 1 0 MEGF6 nsv4745816 1 3463208 3463348 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270258 M 25 0 1 MEGF6 nsv6052710 1 3463265 3463265 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530348 M 405 1 0 MEGF6 nsv4048928 1 3463422 3463498 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852105 M 10847 0 1 MEGF6 nsv5616083 1 3463428 3463428 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065156 M 35 1 0 MEGF6 HG03486 nsv5584106 1 3463428 3463497 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065155 M 35 0 1 MEGF6 HG00096 nsv4039674 1 3470344 3470800 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852113 M 10847 0 1 MEGF6 nsv5414149 1 3470344 3470800 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902904 M 3202 0 1 MEGF6 nsv474159 1 3473389 3473389 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014646 M 9 1 0 MEGF6 NA18507 nsv1004180 1 3474631 3540212 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468122 M 11257 1 0 MEGF6,MIR551A nsv545127 1 3480149 3499246 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708846 M 17421 0 1 MEGF6 nsv5581461 1 3481851 3481915 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065161 M 35 0 1 MEGF6 NA19239 nsv5884858 1 3481851 3481915 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374863 M 914 0 1 MEGF6 nsv3526095 1 3481851 3481916 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389840 M 9 0 1 MEGF6 NA19239 nsv4047537 1 3481851 3481916 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852681 M 10847 0 1 MEGF6 nsv5425263 1 3481851 3481916 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902908 M 3202 0 1 MEGF6 nsv6319336 1 3483556 3491100 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061071 M 19652 0 1 MEGF6 nsv5963136 1 3484910 3484910 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17387152 M 914 1 0 MEGF6 nsv818444 1 3487126 3510633 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417551 M 112 0 1 MEGF6 NA18971 nsv4517706 1 3488193 3489400 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963618 M 10847 1 0 MEGF6 nsv5583111 1 3488273 3488329 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065162 M 35 0 1 MEGF6 NA19238 nsv5886378 1 3488273 3488329 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383185 M 914 0 1 MEGF6 esv3563537 1 3488273 3488330 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9762284 M 767 0 1 MEGF6 nsv3525579 1 3488273 3488330 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375666,nssv14387896 M 9 0 2 MEGF6 NA19238,NA19240 esv3676137 1 3488273 3488331 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497727 M 20 0 1 MEGF6 nsv3324983 1 3488274 3488330 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472657,nssv14489050 M 14 0 2 MEGF6 NA19240,NA19434 nsv3179482 1 3488274 3488331 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14407763 M 9 0 0 MEGF6 NA19240 nsv5984045 1 3488275 3488333 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531219 M 405 0 1 MEGF6 nsv5869843 1 3488291 3488597 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17371614 M 914 0 1 MEGF6 nsv5610522 1 3488371 3488371 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065163 M 35 1 0 MEGF6 NA20847 nsv6045259 1 3488371 3488371 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533720 M 405 1 0 MEGF6 nsv2801843 1 3488378 3488378 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680764 M 2 1 0 MEGF6 nsv3324582 1 3488378 3488378 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486736 M 14 1 0 MEGF6 CHM13 nsv4517447 1 3488730 3488972 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852690 M 10847 0 1 MEGF6 nsv5572092 1 3488853 3488910 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065164 M 35 0 1 MEGF6 HG00512 nsv5984046 1 3488853 3488913 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527555 M 405 0 1 MEGF6 esv3676166 1 3488873 3488950 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497753 M 20 0 1 MEGF6 nsv3282432 1 3489302 3489361 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14409399 M 9 0 1 MEGF6 NA19240 nsv3531568 1 3489391 3489391 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383140 M 9 1 0 MEGF6 NA19240 nsv5984275 1 3489443 3489518 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521160 M 405 0 1 MEGF6 nsv4746739 1 3489454 3489530 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273548 M 25 0 1 MEGF6 nsv5984047 1 3493441 3493567 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521016 M 405 0 1 MEGF6 nsv5565859 1 3493478 3493548 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065165 M 35 0 1 MEGF6 HG03065 nsv3535208 1 3495041 3495041 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413066 M 9 1 0 MEGF6 HG00514 nsv3227089 1 3495041 3503836 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259781,nssv14259779,nssv14259776,nssv14259775,nssv14259777,nssv14259778,nssv14259780 M 9 7 0 MEGF6 HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5405526 1 3495298 3495348 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683891 M 3202 1 0 MEGF6 nsv1132823 1 3495303 3495360 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987616 M 2 1 0 MEGF6 KWS1 nsv1140107 1 3495306 3495384 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3978819 M 2 1 0 MEGF6 KWS2 esv1003247 1 3495308 3495308 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570647 M 3 1 0 MEGF6 HuRef esv3686478 1 3495309 3495309 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470907 M 20 1 0 MEGF6 nsv3951408 1 3495309 3495309 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187745 M 1 1 0 MEGF6 HG002 nsv4444323 1 3495309 3495309 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15756341 M 1 1 0 MEGF6 nsv5620946 1 3495309 3495309 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065166 M 35 1 0 MEGF6 HG00731 nsv2801199 1 3495310 3495310 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13707246 M 2 1 0 MEGF6 nsv3324984 1 3495310 3495310 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491359,nssv14482808,nssv14473696,nssv14473250,nssv14484057,nssv14472220,nssv14489051,nssv14483696,nssv14474443,nssv14487134,nssv14478631 M 14 11 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240 nsv3180916 1 3495310 3495401 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388586 M 9 0 0 MEGF6 NA19240 nsv3324299 1 3495310 3495401 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476911 M 14 0 1 MEGF6 HG02059 nsv5883121 1 3495324 3495414 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17378665 M 914 1 0 MEGF6 nsv5886911 1 3495325 3495415 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17389285 M 914 0 1 MEGF6 esv1491138 1 3495329 3495329 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3621012 M 2 1 0 MEGF6 HuRef nsv4753423 1 3495333 3495333 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16263760 M 25 1 0 MEGF6 nsv5684962 1 3495348 3495348 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203575,nssv17181087 M 3202 2 0 MEGF6 nsv4534143 1 3495348 3495349 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032134 M 10847 1 0 MEGF6 esv3686546 1 3495369 3495369 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16470969 M 20 1 0 MEGF6 nsv5614994 1 3495369 3495369 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065167 M 35 1 0 MEGF6 HG02587 nsv3323868 1 3495370 3495370 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483427 M 14 1 0 MEGF6 NA19240 nsv5613961 1 3495378 3495378 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065168 M 35 1 0 MEGF6 HG02011 nsv1146093 1 3495385 3495468 CNV insertion John_et_al_2014 26484159 Sequencing nssv3999297 M 1 1 0 MEGF6 KWB1 nsv3173785 1 3495408 3495589 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376735 M 9 0 0 MEGF6 NA19240 esv3671809 1 3495417 3495526 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16493831 M 20 0 0 MEGF6 nsv3324300 1 3495438 3495438 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476434 M 14 1 0 MEGF6 NA19434 nsv4460835 1 3495439 3495440 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032144 M 10847 1 0 MEGF6 nsv6042541 1 3495446 3495446 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525855 M 405 1 0 MEGF6 nsv3181317 1 3495452 3495543 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440883,nssv14413067 M 9 0 0 MEGF6 HG00514,HG00733 nsv5410787 1 3495454 3495505 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902911 M 3202 1 0 MEGF6 nsv3051707 1 3495457 3495457 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14030508 M 2 1 0 MEGF6 NA12878 nsv3324583 1 3495461 3495461 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483559 M 14 1 0 MEGF6 NA19434 nsv3211573 1 3498744 3510591 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14266458,nssv14266459,nssv14266460 M 9 3 0 MEGF6 HG00512,NA19239,NA19240 nsv3171529 1 3498922 3501450 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14459277,nssv14457276 M 9 0 0 MEGF6 HG00733 esv2470115 1 3499392 3502772 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5366115 M 1 0 1 MEGF6 NA18507 esv28730 1 3499732 3500631 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13258 M 40 0 3 MEGF6 NA12489,NA18861,NA18916 nsv3324584 1 3499826 3499879 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478117 M 14 0 1 MEGF6 HG02059 nsv5605015 1 3499834 3499834 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065170 M 35 1 0 MEGF6 HG00513 nsv6055933 1 3499859 3499859 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535219 M 405 1 0 MEGF6 nsv3540963 1 3499862 3499862 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413068 M 9 1 0 MEGF6 HG00514 nsv5984277 1 3499868 3500402 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17518741 M 405 1 0 MEGF6 nsv3324301 1 3499869 3499869 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14473604 M 14 1 0 MEGF6 HG01352 nsv3051708 1 3499887 3499887 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14026939 M 2 1 0 MEGF6 NA12878 nsv5613069 1 3499888 3499888 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065172 M 35 1 0 MEGF6 NA19238 nsv5580861 1 3499888 3499977 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065171 M 35 0 1 MEGF6 HG00732 nsv5984191 1 3499888 3500028 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518200 M 405 0 1 MEGF6 nsv2801200 1 3499905 3499905 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676542 M 2 1 0 MEGF6 nsv2802104 1 3499923 3499923 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690001 M 2 1 0 MEGF6 nsv3324585 1 3499923 3499923 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486937,nssv14481162,nssv14479119,nssv14490087,nssv14488155,nssv14477015,nssv14474805 M 14 7 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,NA19240 nsv5621746 1 3499924 3499924 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065173 M 35 1 0 MEGF6 HG01114 nsv2802105 1 3499943 3499943 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677006 M 2 1 0 MEGF6 nsv3323869 1 3499961 3500050 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479692,nssv14477418,nssv14487412 M 14 0 3 MEGF6 HG02059,HG02818,NA19434 nsv3542274 1 3499970 3499970 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413069 M 9 1 0 MEGF6 HG00514 nsv3538569 1 3499976 3499976 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382770 M 9 1 0 MEGF6 NA19240 nsv2801201 1 3499978 3499978 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691160 M 2 1 0 MEGF6 nsv3324985 1 3499978 3499978 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481761,nssv14487144,nssv14484266,nssv14473545,nssv14488381,nssv14478054,nssv14476915,nssv14476802,nssv14491197,nssv14491658,nssv14472255,nssv14486394 M 14 12 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 nsv2802106 1 3499979 3499979 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695576 M 2 1 0 MEGF6 esv3668876 1 3499995 3500327 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16491193 M 20 0 0 MEGF6 nsv3938251 1 3500000 3500000 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187754 M 1 1 0 MEGF6 HG002 nsv2802107 1 3500013 3500013 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683737,nssv13692807 M 2 2 0 MEGF6 nsv3323870 1 3500013 3500013 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473934,nssv14485518,nssv14473251,nssv14476096,nssv14482443,nssv14484424,nssv14486365,nssv14481820,nssv14488297,nssv14490602,nssv14491231,nssv14491307 M 14 12 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 nsv5615718 1 3500014 3500014 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064783 M 35 1 0 MEGF6 HG00731 esv1062679 1 3500027 3500099 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4165604 M 2 0 1 MEGF6 HuRef nsv3064120 1 3500037 3500037 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035296 M 2 1 0 MEGF6 NA12878 nsv6043709 1 3500079 3500079 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531868 M 405 1 0 MEGF6 nsv3324302 1 3500087 3500087 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488784 M 14 1 0 MEGF6 NA19434 nsv5624388 1 3500102 3500102 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064784 M 35 1 0 MEGF6 HG03683 nsv3324303 1 3500123 3500123 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490424 M 14 1 0 MEGF6 HG00514 nsv3937104 1 3500140 3500140 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15187782 M 1 1 0 MEGF6 HG002 nsv3324986 1 3500177 3500177 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474499 M 14 1 0 MEGF6 HG00514 nsv3053586 1 3500181 3500181 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032362 M 2 1 0 MEGF6 NA12878 nsv3324987 1 3500209 3500209 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480910,nssv14490483,nssv14473155 M 14 3 0 MEGF6 HG00268,HG00514,NA19434 nsv5607111 1 3500230 3500230 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064786 M 35 1 0 MEGF6 HG03486 nsv5576649 1 3500230 3500325 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064785 M 35 0 1 MEGF6 HG00732 nsv3537141 1 3500241 3500241 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413070 M 9 1 0 MEGF6 HG00514 nsv5983864 1 3500252 3500389 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523317 M 405 0 1 MEGF6 nsv3324988 1 3500264 3500264 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472123,nssv14484132,nssv14486956,nssv14484968 M 14 4 0 MEGF6 HG00268,HG00514,HG00733,NA19434 nsv2801933 1 3500265 3500265 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687395,nssv13688987 M 2 2 0 MEGF6 nsv3324304 1 3500265 3500265 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488201,nssv14490472,nssv14483240,nssv14477909,nssv14485701,nssv14483654,nssv14482746,nssv14486869,nssv14475272,nssv14488963,nssv14491911 M 14 11 0 MEGF6 CHM1,CHM13,HG00268,HG00733,HG01352,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 nsv3324989 1 3500303 3500380 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474965 M 14 0 1 MEGF6 HG02818 nsv5581629 1 3500318 3500395 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064787 M 35 0 1 MEGF6 HG00096 nsv3532120 1 3500326 3500326 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413071 M 9 1 0 MEGF6 HG00514 nsv3952488 1 3500326 3500326 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15188600,nssv15187783 M 1 1 0 MEGF6 HG002 nsv5605184 1 3500326 3500326 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064790,nssv17064788,nssv17064791,nssv17064789 M 35 4 0 MEGF6 HG00512,HG00731,HG00733,HG03683 nsv2801202 1 3500327 3500327 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13709695 M 2 1 0 MEGF6 nsv6057283 1 3500327 3500327 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537460 M 405 1 0 MEGF6 nsv5984278 1 3500384 3500461 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520508 M 405 0 1 MEGF6 nsv3541301 1 3500390 3500390 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413073 M 9 1 0 MEGF6 HG00514 nsv5605676 1 3500396 3500396 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064792 M 35 1 0 MEGF6 HG03683 nsv3323871 1 3500415 3500415 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481618,nssv14485405,nssv14486821,nssv14487485,nssv14486332,nssv14487806 M 14 6 0 MEGF6 HG00268,HG00514,HG01352,HG02106,HX1,NA12878 nsv2801203 1 3500450 3500450 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13700585 M 2 1 0 MEGF6 nsv3323872 1 3500450 3500450 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487955,nssv14483867,nssv14480012,nssv14487018,nssv14490501,nssv14477357,nssv14478182,nssv14479634,nssv14488488,nssv14479391,nssv14478756 M 14 11 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 nsv3539622 1 3500461 3500461 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413074 M 9 1 0 MEGF6 HG00514 nsv1128585 1 3501300 3502900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960496 M 2 1 0 MEGF6 KWS1 esv3563648 1 3501599 3501823 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9762395 M 767 0 1 MEGF6 nsv5573925 1 3501600 3501817 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064795 M 35 0 1 MEGF6 HG00512 nsv5876609 1 3501600 3501817 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385156 M 914 0 1 MEGF6 nsv3192696 1 3501600 3501818 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377470 M 9 0 1 MEGF6 HG00512 nsv4746401 1 3501600 3501818 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268212 M 25 0 1 MEGF6 nsv5984048 1 3501603 3501819 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531544 M 405 0 1 MEGF6 nsv5420543 1 3501614 3501802 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902920 M 3202 0 1 MEGF6 nsv4048151 1 3501614 3502215 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852699 M 10847 0 1 MEGF6 esv2672292 1 3501678 3502157 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6292374,essv5787617,essv6420111,essv5553326,essv5907773,essv5416542,essv5820942,essv6141781 M 1151 0 8 MEGF6 HG00442,HG00512,NA18545,NA18632,NA18956,NA18973,NA18987,NA19130 esv3413189 1 3501792 3503090 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692303 M 185 1 0 MEGF6 NA19240 nsv5984049 1 3501974 3502029 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523412 M 405 0 1 MEGF6 esv3585042 1 3502139 4320143 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841974,essv9841973 M 2504 2 0 C1orf174,CCDC27,CEP104,DFFB,LINC01134,LOC728716,LRRC47,MEGF6,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 HG02481,NA20872 nsv5428297 1 3502139 4320146 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902931 M 3202 1 0 C1orf174,CCDC27,CEP104,DFFB,LINC01134,LOC728716,LRRC47,MEGF6,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 nsv5983865 1 3502470 3502523 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534931 M 405 0 1 MEGF6 nsv6056765 1 3502680 3502680 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537398 M 405 1 0 MEGF6 nsv5580581 1 3502711 3502762 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064796 M 35 0 1 MEGF6 HG03486 nsv4444324 1 3504404 3504404 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15760182 M 1 1 0 MEGF6 nsv3532800 1 3504421 3504421 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390975 M 9 1 0 MEGF6 NA19240 nsv3945109 1 3504421 3504421 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15188632 M 1 1 0 MEGF6 HG002 nsv5609493 1 3504421 3504421 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064797 M 35 1 0 MEGF6 HG00731 nsv2801934 1 3504422 3504422 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13697185 M 2 1 0 MEGF6 nsv3323873 1 3504422 3504422 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486255,nssv14480382,nssv14475990,nssv14484034,nssv14472283,nssv14478194,nssv14487223,nssv14484566,nssv14484641,nssv14485715,nssv14488718 M 14 11 0 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02818,HG04217,NA12878,NA19240,NA19434 nsv3536881 1 3504424 3504424 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413075 M 9 1 0 MEGF6 HG00514 nsv3064121 1 3504427 3504427 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14037030 M 2 1 0 MEGF6 NA12878 nsv3535942 1 3504440 3504440 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413076 M 9 1 0 MEGF6 HG00514 nsv6045355 1 3504445 3504445 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521296 M 405 1 0 MEGF6 esv1072885 1 3504446 3504446 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4183764 M 2 1 0 MEGF6 HuRef nsv160325 1 3504447 3504447 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178903 M 24 MEGF6 nsv5612772 1 3504448 3504448 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064798 M 35 1 0 MEGF6 HG00864 nsv3056805 1 3504450 3504450 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14024327 M 2 1 0 MEGF6 CHM1 nsv5543894 1 3504457 3504487 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902942 M 3202 1 0 MEGF6 nsv3532913 1 3504476 3504476 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440884 M 9 1 0 MEGF6 HG00733 nsv3324991 1 3504481 3504481 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474756 M 14 1 0 MEGF6 NA19434 nsv1075038 1 3504499 3505300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764892 M 1 0 1 MEGF6 KWP1 nsv1142742 1 3504500 3505100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994241 M 2 0 1 MEGF6 KWS1 nsv3324587 1 3504676 3504726 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484648,nssv14488427,nssv14490283 M 14 0 3 MEGF6 HG02059,HG04217,NA19434 nsv3535233 1 3504712 3504712 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440886 M 9 1 0 MEGF6 HG00733 nsv6046785 1 3504730 3504730 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522089 M 405 1 0 MEGF6 nsv5608333 1 3504770 3504770 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064799 M 35 1 0 MEGF6 HG00732 nsv5616379 1 3504840 3504840 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064800 M 35 1 0 MEGF6 HG00512 nsv6048050 1 3504896 3504896 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523941 M 405 1 0 MEGF6 nsv6055685 1 3504946 3504946 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521386 M 405 1 0 MEGF6 nsv3541228 1 3505088 3505088 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440887 M 9 1 0 MEGF6 HG00733 nsv6138797 1 3507385 3507467 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902953 M 3202 1 0 MEGF6 nsv5619420 1 3507389 3507389 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064802 M 35 1 0 MEGF6 HG00512 nsv5962385 1 3507389 3507389 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17386228 M 914 1 0 MEGF6 nsv6334267 1 3507389 3507459 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202431 M 19652 1 0 MEGF6 nsv4034802 1 3507389 3507465 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963667 M 10847 1 0 MEGF6 nsv4767732 1 3507392 3507392 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284771 M 25 1 0 MEGF6 nsv4737863 1 3507392 3507712 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16287909 M 25 1 0 MEGF6 nsv6050943 1 3507437 3507437 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537429 M 405 1 0 MEGF6 nsv5611993 1 3507673 3507673 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064803 M 35 1 0 MEGF6 NA12329 nsv5983866 1 3508188 3508250 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521957 M 405 0 1 MEGF6 nsv160986 1 3508189 3508254 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179564 M 24 MEGF6 nsv160621 1 3508211 3508276 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179199 M 24 MEGF6 nsv5984280 1 3508311 3508378 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528212 M 405 0 1 MEGF6 nsv4745914 1 3508311 3508379 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259790 M 25 0 1 MEGF6 nsv5576247 1 3508320 3508385 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064804 M 35 0 1 MEGF6 HG00731 nsv3938744 1 3508320 3508386 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15178760 M 1 0 1 MEGF6 HG002 nsv4449084 1 3508320 3508386 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15757312 M 1 0 1 MEGF6 esv3676338 1 3508320 3508387 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497908 M 20 0 1 MEGF6 nsv2801844 1 3508321 3508386 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13708034 M 2 0 1 MEGF6 nsv3324992 1 3508321 3508386 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478968,nssv14491702,nssv14474939,nssv14486013,nssv14482306,nssv14487603,nssv14473711,nssv14483106,nssv14472247,nssv14489366 M 14 0 10 MEGF6 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG04217,NA12878,NA19240,NA19434 nsv3184797 1 3508321 3508387 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14410277 M 9 0 0 MEGF6 NA19240 nsv3173635 1 3508346 3508412 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14461795 M 9 0 0 MEGF6 HG00733 nsv3181382 1 3508384 3508436 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14434349 M 9 0 0 MEGF6 HG00514 nsv1140736 1 3508401 3508451 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992242 M 2 0 1 MEGF6 KWS1 esv1645766 1 3508420 3508486 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4161797 M 2 0 1 MEGF6 HuRef esv3585043 1 3508964 3515259 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841975 M 2504 0 1 MEGF6 HG03571 nsv5429735 1 3509138 3515247 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902975 M 3202 0 1 MEGF6 nsv4042524 1 3509138 3515263 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852707 M 10847 0 1 MEGF6 nsv5624451 1 3511680 3511680 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064805 M 35 1 0 MEGF6 NA12329 nsv4444325 1 3512987 3512987 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15763067 M 1 1 0 MEGF6 nsv5878579 1 3513003 3513238 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17379760 M 914 0 1 MEGF6 nsv4759287 1 3513012 3513012 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16266426 M 25 1 0 MEGF6 esv3676369 1 3513028 3513249 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497936 M 20 0 1 MEGF6 nsv5616952 1 3513048 3513048 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064806,nssv17064807 M 35 2 0 MEGF6 HG00732,NA24385 nsv5983867 1 3513060 3513148 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523463 M 405 0 1 MEGF6 nsv6052305 1 3513113 3513113 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522231 M 405 1 0 MEGF6 nsv3324305 1 3513116 3513116 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478701,nssv14478449 M 14 2 0 MEGF6 HG02818,NA19434 nsv3530239 1 3513133 3513133 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440888 M 9 1 0 MEGF6 HG00733 nsv3324589 1 3513233 3513233 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475948,nssv14473407 M 14 2 0 MEGF6 HG02818,HX1 nsv3929094 1 3513246 3513246 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15188644 M 1 1 0 MEGF6 HG002 nsv1132824 1 3513321 3513398 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987617 M 2 1 0 MEGF6 KWS1 dgv26e59 1 3521092 3522390 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3363109,esv3391335 M 185 2 0 MEGF6 NA19239,NA19240 esv3585044 1 3527608 3553912 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841976 M 2504 1 0 MEGF6,TPRG1L,WRAP73 NA20872 esv3585045 1 3527725 3603484 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841977 M 2504 1 0 MEGF6,TP73,TPRG1L,WRAP73 NA20872 nsv6543481 1 3527843 3533749 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251042 M 19652 0 0 MEGF6 nsv5605905 1 3528835 3528835 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064810 M 35 1 0 "" HG03486 nsv5882624 1 3528835 3528924 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17378675 M 914 1 0 "" nsv4051611 1 3528835 3528926 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963676 M 10847 1 0 "" nsv5984281 1 3530388 3530444 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529521 M 405 0 1 "" nsv4051557 1 3530637 3532788 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852715 M 10847 0 1 "" nsv6321211 1 3530637 3532788 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060723 M 19652 0 1 "" nsv6331785 1 3534870 3540421 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202438 M 19652 1 0 "" nsv4034448 1 3540107 3540314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852722 M 10847 0 1 "" nsv6324101 1 3541912 3695520 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061145 M 19652 0 1 CCDC27,SMIM1,TP73,TP73-AS1,TPRG1L,WRAP73 nsv4045249 1 3543460 3543563 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852730 M 10847 0 1 TPRG1L nsv1001715 1 3544183 3686318 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481065 M 11257 0 1 CCDC27,TP73,TP73-AS1,TPRG1L,WRAP73 nsv545128 1 3546935 3616601 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708847 M 17421 0 1 TP73,WRAP73 nsv6330473 1 3549704 3565044 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202442 M 19652 1 0 WRAP73 nsv410 1 3551651 3583644 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10069 M 9 1 0 TP73,WRAP73 NA18956 nsv4731670 1 3552813 3552890 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16284199 M 25 0 1 WRAP73 dgv5n145 1 3555147 3569991 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nsv3113852,nsv3111678 M 467 3 0 TP73,WRAP73 sample275,sample296,sample300 nsv5616202 1 3556253 3556253 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064819 M 35 1 0 WRAP73 NA19238 nsv5568054 1 3556256 3556315 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064820 M 35 0 1 WRAP73 NA19239 nsv5870768 1 3556256 3556315 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375634 M 914 0 1 WRAP73 dgv58n152 1 3556256 3556316 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3193506,nsv3192486 M 9 0 1 WRAP73 NA19240 esv3676400 1 3556256 3556317 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497964 M 20 0 1 WRAP73 nsv3324306 1 3556257 3556316 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487345,nssv14490135 M 14 0 2 WRAP73 HG02818,NA19240 nsv5984057 1 3556273 3556330 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525606 M 405 0 1 WRAP73 nsv3323875 1 3556317 3556317 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472794 M 14 1 0 WRAP73 NA19434 esv2247294 1 3556844 3557317 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4665883 M 1 0 1 WRAP73 NA18507 nsv5984058 1 3557008 3557083 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532881 M 405 0 1 WRAP73 nsv5579742 1 3557053 3557163 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064821 M 35 0 1 WRAP73 HG03486 nsv3114039 1 3558454 3562467 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14097020 M 467 0 1 WRAP73 sample349 esv2489412 1 3559736 3561398 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5381740 M 1 0 1 WRAP73 NA18507 nsv4449085 1 3560092 3560601 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15767975 M 1 0 1 WRAP73 nsv5984059 1 3560124 3560175 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524500 M 405 0 1 WRAP73 nsv5617206 1 3560141 3560141 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064826,nssv17064825 M 35 2 0 WRAP73 HG02818,HG03065 nsv5579777 1 3560141 3560293 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064824 M 35 0 1 WRAP73 HG00731 nsv4749620 1 3560141 3560302 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16265989 M 25 0 1 WRAP73 nsv2801936 1 3560142 3560243 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13688127 M 2 0 1 WRAP73 nsv3280296 1 3560142 3560244 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14436364 M 9 0 1 WRAP73 HG00514 nsv2801846 1 3560142 3560294 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13691334 M 2 0 1 WRAP73 nsv3324993 1 3560142 3560294 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490385,nssv14475252,nssv14480767,nssv14491250,nssv14480274,nssv14488724,nssv14473821,nssv14490433 M 14 0 8 WRAP73 CHM1,CHM13,HG00268,HG00514,HG00733,HX1,NA12878,NA19434 nsv3279960 1 3560142 3560295 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14459326 M 9 0 1 WRAP73 HG00733 nsv3324994 1 3560142 3560549 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474652,nssv14479537,nssv14490319 M 14 0 3 WRAP73 HG01352,HG04217,NA19240 dgv59n152 1 3560142 3560601 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280885,nsv3280002 M 9 0 2 WRAP73 HG00514,NA19240 nsv6137971 1 3560181 3560954 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903001 M 3202 0 1 WRAP73 dgv60n152 1 3560240 3560916 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3199717,nsv3526223 M 9 0 9 WRAP73 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv29463 1 3560245 3560955 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11696 M 40 0 1 WRAP73 NA15510 esv2853680 1 3560257 3560971 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7123247 M 1 0 1 WRAP73 HuRef nsv3181348 1 3560321 3560371 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14434422 M 9 0 0 WRAP73 HG00514 esv3676431 1 3560376 3560938 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16497992 M 20 0 1 WRAP73 nsv5565854 1 3560427 3560936 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064827 M 35 0 1 WRAP73 HG00732 nsv3953983 1 3560427 3560937 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15178779 M 1 0 1 WRAP73 HG002 nsv5983869 1 3560436 3560868 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535470 M 405 0 1 WRAP73 esv1007908 1 3560447 3560956 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3571323 M 3 0 1 WRAP73 HuRef nsv5579031 1 3560677 3560828 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064828 M 35 0 1 WRAP73 NA20509 nsv5984195 1 3560792 3560968 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518127 M 405 0 1 WRAP73 nsv3324307 1 3560887 3560937 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477769,nssv14473646 M 14 0 2 WRAP73 HG00514,HG04217 nsv3181372 1 3560887 3560938 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14436144 M 9 0 0 WRAP73 HG00514 nsv5579255 1 3560934 3560984 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064829 M 35 0 1 WRAP73 NA19239 nsv3324308 1 3560948 3560998 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486594,nssv14472666,nssv14479074 M 14 0 3 WRAP73 HG01352,NA19240,NA19434 nsv3188459 1 3560949 3561000 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14410056 M 9 0 0 WRAP73 NA19240 nsv3114318 1 3561099 3569991 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nssv14097721 M 467 1 0 TP73,WRAP73 sample372 nsv5583235 1 3561905 3561980 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064830 M 35 0 1 WRAP73 HG00732 nsv3932491 1 3561905 3561981 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15178792 M 1 0 1 WRAP73 HG002 nsv4743561 1 3561917 3561992 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16292435 M 25 0 1 WRAP73 nsv5983870 1 3561950 3562016 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530817 M 405 0 1 WRAP73 nsv5607355 1 3561996 3561996 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064831 M 35 1 0 WRAP73 NA19238 nsv3324309 1 3561997 3561997 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475474 M 14 1 0 WRAP73 NA19240 nsv3539725 1 3562037 3562037 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379394 M 9 1 0 WRAP73 NA19240 nsv4050325 1 3563994 3564097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852746 M 10847 0 1 WRAP73 nsv4559394 1 3573526 3573527 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032154 M 10847 1 0 TP73 nsv4749047 1 3575362 3575470 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16264375 M 25 0 1 TP73 nsv5984060 1 3575387 3575490 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534053 M 405 0 1 TP73 nsv830314 1 3577340 3720839 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1441874,nssv1441885,nssv1441896,nssv1441907,nssv1441918,nssv1441929,nssv1441940,nssv1441951,nssv1441974,nssv1441963,nssv1441985,nssv1441996 M 95 1 11 CCDC27,LRRC47,SMIM1,TP73,TP73-AS1 nsv4573358 1 3577482 3577483 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030318 M 10847 1 0 TP73 nsv3193616 1 3581615 3592564 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14284448,nssv14284450,nssv14284444,nssv14284447,nssv14284446,nssv14284449,nssv14284451,nssv14284443,nssv14284445 M 9 0 9 TP73 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4736018 1 3581720 3582243 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16261319 M 25 0 1 TP73 nsv5876101 1 3581723 3582246 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387335 M 914 0 1 TP73 nsv4039584 1 3581723 3582247 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852423 M 10847 0 1 TP73 nsv5414037 1 3581723 3582247 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903002 M 3202 0 1 TP73 nsv5983873 1 3581723 3582247 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518347 M 405 0 1 TP73 nsv4390828 1 3581724 3582247 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15707226 M 174 0 1 TP73 nsv6315757 1 3582517 3584131 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202450 M 19652 1 0 TP73 nsv4040947 1 3582517 3584163 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963685 M 10847 1 0 TP73 esv2758916 1 3585041 3655536 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756833 M 270 1 0 TP73,TP73-AS1 NA10855 dgv8e212 1 3585911 3589696 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577710,esv3577709 M 873 0 5 TP73 400534ME,401030GI,401348RB,401898DS,402061PI nsv5879277 1 3591021 3591254 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384908 M 914 0 1 TP73 nsv4035972 1 3591021 3591257 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852430 M 10847 0 1 TP73 nsv5570132 1 3591553 3591744 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065724 M 35 0 1 TP73 HG00731 nsv3936795 1 3591553 3591745 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15178794 M 1 0 1 TP73 HG002 nsv4449086 1 3591553 3591745 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15762408 M 1 0 1 TP73 nsv5880546 1 3591553 3591840 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375303 M 914 0 1 TP73 nsv6138236 1 3591553 3591841 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903003 M 3202 0 1 TP73 nsv3325001 1 3591554 3591721 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480860,nssv14483353,nssv14476891,nssv14483979,nssv14473205,nssv14489920 M 14 0 6 TP73 HG00733,HG01352,HG02106,HG02818,HG04217,NA19434 nsv3282613 1 3591554 3591746 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14459765 M 9 0 1 TP73 HG00733 nsv4749342 1 3591565 3591806 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16296550 M 25 0 1 TP73 nsv5984199 1 3591583 3591770 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536274 M 405 0 1 TP73 nsv1150687 1 3591596 3591844 CNV deletion John_et_al_2014 26484159 Sequencing nssv3996159 M 1 0 1 TP73 KWB1 nsv1075979 1 3591645 3591925 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764110 M 1 0 1 TP73 KWP1 nsv6050009 1 3591690 3591690 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518804 M 405 1 0 TP73 nsv3323882 1 3591889 3591950 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490323 M 14 0 1 TP73 HG02059 nsv5870180 1 3592614 3592847 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382618 M 914 0 1 TP73 nsv5874060 1 3595969 3596024 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374810 M 914 0 1 TP73 esv3671856 1 3596101 3596212 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16493874 M 20 0 0 TP73 nsv5418280 1 3596101 3596543 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903004 M 3202 1 0 TP73 nsv460061 1 3597017 3671791 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536686 M 1557 0 1 CCDC27,TP73,TP73-AS1 HGDP00787 nsv545129 1 3597017 3671791 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172590 M 17421 0 1 CCDC27,TP73,TP73-AS1 HGDP00787 nsv5582392 1 3598418 3598490 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065728 M 35 0 1 TP73 NA24385 nsv5885624 1 3598418 3598490 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17370001 M 914 0 1 TP73 nsv3949590 1 3598418 3598491 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15178810 M 1 0 1 TP73 HG002 nsv4449087 1 3598418 3598491 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15765728 M 1 0 1 TP73 esv3676486 1 3598418 3598492 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498041 M 20 0 1 TP73 nsv3324314 1 3598419 3598491 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483630,nssv14475606 M 14 0 2 TP73 HG00268,HG02106 nsv4730634 1 3598421 3598494 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16292960 M 25 0 1 TP73 nsv1140740 1 3598433 3598510 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992246 M 2 0 1 TP73 KWS1 nsv5984292 1 3598435 3598507 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531720 M 405 0 1 TP73 nsv6319997 1 3598475 3599101 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202451 M 19652 1 0 TP73 nsv4042651 1 3598556 3598965 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963694 M 10847 1 0 TP73 nsv5415618 1 3598556 3598965 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903005 M 3202 1 0 TP73 nsv6318693 1 3604292 3607740 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061168 M 19652 0 1 TP73 nsv3210629 1 3607797 3613670 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259372,nssv14259374,nssv14259371,nssv14259373 M 9 4 0 TP73 HG00513,NA19238,NA19239,NA19240 nsv3186936 1 3609287 3612508 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14409133,nssv14409132 M 9 0 0 TP73 NA19240 dgv27e59 1 3610192 3611590 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3432428,esv3382922 M 185 1 0 TP73 NA19240 nsv5984200 1 3610281 3611544 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17536835 M 405 1 0 TP73 nsv3325003 1 3610302 3610302 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474680 M 14 1 0 TP73 HG04217 nsv2801207 1 3610311 3610311 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676876 M 2 1 0 TP73 nsv3325004 1 3610311 3610311 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480861,nssv14490274,nssv14484468 M 14 3 0 TP73 CHM13,HG02106,HG02818 nsv5984063 1 3610318 3610392 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520769 M 405 0 1 TP73 nsv5612353 1 3610322 3610322 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065732 M 35 1 0 TP73 HG02818 nsv5570889 1 3610322 3610391 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065731 M 35 0 1 TP73 HG03009 esv3676520 1 3610322 3610393 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498072 M 20 0 1 TP73 nsv2801940 1 3610324 3610464 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13681085 M 2 0 1 TP73 nsv3324604 1 3610324 3610464 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487379,nssv14481322 M 14 0 2 TP73 CHM1,HG00268 nsv3065246 1 3610338 3610508 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14034321 M 2 0 1 TP73 CHM1 nsv5621993 1 3610344 3610344 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065733 M 35 1 0 TP73 HG00513 esv1394802 1 3610346 3610346 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4024850 M 2 1 0 TP73 HuRef nsv5984294 1 3610355 3611055 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534900 M 405 0 1 TP73 nsv3323883 1 3610401 3610506 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485766,nssv14489607 M 14 0 2 TP73 HG02818,NA19434 nsv3541118 1 3610403 3610403 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440889 M 9 1 0 TP73 HG00733 nsv5607414 1 3610404 3610404 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065734 M 35 1 0 TP73 HG00513 nsv2801850 1 3610405 3610405 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694116 M 2 1 0 TP73 nsv3323884 1 3610405 3610405 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491497,nssv14482101,nssv14488042,nssv14490601,nssv14479276 M 14 5 0 TP73 CHM13,HG02106,HG02818,HG04217,NA19240 nsv2801208 1 3610487 3610487 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684175 M 2 1 0 TP73 nsv3324605 1 3610487 3610487 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480500,nssv14483638,nssv14478112 M 14 3 0 TP73 CHM13,HG02106,HG04217 nsv3949045 1 3610510 3610510 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15188747 M 1 1 0 TP73 HG002 nsv4444371 1 3610510 3610510 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15760101 M 1 1 0 TP73 nsv5605355 1 3610510 3610510 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065025 M 35 1 0 TP73 HG00731 nsv3325005 1 3610511 3610511 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472872,nssv14481344 M 14 2 0 TP73 HG02106,NA19240 nsv3536014 1 3610518 3610518 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440890 M 9 1 0 TP73 HG00733 nsv3186314 1 3610522 3610592 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413077 M 9 0 0 TP73 HG00514 nsv6056425 1 3610524 3610524 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536581 M 405 1 0 TP73 nsv3324606 1 3610551 3610551 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483653,nssv14473124 M 14 2 0 TP73 HG01352,HG02059 nsv5612871 1 3610567 3610567 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065026 M 35 1 0 TP73 NA19238 nsv5984201 1 3610587 3610753 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523556 M 405 0 1 TP73 nsv3324315 1 3610591 3610591 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479472,nssv14476092 M 14 2 0 TP73 HG02106,NA19240 esv3378361 1 3610592 3611590 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692311 M 185 1 0 TP73 NA19238 nsv3325006 1 3610655 3610655 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484663 M 14 1 0 TP73 NA12878 nsv3324316 1 3610657 3610657 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488056 M 14 1 0 TP73 NA19240 nsv5616409 1 3610660 3610660 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065027 M 35 1 0 TP73 HG00513 esv1032022 1 3610682 3610682 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3640841 M 2 1 0 TP73 HuRef nsv3324317 1 3610719 3610719 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482355,nssv14491595,nssv14488064 M 14 3 0 TP73 HG02106,HG02818,HG04217 nsv5983874 1 3610730 3610908 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531762 M 405 0 1 TP73 nsv5611075 1 3610732 3610732 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065028 M 35 1 0 TP73 NA12329 nsv6045747 1 3610785 3610785 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518363 M 405 1 0 TP73 nsv3323885 1 3610792 3610792 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485393 M 14 1 0 TP73 HG02106 nsv3535141 1 3610804 3610804 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440891 M 9 1 0 TP73 HG00733 esv1115862 1 3610827 3610827 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4358577 M 2 1 0 TP73 HuRef nsv3324318 1 3610840 3610840 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475979 M 14 1 0 TP73 HG02818 nsv2802110 1 3610875 3610875 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677804 M 2 1 0 TP73 nsv3325007 1 3610875 3610875 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472550,nssv14483328,nssv14484791 M 14 3 0 TP73 CHM13,HG02106,HG04217 esv1634361 1 3610899 3611319 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3887450 M 2 0 1 TP73 HuRef nsv3324607 1 3610981 3610981 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489001 M 14 1 0 TP73 HG04217 nsv6043185 1 3611026 3611026 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517789 M 405 1 0 TP73 nsv3064122 1 3611035 3611035 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14036495 M 2 1 0 TP73 NA12878 nsv5622311 1 3611045 3611045 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065029 M 35 1 0 TP73 HG03486 nsv3325008 1 3611049 3611049 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488716,nssv14490532 M 14 2 0 TP73 HG02106,NA19434 nsv3323886 1 3611074 3611074 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479946,nssv14478380,nssv14483271,nssv14479624,nssv14486716,nssv14484905,nssv14475501 M 14 7 0 TP73 CHM13,HG00268,HG00514,HG02106,HG02818,HX1,NA12878 nsv6044226 1 3611095 3611095 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536917 M 405 1 0 TP73 nsv3535524 1 3611131 3611131 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413078 M 9 1 0 TP73 HG00514 nsv2801941 1 3611141 3611141 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691428 M 2 1 0 TP73 nsv3325009 1 3611141 3611141 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472822,nssv14481870,nssv14474044,nssv14475167,nssv14482695,nssv14485913,nssv14475478,nssv14476361,nssv14491125 M 14 9 0 TP73 CHM1,CHM13,HG00268,HG00514,HG02106,HG02818,HG04217,HX1,NA12878 nsv5610782 1 3611201 3611201 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065030 M 35 1 0 TP73 NA19983 nsv2802111 1 3611211 3611211 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680411 M 2 1 0 TP73 nsv3535622 1 3611211 3611211 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440892 M 9 1 0 TP73 HG00733 nsv5614188 1 3611213 3611213 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065031 M 35 1 0 TP73 NA19239 nsv2801851 1 3611225 3611225 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688918 M 2 1 0 TP73 nsv3324319 1 3611225 3611225 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482941,nssv14489419,nssv14488707,nssv14489773,nssv14480239,nssv14489043,nssv14480648,nssv14488525,nssv14484232,nssv14472881,nssv14477828,nssv14477051 M 14 12 0 TP73 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19434 nsv5605636 1 3611236 3611236 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065032 M 35 1 0 TP73 HG00731 nsv3053588 1 3611269 3611269 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032065 M 2 1 0 TP73 NA12878 nsv2801942 1 3611282 3611282 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684701 M 2 1 0 TP73 nsv3323887 1 3611282 3611282 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472975,nssv14475125,nssv14482837,nssv14491208,nssv14486856,nssv14479151,nssv14475237,nssv14489295,nssv14489930 M 14 9 0 TP73 CHM13,HG00268,HG00733,HG02059,HG02106,HG02818,HX1,NA12878,NA19434 nsv3537155 1 3611305 3611305 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413079 M 9 1 0 TP73 HG00514 nsv2801209 1 3611319 3611319 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690035 M 2 1 0 TP73 nsv3323888 1 3611319 3611319 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487681,nssv14490486,nssv14473456,nssv14481312,nssv14482163,nssv14483892,nssv14475653 M 14 7 0 TP73 CHM1,HG00268,HG00514,HG02106,HG02818,HX1,NA12878 nsv2801210 1 3611324 3611324 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683012 M 2 1 0 TP73 nsv3064123 1 3611324 3611324 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033367 M 2 1 0 TP73 NA12878 nsv3324609 1 3611324 3611324 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475190,nssv14476795,nssv14480020,nssv14479174,nssv14479549,nssv14491276,nssv14476906 M 14 7 0 TP73 CHM13,HG00733,HG02059,HG02106,HG04217,HX1,NA19240 nsv3535300 1 3611341 3611341 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413080 M 9 1 0 TP73 HG00514 esv3676546 1 3611389 3611495 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498096 M 20 0 1 TP73 nsv5612092 1 3611421 3611421 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065033 M 35 1 0 TP73 HG00513 nsv3536564 1 3611527 3611527 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413081 M 9 1 0 TP73 HG00514 nsv5623911 1 3611667 3611667 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065034 M 35 1 0 TP73 HG03009 nsv6333771 1 3614060 3617891 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061171 M 19652 0 1 TP73 nsv3195812 1 3615915 3651764 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14290279,nssv14290281,nssv14290274,nssv14290276,nssv14290280,nssv14290275,nssv14290278,nssv14290282,nssv14290277 M 9 0 9 TP73 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5612242 1 3622874 3622874 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065178 M 35 1 0 TP73 HG03065 nsv5621747 1 3622989 3622989 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065179 M 35 1 0 TP73 NA12329 nsv1145949 1 3623006 3623092 CNV insertion John_et_al_2014 26484159 Sequencing nssv3997313 M 1 1 0 TP73 KWB1 nsv6050675 1 3623028 3623028 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537430 M 405 1 0 TP73 nsv5614736 1 3623034 3623034 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065180 M 35 1 0 TP73 HG03486 nsv5583830 1 3632085 3632374 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065187 M 35 0 1 TP73 HG02011 nsv5887163 1 3632085 3632374 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386957 M 914 0 1 TP73 nsv6328078 1 3632085 3632375 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061177 M 19652 0 1 TP73 nsv4044508 1 3632087 3632375 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852439 M 10847 0 1 TP73 nsv5419882 1 3632087 3632375 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903006 M 3202 0 1 TP73 nsv6053867 1 3632590 3632590 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529621 M 405 1 0 TP73 nsv5886192 1 3639254 3639311 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17370487 M 914 0 1 TP73 dgv21n106 1 3641800 3643000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1136061,nsv1142743 M 2 0 2 TP73 KWS1,KWS2 nsv1075045 1 3642199 3643000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772995 M 1 0 1 TP73 KWP1 nsv4047505 1 3643276 3643342 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963727 M 10847 1 0 TP73 nsv4039385 1 3645782 3708715 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962039 M 10847 1 0 CCDC27,LRRC47,SMIM1,TP73,TP73-AS1 nsv6317470 1 3645782 3708715 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202455 M 19652 1 0 CCDC27,LRRC47,SMIM1,TP73,TP73-AS1 dgv13n100 1 3647012 3707880 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002837,nsv1004361 M 11257 2 0 CCDC27,LRRC47,SMIM1,TP73,TP73-AS1 nsv4534448 1 3648968 3648969 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024557 M 10847 1 0 TP73 nsv4537079 1 3649018 3649019 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024566 M 10847 1 0 TP73 nsv4518186 1 3649018 3649085 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962048 M 10847 1 0 TP73 nsv6138753 1 3649018 3649085 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903181 M 3202 1 0 TP73 nsv2801853 1 3649019 3649019 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691460 M 2 1 0 TP73 nsv3325019 1 3649019 3649019 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472839 M 14 1 0 TP73 CHM13 esv994567 1 3652123 3655370 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565096 M 3 0 1 TP73,TP73-AS1 HuRef nsv4461137 1 3654036 3654037 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024575 M 10847 1 0 TP73-AS1 nsv6052794 1 3654047 3654047 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519745 M 405 1 0 TP73-AS1 nsv5693957 1 3654051 3654051 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17183228 M 3202 1 0 TP73-AS1 nsv6244403 1 3654051 3654051 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856867 M 1021 1 0 TP73-AS1 nsv5396347 1 3654051 3654102 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903213 M 3202 1 0 TP73-AS1 nsv6057751 1 3655837 3655837 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525459 M 405 1 0 TP73-AS1 nsv5983880 1 3655842 3656274 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519226 M 405 0 1 TP73-AS1 nsv5984304 1 3655868 3655938 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530795 M 405 0 1 TP73-AS1 nsv6329937 1 3655939 3656322 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061194 M 19652 0 1 TP73-AS1 nsv6058846 1 3655950 3655950 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522912 M 405 1 0 TP73-AS1 esv3675713 1 3656019 3656121 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16497345 M 20 0 0 TP73-AS1 nsv5984305 1 3656019 3656470 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537221 M 405 0 1 TP73-AS1 nsv5583765 1 3656048 3656119 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065196 M 35 0 1 TP73-AS1 HG00731 nsv3936196 1 3656048 3656120 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15178853 M 1 0 1 TP73-AS1 HG002 nsv4448875 1 3656048 3656120 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15766639 M 1 0 1 TP73-AS1 nsv3323894 1 3656049 3656120 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483577 M 14 0 1 TP73-AS1 HG00733 nsv3282568 1 3656050 3656122 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14462923 M 9 0 1 TP73-AS1 HG00733 nsv5984211 1 3656058 3656130 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537414 M 405 0 1 TP73-AS1 nsv6040627 1 3656089 3656089 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519141 M 405 1 0 TP73-AS1 nsv5984075 1 3656102 3656282 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522136 M 405 0 1 TP73-AS1 nsv5983881 1 3656196 3656334 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522864 M 405 0 1 TP73-AS1 nsv6327114 1 3656252 3656822 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202456 M 19652 1 0 TP73-AS1 nsv4517980 1 3656296 3656675 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962058 M 10847 1 0 TP73-AS1 nsv830425 1 3657453 3758389 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442007 M 95 1 0 CCDC27,CEP104,LRRC47,SMIM1,TP73-AS1 nsv478669 1 3658331 3658331 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012836 M 9 1 0 TP73-AS1 NA18507 nsv5416752 1 3661689 3668924 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903224 M 3202 0 1 TP73-AS1 esv2677777 1 3666629 3668433 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5908521 M 1151 0 1 "" NA19390 nsv5984212 1 3668876 3669457 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529367 M 405 0 1 CCDC27 nsv6333855 1 3670464 3671706 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061199 M 19652 0 1 CCDC27 esv3585047 1 3670490 3671676 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841987,essv9841990,essv9841992,essv9841986,essv9841991,essv9841988,essv9841989,essv9841985 M 2504 0 8 CCDC27 HG02429,HG02479,HG02496,HG03370,NA18501,NA19307,NA19324,NA19397 nsv5425763 1 3670532 3671607 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903235 M 3202 0 1 CCDC27 nsv5574608 1 3670537 3671606 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065205 M 35 0 1 CCDC27 HG03371 esv2659590 1 3670537 3671607 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6358993,essv5770360,essv6424233,essv5470080,essv6060763,essv6182763,essv5786877 M 1151 0 7 CCDC27 NA18501,NA18853,NA18910,NA19373,NA19381,NA19397,NA19473 nsv5873194 1 3670539 3671613 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384471 M 914 0 1 CCDC27 nsv5830003 1 3670586 3671612 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458979 M 914 0 0 CCDC27 esv3585048 1 3672777 3685462 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841994,essv9841993,essv9841995 M 2504 3 0 CCDC27 NA19355,NA19434,NA20872 esv3687373 1 3674532 3674532 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16471712 M 20 1 0 CCDC27 nsv6321140 1 3678565 3683852 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061202 M 19652 0 1 CCDC27 nsv5984078 1 3679276 3679499 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527178 M 405 0 1 CCDC27 nsv6317967 1 3682500 3683472 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202459 M 19652 1 0 CCDC27 nsv6323084 1 3685472 3689088 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061207 M 19652 0 1 CCDC27 nsv6325239 1 3686606 3691252 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061209 M 19652 0 1 CCDC27,SMIM1 nsv4517316 1 3689085 3689137 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852465 M 10847 0 1 "" nsv6056691 1 3689091 3689091 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536270 M 405 1 0 "" nsv4517298 1 3689137 3689193 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852472 M 10847 0 1 "" esv3585049 1 3698222 3711516 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841997,essv9841996,essv9841998 M 2504 0 3 LRRC47 HG00610,HG00625,HG00626 esv3585050 1 3698222 3711516 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9841999 M 2504 1 0 LRRC47 NA20872 nsv5955916 1 3704112 3704112 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17374992 M 914 1 0 LRRC47 nsv4461174 1 3704112 3704113 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023453 M 10847 1 0 LRRC47 nsv5688913 1 3704124 3704124 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17185279,nssv17203576 M 3202 2 0 LRRC47 nsv5398382 1 3704124 3704175 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903257 M 3202 1 0 LRRC47 nsv4048273 1 3707342 3707402 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852480 M 10847 0 1 LRRC47 nsv5879473 1 3708255 3708552 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372195 M 914 0 1 LRRC47 nsv6324158 1 3713508 3722460 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061219 M 19652 0 1 "" nsv4051534 1 3713510 3722460 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853060 M 10847 0 1 "" nsv3561660 1 3714245 3714245 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14282662,nssv14282663 M 9 2 0 "" HG00732,HG00733 nsv3951138 1 3714245 3714245 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15188789 M 1 1 0 "" HG002 nsv4444372 1 3714245 3714245 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15756661 M 1 1 0 "" nsv5611236 1 3714245 3714245 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065214,nssv17065215 M 35 2 0 "" HG00732,NA24385 nsv4537143 1 3714245 3714246 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023464 M 10847 1 0 "" nsv3324328 1 3714246 3714246 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475278 M 14 1 0 "" HG00268 nsv3324619 1 3714253 3714253 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482571 M 14 1 0 "" HG00733 nsv3539870 1 3714266 3714266 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440893 M 9 1 0 "" HG00733 nsv6045068 1 3714275 3714275 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523515 M 405 1 0 "" esv1678500 1 3714289 3714289 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4118454 M 2 1 0 "" HuRef nsv5543288 1 3714289 3714296 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903268 M 3202 1 0 "" nsv6549338 1 3714393 3715270 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252407 M 19652 0 0 "" esv1763700 1 3716941 3717091 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4015442 M 2 0 1 "" HuRef nsv4448876 1 3716941 3717091 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15765274 M 1 0 1 "" dgv6e199 1 3716953 3717153 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2676394,esv2663574 M 1151 0 81 "" HG00108,HG00111,HG00125,HG00136,HG00140,HG00142,HG00151,HG00154,HG00232,HG00253,HG00261,HG00268,HG00275,HG00280,HG00284,HG00285,HG00309,HG00310,HG00318,HG00320,HG00324,HG00326,HG00331,HG00334,HG00337,HG00346,HG00436,HG00501,HG00524,HG00589,HG00590,HG00657,HG00662,HG00692,HG00740,HG01048,HG01051,HG01067,HG01073,HG01108,HG01125,HG01173,HG01187,HG01350,HG01353,HG01365,HG01374,HG01437,HG01440,NA07347,NA11918,NA12006,NA12830,NA18511,NA18517,NA18595,NA18623,NA18861,NA18953,NA19114,NA19138,NA19147,NA19172,NA19359,NA19371,NA19374,NA19375,NA19379,NA19381,NA19385,NA19390,NA19391,NA19394,NA19397,NA19439,NA20294,NA20332,NA20502,NA20507,NA20527,NA20528 dgv61n152 1 3716993 3717152 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3196411,nsv3282384 M 9 0 4 "" HG00732,HG00733,NA19238,NA19240 nsv5581974 1 3717002 3717151 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065218 M 35 0 1 "" HG00732 nsv5884123 1 3717002 3717151 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383195 M 914 0 1 "" nsv3930852 1 3717002 3717152 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15178874 M 1 0 1 "" HG002 esv3676656 1 3717002 3717153 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498195 M 20 0 1 "" nsv3323900 1 3717003 3717152 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476169,nssv14490250,nssv14476433,nssv14480553,nssv14480709 M 14 0 5 "" HG00268,HG00733,HG02818,NA19240,NA19434 nsv5984081 1 3717009 3717158 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521865 M 405 0 1 "" nsv1112216 1 3717013 3717112 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965913 M 2 0 1 "" KWS2 nsv5984082 1 3717056 3717107 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537506 M 405 0 1 "" nsv4034940 1 3718155 3723149 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853070 M 10847 0 1 "" nsv5830006 1 3718378 3723377 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451685 M 914 0 0 "" nsv5874541 1 3718516 3723400 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380728 M 914 0 1 "" nsv4041723 1 3729562 3729723 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853079 M 10847 0 1 CEP104 esv3585052 1 3734485 3844788 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9842002,essv9842001 M 2504 2 0 C1orf174,CEP104,DFFB,LINC01134 HG02481,NA20872 nsv4767177 1 3737068 3737068 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16268981 M 25 1 0 CEP104 nsv6049451 1 3737074 3737074 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525425 M 405 1 0 CEP104 nsv5422583 1 3737580 4349207 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903269 M 3202 1 0 C1orf174,CEP104,DFFB,LINC01134,LOC728716 nsv5622772 1 3741453 3741453 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065223 M 35 1 0 CEP104 NA19238 nsv3323903 1 3741528 3741595 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490418 M 14 0 1 CEP104 NA19434 nsv3282770 1 3741540 3741607 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14410422 M 9 0 1 CEP104 NA19240 nsv5571227 1 3741576 3741642 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065224 M 35 0 1 CEP104 NA19238 nsv3323904 1 3741621 3741621 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484145 M 14 1 0 CEP104 NA19434 nsv3540840 1 3741631 3741631 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376942 M 9 1 0 CEP104 NA19240 nsv509590 1 3743021 3819056 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623769 M 4 1 0 C1orf174,CEP104,DFFB,LINC01134 NA18994 nsv545130 1 3743132 4343948 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172591 M 17421 1 0 C1orf174,CEP104,DFFB,LINC01134,LOC728716 1780862339_A esv1948239 1 3748871 3749215 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4952306 M 1 0 1 CEP104 NA18507 nsv1141741 1 3748902 3748985 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3993247 M 2 1 0 CEP104 KWS2 nsv4748086 1 3748933 3749005 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16271867 M 25 0 1 CEP104 nsv3324329 1 3748937 3749008 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488584 M 14 0 1 CEP104 NA19434 nsv5984084 1 3748942 3749012 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520712 M 405 0 1 CEP104 nsv3945996 1 3748981 3748981 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15188799 M 1 1 0 CEP104 HG002 nsv3538905 1 3748984 3748984 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440894,nssv14382709 M 9 2 0 CEP104 HG00733,NA19240 nsv4444373 1 3748984 3748984 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759141 M 1 1 0 CEP104 nsv5619566 1 3748984 3748984 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065037 M 35 1 0 CEP104 HG00732 nsv3324621 1 3748985 3748985 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477921,nssv14486819,nssv14482305 M 14 3 0 CEP104 HG00733,HG02818,HG04217 esv1074506 1 3748997 3748997 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3942170 M 2 1 0 CEP104 HuRef nsv1140742 1 3749023 3749098 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992248 M 2 0 1 CEP104 KWS1 nsv6046314 1 3749024 3749024 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536816 M 405 1 0 CEP104 nsv5573356 1 3749032 3749103 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065038 M 35 0 1 CEP104 HG00731 nsv5984313 1 3749032 3749103 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523409 M 405 0 1 CEP104 dgv62n152 1 3749042 3749115 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3192729,nsv3208366 M 9 0 3 CEP104 HG00731,HG00732,HG00733 nsv3063224 1 3749046 3749118 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14037597 M 2 0 1 CEP104 NA12878 nsv5572382 1 3750816 3750868 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065039 M 35 0 1 CEP104 HG00731 nsv3324622 1 3750817 3750869 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473022,nssv14480606,nssv14472662,nssv14473535,nssv14476582,nssv14481847,nssv14475084 M 14 0 7 CEP104 HG00733,HG02059,HG04217,HX1,NA12878,NA19240,NA19434 dgv63n152 1 3750817 3750871 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3185130,nsv3182871 M 9 0 0 CEP104 HG00514,HG00733,NA19240 nsv5984314 1 3750854 3750905 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518231 M 405 0 1 CEP104 nsv4748680 1 3750862 3750916 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16275608 M 25 0 1 CEP104 nsv3324330 1 3750951 3751004 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480890 M 14 0 1 CEP104 HG00733 nsv4390829 1 3752469 3752613 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15703000 M 174 0 1 CEP104 nsv5678011 1 3753056 3753056 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17185912 M 3202 1 0 CEP104 nsv4047306 1 3757036 3757890 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853089 M 10847 0 1 CEP104 nsv5983886 1 3758936 3803842 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528263 M 405 0 1 CEP104,DFFB nsv159844 1 3759905 3761262 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178422 M 24 CEP104 nsv6546059 1 3760076 3761146 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252410 M 19652 0 0 CEP104 nsv4047424 1 3763180 3763827 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853098 M 10847 0 1 CEP104 nsv5871506 1 3764627 3764984 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387445 M 914 0 1 CEP104 nsv4043410 1 3764627 3764985 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852754 M 10847 0 1 CEP104 nsv5429266 1 3764627 3764985 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903270 M 3202 0 1 CEP104 nsv6331633 1 3764627 3764985 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061250 M 19652 0 1 CEP104 esv3676217 1 3765007 3765070 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16497800 M 20 0 0 CEP104 nsv6316560 1 3769857 3770680 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061253 M 19652 0 1 CEP104 nsv1116483 1 3770895 3770980 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3978664 M 2 0 0 CEP104 KWS2 nsv6318793 1 3771246 3771633 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061254 M 19652 0 1 CEP104 nsv4035658 1 3772166 3772529 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852764 M 10847 0 1 CEP104 nsv4045622 1 3775606 3775708 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852770 M 10847 0 1 DFFB nsv4461143 1 3781958 3781959 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023472 M 10847 1 0 DFFB nsv6331854 1 3782842 3783499 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061263 M 19652 0 1 DFFB nsv479517 1 3783035 3783035 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012022 M 9 0 0 DFFB nsv6333753 1 3783636 3787962 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061264 M 19652 0 1 DFFB nsv4444374 1 3785147 3785147 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762138 M 1 1 0 DFFB nsv3536291 1 3785222 3785222 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391688 M 9 1 0 DFFB NA19240 nsv3955005 1 3785228 3785228 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15188817 M 1 1 0 DFFB HG002 nsv5621220 1 3785228 3785228 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065044 M 35 1 0 DFFB HG00731 nsv5963974 1 3785228 3785228 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17379176 M 914 1 0 DFFB nsv6058339 1 3785228 3785228 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521885 M 405 1 0 DFFB nsv3060813 1 3785230 3785230 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020924 M 2 1 0 DFFB CHM1 nsv2801214 1 3785234 3785234 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699819 M 2 1 0 DFFB nsv3324332 1 3785234 3785234 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486172,nssv14482129,nssv14477782,nssv14472045,nssv14486984,nssv14484909,nssv14491308,nssv14476653,nssv14487004,nssv14476521,nssv14483825,nssv14485629,nssv14477444,nssv14481152 M 14 14 0 DFFB CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3053589 1 3785235 3785235 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017311 M 2 1 0 DFFB NA12878 esv1467252 1 3785236 3785236 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4229403 M 2 1 0 DFFB HuRef nsv3324623 1 3785283 3785283 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474419 M 14 1 0 DFFB NA19434 nsv480404 1 3785495 3785495 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011405 M 9 0 0 DFFB nsv473755 1 3787116 3787116 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017508 M 9 1 0 DFFB NA12156 nsv479682 1 3787207 3787207 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012592 M 9 0 0 DFFB nsv4049570 1 3790119 3790508 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852781 M 10847 0 1 DFFB nsv5432827 1 3790119 3790508 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903272 M 3202 0 1 DFFB esv1008825 1 3790827 3790983 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3580646 M 3 0 1 DFFB HuRef nsv5580425 1 3790827 3790983 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065047 M 35 0 1 DFFB HG03486 esv1273516 1 3790827 3790984 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4131794 M 2 0 1 DFFB HuRef esv992605 1 3790827 3791061 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3585949 M 3 0 1 DFFB HuRef esv3676784 1 3790827 3791063 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498309 M 20 0 1 DFFB nsv3325029 1 3790828 3790906 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483073 M 14 0 1 DFFB NA19434 nsv4743477 1 3790828 3790984 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16291308 M 25 0 1 DFFB nsv5984113 1 3790860 3790948 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523536 M 405 0 1 DFFB nsv5582276 1 3790897 3790974 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065048 M 35 0 1 DFFB NA19238 nsv3325030 1 3790898 3790975 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473702 M 14 0 1 DFFB NA19240 nsv3182658 1 3790898 3790976 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14411615 M 9 0 0 DFFB NA19240 nsv3324334 1 3790976 3791053 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481617 M 14 0 1 DFFB NA19434 nsv6059659 1 3791182 3791182 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528696 M 405 1 0 DFFB nsv480762 1 3791205 3791205 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012639 M 9 0 0 DFFB nsv476313 1 3791215 3791215 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014524 M 9 1 0 DFFB NA12878 nsv3324335 1 3791269 3791347 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491171 M 14 0 1 DFFB NA19434 nsv5984086 1 3791373 3791449 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522093 M 405 0 1 DFFB nsv481045 1 3793002 3793002 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011297 M 9 0 0 DFFB nsv4461180 1 3793157 3793158 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023483 M 10847 1 0 DFFB nsv5546141 1 3793231 3793231 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903273 M 3202 1 0 DFFB nsv474298 1 3793685 3793685 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020439 M 9 1 0 DFFB NA18507 nsv480565 1 3794412 3794412 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012547 M 9 0 0 DFFB nsv480530 1 3794649 3794649 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014312 M 9 0 0 DFFB nsv474895 1 3794993 3794993 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014698 M 9 1 0 DFFB NA18956 nsv480658 1 3797056 3797056 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012832 M 9 0 0 DFFB nsv472199 1 3797102 3797102 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016248 M 9 1 0 DFFB NA18555 nsv480877 1 3798619 3798619 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015174 M 9 0 0 DFFB nsv6330294 1 3798967 3800669 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060064 M 19652 0 1 DFFB nsv480517 1 3799719 3799719 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011682 M 9 0 0 DFFB nsv480775 1 3799968 3799968 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015333 M 9 0 0 DFFB nsv5877030 1 3800668 3804413 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17372088 M 914 1 0 DFFB nsv5829716 1 3800701 3804200 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458985 M 914 0 0 DFFB nsv4570178 1 3802039 3802040 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023494 M 10847 1 0 "" nsv3324625 1 3803031 3803031 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478608 M 14 1 0 "" HG04217 nsv480683 1 3803422 3803422 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014297 M 9 0 0 "" nsv6328349 1 3804995 3805525 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060068 M 19652 0 1 "" nsv5431326 1 3804996 3805525 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903274 M 3202 0 1 "" nsv4039515 1 3804996 3805558 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852788 M 10847 0 1 "" nsv474247 1 3805503 3805503 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015360 M 9 1 0 "" NA18507 nsv474199 1 3806517 3806517 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017129 M 9 1 0 C1orf174 NA18507 nsv4036218 1 3806639 3807131 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852798 M 10847 0 1 C1orf174 esv3676845 1 3808423 3809068 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498364 M 20 0 1 C1orf174 nsv4748301 1 3808428 3808842 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16292059 M 25 0 1 C1orf174 esv26417 1 3808437 3809202 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv16927 M 40 2 0 C1orf174 NA19099,NA19225 nsv5565336 1 3808453 3808866 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065489 M 35 0 1 C1orf174 HG00512 nsv5984115 1 3808496 3808895 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523312 M 405 0 1 C1orf174 nsv5567452 1 3808515 3808606 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065490 M 35 0 1 C1orf174 HG00732 nsv3325032 1 3808516 3808607 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477851,nssv14478070,nssv14488614,nssv14482118 M 14 0 4 C1orf174 HG00733,HG02059,NA19240,NA19434 nsv3325031 1 3808516 3808745 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485894,nssv14488600,nssv14474720,nssv14486680,nssv14489635 M 14 0 5 C1orf174 HG00268,HG02818,HG04217,NA12878,NA19434 nsv3281257 1 3808522 3808614 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14411291,nssv14459545 M 9 0 2 C1orf174 HG00733,NA19240 nsv3281356 1 3808522 3808752 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14410500 M 9 0 1 C1orf174 NA19240 nsv3946687 1 3808728 3808958 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15178929 M 1 0 1 C1orf174 HG002 nsv5984317 1 3808911 3809014 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537481 M 405 0 1 C1orf174 nsv5564787 1 3808914 3809142 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065491 M 35 0 1 C1orf174 NA20509 esv1352346 1 3808984 3809076 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4067715 M 2 0 1 C1orf174 HuRef nsv5984318 1 3808995 3809126 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519147 M 405 0 1 C1orf174 nsv3324336 1 3809006 3809097 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480881,nssv14491496 M 14 0 2 C1orf174 HG04217,NA19434 nsv3049892 1 3809036 3809232 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14031510 M 2 0 1 C1orf174 NA12878 nsv5984116 1 3809101 3809240 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529009 M 405 0 1 C1orf174 nsv5830192 1 3817281 3826205 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450335 M 914 0 0 LINC01134 nsv5868669 1 3817322 3833066 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17385259 M 914 1 0 LINC01134 nsv6333572 1 3817322 3833067 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203070 M 19652 1 0 LINC01134 nsv5427829 1 3817322 3833069 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903277 M 3202 1 0 LINC01134 nsv6318128 1 3819803 3825100 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060085 M 19652 0 1 LINC01134 nsv5605557 1 3823032 3823032 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065494 M 35 1 0 LINC01134 HG02587 nsv6316869 1 3835299 3836233 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060095 M 19652 0 1 "" dgv22n106 1 3836500 3837300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1136062,nsv1142744 M 2 0 2 "" KWS1,KWS2 nsv1074534 1 3836599 3837300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763412 M 1 0 1 "" KWP1 nsv6051109 1 3836752 3836752 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521689 M 405 1 0 "" nsv6055426 1 3836803 3836803 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526173 M 405 1 0 "" nsv5623761 1 3836826 3836826 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065496 M 35 1 0 "" HG00732 nsv3530547 1 3836837 3836837 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440897 M 9 1 0 "" HG00733 nsv3539278 1 3836892 3836892 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377002 M 9 1 0 "" NA19240 nsv3325033 1 3836987 3836987 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474901 M 14 1 0 "" HG01352 nsv3323907 1 3837061 3837061 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487396 M 14 1 0 "" HG01352 nsv4754581 1 3837131 3837131 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16275231 M 25 1 0 "" nsv6043069 1 3837135 3837135 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535405 M 405 1 0 "" nsv6317776 1 3840777 3841341 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060101 M 19652 0 1 "" nsv5872870 1 3841930 3841979 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376009 M 914 0 1 "" esv3687550 1 3843705 3843705 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16471872 M 20 1 0 "" nsv4045355 1 3843877 3844000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852813 M 10847 0 1 "" nsv5883033 1 3843885 3844033 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376716 M 914 0 1 "" esv3585054 1 3995323 4001974 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844463,essv9844464,essv9844462 M 2504 3 0 LOC728716 HG01191,HG02481,NA20872 nsv5417975 1 3995590 3995659 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903321 M 3202 0 1 "" nsv3200518 1 3996547 3996733 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14284794,nssv14284795,nssv14284792,nssv14284793 M 9 0 4 "" HG00514,HG00731,NA19238,NA19240 nsv4461187 1 3998182 3998183 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023505 M 10847 1 0 "" nsv5680305 1 3998192 3998192 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17187129,nssv17203577 M 3202 2 0 "" nsv5398006 1 3998192 3998243 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903323 M 3202 1 0 "" dgv3e214 1 4000527 4147217 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585056,esv3585055 M 2504 2 0 LOC728716 HG02481,NA20872 dgv12n209 1 4011137 4013036 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5829717,nsv5830009 M 914 0 0 LOC728716 nsv5881696 1 4011160 4012573 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387438 M 914 0 1 LOC728716 nsv460172 1 4014091 4080780 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536774 M 1557 0 1 "" HGDP00586 nsv545131 1 4014091 4080780 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172592 M 17421 0 1 "" HGDP00586 nsv4049259 1 4022229 4022722 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853113 M 10847 0 1 "" nsv479376 1 4025289 4025289 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017501 M 9 0 0 "" nsv4517385 1 4027958 4028354 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853121 M 10847 0 1 "" nsv481575 1 4028346 4028346 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018750 M 9 0 0 "" nsv6315592 1 4031360 4032202 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060122 M 19652 0 1 "" nsv5878896 1 4033489 4033709 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373649 M 914 0 1 "" nsv3206140 1 4033489 4033710 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14285788 M 9 0 1 "" NA19238 nsv4753606 1 4033562 4033562 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16287666 M 25 1 0 "" nsv3950918 1 4033596 4033596 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189770 M 1 1 0 "" HG002 esv3676962 1 4033596 4033685 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498470 M 20 0 1 "" nsv6043226 1 4033616 4033616 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528679 M 405 1 0 "" esv3687696 1 4033710 4033710 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472003 M 20 1 0 "" nsv3540997 1 4033710 4033710 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387925 M 9 1 0 "" NA19240 nsv5609994 1 4033710 4033710 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065320 M 35 1 0 "" NA19238 nsv3324632 1 4033711 4033711 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474536,nssv14482193,nssv14472338 M 14 3 0 "" HG02818,NA19240,NA19434 nsv4033471 1 4034926 4034992 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853130 M 10847 0 1 "" nsv521 1 4043864 4048033 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1327 M 9 1 0 "" NA19240 nsv4461898 1 4044557 4044558 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023514 M 10847 1 0 "" esv26736 1 4044756 4045264 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11152 M 40 0 1 "" NA18916 nsv5425669 1 4044818 4045588 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903325 M 3202 0 1 "" nsv5885963 1 4047795 4047877 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375886 M 914 0 1 "" nsv6335295 1 4055598 4055789 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060128 M 19652 0 1 "" nsv4536694 1 4057318 4057319 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023526 M 10847 1 0 "" nsv4537201 1 4057337 4057338 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023536 M 10847 1 0 "" nsv5552496 1 4057337 4057347 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903335 M 3202 1 0 "" nsv5949833 1 4057342 4057342 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17384125 M 914 1 0 "" nsv3534494 1 4058597 4058597 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382774 M 9 1 0 "" NA19240 nsv3213495 1 4058597 4077815 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259917,nssv14259918,nssv14259916 M 9 3 0 "" NA19238,NA19239,NA19240 nsv5984324 1 4059596 4059798 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17525327 M 405 1 0 "" nsv5879125 1 4059617 4059911 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17370632 M 914 1 0 "" nsv5416136 1 4059617 4060007 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903346 M 3202 1 0 "" nsv6147321 1 4059659 4059659 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903357 M 3202 0 0 "" nsv1140108 1 4059742 4059804 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3978820 M 2 1 0 "" KWS2 nsv3323913 1 4059749 4059749 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491195,nssv14490423,nssv14486595 M 14 3 0 "" HG00268,HG01352,HX1 nsv4533037 1 4059777 4059778 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023562 M 10847 1 0 "" nsv5542112 1 4059777 4059854 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903378 M 3202 1 0 "" nsv5606053 1 4059778 4059778 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065226 M 35 1 0 "" HG00731 nsv3323914 1 4059779 4059779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489016,nssv14489490,nssv14483751 M 14 3 0 "" HG00268,HG01352,HX1 nsv6047450 1 4059788 4059788 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521217 M 405 1 0 "" nsv2801218 1 4059796 4059854 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13681633 M 2 0 1 "" nsv3324635 1 4059796 4059854 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479929 M 14 0 1 "" CHM1 nsv3181052 1 4059796 4059855 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14456552 M 9 0 0 "" HG00733 esv3332307 1 4059814 4059997 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652088 M 185 1 0 "" NA19240 nsv5575007 1 4059822 4059939 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065227 M 35 0 1 "" HG00732 nsv5984325 1 4059822 4059940 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517693 M 405 0 1 "" esv3677027 1 4059822 4059941 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498528 M 20 0 1 "" nsv2801948 1 4059823 4059940 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13694330 M 2 0 1 "" nsv3325039 1 4059823 4059940 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475613,nssv14489639,nssv14488592,nssv14481607,nssv14481528,nssv14491618 M 14 0 6 "" CHM13,HG00514,HG02059,HG02106,HX1,NA19434 nsv3170990 1 4059823 4059941 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14436238 M 9 0 0 "" HG00514 esv1003004 1 4059827 4059944 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3578431 M 3 0 1 "" HuRef nsv4748125 1 4059829 4059948 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260427 M 25 0 1 "" nsv6138198 1 4059835 4059940 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903389 M 3202 0 1 "" nsv5883099 1 4059835 4059952 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373943 M 914 0 1 "" esv1647727 1 4059835 4059953 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3880229 M 2 0 1 "" HuRef nsv3934267 1 4059835 4059953 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15179022 M 1 0 1 "" HG002 nsv159163 1 4059836 4059953 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177741 M 24 "" nsv5606226 1 4059854 4059854 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065228 M 35 1 0 "" NA19238 nsv1149637 1 4059881 4059980 CNV deletion John_et_al_2014 26484159 Sequencing nssv4000933 M 1 0 1 "" KWB1 nsv1112217 1 4059899 4060023 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965914 M 2 0 1 "" KWS2 nsv3540072 1 4059955 4059955 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384253 M 9 1 0 "" NA19240 nsv5610538 1 4059955 4059955 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065229 M 35 1 0 "" HG00731 nsv3171537 1 4059955 4060014 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440899 M 9 0 0 "" HG00733 nsv2801861 1 4059956 4059956 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680156 M 2 1 0 "" nsv3325040 1 4059956 4059956 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477369 M 14 1 0 "" CHM1 nsv3931683 1 4059960 4059960 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189825 M 1 1 0 "" HG002 nsv3325041 1 4059967 4059967 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478422,nssv14481311,nssv14487244 M 14 3 0 "" HG00268,HG01352,NA19240 nsv3325042 1 4059995 4059995 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484369,nssv14475829,nssv14491695 M 14 3 0 "" HG00268,HG01352,NA19240 esv3687831 1 4059999 4059999 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472125 M 20 1 0 "" nsv4048528 1 4066579 4081465 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962097 M 10847 1 0 "" nsv6316918 1 4066579 4081465 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203092 M 19652 1 0 "" esv3677099 1 4068661 4068722 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498593 M 20 0 1 "" nsv4050161 1 4071671 4072368 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853153 M 10847 0 1 "" nsv5425116 1 4071671 4072368 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903405 M 3202 0 1 "" nsv4461388 1 4071986 4071987 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16021362 M 10847 1 0 "" nsv5675749 1 4071995 4071995 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17187029 M 3202 1 0 "" nsv6256294 1 4071995 4071995 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857977 M 1021 1 0 "" nsv5410041 1 4071995 4072046 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903407 M 3202 1 0 "" nsv4034628 1 4073557 4082344 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853164 M 10847 0 1 "" esv3585057 1 4075955 4077963 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844469 M 2504 0 1 "" HG02725 nsv4461191 1 4075963 4075964 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022111 M 10847 1 0 "" nsv5431273 1 4075991 4077997 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903408 M 3202 0 1 "" nsv4751358 1 4076960 4076960 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16285268 M 25 1 0 "" nsv3534460 1 4076969 4076969 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376350 M 9 1 0 "" NA19240 nsv3323916 1 4076983 4076983 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485620,nssv14482026 M 14 2 0 "" HG02818,NA12878 nsv3542337 1 4076999 4076999 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413085,nssv14440900 M 9 2 0 "" HG00514,HG00733 nsv3936974 1 4076999 4076999 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189285 M 1 1 0 "" HG002 nsv5610371 1 4076999 4076999 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065238,nssv17065239 M 35 2 0 "" HG00731,HG03125 nsv2802117 1 4077000 4077000 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677754 M 2 1 0 "" nsv3324637 1 4077000 4077000 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479269,nssv14480677,nssv14488576,nssv14483598,nssv14480773,nssv14474905,nssv14489379,nssv14483433,nssv14473816,nssv14489134 M 14 10 0 "" CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19434 nsv3053591 1 4077012 4077012 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025441 M 2 1 0 "" NA12878 nsv5613581 1 4077012 4077012 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065240 M 35 1 0 "" NA24385 nsv2801219 1 4077024 4077024 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683347 M 2 1 0 "" nsv3324342 1 4077024 4077024 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477711,nssv14483728,nssv14477262,nssv14479293,nssv14475931,nssv14491044,nssv14483594,nssv14484276,nssv14489684,nssv14479655,nssv14480212 M 14 11 0 "" CHM1,HG00268,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv6047264 1 4077029 4077029 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537332 M 405 1 0 "" nsv2802118 1 4077046 4077046 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682634 M 2 1 0 "" nsv3323917 1 4077046 4077046 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478106,nssv14491128,nssv14472199,nssv14480352,nssv14472637,nssv14474409,nssv14490871,nssv14490434,nssv14491688,nssv14491230,nssv14475633 M 14 11 0 "" CHM1,HG00268,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv4045317 1 4088517 4088974 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853173 M 10847 0 1 "" nsv5874945 1 4090006 4092394 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17371811 M 914 0 1 "" nsv5623231 1 4091445 4091445 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065243 M 35 1 0 "" NA18534 nsv3191216 1 4098653 4129154 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14254973 M 9 0 1 "" HG00512 nsv4562793 1 4104743 4104744 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022121 M 10847 1 0 "" nsv6052456 1 4107607 4107607 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521841 M 405 1 0 "" nsv6541065 1 4110920 4112080 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250939 M 19652 0 0 "" esv3893656 1 4111187 4128523 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25779899 M 3017 0 1 "" nsv6318308 1 4111535 4113289 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060759 M 19652 0 1 "" nsv4534220 1 4112145 4112146 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022128 M 10847 1 0 "" nsv5622756 1 4112190 4112190 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065249 M 35 1 0 "" HG03486 nsv4533193 1 4112190 4112191 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022138 M 10847 1 0 "" nsv3115358 1 4114973 4128712 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14108318 M 467 0 1 "" sample89 nsv5830199 1 4115245 4136587 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450640 M 914 0 0 "" nsv5874777 1 4115504 4300535 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17389232 M 914 0 1 "" nsv545132 1 4117238 4124657 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708848 M 17421 0 1 "" nsv5829720 1 4117320 4118319 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451764,nssv17460616 M 914 0 0 "" esv3893767 1 4117554 4299727 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25785971 M 3017 0 1 "" nsv460283 1 4117554 4299727 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536884 M 1557 0 1 "" HGDP00817 nsv545133 1 4117554 4299727 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172593 M 17421 0 1 "" HGDP00817 nsv5425475 1 4119072 4119225 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683893 M 3202 0 1 "" nsv6256743 1 4120194 4120194 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17859411 M 1021 1 0 "" nsv520675 1 4120311 4123099 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697551 M 2026 0 1 "" nsv952035 1 4120501 4127700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2999228 M 1 0 1 "" BILGI_BIOE nsv4045598 1 4122531 4122619 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962854 M 10847 1 0 "" nsv5423366 1 4122531 4122619 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903410 M 3202 1 0 "" esv2674556 1 4123545 4127892 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6405492,essv6417603,essv6498795,essv5398297 M 1151 0 4 "" HG01515,HG01516,HG01519,HG01522 esv21720 1 4123843 4127968 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12064 M 40 0 3 "" NA12749,NA12878,NA19108 nsv545134 1 4123849 4127522 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708849 M 17421 0 1 "" nsv4032463 1 4123989 4124046 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853182 M 10847 0 1 "" dgv57n54 1 4124155 4128523 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545135,nsv545136 M 17421 2 0 "" nsv1153626 1 4124199 4127700 CNV duplication John_et_al_2014 26484159 Sequencing nssv4002280 M 1 1 0 "" KWB1 nsv4448877 1 4124298 4125283 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15760412 M 1 0 1 "" nsv1077281 1 4124399 4127600 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768494 M 1 1 0 "" KWP1 nsv1118427 1 4124400 4127700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958933 M 2 1 0 "" KWS1 nsv6138030 1 4124444 4125007 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903411 M 3202 1 0 "" nsv5887213 1 4124490 4124597 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384025 M 914 0 1 "" esv5203 1 4124544 4124998 CNV loss Wang_et_al_2008 18987735 Sequencing essv27644 M 1 0 1 "" YH nsv3195640 1 4124554 4125025 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14291288 M 9 0 1 "" NA19238 nsv5886298 1 4124562 4124811 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381953 M 914 0 1 "" nsv1120185 1 4124612 4126897 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960948 M 2 1 0 "" KWS1 dgv13n209 1 4124632 4126424 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5872937,nsv5876041,nsv5887460 M 914 0 3 "" nsv5429578 1 4124778 4126328 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903413 M 3202 0 1 "" nsv6315758 1 4124892 4126270 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060773 M 19652 0 1 "" nsv4737514 1 4124934 4125996 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16291422 M 25 0 1 "" nsv2801951 1 4124978 4124978 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687462 M 2 1 0 "" nsv3323920 1 4124978 4124978 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475561,nssv14480149,nssv14485725,nssv14483769,nssv14483509,nssv14482019 M 14 6 0 "" CHM13,HG00268,HG00514,HG02059,HG02106,NA12878 nsv5872338 1 4124984 4125386 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387992 M 914 0 1 "" nsv6138795 1 4124984 4125393 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903415 M 3202 0 1 "" nsv4518262 1 4124984 4126406 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853190 M 10847 0 1 "" dgv14n209 1 4124984 4126413 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5872379,nsv5877649 M 914 0 2 "" nsv5953089 1 4124985 4124985 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17370277 M 914 1 0 "" nsv3049218 1 4124986 4125076 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14021549 M 2 0 1 "" NA12878 nsv5582240 1 4124986 4125392 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065255 M 35 0 1 "" HG00731 nsv5984221 1 4124986 4125394 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528635 M 405 0 1 "" nsv5984126 1 4124991 4125057 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528380 M 405 0 1 "" nsv2801952 1 4125006 4125006 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694695 M 2 1 0 "" nsv3324343 1 4125006 4125006 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487766,nssv14476423,nssv14479680,nssv14490310,nssv14484539,nssv14475115 M 14 6 0 "" CHM13,HG00268,HG00514,HG02059,HG02106,NA12878 nsv1144342 1 4125007 4125067 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995089 M 2 0 1 "" KWS1 nsv5984222 1 4125044 4125099 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521790 M 405 0 1 "" nsv5984127 1 4125197 4125581 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534739 M 405 0 1 "" nsv511674 1 4125242 4125939 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626312 M 1 0 1 "" 1 nsv1145310 1 4125276 4126887 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982401 M 2 0 1 "" KWS1 nsv5984128 1 4125332 4125448 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525162 M 405 0 1 "" esv1280652 1 4125335 4125432 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3810874 M 2 0 1 "" HuRef nsv3282387 1 4125368 4125579 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14411711 M 9 0 1 "" NA19240 nsv1125452 1 4125387 4126897 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983626 M 2 1 0 "" KWS2 nsv5868576 1 4125465 4126227 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380705 M 914 0 1 "" nsv5984129 1 4125538 4125605 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520741 M 405 0 1 "" nsv5984223 1 4125556 4125664 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523522 M 405 0 1 "" nsv3324344 1 4125613 4125613 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480789 M 14 1 0 "" HG00268 nsv3539778 1 4125619 4125619 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387540 M 9 1 0 "" NA19240 nsv5886098 1 4125660 4127126 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17378015 M 914 0 1 "" nsv5426332 1 4125687 4126046 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903418 M 3202 1 0 "" dgv28e59 1 4125692 4127790 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3387532,esv3352978 M 185 2 0 "" NA19239,NA19240 nsv3324345 1 4125772 4125872 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484457,nssv14491401,nssv14486364 M 14 0 3 "" HG00514,HG02059,NA12878 esv5764 1 4125783 4127419 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28205 M 1 0 0 "" nsv5882481 1 4125819 4126007 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385731 M 914 0 1 "" nsv3325047 1 4125838 4125965 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487979,nssv14481182,nssv14474225 M 14 0 3 "" CHM13,HG00268,HG02106 nsv2801862 1 4125838 4125980 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13686900 M 2 0 1 "" nsv5568043 1 4125844 4126413 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065256 M 35 0 1 "" HG00731 nsv5984329 1 4125865 4126425 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525313 M 405 0 1 "" dgv7e199 1 4125979 4126949 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2669579,esv2669964 M 1151 0 156 "" HG00111,HG00116,HG00117,HG00119,HG00120,HG00124,HG00145,HG00154,HG00159,HG00190,HG00245,HG00253,HG00258,HG00264,HG00265,HG00280,HG00284,HG00285,HG00306,HG00310,HG00313,HG00325,HG00367,HG00427,HG00436,HG00472,HG00500,HG00501,HG00524,HG00534,HG00536,HG00542,HG00590,HG00683,HG00702,HG00705,HG00707,HG00732,HG01047,HG01055,HG01070,HG01095,HG01168,HG01173,HG01187,HG01198,HG01342,HG01351,HG01353,HG01359,HG01374,HG01440,HG01456,HG01465,HG01494,HG01519,NA06984,NA06989,NA07048,NA11830,NA11831,NA11994,NA12003,NA12154,NA12155,NA12341,NA12342,NA12347,NA12348,NA12400,NA18487,NA18489,NA18533,NA18541,NA18542,NA18559,NA18560,NA18561,NA18565,NA18595,NA18620,NA18625,NA18856,NA18867,NA18874,NA18908,NA18942,NA18950,NA18952,NA18964,NA18977,NA18988,NA18999,NA19004,NA19005,NA19060,NA19065,NA19066,NA19067,NA19068,NA19092,NA19172,NA19189,NA19213,NA19235,NA19331,NA19347,NA19350,NA19355,NA19372,NA19393,NA19440,NA19461,NA19471,NA19651,NA19654,NA19655,NA19658,NA19681,NA19682,NA19684,NA19701,NA19713,NA19725,NA19729,NA19731,NA19747,NA19771,NA19777,NA19779,NA19780,NA19783,NA19835,NA19900,NA19901,NA19904,NA19917,NA19921,NA19982,NA20299,NA20322,NA20340,NA20541,NA20544,NA20582,NA20588,NA20757,NA20769,NA20787,NA20795,NA20800,NA20801,NA20802,NA20810,NA20814,NA20816 nsv3323921 1 4126003 4126175 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475589,nssv14478697,nssv14477742,nssv14474174 M 14 0 4 "" CHM13,HG00514,HG02059,NA12878 nsv2801220 1 4126161 4127638 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690507 M 2 0 1 "" nsv3324346 1 4126260 4127573 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479641,nssv14481484,nssv14473919,nssv14482421,nssv14473123,nssv14482401 M 14 0 6 "" CHM13,HG00268,HG00514,HG02059,HG02106,NA12878 nsv5984330 1 4126261 4126410 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537342 M 405 0 1 "" nsv5957080 1 4126458 4126458 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17377755 M 914 1 0 "" nsv5883110 1 4127040 4127257 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17377629 M 914 0 1 "" nsv1129454 1 4127134 4127228 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962908 M 2 1 0 "" KWS1 nsv3049221 1 4127347 4127407 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14018589 M 2 0 1 "" NA12878 esv3677135 1 4127446 4127567 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498625 M 20 0 1 "" nsv3540488 1 4132626 4132626 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379048 M 9 1 0 "" NA19240 nsv3212957 1 4132626 4142751 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260340,nssv14260339,nssv14260338 M 9 3 0 "" NA19238,NA19239,NA19240 nsv1148039 1 4133090 4133152 CNV insertion John_et_al_2014 26484159 Sequencing nssv4001550 M 1 1 0 "" KWB1 dgv66n152 1 4136463 4139555 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3188218,nsv3186552 M 9 0 0 "" HG00514,NA19240 esv23365 1 4136993 4138968 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16191,esv13534 M 40 0 13 "" NA12004,NA12006,NA12239,NA12287,NA12489,NA12828,NA18505,NA18858,NA18907,NA18909,NA18916,NA19099,NA19147 nsv5607518 1 4137299 4137299 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065257 M 35 1 0 "" HG03125 nsv3325048 1 4137300 4137647 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472286,nssv14473714,nssv14486810 M 14 0 3 "" HG00733,HG01352,HX1 esv1000769 1 4137301 4137706 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3578155 M 3 0 1 "" HuRef nsv6049181 1 4137320 4137320 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528654 M 405 1 0 "" nsv2801863 1 4137325 4137325 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688636 M 2 1 0 "" nsv3324347 1 4137325 4137325 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476485 M 14 1 0 "" CHM1 nsv5984132 1 4137332 4137678 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528603 M 405 0 1 "" nsv3324639 1 4137337 4137337 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487315,nssv14483023,nssv14476511 M 14 3 0 "" HG00268,HG02106,NA19434 nsv5431499 1 4137373 4137837 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903426 M 3202 0 1 "" esv1100125 1 4137381 4137787 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3668289 M 2 0 1 "" HuRef nsv5584501 1 4137382 4137439 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065258 M 35 0 1 "" HG02818 nsv2801221 1 4137383 4137383 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692718 M 2 1 0 "" nsv3323922 1 4137383 4137383 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487266,nssv14475059,nssv14474210,nssv14481279 M 14 4 0 "" CHM13,HG00268,HG00514,HG02106 nsv3325049 1 4137383 4137440 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478301 M 14 0 1 "" HG02059 nsv5984133 1 4137422 4137485 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526392 M 405 0 1 "" nsv3325050 1 4137458 4137458 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482827 M 14 1 0 "" HG01352 nsv3324348 1 4137490 4137490 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490938,nssv14475535,nssv14489989 M 14 3 0 "" HG00514,HG02059,NA19434 nsv5984097 1 4137511 4137578 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535079 M 405 0 1 "" nsv2801222 1 4137548 4137548 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678790 M 2 1 0 "" nsv3323923 1 4137548 4137548 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485289,nssv14482413,nssv14481066,nssv14487411,nssv14484472 M 14 5 0 "" CHM13,HG00268,HG00514,HG02106,NA19434 nsv5620957 1 4137573 4137573 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065259 M 35 1 0 "" NA19238 nsv5621899 1 4137589 4137589 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065260 M 35 1 0 "" HG03371 nsv6040944 1 4137624 4137624 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530733 M 405 1 0 "" nsv3056176 1 4137629 4137629 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14022504 M 2 1 0 "" NA12878 nsv6328698 1 4137632 4138655 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203103 M 19652 1 0 "" nsv2801223 1 4137664 4137664 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685811 M 2 1 0 "" nsv3324640 1 4137664 4137664 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479434,nssv14487980,nssv14481471,nssv14487258,nssv14486080,nssv14484056 M 14 6 0 "" CHM1,HG00268,HG00733,HG02059,NA12878,NA19434 nsv6042345 1 4137670 4137670 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524354 M 405 1 0 "" nsv4444375 1 4137677 4137677 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15764184 M 1 1 0 "" nsv3324349 1 4137688 4137688 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487631,nssv14488267,nssv14492010 M 14 3 0 "" HG00733,HG01352,NA19434 nsv3535667 1 4137712 4137712 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384284 M 9 1 0 "" NA19240 nsv3196110 1 4137712 4138732 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14285937,nssv14285940,nssv14285936,nssv14285941,nssv14285942,nssv14285939,nssv14285938,nssv14285935 M 9 8 0 "" HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5615783 1 4137721 4137721 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065261 M 35 1 0 "" HG00512 nsv4741467 1 4137722 4137778 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273313 M 25 0 1 "" nsv3324350 1 4137731 4137731 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481104 M 14 1 0 "" HG02059 nsv3187051 1 4137777 4137835 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440901 M 9 0 0 "" HG00733 nsv3324641 1 4137779 4137779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477881,nssv14483317,nssv14485158 M 14 3 0 "" CHM1,HG01352,NA19434 nsv2802120 1 4137803 4137803 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688276 M 2 1 0 "" nsv3325051 1 4137803 4137803 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478098,nssv14488519,nssv14485176,nssv14473793,nssv14488679,nssv14478517,nssv14473656 M 14 7 0 "" CHM1,CHM13,HG00268,HG00514,HG02059,HG02106,NA19434 nsv821406 1 4137818 4138918 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420735 M 1 1 0 "" NA10851 nsv5622320 1 4137833 4137833 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065262 M 35 1 0 "" HG00731 nsv3324642 1 4137837 4137837 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486753,nssv14486384,nssv14475498,nssv14490500,nssv14473389,nssv14479823,nssv14481413,nssv14486331 M 14 8 0 "" CHM1,HG00268,HG01352,HG02059,HG02106,HG02818,NA12878,NA19434 nsv5611652 1 4137837 4137837 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065263 M 35 1 0 "" HG00513 nsv2801953 1 4137861 4137861 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693460 M 2 1 0 "" nsv3324351 1 4137861 4137861 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475622,nssv14480391,nssv14485074,nssv14478136,nssv14490342,nssv14472775 M 14 6 0 "" CHM1,HG00268,HG01352,HG02059,HG02106,NA12878 nsv3325052 1 4137864 4137921 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473700 M 14 0 1 "" HG00733 nsv6138673 1 4137879 4138734 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903437 M 3202 1 0 "" nsv3324352 1 4137896 4137896 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489724,nssv14482171,nssv14479453 M 14 3 0 "" CHM1,HG00268,NA12878 nsv3530499 1 4137953 4137953 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440902 M 9 1 0 "" HG00733 nsv2801954 1 4137954 4137954 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677013 M 2 1 0 "" nsv3323924 1 4137954 4137954 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483359,nssv14476726,nssv14480540,nssv14474734,nssv14476256,nssv14490162,nssv14473933,nssv14476790 M 14 8 0 "" CHM13,HG00268,HG00514,HG01352,HG02059,HG02818,NA12878,NA19434 nsv2802121 1 4137963 4137963 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695594 M 2 1 0 "" nsv3324353 1 4137963 4137963 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488835,nssv14480615,nssv14483774,nssv14482632 M 14 4 0 "" CHM1,HG01352,HG02059,NA19434 nsv3051711 1 4137964 4137964 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019575 M 2 1 0 "" NA12878 nsv5567578 1 4138046 4138123 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065264 M 35 0 1 "" HG00096 nsv6042854 1 4138061 4138061 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521965 M 405 1 0 "" nsv2801224 1 4138070 4138070 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689740 M 2 1 0 "" nsv3323925 1 4138070 4138070 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472549,nssv14472253,nssv14477020,nssv14475582,nssv14484336,nssv14481915 M 14 6 0 "" CHM1,HG00268,HG00733,HG02818,NA12878,NA19434 nsv6326777 1 4138087 4195205 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203104 M 19652 1 0 "" nsv5609954 1 4138124 4138124 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065267,nssv17065268,nssv17065265,nssv17065266 M 35 4 0 "" HG00732,HG03125,NA19238,NA20509 nsv6045072 1 4138124 4138124 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528604 M 405 1 0 "" nsv2801225 1 4138125 4138125 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13700374 M 2 1 0 "" nsv3324643 1 4138125 4138125 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475620,nssv14488878,nssv14479410,nssv14477172 M 14 4 0 "" CHM13,HG00514,HG01352,HG02106 nsv3051712 1 4138127 4138127 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020822 M 2 1 0 "" NA12878 nsv2801226 1 4138148 4138148 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688979 M 2 1 0 "" nsv3323926 1 4138148 4138148 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483785,nssv14474534,nssv14481838,nssv14485445,nssv14485984,nssv14490890,nssv14486084 M 14 7 0 "" CHM1,HG00268,HG01352,HG02059,HX1,NA12878,NA19434 nsv3323927 1 4138189 4138189 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478138,nssv14476376 M 14 2 0 "" HG02059,NA19434 nsv3323928 1 4138190 4138190 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472190 M 14 1 0 "" HG01352 nsv2802122 1 4138260 4138260 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683225 M 2 1 0 "" nsv3323929 1 4138260 4138260 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473640,nssv14473210,nssv14487704 M 14 3 0 "" CHM13,HG00514,HG02106 nsv3324355 1 4138343 4138343 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475554 M 14 1 0 "" HG02059 nsv3324644 1 4138364 4138364 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486398 M 14 1 0 "" HG01352 nsv2801864 1 4138410 4138525 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13691944 M 2 0 1 "" nsv3324645 1 4138410 4138525 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479784,nssv14485882,nssv14487410,nssv14482128,nssv14480856,nssv14486619 M 14 0 6 "" CHM13,HG00514,HG00733,HG02059,HG02106,HG02818 nsv3281585 1 4138410 4138526 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14456428 M 9 0 1 "" HG00733 nsv6054300 1 4138413 4138413 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526089 M 405 1 0 "" nsv5581312 1 4138421 4138536 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065269 M 35 0 1 "" HG00096 nsv5984134 1 4138425 4138538 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535080 M 405 0 1 "" nsv6056122 1 4138440 4138440 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529492 M 405 1 0 "" nsv3324356 1 4138537 4138537 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479536,nssv14476481 M 14 2 0 "" HG01352,NA19434 nsv5610079 1 4138537 4138537 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065270,nssv17065924,nssv17065271 M 35 3 0 "" HG00731,HG03125,NA19239 nsv2801865 1 4138538 4138538 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682894 M 2 1 0 "" nsv3324357 1 4138538 4138538 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481527,nssv14473043,nssv14479609,nssv14483389,nssv14486643,nssv14475955,nssv14491819,nssv14476273,nssv14485301 M 14 9 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HX1,NA12878,NA19434 nsv3064127 1 4138539 4138539 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035097 M 2 1 0 "" NA12878 esv1767486 1 4138561 4138561 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4227901 M 2 1 0 "" HuRef nsv6042216 1 4138574 4138574 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535300 M 405 1 0 "" nsv5622402 1 4138793 4138793 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065735,nssv17065925 M 35 2 0 "" NA18534,NA19983 nsv509701 1 4142890 4219900 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619763 M 4 1 0 "" NA10860 esv2637444 1 4154509 4156134 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5194644 M 1 0 1 "" NA18507 esv2259067 1 4154970 4155665 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4563770 M 1 0 1 "" NA18507 esv7346 1 4154995 4155708 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29787 M 1 0 0 "" esv3887 1 4155049 4155584 CNV loss Wang_et_al_2008 18987735 Sequencing essv26328 M 1 0 1 "" YH nsv6319477 1 4155075 4155461 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060786 M 19652 0 1 "" esv3564426 1 4155097 4155500 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9763173 M 767 0 1 "" nsv1147151 1 4155131 4155468 CNV deletion John_et_al_2014 26484159 Sequencing nssv3998511 M 1 0 1 "" KWB1 nsv958832 1 4155141 4155470 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005185 M 1 0 1 "" BILGI_BIOE nsv5578974 1 4155146 4155459 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065740 M 35 0 1 "" HG00731 nsv5883081 1 4155146 4155459 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386023 M 914 0 1 "" esv2659809 1 4155146 4155460 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6477362,essv5915358,essv5488708,essv6010525,essv6329663,essv5718766,essv6228607,essv5765320,essv5491401,essv5593100,essv5467145,essv5591604,essv5838549,essv6568262,essv6209196,essv6328172,essv5988594,essv5878980,essv5447402,essv6028267,essv6337110,essv5814198,essv5632950,essv6281240,essv6301110,essv6195976,essv5591860,essv6194290,essv6358413,essv5642732,essv6335322,essv6255646,essv5937739,essv5796023,essv6337571,essv5440445,essv5507486,essv5891153,essv5799845,essv5495316,essv6120348,essv6260930,essv5996809,essv6431479,essv5561679,essv6145633,essv6499923,essv5462741,essv6040682,essv5555798,essv6051382,essv5420359,essv6494614,essv5814062,essv5671159,essv6466324,essv6045932,essv6048564,essv6121569,essv5744657,essv5626489,essv5455457,essv6011900,essv6539504,essv6213962,essv5754352,essv6054367,essv6421493,essv5810987,essv6069405,essv5656859,essv5490043,essv5731908,essv5552172,essv6069255,essv5960624,essv6470268,essv5891577,essv6123322,essv5525436,essv5745546,essv5722186,essv6099027,essv6271856,essv6233458,essv6060093,essv6442475,essv5481254,essv6088219,essv5580054,essv6268208,essv6579998,essv6317148,essv5683739,essv5851281,essv6472934,essv5835084,essv5472316,essv5564291,essv5595811,essv5676682,essv6512049,essv6299436,essv6249042,essv5860012,essv5576029,essv5929321,essv6241220,essv6265616,essv5689998,essv5515568,essv6228892,essv5922256,essv5933179,essv6358726,essv5999238,essv5669178,essv5711005,essv6587724,essv5462278,essv5872828,essv5592072,essv6494997,essv5679696,essv5586893,essv5764782,essv6343326,essv5828050,essv5769643,essv6327230,essv6267344,essv5655150,essv6143554,essv5610594,essv6227312,essv6370681,essv6385060,essv5692571,essv5570050,essv6196148,essv6118494,essv6025572,essv5409673,essv5984015,essv5537723,essv6397348,essv5881248,essv6134085,essv6365285,essv5581861,essv6274740,essv6050377,essv5918981,essv6420096,essv6003168,essv6038483,essv6541439,essv5928753,essv5733440,essv6243065,essv5934353,essv5649371,essv6524458,essv5907886,essv5625809,essv6543566,essv5862358,essv6518642,essv6042936,essv5769818,essv6503444,essv5488685,essv5425839,essv5814097,essv5434883,essv6563655,essv6485976,essv5849778,essv6343669,essv6414749,essv5474602,essv5544662,essv6510565,essv5596722,essv6172272,essv6305227,essv5738329,essv5835270,essv5964268,essv5864499,essv5743495,essv6086340,essv5690906,essv6199654,essv5795700,essv5659417,essv5510387,essv6364771,essv6000843,essv5436690,essv5657760,essv6219195,essv6108426,essv5444651,essv6534486,essv6489866,essv6242330,essv6198656,essv5544138,essv6568831,essv5764796,essv5849868,essv5966344,essv5763684,essv6315836,essv5662498,essv5958672,essv6533852,essv5507771,essv6009282,essv6376492,essv6203294,essv5849907,essv6451822,essv6339112,essv6301949,essv6433499,essv6004457,essv6541718,essv6011822,essv6534190,essv5473701,essv6260811,essv6567490,essv6009350,essv6482512,essv6315089,essv6297843,essv5888174,essv5735936,essv5525642,essv5822662,essv6155237,essv6123979,essv5942658,essv6253377,essv5404760,essv5982823,essv6438894,essv5601001,essv6390173,essv5924139,essv5935568,essv6329900,essv6593647,essv6421277,essv6449283,essv5824039,essv5836794,essv5554398,essv5975240,essv5779455,essv6361757,essv6272544,essv5416954,essv5444318,essv5716477,essv6036697,essv5480437,essv6211677,essv6285170,essv6199612,essv6009645,essv5460824,essv5787329,essv5649593,essv6257016,essv5778315,essv6582880,essv6222095,essv6455316,essv5906743,essv6207058,essv5502153,essv5690829,essv6409615,essv5829028,essv5950218,essv5936481,essv6260502,essv5956536,essv6181254,essv5633885,essv5461293,essv5412231,essv6001636,essv5657182,essv6034621,essv5638599,essv5927617,essv6584811,essv5593442,essv6589774,essv6225461,essv6213691,essv5782772,essv5487258,essv5906556,essv5530755,essv6472399,essv5417753,essv6026602,essv6355014,essv6168254,essv5815861,essv5948978,essv5674114,essv5513721,essv5492376,essv6086033,essv6092118,essv6489344,essv5797735,essv6149254,essv5645667,essv5416350,essv5619817,essv5440623,essv5596636,essv5454654,essv6089500,essv6443566,essv5423894,essv5539881,essv5987438,essv5423090,essv5859917,essv5949633,essv5851499,essv5735011,essv5986805,essv5989382,essv6445846,essv6239144,essv5445907,essv5432076,essv5811643,essv6414649,essv6448732,essv5969913,essv6174952,essv6455508,essv5554740,essv6010927,essv6003735,essv5667647,essv6082581,essv5552684,essv5766200,essv6553473,essv6284332,essv5797462,essv5557671,essv6457412,essv6159333,essv5613485,essv5493619,essv6454762,essv5914215,essv5645752,essv6028911,essv6316905,essv5584199,essv5738061,essv6521397,essv5624570,essv5493486,essv5864800,essv5745115,essv5738540,essv6263061,essv5779445,essv5825090,essv6254490,essv5971923,essv5697605,essv6161799,essv6344031,essv5958282,essv5618172,essv6190853,essv5857215,essv6281010,essv6593631,essv5869603,essv6026626,essv5742125,essv5931393,essv5709559,essv5908317,essv5574495,essv6159535,essv5527706,essv6040550,essv6535724,essv5400647,essv5953199,essv6132364,essv6148691,essv6440640,essv5700429,essv5645674,essv5792661,essv5625067,essv5790800,essv5675048,essv5539220,essv5436209,essv6001124,essv6256649,essv6496217,essv5439720,essv5871249,essv6101480,essv5874014,essv6231357,essv6484139,essv6069086,essv5425928,essv6571288,essv6371379,essv5850246,essv6116518,essv5742053,essv6490815,essv5463504,essv5514146,essv6313715,essv5662536,essv5931499,essv5995758,essv5695013,essv5514413,essv6112515,essv5840392,essv6003159,essv5851870,essv5545113,essv5721676,essv5883312,essv6236443,essv5710458,essv5568383,essv6426524,essv5619959,essv5934874,essv5563752,essv6395431,essv5551978,essv6176070,essv5436195,essv5468302,essv5794764,essv5795580,essv5949728,essv6087791,essv5570464,essv5718527,essv5864085,essv5828845,essv5584652,essv6079631,essv5580077,essv6178006,essv6593828,essv6211474,essv5553553,essv6455651,essv6248593,essv5429972,essv6595989,essv6062496,essv5613942,essv5759384,essv6237314,essv5860078,essv5854357,essv5460664,essv6389276,essv6088301,essv6282481,essv6109964,essv5546711,essv6100412,essv6162983,essv5907229,essv5693520 M 1151 0 497 "" HG00106,HG00108,HG00111,HG00117,HG00119,HG00124,HG00131,HG00136,HG00139,HG00140,HG00141,HG00142,HG00145,HG00149,HG00152,HG00158,HG00160,HG00177,HG00180,HG00182,HG00188,HG00237,HG00239,HG00246,HG00251,HG00253,HG00257,HG00263,HG00264,HG00265,HG00273,HG00275,HG00276,HG00278,HG00280,HG00282,HG00285,HG00306,HG00309,HG00319,HG00320,HG00324,HG00325,HG00326,HG00327,HG00328,HG00335,HG00337,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00361,HG00377,HG00404,HG00421,HG00422,HG00428,HG00473,HG00475,HG00479,HG00500,HG00513,HG00533,HG00534,HG00536,HG00556,HG00559,HG00566,HG00578,HG00581,HG00583,HG00584,HG00589,HG00590,HG00595,HG00610,HG00611,HG00613,HG00619,HG00626,HG00634,HG00638,HG00640,HG00654,HG00656,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00704,HG00705,HG00708,HG00731,HG01047,HG01052,HG01060,HG01061,HG01069,HG01070,HG01072,HG01073,HG01080,HG01095,HG01098,HG01102,HG01107,HG01108,HG01112,HG01124,HG01133,HG01134,HG01136,HG01137,HG01140,HG01170,HG01171,HG01173,HG01174,HG01177,HG01183,HG01204,HG01250,HG01251,HG01253,HG01254,HG01334,HG01342,HG01350,HG01353,HG01354,HG01356,HG01357,HG01359,HG01360,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01384,HG01437,HG01440,HG01441,HG01455,HG01461,HG01465,HG01488,HG01489,HG01491,HG01497,HG01498,HG01550,HG01551,NA06986,NA07000,NA07037,NA07346,NA07347,NA07357,NA10851,NA11831,NA11843,NA11881,NA11892,NA11894,NA11919,NA11920,NA11931,NA11933,NA11994,NA11995,NA12003,NA12005,NA12046,NA12058,NA12154,NA12155,NA12273,NA12342,NA12383,NA12400,NA12414,NA12489,NA12748,NA12763,NA12775,NA12813,NA12827,NA12830,NA12891,NA12892,NA18486,NA18487,NA18489,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18534,NA18536,NA18539,NA18544,NA18545,NA18547,NA18548,NA18549,NA18553,NA18558,NA18560,NA18563,NA18567,NA18570,NA18571,NA18572,NA18574,NA18577,NA18595,NA18596,NA18603,NA18608,NA18610,NA18613,NA18615,NA18619,NA18620,NA18621,NA18626,NA18633,NA18636,NA18853,NA18856,NA18858,NA18861,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18907,NA18908,NA18909,NA18910,NA18912,NA18916,NA18923,NA18924,NA18933,NA18934,NA18940,NA18941,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18950,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18963,NA18964,NA18965,NA18967,NA18968,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18980,NA18981,NA18982,NA18984,NA18985,NA18986,NA18987,NA18989,NA18990,NA19000,NA19003,NA19005,NA19007,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19076,NA19077,NA19078,NA19079,NA19080,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088,NA19092,NA19093,NA19098,NA19099,NA19102,NA19107,NA19108,NA19114,NA19116,NA19119,NA19129,NA19130,NA19131,NA19137,NA19138,NA19144,NA19147,NA19152,NA19153,NA19159,NA19160,NA19171,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19201,NA19204,NA19207,NA19209,NA19210,NA19213,NA19225,NA19235,NA19238,NA19239,NA19240,NA19248,NA19256,NA19257,NA19311,NA19312,NA19318,NA19334,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19384,NA19385,NA19390,NA19391,NA19393,NA19396,NA19398,NA19401,NA19403,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19453,NA19455,NA19457,NA19462,NA19466,NA19467,NA19469,NA19470,NA19471,NA19472,NA19474,NA19625,NA19655,NA19660,NA19664,NA19670,NA19684,NA19685,NA19700,NA19703,NA19704,NA19707,NA19712,NA19729,NA19777,NA19779,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19904,NA19909,NA19914,NA19916,NA19920,NA19985,NA20276,NA20281,NA20289,NA20332,NA20342,NA20503,NA20505,NA20509,NA20512,NA20513,NA20516,NA20519,NA20520,NA20521,NA20525,NA20533,NA20536,NA20537,NA20542,NA20581,NA20582,NA20586,NA20754,NA20759,NA20765,NA20771,NA20795,NA20798,NA20803,NA20804,NA20805,NA20808,NA20813,NA20815,NA20818,NA20819,NA20826 nsv5984225 1 4155146 4155460 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519626 M 405 0 1 "" dgv67n152 1 4155146 4155461 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3177428,nsv3520830,nsv3190142 M 9 0 7 "" HG00513,HG00514,HG00731,HG00733,NA19238,NA19239,NA19240 esv3677175 1 4155146 4155461 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498661 M 20 0 1 "" dgv23n106 1 4155146 4155483 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1113062,nsv1140212 M 2 0 2 "" KWS1,KWS2 nsv2801227 1 4155148 4155461 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13687382 M 2 0 1 "" nsv3324646 1 4155148 4155461 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14490394,nssv14472279,nssv14472626,nssv14481514,nssv14483449,nssv14475174,nssv14487598,nssv14486523 M 14 0 8 "" CHM1,HG00268,HG00514,HG00733,HG02818,HG04217,NA19240,NA19434 nsv3057344 1 4155148 4155462 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14023331 M 2 0 1 "" CHM1 nsv4744075 1 4155151 4155465 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16265395 M 25 0 1 "" nsv4048944 1 4155159 4155460 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853200 M 10847 0 1 "" nsv5416856 1 4155159 4155460 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903457 M 3202 0 1 "" nsv4034916 1 4159686 4160480 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853210 M 10847 0 1 "" nsv5415498 1 4159686 4160480 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903479 M 3202 0 1 "" nsv5984226 1 4159758 4160476 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523586 M 405 0 1 "" nsv5415162 1 4159925 4160081 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904421 M 3202 0 1 "" nsv4042146 1 4159938 4160754 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850403 M 10847 0 1 "" nsv5984098 1 4159968 4160173 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528746 M 405 0 1 "" nsv4767118 1 4159971 4159971 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295792 M 25 1 0 "" nsv3538483 1 4159996 4159996 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440903 M 9 1 0 "" HG00733 nsv3324358 1 4160007 4160007 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489872,nssv14486852,nssv14488127 M 14 3 0 "" HG00268,HG04217,NA19240 nsv6050083 1 4160018 4160018 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528207 M 405 1 0 "" nsv3531889 1 4160024 4160024 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375775 M 9 1 0 "" NA19240 nsv5616299 1 4160041 4160041 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065741 M 35 1 0 "" HG00512 nsv3324647 1 4160066 4160066 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483763,nssv14482966,nssv14478224 M 14 3 0 "" CHM1,HG00268,HG04217 nsv3325055 1 4160067 4160067 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474058,nssv14479506,nssv14472661,nssv14485222,nssv14478677 M 14 5 0 "" HG00268,HG02059,HG04217,NA19240,NA19434 nsv2801866 1 4160078 4160078 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676877 M 2 1 0 "" nsv3280338 1 4160081 4160153 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14436614 M 9 0 1 "" HG00514 nsv3324648 1 4160097 4160097 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487212,nssv14480839,nssv14487675,nssv14479687,nssv14490522 M 14 5 0 "" HG00268,HG00733,HG02059,HG04217,NA19434 nsv3325056 1 4160163 4160163 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484705 M 14 1 0 "" NA19240 nsv5621023 1 4160178 4160178 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065742 M 35 1 0 "" HG00731 nsv3324359 1 4160182 4160182 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488071 M 14 1 0 "" CHM1 nsv3926299 1 4160220 4160220 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189304 M 1 1 0 "" HG002 nsv3532217 1 4160255 4160255 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379049 M 9 1 0 "" NA19240 nsv3180227 1 4176121 4176269 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14437011 M 9 0 0 "" HG00514 nsv4461158 1 4177315 4177316 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022146 M 10847 1 0 "" nsv6335006 1 4179713 4244138 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203113 M 19652 1 0 "" nsv3210882 1 4186970 4227275 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260876,nssv14260875,nssv14260882,nssv14260881,nssv14260879,nssv14260877,nssv14260878,nssv14260880 M 9 8 0 "" HG00512,HG00513,HG00514,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4754355 1 4189871 4189871 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16267226 M 25 1 0 "" nsv5569234 1 4189873 4189932 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065748 M 35 0 1 "" HG03125 nsv5872753 1 4189873 4189932 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373218 M 914 0 1 "" nsv5984332 1 4189890 4189946 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521943 M 405 0 1 "" nsv6043817 1 4189964 4189964 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536025 M 405 1 0 "" nsv1011866 1 4190253 4242573 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471886 M 11257 1 0 "" nsv6319757 1 4191788 4207699 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203115 M 19652 1 0 "" esv3585059 1 4194291 4196163 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844487 M 2504 0 1 "" HG01921 nsv5416412 1 4194336 4196028 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904422 M 3202 0 1 "" nsv4041649 1 4195071 4195234 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850412 M 10847 0 1 "" nsv5423007 1 4195071 4195234 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904423 M 3202 0 1 "" nsv6319656 1 4195985 4196567 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060803 M 19652 0 1 "" nsv1078722 1 4196028 4196589 CNV insertion Thareja_et_al_2015 25765185 Sequencing nssv3770338 M 1 1 0 "" KWP1 nsv6334288 1 4196174 4196758 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203116 M 19652 1 0 "" nsv6137976 1 4196175 4196707 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904424 M 3202 1 0 "" nsv6048082 1 4196564 4196564 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518164 M 405 1 0 "" nsv3540480 1 4196763 4196763 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413086 M 9 1 0 "" HG00514 nsv3054054 1 4196766 4196766 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029583 M 2 1 0 "" NA12878 nsv3539809 1 4196778 4196778 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440904,nssv14386944 M 9 2 0 "" HG00733,NA19240 nsv3928311 1 4196778 4196778 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189323 M 1 1 0 "" HG002 nsv5606117 1 4196778 4196778 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065750 M 35 1 0 "" HG00731 nsv2801956 1 4196779 4196779 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689591,nssv13686231 M 2 2 0 "" nsv3323932 1 4196779 4196779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483792,nssv14472821,nssv14489499,nssv14488478,nssv14480916,nssv14482752,nssv14478522,nssv14473327,nssv14490175,nssv14476086,nssv14484164,nssv14476503,nssv14477924,nssv14488645 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv6058894 1 4196796 4196796 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519798 M 405 1 0 "" esv1112137 1 4196797 4196797 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4248978 M 2 1 0 "" HuRef nsv3060817 1 4196798 4196798 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019238 M 2 1 0 "" CHM1 nsv5418294 1 4196843 4222687 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904425 M 3202 1 0 "" nsv3054055 1 4196905 4196905 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14024122 M 2 1 0 "" NA12878 esv3585060 1 4197459 4220364 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844490,essv9844489,essv9844488 M 2504 3 0 "" HG00704,HG02481,NA20872 nsv4041084 1 4201419 4201513 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964024 M 10847 1 0 "" nsv3203111 1 4204239 4204511 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14287928 M 9 1 0 "" HG00512 esv7714 1 4204440 4204620 CNV gain Ahn_et_al_2009 19470904 Sequencing essv30155 M 1 0 0 "" nsv4765267 1 4204486 4204486 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16268785 M 25 1 0 "" nsv4730695 1 4204486 4205034 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16279787 M 25 1 0 "" nsv1078723 1 4204523 4204610 CNV insertion Thareja_et_al_2015 25765185 Sequencing nssv3766361 M 1 1 0 "" KWP1 nsv3054056 1 4204527 4204527 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033014 M 2 1 0 "" NA12878 nsv3536176 1 4204541 4204541 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413087,nssv14383081 M 9 2 0 "" HG00514,NA19240 nsv1140404 1 4204541 4204676 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979110,nssv3987944 M 2 2 0 "" KWS1,KWS2 nsv3526517 1 4204541 4204686 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14286366 M 9 1 0 "" HG00512 nsv5417099 1 4204541 4204693 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904426 M 3202 1 0 "" nsv3324653 1 4204542 4204542 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479799,nssv14487851,nssv14484418,nssv14484413,nssv14476515,nssv14476056 M 14 6 0 "" HG00268,HG01352,HG02059,HG02106,HG04217,HX1 nsv1149892 1 4204562 4204634 CNV insertion John_et_al_2014 26484159 Sequencing nssv3998679 M 1 1 0 "" KWB1 nsv3541665 1 4204568 4204568 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440905 M 9 1 0 "" HG00733 nsv1074544 1 4204628 4204726 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772339 M 1 0 1 "" KWP1 dgv24n106 1 4204629 4204717 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1113063,nsv1126968 M 2 0 2 "" KWS1,KWS2 esv3564537 1 4204636 4204688 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9763284 M 767 0 1 "" nsv5984333 1 4204636 4204688 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525378 M 405 0 1 "" esv3677200 1 4204636 4204689 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498684 M 20 0 1 "" nsv3535647 1 4204653 4204653 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440906 M 9 1 0 "" HG00733 nsv3531942 1 4204657 4204657 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413088,nssv14389365 M 9 2 0 "" HG00514,NA19240 esv3564648 1 4204667 4204717 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9763395 M 767 0 1 "" nsv3530936 1 4204675 4204675 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413089 M 9 1 0 "" HG00514 esv2619231 1 4204675 4204724 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5231288 M 1 0 1 "" NA18507 nsv3542905 1 4204676 4204676 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387930 M 9 1 0 "" NA19240 nsv6059028 1 4204685 4204685 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517973 M 405 1 0 "" nsv3942483 1 4204688 4204688 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189344 M 1 1 0 "" HG002 nsv5621674 1 4204688 4204688 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065754 M 35 1 0 "" HG00731 nsv6058119 1 4204688 4204688 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535587 M 405 1 0 "" nsv2801867 1 4204692 4204692 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13696393 M 2 1 0 "" nsv3065757 1 4204692 4204692 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017132 M 2 1 0 "" CHM1 nsv3192983 1 4204693 4205000 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14287583 M 9 0 1 "" HG00512 nsv2801958 1 4204694 4204694 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680846 M 2 1 0 "" nsv3323935 1 4204694 4204694 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489373,nssv14487659,nssv14475938,nssv14489131,nssv14476231,nssv14476923,nssv14477579,nssv14477930,nssv14476360,nssv14482278,nssv14491764,nssv14488652,nssv14476419,nssv14491488 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3534963 1 4204695 4204695 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413090,nssv14440909 M 9 2 0 "" HG00514,HG00733 nsv3064129 1 4204786 4204786 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035806 M 2 1 0 "" NA12878 nsv5611054 1 4210105 4210105 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065755 M 35 1 0 "" HG00513 nsv6046100 1 4210105 4210105 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526225 M 405 1 0 "" nsv5433361 1 4210105 4210164 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904428 M 3202 1 0 "" nsv3183186 1 4210141 4210191 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413091 M 9 0 0 "" HG00514 nsv6056611 1 4210152 4210152 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534120 M 405 1 0 "" nsv5984334 1 4211477 4211558 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519793 M 405 0 1 "" nsv5984136 1 4211935 4212010 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528734 M 405 0 1 "" nsv1133796 1 4211996 4212055 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969366 M 2 0 1 "" KWS2 nsv4461904 1 4213905 4213906 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022156 M 10847 1 0 "" nsv5871333 1 4215410 4215549 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385192 M 914 0 1 "" nsv4046856 1 4215418 4215526 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850421 M 10847 0 1 "" nsv5415546 1 4215418 4215526 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904430 M 3202 0 1 "" nsv527177 1 4216862 4227094 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703573 M 2026 0 1 "" nsv4761311 1 4222762 4222762 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16279981 M 25 1 0 "" nsv3537145 1 4222780 4222780 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413092,nssv14377622,nssv14440021 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3925070 1 4222780 4222780 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189345 M 1 1 0 "" HG002 nsv4444376 1 4222780 4222780 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15760964 M 1 1 0 "" nsv5609326 1 4222780 4222780 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065768 M 35 1 0 "" HG00731 nsv6046236 1 4222780 4222780 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528470 M 405 1 0 "" nsv2802126 1 4222781 4222781 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13705346 M 2 1 0 "" nsv3054057 1 4222781 4222781 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021871 M 2 1 0 "" NA12878 nsv3325059 1 4222781 4222781 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478976,nssv14476751,nssv14481150,nssv14475897,nssv14488354,nssv14477767,nssv14488782,nssv14484309,nssv14477759,nssv14474874,nssv14480935,nssv14479304,nssv14489503 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 nsv6316519 1 4231707 4238068 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060810 M 19652 0 1 "" esv3585061 1 4232074 4233113 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844492,essv9844491 M 2504 0 2 "" HG02813,HG03246 nsv5416244 1 4232104 4233078 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903844 M 3202 0 1 "" nsv4035799 1 4235907 4242605 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850431 M 10847 0 1 "" nsv830536 1 4240010 4385181 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442018 M 95 1 0 "" nsv6323695 1 4246525 4246772 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203120 M 19652 1 0 "" nsv4049683 1 4246525 4246776 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964033 M 10847 1 0 "" nsv5428402 1 4246525 4246776 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903845 M 3202 1 0 "" nsv6333180 1 4250561 4252260 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060819 M 19652 0 1 "" nsv5830201 1 4252431 4253730 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466992,nssv17459806 M 914 0 0 "" nsv5886141 1 4254696 4255082 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17389440 M 914 0 1 "" nsv4051808 1 4257040 4259111 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850441 M 10847 0 1 "" esv3585062 1 4263601 4353020 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844493 M 2504 1 0 "" HG02481 nsv5830320 1 4264765 4265864 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461090,nssv17459239 M 914 0 0 "" nsv3210056 1 4265712 4288784 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14276351,nssv14276350 M 9 0 2 "" HG00512,NA19238 nsv4034652 1 4270883 4271480 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850821 M 10847 0 1 "" esv3564870 1 4271187 4271483 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9763617 M 767 0 1 "" nsv5868562 1 4271198 4271479 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372371 M 914 0 1 "" nsv5426292 1 4271209 4271480 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903846 M 3202 0 1 "" nsv5953411 1 4271455 4271455 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17384776 M 914 1 0 "" nsv5830013 1 4275292 4276391 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452033,nssv17456105 M 914 0 0 "" nsv830647 1 4277307 4447580 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442029 M 95 1 0 "" nsv4535650 1 4279681 4279682 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022165 M 10847 1 0 "" nsv6044361 1 4279686 4279686 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527234 M 405 1 0 "" nsv1003469 1 4280170 4302161 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466239 M 11257 0 1 "" nsv6543259 1 4280466 4290797 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250970 M 19652 0 0 "" nsv5984104 1 4280898 4281274 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523289 M 405 0 1 "" nsv6330394 1 4280898 4281274 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060830 M 19652 0 1 "" nsv4517901 1 4280901 4281274 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850847 M 10847 0 1 "" nsv5427177 1 4280901 4281274 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903848 M 3202 0 1 "" nsv4433130 1 4280902 4281274 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15747562 M 15 0 1 "" NB07 nsv4050472 1 4281242 4303697 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850855 M 10847 0 1 "" nsv6330894 1 4281242 4303697 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060832 M 19652 0 1 "" nsv3194305 1 4282295 4286657 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255698 M 9 0 1 "" NA19240 esv3585063 1 4284510 4285952 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844510,essv9844506,essv9844509,essv9844498,essv9844508,essv9844502,essv9844495,essv9844494,essv9844505,essv9844511,essv9844499,essv9844512,essv9844504,essv9844507,essv9844497,essv9844503,essv9844496,essv9844500,essv9844501 M 2504 0 19 "" HG01497,HG02013,HG02502,HG02586,HG02715,HG02768,HG02804,HG02882,HG03123,HG03124,HG03372,HG03388,HG03394,HG03464,NA19131,NA19184,NA19238,NA19713,NA20351 dgv8e199 1 4284551 4285955 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2657756,esv2673458 M 1151 0 4 "" NA19238,NA19240,NA19704,NA19713 nsv5830202 1 4284585 4285984 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455909 M 914 0 0 "" nsv5583287 1 4284606 4285942 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065332 M 35 0 1 "" NA19238 nsv5885772 1 4284606 4285942 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375104 M 914 0 1 "" nsv6323529 1 4284606 4285943 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060833 M 19652 0 1 "" nsv3201718 1 4284606 4285944 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14291808,nssv14291807 M 9 0 2 "" NA19238,NA19240 nsv3324657 1 4284607 4285943 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480659 M 14 0 1 "" NA19240 nsv3185484 1 4284607 4285944 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14411411 M 9 0 0 "" NA19240 nsv4044614 1 4284610 4285943 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850864 M 10847 0 1 "" nsv5427091 1 4284610 4285943 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903849 M 3202 0 1 "" esv25427 1 4284635 4286005 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14207 M 40 0 1 "" NA19240 esv3390866 1 4288441 4288460 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678401 M 185 1 0 "" NA19240 esv3309075 1 4288449 4288450 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843075,essv7842708,essv7842258 M 185 3 0 "" NA19238,NA19239,NA19240 nsv3524115 1 4288450 4288450 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382623 M 9 1 0 "" NA19240 nsv5399818 1 4288450 4288450 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903850 M 3202 1 0 "" nsv5620421 1 4288450 4288450 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065334 M 35 1 0 "" NA19238 nsv5963899 1 4288450 4288450 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17388881 M 914 1 0 "" nsv4532784 1 4288450 4288451 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023573 M 10847 1 0 "" esv3409348 1 4288450 4288462 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898480,essv8898472,essv8898469,essv8898474,essv8898473,essv8898482,essv8898478,essv8898471,essv8898477,essv8898479,essv8898475,essv8898476 M 185 12 0 "" NA11920,NA12044,NA18489,NA18501,NA18505,NA18517,NA18858,NA18870,NA18912,NA19108,NA19129,NA19190 nsv3325064 1 4288451 4288451 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14478812,nssv14482730,nssv14483308 M 14 3 0 "" HG00268,HG04217,NA19240 nsv6041205 1 4288451 4288451 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521623 M 405 1 0 "" esv3307842 1 4288454 4288455 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7741132,essv7747544,essv7752966,essv7760907,essv7762140,essv7758826,essv7760230,essv7756460,essv7746447,essv7746182,essv7761652,essv7744805,essv7756302,essv7750355,essv7755504 M 185 15 0 "" NA11920,NA12044,NA18489,NA18501,NA18505,NA18517,NA18858,NA18870,NA18912,NA19108,NA19129,NA19190,NA19238,NA19239,NA19240 nsv4768284 1 4288458 4288458 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288549 M 25 1 0 "" nsv3561827 1 4288465 4288465 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14287124,nssv14287123,nssv14287125 M 9 3 0 "" NA19238,NA19239,NA19240 nsv5686264 1 4288465 4288465 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188230,nssv17203579 M 3202 2 0 "" nsv6245309 1 4288465 4288465 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17838702 M 1021 1 0 "" esv3405644 1 4288466 4288514 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674019,essv8674017,essv8674018 M 185 3 0 "" NA19238,NA19239,NA19240 esv3688146 1 4288552 4288552 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472408 M 20 1 0 "" esv3585065 1 4289375 4295838 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844981 M 2504 0 1 "" NA18645 nsv5417009 1 4289420 4295810 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903852 M 3202 0 1 "" nsv6317777 1 4302361 4304460 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060480 M 19652 0 1 "" nsv6317756 1 4307261 4308860 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060482 M 19652 0 1 "" nsv4461907 1 4310880 4310881 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023584 M 10847 1 0 "" nsv4051951 1 4313280 4334509 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852834 M 10847 0 1 "" nsv4049472 1 4319106 4319601 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852842 M 10847 0 1 "" nsv6333447 1 4319106 4319601 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060489 M 19652 0 1 "" nsv4048691 1 4323696 4324051 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852852 M 10847 0 1 "" nsv6326365 1 4325727 4326227 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060492 M 19652 0 1 "" esv3585066 1 4327442 4349182 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844982 M 2504 1 0 "" HG02481 nsv5984105 1 4334185 4334246 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536340 M 405 0 1 "" esv3688212 1 4334302 4334302 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472468 M 20 1 0 "" nsv6329687 1 4344096 4551117 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203131 M 19652 1 0 LOC284661 nsv4461205 1 4351216 4351217 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024152 M 10847 1 0 "" nsv4041566 1 4356205 4356324 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853219 M 10847 0 1 "" nsv5957116 1 4356391 4356391 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17381962 M 914 1 0 "" nsv4461747 1 4359123 4359124 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024160 M 10847 1 0 "" nsv5683599 1 4359138 4359138 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188913,nssv17203580 M 3202 2 0 "" nsv6245616 1 4359138 4359138 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839540 M 1021 1 0 "" nsv5409517 1 4359138 4359189 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903857 M 3202 1 0 "" nsv5958364 1 4363039 4363039 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17381919 M 914 1 0 "" nsv6051167 1 4363039 4363039 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518737 M 405 1 0 "" nsv4534307 1 4363039 4363040 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024170 M 10847 1 0 "" nsv5606606 1 4363043 4363043 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065350 M 35 1 0 "" HG00732 nsv159648 1 4363044 4363044 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178226 M 24 "" nsv4753784 1 4363050 4363050 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16282401 M 25 1 0 "" nsv3325068 1 4363059 4363059 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485789 M 14 1 0 "" HX1 nsv5984145 1 4363254 4363323 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534848 M 405 0 1 "" nsv5572694 1 4363290 4363339 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065351 M 35 0 1 "" HG03009 nsv1075054 1 4364350 4364416 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763220 M 1 0 1 "" KWP1 nsv1145311 1 4364351 4364416 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982402 M 2 0 1 "" KWS1 esv2676117 1 4364476 4366851 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5633387 M 1151 0 1 "" HG00543 nsv5421933 1 4364598 4366794 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903858 M 3202 0 1 "" nsv5984235 1 4364598 4366795 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525070 M 405 0 1 "" esv3585067 1 4364598 4366814 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844983 M 2504 0 1 "" HG00543 nsv4461165 1 4372778 4372779 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024180 M 10847 1 0 "" nsv5680095 1 4372792 4372792 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17190625 M 3202 1 0 "" nsv5409302 1 4372792 4372843 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903866 M 3202 1 0 "" nsv545137 1 4381253 4393442 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708852 M 17421 0 1 "" nsv5617900 1 4387097 4387097 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065358 M 35 1 0 "" HG02818 nsv5984566 1 4387103 4387184 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528285 M 405 0 1 "" nsv4757693 1 4387175 4387175 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16262797 M 25 1 0 "" nsv3324664 1 4387206 4387206 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476330 M 14 1 0 "" HG02059 esv3677301 1 4387216 4387299 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498775 M 20 0 1 "" nsv6046120 1 4387227 4387227 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521864 M 405 1 0 "" nsv3325070 1 4387275 4387275 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483142 M 14 1 0 "" HG02059 nsv5868774 1 4388853 4388904 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375269 M 914 0 1 "" nsv3217459 1 4389304 4417392 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271629,nssv14271630,nssv14271632,nssv14271631 M 9 4 0 "" HG00512,HG00513,HG00514,HG00732 nsv545138 1 4390289 4393029 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708853 M 17421 0 1 "" nsv3227431 1 4390711 4399197 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14272876 M 9 1 0 "" HG00514 nsv3177887 1 4390996 4394628 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14435764,nssv14435765 M 9 0 0 "" HG00514 esv28339 1 4391581 4404275 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv19856,esv11599,esv14362,esv17261,esv17217 M 40 9 24 "" NA06985,NA11894,NA11931,NA12287,NA12414,NA12489,NA12828,NA12878,NA15510,NA18505,NA18511,NA18517,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv4756082 1 4391752 4391752 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16276910 M 25 1 0 "" nsv5619312 1 4391929 4391929 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065360 M 35 1 0 "" HG00512 nsv3323939 1 4391997 4391997 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482680,nssv14482932,nssv14475921,nssv14477465 M 14 4 0 "" HG00514,HG02059,HG04217,NA19434 nsv6041091 1 4391998 4391998 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524593 M 405 1 0 "" nsv3323940 1 4392070 4392070 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473441,nssv14487742,nssv14472387,nssv14482062 M 14 4 0 "" HG00514,HG02059,HG04217,NA19434 nsv5880683 1 4392090 4392168 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17379151 M 914 0 1 "" nsv5604768 1 4392095 4392095 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065361 M 35 1 0 "" HG00512 nsv3324665 1 4392165 4392165 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475256,nssv14487727,nssv14481765,nssv14485067 M 14 4 0 "" HG00514,HG02059,HG04217,NA19434 nsv5967472 1 4392170 4392170 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17369847 M 914 1 0 "" esv3672081 1 4392170 4392171 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494077 M 20 0 0 "" nsv4433133 1 4392203 4393486 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15751569 M 15 0 1 "" NB10 nsv4444377 1 4392228 4393635 OTHER complex Genome_in_a_Bottle 32541955 Sequencing nssv15759588 M 1 0 0 "" nsv5984149 1 4392421 4393630 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17528653 M 405 1 0 "" nsv3208749 1 4392422 4392480 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14288133 M 9 0 1 "" HG00732 nsv5572970 1 4392467 4392582 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065362 M 35 0 1 "" HG00512 nsv6138931 1 4392467 4392902 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906067 M 3202 0 1 "" nsv3324666 1 4392468 4392525 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474836,nssv14474762 M 14 0 2 "" HG02059,HG04217 nsv6057551 1 4392488 4392488 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521225 M 405 1 0 "" nsv545141 1 4392511 4393082 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708864,nssv708868,nssv708867,nssv708866,nssv708865,nssv708874,nssv708869,nssv708863,nssv708871,nssv708872,nssv708862,nssv708861,nssv708870,nssv708873 M 17421 11 3 "" dgv58n54 1 4392511 4393104 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545140,nsv545139,nsv545142,nsv545149 M 17421 0 9 "" dgv59n54 1 4392511 4393442 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545144,nsv545143 M 17421 28 10 "" nsv545145 1 4392511 4395235 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708916,nssv708915,nssv708914 M 17421 0 3 "" nsv511131 1 4392511 4395812 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626587 M 1 0 1 "" 1 dgv60n54 1 4392511 4403778 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545148,nsv545147,nsv545146 M 17421 3 0 "" nsv5984150 1 4392512 4392626 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525305 M 405 0 1 "" nsv5612355 1 4392524 4392524 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065363 M 35 1 0 "" HG00731 nsv6049145 1 4392524 4392524 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530474 M 405 1 0 "" nsv4433134 1 4392531 4392987 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15749809 M 15 0 1 "" MDQ045 dgv61n54 1 4392613 4393442 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545152,nsv545151,nsv545150 M 17421 0 4 "" nsv6047161 1 4392616 4392616 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526385 M 405 1 0 "" nsv545153 1 4392718 4393442 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708925 M 17421 1 0 "" nsv3325072 1 4392742 4392742 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490826 M 14 1 0 "" HX1 nsv3323941 1 4392742 4392828 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491461,nssv14477973,nssv14484538,nssv14480964 M 14 0 4 "" HG00514,HG02059,HG04217,NA19434 nsv5580416 1 4392785 4392987 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065364 M 35 0 1 "" HG00512 nsv3324667 1 4392862 4392978 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489959 M 14 0 1 "" HG04217 nsv5609739 1 4392873 4392873 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065365 M 35 1 0 "" HG00732 dgv62n54 1 4392874 4393442 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545155,nsv545154 M 17421 0 8 "" nsv6051403 1 4392907 4392907 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533986 M 405 1 0 "" nsv5984107 1 4392939 4393046 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530760 M 405 0 1 "" nsv3323942 1 4392961 4393076 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482707,nssv14473435,nssv14488318,nssv14475815 M 14 0 4 "" HG00514,HG02059,HG04217,NA19434 nsv6050369 1 4393052 4393052 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518033 M 405 1 0 "" nsv3947091 1 4393076 4393076 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190182 M 1 1 0 "" HG002 nsv6041322 1 4393130 4393130 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537181 M 405 1 0 "" nsv6050370 1 4393251 4393251 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530683 M 405 1 0 "" nsv5607210 1 4393269 4393269 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065367 M 35 1 0 "" HG02492 nsv4762200 1 4393299 4393299 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16269663 M 25 1 0 "" nsv6053775 1 4393330 4393330 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536412 M 405 1 0 "" nsv6046907 1 4393473 4393473 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522926 M 405 1 0 "" nsv3325073 1 4393619 4393619 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474478,nssv14479758,nssv14475390,nssv14478732 M 14 4 0 "" HG00514,HG02059,HG04217,NA19434 nsv5621226 1 4393635 4393635 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065368 M 35 1 0 "" HG00512 nsv3942540 1 4393639 4393639 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190183 M 1 1 0 "" HG002 nsv6049543 1 4393639 4393639 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523645 M 405 1 0 "" esv2505018 1 4396293 4397001 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5228093 M 1 1 0 "" NA18507 nsv2802130 1 4396559 4396559 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677681 M 2 1 0 "" nsv3323943 1 4396559 4396559 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485719,nssv14487978,nssv14480572,nssv14486863,nssv14484476,nssv14486506,nssv14487732,nssv14482581,nssv14477542,nssv14472918,nssv14474329,nssv14479977,nssv14476603 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3561830 1 4396560 4396560 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14290071,nssv14290070 M 9 2 0 "" HG00731,NA19239 esv3667781 1 4396561 4396561 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490207 M 20 1 0 "" nsv3945302 1 4396561 4396561 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190204 M 1 1 0 "" HG002 nsv4444378 1 4396561 4396561 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759599 M 1 1 0 "" nsv5611444 1 4396561 4396561 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065372 M 35 1 0 "" HG00731 nsv5954475 1 4396561 4396561 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17372477 M 914 1 0 "" nsv6048725 1 4396561 4396561 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533181 M 405 1 0 "" nsv2801232 1 4396562 4396562 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678079 M 2 1 0 "" nsv3541240 1 4396568 4396568 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387776,nssv14440022,nssv14413093 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3056178 1 4396569 4396569 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14018105 M 2 1 0 "" NA12878 nsv4757725 1 4396570 4396570 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16260155 M 25 1 0 "" esv1619694 1 4396588 4396588 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3918928 M 2 1 0 "" HuRef nsv3058865 1 4396589 4396589 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021125 M 2 1 0 "" CHM1 nsv6055682 1 4396623 4396623 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533071 M 405 1 0 "" nsv6319153 1 4398299 4399556 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061347 M 19652 0 1 "" nsv3199051 1 4402111 4404060 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14288255,nssv14288259,nssv14288258,nssv14288260,nssv14288253,nssv14288257,nssv14288252,nssv14288256,nssv14288254 M 9 0 9 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4745714 1 4403537 4403619 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273317 M 25 0 1 "" nsv5576666 1 4403565 4403647 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065927 M 35 0 1 "" HG00732 nsv5879115 1 4403565 4403647 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387620 M 914 0 1 "" nsv3928406 1 4403565 4403648 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180676 M 1 0 1 "" HG002 nsv4448878 1 4403565 4403648 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15764051 M 1 0 1 "" nsv5984568 1 4403565 4403648 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526756 M 405 0 1 "" esv3677401 1 4403565 4403649 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16498865 M 20 0 1 "" nsv545156 1 4403573 4403670 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708935,nssv708934 M 17421 0 2 "" nsv1140744 1 4403583 4403693 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3992251 M 2 0 1 "" KWS1 nsv5431845 1 4404330 4404667 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906070 M 3202 0 1 "" esv3585068 1 4410747 4419657 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844984 M 2504 0 1 "" HG01670 nsv5423925 1 4411046 4419653 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906071 M 3202 0 1 "" nsv5875713 1 4412033 4412320 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17371562 M 914 0 1 "" nsv5425266 1 4412918 4413023 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906072 M 3202 1 0 "" nsv5423106 1 4417692 4419653 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683897 M 3202 0 1 "" esv3585069 1 4418628 4430107 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844985 M 2504 0 1 "" HG00384 nsv5420299 1 4418852 4430002 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906074 M 3202 0 1 "" esv275066 1 4421060 4424115 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585519 M 1250 0 1 "" dgv29e59 1 4428892 4430090 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3368163,esv3376842 M 185 2 0 "" NA19239,NA19240 nsv5868273 1 4429509 4429632 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382118 M 914 0 1 "" nsv4047895 1 4435738 4436349 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853228 M 10847 0 1 "" esv3565203 1 4436028 4436353 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9763950 M 767 0 1 "" nsv5572526 1 4436050 4436344 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065935 M 35 0 1 "" HG00096 nsv5881522 1 4436053 4436347 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386171 M 914 0 1 "" nsv5416440 1 4436053 4436349 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906075 M 3202 0 1 "" nsv6318925 1 4436053 4436349 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061364 M 19652 0 1 "" esv2672854 1 4436053 4436357 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6139564,essv6465373,essv6000199 M 1151 0 3 "" HG00123,HG00257,HG01375 nsv4039568 1 4436053 4436676 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853797 M 10847 0 1 "" dgv68n152 1 4441426 4441480 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3182401,nsv3190122 M 9 0 0 "" HG00514,NA19240 nsv4738107 1 4441428 4441483 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16283672 M 25 0 1 "" nsv3323947 1 4441431 4441480 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481095,nssv14472211,nssv14474458,nssv14479672 M 14 0 4 "" HG00514,HG02059,HG02818,NA19240 nsv5568647 1 4441452 4441501 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065937 M 35 0 1 "" HG00731 nsv5872014 1 4441452 4441501 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381480 M 914 0 1 "" nsv5984569 1 4441453 4441507 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517899 M 405 0 1 "" nsv4052062 1 4441792 4442116 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853807 M 10847 0 1 "" nsv5415439 1 4441792 4442116 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906076 M 3202 0 1 "" nsv4041995 1 4447448 4447630 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853814 M 10847 0 1 "" nsv830759 1 4447581 4669361 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442040,nssv1442051 M 95 0 2 LOC284661 nsv4461916 1 4452549 4452550 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024192 M 10847 1 0 "" nsv1008790 1 4453160 4464442 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482262 M 11257 1 0 "" esv3893878 1 4468747 4496256 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25797727 M 3017 0 1 LOC284661 nsv4044917 1 4471291 4471382 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853823 M 10847 0 1 "" nsv5415115 1 4471312 4471382 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906077 M 3202 0 1 "" nsv5867811 1 4471746 4472394 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385288 M 914 0 1 LOC284661 nsv4051183 1 4471748 4472395 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853832 M 10847 0 1 LOC284661 nsv4038774 1 4474400 4475532 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853842 M 10847 0 1 LOC284661 esv2213507 1 4480157 4480574 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4764956 M 1 0 1 LOC284661 NA18507 nsv5576184 1 4480331 4480394 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065791 M 35 0 1 LOC284661 HG00732 nsv4038730 1 4480332 4481040 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853851 M 10847 0 1 LOC284661 nsv4448879 1 4480333 4480387 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15764592 M 1 0 1 LOC284661 nsv3936431 1 4480335 4480393 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180705 M 1 0 1 LOC284661 HG002 nsv4734784 1 4480337 4480414 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260295 M 25 0 1 LOC284661 dgv1n137 1 4480339 4480416 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nsv2801961,nsv2801962 M 2 0 2 LOC284661 nsv3324377 1 4480340 4480395 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490428,nssv14472204,nssv14487921,nssv14475828,nssv14487612,nssv14487454,nssv14481944,nssv14475303,nssv14490745,nssv14488367,nssv14488492,nssv14474688,nssv14490967 M 14 0 13 LOC284661 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19240,NA19434 dgv69n152 1 4480340 4480401 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3279866,nsv3280763 M 9 0 2 LOC284661 HG00733,NA19240 dgv70n152 1 4480340 4480417 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3202587,nsv3282297 M 9 0 2 LOC284661 HG00512,HG00514 nsv3050388 1 4480345 4480410 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14021322 M 2 0 1 LOC284661 NA12878 esv1543124 1 4480354 4480416 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4354508 M 2 0 1 LOC284661 HuRef nsv4041459 1 4480354 4480417 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853862 M 10847 0 1 LOC284661 nsv5984112 1 4480355 4480431 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530965 M 405 0 1 LOC284661 nsv5570355 1 4486111 4486177 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065793 M 35 0 1 "" HG00864 nsv4433135 1 4487001 4489000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15753100 M 15 1 0 "" MDQ010 nsv5575207 1 4488122 4488221 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065794 M 35 0 1 "" HG00512 nsv5878436 1 4488122 4488221 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380971 M 914 0 1 "" esv2672972 1 4488122 4488222 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5837934,essv5685157,essv5978506,essv6043739,essv5714456,essv6116106,essv6538357,essv5592587,essv5769901,essv5614695,essv6054418,essv6573552 M 1151 0 12 "" HG00419,HG00500,HG00614,HG00701,NA18546,NA18611,NA18622,NA18947,NA18949,NA18951,NA18956,NA19385 nsv5984157 1 4488122 4488222 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531853 M 405 0 1 "" nsv3324673 1 4488124 4488223 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485843,nssv14491957 M 14 0 2 "" HG00514,HG01352 dgv71n152 1 4488127 4488227 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3525426,nsv3280058 M 9 0 2 "" HG00512,HG00514 nsv4739037 1 4488127 4488227 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16288169 M 25 0 1 "" nsv5432024 1 4488147 4488222 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906091 M 3202 0 1 "" nsv4516863 1 4488147 4488363 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853870 M 10847 0 1 "" nsv4036293 1 4489585 4491478 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853876 M 10847 0 1 "" nsv5869917 1 4495244 4500165 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17378464 M 914 1 0 "" nsv6553087 1 4497543 4497996 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251837 M 19652 0 0 "" nsv4461513 1 4498021 4498022 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024200 M 10847 1 0 "" nsv6325772 1 4507179 4510429 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061395 M 19652 0 1 "" nsv4046640 1 4509221 4513165 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853893 M 10847 0 1 "" nsv4461753 1 4516532 4516533 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022173 M 10847 1 0 "" esv3688558 1 4517612 4517612 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472780 M 20 1 0 "" nsv545157 1 4523357 4552802 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708936 M 17421 1 0 "" dgv4e214 1 4525729 4531357 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585071,esv3585070 M 2504 0 2 "" HG02505,HG02554 nsv5425535 1 4525745 4531360 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906102 M 3202 0 1 "" nsv6319897 1 4525745 4531361 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061400 M 19652 0 1 "" nsv4037847 1 4525745 4531362 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853903 M 10847 0 1 "" esv3688628 1 4526020 4526020 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472842 M 20 1 0 "" esv3585072 1 4526142 4531352 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9844991,essv9844990,essv9844992 M 2504 3 0 "" HG01396,HG02006,NA19451 nsv5579035 1 4531098 4531217 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065804 M 35 0 1 "" NA19239 nsv5881383 1 4531098 4531217 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385020 M 914 0 1 "" dgv72n152 1 4531098 4531247 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3281118,nsv3526814 M 9 0 2 "" NA19239,NA19240 esv2661002 1 4531112 4531246 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5966210,essv6134925,essv5772876 M 1151 0 3 "" HG01350,NA19403,NA19428 nsv3323958 1 4531128 4531247 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480514,nssv14488731 M 14 0 2 "" HG01352,NA19240 nsv4047998 1 4531141 4531204 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853914 M 10847 0 1 "" nsv5408006 1 4532042 4532042 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906113 M 3202 1 0 "" nsv5617563 1 4532042 4532042 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065805 M 35 1 0 "" NA19239 nsv5960832 1 4532042 4532042 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17374495 M 914 1 0 "" nsv4536999 1 4532042 4532043 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022182 M 10847 1 0 "" esv3310012 1 4532053 4532054 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7837087,essv7837624 M 185 2 0 "" NA19239,NA19240 esv3436839 1 4532055 4532081 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674025 M 185 1 0 "" NA19239 nsv3561665 1 4532056 4532056 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14290638 M 9 1 0 "" NA19239 nsv5674359 1 4532056 4532056 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17192789,nssv17203581 M 3202 2 0 "" nsv5884235 1 4540963 4542130 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374173 M 914 0 1 "" nsv4433136 1 4555001 4557000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15752347 M 15 1 0 "" MDQ010 nsv472740 1 4557950 4557950 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018924 M 9 1 0 "" NA18555 nsv5432092 1 4559059 4559137 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906135 M 3202 0 1 "" nsv5830329 1 4560134 4564887 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465937 M 914 0 0 "" nsv4033141 1 4560137 4564954 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850881 M 10847 0 1 "" nsv5870518 1 4560145 4564953 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17378571 M 914 0 1 "" nsv5431405 1 4560148 4564954 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906146 M 3202 0 1 "" nsv6332888 1 4560148 4564954 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061427 M 19652 0 1 "" esv3585074 1 4561018 4564867 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845055 M 2504 0 1 "" NA18975 nsv4048084 1 4565157 4568907 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850889 M 10847 0 1 "" nsv6325364 1 4565157 4568907 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061430 M 19652 0 1 "" nsv5963921 1 4568635 4568635 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17380882 M 914 1 0 "" nsv6056715 1 4568961 4568961 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534323 M 405 1 0 "" esv3672146 1 4568977 4568978 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494135 M 20 0 0 "" nsv3940811 1 4568992 4568992 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190256 M 1 1 0 "" HG002 nsv4444379 1 4568992 4568992 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766246 M 1 1 0 "" nsv5612901 1 4568992 4568992 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065829 M 35 1 0 "" NA24385 nsv5724182 1 4568992 4568992 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17247833 M 3202 1 0 "" nsv5886878 1 4571935 4572628 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17379279 M 914 0 1 "" nsv460394 1 4573989 4592116 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536980 M 1557 0 1 "" HGDP01098 nsv4040606 1 4574827 4574926 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964054 M 10847 1 0 "" nsv6048233 1 4575222 4575222 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522806 M 405 1 0 "" nsv4049916 1 4580580 4580740 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850898 M 10847 0 1 "" nsv4049774 1 4580614 4580896 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850907 M 10847 0 1 "" nsv4044549 1 4580659 4580783 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850917 M 10847 0 1 "" nsv1150138 1 4580748 4580914 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003434 M 1 0 1 "" KWB1 nsv6044171 1 4580783 4580783 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535617 M 405 1 0 "" esv3565314 1 4580812 4580909 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9764061 M 767 0 1 "" esv3688765 1 4580825 4580825 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16472966 M 20 1 0 "" nsv3203869 1 4580830 4580927 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14293172,nssv14293171,nssv14293170 M 9 0 3 "" HG00512,HG00513,HG00514 nsv5566730 1 4580833 4580976 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065832 M 35 0 1 "" HG03125 esv2671580 1 4580844 4581049 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6521795,essv5710584,essv5407184,essv5590938,essv5859093,essv6587502,essv6104316,essv5930263,essv5501578,essv6037263,essv6374513,essv5972701,essv6368850,essv5521901,essv6099990,essv6257927,essv6482185,essv5976681,essv6569382,essv6062337,essv6299431,essv5874860,essv5533759,essv5764373,essv6002759,essv6366529,essv6096784,essv5483632,essv5562243,essv6231661,essv5720705,essv6266311,essv5661666,essv6246274,essv5638302,essv6229009,essv5922543,essv6208030,essv6363560,essv5865402,essv5422846,essv5666271,essv5731698,essv5403681,essv5862798,essv5992912,essv6538900 M 1151 0 47 "" HG00111,HG00237,HG00252,HG00254,HG00257,HG00271,HG00275,HG00276,HG00277,HG00281,HG00282,HG00284,HG00310,HG00313,HG00318,HG00319,HG00323,HG00328,HG00329,HG00334,HG00335,HG00337,HG00339,HG00343,HG00478,HG00534,HG00584,HG00619,HG01051,HG01066,HG01072,HG01107,HG01108,HG01174,HG01187,HG01334,HG01374,HG01440,NA18520,NA18534,NA18537,NA18599,NA18605,NA19379,NA19381,NA19394,NA20513 nsv5984164 1 4580846 4580989 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527484 M 405 0 1 "" nsv1124176 1 4580900 4581064 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975484 M 2 0 1 "" KWS1 nsv1075993 1 4580916 4581177 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766771 M 1 0 1 "" KWP1 nsv3323961 1 4582956 4583021 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478655 M 14 0 1 "" NA12878 nsv3324681 1 4583225 4583225 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483695 M 14 1 0 "" HG01352 nsv6325098 1 4587461 4589260 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061444 M 19652 0 1 "" esv1006796 1 4596030 4602089 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586737 M 3 0 1 "" HuRef esv21437 1 4597917 4603368 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13444 M 40 0 1 "" NA18861 esv3688839 1 4597961 4597961 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473032 M 20 1 0 "" esv3679034 1 4599930 4599989 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16500334 M 20 0 0 "" esv2469165 1 4603290 4604366 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5375102 M 1 1 0 "" NA18507 esv3667889 1 4603729 4603729 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490303 M 20 1 0 "" nsv5620437 1 4603739 4603739 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065839 M 35 1 0 "" HG00731 nsv6055507 1 4603739 4603739 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519262 M 405 1 0 "" nsv4534303 1 4603741 4603742 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022193 M 10847 1 0 "" nsv3051717 1 4603742 4603742 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14016684 M 2 1 0 "" NA12878 nsv4762125 1 4603743 4603743 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16276618 M 25 1 0 "" esv995887 1 4603762 4603762 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3569284 M 3 1 0 "" HuRef nsv2801874 1 4603762 4603762 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682014 M 2 1 0 "" nsv3324684 1 4603762 4603762 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472681,nssv14472557,nssv14478116,nssv14483223,nssv14491656,nssv14487441,nssv14479745,nssv14474063,nssv14477925,nssv14483613,nssv14488498 M 14 11 0 "" CHM13,HG00268,HG00514,HG00733,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3925991 1 4603762 4603762 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190272 M 1 1 0 "" HG002 nsv5545515 1 4603762 4603762 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906157 M 3202 1 0 "" nsv3539947 1 4603763 4603763 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413095,nssv14389482,nssv14440023 M 9 3 0 "" HG00514,HG00733,NA19240 nsv4444428 1 4603763 4603763 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15760839 M 1 1 0 "" nsv5960815 1 4603763 4603763 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17373506 M 914 1 0 "" esv1262838 1 4603782 4603782 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3924372 M 2 1 0 "" HuRef nsv5417201 1 4608186 4608536 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906166 M 3202 0 1 "" nsv4048857 1 4611903 4617444 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850927 M 10847 0 1 "" nsv1076952 1 4635965 4636019 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770348 M 1 0 1 "" KWP1 nsv5949691 1 4643102 4643102 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17381384 M 914 1 0 "" nsv4461520 1 4653582 4653583 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022204 M 10847 1 0 "" nsv5688637 1 4653593 4653593 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193947 M 3202 1 0 "" nsv5405392 1 4653593 4653644 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906169 M 3202 1 0 "" esv3689015 1 4656770 4656770 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473191 M 20 1 0 "" nsv4461762 1 4658275 4658276 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022213 M 10847 1 0 "" nsv5422438 1 4660229 4660290 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906170 M 3202 1 0 "" nsv5424471 1 4661550 4662679 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906171 M 3202 0 1 "" nsv5679373 1 4666362 4666362 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17194194 M 3202 1 0 "" nsv6257511 1 4666362 4666362 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17840730 M 1021 1 0 "" nsv5409639 1 4666362 4666413 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906172 M 3202 1 0 "" nsv953824 1 4673301 4678700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000140 M 1 0 1 "" BILGI_BIOE nsv4036194 1 4676177 4676644 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850953 M 10847 0 1 "" esv2398993 1 4676313 4676822 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4895725 M 1 0 1 "" NA18507 nsv3324689 1 4676484 4676628 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472843,nssv14486514 M 14 0 2 "" HG00514,HG02059 nsv4743095 1 4676484 4676632 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260265 M 25 0 1 "" dgv73n152 1 4676489 4676642 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3281070,nsv3526273 M 9 0 6 "" HG00512,HG00513,HG00514,HG00731,NA19239,NA19240 nsv5569719 1 4676496 4676640 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065511 M 35 0 1 "" HG00731 nsv5984583 1 4676496 4676641 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524615 M 405 0 1 "" esv3565425 1 4676496 4676645 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9764172 M 767 0 1 "" nsv1072050 1 4676496 4676658 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764718 M 1 0 1 "" KWP1 nsv5868959 1 4676497 4676641 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373519 M 914 0 1 "" esv2658197 1 4676497 4676644 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6549251,essv5768132,essv5917912,essv6587508,essv6210893,essv6194615,essv5743042,essv6004021,essv5912276,essv5491259,essv6477773,essv5990605,essv5849873,essv5679766,essv5625990,essv5532520,essv5628346,essv5434110,essv6418000,essv6200790,essv5586772,essv5492548,essv5935035,essv6551957,essv6279379,essv5737114,essv6300955,essv5621909,essv5545152,essv6495919,essv5821408,essv5718450,essv5445628,essv5624213,essv5640486,essv5833924,essv5934882,essv5628805,essv5996438,essv5407800,essv5549301,essv6307983,essv5869103,essv6039205,essv5909082,essv6401699,essv6111236,essv5935021,essv5999686,essv5595406,essv6130018,essv5790060,essv6129356,essv6235618,essv6412559,essv6410115,essv5991829,essv6303440,essv5636975,essv5590110,essv5451670,essv6551775,essv5488638,essv6064479,essv5764573,essv6201371,essv6220185,essv6024062,essv6005288,essv6313667,essv6494304,essv6288614,essv5446984,essv5669835,essv6462347,essv5817691,essv6011694,essv6520463,essv5412484,essv5651641,essv6149495,essv6469110,essv6510967,essv6165117,essv6133000,essv6465232,essv6452512,essv6185984,essv5690322,essv6469647,essv5628898,essv5796451,essv6561280,essv6578430,essv5504528,essv5948491,essv5490017,essv6492515,essv5434102,essv6462194,essv5700422,essv6440247,essv6169913,essv5881960,essv6524956,essv6352455,essv5525380,essv6029957,essv6351731,essv5407868,essv5858536,essv5812387,essv6485722,essv6167600,essv6325599,essv5565994,essv5656641,essv6570959,essv6323215,essv6147526,essv6198829,essv6536116,essv6420799,essv5895546,essv5666262,essv6160512,essv5823142,essv5488930,essv5692595,essv5531218,essv6514653,essv6522193,essv5690863,essv5970293,essv5906173,essv6003061,essv5494920,essv6256947,essv6127008,essv5923630,essv5911545,essv5867660,essv6150504,essv6177835,essv6261916,essv5773359,essv5755317,essv5455064,essv6058464,essv6589744,essv5708378,essv6013490,essv6362493,essv6099242,essv5466375,essv6580955,essv5991881,essv6088752,essv6320726,essv6045522,essv5588715,essv6170218,essv5434435,essv6106046,essv6326323,essv6386889,essv6157654,essv5669101,essv6360320,essv5956711,essv6156671,essv5918827,essv6396763,essv5772039,essv6035492,essv5852026,essv6276284,essv5680392,essv6103413,essv6187654,essv5738365,essv6082959 M 1151 0 182 "" HG00114,HG00125,HG00136,HG00375,HG00421,HG00437,HG00442,HG00473,HG00475,HG00478,HG00512,HG00513,HG00524,HG00530,HG00534,HG00536,HG00583,HG00607,HG00608,HG00611,HG00614,HG00619,HG00620,HG00628,HG00637,HG00657,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00699,HG00705,HG00731,HG01066,HG01073,HG01083,HG01097,HG01171,HG01177,HG01354,HG01440,NA07051,NA12546,NA12889,NA12891,NA18486,NA18487,NA18488,NA18511,NA18517,NA18523,NA18526,NA18530,NA18532,NA18538,NA18541,NA18544,NA18545,NA18546,NA18547,NA18549,NA18552,NA18553,NA18559,NA18561,NA18563,NA18566,NA18571,NA18572,NA18573,NA18595,NA18596,NA18605,NA18610,NA18612,NA18613,NA18616,NA18620,NA18624,NA18628,NA18631,NA18632,NA18633,NA18637,NA18638,NA18867,NA18870,NA18874,NA18912,NA18933,NA18941,NA18944,NA18949,NA18951,NA18952,NA18953,NA18960,NA18961,NA18963,NA18968,NA18974,NA18977,NA18980,NA18985,NA18989,NA18991,NA19000,NA19002,NA19004,NA19007,NA19054,NA19055,NA19057,NA19065,NA19066,NA19068,NA19070,NA19077,NA19080,NA19082,NA19084,NA19085,NA19087,NA19088,NA19102,NA19107,NA19108,NA19116,NA19147,NA19189,NA19198,NA19207,NA19210,NA19213,NA19239,NA19240,NA19312,NA19315,NA19318,NA19319,NA19324,NA19331,NA19334,NA19346,NA19347,NA19359,NA19374,NA19375,NA19379,NA19380,NA19381,NA19382,NA19383,NA19391,NA19428,NA19431,NA19434,NA19439,NA19453,NA19455,NA19462,NA19471,NA19473,NA19625,NA19712,NA19722,NA19818,NA19834,NA19982,NA19985,NA20278,NA20282,NA20287,NA20502,NA20505,NA20528,NA20544,NA20581,NA20819 nsv5419643 1 4676497 4676644 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906173 M 3202 0 1 "" nsv6321964 1 4676497 4676644 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061134 M 19652 0 1 "" esv2988766 1 4676509 4676644 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7258333 M 1 0 1 "" HuRef nsv4461765 1 4679309 4679310 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022221 M 10847 1 0 "" nsv6547781 1 4680152 4681476 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251128 M 19652 0 0 "" nsv6328637 1 4682713 4683927 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201380 M 19652 1 0 "" nsv4045340 1 4692590 4693241 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964062 M 10847 1 0 "" nsv6322794 1 4692600 4693415 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201383 M 19652 1 0 "" nsv4762260 1 4692610 4692610 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16263728 M 25 1 0 "" nsv4740582 1 4692610 4693220 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16287011 M 25 1 0 "" esv3677741 1 4692620 4693346 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499171 M 20 0 1 "" nsv5605760 1 4692628 4692628 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065519 M 35 1 0 "" HG00512 nsv5881393 1 4692634 4692710 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372549 M 914 0 1 "" nsv5984258 1 4692634 4692711 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533592 M 405 0 1 "" nsv6048400 1 4692682 4692682 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517895 M 405 1 0 "" nsv3323967 1 4692690 4692690 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488153 M 14 1 0 "" HX1 nsv5607500 1 4692690 4692690 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065520 M 35 1 0 "" NA19239 nsv5984259 1 4692699 4692782 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534541 M 405 0 1 "" nsv6044420 1 4692721 4692721 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535472 M 405 1 0 "" nsv5564900 1 4692808 4693021 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065521 M 35 0 1 "" NA24385 nsv5605401 1 4692809 4692809 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065522 M 35 1 0 "" HG03683 nsv3325090 1 4692865 4693043 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491144,nssv14475477,nssv14472577,nssv14472184,nssv14490468 M 14 0 5 "" CHM1,HG00268,HG02106,HG04217,HX1 nsv6047094 1 4692866 4692866 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530684 M 405 1 0 "" nsv2801879 1 4692896 4693214 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13686882 M 2 0 1 "" nsv3531965 1 4692901 4692901 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377646 M 9 1 0 "" NA19240 nsv6040555 1 4692905 4692905 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526621 M 405 1 0 "" nsv3539274 1 4692906 4692906 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440024 M 9 1 0 "" HG00733 nsv5984260 1 4692913 4693052 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521954 M 405 0 1 "" nsv5621668 1 4692929 4692929 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065523 M 35 1 0 "" HG03125 nsv6044848 1 4692985 4692985 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520279 M 405 1 0 "" nsv3540098 1 4692990 4692990 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413096 M 9 1 0 "" HG00514 nsv5427240 1 4692990 4693311 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906188 M 3202 0 1 "" nsv2801880 1 4693000 4693000 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692598 M 2 1 0 "" nsv3324692 1 4693000 4693000 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490850,nssv14486554,nssv14484423,nssv14476832,nssv14474694,nssv14477553 M 14 6 0 "" CHM13,HG00733,HG01352,HG02818,NA19240,NA19434 nsv3203952 1 4693019 4693325 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14294915 M 9 0 1 "" HG00512 nsv5611809 1 4693022 4693022 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065525 M 35 1 0 "" HG00731 nsv3056181 1 4693025 4693025 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14027865 M 2 1 0 "" NA12878 nsv5582419 1 4693037 4693113 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065526 M 35 0 1 "" NA12329 nsv3323968 1 4693065 4693065 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491844 M 14 1 0 "" HG00514 nsv6050408 1 4693066 4693066 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522885 M 405 1 0 "" nsv5984173 1 4693070 4693131 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536362 M 405 0 1 "" nsv3323969 1 4693075 4693214 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481498 M 14 0 1 "" CHM1 nsv5609140 1 4693115 4693115 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065527 M 35 1 0 "" HG03125 nsv5984261 1 4693120 4693204 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521753 M 405 0 1 "" nsv4449167 1 4693199 4693500 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15765740 M 1 0 1 "" nsv3324392 1 4693256 4693256 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478606 M 14 1 0 "" HG02059 nsv3324393 1 4693264 4693345 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477754 M 14 0 1 "" HG04217 nsv5984174 1 4693314 4693384 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529036 M 405 0 1 "" nsv5624338 1 4693325 4693325 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065528 M 35 1 0 "" HG03065 nsv6051581 1 4693327 4693327 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519466 M 405 1 0 "" nsv3204084 1 4693374 4693486 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14293716 M 9 0 1 "" NA19239 nsv6056169 1 4693402 4693402 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529328 M 405 1 0 "" nsv3926806 1 4693402 4693457 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180738 M 1 0 1 "" HG002 nsv5567955 1 4693402 4693457 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065529 M 35 0 1 "" NA24385 nsv5984175 1 4693402 4693464 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525789 M 405 0 1 "" nsv5880366 1 4693408 4693463 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372810 M 914 0 1 "" nsv5624024 1 4693416 4693416 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065530 M 35 1 0 "" HG03125 nsv5611821 1 4693486 4693486 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065531 M 35 1 0 "" HG00512 nsv5548233 1 4699488 4699534 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906206 M 3202 1 0 "" nsv4047286 1 4703511 4704517 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850972 M 10847 0 1 "" esv3677802 1 4704402 4704517 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499226 M 20 0 1 "" nsv545158 1 4704955 4727086 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708937 M 17421 0 1 AJAP1 esv3330361 1 4706892 4709190 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692349 M 185 1 0 "" NA19240 nsv1110990 1 4709240 4709332 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961419 M 2 1 0 "" KWS1 nsv4754641 1 4709720 4709720 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16266850 M 25 1 0 "" nsv6047846 1 4709724 4709724 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536152 M 405 1 0 "" nsv5606246 1 4709780 4709780 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065535 M 35 1 0 "" NA20847 nsv5430964 1 4709781 4714212 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906207 M 3202 0 1 "" esv3585075 1 4709787 4714215 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845056 M 2504 0 1 "" HG04161 nsv825475 1 4713119 4717435 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1433404 M 31 1 0 AJAP1 NA18526 nsv1076000 1 4713199 4716100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764200 M 1 0 1 AJAP1 KWP1 nsv1136063 1 4714200 4717900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989669 M 2 0 1 AJAP1 KWS2 nsv1126171 1 4714300 4716100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984400 M 2 0 1 AJAP1 KWS1 nsv5610668 1 4726114 4726114 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065377 M 35 1 0 AJAP1 HG00732 nsv2801967 1 4726115 4726115 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694075 M 2 1 0 AJAP1 nsv3325092 1 4726115 4726115 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477721 M 14 1 0 AJAP1 CHM13 nsv3184468 1 4726144 4726195 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440025 M 9 0 0 AJAP1 HG00733 esv3679858 1 4726679 4726857 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16501077 M 20 0 0 AJAP1 nsv5624507 1 4726767 4726767 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065378 M 35 1 0 AJAP1 NA19239 esv1009421 1 4734774 4738126 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565733 M 3 0 1 AJAP1 HuRef nsv460505 1 4737531 4754057 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537066 M 1557 0 1 AJAP1 1780862093_A nsv545159 1 4737531 4754057 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1172594 M 17421 0 1 AJAP1 1780862093_A nsv3117352 1 4738016 4740842 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14107438,nssv14091187 M 467 0 2 AJAP1 sample104,sample273 nsv5615910 1 4742741 4742741 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065948 M 35 1 0 AJAP1 NA19238 nsv4762851 1 4742782 4742782 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16287169 M 25 1 0 AJAP1 nsv6058268 1 4742805 4742805 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517547 M 405 1 0 AJAP1 nsv5867786 1 4742820 4742891 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381779 M 914 0 1 AJAP1 nsv3324401 1 4742893 4742893 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473685 M 14 1 0 AJAP1 HG02059 nsv6332015 1 4743230 4746845 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061582 M 19652 0 1 AJAP1 nsv520031 1 4747737 4751030 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv660165,nssv683157,nssv701964 M 2026 0 3 AJAP1 nsv521535 1 4747737 4772717 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694458 M 2026 0 1 AJAP1 nsv953834 1 4749601 4786100 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000251 M 1 0 1 AJAP1 BILGI_BIOE nsv460617 1 4751030 4787119 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537158 M 1557 0 1 AJAP1 NINDS_66 nsv545160 1 4751030 4787119 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173647 M 17421 0 1 AJAP1 NINDS_66 nsv5537669 1 4751313 4751363 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906212 M 3202 1 0 AJAP1 nsv5430465 1 4758312 4758380 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906223 M 3202 1 0 AJAP1 nsv6332126 1 4761136 4908394 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201390 M 19652 1 0 AJAP1 nsv5875099 1 4762106 4762238 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376401 M 914 0 1 AJAP1 nsv4047048 1 4762135 4762241 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850981 M 10847 0 1 AJAP1 nsv5417487 1 4762154 4762241 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906231 M 3202 0 1 AJAP1 nsv5610084 1 4770962 4770962 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065965 M 35 1 0 AJAP1 HG03065 nsv4036546 1 4771128 4771294 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851372 M 10847 0 1 AJAP1 nsv4041074 1 4773021 4773108 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851380 M 10847 0 1 AJAP1 nsv6537510 1 4788877 4973763 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251152 M 19652 0 0 AJAP1 nsv830870 1 4795386 4981299 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442062 M 95 0 1 AJAP1 nsv4036661 1 4796066 4796159 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851390 M 10847 0 1 AJAP1 esv2651800 1 4800146 4801190 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5191133 M 1 1 0 AJAP1 NA18507 nsv3935025 1 4800429 4800429 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190296 M 1 1 0 AJAP1 HG002 nsv4444429 1 4800429 4800429 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15760124 M 1 1 0 AJAP1 nsv5619375 1 4800429 4800429 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065973 M 35 1 0 AJAP1 HG00731 nsv5962947 1 4800429 4800429 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17372432 M 914 1 0 AJAP1 nsv6055691 1 4800429 4800429 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529699 M 405 1 0 AJAP1 nsv2801242 1 4800430 4800430 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13701306 M 2 1 0 AJAP1 nsv3323974 1 4800430 4800430 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475559,nssv14478548,nssv14479240,nssv14484876,nssv14480551,nssv14483421,nssv14481551,nssv14491257,nssv14475368,nssv14473107,nssv14473527,nssv14489622,nssv14489081,nssv14490662 M 14 14 0 AJAP1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3541792 1 4800431 4800431 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374743,nssv14413097,nssv14440026 M 9 3 0 AJAP1 HG00514,HG00733,NA19240 nsv4750846 1 4800431 4800431 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16287484 M 25 1 0 AJAP1 nsv5548946 1 4800457 4800480 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906232 M 3202 1 0 AJAP1 nsv3204121 1 4807561 4808610 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14292766,nssv14292762,nssv14292768,nssv14292764,nssv14292763,nssv14292761,nssv14292765,nssv14292769,nssv14292767 M 9 0 9 AJAP1 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5424772 1 4811708 4811760 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906233 M 3202 0 1 AJAP1 nsv1076958 1 4813069 4813137 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764565 M 1 0 1 AJAP1 KWP1 nsv5622591 1 4813477 4813477 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065974 M 35 1 0 AJAP1 HG03486 nsv4536285 1 4813477 4813478 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022228 M 10847 1 0 AJAP1 nsv5536912 1 4813477 4813480 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906234 M 3202 1 0 AJAP1 nsv5949049 1 4813478 4813478 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17383866 M 914 1 0 AJAP1 nsv1126969 1 4818502 4818583 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985256 M 2 0 1 AJAP1 KWS1 nsv830981 1 4822265 4998251 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442074 M 95 1 0 AJAP1 esv3585076 1 4823184 4829674 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845057 M 2504 0 1 AJAP1 HG01369 nsv5426042 1 4823270 4829660 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906236 M 3202 0 1 AJAP1 esv3409614 1 4827658 4827704 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740928 M 185 1 0 AJAP1 NA12878 nsv5882575 1 4831712 4831774 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380712 M 914 0 1 AJAP1 nsv5620987 1 4845807 4845807 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065537 M 35 1 0 "" HG01596 nsv4037867 1 4854004 4854113 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851409 M 10847 0 1 "" nsv4045923 1 4864528 4864624 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964080 M 10847 1 0 "" nsv6327300 1 4865517 4866012 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061633 M 19652 0 1 "" nsv6554644 1 4867312 4867475 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251167 M 19652 0 0 "" nsv1076959 1 4871246 4871319 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764294 M 1 0 1 "" KWP1 esv3649034 1 4871247 4871247 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473333 M 20 1 0 "" nsv1113064 1 4871247 4871319 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982102,nssv3990224 M 2 0 2 "" KWS1,KWS2 nsv3057365 1 4871248 4871319 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14033071 M 2 0 1 "" CHM1 nsv521327 1 4872571 4874505 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697933 M 2026 0 1 "" dgv9e199 1 4882138 4883038 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2658527,esv2662806 M 1151 0 6 "" HG00150,HG00251,HG00256,HG00418,NA18990,NA19003 esv3585077 1 4882232 4883040 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845126,essv9845062,essv9845104,essv9845061,essv9845123,essv9845141,essv9845076,essv9845111,essv9845140,essv9845069,essv9845099,essv9845073,essv9845106,essv9845077,essv9845112,essv9845072,essv9845105,essv9845074,essv9845110,essv9845070,essv9845125,essv9845068,essv9845082,essv9845067,essv9845079,essv9845071,essv9845116,essv9845075,essv9845088,essv9845064,essv9845090,essv9845065,essv9845128,essv9845066,essv9845078,essv9845063,essv9845134,essv9845058,essv9845108,essv9845059,essv9845087,essv9845060,essv9845135,essv9845144,essv9845089,essv9845152,essv9845131,essv9845150,essv9845102,essv9845153,essv9845094,essv9845149,essv9845130,essv9845146,essv9845109,essv9845145,essv9845093,essv9845151,essv9845098,essv9845143,essv9845086,essv9845142,essv9845120,essv9845147,essv9845113,essv9845148,essv9845133,essv9845129,essv9845095,essv9845103,essv9845119,essv9845096,essv9845097,essv9845100,essv9845132,essv9845085,essv9845107,essv9845101,essv9845139,essv9845083,essv9845080,essv9845115,essv9845124,essv9845118,essv9845121,essv9845127,essv9845138,essv9845092,essv9845084,essv9845122,essv9845117,essv9845136,essv9845114,essv9845137,essv9845091,essv9845081 M 2504 0 96 "" HG00150,HG00251,HG00256,HG00625,HG01589,HG01773,HG01811,HG02070,HG02190,HG02494,HG02601,HG02651,HG02687,HG02688,HG02734,HG02736,HG02790,HG02792,HG03012,HG03022,HG03488,HG03491,HG03603,HG03640,HG03644,HG03645,HG03646,HG03673,HG03679,HG03680,HG03689,HG03692,HG03706,HG03730,HG03731,HG03744,HG03745,HG03755,HG03757,HG03765,HG03767,HG03771,HG03772,HG03780,HG03789,HG03793,HG03805,HG03808,HG03812,HG03824,HG03851,HG03863,HG03866,HG03870,HG03871,HG03905,HG03908,HG03940,HG03947,HG03953,HG03960,HG03963,HG03967,HG03969,HG03973,HG03977,HG03990,HG03991,HG03995,HG04023,HG04026,HG04039,HG04059,HG04060,HG04096,HG04099,HG04131,HG04141,HG04177,HG04212,HG04216,NA11995,NA18990,NA19003,NA20845,NA20852,NA20882,NA20887,NA20890,NA20894,NA20900,NA20904,NA20905,NA21103,NA21108,NA21144 esv3565759 1 4882345 4883040 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9764506 M 767 0 1 "" nsv5873683 1 4882350 4883035 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17371307 M 914 0 1 "" nsv5430072 1 4882350 4883038 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906237 M 3202 0 1 "" nsv5984181 1 4882350 4883038 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535229 M 405 0 1 "" nsv6331874 1 4882350 4883038 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061280 M 19652 0 1 "" nsv4041201 1 4882391 4883038 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851416 M 10847 0 1 "" nsv4049530 1 4885514 4885575 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851424 M 10847 0 1 "" nsv5623406 1 4895092 4895092 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065548 M 35 1 0 "" HG00732 nsv5966276 1 4895092 4895092 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17375056 M 914 1 0 "" nsv4571503 1 4895093 4895895 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788837 M 10847 0 0 "" nsv4040386 1 4895603 4908562 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964089 M 10847 1 0 "" esv3585078 1 4899296 4900544 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845154 M 2504 0 1 "" HG00766 nsv5423662 1 4899334 4900575 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906239 M 3202 0 1 "" esv3585079 1 4903380 4919300 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845155 M 2504 0 1 "" HG01918 nsv5425200 1 4903466 4919170 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906240 M 3202 0 1 "" nsv6326025 1 4903466 4919170 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061297 M 19652 0 1 "" nsv5979288 1 4907224 4907499 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17371798 M 914 0 0 "" nsv632 1 4909413 4913572 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2960 M 9 1 0 "" NA18555 nsv6324463 1 4910377 4911202 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201414 M 19652 1 0 "" nsv4042342 1 4915986 4941854 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851440 M 10847 0 1 "" nsv5689165 1 4919346 4919346 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17195449 M 3202 1 0 "" nsv6323096 1 4920203 4921183 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061306 M 19652 0 1 "" esv3649098 1 4922853 4922853 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473391 M 20 1 0 "" nsv4461773 1 4933030 4933031 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022239 M 10847 1 0 "" nsv6257995 1 4935291 4935291 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17842004 M 1021 1 0 "" nsv473410 1 4937930 4937930 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018919 M 9 1 0 "" NA19129 nsv4048333 1 4940252 5066546 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851457 M 10847 0 1 "" nsv6315948 1 4941261 4944611 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061313 M 19652 0 1 "" nsv5956180 1 4945637 4945637 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17380605 M 914 1 0 "" nsv5966243 1 4948384 4948384 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17384864 M 914 1 0 "" nsv4049664 1 4962171 4962277 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851468 M 10847 0 1 "" nsv5414859 1 4962171 4962277 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683899 M 3202 0 1 "" nsv4045348 1 4964011 5002506 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964097 M 10847 1 0 "" nsv6334983 1 4964062 5002506 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201420 M 19652 1 0 "" nsv958396 1 4967651 4970598 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003727 M 1 0 1 "" BILGI_BIOE nsv5882012 1 4977902 4981816 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17374784 M 914 1 0 "" nsv6315801 1 4977902 4981817 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201421 M 19652 1 0 "" nsv4046420 1 4977902 4981870 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964107 M 10847 1 0 "" nsv5830226 1 4977935 4981509 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480465 M 914 0 0 "" nsv5684086 1 4983940 4983940 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17196994 M 3202 1 0 "" nsv5433567 1 4993847 4994313 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906243 M 3202 0 1 "" nsv3218674 1 4994077 5009858 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260152,nssv14260159,nssv14260160,nssv14260158,nssv14260154,nssv14260157,nssv14260156,nssv14260155,nssv14260153 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 dgv14n100 1 4997503 5012355 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006916,nsv998217,nsv1006006 M 11257 5 0 "" nsv4570607 1 4997780 4997781 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022260 M 10847 1 0 "" nsv4433137 1 4999001 5000000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15748294,nssv15747738 M 15 2 0 "" BTQ016,MDQ045 esv3310485 1 4999187 5000196 CNV novel sequence insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843542 M 185 1 0 "" NA19240 nsv6328324 1 4999345 4999887 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201422 M 19652 1 0 "" nsv4444430 1 4999449 4999449 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15767096 M 1 1 0 "" nsv5984366 1 4999449 4999778 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17529318 M 405 1 0 "" nsv1110991 1 4999501 4999561 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961420 M 2 1 0 "" KWS1 nsv3532250 1 4999509 4999509 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413098,nssv14440027 M 9 2 0 "" HG00514,HG00733 nsv2801885 1 4999510 4999510 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690105 M 2 1 0 "" nsv3323978 1 4999510 4999510 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483828,nssv14484626,nssv14491837,nssv14484640,nssv14490218,nssv14478936,nssv14483614,nssv14484407,nssv14474690,nssv14490050,nssv14477195 M 14 11 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3538700 1 4999536 4999536 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385925,nssv14413099,nssv14440028 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3949234 1 4999536 4999536 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190298 M 1 1 0 "" HG002 nsv5620990 1 4999536 4999536 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065576 M 35 1 0 "" HG00731 nsv5963771 1 4999536 4999536 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17377348 M 914 1 0 "" nsv2802143 1 4999537 4999537 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682945 M 2 1 0 "" nsv3325099 1 4999537 4999537 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478632,nssv14486483,nssv14480541,nssv14482289,nssv14480871,nssv14484627,nssv14491937,nssv14481936,nssv14475455,nssv14482113,nssv14479222,nssv14484325,nssv14489393,nssv14486919 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3058867 1 4999544 4999544 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032518 M 2 1 0 "" CHM1 nsv6060242 1 4999546 4999546 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526938 M 405 1 0 "" nsv2801886 1 4999547 4999547 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680894 M 2 1 0 "" nsv3051722 1 4999557 4999557 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031286 M 2 1 0 "" NA12878 nsv3530946 1 4999557 4999557 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376181 M 9 1 0 "" NA19240 nsv3196383 1 4999557 4999732 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14294986,nssv14294984,nssv14294981,nssv14294985,nssv14294982,nssv14294983 M 9 6 0 "" HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3328269 1 4999559 4999762 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652090 M 185 1 0 "" NA19240 esv3450010 1 4999657 4999773 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808971 M 185 1 0 "" NA12878 nsv4049389 1 5000531 5004163 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964122 M 10847 1 0 "" nsv5416082 1 5000769 5000892 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906244 M 3202 1 0 "" nsv5874218 1 5002389 5002494 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369956 M 914 0 1 "" esv3382602 1 5006192 5006990 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692354 M 185 1 0 "" NA19239 nsv5880076 1 5006406 5006472 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376247 M 914 0 1 "" nsv4047703 1 5012056 5369598 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964132 M 10847 1 0 "" nsv4461779 1 5014118 5014119 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022269 M 10847 1 0 "" nsv4461780 1 5014227 5014228 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022280 M 10847 1 0 "" nsv4034661 1 5019521 5019862 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851484 M 10847 0 1 "" esv3585080 1 5028066 5056207 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845156 M 2504 0 1 "" NA19473 dgv10e199 1 5028103 5056368 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2674284,esv2659456 M 1151 0 1 "" NA19473 nsv6317839 1 5028127 5056275 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061828 M 19652 0 1 "" nsv4052370 1 5028128 5056280 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851494 M 10847 0 1 "" nsv5413981 1 5028128 5056281 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906245 M 3202 0 1 "" nsv1014919 1 5028204 5055851 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478565 M 11257 0 1 "" esv2764243 1 5028216 5060238 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004915,essv7004916,essv7004914,essv7004913 M 1109 0 4 "" RW_0164,RW_0321,RW_0351,RW_0579 nsv521101 1 5031379 5054350 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv687649,nssv682279 M 2026 0 2 "" nsv474096 1 5038297 5038297 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011788 M 9 1 0 "" NA12156 nsv3209723 1 5038717 5039301 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14296639 M 9 0 1 "" NA19240 nsv478576 1 5040904 5040904 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018520 M 9 1 0 "" NA18507 nsv4537509 1 5047129 5047130 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022290 M 10847 1 0 "" nsv5680063 1 5047145 5047145 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17198227,nssv17203582 M 3202 2 0 "" nsv5402304 1 5047145 5047167 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906263 M 3202 1 0 "" nsv476165 1 5051613 5051613 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012866 M 9 1 0 "" NA12878 esv2483299 1 5053352 5054468 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5225073 M 1 0 1 "" NA18507 nsv6329581 1 5053561 5055060 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060846 M 19652 0 1 "" nsv4035367 1 5055822 5056273 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851504 M 10847 0 1 "" nsv5879331 1 5063272 5063870 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383599 M 914 0 1 "" nsv5423704 1 5063274 5063871 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906273 M 3202 0 1 "" esv3585082 1 5063288 5063889 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845192,essv9845187,essv9845172,essv9845189,essv9845179,essv9845173,essv9845193,essv9845182,essv9845174,essv9845190,essv9845180,essv9845175,essv9845191,essv9845176,essv9845184,essv9845186,essv9845177,essv9845183,essv9845178,essv9845185,essv9845188,essv9845181 M 2504 0 22 "" HG02652,HG02654,HG02737,HG02787,HG03490,HG03600,HG03703,HG03744,HG03817,HG03864,HG03873,HG03886,HG03925,HG03985,HG04059,HG04141,HG04200,NA20863,NA20877,NA20911,NA21112,NA21124 nsv6323753 1 5063430 5063963 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060853 M 19652 0 1 "" nsv525603 1 5068210 5068955 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701747 M 2026 0 1 "" nsv5870155 1 5068470 5068754 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17388131 M 914 0 1 "" nsv4461950 1 5075298 5075299 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022854 M 10847 1 0 "" nsv6332713 1 5079361 5081360 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060864 M 19652 0 1 "" nsv4036230 1 5083061 5094668 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851513 M 10847 0 1 "" nsv6321435 1 5086081 5086488 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060868 M 19652 0 1 "" nsv5620656 1 5090034 5090034 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065587 M 35 1 0 "" HG02818 nsv4534727 1 5090034 5090035 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024589 M 10847 1 0 "" nsv3324712 1 5090035 5090035 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14484293 M 14 1 0 "" HG02818 esv3386646 1 5090040 5090095 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898483 M 185 1 0 "" NA19093 nsv5680849 1 5090050 5090050 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203583,nssv17197273 M 3202 2 0 "" nsv5413907 1 5090050 5090101 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907234 M 3202 1 0 "" esv3306851 1 5090052 5090053 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7749686 M 185 1 0 "" NA19093 nsv4045287 1 5090201 5172131 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851746 M 10847 0 1 "" nsv4048110 1 5095998 5096128 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964139 M 10847 1 0 "" nsv6329423 1 5099909 5100098 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060875 M 19652 0 1 "" nsv5430270 1 5103944 5104174 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907245 M 3202 0 1 "" dgv63n54 1 5104037 5170712 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545161,nsv545165,nsv545166 M 17421 4 0 "" nsv4040119 1 5106587 5174789 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963738 M 10847 1 0 "" nsv6324892 1 5106761 5175060 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060878 M 19652 0 1 "" nsv5830243 1 5107588 5115656 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480487 M 914 0 0 "" nsv1001381 1 5112057 5174005 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472304,nssv3696762,nssv3465441,nssv3479297,nssv3480432,nssv3468116 M 11257 0 6 "" nsv4050291 1 5112426 5112518 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851757 M 10847 0 1 "" nsv523740 1 5113911 5170712 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv699556 M 2026 1 0 "" dgv64n54 1 5113911 5173804 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545162,nsv545163,nsv545164,nsv545167 M 17421 0 7 "" HGDP00529 nsv460839 1 5113911 5173804 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537339 M 1557 0 1 "" HGDP00529 esv3893989 1 5114102 5170712 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25781868,essv25786461 M 3017 0 2 "" nsv6324095 1 5114235 5114754 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060885 M 19652 0 1 "" nsv6321181 1 5115361 5117560 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060886 M 19652 0 1 "" nsv5984601 1 5116429 5118163 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534760 M 405 0 1 "" nsv6329484 1 5117261 5118360 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060888 M 19652 0 1 "" nsv6554693 1 5126537 5128807 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251210 M 19652 0 0 "" nsv6317032 1 5126997 5127695 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060896 M 19652 0 1 "" esv32797 1 5127270 5168845 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv101012 M 51 0 1 "" 21693 nsv4041826 1 5128054 5131913 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851767 M 10847 0 1 "" nsv6331226 1 5128488 5129011 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060899 M 19652 0 1 "" nsv5830053 1 5132652 5134459 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480083,nssv17480082 M 914 0 0 "" nsv5421260 1 5135485 5135797 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907256 M 3202 0 1 "" nsv5559708 1 5135638 5135810 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907267 M 3202 0 0 "" nsv4761605 1 5135730 5135730 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16287271 M 25 1 0 "" nsv4050098 1 5135748 5135805 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963748 M 10847 1 0 "" nsv3954254 1 5135768 5135768 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190299 M 1 1 0 "" HG002 nsv4444431 1 5135768 5135768 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15767027 M 1 1 0 "" nsv5610446 1 5135768 5135768 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065394 M 35 1 0 "" HG00731 nsv5953275 1 5135768 5135768 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17383302 M 914 1 0 "" nsv6045171 1 5135768 5135768 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524185 M 405 1 0 "" nsv3533379 1 5135770 5135770 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413100 M 9 1 0 "" HG00514 esv1109223 1 5135781 5135781 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4201133 M 2 1 0 "" HuRef nsv3051724 1 5135782 5135782 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020012 M 2 1 0 "" NA12878 nsv3324418 1 5135792 5135792 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490513,nssv14478450,nssv14487421,nssv14489245 M 14 4 0 "" HG02106,HG02818,NA12878,NA19240 nsv5830244 1 5138113 5139612 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480489,nssv17480084 M 914 0 0 "" nsv4048803 1 5140000 5147000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963759 M 10847 1 0 "" nsv6334170 1 5140006 5140311 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060906 M 19652 0 1 "" nsv5569807 1 5143126 5143202 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065396 M 35 0 1 "" HG00731 nsv3324419 1 5143128 5143204 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483942 M 14 0 1 "" HG01352 nsv4461793 1 5147444 5147445 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024599 M 10847 1 0 "" nsv520723 1 5151245 5164424 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv697576 M 2026 1 0 "" nsv6319021 1 5151734 5152480 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060912 M 19652 0 1 "" nsv4043929 1 5151944 5156922 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851778 M 10847 0 1 "" nsv6317854 1 5152261 5157360 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060913 M 19652 0 1 "" nsv6317741 1 5153061 5154660 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060914 M 19652 0 1 "" nsv6329546 1 5155246 5164083 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060920 M 19652 0 1 "" nsv4537937 1 5155909 5155910 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024609 M 10847 1 0 "" nsv4563762 1 5160806 5160807 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024619 M 10847 1 0 "" esv2675761 1 5163634 5165134 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6419459 M 1151 0 1 "" HG00692 esv3585084 1 5163652 5165101 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845195 M 2504 0 1 "" HG00692 nsv5423891 1 5163705 5165158 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907274 M 3202 0 1 "" nsv6323422 1 5165061 5166160 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060930 M 19652 0 1 "" nsv5571341 1 5165167 5166075 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065401 M 35 0 1 "" NA19238 nsv6325687 1 5165234 5166195 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201439 M 19652 1 0 "" esv3585085 1 5165240 5166206 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845200,essv9845196,essv9845199,essv9845209,essv9845223,essv9845198,essv9845210,essv9845222,essv9845197,essv9845201,essv9845216,essv9845213,essv9845218,essv9845212,essv9845221,essv9845208,essv9845219,essv9845211,essv9845217,essv9845206,essv9845220,essv9845202,essv9845215,essv9845207,essv9845224,essv9845214,essv9845225,essv9845204,essv9845203,essv9845205 M 2504 0 30 "" HG01241,HG01985,HG02317,HG02462,HG02477,HG02573,HG02756,HG02759,HG02808,HG02946,HG03109,HG03129,HG03136,HG03168,HG03224,HG03265,HG03295,HG03367,HG03401,HG03547,NA18923,NA19098,NA19114,NA19117,NA19143,NA19235,NA19238,NA19257,NA19378,NA20340 nsv4048133 1 5165243 5166199 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963768 M 10847 1 0 "" nsv5417661 1 5165248 5166178 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907275 M 3202 0 1 "" nsv6326063 1 5165261 5167160 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060931 M 19652 0 1 "" nsv6319573 1 5167681 5168239 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060933 M 19652 0 1 "" nsv4039256 1 5168000 5174000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963779 M 10847 1 0 "" nsv4041574 1 5168319 5171314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851797 M 10847 0 1 "" nsv5830084 1 5171024 5172665 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480491,nssv17480490 M 914 0 0 "" nsv5830085 1 5171624 5173265 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480492 M 914 0 0 "" esv2532762 1 5172047 5172764 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5197882 M 1 1 0 "" NA18507 esv2657993 1 5172334 5173571 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6291611,essv5720924 M 1151 0 2 "" HG00611,HG00654 nsv4754224 1 5172360 5172360 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16278144 M 25 1 0 "" nsv5984416 1 5172380 5172501 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17520958 M 405 1 0 "" nsv3537929 1 5172408 5172408 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440031 M 9 1 0 "" HG00733 nsv3561670 1 5172409 5172409 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14295429,nssv14295430,nssv14295428,nssv14295431 M 9 4 0 "" HG00731,HG00733,NA19238,NA19239 esv3585086 1 5172414 5173475 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845229,essv9845236,essv9845228,essv9845238,essv9845231,essv9845237,essv9845227,essv9845232,essv9845230,essv9845235,essv9845226,essv9845234,essv9845242,essv9845233,essv9845243,essv9845240,essv9845239,essv9845241 M 2504 0 18 "" HG00533,HG00596,HG00611,HG00654,HG00698,HG01597,HG01794,HG01850,HG02035,HG02373,HG02379,HG02384,HG02408,NA18618,NA18625,NA18639,NA18975,NA18997 nsv6050380 1 5172431 5172431 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528920 M 405 1 0 "" nsv3054065 1 5172449 5172449 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14026159 M 2 1 0 "" NA12878 nsv5885238 1 5172453 5173526 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384164 M 914 0 1 "" nsv3058868 1 5172470 5172470 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029592 M 2 1 0 "" CHM1 nsv5984417 1 5172470 5173527 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524708 M 405 0 1 "" nsv3947760 1 5172485 5172485 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190300 M 1 1 0 "" HG002 nsv5957970 1 5172485 5172485 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17386954 M 914 1 0 "" nsv2801247 1 5172486 5172486 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695379 M 2 1 0 "" nsv3324718 1 5172486 5172486 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487617,nssv14482727,nssv14486344,nssv14482541,nssv14475145,nssv14479327,nssv14489094,nssv14476236,nssv14488790,nssv14487923,nssv14479390,nssv14474869,nssv14491711 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240 nsv5611339 1 5172487 5172487 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065402 M 35 1 0 "" HG00731 nsv6334843 1 5172487 5173527 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061964 M 19652 0 1 "" esv1289856 1 5172490 5172490 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3630167 M 2 1 0 "" HuRef nsv3539391 1 5172497 5172497 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413101 M 9 1 0 "" HG00514 nsv2801624 1 5172517 5172517 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677024 M 2 1 0 "" nsv6043140 1 5172523 5172523 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536146 M 405 1 0 "" nsv3538332 1 5172547 5172547 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440033,nssv14373531 M 9 2 0 "" HG00733,NA19240 nsv3323982 1 5172575 5172575 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476814 M 14 1 0 "" NA19434 nsv5830361 1 5172616 5175321 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480493 M 914 0 0 "" esv3585087 1 5173809 5179107 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845244,essv9845245,essv9845247,essv9845246 M 2504 0 4 "" HG00593,NA18635,NA18989,NA19011 nsv5430307 1 5174229 5179034 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907276 M 3202 0 1 "" nsv5830245 1 5174266 5175521 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480494 M 914 0 0 "" nsv5830246 1 5174267 5178804 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480085 M 914 0 0 "" nsv5869664 1 5174294 5179008 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373371 M 914 0 1 "" nsv6318909 1 5174450 5179178 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061967 M 19652 0 1 "" nsv5984503 1 5174541 5178959 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524011 M 405 0 1 "" nsv5427684 1 5177420 5183570 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907277 M 3202 1 0 "" nsv4461796 1 5177593 5177594 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024629 M 10847 1 0 "" nsv5682788 1 5177602 5177602 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17200415 M 3202 1 0 "" nsv5396894 1 5177602 5177653 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907278 M 3202 1 0 "" esv2464561 1 5180854 5180930 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5250667 M 1 0 1 "" NA18507 nsv6331970 1 5180961 5183660 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061973 M 19652 0 1 "" nsv4052411 1 5180970 5181095 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964539 M 10847 1 0 "" nsv4517990 1 5183583 5183661 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851830 M 10847 0 1 "" nsv5570999 1 5186793 5186843 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065403 M 35 0 1 "" HG00096 nsv4533970 1 5188066 5188067 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024637 M 10847 1 0 "" nsv5545846 1 5188083 5188117 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907287 M 3202 1 0 "" nsv6540314 1 5188232 5189209 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251650 M 19652 0 0 "" nsv5693958 1 5194543 5194543 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17201949 M 3202 1 0 "" esv27138 1 5196671 5197414 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13523 M 40 0 1 "" NA19240 nsv5879645 1 5197123 5197210 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17370834 M 914 0 1 "" nsv4517985 1 5201316 5201372 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964548 M 10847 1 0 "" nsv5877259 1 5216598 5216671 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17371530 M 914 0 1 "" nsv5984506 1 5216598 5216672 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527439 M 405 0 1 "" nsv4033593 1 5216600 5216672 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851839 M 10847 0 1 "" nsv5422073 1 5216600 5216672 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907309 M 3202 0 1 "" nsv3227368 1 5218810 5233352 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14266496,nssv14266493,nssv14266495,nssv14266494 M 9 4 0 "" HG00512,HG00731,HG00732,NA19239 nsv5605304 1 5220143 5220143 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065409 M 35 1 0 "" NA20847 esv2465114 1 5220151 5220896 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5290540 M 1 1 0 "" NA18507 nsv1110992 1 5220219 5220290 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961421 M 2 1 0 "" KWS1 nsv4444432 1 5220232 5220232 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15760440 M 1 1 0 "" nsv5614285 1 5220250 5220250 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065410 M 35 1 0 "" NA20847 nsv3542969 1 5220251 5220251 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440034 M 9 1 0 "" HG00733 nsv3208217 1 5220251 5220358 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14297392,nssv14297393,nssv14297391 M 9 3 0 "" HG00731,HG00732,HG00733 esv2918 1 5220261 5220607 CNV loss Wang_et_al_2008 18987735 Sequencing essv25359 M 1 0 1 "" YH nsv3542409 1 5220268 5220268 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14372845 M 9 1 0 "" NA19240 nsv3530240 1 5220293 5220293 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387782 M 9 1 0 "" NA19240 nsv5607136 1 5220332 5220332 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065411 M 35 1 0 "" NA20847 nsv3926479 1 5220333 5220333 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190301 M 1 1 0 "" HG002 nsv2802280 1 5220334 5220334 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691771 M 2 1 0 "" nsv3323983 1 5220334 5220334 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473066,nssv14485030,nssv14488978,nssv14489858,nssv14485479,nssv14484676,nssv14490827,nssv14491874,nssv14487442,nssv14473332,nssv14482928,nssv14489077,nssv14481012,nssv14472130 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3530189 1 5220337 5220337 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382628 M 9 1 0 "" NA19240 nsv3535055 1 5220354 5220354 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413102 M 9 1 0 "" HG00514 nsv2802281 1 5220355 5220355 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690476 M 2 1 0 "" nsv3530897 1 5220361 5220361 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440035 M 9 1 0 "" HG00733 nsv3535230 1 5220367 5220367 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440036,nssv14413103 M 9 2 0 "" HG00514,HG00733 nsv5623256 1 5220368 5220368 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065412 M 35 1 0 "" HG00731 nsv6059946 1 5220368 5220368 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521072 M 405 1 0 "" nsv5548709 1 5220391 5220411 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907331 M 3202 1 0 "" nsv4558579 1 5225257 5225258 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022859 M 10847 1 0 "" nsv4049804 1 5233407 5234339 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851850 M 10847 0 1 "" esv3585088 1 5238714 5239827 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845248 M 2504 0 1 "" HG02087 nsv4045726 1 5238829 5239868 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853945 M 10847 0 1 "" nsv5420161 1 5238829 5239868 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907342 M 3202 0 1 "" nsv6315845 1 5240499 5240952 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062011 M 19652 0 1 "" nsv6551741 1 5241089 5241208 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249674 M 19652 0 0 "" nsv6326372 1 5245025 5253088 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062015 M 19652 0 1 "" nsv5433844 1 5255721 5256177 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907351 M 3202 0 1 "" nsv5869845 1 5260519 5260578 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387431 M 914 0 1 "" nsv3175170 1 5265435 5265926 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440037 M 9 0 0 "" HG00733 nsv4035859 1 5270215 5270280 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853956 M 10847 0 1 "" dgv77n152 1 5274567 5274620 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3192314,nsv3201192 M 9 0 2 "" HG00731,HG00733 nsv1120186 1 5274584 5274851 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960949 M 2 1 0 "" KWS1 nsv5614911 1 5274586 5274586 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065424 M 35 1 0 "" NA19238 nsv3323988 1 5274669 5274669 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482954 M 14 1 0 "" NA19240 nsv6329550 1 5277538 5326428 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201452 M 19652 1 0 "" nsv999560 1 5278606 5326471 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3462759 M 11257 1 0 "" nsv4034197 1 5282134 5284090 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964559 M 10847 1 0 "" nsv6329908 1 5282158 5284081 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061450 M 19652 0 1 "" nsv521242 1 5283942 5287108 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697864 M 2026 0 1 "" nsv545168 1 5284023 5305364 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708948 M 17421 0 1 "" nsv1144343 1 5285293 5285363 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995090 M 2 0 1 "" KWS1 nsv3323989 1 5285295 5285383 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473590 M 14 0 1 "" HG00514 esv3678000 1 5285300 5285361 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499403 M 20 0 1 "" nsv5614500 1 5285340 5285340 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065594 M 35 1 0 "" HG01596 nsv4516620 1 5287849 5288410 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853965 M 10847 0 1 "" esv2758917 1 5289767 5536678 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757720 M 270 1 0 "" NA19003 nsv4461963 1 5290231 5290232 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022869 M 10847 1 0 "" nsv5431672 1 5295907 5295959 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907354 M 3202 0 1 "" nsv5417029 1 5297771 5299021 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907355 M 3202 0 1 "" nsv5564098 1 5298053 5328643 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907356 M 3202 0 0 "" nsv5830056 1 5302069 5304593 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480504 M 914 0 0 "" esv3585089 1 5302073 5304597 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845251,essv9845256,essv9845249,essv9845257,essv9845250,essv9845255,essv9845253,essv9845260,essv9845252,essv9845259,essv9845254,essv9845258 M 2504 0 12 "" HG03115,HG03135,HG03193,HG03212,HG03464,HG03470,NA18912,NA19020,NA19152,NA19452,NA19457,NA19461 nsv5881557 1 5302112 5304559 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17371527 M 914 0 1 "" esv2656583 1 5302112 5304560 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5836252,essv5642149 M 1151 0 2 "" NA19452,NA19461 nsv4036316 1 5302114 5304560 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853972 M 10847 0 1 "" nsv5427212 1 5302114 5304560 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907357 M 3202 0 1 "" nsv6328009 1 5302161 5304560 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061458 M 19652 0 1 "" nsv4048946 1 5304767 5309710 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851524 M 10847 0 1 "" esv1963263 1 5306024 5306450 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4703012 M 1 0 1 "" NA18507 nsv6138584 1 5306134 5306201 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904319 M 3202 0 1 "" nsv5566631 1 5306134 5306270 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065597 M 35 0 1 "" HG03683 nsv3280539 1 5306183 5306237 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14437973,nssv14466902 M 9 0 2 "" HG00514,HG00733 nsv5572942 1 5306188 5306239 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065598 M 35 0 1 "" HG00731 nsv5984604 1 5306197 5306248 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534429 M 405 0 1 "" nsv3323990 1 5306202 5306253 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473978,nssv14484146,nssv14472162,nssv14473211,nssv14482821,nssv14489980,nssv14489948,nssv14485530 M 14 0 8 "" HG00514,HG00733,HG01352,HG02059,HG02818,HG04217,HX1,NA12878 nsv4750085 1 5306671 5306744 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16272162 M 25 0 1 "" dgv78n152 1 5306671 5306751 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282478,nsv3526024 M 9 0 7 "" HG00513,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv2802283 1 5306673 5306742 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690181 M 2 0 1 "" nsv3323991 1 5306673 5306742 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474167,nssv14481941,nssv14474235,nssv14477079,nssv14476855,nssv14490986,nssv14490539,nssv14485580 M 14 0 8 "" CHM13,HG00268,HG00733,HG02059,HG02106,HG04217,HX1,NA19240 nsv5606460 1 5306675 5306675 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065599 M 35 1 0 "" HG00513 nsv5885660 1 5306675 5306740 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17389286 M 914 1 0 "" nsv3948414 1 5306681 5306750 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180751 M 1 0 1 "" HG002 nsv5583202 1 5306681 5306750 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065600 M 35 0 1 "" HG00731 nsv5984511 1 5306681 5306750 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525719 M 405 0 1 "" esv3566092 1 5306681 5306751 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9764839 M 767 0 1 "" nsv1137720 1 5306681 5306751 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990225 M 2 0 1 "" KWS2 nsv6048718 1 5306690 5306690 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520241 M 405 1 0 "" nsv3530115 1 5306709 5306709 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413106 M 9 1 0 "" HG00514 nsv3323992 1 5306733 5306733 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475749 M 14 1 0 "" HG02818 esv3678032 1 5306750 5306823 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499432 M 20 0 1 "" nsv6322795 1 5314327 5315280 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061462 M 19652 0 1 "" nsv4037265 1 5315111 5316017 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851535 M 10847 0 1 "" nsv5984512 1 5318412 5319844 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524469 M 405 0 1 "" nsv5984377 1 5320843 5321014 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525888 M 405 0 1 "" nsv4042574 1 5320843 5321015 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851544 M 10847 0 1 "" nsv5420236 1 5320843 5321015 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904320 M 3202 0 1 "" nsv460950 1 5330757 5348270 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537425 M 1557 0 1 "" HGDP00998 nsv545169 1 5330757 5348270 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173649 M 17421 0 1 "" HGDP00998 nsv5972346 1 5335409 5340139 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17369977 M 914 0 0 "" nsv4032920 1 5340014 5340737 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851551 M 10847 0 1 "" nsv6323950 1 5340014 5340737 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061471 M 19652 0 1 "" nsv4035435 1 5344973 5345075 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852121 M 10847 0 1 "" nsv4516720 1 5347900 5347968 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964569 M 10847 1 0 "" nsv5422490 1 5347900 5347968 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904321 M 3202 1 0 "" nsv4533616 1 5347912 5347913 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022879 M 10847 1 0 "" nsv4533155 1 5347968 5347969 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022889 M 10847 1 0 "" dgv79n152 1 5349344 5353209 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3190866,nsv3206757 M 9 0 1 "" HG00733 nsv1113065 1 5349996 5350180 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990226,nssv3995091 M 2 0 2 "" KWS1,KWS2 esv3678060 1 5350108 5350182 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499458 M 20 0 1 "" nsv5878365 1 5350892 5350945 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382582 M 914 0 1 "" nsv5984428 1 5350892 5350946 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527883 M 405 0 1 "" nsv5567142 1 5350910 5351275 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065612 M 35 0 1 "" HG00731 nsv5870116 1 5350910 5351275 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386411 M 914 0 1 "" esv2671665 1 5350910 5351276 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6540368,essv6052126,essv5440076,essv6328526,essv5779798,essv6296706,essv5800925,essv5659484,essv6246074,essv5996842,essv6509635,essv5856400,essv6492274 M 1151 0 13 "" HG00160,HG00278,HG00280,HG00375,HG00731,HG01551,NA12155,NA12282,NA12892,NA19663,NA19703,NA19749,NA20507 nsv1144344 1 5350910 5351276 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995092 M 2 0 1 "" KWS1 nsv3525383 1 5350910 5351276 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14298632,nssv14298633 M 9 0 2 "" HG00731,HG00733 nsv3949857 1 5350910 5351276 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180752 M 1 0 1 "" HG002 nsv4449168 1 5350910 5351276 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15758787 M 1 0 1 "" nsv6322128 1 5350910 5351276 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061480 M 19652 0 1 "" esv3566314 1 5350910 5351287 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9765061 M 767 0 1 "" nsv3325106 1 5350912 5351277 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481027 M 14 0 1 "" HG00733 nsv5423772 1 5350913 5351276 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904323 M 3202 0 1 "" nsv4043073 1 5350913 5351324 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852129 M 10847 0 1 "" nsv3172254 1 5350914 5351280 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14466277 M 9 0 0 "" HG00733 esv3649362 1 5351036 5351036 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473629 M 20 1 0 "" esv3585090 1 5359262 5362142 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845265,essv9845274,essv9845270,essv9845273,essv9845264,essv9845262,essv9845263,essv9845269,essv9845261,essv9845266,essv9845271,essv9845268,essv9845272,essv9845267 M 2504 0 14 "" HG00638,HG01247,HG02477,HG02621,HG02628,HG02947,HG03027,HG03081,HG03130,HG03172,NA18856,NA19319,NA19451,NA19472 nsv5880022 1 5359279 5362134 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380962 M 914 0 1 "" esv2663969 1 5359279 5362135 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5526874,essv5404073,essv6181377,essv5451969,essv5861421 M 1151 0 5 "" HG00638,NA18856,NA19319,NA19451,NA19472 nsv4048861 1 5359281 5362135 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852138 M 10847 0 1 "" nsv5432586 1 5359281 5362135 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904324 M 3202 0 1 "" nsv6335031 1 5359281 5362135 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061487 M 19652 0 1 "" nsv5830254 1 5359284 5362033 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480094 M 914 0 0 "" nsv5575240 1 5364059 5364160 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065614 M 35 0 1 "" HG00512 nsv3954437 1 5364059 5364161 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180753 M 1 0 1 "" HG002 nsv4449169 1 5364059 5364161 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15756854 M 1 0 1 "" esv2675805 1 5364059 5364212 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5620206,essv6459561,essv5640185,essv5904658,essv6368144,essv6431643,essv6097545,essv5564616,essv6048366,essv6312434,essv5856831,essv5631414,essv5395854,essv6015776,essv5723271,essv6017677,essv5400386,essv5668653,essv6328751,essv5920700,essv5488147,essv6515529,essv6100647,essv6396847,essv6374400,essv6108303,essv6352895,essv5816756,essv6010416,essv5628770,essv5891462,essv5866775,essv5416167,essv5487076,essv6364649,essv6209727,essv5454067,essv5950071,essv5495326,essv5437083,essv6276849,essv5535297,essv6402807,essv5932932,essv5691159,essv6038176,essv6135067,essv6078532,essv5716908,essv6021653,essv6003274,essv6289486,essv5510135,essv5745198 M 1151 0 54 "" HG00111,HG00137,HG00139,HG00140,HG00252,HG00253,HG00271,HG00275,HG00281,HG00282,HG00310,HG00313,HG00320,HG00321,HG00330,HG00337,HG00338,HG00339,HG00437,HG00442,HG00473,HG00475,HG00476,HG00500,HG00513,HG00543,HG00556,HG00584,HG00590,HG00619,HG00650,HG00692,HG00698,HG00699,HG00701,HG00705,HG01070,HG01075,HG01083,HG01173,HG01174,HG01334,NA18530,NA18557,NA18559,NA18611,NA18612,NA18613,NA18620,NA18622,NA18632,NA18636,NA19404,NA19920 nsv2802284 1 5364060 5364161 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13697391 M 2 0 1 "" nsv3324423 1 5364060 5364161 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474634,nssv14479816,nssv14489368,nssv14474764,nssv14476298,nssv14490082,nssv14484193,nssv14479396 M 14 0 8 "" CHM1,CHM13,HG00514,HG02059,HG04217,HX1,NA19240,NA19434 nsv3183791 1 5364060 5364162 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14435897,nssv14412238 M 9 0 0 "" HG00514,NA19240 nsv5984607 1 5364077 5364179 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523275 M 405 0 1 "" nsv4739088 1 5364083 5364184 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16291025 M 25 0 1 "" esv3678136 1 5364095 5364249 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499526 M 20 0 1 "" nsv1137197 1 5364120 5364175 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975891 M 2 0 1 "" KWS1 nsv3049251 1 5364141 5364244 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14019905 M 2 0 1 "" NA12878 nsv6327774 1 5369545 5390376 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201459 M 19652 1 0 "" nsv4039257 1 5370330 5376776 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964580 M 10847 1 0 "" nsv3324724 1 5375462 5375462 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487346 M 14 1 0 "" HG02106 nsv3325111 1 5375479 5375601 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484565 M 14 0 1 "" HG02106 nsv6043809 1 5375544 5375544 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536969 M 405 1 0 "" nsv4035648 1 5375758 5376605 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852148 M 10847 0 1 "" nsv6316575 1 5375758 5376605 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061497 M 19652 0 1 "" nsv6543599 1 5376365 5376948 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249776 M 19652 0 0 "" nsv1003726 1 5383308 5425109 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466555 M 11257 1 0 "" nsv481312 1 5383950 5383950 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012002 M 9 0 0 "" nsv473792 1 5383951 5383951 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012563 M 9 1 0 "" NA12156 nsv480602 1 5385217 5385217 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017310 M 9 0 0 "" nsv474984 1 5386033 5386033 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018294 M 9 1 0 "" NA18956 nsv4046166 1 5387000 5394000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852158 M 10847 0 1 "" nsv477558 1 5387318 5387318 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012506 M 9 1 0 "" NA18517 nsv481266 1 5387853 5387853 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012335 M 9 0 0 "" nsv6330112 1 5390068 5390574 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061500 M 19652 0 1 "" nsv479925 1 5390868 5390868 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014061 M 9 0 0 "" nsv473968 1 5391044 5391044 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015924 M 9 1 0 "" NA12156 nsv6329764 1 5391209 5392207 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061501 M 19652 0 1 "" nsv5984518 1 5392563 5393268 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529970 M 405 0 1 "" nsv4533798 1 5393422 5393423 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022898 M 10847 1 0 "" nsv3324427 1 5393423 5393423 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490872 M 14 1 0 "" HG01352 nsv5722303 1 5393432 5393432 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17248315,nssv17243419 M 3202 2 0 "" nsv5554439 1 5393432 5393483 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904328 M 3202 1 0 "" nsv10605 1 5393590 5395013 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv24593,nssv29260,nssv21430,nssv28532 M 31 4 0 "" NA07029,NA07048,NA12802,NA18504 nsv5618969 1 5394180 5394180 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065977 M 35 1 0 "" HG00731 nsv2801629 1 5394181 5394181 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678227,nssv13688366 M 2 2 0 "" nsv3944952 1 5394181 5394181 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190303 M 1 1 0 "" HG002 nsv5615199 1 5394181 5394181 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065978 M 35 1 0 "" HG00732 nsv3325115 1 5394182 5394331 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484458 M 14 0 1 "" HG01352 nsv3535499 1 5394187 5394187 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373783 M 9 1 0 "" NA19240 nsv4752889 1 5394190 5394190 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16262391 M 25 1 0 "" nsv4740259 1 5394190 5394450 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16263205 M 25 1 0 "" nsv6049586 1 5394191 5394191 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526716 M 405 1 0 "" nsv3535891 1 5394193 5394193 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413107 M 9 1 0 "" HG00514 nsv5984608 1 5394256 5394469 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527019 M 405 0 1 "" esv3678173 1 5394264 5394805 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499560 M 20 0 1 "" nsv3172756 1 5394429 5394484 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440038 M 9 0 0 "" HG00733 nsv5615756 1 5394442 5394442 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065979 M 35 1 0 "" HG03065 nsv479465 1 5394474 5394474 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020534 M 9 0 0 "" nsv2801978 1 5394534 5394534 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677902 M 2 1 0 "" nsv5984609 1 5394659 5394747 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534717 M 405 0 1 "" nsv6054939 1 5394738 5394738 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533442 M 405 1 0 "" nsv5608196 1 5394774 5394774 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065980 M 35 1 0 "" NA19983 nsv3541939 1 5394780 5394780 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386632 M 9 1 0 "" NA19240 nsv4037137 1 5396531 5397465 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852167 M 10847 0 1 "" nsv479520 1 5396840 5396840 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013929 M 9 0 0 "" nsv474387 1 5396914 5396914 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015116 M 9 1 0 "" NA18956 nsv480617 1 5397440 5397440 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011387 M 9 0 0 "" nsv474375 1 5397714 5397714 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016753 M 9 1 0 "" NA18956 nsv479836 1 5399048 5399048 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019925 M 9 0 0 "" nsv472280 1 5400958 5400958 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019293 M 9 1 0 "" NA18555 nsv4043934 1 5401577 5428434 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964590 M 10847 1 0 "" nsv481139 1 5402322 5402322 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013782 M 9 0 0 "" nsv479964 1 5403347 5403347 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015499 M 9 0 0 "" esv2677954 1 5403415 5404684 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5814474 M 1151 0 1 "" NA19703 esv3585092 1 5403433 5404651 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845298 M 2504 0 1 "" NA19703 nsv4035063 1 5403495 5404706 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852185 M 10847 0 1 "" nsv5416607 1 5403495 5404706 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904337 M 3202 0 1 "" nsv480009 1 5403543 5403543 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014433 M 9 0 0 "" nsv6331600 1 5406005 5406676 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061509 M 19652 0 1 "" esv3585093 1 5406463 5408838 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845299 M 2504 0 1 "" HG02087 nsv5419140 1 5406495 5408831 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904338 M 3202 0 1 "" nsv6324011 1 5408953 5409330 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061511 M 19652 0 1 "" esv3585094 1 5409220 5411126 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845300 M 2504 0 1 "" HG02087 nsv4046227 1 5409266 5411123 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852195 M 10847 0 1 "" nsv5414821 1 5409266 5411123 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904339 M 3202 0 1 "" nsv4050948 1 5409582 5469248 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964599 M 10847 1 0 "" nsv4461965 1 5426614 5426615 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022909 M 10847 1 0 "" nsv3228811 1 5446618 5448730 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260686,nssv14260685,nssv14260679,nssv14260680,nssv14260682,nssv14260684,nssv14260681,nssv14260683,nssv14260687 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv6057304 1 5447145 5447145 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527838 M 405 1 0 "" nsv6055246 1 5447177 5447177 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528995 M 405 1 0 "" nsv3542995 1 5447179 5447179 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379075 M 9 1 0 "" NA19240 nsv5619219 1 5447206 5447206 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065997 M 35 1 0 "" HG03486 nsv3537841 1 5447222 5447222 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386286 M 9 1 0 "" NA19240 nsv3536825 1 5447229 5447229 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413108,nssv14440039 M 9 2 0 "" HG00514,HG00733 nsv3932480 1 5447229 5447229 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190304 M 1 1 0 "" HG002 nsv5607949 1 5447229 5447229 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065998 M 35 1 0 "" HG00731 nsv6043129 1 5447229 5447229 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526346 M 405 1 0 "" nsv1142050 1 5447229 5447439 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978767,nssv3960950 M 2 2 0 "" KWS1,KWS2 nsv3526150 1 5447229 5447439 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14297663,nssv14297662 M 9 2 0 "" HG00731,HG00733 nsv2801631 1 5447230 5447230 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679699,nssv13678300 M 2 2 0 "" nsv3324729 1 5447230 5447230 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485943,nssv14479187,nssv14489515,nssv14474646,nssv14472853,nssv14475398,nssv14484446,nssv14477949,nssv14487422,nssv14474603,nssv14476903,nssv14474404,nssv14479095 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv3537052 1 5447232 5447232 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440040 M 9 1 0 "" HG00733 nsv5420298 1 5447233 5447439 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904341 M 3202 1 0 "" nsv4444433 1 5447246 5447246 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15768556 M 1 1 0 "" nsv6042298 1 5447353 5447353 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522499 M 405 1 0 "" nsv4052028 1 5447423 5447491 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852205 M 10847 0 1 "" nsv5868609 1 5447476 5447647 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376490 M 914 0 1 "" esv3678200 1 5447656 5447836 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499584 M 20 0 1 "" nsv6258104 1 5454651 5454651 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17843686 M 1021 1 0 "" nsv6054384 1 5464762 5464762 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519566 M 405 1 0 "" nsv5984432 1 5464829 5464937 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519643 M 405 0 1 "" nsv1147016 1 5464945 5465008 CNV deletion John_et_al_2014 26484159 Sequencing nssv3998373 M 1 0 1 "" KWB1 nsv4750884 1 5464954 5464954 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16279059 M 25 1 0 "" nsv5622008 1 5464961 5464961 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066000 M 35 1 0 "" HG00512 nsv5568644 1 5464961 5465020 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065999 M 35 0 1 "" NA19238 nsv2802286 1 5464962 5464962 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699217 M 2 1 0 "" nsv3324430 1 5464962 5464962 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472060,nssv14491102,nssv14480809,nssv14476819,nssv14483823 M 14 5 0 "" CHM1,CHM13,HG00268,HG00514,HG02106 nsv3325120 1 5464962 5465021 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488335 M 14 0 1 "" NA19434 nsv3280478 1 5464962 5465022 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412352 M 9 0 1 "" NA19240 nsv5984615 1 5464970 5465030 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535358 M 405 0 1 "" nsv6041313 1 5464974 5464974 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530110 M 405 1 0 "" nsv3538202 1 5464982 5464982 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413109 M 9 1 0 "" HG00514 dgv18n166 1 5465026 5465146 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4036457,nsv4035368 M 10847 2 0 "" nsv3054069 1 5465032 5465032 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033141 M 2 1 0 "" NA12878 nsv4461269 1 5465392 5465393 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022920 M 10847 1 0 "" nsv5416223 1 5466419 5466526 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904344 M 3202 0 1 "" nsv4032953 1 5473808 5473965 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962892 M 10847 1 0 "" nsv5421910 1 5473808 5473965 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904345 M 3202 1 0 "" nsv4037519 1 5473839 5473934 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852216 M 10847 0 1 "" nsv4042535 1 5473938 5474077 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964142 M 10847 1 0 "" esv2259894 1 5474029 5474457 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4831068 M 1 0 1 "" NA18507 nsv4517558 1 5474050 5474193 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964151 M 10847 1 0 "" nsv160607 1 5474168 5474241 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179185 M 24 "" nsv3281960 1 5474168 5474242 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14410721,nssv14462011 M 9 0 2 "" HG00733,NA19240 nsv3324730 1 5474176 5474249 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491135,nssv14488154,nssv14480309,nssv14472146,nssv14479734 M 14 0 5 "" HG00733,HX1,NA12878,NA19240,NA19434 nsv1151652 1 5474191 5474279 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003075 M 1 0 1 "" KWB1 nsv4046108 1 5474193 5474668 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852224 M 10847 0 1 "" nsv4738948 1 5474194 5474268 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16271446 M 25 0 1 "" nsv1076011 1 5474211 5474287 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762500 M 1 0 1 "" KWP1 nsv5582929 1 5474212 5474286 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066003 M 35 0 1 "" HG00732 esv2988852 1 5474212 5474287 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7258419 M 1 0 1 "" HuRef esv3566536 1 5474212 5474287 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9765283 M 767 0 1 "" nsv1144345 1 5474212 5474287 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995093 M 2 0 1 "" KWS1 nsv3525727 1 5474212 5474287 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14299864,nssv14299868,nssv14299866,nssv14299863,nssv14299867,nssv14299865 M 9 0 6 "" HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv3939045 1 5474212 5474287 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180754 M 1 0 1 "" HG002 nsv4449170 1 5474212 5474287 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15762621 M 1 0 1 "" esv3678238 1 5474212 5474288 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499618 M 20 0 1 "" nsv5984616 1 5474212 5474288 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524820 M 405 0 1 "" nsv6050629 1 5474213 5474213 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520638 M 405 1 0 "" esv1028089 1 5474230 5474305 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4224996 M 2 0 1 "" HuRef nsv3049256 1 5474231 5474306 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14032201 M 2 0 1 "" NA12878 nsv3324731 1 5474271 5474320 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481358 M 14 0 1 "" HG01352 nsv5620847 1 5474284 5474284 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066004 M 35 1 0 "" HG03486 nsv4048029 1 5474519 5474735 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852235 M 10847 0 1 "" nsv10716 1 5475030 5476810 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv26903 M 31 1 0 "" NA19221 nsv6321543 1 5476762 5485302 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061535 M 19652 0 1 "" nsv479240 1 5485341 5485341 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014489 M 9 0 0 "" nsv472893 1 5485473 5485473 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019845 M 9 1 0 "" NA19129 nsv479719 1 5485623 5485623 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018029 M 9 0 0 "" nsv481014 1 5486179 5486179 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012558 M 9 0 0 "" nsv481354 1 5486533 5486533 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019584 M 9 0 0 "" nsv473687 1 5488909 5488909 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010833 M 9 1 0 "" NA19129 nsv477009 1 5489582 5489582 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019418 M 9 1 0 "" NA12878 nsv545170 1 5489867 5541205 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708949 M 17421 0 1 "" nsv481592 1 5490508 5490508 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012018 M 9 0 0 "" nsv4042226 1 5490605 5540947 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851854 M 10847 0 1 "" nsv4044874 1 5490631 5493199 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851865 M 10847 0 1 "" nsv5430264 1 5490932 5491022 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904368 M 3202 0 1 "" nsv479588 1 5491671 5491671 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014470 M 9 0 0 "" nsv480794 1 5493337 5493337 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019522 M 9 0 0 "" nsv831092 1 5493368 5643744 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442085 M 95 1 0 MIR4417 nsv481180 1 5493915 5493915 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018352 M 9 0 0 "" nsv473316 1 5496757 5496757 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014447 M 9 1 0 "" NA19129 nsv479984 1 5498241 5498241 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012502 M 9 0 0 "" nsv4044498 1 5498527 5509843 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851875 M 10847 0 1 "" nsv480922 1 5498821 5498821 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020124 M 9 0 0 "" nsv475183 1 5500631 5500631 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018681 M 9 1 0 "" NA19240 nsv473909 1 5500940 5500940 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018625 M 9 1 0 "" NA12156 nsv475512 1 5503844 5503844 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011760 M 9 1 0 "" NA19240 nsv4516731 1 5514717 5514785 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964160 M 10847 1 0 "" nsv5431832 1 5514717 5514785 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904379 M 3202 1 0 "" nsv5612554 1 5514747 5514747 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065438 M 35 1 0 "" HG03065 nsv5955558 1 5514747 5514747 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17370691 M 914 1 0 "" nsv5580973 1 5534618 5534683 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065449 M 35 0 1 "" HG00731 nsv3524818 1 5534618 5534684 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14301491,nssv14301492,nssv14301493 M 9 0 3 "" HG00731,NA19239,NA19240 nsv5878366 1 5534621 5534686 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373685 M 914 0 1 "" nsv4517870 1 5534621 5534688 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851883 M 10847 0 1 "" nsv5414273 1 5534621 5534688 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16904399 M 3202 0 1 "" nsv3324435 1 5534622 5534687 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485288 M 14 0 1 "" NA19240 nsv3188170 1 5534622 5534688 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373449 M 9 0 0 "" NA19240 nsv5884084 1 5545557 5545896 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373185 M 914 0 1 "" nsv4039410 1 5545704 5546084 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964731 M 10847 1 0 "" nsv4040902 1 5545707 5546359 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964741 M 10847 1 0 "" nsv3204550 1 5545729 5545899 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14300246,nssv14300247,nssv14300245,nssv14300248,nssv14300249 M 9 0 5 "" HG00512,HG00513,HG00514,HG00731,HG00733 nsv6321159 1 5545899 5546174 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201488 M 19652 1 0 "" nsv4390832 1 5549798 5550149 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15703293 M 174 0 1 "" esv3649710 1 5550489 5550489 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16473942 M 20 1 0 "" nsv5869042 1 5558033 5558119 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17377397 M 914 1 0 "" nsv1129866 1 5559501 5559625 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965000 M 2 0 1 "" KWS2 nsv1076966 1 5559507 5559722 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771579 M 1 0 1 "" KWP1 nsv1130266 1 5559508 5559722 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3964752,nssv3982404 M 2 0 2 "" KWS1,KWS2 esv2607553 1 5559509 5559610 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5236789 M 1 0 1 "" NA18507 nsv3280422 1 5559524 5559645 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376694 M 9 0 1 "" NA19240 nsv1129455 1 5559590 5559708 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962909 M 2 1 0 "" KWS1 nsv3530485 1 5559712 5559712 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392186 M 9 1 0 "" NA19240 nsv5870994 1 5560843 5560902 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383855 M 914 0 1 "" nsv4042629 1 5571811 5571988 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851901 M 10847 0 1 "" nsv5542851 1 5583385 5583501 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905655 M 3202 1 0 "" nsv4532909 1 5583403 5583404 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022950 M 10847 1 0 "" nsv6551368 1 5583784 5584993 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249819 M 19652 0 0 "" nsv4048961 1 5584787 5589865 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851911 M 10847 0 1 "" nsv6329059 1 5584787 5589865 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062211 M 19652 0 1 "" nsv4461820 1 5593444 5593445 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022960 M 10847 1 0 "" nsv4039151 1 5596111 5596188 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964750 M 10847 1 0 "" nsv5432561 1 5596111 5596188 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905657 M 3202 1 0 "" nsv953925 1 5597801 5607700 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3000303 M 1 1 0 "" BILGI_BIOE dgv36n223 1 5604661 5607560 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6333502,nsv6327182 M 19652 0 2 "" nsv6331303 1 5604861 5605760 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061646 M 19652 0 1 "" nsv478357 1 5605278 5605278 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011835 M 9 1 0 "" NA18507 nsv4461566 1 5608087 5608088 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022970 M 10847 1 0 "" nsv5559467 1 5618001 5619049 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905661 M 3202 0 0 "" nsv6539394 1 5618178 5619044 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249822 M 19652 0 0 "" nsv527712 1 5623683 5625566 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704192 M 2026 0 1 MIR4417 nsv6330457 1 5623861 5624860 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061660 M 19652 0 1 MIR4417 dgv2n21 1 5624529 5625566 CNV loss Shaikh_et_al_2009 19592680 SNP array nsv526005,nsv519513 M 2026 0 4 "" nsv4039454 1 5628712 5643582 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851918 M 10847 0 1 "" nsv5416894 1 5633237 5633986 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905662 M 3202 0 1 "" nsv4039474 1 5633415 5768964 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964761 M 10847 1 0 "" nsv5577847 1 5633688 5633985 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065875 M 35 0 1 "" HG03065 nsv5881735 1 5633688 5633985 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381607 M 914 0 1 "" esv2669319 1 5633688 5633986 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5889786,essv5603993,essv5478691,essv6498314,essv5608106,essv5560026,essv6429604,essv6173891,essv5587877,essv6305492,essv6149955,essv6476038,essv6355678,essv6496995,essv5636736,essv5607342,essv6334378,essv6452914,essv6036715,essv5400393,essv5399348,essv5928382,essv6346612,essv5483457,essv6208210,essv6234181,essv6410575,essv6463945,essv5453155,essv5826814,essv6506229 M 1151 0 31 "" HG00329,HG00375,HG00501,HG00524,HG01440,NA07051,NA11993,NA12004,NA12044,NA12749,NA12750,NA12813,NA12828,NA18486,NA18523,NA18558,NA18853,NA18916,NA18956,NA18967,NA18972,NA18975,NA19098,NA19171,NA19312,NA19373,NA19374,NA19397,NA19463,NA19625,NA19818 nsv5984441 1 5633688 5633986 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529805 M 405 0 1 "" nsv6329702 1 5633688 5633986 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061664 M 19652 0 1 "" esv3566648 1 5633688 5634013 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9765395 M 767 0 1 "" nsv4045227 1 5633690 5633986 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851929 M 10847 0 1 "" nsv6138748 1 5633690 5634127 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905663 M 3202 0 1 "" nsv6320486 1 5636305 5644037 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061668 M 19652 0 1 "" nsv5984398 1 5639578 5640789 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520842 M 405 0 1 "" nsv4050079 1 5641190 5641919 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852244 M 10847 0 1 "" nsv1076017 1 5641222 5641279 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769895 M 1 0 1 "" KWP1 nsv1133797 1 5641223 5641279 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969367 M 2 0 1 "" KWS2 nsv6550905 1 5644114 5645081 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249823 M 19652 0 0 "" nsv4034792 1 5644646 5645324 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852495 M 10847 0 1 "" nsv5886829 1 5644646 5645439 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17389431 M 914 0 1 "" esv2673462 1 5644646 5645443 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6161251,essv6139149,essv6576477 M 1151 0 3 "" NA19380,NA19382,NA19436 nsv5418952 1 5644646 5645443 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905665 M 3202 0 1 "" nsv6321530 1 5644646 5645443 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061676 M 19652 0 1 "" esv3585095 1 5644653 5645445 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845306,essv9845301,essv9845311,essv9845302,essv9845309,essv9845303,essv9845310,essv9845304,essv9845307,essv9845305,essv9845308 M 2504 0 11 "" HG01702,HG02628,HG02643,HG02888,HG03352,HG03558,NA19025,NA19137,NA19380,NA19436,NA19984 nsv3223630 1 5646978 5654147 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14273986 M 9 1 0 "" HG00731 nsv5429701 1 5650618 5650696 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905666 M 3202 0 1 "" esv3668094 1 5653348 5653348 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490489 M 20 1 0 "" nsv3561703 1 5653348 5653348 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14299681,nssv14299678,nssv14299679,nssv14299680 M 9 4 0 "" HG00731,HG00732,HG00733,NA19238 nsv4752565 1 5653348 5653348 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16292767 M 25 1 0 "" nsv5610494 1 5653348 5653348 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065878 M 35 1 0 "" HG00731 nsv5953328 1 5653348 5653348 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17382929 M 914 1 0 "" nsv6045233 1 5653348 5653348 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535634 M 405 1 0 "" nsv3172236 1 5653348 5653411 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440042 M 9 0 0 "" HG00733 esv1008325 1 5653349 5653349 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577403 M 3 1 0 "" HuRef nsv2801982 1 5653349 5653349 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677161 M 2 1 0 "" nsv3325130 1 5653349 5653349 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491800,nssv14476688,nssv14479081,nssv14475015,nssv14475396,nssv14485219,nssv14482862,nssv14484949 M 14 8 0 "" CHM13,HG00268,HG00733,HG01352,HG02106,HG02818,HX1,NA19434 esv1402936 1 5653350 5653350 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3729262 M 2 1 0 "" HuRef nsv5536867 1 5653350 5653399 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905667 M 3202 1 0 "" nsv5984528 1 5661906 5661964 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523717 M 405 0 1 "" esv3649855 1 5662887 5662887 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16474073 M 20 1 0 "" esv2165265 1 5663223 5663590 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4655011 M 1 0 1 "" NA18507 nsv1110126 1 5663300 5664600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3959391 M 2 1 0 "" KWS1 nsv5984400 1 5663439 5663491 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521475 M 405 0 1 "" esv2622825 1 5663834 5663894 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5341576 M 1 0 1 "" NA18507 nsv1125167 1 5664423 5664511 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3977972 M 2 1 0 "" KWS2 nsv1116584 1 5664450 5664505 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978768 M 2 1 0 "" KWS2 nsv5606958 1 5664506 5664506 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065638 M 35 1 0 "" HG02011 nsv6319453 1 5667961 5669560 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061694 M 19652 0 1 "" nsv4043377 1 5668121 5671287 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852506 M 10847 0 1 "" nsv5424189 1 5668121 5671287 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905670 M 3202 0 1 "" nsv6324884 1 5668121 5671287 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061696 M 19652 0 1 "" esv3585096 1 5668174 5671379 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845312 M 2504 0 1 "" HG03084 nsv5417585 1 5670764 5670869 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905672 M 3202 1 0 "" nsv4433144 1 5693001 5695000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15751237 M 15 1 0 "" MDQ010 nsv4051898 1 5693548 5697836 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852515 M 10847 0 1 "" esv3678360 1 5693553 5693622 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499728 M 20 0 1 "" nsv5614627 1 5693758 5693758 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065639 M 35 1 0 "" HG03125 nsv5872602 1 5693814 5694001 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384259 M 914 0 1 "" dgv80n152 1 5693814 5694002 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3192568,nsv3200728 M 9 0 6 "" HG00512,HG00513,HG00514,NA19238,NA19239,NA19240 nsv4751997 1 5693827 5693827 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16287293 M 25 1 0 "" nsv6041941 1 5693855 5693855 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536582 M 405 1 0 "" nsv5580005 1 5693908 5694001 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065640 M 35 0 1 "" HG02818 nsv3325132 1 5693909 5694002 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485057 M 14 0 1 "" HG02818 nsv1153170 1 5693913 5694015 CNV deletion John_et_al_2014 26484159 Sequencing nssv4001087 M 1 0 1 "" KWB1 nsv1112218 1 5693920 5694024 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965915 M 2 0 1 "" KWS2 nsv6050904 1 5693921 5693921 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519073 M 405 1 0 "" esv3681538 1 5693957 5694101 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16502589 M 20 0 0 "" nsv6050659 1 5693981 5693981 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533305 M 405 1 0 "" nsv4052333 1 5694735 5694874 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964771 M 10847 1 0 "" nsv6315667 1 5695765 5697506 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061713 M 19652 0 1 "" nsv4032858 1 5695768 5697506 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852524 M 10847 0 1 "" nsv4558337 1 5697314 5697315 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024657 M 10847 1 0 "" nsv5416430 1 5701499 5701588 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905673 M 3202 1 0 "" nsv4462331 1 5703207 5703208 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024667 M 10847 1 0 "" nsv945752 1 5713706 5718125 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750311,nssv1750255,nssv1750264,nssv1750304,nssv1750308,nssv1750303,nssv2572204,nssv1750251,nssv1750291,nssv1750305,nssv2572208,nssv1750246,nssv1750271,nssv1750258,nssv1750275,nssv1750249,nssv1750294,nssv1750245,nssv1750281,nssv1750228,nssv1750297,nssv1750236,nssv1750312,nssv1750237,nssv1750268,nssv1750229,nssv2572199,nssv1750257,nssv1750317,nssv1750232,nssv1750290,nssv1750244,nssv1750283,nssv1750298,nssv1750316,nssv1750225,nssv1750285,nssv1750302,nssv1750293,nssv1750301,nssv2572210,nssv1750238,nssv1750284,nssv1750252,nssv2572197,nssv1750300,nssv1750313,nssv1750233,nssv1750266,nssv1750254,nssv2572198,nssv1750227,nssv1750279,nssv1750234,nssv1750259,nssv1750299,nssv1750288,nssv1750307,nssv1750276,nssv1750248,nssv1750309,nssv1750256,nssv2572203,nssv1750241,nssv1750270,nssv1750226,nssv1750278,nssv1750253,nssv1750272,nssv1750240,nssv2572201,nssv1750243,nssv1750296,nssv1750247,nssv1750261,nssv1750221,nssv1750269,nssv1750250,nssv1750262,nssv1750242,nssv1750265,nssv1750235,nssv2572212,nssv1750239,nssv1750267,nssv1750231,nssv1750287,nssv1750222,nssv1750263,nssv1750306,nssv1750295,nssv1750224,nssv2572202,nssv1750230,nssv1750310,nssv1750223,nssv1750289,nssv1750286,nssv1750277,nssv1750260,nssv1750314,nssv2572200,nssv2572209,nssv2572207,nssv2572211,nssv1750273,nssv1750280,nssv2572205,nssv2572213,nssv1750292,nssv1750315,nssv1750282,nssv2572206,nssv1750274 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4049486 1 5714125 5717754 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852533 M 10847 0 1 "" esv2736140 1 5715844 5715956 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6906088,essv6707250,essv6675186 M 96 0 3 "" SSM014,SSM032,SSM041 nsv5578493 1 5715917 5715968 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065647 M 35 0 1 "" NA19238 nsv3192618 1 5715917 5715969 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14300865,nssv14300864 M 9 0 2 "" NA19238,NA19239 nsv5984444 1 5715923 5715975 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525151 M 405 0 1 "" nsv4537061 1 5716096 5716097 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024677 M 10847 1 0 "" esv3368079 1 5717162 5717162 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740929 M 185 1 0 "" NA12878 nsv4043951 1 5719483 5719629 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852553 M 10847 0 1 "" nsv5421417 1 5719483 5719629 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905675 M 3202 0 1 "" dgv30e59 1 5724665 5737163 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3391008,esv3345322,esv3335908,esv3435601,esv3346737,esv3335249 M 185 6 0 "" NA12878,NA12891,NA12892,NA19238,NA19239,NA19240 esv3585097 1 5725069 5727357 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845313 M 2504 0 1 "" NA18627 nsv5418226 1 5725113 5727394 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905676 M 3202 0 1 "" nsv945753 1 5725815 5736612 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750331,nssv1750362,nssv1750339,nssv1750360,nssv1750337,nssv1750383,nssv1750344,nssv2572223,nssv1750325,nssv2572220,nssv1750326,nssv1750408,nssv1750335,nssv2572218,nssv1750396,nssv1750378,nssv1750349,nssv1750411,nssv1750351,nssv1750366,nssv1750347,nssv2572214,nssv1750333,nssv1750359,nssv1750340,nssv1750390,nssv1750341,nssv1750370,nssv1750355,nssv1750394,nssv1750322,nssv1750388,nssv1750398,nssv1750375,nssv1750354,nssv1751336,nssv1750334,nssv2572230,nssv1750395,nssv2572221,nssv1750402,nssv1750389,nssv1750330,nssv1750361,nssv1750329,nssv2572224,nssv1750342,nssv1750380,nssv1750324,nssv1750357,nssv1750323,nssv1750369,nssv1750318,nssv1750387,nssv1750401,nssv2572227,nssv1750399,nssv2572222,nssv1750404,nssv1750405,nssv1750397,nssv1750368,nssv1750336,nssv2572229,nssv1750343,nssv1750409,nssv1750353,nssv1750372,nssv1750332,nssv1750371,nssv1750350,nssv2572216,nssv1750338,nssv1750365,nssv1750400,nssv1750377,nssv1750345,nssv1750410,nssv1750346,nssv1750391,nssv1750352,nssv1750379,nssv1750348,nssv2572225,nssv1750319,nssv1751338,nssv1750320,nssv1750363,nssv1750327,nssv2572215,nssv1750328,nssv1750356,nssv1750403,nssv1750358,nssv1750321,nssv1750367,nssv1750374,nssv1750393,nssv1750382,nssv1750381,nssv2572219,nssv2572217,nssv1750406,nssv1750384,nssv1750385,nssv1750376,nssv1751337,nssv1750373,nssv1750364,nssv2572231,nssv2572226,nssv1750386,nssv1750392,nssv1750407 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5421997 1 5726350 5736160 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905677 M 3202 0 0 "" nsv1075076 1 5727062 5727132 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771810 M 1 0 1 "" KWP1 nsv1126970 1 5727063 5727132 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985257 M 2 0 1 "" KWS1 dgv25n106 1 5727100 5736100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1141126,nsv1132277 M 2 2 0 "" KWS1,KWS2 nsv6334647 1 5727691 5728276 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202075 M 19652 1 0 "" esv2674386 1 5727693 5727959 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5927529,essv5786001,essv6301555,essv5692394,essv5738482,essv6020750,essv5418071,essv5935278,essv5932568,essv5613090,essv5489756,essv5549176,essv6310515,essv6190723,essv6212200,essv6213259,essv5790903,essv5972280,essv6509161,essv6108169,essv6565812,essv6356112,essv6294299,essv6566648,essv6122182,essv5667480,essv5850151,essv6326712,essv5832322,essv5411958,essv5571822,essv5574275,essv6384347,essv6221620,essv5898834,essv6384104,essv6060968,essv5499783,essv5768514,essv6129857,essv6148778,essv5504297,essv5665252 M 1151 0 43 "" HG00251,HG00418,HG00422,HG00427,HG00428,HG00437,HG00448,HG00463,HG00500,HG00534,HG00657,HG00684,HG00689,HG00690,HG00698,HG00701,HG00702,HG00705,HG00708,HG01108,NA18519,NA18549,NA18557,NA18592,NA18636,NA18637,NA18917,NA18945,NA18960,NA19225,NA19359,NA19371,NA19374,NA19377,NA19380,NA19382,NA19384,NA19385,NA19463,NA19703,NA20299,NA20317,NA20322 dgv81n152 1 5727696 5727893 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3192323,nsv3282354 M 9 0 2 "" NA19239,NA19240 nsv3325410 1 5727697 5727892 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489854 M 14 0 1 "" NA19240 nsv5583504 1 5727725 5727920 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065649 M 35 0 1 "" NA19238 dgv2e201 1 5727728 5728179 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2736251,esv2736473 M 96 0 9 "" SSM026,SSM029,SSM034,SSM075,SSM078,SSM088,SSM089,SSM097,SSM098 esv2736362 1 5727732 5727890 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6816567,essv6859167,essv6972305 M 96 0 3 "" SSM029,SSM078,SSM088 nsv5984445 1 5727733 5727930 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529485 M 405 0 1 "" nsv5606808 1 5727758 5727758 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065650 M 35 1 0 "" NA19238 esv3678449 1 5727921 5728054 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499808 M 20 0 1 "" nsv5984629 1 5727923 5728020 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535057 M 405 0 1 "" esv2736584 1 5727967 5728353 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6888992 M 96 0 1 "" SSM097 nsv5984630 1 5728004 5728242 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526097 M 405 0 1 "" nsv4766588 1 5728049 5728049 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16291093 M 25 1 0 "" nsv1132825 1 5728101 5728187 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3987618 M 2 1 0 "" KWS1 nsv3325411 1 5728114 5728114 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476182 M 14 1 0 "" HG00514 nsv3927459 1 5728178 5728178 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190314 M 1 1 0 "" HG002 nsv4444434 1 5728178 5728178 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15763277 M 1 1 0 "" nsv6054118 1 5728178 5728178 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528625 M 405 1 0 "" nsv3325134 1 5728179 5728179 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477827 M 14 1 0 "" HG00733 nsv956700 1 5728190 5728347 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000519 M 1 0 1 "" BILGI_BIOE nsv5607291 1 5728230 5728230 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065651 M 35 1 0 "" HG00732 nsv3187586 1 5728230 5728330 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440043,nssv14413110 M 9 0 0 "" HG00514,HG00733 nsv2801983 1 5728231 5728231 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686444 M 2 1 0 "" nsv3325412 1 5728231 5728231 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14476538,nssv14488306 M 14 2 0 "" CHM1,NA19434 nsv953926 1 5730001 5736500 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3000315 M 1 1 0 "" BILGI_BIOE nsv1149880 1 5730199 5733400 CNV duplication John_et_al_2014 26484159 Sequencing nssv3998666 M 1 1 0 "" KWB1 nsv1075363 1 5730299 5736100 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3768871 M 1 1 0 "" KWP1 nsv1122286 1 5731415 5731479 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969368,nssv3982405 M 2 0 2 "" KWS1,KWS2 nsv1133798 1 5731629 5731701 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969737,nssv3985258 M 2 0 2 "" KWS1,KWS2 esv2474640 1 5731828 5734689 CNV gain McKernan_et_al_2009 19546169 Sequencing essv5304912 M 1 1 0 "" NA18507 nsv1119658 1 5732233 5732301 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982103 M 2 0 1 "" KWS1 dgv26n106 1 5732637 5732688 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1145314,nsv1133799 M 2 0 2 "" KWS1,KWS2 nsv1113066 1 5732840 5732895 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990227,nssv3995094 M 2 0 2 "" KWS1,KWS2 esv3894100 1 5734013 5770265 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25798932 M 3017 0 1 "" nsv5691293 1 5734750 5734750 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203134 M 3202 1 0 "" nsv1122287 1 5734976 5735034 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969738 M 2 0 1 "" KWS2 esv3585098 1 5738969 5746950 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845314 M 2504 0 1 "" NA18971 nsv5418757 1 5739018 5746957 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905678 M 3202 0 1 "" nsv1133800 1 5746343 5746441 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969370 M 2 0 1 "" KWS2 nsv6321169 1 5751161 5754838 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062378 M 19652 0 1 "" nsv545171 1 5753350 5887140 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708950 M 17421 1 0 "" nsv6326765 1 5754207 5755509 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062380 M 19652 0 1 "" nsv523099 1 5758772 5765353 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv698792 M 2026 1 0 "" nsv5984529 1 5759870 5766380 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521168 M 405 0 1 "" nsv6335366 1 5760635 5763770 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062384 M 19652 0 1 "" esv2736695 1 5761484 5761660 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6892304 M 96 0 1 "" SSM098 nsv5608768 1 5761813 5761813 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065662 M 35 1 0 "" HG00513 nsv4762565 1 5761817 5761817 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16279582 M 25 1 0 "" nsv5963996 1 5761825 5761825 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17371866 M 914 1 0 "" nsv6058357 1 5761825 5761825 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524082 M 405 1 0 "" nsv3325415 1 5761826 5761826 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477683 M 14 1 0 "" HX1 nsv6538009 1 5764094 5767411 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249842 M 19652 0 0 "" nsv6328772 1 5764387 5767416 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062386 M 19652 0 1 "" nsv5429548 1 5764584 5767292 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905679 M 3202 1 0 "" nsv5575927 1 5766984 5767213 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065663 M 35 0 1 "" NA19983 nsv5879232 1 5766984 5767213 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382017 M 914 0 1 "" esv2662153 1 5766984 5767216 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6036122,essv5689657,essv6320453 M 1151 0 3 "" NA19372,NA19399,NA20340 nsv4517191 1 5766984 5767216 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852564 M 10847 0 1 "" nsv5427008 1 5766984 5767216 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905680 M 3202 0 1 "" nsv6328594 1 5766984 5767216 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062388 M 19652 0 1 "" nsv5619939 1 5772084 5772084 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065664 M 35 1 0 "" HG03125 nsv5984632 1 5772318 5772372 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522625 M 405 0 1 "" nsv3948930 1 5773583 5773583 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190329 M 1 1 0 "" HG002 nsv4444435 1 5773583 5773583 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762170 M 1 1 0 "" nsv5612727 1 5773583 5773583 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065667,nssv17065666 M 35 2 0 "" HG00731,HG00732 esv3678508 1 5773583 5773647 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499861 M 20 0 1 "" nsv5872257 1 5773583 5773708 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384709 M 914 0 1 "" nsv5984633 1 5773612 5773676 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520915 M 405 0 1 "" nsv6045467 1 5773677 5773677 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531306 M 405 1 0 "" nsv3171796 1 5773718 5773780 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379803 M 9 0 0 "" NA19240 nsv3325136 1 5773738 5773738 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472886 M 14 1 0 "" HG02818 nsv6048746 1 5782467 5782467 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517687 M 405 1 0 "" nsv5607402 1 5782478 5782478 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065668 M 35 1 0 "" HG03009 nsv5714551 1 5786884 5786884 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17234272 M 3202 1 0 "" nsv521706 1 5790498 5790655 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv698329 M 2026 1 0 "" nsv6258481 1 5792523 5792523 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17845312 M 1021 1 0 "" esv3678566 1 5793642 5793699 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499913 M 20 0 1 "" nsv4034532 1 5794000 5799000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852573 M 10847 0 1 "" nsv1115332 1 5795700 5799800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976384 M 2 1 0 "" KWS2 esv2736806 1 5796228 5796823 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6725837,essv6703847,essv6843732,essv6679146 M 96 0 4 "" SSM011,SSM033,SSM040,SSM046 esv2736917 1 5796331 5796449 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6843732 M 96 0 1 "" SSM011 esv2737028 1 5796331 5796639 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6725837,essv6703847,essv6843732 M 96 0 3 "" SSM011,SSM040,SSM046 nsv5984448 1 5796421 5796476 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526101 M 405 0 1 "" nsv6323912 1 5796961 5798160 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202079 M 19652 1 0 "" nsv4517312 1 5797101 5798093 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964780 M 10847 1 0 "" nsv4046189 1 5799815 5812484 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852581 M 10847 0 1 "" nsv1005415 1 5802073 5820657 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473594 M 11257 0 1 "" esv2165525 1 5804042 5804503 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4933008 M 1 0 1 "" NA18507 esv2737139 1 5804090 5804332 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6895833,essv6686143 M 96 0 2 "" SSM035,SSM099 nsv4449243 1 5804147 5804243 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15760929 M 1 0 1 "" dgv82n152 1 5804148 5804247 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282357,nsv3279959 M 9 0 3 "" HG00514,HG00733,NA19240 dgv83n152 1 5804148 5804365 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280201,nsv3197939 M 9 0 3 "" NA19238,NA19239,NA19240 nsv2801986 1 5804149 5804248 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13705388 M 2 0 1 "" nsv3324015 1 5804149 5804248 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491251,nssv14486023,nssv14490273,nssv14474422,nssv14480275,nssv14480211,nssv14473910,nssv14481800,nssv14481368,nssv14474196,nssv14484101,nssv14481455,nssv14474664,nssv14481419 M 14 0 14 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4738707 1 5804166 5804266 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16283928 M 25 0 1 "" nsv3935392 1 5804169 5804269 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180776 M 1 0 1 "" HG002 nsv5573553 1 5804171 5804290 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065675 M 35 0 1 "" HG00731 nsv5984449 1 5804180 5804277 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535071 M 405 0 1 "" nsv5868547 1 5804181 5804364 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17379730 M 914 0 1 "" nsv3053906 1 5804192 5804294 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14028585 M 2 0 1 "" NA12878 nsv5584297 1 5804281 5804364 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065676 M 35 0 1 "" NA19983 nsv6540440 1 5806094 5807610 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249844 M 19652 0 0 "" nsv5420494 1 5807754 5807969 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905683 M 3202 0 1 "" nsv6043120 1 5807907 5807907 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534801 M 405 1 0 "" nsv470688 1 5811124 5913621 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547687,nssv547688 M 443 0 2 "" HGDP00546,HGDP00550 nsv4041725 1 5815582 5815660 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852590 M 10847 0 1 "" nsv5426427 1 5815582 5815660 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905685 M 3202 0 1 "" nsv4461579 1 5821739 5821740 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024686 M 10847 1 0 "" nsv6326511 1 5826389 5828144 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061856 M 19652 0 1 "" esv3678593 1 5826781 5826857 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499938 M 20 0 1 "" nsv4039239 1 5827357 5828469 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852599 M 10847 0 1 "" esv3408840 1 5832758 5832777 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863671,essv7863672 M 185 2 0 "" NA12005,NA18871 nsv508723 1 5837275 6032008 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619765,nssv619764,nssv623770 M 4 2 0 MIR4689,NPHP4 NA10860,NA18994 nsv6335402 1 5837524 5838661 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061869 M 19652 0 1 "" nsv4517092 1 5838366 5842578 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852608 M 10847 0 1 "" nsv4035020 1 5844246 5845569 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852858 M 10847 0 1 "" nsv1113067 1 5855734 5855819 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967958 M 2 0 1 "" KWS2 nsv1120187 1 5855862 5855947 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960951 M 2 1 0 "" KWS1 esv3678628 1 5855881 5855984 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16499970 M 20 0 1 "" esv2737251 1 5855952 5856170 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6836177,essv6776920,essv6843870,essv6917408,essv6832584,essv6828989,essv6921698,essv6668917 M 96 0 8 "" SSM017,SSM018,SSM031,SSM067,SSM081,SSM082,SSM083,SSM085 nsv5961079 1 5855971 5855971 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17373416 M 914 1 0 "" nsv5868950 1 5856211 5856312 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375279 M 914 0 1 "" nsv3223034 1 5858776 5913084 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260709,nssv14260710,nssv14260715,nssv14260711,nssv14260713,nssv14260714,nssv14260712 M 9 7 0 "" HG00513,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv3533399 1 5861973 5861973 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374535,nssv14440044 M 9 2 0 "" HG00733,NA19240 nsv6317107 1 5862560 5866840 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061888 M 19652 0 1 "" nsv4039179 1 5862562 5866840 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853425 M 10847 0 1 "" esv2444036 1 5862653 5863401 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5245268 M 1 1 0 "" NA18507 nsv4444436 1 5862843 5862843 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759480 M 1 1 0 "" nsv4762026 1 5862909 5862909 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16280867 M 25 1 0 "" nsv3540100 1 5862913 5862913 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379961,nssv14413111 M 9 2 0 "" HG00514,NA19240 esv3668213 1 5862914 5862914 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490596 M 20 1 0 "" nsv3561839 1 5862914 5862914 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14301638,nssv14301637,nssv14301640,nssv14301634,nssv14301639,nssv14301635,nssv14301636 M 9 7 0 "" HG00512,HG00513,HG00514,HG00732,NA19238,NA19239,NA19240 nsv3931764 1 5862914 5862914 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190344 M 1 1 0 "" HG002 nsv5607985 1 5862914 5862914 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066011 M 35 1 0 "" HG00731 nsv5951097 1 5862914 5862914 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17384041 M 914 1 0 "" nsv6043167 1 5862914 5862914 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528213 M 405 1 0 "" nsv2802544 1 5862915 5862915 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13696825 M 2 1 0 "" nsv3324457 1 5862915 5862915 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483514,nssv14485895,nssv14473560,nssv14476205,nssv14477607,nssv14481076,nssv14475960,nssv14490440,nssv14488021,nssv14491377,nssv14484529,nssv14472382,nssv14488169,nssv14483439 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3058870 1 5862921 5862921 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033249 M 2 1 0 "" CHM1 nsv3536225 1 5862921 5862921 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387640 M 9 1 0 "" NA19240 nsv3535700 1 5862922 5862922 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440045,nssv14413112 M 9 2 0 "" HG00514,HG00733 nsv3054073 1 5862935 5862935 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025254 M 2 1 0 "" NA12878 nsv4461628 1 5865505 5865506 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024697 M 10847 1 0 "" dgv31e59 1 5868165 5870163 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3440591,esv3330767,esv3376026 M 185 3 0 "" NA19238,NA19239,NA19240 nsv1153099 1 5868199 5869800 CNV duplication John_et_al_2014 26484159 Sequencing nssv3998132 M 1 1 0 "" KWB1 esv2659247 1 5869340 5869558 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6234994,essv5502312,essv6125527,essv6235548,essv6334106,essv6478707,essv5679057,essv5580177,essv5905111,essv6094353,essv5681547,essv6166486,essv6556647,essv5403979,essv5968327,essv5892249,essv6263762,essv6285635,essv6146613,essv5753693,essv6555572,essv6067888,essv5826381,essv5407382,essv5594926,essv6369064,essv5497528,essv5678721,essv5404710,essv6244996,essv5414371,essv6288594,essv6139291,essv5624910,essv6125751,essv5704918,essv6120847,essv6486815,essv5610805,essv5795745,essv6086130,essv5411190,essv5450047,essv5592554,essv6518158,essv6404529,essv6189773,essv5853215,essv5662477,essv5699105,essv5618174,essv6110710,essv5507567,essv6320485,essv5595470,essv6594867,essv5735340,essv5441847,essv6505625,essv6107151,essv6391714,essv5415067,essv6420973,essv6558526,essv6144072,essv6482724,essv6374721,essv5732112,essv5438361,essv6427748,essv5724237,essv6190114,essv5586732,essv6123735,essv5530077,essv6266718,essv6142082,essv6388559,essv5572813,essv5477693,essv6224977,essv6594372,essv6375911,essv6444738,essv6440560,essv5808919,essv6392803,essv6021408,essv5612808,essv5668045,essv6300778,essv5695467,essv6090069,essv6481719,essv5596387,essv6137882,essv5557873,essv6372706,essv5544803,essv5635226,essv6268734,essv6023402,essv6080301,essv6342193,essv6106470,essv6040793,essv5894682,essv6094768,essv5554352,essv6171323,essv6477225,essv5793845,essv6096805,essv6564734,essv5790012,essv5963404,essv6492365,essv6072153,essv6075485,essv6237537,essv6287356,essv6189034,essv6291960,essv5760897,essv5467941,essv6072796,essv6420906,essv5462412,essv6270096,essv5662055,essv5791740,essv6000861,essv6417879,essv6391005,essv6011891,essv6066661,essv6479997,essv6471952,essv6465745,essv6053442,essv5484012,essv5665492,essv6263918,essv6178429,essv6138525,essv6508257,essv6363014,essv5744973,essv6323533,essv6592924,essv5527474,essv6273426,essv5476553,essv5839935,essv6378969,essv5914664,essv6174141,essv6582137,essv5934675,essv5843991,essv5745359,essv6387750,essv6196076,essv6360109,essv6045833,essv5399605,essv6587858,essv6309709,essv5714010,essv5934148,essv6501693,essv6406075,essv6217808,essv6109050,essv6200594,essv5971857,essv5813827,essv5966889,essv6265953,essv6020011,essv5733018,essv6276782,essv6393188,essv6137619,essv6574311,essv5505041,essv5713476,essv6278486,essv6166775,essv6303300,essv6111972,essv6375852,essv6549217,essv6563797,essv5630584,essv6391420,essv6543831,essv6335616,essv6318232,essv5635426,essv6383400,essv6444493,essv5937573,essv5908603,essv6245044,essv5453731,essv6108729,essv6096512,essv5438706,essv5485167,essv5630462,essv5836217,essv5422692,essv5899676,essv6493709,essv6246524,essv5631474,essv6344090,essv5694052,essv6183284,essv5858332,essv5997187,essv5580254,essv6144564,essv5559934,essv5844994,essv5752258,essv6080470,essv6198412,essv6330278,essv5659979,essv6451164,essv5885870,essv5495816,essv5729154,essv6137578,essv5930468,essv5849894,essv5650758,essv5406603,essv6416691,essv6558821,essv5797925,essv5937931,essv6389765,essv6481508,essv5440563,essv6189820,essv6192872,essv5660082,essv5484342,essv5601497,essv6394450,essv6022244,essv5427209,essv6006918,essv6348497,essv6021599,essv5637654,essv6385332,essv6236574,essv5400301,essv5861818,essv6202614,essv6021243 M 1151 0 265 "" HG00096,HG00114,HG00119,HG00120,HG00125,HG00137,HG00146,HG00149,HG00182,HG00188,HG00189,HG00233,HG00242,HG00244,HG00253,HG00254,HG00256,HG00265,HG00269,HG00271,HG00273,HG00284,HG00306,HG00308,HG00320,HG00327,HG00339,HG00343,HG00369,HG00372,HG00373,HG00418,HG00427,HG00442,HG00448,HG00475,HG00512,HG00524,HG00537,HG00551,HG00557,HG00565,HG00581,HG00608,HG00614,HG00626,HG00629,HG00635,HG00651,HG00657,HG00662,HG00689,HG00690,HG00692,HG00693,HG00701,HG00705,HG00707,HG00731,HG00732,HG00737,HG01048,HG01066,HG01067,HG01072,HG01073,HG01098,HG01101,HG01112,HG01124,HG01148,HG01149,HG01254,HG01334,HG01342,HG01357,HG01375,HG01389,HG01461,HG01465,HG01489,HG01497,NA07048,NA07051,NA07056,NA11830,NA11892,NA11893,NA11994,NA12003,NA12045,NA12046,NA12286,NA12340,NA12347,NA12383,NA12413,NA12546,NA12718,NA12748,NA12750,NA12775,NA12777,NA12778,NA12827,NA12829,NA12842,NA12889,NA18486,NA18487,NA18499,NA18516,NA18534,NA18538,NA18543,NA18544,NA18549,NA18553,NA18557,NA18564,NA18567,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18606,NA18610,NA18614,NA18616,NA18617,NA18620,NA18624,NA18633,NA18635,NA18638,NA18868,NA18940,NA18949,NA18950,NA18960,NA18963,NA18964,NA18982,NA18988,NA18991,NA18999,NA19004,NA19009,NA19010,NA19062,NA19074,NA19075,NA19077,NA19078,NA19079,NA19083,NA19085,NA19088,NA19102,NA19107,NA19130,NA19189,NA19198,NA19256,NA19313,NA19316,NA19319,NA19327,NA19328,NA19331,NA19350,NA19360,NA19373,NA19374,NA19377,NA19379,NA19380,NA19384,NA19394,NA19397,NA19401,NA19431,NA19434,NA19436,NA19438,NA19439,NA19440,NA19443,NA19445,NA19453,NA19455,NA19461,NA19462,NA19466,NA19470,NA19474,NA19657,NA19658,NA19716,NA19719,NA19722,NA19723,NA19749,NA19774,NA19780,NA19786,NA19819,NA19904,NA19920,NA20127,NA20282,NA20296,NA20332,NA20334,NA20344,NA20348,NA20506,NA20514,NA20516,NA20521,NA20533,NA20535,NA20540,NA20544,NA20581,NA20585,NA20757,NA20760,NA20769,NA20770,NA20771,NA20773,NA20774,NA20783,NA20785,NA20787,NA20790,NA20792,NA20795,NA20797,NA20798,NA20800,NA20801,NA20804,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20814,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828 esv2487333 1 5869360 5869500 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5391968 M 1 0 1 "" NA18507 esv2737362 1 5869423 5869682 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6877659,essv6874689 M 96 0 2 "" SSM092,SSM093 esv3678701 1 5873668 5873750 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500035 M 20 0 1 "" nsv5984451 1 5873671 5873730 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528389 M 405 0 1 "" nsv4444482 1 5876553 5876553 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759487 M 1 1 0 "" esv28776 1 5876593 5878094 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10860,esv18182,esv16704 M 40 0 7 "" NA07045,NA12006,NA12489,NA12878,NA18508,NA18523,NA19147 nsv545172 1 5876620 5877286 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708951 M 17421 0 1 "" nsv5566282 1 5876955 5877026 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066015 M 35 0 1 "" NA24385 nsv6056460 1 5876958 5876958 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526688 M 405 1 0 "" esv2737473 1 5876982 5877388 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6689249,essv6725838,essv6941765,essv6710564,essv6821161,essv6950533,essv6972307 M 96 0 7 "" SSM023,SSM025,SSM029,SSM036,SSM042,SSM046,SSM079 nsv5619336 1 5877025 5877025 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066016 M 35 1 0 "" HG03125 nsv6053625 1 5877077 5877077 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531545 M 405 1 0 "" nsv3324458 1 5877090 5877186 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489367,nssv14490147,nssv14487935,nssv14475516,nssv14485512,nssv14490302,nssv14478412 M 14 0 7 "" HG00514,HG01352,HG02059,HG02106,HX1,NA12878,NA19434 nsv3927428 1 5877168 5877240 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180777 M 1 0 1 "" HG002 nsv6327261 1 5877170 5877787 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202084 M 19652 1 0 "" nsv2801639 1 5877242 5877242 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682622 M 2 1 0 "" nsv3324017 1 5877242 5877242 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473781,nssv14488369,nssv14485501,nssv14484384,nssv14491335,nssv14485149,nssv14472089 M 14 7 0 "" CHM1,CHM13,HG00268,HG00733,HG02818,HG04217,NA19240 nsv6050240 1 5877268 5877268 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531359 M 405 1 0 "" nsv5612894 1 5877281 5877281 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066017 M 35 1 0 "" HG00731 nsv3541558 1 5877316 5877316 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374125,nssv14440046 M 9 2 0 "" HG00733,NA19240 nsv2802291 1 5877317 5877317 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690797 M 2 1 0 "" nsv5623723 1 5877331 5877331 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065465 M 35 1 0 "" HG00731 nsv6059872 1 5877331 5877331 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533085 M 405 1 0 "" nsv2802292 1 5877332 5877332 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695530 M 2 1 0 "" nsv3539137 1 5877357 5877357 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387067 M 9 1 0 "" NA19240 nsv3530529 1 5877360 5877360 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440047 M 9 1 0 "" HG00733 nsv3060821 1 5877366 5877366 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029360 M 2 1 0 "" CHM1 nsv3930856 1 5877446 5877520 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180778 M 1 0 1 "" HG002 nsv1076023 1 5877517 5877591 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764025 M 1 0 1 "" KWP1 nsv1145315 1 5877518 5877591 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982408 M 2 0 1 "" KWS1 dgv84n152 1 5877530 5877591 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3191382,nsv3197961 M 9 0 5 "" HG00512,HG00513,HG00514,HG00732,NA19239 nsv6330011 1 5883473 5883897 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061902 M 19652 0 1 "" nsv5718991 1 5885956 5885956 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17251891 M 3202 1 0 "" nsv3533447 1 5887945 5887945 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413113 M 9 1 0 "" HG00514 nsv3212668 1 5887945 5905871 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14269738,nssv14269739,nssv14269740 M 9 3 0 "" HG00512,HG00514,NA19240 nsv4444483 1 5889638 5889638 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759636 M 1 1 0 "" nsv3538416 1 5889833 5889833 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386616 M 9 1 0 "" NA19240 nsv4754887 1 5889839 5889839 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16264605 M 25 1 0 "" nsv3542246 1 5889866 5889866 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389832 M 9 1 0 "" NA19240 nsv3060822 1 5889892 5889892 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14016798 M 2 1 0 "" CHM1 esv3668250 1 5889904 5889904 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490629 M 20 1 0 "" nsv3541776 1 5889904 5889904 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440048,nssv14413114 M 9 2 0 "" HG00514,HG00733 nsv3926615 1 5889904 5889904 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190345 M 1 1 0 "" HG002 nsv5538340 1 5889904 5889904 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905688 M 3202 1 0 "" nsv5609025 1 5889904 5889904 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065470 M 35 1 0 "" HG00731 nsv5952160 1 5889904 5889904 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17371565 M 914 1 0 "" nsv6045015 1 5889904 5889904 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537399 M 405 1 0 "" nsv2802545 1 5889905 5889905 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677682,nssv13681048 M 2 2 0 "" nsv3056421 1 5889905 5889905 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029309 M 2 1 0 "" NA12878 nsv3325142 1 5889905 5889905 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487190,nssv14483836,nssv14477561,nssv14479681,nssv14484349,nssv14472651,nssv14487259,nssv14485596,nssv14484730,nssv14476706,nssv14481994,nssv14488257,nssv14480756,nssv14489863 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv831203 1 5890090 6027962 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442107,nssv1442096,nssv1442118 M 95 0 3 MIR4689,NPHP4 esv2494780 1 5892204 5892639 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5176671 M 1 1 0 "" NA18507 nsv4444484 1 5892308 5892308 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15760595 M 1 1 0 "" nsv6047707 1 5892308 5892308 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518680 M 405 1 0 "" nsv4041404 1 5892315 5892376 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964620 M 10847 1 0 "" nsv5984862 1 5892315 5892406 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17517722 M 405 1 0 "" nsv512712 1 5892315 5892438 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625336 M 1 1 0 "" 1 nsv3540385 1 5892318 5892318 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413115 M 9 1 0 "" HG00514 nsv3538253 1 5892319 5892319 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384277 M 9 1 0 "" NA19240 nsv3051730 1 5892322 5892322 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017600 M 2 1 0 "" NA12878 nsv4760863 1 5892327 5892327 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16270474 M 25 1 0 "" nsv2801641 1 5892328 5892328 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681281 M 2 1 0 "" nsv3324459 1 5892328 5892328 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472254,nssv14487386,nssv14482414,nssv14478619,nssv14475805 M 14 5 0 "" CHM1,HG01352,HG02818,NA19240,NA19434 nsv3535270 1 5892341 5892341 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440049 M 9 1 0 "" HG00733 nsv5615588 1 5892344 5892344 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065473 M 35 1 0 "" HG00731 nsv3533408 1 5892354 5892354 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384819 M 9 1 0 "" NA19240 nsv3953317 1 5892362 5892362 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190346 M 1 1 0 "" HG002 nsv5618138 1 5892362 5892362 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065474 M 35 1 0 "" NA19239 nsv6052751 1 5892362 5892362 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522835 M 405 1 0 "" nsv2802546 1 5892363 5892363 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692921 M 2 1 0 "" nsv3325143 1 5892363 5892363 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486673,nssv14487389,nssv14472363,nssv14480240,nssv14488997,nssv14481211,nssv14475755,nssv14490032,nssv14476982,nssv14473477,nssv14491000,nssv14489471,nssv14472807,nssv14476377 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1660216 1 5892367 5892367 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4159802 M 2 1 0 "" HuRef nsv2802293 1 5892374 5892374 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694740 M 2 1 0 "" nsv3542771 1 5892395 5892395 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440050,nssv14413117 M 9 2 0 "" HG00514,HG00733 nsv3531944 1 5892403 5892403 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377944 M 9 1 0 "" NA19240 nsv545173 1 5893451 6085353 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708952 M 17421 1 0 KCNAB2,MIR4689,NPHP4 nsv5984405 1 5898023 5899086 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520959 M 405 0 1 "" nsv4035584 1 5898541 5903975 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853431 M 10847 0 1 "" nsv6331436 1 5898541 5903975 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061908 M 19652 0 1 "" esv2764259 1 5898729 5903958 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004918,essv7004917 M 1109 0 2 "" RW_0235,RW_0272 nsv545174 1 5904718 6031944 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708953 M 17421 0 1 MIR4689,NPHP4 nsv4038274 1 5904954 5909112 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853450 M 10847 0 1 "" nsv518390 1 5906337 5913621 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv695820 M 2026 1 0 "" nsv3192205 1 5907891 5908281 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14303897,nssv14303896 M 9 0 2 "" NA19239,NA19240 nsv945754 1 5909049 5910925 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751340,nssv1751402,nssv1751342,nssv1751405,nssv1751349,nssv1751428,nssv1751341,nssv1751400,nssv1751348,nssv1751403,nssv1751424,nssv1751384,nssv1751418,nssv1751382,nssv1751369,nssv1751411,nssv1751354,nssv1751397,nssv1751346,nssv1751385,nssv1751421,nssv1751404,nssv1751360,nssv1751410,nssv1751355,nssv1751415,nssv1751345,nssv1751396,nssv1751352,nssv1751427,nssv1751364,nssv1751414,nssv1751347,nssv1751381,nssv1751359,nssv1751377,nssv1751350,nssv1751434,nssv1751420,nssv1751386,nssv1751366,nssv1751429,nssv1751367,nssv1751408,nssv1751368,nssv1751431,nssv1751423,nssv1751413,nssv1751416,nssv1751433,nssv1751365,nssv1751391,nssv1751343,nssv1751430,nssv1751373,nssv1751389,nssv1751353,nssv1751387,nssv1751362,nssv1751401,nssv1751375,nssv1751395,nssv1751422,nssv1751398,nssv1751361,nssv1751390,nssv1751374,nssv1751406,nssv1751351,nssv1751379,nssv1751357,nssv1751393,nssv1751339,nssv1751426,nssv1751376,nssv1751380,nssv1751356,nssv1751399,nssv1751417,nssv1751432,nssv1751363,nssv1751412,nssv1751419,nssv1751407,nssv1751358,nssv1751409,nssv1751371,nssv1751392,nssv1751372,nssv1751378,nssv1751425,nssv1751394,nssv1751370,nssv1751383,nssv1751344,nssv1751388,nssv1751435 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5867566 1 5923802 5923851 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17370743 M 914 0 1 NPHP4 nsv5429969 1 5923802 5923852 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905689 M 3202 0 1 NPHP4 esv2737584 1 5925252 5925705 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6821162,essv6843743,essv6828990,essv6721990 M 96 0 4 NPHP4 SSM011,SSM045,SSM079,SSM081 nsv4049348 1 5925255 5925723 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964624 M 10847 1 0 NPHP4 esv2737695 1 5925381 5925493 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6843743 M 96 0 1 NPHP4 SSM011 nsv5869665 1 5925464 5925513 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17379931 M 914 0 1 NPHP4 nsv4050073 1 5925528 5925625 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853460 M 10847 0 1 NPHP4 nsv4033146 1 5928368 5928694 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853470 M 10847 0 1 NPHP4 esv2737806 1 5928847 5929509 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6937658,essv6669099 M 96 0 2 NPHP4 SSM005,SSM022 nsv5984534 1 5928860 5929021 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527285 M 405 0 1 NPHP4 esv3663107 1 5929125 5929251 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16463528 M 20 0 0 NPHP4 nsv5675748 1 5929657 5929657 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203735 M 3202 1 0 NPHP4 nsv5405309 1 5929657 5929708 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905690 M 3202 1 0 NPHP4 nsv825586 1 5933761 5934633 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1423942 M 31 0 1 NPHP4 NA18582 esv3303661 1 5934286 5934287 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7772554,essv7789668,essv7804836,essv7804333,essv7803116,essv7833753,essv7795754,essv7821646,essv7824790,essv7812609,essv7783838,essv7791894,essv7800312,essv7835328,essv7835194,essv7800612,essv7777643,essv7771311,essv7776436,essv7806879,essv7819420,essv7816951,essv7802590,essv7812099,essv7797541,essv7770850,essv7811898,essv7823099,essv7787396,essv7790170,essv7790786,essv7779858,essv7778061,essv7805383,essv7815947,essv7786270,essv7779695,essv7816412,essv7816202,essv7791442 M 185 40 0 NPHP4 NA07000,NA07037,NA10847,NA11881,NA11918,NA11919,NA11992,NA11994,NA11995,NA12006,NA12043,NA12045,NA12144,NA12155,NA12156,NA12249,NA12716,NA12761,NA12812,NA12814,NA12815,NA12878,NA12891,NA12892,NA18499,NA18501,NA18502,NA18511,NA18517,NA18519,NA18523,NA18853,NA18858,NA18907,NA18916,NA19108,NA19114,NA19116,NA19137,NA19190 nsv3945579 1 5934288 5934288 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190677 M 1 1 0 NPHP4 HG002 nsv4444485 1 5934288 5934288 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757485 M 1 1 0 NPHP4 nsv5540909 1 5934288 5934288 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905691 M 3202 1 0 NPHP4 nsv5611309 1 5934288 5934288 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065482 M 35 1 0 NPHP4 NA24385 nsv5954280 1 5934288 5934288 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17379582 M 914 1 0 NPHP4 nsv6047182 1 5934288 5934288 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525808 M 405 1 0 NPHP4 nsv4537417 1 5934288 5934289 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024707 M 10847 1 0 NPHP4 nsv2801645 1 5934289 5934289 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687503 M 2 1 0 NPHP4 nsv3054074 1 5934289 5934289 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025423 M 2 1 0 NPHP4 NA12878 nsv3324023 1 5934289 5934289 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14480451,nssv14475607,nssv14481269 M 14 3 0 NPHP4 CHM13,NA12878,NA19434 esv3310166 1 5934290 5934291 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7839898,essv7841130,essv7840521 M 185 3 0 NPHP4 NA12878,NA12891,NA12892 esv3339145 1 5934293 5934303 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898505,essv8898489,essv8898516,essv8898488,essv8898499,essv8898508,essv8898495,essv8898507,essv8898491,essv8898509,essv8898493,essv8898518,essv8898506,essv8898517,essv8898487,essv8898498,essv8898519,essv8898515,essv8898494,essv8898485,essv8898511,essv8898500,essv8898497,essv8898484,essv8898502,essv8898490,essv8898486,essv8898510,essv8898496,essv8898513,essv8898501,essv8898504,essv8898512 M 185 33 0 NPHP4 NA07000,NA07037,NA10847,NA11881,NA11919,NA11992,NA11994,NA11995,NA12006,NA12043,NA12045,NA12144,NA12155,NA12156,NA12249,NA12716,NA12761,NA18499,NA18501,NA18502,NA18511,NA18517,NA18519,NA18523,NA18853,NA18858,NA18907,NA18916,NA19108,NA19114,NA19116,NA19137,NA19190 nsv4760168 1 5934297 5934297 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16286559 M 25 1 0 NPHP4 esv3427069 1 5934298 5934304 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674045,essv8674044,essv8674041 M 185 3 0 NPHP4 NA12878,NA12891,NA12892 esv3650556 1 5934301 5934301 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16474703 M 20 1 0 NPHP4 nsv5690405 1 5934301 5934301 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203584,nssv17204572 M 3202 2 0 NPHP4 nsv6241324 1 5934301 5934301 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17846175 M 1021 1 0 NPHP4 nsv4046388 1 5939851 5939909 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853475 M 10847 0 1 NPHP4 nsv5984865 1 5942267 5942322 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531973 M 405 0 1 NPHP4 nsv5984866 1 5942326 5942377 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519302 M 405 0 1 NPHP4 esv2737917 1 5944485 5944703 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6846990,essv6692746,essv6892305,essv6766527,essv6853210,essv6789130,essv6871702,essv6776922,essv6839956,essv6718151,essv6910022,essv6946477,essv6950534,essv6679147,essv6668918,essv6902515,essv6913982 M 96 0 17 NPHP4 SSM013,SSM015,SSM016,SSM024,SSM025,SSM031,SSM033,SSM037,SSM044,SSM064,SSM067,SSM070,SSM084,SSM086,SSM087,SSM091,SSM098 nsv3946405 1 5944508 5944557 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180897 M 1 0 1 NPHP4 HG002 nsv5984535 1 5944542 5944594 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535455 M 405 0 1 NPHP4 nsv5582550 1 5944543 5944639 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065483 M 35 0 1 NPHP4 HG02011 nsv5984867 1 5944630 5944684 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522644 M 405 0 1 NPHP4 esv3678820 1 5944692 5945123 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500142 M 20 0 1 NPHP4 nsv5984868 1 5944774 5945149 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520960 M 405 0 1 NPHP4 nsv4044696 1 5947024 5947076 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853483 M 10847 0 1 NPHP4 esv2763437 1 5948677 6018391 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7030745 M 1109 0 1 NPHP4 SW_1304 nsv831314 1 5949469 6123057 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442151,nssv1442140,nssv1442129,nssv1442162 M 95 0 4 KCNAB2,NPHP4 nsv1008071 1 5952243 6144538 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696763 M 11257 0 1 KCNAB2,NPHP4 nsv6322556 1 5959425 5986381 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18061931 M 19652 0 1 NPHP4 nsv6323952 1 5960870 5973966 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202093 M 19652 1 0 NPHP4 nsv743 1 5962129 6007387 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9178 M 9 0 1 NPHP4 NA12156 nsv5576007 1 5982736 5982843 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066145 M 35 0 1 NPHP4 NA19650 nsv5879796 1 5982736 5982843 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383791 M 914 0 1 NPHP4 nsv4461594 1 5988125 5988126 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025278 M 10847 1 0 NPHP4 nsv4045950 1 5988676 5991643 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853492 M 10847 0 1 NPHP4 nsv5984458 1 5988676 5991643 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537394 M 405 0 1 NPHP4 nsv4047053 1 5995970 5996180 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853503 M 10847 0 1 NPHP4 nsv4047653 1 5996000 6002000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853511 M 10847 0 1 NPHP4 nsv4044324 1 5999501 5999608 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964632 M 10847 1 0 NPHP4 esv3650692 1 6002647 6002647 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16474826 M 20 1 0 NPHP4 nsv4048973 1 6003482 6004578 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853522 M 10847 0 1 NPHP4 nsv545175 1 6007446 6053630 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708954 M 17421 0 1 KCNAB2,NPHP4 nsv4044530 1 6008066 6028437 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853530 M 10847 0 1 NPHP4 nsv4040560 1 6013412 6013523 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853538 M 10847 0 1 NPHP4 nsv5612922 1 6014654 6014654 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066150 M 35 1 0 NPHP4 HG03732 nsv3541677 1 6015929 6015929 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385741 M 9 1 0 NPHP4 NA19240 nsv3213689 1 6015929 6068232 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260736,nssv14260738,nssv14260741,nssv14260740,nssv14260743,nssv14260742,nssv14260739,nssv14260737 M 9 8 0 KCNAB2,NPHP4 HG00512,HG00513,HG00514,HG00731,HG00732,NA19238,NA19239,NA19240 nsv5984460 1 6017578 6017681 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521587 M 405 0 1 NPHP4 nsv6046870 1 6017599 6017599 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528570 M 405 1 0 NPHP4 nsv4741939 1 6017665 6017716 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16293202 M 25 0 1 NPHP4 nsv3282247 1 6017669 6017772 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14458278 M 9 0 1 NPHP4 HG00733 nsv3532971 1 6017836 6017836 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440051 M 9 1 0 NPHP4 HG00733 nsv4040038 1 6019563 6019640 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853548 M 10847 0 1 NPHP4 nsv5425566 1 6019563 6019640 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905717 M 3202 0 1 NPHP4 nsv5830274 1 6024569 6029591 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481087 M 914 0 0 NPHP4 nsv5876753 1 6025426 6029437 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382224 M 914 0 1 NPHP4 esv3585100 1 6031428 6041299 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845875,essv9845873,essv9845876,essv9845874 M 2504 0 4 NPHP4 HG00182,HG00306,HG02545,HG02577 nsv4050608 1 6031483 6041274 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852263 M 10847 0 1 NPHP4 nsv5430100 1 6031483 6041274 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905739 M 3202 0 1 NPHP4 nsv4048890 1 6031800 6031904 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852271 M 10847 0 1 NPHP4 nsv5423063 1 6031800 6031904 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905750 M 3202 0 1 NPHP4 dgv9e212 1 6035053 6044155 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577712,esv3577711 M 873 0 19 NPHP4 400106PC,400368SD,400547BS,400620MT,400926LJ,400948EV,400949AM,401259LS,401295HB,401318AV,401354KM,401623SN,401630MK,401646MC,401661HD,401734PG,401899MB,401935TM,401975VD nsv4049941 1 6035504 6048655 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852279 M 10847 0 1 NPHP4 nsv506919 1 6035606 6041606 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623262 M 4 0 0 NPHP4 NA18994 nsv3225664 1 6036908 6068232 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14273411 M 9 1 0 KCNAB2,NPHP4 HG00514 esv3395207 1 6037353 6038029 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652093 M 185 1 0 NPHP4 NA19240 esv33437 1 6037569 6038037 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv92517,essv101040,essv94307,essv97100,essv94798,essv93510,essv97813,essv94480,essv100607,essv93021,essv92840,essv99200,essv95744,essv101160 M 51 14 0 NPHP4 21618,21693,21791,21808,21837,21841,21863,21932,21939,22075,22128,22233,22275,22298 nsv4753445 1 6037897 6037897 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16293902 M 25 1 0 NPHP4 nsv5984539 1 6037897 6037990 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17526363 M 405 1 0 NPHP4 esv3373910 1 6037913 6038098 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808973 M 185 1 0 NPHP4 NA12878 nsv3532186 1 6037964 6037964 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413118,nssv14440053 M 9 2 0 NPHP4 HG00514,HG00733 nsv3927281 1 6037964 6037964 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190682 M 1 1 0 NPHP4 HG002 nsv5613771 1 6037964 6037964 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065880,nssv17065881 M 35 2 0 NPHP4 HG00731,NA19983 nsv6049190 1 6037964 6037964 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534794 M 405 1 0 NPHP4 nsv2801987 1 6037965 6037965 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683011 M 2 1 0 NPHP4 nsv2802548 1 6037967 6037967 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684106 M 2 1 0 NPHP4 nsv3325149 1 6037967 6037967 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478238,nssv14479045,nssv14474037,nssv14491861,nssv14473561,nssv14485914,nssv14474391,nssv14490265,nssv14477948,nssv14475354,nssv14491657 M 14 11 0 NPHP4 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,HG04217,NA19240,NA19434 nsv4036129 1 6038089 6054530 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964648 M 10847 1 0 KCNAB2,NPHP4 nsv4039609 1 6038362 6038425 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852289 M 10847 0 1 NPHP4 nsv5424224 1 6040890 6040944 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905772 M 3202 1 0 NPHP4 nsv520207 1 6042934 6046264 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697281 M 2026 0 1 NPHP4 nsv4034942 1 6043000 6072000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964656 M 10847 1 0 KCNAB2,NPHP4 nsv5714547 1 6051033 6051033 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17242845 M 3202 1 0 NPHP4 nsv4572905 1 6051033 6051034 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025289 M 10847 1 0 NPHP4 nsv5559254 1 6051051 6051084 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905783 M 3202 1 0 NPHP4 nsv953994 1 6053001 6121400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001623 M 1 0 1 KCNAB2 BILGI_BIOE nsv1008999 1 6056168 6154729 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482459 M 11257 1 0 KCNAB2 nsv5872504 1 6060003 6060107 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384102 M 914 0 1 KCNAB2 nsv4037555 1 6060010 6060181 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852614 M 10847 0 1 KCNAB2 nsv4043651 1 6060034 6060100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852623 M 10847 0 1 KCNAB2 nsv3198233 1 6062080 6068232 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255333,nssv14255334 M 9 0 2 KCNAB2 HG00513,HG00732 nsv3182265 1 6064062 6067742 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14437840,nssv14437839 M 9 0 0 KCNAB2 HG00514 esv2470104 1 6064711 6066988 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5382298 M 1 0 1 KCNAB2 NA18507 esv22772 1 6064750 6066933 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv15196,esv19261,esv17376 M 40 27 1 KCNAB2 NA06985,NA07037,NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12287,NA12414,NA12749,NA12828,NA12878,NA15510,NA18505,NA18508,NA18511,NA18517,NA18858,NA18861,NA18909,NA18916,NA19099,NA19114,NA19147,NA19190,NA19225,NA19240 esv2738028 1 6064778 6065911 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6843871,essv6821163,essv6853211,essv6906089,essv6846991,essv6738796,essv6863937,essv6954715,essv6898594,essv6941766,essv6789131,essv6668919,essv6733470,essv6961533,essv6721991,essv6972308,essv6686144,essv6816568 M 96 0 18 KCNAB2 SSM014,SSM023,SSM026,SSM027,SSM029,SSM031,SSM035,SSM045,SSM049,SSM052,SSM070,SSM078,SSM079,SSM085,SSM086,SSM087,SSM089,SSM100 nsv4041607 1 6064986 6065439 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964665 M 10847 1 0 KCNAB2 nsv3325151 1 6064998 6064998 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478352 M 14 1 0 KCNAB2 NA12878 nsv4732412 1 6065001 6065122 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16280243 M 25 0 1 KCNAB2 nsv6138618 1 6065015 6065081 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905785 M 3202 1 0 KCNAB2 nsv3325152 1 6065016 6065094 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472994 M 14 0 1 KCNAB2 HG02818 nsv5885874 1 6065018 6065493 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17370980 M 914 0 1 KCNAB2 nsv5583275 1 6065020 6065098 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065890 M 35 0 1 KCNAB2 HG02818 nsv6040504 1 6065022 6065022 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518453 M 405 1 0 KCNAB2 nsv3934123 1 6065023 6065181 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180898 M 1 0 1 KCNAB2 HG002 nsv5984465 1 6065027 6065134 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532983 M 405 0 1 KCNAB2 nsv5570078 1 6065042 6065239 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065891 M 35 0 1 KCNAB2 HG00512 esv3567536 1 6065094 6065428 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9766283 M 767 0 1 KCNAB2 nsv3179111 1 6065100 6065179 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14463049 M 9 0 0 KCNAB2 HG00733 dgv65n54 1 6065112 6065814 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545176,nsv545177,nsv545178 M 17421 0 4 KCNAB2 dgv66n54 1 6065112 6066099 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545180,nsv545179,nsv545191 M 17421 3 0 KCNAB2 dgv67n54 1 6065112 6066252 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545183,nsv545181,nsv545182,nsv545193,nsv545192 M 17421 0 6 KCNAB2 nsv545186 1 6065112 6066620 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708971,nssv708970 M 17421 1 1 KCNAB2 dgv68n54 1 6065112 6066636 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545204,nsv545185,nsv545184,nsv545188,nsv545187,nsv545195,nsv545194 M 17421 19 0 KCNAB2 nsv5874272 1 6065120 6065397 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374576 M 914 0 1 KCNAB2 nsv6138913 1 6065120 6065400 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905787 M 3202 0 1 KCNAB2 nsv5619676 1 6065129 6065129 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065892 M 35 1 0 KCNAB2 HG03125 nsv3325153 1 6065131 6065249 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478572 M 14 0 1 KCNAB2 HG01352 nsv2802549 1 6065131 6065408 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13688547 M 2 0 1 KCNAB2 nsv3324030 1 6065131 6065408 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484759,nssv14476383 M 14 0 2 KCNAB2 CHM1,HG00514 nsv3280622 1 6065138 6065218 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377048 M 9 0 1 KCNAB2 NA19240 nsv3325154 1 6065175 6065175 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488613 M 14 1 0 KCNAB2 HG02818 nsv6059144 1 6065184 6065184 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534665 M 405 1 0 KCNAB2 nsv3325155 1 6065240 6065240 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475466 M 14 1 0 KCNAB2 HG02818 nsv5566297 1 6065256 6065493 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065893 M 35 0 1 KCNAB2 HG00731 esv3686093 1 6065256 6065496 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16464027 M 20 0 0 KCNAB2 nsv6058294 1 6065271 6065271 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522682 M 405 1 0 KCNAB2 dgv69n54 1 6065272 6065872 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545189,nsv545190 M 17421 2 0 KCNAB2 nsv545196 1 6065272 6067640 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708990,nssv708989 M 17421 0 2 KCNAB2 nsv3325432 1 6065293 6065450 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485965,nssv14490809,nssv14477370,nssv14482184,nssv14484184,nssv14481377,nssv14488897 M 14 0 7 KCNAB2 HG00268,HG00514,HG00733,HG02059,HX1,NA12878,NA19434 nsv159264 1 6065293 6065490 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177842 M 24 KCNAB2 nsv5984466 1 6065298 6065482 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535802 M 405 0 1 KCNAB2 dgv70n54 1 6065323 6066636 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545203,nsv545202,nsv545201,nsv545197 M 17421 0 5 KCNAB2 nsv5573228 1 6065364 6065441 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065894 M 35 0 1 KCNAB2 HG03125 nsv3065303 1 6065366 6065443 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14037686 M 2 0 1 KCNAB2 CHM1 nsv5610816 1 6065368 6065368 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065895 M 35 1 0 KCNAB2 HG00732 nsv2802294 1 6065369 6065369 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685809 M 2 1 0 KCNAB2 nsv3324031 1 6065369 6065369 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481042,nssv14488623 M 14 2 0 KCNAB2 CHM13,HG02818 nsv6059382 1 6065374 6065374 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520197 M 405 1 0 KCNAB2 nsv3531140 1 6065376 6065376 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440054 M 9 1 0 KCNAB2 HG00733 nsv3535271 1 6065404 6065404 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378332 M 9 1 0 KCNAB2 NA19240 nsv3324467 1 6065405 6065405 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472262 M 14 1 0 KCNAB2 NA19240 nsv6043899 1 6065410 6065410 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524430 M 405 1 0 KCNAB2 nsv3325156 1 6065411 6065489 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478749,nssv14475843 M 14 0 2 KCNAB2 HG01352,HG02818 nsv545199 1 6065426 6066047 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv708993 M 17421 0 1 KCNAB2 dgv71n54 1 6065426 6066099 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545198,nsv545200 M 17421 2 0 KCNAB2 nsv2802550 1 6065435 6065435 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677005 M 2 1 0 KCNAB2 nsv3325433 1 6065435 6065435 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475736,nssv14490767 M 14 2 0 KCNAB2 CHM13,HG02818 nsv3538457 1 6065440 6065440 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440055 M 9 1 0 KCNAB2 HG00733 nsv2802551 1 6065483 6065483 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694047 M 2 1 0 KCNAB2 nsv2801648 1 6065493 6065493 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681711 M 2 1 0 KCNAB2 nsv3325434 1 6065493 6065493 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488438,nssv14475691,nssv14477409 M 14 3 0 KCNAB2 CHM1,CHM13,HG00514 nsv3944901 1 6065493 6065493 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190683 M 1 1 0 KCNAB2 HG002 nsv5949594 1 6065494 6065494 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17370244 M 914 1 0 KCNAB2 nsv5614383 1 6065495 6065495 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065896 M 35 1 0 KCNAB2 NA24385 nsv5566647 1 6065554 6066615 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065897 M 35 0 1 KCNAB2 HG03486 nsv545205 1 6065639 6066303 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709001 M 17421 1 0 KCNAB2 dgv72n54 1 6065639 6066636 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545207,nsv545206,nsv545209,nsv545208,nsv545211 M 17421 0 6 KCNAB2 nsv545210 1 6065749 6066636 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709007,nssv709008 M 17421 2 0 KCNAB2 esv7234 1 6065791 6066777 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29675 M 1 0 0 KCNAB2 nsv511675 1 6065857 6066800 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626313 M 1 0 1 KCNAB2 1 esv2738139 1 6065880 6066099 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6718787 M 96 0 1 KCNAB2 SSM007 esv2738250 1 6065929 6066616 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863938,essv6839957,essv6843872,essv6929045,essv6853212,essv6954716,essv6895834,essv6773422,essv6714226,essv6780849,essv6696980,essv6836178,essv6725839,essv6666885,essv6941767,essv6789133,essv6967912,essv6910023,essv6679148,essv6921699,essv6769505,essv6797433,essv6793267,essv6913984,essv6824966,essv6950073,essv6807360,essv6913983 M 96 0 27 KCNAB2 SSM004,SSM015,SSM016,SSM018,SSM020,SSM023,SSM026,SSM028,SSM030,SSM033,SSM038,SSM043,SSM046,SSM065,SSM066,SSM068,SSM070,SSM071,SSM072,SSM075,SSM080,SSM083,SSM084,SSM085,SSM087,SSM089,SSM099 nsv545212 1 6065930 6066466 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709010 M 17421 0 1 KCNAB2 nsv5620278 1 6065949 6065949 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065898 M 35 1 0 KCNAB2 HG00513 nsv5882468 1 6065949 6066106 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386014 M 914 0 1 KCNAB2 nsv2801649 1 6065950 6065950 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693451 M 2 1 0 KCNAB2 nsv3324032 1 6065950 6065950 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488766 M 14 1 0 KCNAB2 CHM1 nsv3324468 1 6065950 6066186 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473367 M 14 0 1 KCNAB2 HG02059 nsv4748950 1 6065959 6066381 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285119 M 25 0 1 KCNAB2 nsv5984873 1 6065964 6066046 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529701 M 405 0 1 KCNAB2 nsv3325435 1 6065982 6066060 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484545,nssv14486167 M 14 0 2 KCNAB2 HG00268,HG02818 dgv73n54 1 6065986 6066636 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545214,nsv545213,nsv545216,nsv545215,nsv545219,nsv545221,nsv545220 M 17421 73 40 KCNAB2 nsv545217 1 6065986 6067640 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709089,nssv709090 M 17421 2 0 KCNAB2 dgv74n54 1 6065986 6080378 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545218,nsv545227,nsv545223 M 17421 3 0 KCNAB2 nsv5879916 1 6065991 6066547 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17378881 M 914 0 1 KCNAB2 nsv6053570 1 6066029 6066029 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533443 M 405 1 0 KCNAB2 nsv5616135 1 6066036 6066036 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065899 M 35 1 0 KCNAB2 NA24385 nsv545222 1 6066047 6067640 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709127 M 17421 0 1 KCNAB2 nsv545224 1 6066099 6066620 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709130,nssv709129 M 17421 0 2 KCNAB2 nsv511127 1 6066099 6070870 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626143 M 1 0 1 KCNAB2 1 nsv2802552 1 6066102 6066102 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684091 M 2 1 0 KCNAB2 nsv3325436 1 6066102 6066102 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488725 M 14 1 0 KCNAB2 CHM1 nsv3187822 1 6066107 6066176 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382315 M 9 0 0 KCNAB2 NA19240 nsv3939311 1 6066116 6066614 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180899 M 1 0 1 KCNAB2 HG002 nsv3056422 1 6066125 6066125 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019347 M 2 1 0 KCNAB2 NA12878 nsv3325157 1 6066134 6066134 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491765 M 14 1 0 KCNAB2 HG00514 nsv5567060 1 6066139 6066228 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065900 M 35 0 1 KCNAB2 NA19239 nsv4043501 1 6066142 6066665 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964682 M 10847 1 0 KCNAB2 nsv3325437 1 6066148 6066267 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487549,nssv14477492 M 14 0 2 KCNAB2 HG00268,HG02818 nsv545225 1 6066150 6066636 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709132,nssv709131,nssv709134,nssv709133 M 17421 4 0 KCNAB2 nsv3325158 1 6066179 6066376 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491635,nssv14475333 M 14 0 2 KCNAB2 HG02106,NA19240 nsv6047064 1 6066181 6066181 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527276 M 405 1 0 KCNAB2 nsv5871118 1 6066185 6066771 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17389287 M 914 0 1 KCNAB2 nsv6320436 1 6066211 6066631 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062040 M 19652 0 1 KCNAB2 nsv3325438 1 6066218 6066218 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478240 M 14 1 0 KCNAB2 HG00514 nsv3280480 1 6066220 6066299 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14453028,nssv14388071 M 9 0 2 KCNAB2 HG00733,NA19240 nsv2801650 1 6066222 6066299 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13696453 M 2 0 1 KCNAB2 nsv3325159 1 6066222 6066299 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488562,nssv14486164,nssv14480774,nssv14472976 M 14 0 4 KCNAB2 CHM13,HG00733,HX1,NA19434 nsv5564755 1 6066234 6066573 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065901 M 35 0 1 KCNAB2 HG00731 nsv5608934 1 6066245 6066245 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065902 M 35 1 0 KCNAB2 HG00096 nsv6138790 1 6066253 6066574 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905789 M 3202 0 1 KCNAB2 nsv3325439 1 6066259 6066259 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480761 M 14 1 0 KCNAB2 HG00514 nsv545226 1 6066303 6066620 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709136,nssv709135,nssv709138,nssv709137 M 17421 0 4 KCNAB2 nsv3173092 1 6066336 6066417 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439098 M 9 0 0 KCNAB2 HG00733 nsv3325160 1 6066337 6066416 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480392,nssv14478987 M 14 0 2 KCNAB2 HG00733,HG01352 nsv2802553 1 6066338 6066338 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676905 M 2 1 0 KCNAB2 nsv3324469 1 6066338 6066338 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474070,nssv14477611 M 14 2 0 KCNAB2 CHM1,HG00514 esv3687693 1 6066347 6066650 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16464171 M 20 0 0 KCNAB2 nsv6055180 1 6066378 6066378 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519529 M 405 1 0 KCNAB2 nsv5426017 1 6066378 6066437 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905790 M 3202 1 0 KCNAB2 nsv3325440 1 6066416 6066496 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482877 M 14 0 1 KCNAB2 NA19434 nsv2801651 1 6066432 6066432 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680847 M 2 1 0 KCNAB2 nsv3325161 1 6066432 6066432 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478141 M 14 1 0 KCNAB2 CHM1 esv2738362 1 6066454 6066621 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6972309 M 96 0 1 KCNAB2 SSM029 nsv545228 1 6066466 6066620 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709140 M 17421 0 1 KCNAB2 nsv5583018 1 6066467 6066608 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065903 M 35 0 1 KCNAB2 HG00731 nsv2802295 1 6066469 6066690 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13693896 M 2 0 1 KCNAB2 nsv3324033 1 6066469 6066690 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489155,nssv14478490,nssv14490301,nssv14483957,nssv14473822,nssv14490169,nssv14483684 M 14 0 7 KCNAB2 CHM13,HG00268,HG01352,HG02059,HG02106,HG02818,HX1 nsv3324034 1 6066490 6066490 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481348,nssv14481799 M 14 2 0 KCNAB2 HG00514,NA12878 nsv5620210 1 6066495 6066495 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065905 M 35 1 0 KCNAB2 HG00513 nsv3281657 1 6066534 6066717 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439446 M 9 0 1 KCNAB2 HG00733 nsv3282257 1 6066537 6066600 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439814 M 9 0 1 KCNAB2 HG00733 nsv5580797 1 6066551 6066613 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065907 M 35 0 1 KCNAB2 HG03683 nsv3324470 1 6066552 6066614 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491043,nssv14485856 M 14 0 2 KCNAB2 HG00733,NA19434 nsv6041975 1 6066559 6066559 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518236 M 405 1 0 KCNAB2 nsv5618357 1 6066560 6066560 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065909,nssv17065910 M 35 2 0 KCNAB2 HG00512,NA18534 nsv6054704 1 6066560 6066560 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537049 M 405 1 0 KCNAB2 nsv2801653 1 6066561 6066561 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693987 M 2 1 0 KCNAB2 nsv3324471 1 6066561 6066561 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479877,nssv14479638 M 14 2 0 KCNAB2 CHM1,HG00514 nsv3189824 1 6066562 6066615 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375283 M 9 0 0 KCNAB2 NA19240 nsv4517105 1 6066575 6066638 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964698 M 10847 1 0 KCNAB2 nsv3325443 1 6066599 6066599 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472035 M 14 1 0 KCNAB2 HG00514 nsv6049909 1 6066615 6066615 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523654 M 405 1 0 KCNAB2 nsv3325162 1 6066635 6066635 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485963 M 14 1 0 KCNAB2 HG00514 nsv3325444 1 6066638 6066718 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478876,nssv14486571,nssv14485707 M 14 0 3 KCNAB2 HG00733,HX1,NA19434 nsv6054744 1 6066656 6066656 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527763 M 405 1 0 KCNAB2 nsv3324472 1 6066678 6066797 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484280,nssv14487360 M 14 0 2 KCNAB2 HG02818,NA19434 nsv2801989 1 6066681 6066681 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688401 M 2 1 0 KCNAB2 nsv3324035 1 6066681 6066681 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478529,nssv14484010,nssv14472480 M 14 3 0 KCNAB2 CHM1,HG00514,NA19240 nsv6042016 1 6066718 6066718 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535698 M 405 1 0 KCNAB2 nsv6047329 1 6066722 6066722 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524447 M 405 1 0 KCNAB2 esv2738473 1 6066728 6066907 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6813156 M 96 0 1 KCNAB2 SSM077 nsv3325445 1 6066730 6066730 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474704 M 14 1 0 KCNAB2 HG00514 nsv3324473 1 6066752 6066752 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483255 M 14 1 0 KCNAB2 HG00514 nsv4046473 1 6071787 6097992 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852643 M 10847 0 1 KCNAB2 esv2738584 1 6072125 6072956 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6784978,essv6846992,essv6668920,essv6885973,essv6703848,essv6776923,essv6733471,essv6933292,essv6972310 M 96 0 9 KCNAB2 SSM021,SSM029,SSM031,SSM040,SSM049,SSM067,SSM069,SSM086,SSM096 esv2668412 1 6072194 6072560 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5695092,essv5865050,essv5588220,essv5528295,essv5886683,essv5520884,essv5922487,essv6335002,essv5563282,essv6501198,essv5636685,essv6129318,essv5877569,essv6544636,essv6255474,essv6237773,essv6188297 M 1151 0 17 KCNAB2 HG00284,HG00328,HG00342,HG00437,HG00543,HG01133,HG01357,HG01390,NA18572,NA18924,NA19374,NA19379,NA19391,NA19428,NA19746,NA19786,NA20314 nsv5608227 1 6072195 6072195 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065916 M 35 1 0 KCNAB2 NA19650 esv2671721 1 6072195 6072792 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5575680,essv6336381,essv5467304,essv6139989,essv6107623,essv5617548,essv6126277,essv5679535,essv5707787,essv6505577,essv6106545,essv5432446,essv5928633,essv5774618,essv6464469,essv5454081,essv6080909,essv6297659,essv6548910,essv6439716,essv5673767,essv5645205,essv5788966,essv6493493,essv6376855,essv5475755,essv6081217,essv5998533,essv5636110,essv6372612,essv6532235,essv5459906,essv5880362,essv5474868,essv5552528,essv6491505,essv6248870,essv5837146,essv6165747,essv6397243,essv6142865,essv6168202,essv5691431,essv6157504,essv6380438,essv6490716,essv6482164,essv5645214,essv6072292,essv5997402,essv5637574,essv6103095,essv5489757,essv6567015,essv5843395,essv6345185,essv5402741,essv6588591,essv5669584,essv6155134,essv5705359,essv6480699,essv6397638,essv6573525,essv6349389,essv6210340,essv6057781,essv6146458,essv6382629,essv6448961,essv5788028,essv5509769,essv6297003,essv6114052,essv6062214,essv5497657,essv6498118,essv5587867,essv5943253,essv5512966,essv5424572,essv6416025,essv5445107,essv6304897,essv6072530,essv6497354,essv6060604,essv5605963,essv5545770,essv5932588,essv5971083,essv6269635,essv6229880,essv5764384,essv6501200,essv5665100,essv5611477,essv6433245,essv6139787,essv6020546,essv6118327,essv6409198,essv5946793,essv5633336,essv6103012,essv5613898,essv6513052,essv5996087,essv5632013,essv6165749,essv6540799,essv6429236,essv5983105,essv6206244,essv6265889,essv6261806,essv5836894,essv6141669,essv5425976,essv5674310,essv5845242,essv6447871,essv5883448,essv5907730,essv6377173,essv5677246,essv5800765,essv6592445,essv6334902,essv6541060,essv6298507,essv6259723,essv5753506,essv6465287,essv5413546,essv5884490,essv6227383,essv6040350,essv5460614,essv6282855,essv5752732,essv5407413,essv6192880,essv5757120,essv6088037,essv6261835,essv5469579,essv5415000,essv6148521,essv6223880,essv6148472,essv6427608,essv5930850,essv6068361,essv5428863,essv5655454,essv6442096,essv5871453,essv5616878,essv6223863,essv5842204,essv5889228,essv5402443,essv6371370,essv5396217,essv6200679,essv6551773,essv5714136,essv5978133,essv5621908,essv6113253,essv5958284,essv5995311,essv5965967,essv5730880,essv5742080,essv6473009,essv6020623,essv5657029,essv6282381,essv5617025,essv6195668,essv5407886,essv5714321,essv6204063,essv5406403,essv6553754,essv6506890,essv6594356,essv6393423,essv5881206,essv5918927,essv6399264,essv6008020,essv6586272,essv6119926,essv6580197,essv6255955,essv5531345,essv6187079,essv6094817,essv5513983,essv5864460,essv6361399,essv6508076,essv6452048,essv6128759,essv5909974,essv6112224,essv5416587,essv6216628,essv6529368,essv6585620,essv6492760,essv6138404,essv6376345,essv5941011,essv6061149,essv5474452,essv6055531,essv5829542,essv5740671,essv5724721,essv5558169,essv6086953,essv6073435,essv6502693,essv5453827,essv5506435,essv6429959,essv6437441,essv6556052,essv6217674,essv6121818,essv6164111,essv5909976,essv5746389,essv5569094,essv6169655,essv5845916,essv6514803,essv6129056,essv5767011,essv5415051 M 1151 0 244 KCNAB2 HG00108,HG00111,HG00123,HG00124,HG00125,HG00131,HG00136,HG00137,HG00138,HG00139,HG00140,HG00142,HG00154,HG00232,HG00236,HG00237,HG00246,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00260,HG00261,HG00271,HG00272,HG00273,HG00274,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00309,HG00310,HG00313,HG00315,HG00318,HG00319,HG00320,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00330,HG00334,HG00335,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00375,HG00418,HG00427,HG00428,HG00436,HG00437,HG00443,HG00449,HG00463,HG00464,HG00473,HG00479,HG00500,HG00501,HG00512,HG00513,HG00525,HG00533,HG00534,HG00537,HG00543,HG00557,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00650,HG00651,HG00654,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00707,HG00708,HG00740,HG01048,HG01051,HG01052,HG01055,HG01060,HG01066,HG01067,HG01070,HG01072,HG01073,HG01079,HG01080,HG01082,HG01083,HG01102,HG01108,HG01113,HG01170,HG01171,HG01173,HG01174,HG01188,HG01334,HG01350,HG01351,HG01353,HG01354,HG01359,HG01365,HG01366,HG01377,HG01383,HG01390,HG01437,HG01488,HG01518,NA11831,NA12154,NA12249,NA18530,NA18534,NA18543,NA18549,NA18557,NA18559,NA18602,NA18606,NA18609,NA18613,NA18620,NA18621,NA18623,NA18632,NA18636,NA18638,NA19190,NA19197,NA19223,NA19324,NA19376,NA19379,NA19383,NA19385,NA19394,NA19401,NA19404,NA19428,NA19436,NA19452,NA19457,NA19463,NA19648,NA19651,NA19652,NA19654,NA19655,NA19657,NA19660,NA19661,NA19663,NA19664,NA19675,NA19676,NA19678,NA19679,NA19681,NA19682,NA19684,NA19685,NA19712,NA19716,NA19717,NA19719,NA19720,NA19723,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19746,NA19749,NA19750,NA19755,NA19756,NA19758,NA19759,NA19762,NA19770,NA19773,NA19774,NA19776,NA19779,NA19780,NA19782,NA19785,NA19788,NA19789,NA19818,NA19920,NA20126,NA20296,NA20322,NA20356 esv2738695 1 6072233 6072569 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6784978,essv6703848 M 96 0 2 KCNAB2 SSM040,SSM069 nsv5571631 1 6072337 6072580 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065917 M 35 0 1 KCNAB2 HG00513 nsv3930073 1 6072337 6072581 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180900 M 1 0 1 KCNAB2 HG002 esv3678942 1 6072337 6072582 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500252 M 20 0 1 KCNAB2 nsv3279750 1 6072344 6072588 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388319,nssv14438172,nssv14439190 M 9 0 3 KCNAB2 HG00514,HG00733,NA19240 nsv4737606 1 6072347 6072468 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16280917 M 25 0 1 KCNAB2 nsv2802554 1 6072351 6072594 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13708416 M 2 0 1 KCNAB2 nsv3325446 1 6072351 6072594 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473328,nssv14483410,nssv14474884,nssv14489273,nssv14480413,nssv14478192,nssv14481294,nssv14484858 M 14 0 8 KCNAB2 CHM1,CHM13,HG00514,HG00733,HG02818,HG04217,NA12878,NA19240 esv2738806 1 6072373 6072632 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6776923,essv6846992,essv6668920,essv6885973,essv6933292,essv6972310 M 96 0 6 KCNAB2 SSM021,SSM029,SSM031,SSM067,SSM086,SSM096 nsv5571128 1 6072392 6072461 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065918 M 35 0 1 KCNAB2 HG00731 nsv3944410 1 6072511 6072633 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180904 M 1 0 1 KCNAB2 HG002 nsv5984467 1 6072518 6072609 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526776 M 405 0 1 KCNAB2 nsv3325447 1 6072545 6072596 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483972 M 14 0 1 KCNAB2 HG04217 nsv5574639 1 6072581 6072632 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065919 M 35 0 1 KCNAB2 HG00731 nsv4033708 1 6077000 6127000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15964706 M 10847 1 0 KCNAB2 dgv27n106 1 6081500 6082800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1115333,nsv1132278 M 2 2 0 KCNAB2 KWS1,KWS2 esv3650978 1 6081866 6081866 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475084 M 20 1 0 KCNAB2 nsv5609931 1 6081866 6081866 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065922 M 35 1 0 KCNAB2 HG02818 nsv4517835 1 6081898 6082127 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852662 M 10847 0 1 KCNAB2 nsv6042654 1 6081920 6081920 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533014 M 405 1 0 KCNAB2 nsv4757027 1 6081932 6081932 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16283501 M 25 1 0 KCNAB2 nsv3325449 1 6081968 6081968 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476801 M 14 1 0 KCNAB2 HG04217 nsv6316269 1 6081989 6082638 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062065 M 19652 0 1 KCNAB2 esv2738917 1 6085713 6086177 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6839958,essv6804391,essv6910024 M 96 0 3 KCNAB2 SSM015,SSM074,SSM084 nsv5618044 1 6085896 6085896 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065923 M 35 1 0 KCNAB2 HG02818 nsv5882287 1 6085900 6085967 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386521 M 914 0 1 KCNAB2 nsv5568562 1 6085900 6085984 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067202 M 35 0 1 KCNAB2 NA12329 nsv1122288 1 6085900 6085985 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969739 M 2 0 1 KCNAB2 KWS2 nsv3324038 1 6085902 6085952 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486772,nssv14480175 M 14 0 2 KCNAB2 HG02059,HG04217 nsv4750074 1 6085914 6085967 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270661 M 25 0 1 KCNAB2 nsv5984541 1 6085916 6085968 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533195 M 405 0 1 KCNAB2 nsv6041910 1 6085942 6085942 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524414 M 405 1 0 KCNAB2 nsv1126971 1 6090528 6090587 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985259 M 2 0 1 KCNAB2 KWS1 nsv4041535 1 6093369 6094010 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852670 M 10847 0 1 KCNAB2 nsv5871790 1 6097911 6098226 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380192 M 914 0 1 KCNAB2 nsv5978802 1 6100400 6101096 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17375118 M 914 0 0 KCNAB2 esv2739028 1 6103291 6103397 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6699586 M 96 0 1 KCNAB2 SSM039 nsv461283 1 6108377 6184092 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537694 M 1557 0 1 CHD5,KCNAB2 HGDP00491 nsv545229 1 6108377 6184092 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173650 M 17421 0 1 CHD5,KCNAB2 HGDP00491 nsv5873552 1 6128413 6128472 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17388034 M 914 0 1 KCNAB2 nsv6050028 1 6131910 6131910 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530740 M 405 1 0 KCNAB2 nsv4044867 1 6137798 6137855 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853240 M 10847 0 1 KCNAB2 nsv5427695 1 6137798 6137855 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905792 M 3202 0 1 KCNAB2 nsv4038661 1 6138015 6138123 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853249 M 10847 0 1 KCNAB2 nsv5582291 1 6138065 6138122 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065689 M 35 0 1 KCNAB2 HG03486 nsv5884976 1 6138065 6138122 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17388010 M 914 0 1 KCNAB2 nsv5984875 1 6138106 6138164 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531254 M 405 0 1 KCNAB2 dgv75n54 1 6141325 6204266 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545231,nsv545230 M 17421 0 2 CHD5,KCNAB2 nsv6536999 1 6144666 6315400 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250451 M 19652 0 0 CHD5,GPR153,HES3,ICMT,KCNAB2,LINC00337,RNF207,RPL22 nsv5541929 1 6144775 6144786 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905794 M 3202 1 0 KCNAB2 nsv470689 1 6149122 6233573 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547692,nssv547691,nssv547693,nssv547694 M 443 0 4 CHD5,KCNAB2 HGDP00288,HGDP00323,HGDP00657,HGDP01397 nsv5883494 1 6156830 6156893 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374611 M 914 0 1 KCNAB2 nsv825697 1 6161760 6162540 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1431963 M 31 1 0 CHD5 NA18972 nsv545232 1 6164408 6168422 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709143 M 17421 1 0 CHD5 esv21998 1 6166718 6169303 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17786 M 40 1 0 CHD5 NA06985 nsv5608972 1 6166988 6166988 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065694 M 35 1 0 CHD5 HG03486 dgv76n54 1 6167121 6169030 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545234,nsv545233 M 17421 5 0 CHD5 esv2739139 1 6167296 6167468 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6853213,essv6721992,essv6821164,essv6813157,essv6941768 M 96 0 5 CHD5 SSM023,SSM045,SSM077,SSM079,SSM087 nsv5984543 1 6167322 6167430 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533916 M 405 0 1 CHD5 esv2676924 1 6167709 6168580 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5397445 M 1151 0 1 CHD5 HG00476 nsv4767686 1 6167754 6167754 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16293781 M 25 1 0 CHD5 esv3668378 1 6167756 6167756 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490744 M 20 1 0 CHD5 nsv5619630 1 6167756 6167756 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066018 M 35 1 0 CHD5 NA12878 nsv6057018 1 6167756 6167756 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528615 M 405 1 0 CHD5 nsv3054078 1 6167777 6167777 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031458 M 2 1 0 CHD5 NA12878 esv3672577 1 6167813 6167895 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494522 M 20 0 0 CHD5 nsv6138328 1 6167850 6168712 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905286 M 3202 0 1 CHD5 nsv6241432 1 6167905 6167905 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17847041 M 1021 1 0 CHD5 nsv545235 1 6167909 6169095 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709149 M 17421 0 1 CHD5 nsv4517359 1 6168037 6168836 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853260 M 10847 0 1 CHD5 nsv4051225 1 6178889 6178955 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853269 M 10847 0 1 CHD5 nsv3197231 1 6179783 6179859 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14304866 M 9 0 1 CHD5 HG00731 nsv5984879 1 6179835 6179907 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519965 M 405 0 1 CHD5 esv3651095 1 6183449 6183449 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475190 M 20 1 0 CHD5 nsv5984472 1 6186382 6186493 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533976 M 405 0 1 CHD5 nsv831425 1 6189351 6324478 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442185,nssv1442173,nssv1442196 M 95 0 3 ACOT7,CHD5,GPR153,HES3,ICMT,LINC00337,RNF207,RPL22 nsv818555 1 6190215 6212870 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417552 M 112 0 1 CHD5 NA18971 nsv854 1 6191265 6236143 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7151 M 9 0 1 CHD5 NA12156 esv3383496 1 6209065 6210363 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692396 M 185 1 0 CHD5 NA19239 nsv1149305 1 6209599 6211000 CNV duplication John_et_al_2014 26484159 Sequencing nssv4002812 M 1 1 0 CHD5 KWB1 nsv4518106 1 6209805 6209874 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853277 M 10847 0 1 CHD5 nsv5415355 1 6210010 6210106 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905297 M 3202 0 1 CHD5 nsv5880344 1 6210020 6210105 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372694 M 914 0 1 CHD5 nsv4038279 1 6210040 6210106 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853285 M 10847 0 1 CHD5 esv2739250 1 6214958 6215186 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6748154 M 96 0 1 CHD5 SSM008 nsv3198925 1 6214961 6219360 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14304310,nssv14304313,nssv14304314,nssv14304311,nssv14304309,nssv14304316,nssv14304317,nssv14304312,nssv14304315 M 9 0 9 CHD5 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv2739361 1 6214972 6215433 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6846993,essv6699588,essv6679149 M 96 0 3 CHD5 SSM033,SSM039,SSM086 nsv5984474 1 6215140 6215259 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526400 M 405 0 1 CHD5 nsv5607723 1 6215172 6215172 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066025 M 35 1 0 CHD5 HG03125 esv2739473 1 6219836 6220595 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6877660,essv6714227,essv6859169,essv6738797,essv6863939,essv6784465,essv6892306,essv6925674,essv6885974,essv6747762,essv6874690,essv6832585,essv6776924,essv6695565,essv6780850,essv6761844,essv6813158,essv6699589,essv6917409,essv6789134,essv6750583,essv6954717,essv6679150,essv6967913,essv6733472,essv6961534,essv6801607,essv6921700,essv6910025,essv6950535,essv6718798,essv6913986,essv6773423,essv6937659,essv6972311,essv6797434,essv6742123 M 96 0 37 CHD5 SSM006,SSM007,SSM009,SSM015,SSM016,SSM017,SSM018,SSM019,SSM022,SSM025,SSM026,SSM027,SSM028,SSM029,SSM033,SSM039,SSM043,SSM049,SSM052,SSM053,SSM056,SSM057,SSM062,SSM066,SSM067,SSM068,SSM070,SSM072,SSM073,SSM077,SSM082,SSM088,SSM089,SSM092,SSM093,SSM096,SSM098 nsv6328708 1 6219986 6220601 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203644 M 19652 1 0 CHD5 nsv4449244 1 6220040 6220236 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15758814 M 1 0 1 CHD5 nsv6138741 1 6220043 6220456 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905308 M 3202 1 0 CHD5 nsv5870098 1 6220104 6220336 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372424 M 914 0 1 CHD5 nsv6060347 1 6220111 6220111 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520663 M 405 1 0 CHD5 nsv5583614 1 6220120 6220173 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066026 M 35 0 1 CHD5 NA19238 nsv5581678 1 6220124 6220319 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066027 M 35 0 1 CHD5 HG00512 nsv4746942 1 6220142 6220337 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268150 M 25 0 1 CHD5 nsv5984882 1 6220148 6220343 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523435 M 405 0 1 CHD5 nsv4517612 1 6220153 6220224 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853297 M 10847 0 1 CHD5 nsv3325456 1 6220159 6220337 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474670,nssv14486572,nssv14486047,nssv14479765 M 14 0 4 CHD5 HG00268,HG02059,HG02818,NA19434 nsv5424663 1 6220173 6220409 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905319 M 3202 0 1 CHD5 nsv3947646 1 6220190 6220383 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180906 M 1 0 1 CHD5 HG002 nsv3324045 1 6220192 6220192 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476106 M 14 1 0 CHD5 HX1 esv2739584 1 6220198 6220504 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6877660,essv6776924,essv6885974,essv6925674,essv6892306,essv6695565,essv6874690,essv6761844,essv6863939,essv6714227,essv6859169,essv6780850,essv6813158,essv6750583,essv6801607,essv6789134,essv6699589,essv6954717,essv6832585,essv6967913,essv6773423,essv6961534,essv6950535,essv6910025,essv6913986,essv6718798,essv6937659,essv6972311,essv6797434 M 96 0 29 CHD5 SSM006,SSM007,SSM015,SSM016,SSM019,SSM022,SSM025,SSM026,SSM027,SSM028,SSM029,SSM039,SSM043,SSM057,SSM062,SSM066,SSM067,SSM068,SSM070,SSM072,SSM073,SSM077,SSM082,SSM088,SSM089,SSM092,SSM093,SSM096,SSM098 esv3679216 1 6220240 6220400 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500499 M 20 0 1 CHD5 nsv3325165 1 6220268 6220321 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488672 M 14 0 1 CHD5 NA19240 nsv3280491 1 6220274 6220328 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389916 M 9 0 1 CHD5 NA19240 nsv5624374 1 6220291 6220291 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066028 M 35 1 0 CHD5 HG00731 nsv2801991 1 6220321 6220321 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689926 M 2 1 0 CHD5 nsv3325457 1 6220321 6220321 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487127,nssv14478172,nssv14473455,nssv14488081,nssv14475630,nssv14487249 M 14 6 0 CHD5 CHM1,HG00514,HG04217,HX1,NA12878,NA19434 nsv6058278 1 6220325 6220325 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535081 M 405 1 0 CHD5 nsv3279931 1 6220349 6220400 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376169 M 9 0 1 CHD5 NA19240 nsv3324046 1 6220350 6220454 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485990,nssv14475560 M 14 0 2 CHD5 HG01352,HG02106 nsv3325458 1 6220353 6220404 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486155 M 14 0 1 CHD5 NA19240 nsv3532050 1 6220354 6220354 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413119 M 9 1 0 CHD5 HG00514 nsv5565197 1 6220358 6220445 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066029 M 35 0 1 CHD5 NA12878 nsv5615224 1 6220360 6220360 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066030 M 35 1 0 CHD5 HG00512 nsv6052650 1 6220364 6220364 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531437 M 405 1 0 CHD5 nsv6043555 1 6220532 6220532 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518855 M 405 1 0 CHD5 nsv545236 1 6221975 6322936 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709150 M 17421 0 1 CHD5,GPR153,HES3,ICMT,LINC00337,RNF207,RPL22 nsv6332889 1 6226367 6227214 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062153 M 19652 0 1 CHD5 nsv5427879 1 6233400 6249139 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905330 M 3202 1 0 CHD5,RPL22 nsv1148543 1 6234199 6236100 CNV duplication John_et_al_2014 26484159 Sequencing nssv4000580 M 1 1 0 CHD5 KWB1 nsv1115334 1 6234300 6235600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976386 M 2 1 0 CHD5 KWS2 nsv4517511 1 6234754 6234851 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853305 M 10847 0 1 CHD5 nsv5622124 1 6236650 6236650 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066035 M 35 1 0 CHD5 HG03732 nsv1076981 1 6239499 6240300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766151 M 1 0 1 CHD5 KWP1 nsv1143431 1 6239500 6240700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980629 M 2 0 1 CHD5 KWS1 nsv945755 1 6245981 6247890 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751446,nssv1750787,nssv1751437,nssv1750799,nssv1751445,nssv1750783,nssv1751438,nssv1750789,nssv1750828,nssv1750817,nssv1751439,nssv1750801,nssv1751460,nssv1750836,nssv1751449,nssv1750813,nssv1751461,nssv1750809,nssv1751473,nssv1750837,nssv1751469,nssv1750830,nssv1751468,nssv1750815,nssv1751448,nssv1751475,nssv1751466,nssv1750833,nssv1751442,nssv1750798,nssv1751436,nssv1750792,nssv1751459,nssv1750807,nssv1750822,nssv1751474,nssv1751452,nssv1750804,nssv1751443,nssv1750838,nssv1751453,nssv1750810,nssv1751444,nssv1750832,nssv1751465,nssv1750834,nssv1750821,nssv1750795,nssv1751464,nssv1750816,nssv1751457,nssv1750790,nssv1750827,nssv1750831,nssv1751450,nssv1750812,nssv1750820,nssv1750800,nssv1751472,nssv1750839,nssv1751467,nssv1750784,nssv1751451,nssv1750785,nssv1751462,nssv1750819,nssv1751447,nssv1750786,nssv1751456,nssv1750805,nssv1751455,nssv1750794,nssv1751470,nssv1750808,nssv1751440,nssv1750814,nssv1750823,nssv1750791,nssv1751463,nssv1750802,nssv1751441,nssv1750788,nssv1750829,nssv1750835,nssv1750826,nssv1750818,nssv1751471,nssv1750806,nssv1751458,nssv1750797,nssv1751454,nssv1750793,nssv1750824,nssv1750811,nssv1750825,nssv1750803,nssv1750796 M 97 10 0 RPL22 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4461606 1 6248593 6248594 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025324 M 10847 1 0 RPL22 nsv4462211 1 6261060 6261061 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025334 M 10847 1 0 "" nsv5881897 1 6263032 6263164 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387524 M 914 0 1 "" nsv954005 1 6263401 6271800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001634 M 1 0 1 RNF207 BILGI_BIOE nsv4039394 1 6265994 6266081 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853312 M 10847 0 1 "" nsv1126172 1 6268600 6269600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984401 M 2 0 1 RNF207 KWS1 esv3651177 1 6275095 6275095 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475263 M 20 1 0 RNF207 dgv8n67 1 6280681 6324363 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv825808,nsv825919 M 31 2 0 ACOT7,GPR153,HES3,ICMT,LINC00337,RNF207 AK6,NA18969 nsv4565816 1 6280852 6280853 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025345 M 10847 1 0 RNF207 nsv5718580 1 6280869 6280869 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17251209,nssv17248934 M 3202 2 0 RNF207 nsv508825 1 6281335 6346609 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623771 M 4 1 0 ACOT7,GPR153,HES3,ICMT,LINC00337,RNF207 NA18994 nsv6328463 1 6287761 6290691 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063420 M 19652 0 1 ICMT nsv5984649 1 6288477 6288677 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536812 M 405 0 1 ICMT nsv4732114 1 6288480 6288549 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16262398 M 25 0 1 ICMT nsv1119659 1 6288854 6288923 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982104 M 2 0 1 ICMT KWS1 nsv1119660 1 6288947 6289010 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982105 M 2 0 1 ICMT KWS1 dgv37n223 1 6294961 6296460 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6335253,nsv6332285 M 19652 0 2 ICMT,LINC00337 nsv6317477 1 6295261 6297460 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203660 M 19652 1 0 ICMT,LINC00337 nsv1076987 1 6295699 6296200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770360 M 1 0 1 ICMT KWP1 dgv28n106 1 6295700 6296400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1118096,nsv1130943 M 2 0 2 ICMT,LINC00337 KWS1,KWS2 nsv4535014 1 6296000 6296001 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024210 M 10847 1 0 ICMT nsv5963395 1 6296011 6296011 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17383533 M 914 1 0 ICMT nsv5538393 1 6296035 6296062 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905337 M 3202 1 0 ICMT nsv5551587 1 6296157 6296166 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905338 M 3202 1 0 "" nsv4534716 1 6296161 6296162 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16022992 M 10847 1 0 "" nsv545237 1 6301050 6310236 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709151 M 17421 0 1 GPR153,HES3 nsv4044531 1 6301429 6302750 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853321 M 10847 0 1 "" nsv1126173 1 6302200 6303000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984402 M 2 0 1 "" KWS1 nsv6333029 1 6302961 6309560 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203661 M 19652 1 0 GPR153,HES3 nsv4049150 1 6306875 6306933 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853560 M 10847 0 1 "" nsv526371 1 6307255 6367219 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv702667 M 2026 0 1 ACOT7,GPR153 nsv4044969 1 6308282 6319691 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853570 M 10847 0 1 GPR153 nsv545238 1 6308570 6317983 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709152 M 17421 0 1 GPR153 nsv965 1 6313180 6357882 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7223 M 9 0 1 ACOT7,GPR153 NA12156 nsv4043288 1 6315943 6316816 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853579 M 10847 0 1 GPR153 nsv6328004 1 6315961 6316760 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062225 M 19652 0 1 GPR153 nsv4052130 1 6316168 6316261 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853329 M 10847 0 1 GPR153 nsv6316711 1 6318088 6355666 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203662 M 19652 1 0 ACOT7,GPR153 nsv5433221 1 6320798 6322585 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905341 M 3202 0 1 GPR153 nsv1076029 1 6320999 6321300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766005 M 1 0 1 GPR153 KWP1 nsv519253 1 6322936 6330015 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696748 M 2026 0 1 ACOT7 nsv545239 1 6322936 6349875 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709153 M 17421 0 1 ACOT7 esv2739695 1 6325177 6325517 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6937660,essv6793268 M 96 0 2 ACOT7 SSM022,SSM071 esv2739806 1 6325323 6325452 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6937660 M 96 0 1 ACOT7 SSM022 esv3659529 1 6325366 6325427 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16465249 M 20 0 0 ACOT7 nsv4041202 1 6326776 6330045 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853598 M 10847 0 1 ACOT7 nsv4042768 1 6326827 6333493 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853607 M 10847 0 1 ACOT7 nsv5984890 1 6329976 6331065 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525977 M 405 0 1 ACOT7 nsv4035848 1 6330259 6333493 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854177 M 10847 0 1 ACOT7 nsv6326402 1 6343059 6344406 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062243 M 19652 0 1 ACOT7 nsv5420249 1 6343060 6344406 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905342 M 3202 0 1 ACOT7 nsv4037991 1 6351292 6351444 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854203 M 10847 0 1 ACOT7 nsv6320089 1 6357352 6358449 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062254 M 19652 0 1 ACOT7 nsv4040914 1 6357395 6358438 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854211 M 10847 0 1 ACOT7 nsv5869311 1 6360521 6360581 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385125 M 914 0 1 ACOT7 esv2678878 1 6360584 6360699 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5960431,essv6134833,essv6106893,essv5573056,essv5629280,essv6206653,essv6021622,essv6252739,essv6002646,essv6440921,essv5774476,essv6251253,essv5590205,essv6476379,essv6209670,essv6274070,essv6406490,essv5953943,essv5912815,essv6356107,essv6517152,essv6353190,essv6320069,essv5929484,essv6430960,essv6580549,essv6068092,essv6055933,essv5646124,essv6425276,essv6490833,essv5616662,essv5832694,essv5713936,essv6061635,essv6349142,essv5740501,essv6501160,essv5655032,essv5933190,essv5881636,essv5829830,essv5581840,essv6522014,essv6126119,essv5603474,essv5566219,essv5874369,essv6502128,essv6331114,essv5889294,essv6301497,essv6075688,essv6433661,essv5445152,essv5770630 M 1151 0 56 ACOT7 HG00143,HG00146,HG00250,HG00421,HG00436,HG00513,HG00689,HG00692,HG01354,HG01521,NA07051,NA07346,NA11830,NA12058,NA12154,NA12400,NA18486,NA18520,NA18565,NA18570,NA18599,NA18615,NA18873,NA18963,NA18984,NA18986,NA18987,NA18988,NA19004,NA19007,NA19055,NA19057,NA19064,NA19065,NA19067,NA19213,NA19350,NA19439,NA19676,NA19707,NA19780,NA19788,NA19819,NA19834,NA19835,NA19916,NA19920,NA19982,NA20524,NA20533,NA20539,NA20752,NA20757,NA20769,NA20783,NA20787 esv3679335 1 6360584 6360700 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500605 M 20 0 1 ACOT7 nsv4762676 1 6360759 6360759 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16263669 M 25 1 0 ACOT7 nsv5613719 1 6360816 6360816 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066154 M 35 1 0 ACOT7 HG00512 nsv3324487 1 6360817 6360817 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485025 M 14 1 0 ACOT7 NA19240 nsv6040462 1 6360851 6360851 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532852 M 405 1 0 ACOT7 nsv3177666 1 6360855 6360918 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374119 M 9 0 0 ACOT7 NA19240 esv3585102 1 6362136 6367625 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845892,essv9845893 M 2504 0 2 ACOT7 HG03895,HG04107 nsv4037379 1 6362242 6367623 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854222 M 10847 0 1 ACOT7 nsv5422575 1 6362242 6367623 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905343 M 3202 0 1 ACOT7 nsv6324464 1 6362242 6367623 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062257 M 19652 0 1 ACOT7 nsv4461652 1 6363523 6363524 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023001 M 10847 1 0 ACOT7 nsv5680477 1 6363538 6363538 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17204617 M 3202 1 0 ACOT7 nsv5396014 1 6363538 6363589 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905345 M 3202 1 0 ACOT7 nsv5557666 1 6364596 6366193 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905346 M 3202 0 0 ACOT7 nsv5569786 1 6364708 6366160 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066160 M 35 0 1 ACOT7 HG02011 nsv5984481 1 6365038 6365214 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530482 M 405 0 1 ACOT7 nsv5984552 1 6365164 6365241 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526411 M 405 0 1 ACOT7 nsv5568246 1 6365189 6365364 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066161 M 35 0 1 ACOT7 HG02818 nsv5886151 1 6365759 6365834 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382788 M 914 0 1 ACOT7 esv24092 1 6366319 6368893 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv18277 M 40 0 1 ACOT7 NA19240 nsv522013 1 6367219 6456472 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694782 M 2026 0 1 ACOT7 esv2739917 1 6367699 6368264 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859170,essv6950084,essv6780851,essv6917410,essv6801608,essv6967914 M 96 0 6 ACOT7 SSM004,SSM017,SSM028,SSM068,SSM073,SSM088 esv2740028 1 6367870 6367923 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859170 M 96 0 1 ACOT7 SSM088 nsv5867909 1 6367888 6367947 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385739 M 914 0 1 ACOT7 nsv5984553 1 6367905 6367961 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529308 M 405 0 1 ACOT7 nsv5573147 1 6368211 6368362 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066164 M 35 0 1 ACOT7 HG00171 nsv5984892 1 6368315 6368465 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525772 M 405 0 1 ACOT7 nsv521525 1 6379607 6387784 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698142 M 2026 0 1 ACOT7 nsv4045373 1 6383443 6383777 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854232 M 10847 0 1 ACOT7 nsv1076 1 6385350 6429582 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2226 M 9 0 1 ACOT7 NA18555 nsv6318073 1 6394222 6396595 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062283 M 19652 0 1 ACOT7 nsv4033771 1 6396978 6397116 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854251 M 10847 0 1 ACOT7 nsv5720391 1 6398060 6398060 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17248641,nssv17236564 M 3202 2 0 ACOT7 nsv6046802 1 6398060 6398060 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537282 M 405 1 0 ACOT7 esv3651383 1 6399812 6399812 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475448 M 20 1 0 ACOT7 nsv6322717 1 6399895 6400121 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062288 M 19652 0 1 ACOT7 nsv5984484 1 6399913 6400138 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520017 M 405 0 1 ACOT7 nsv4044849 1 6401223 6401284 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854261 M 10847 0 1 ACOT7 nsv6541523 1 6401399 6401603 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250593 M 19652 0 0 ACOT7 nsv477455 1 6402353 6402353 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013155 M 9 1 0 ACOT7 NA18517 nsv1009548 1 6403036 6577412 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696764 M 11257 0 1 ACOT7,ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 nsv4040466 1 6404481 6404909 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854272 M 10847 0 1 ACOT7 nsv523989 1 6411214 6456472 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699845 M 2026 0 1 ACOT7 nsv545240 1 6411214 6572175 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709154 M 17421 0 1 ACOT7,ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 nsv6535923 1 6413096 6413282 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250600 M 19652 0 0 ACOT7 nsv1119661 1 6413448 6413523 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982106 M 2 0 1 ACOT7 KWS1 nsv5609477 1 6414730 6414730 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066177 M 35 1 0 ACOT7 NA19238 nsv4733781 1 6414736 6414796 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268013 M 25 0 1 ACOT7 nsv5984894 1 6414756 6414818 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530778 M 405 0 1 ACOT7 nsv3539133 1 6414839 6414839 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379730 M 9 1 0 ACOT7 NA19240 nsv6318560 1 6422400 6427147 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062310 M 19652 0 1 ACOT7 nsv4043799 1 6422568 6430872 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854281 M 10847 0 1 ACOT7 nsv4536279 1 6424120 6424121 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023020 M 10847 1 0 ACOT7 nsv4562988 1 6425507 6425508 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023029 M 10847 1 0 ACOT7 nsv1113068 1 6431604 6431671 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967959 M 2 0 1 ACOT7 KWS2 nsv5419798 1 6434446 6445347 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906293 M 3202 0 1 ACOT7 dgv11e199 1 6434463 6445353 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2673327,esv2665730 M 1151 0 8 ACOT7 HG00138,HG00159,HG00246,HG00325,HG00684,HG01140,NA12342,NA20504 esv3585104 1 6434482 6445321 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845897,essv9845911,essv9845901,essv9845900,essv9845909,essv9845903,essv9845896,essv9845910,essv9845902,essv9845899,essv9845907,essv9845904,essv9845898,essv9845912,essv9845916,essv9845908,essv9845915,essv9845906,essv9845917,essv9845905,essv9845914,essv9845913 M 2504 0 22 ACOT7 HG00096,HG00138,HG00325,HG00345,HG00371,HG00684,HG01140,HG01344,HG01509,HG02681,HG03007,HG03625,HG03731,HG03864,HG03922,NA12044,NA12046,NA12760,NA18558,NA19914,NA20504,NA20870 nsv5427638 1 6436459 6438096 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906294 M 3202 0 1 ACOT7 nsv6331304 1 6436459 6438096 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062319 M 19652 0 1 ACOT7 nsv4043332 1 6436486 6438096 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854740 M 10847 0 1 ACOT7 esv3585105 1 6436514 6438135 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845918 M 2504 0 1 ACOT7 HG02666 dgv38n223 1 6436961 6445860 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6320354,nsv6334621,nsv6323530 M 19652 0 3 ACOT7 nsv545241 1 6437542 6445368 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709155 M 17421 0 1 ACOT7 esv3539789 1 6437890 6446000 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9738536 M 767 0 1 ACOT7 nsv6324338 1 6437961 6440760 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062322 M 19652 0 1 ACOT7 esv3585106 1 6438160 6445897 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845945,essv9845934,essv9845944,essv9845933,essv9845943,essv9845932,essv9845930,essv9845926,essv9845931,essv9845921,essv9845929,essv9845922,essv9845928,essv9845923,essv9845948,essv9845927,essv9845946,essv9845919,essv9845947,essv9845924,essv9845940,essv9845920,essv9845938,essv9845925,essv9845942,essv9845936,essv9845941,essv9845935,essv9845937,essv9845939 M 2504 0 30 ACOT7 HG00096,HG00126,HG00138,HG00159,HG00176,HG00246,HG00325,HG00345,HG00371,HG01140,HG01344,HG01509,HG01516,HG02660,HG02681,HG03007,HG03625,HG03731,HG03864,HG03922,HG03967,NA12044,NA12046,NA12342,NA12760,NA12872,NA18558,NA19914,NA20504,NA20870 nsv5569599 1 6438169 6445894 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066179 M 35 0 1 ACOT7 HG00096 nsv5872489 1 6438169 6445894 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381026 M 914 0 1 ACOT7 esv2678076 1 6438169 6445895 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6180877,essv5712074,essv5746308,essv6270116,essv6038179,essv5579207,essv6323711,essv5574356,essv6083095,essv5499015,essv5621209,essv6110969,essv5814488 M 1151 0 13 ACOT7 HG00138,HG00159,HG00176,HG00246,HG00325,HG00345,HG01140,NA12044,NA12046,NA12342,NA18558,NA19914,NA20504 nsv4034917 1 6438169 6445895 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854757 M 10847 0 1 ACOT7 nsv6139003 1 6438173 6445895 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906296 M 3202 0 1 ACOT7 esv21684 1 6438194 6445835 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12785 M 40 0 1 ACOT7 NA12044 nsv5830722 1 6438238 6445913 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480155 M 914 0 0 ACOT7 nsv6327839 1 6439061 6441660 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062324 M 19652 0 1 ACOT7 dgv77n54 1 6439368 6445806 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545243,nsv545242,nsv545245,nsv545244,nsv545246,nsv545247,nsv545249,nsv545248,nsv545250 M 17421 0 39 ACOT7 nsv6044388 1 6439839 6439839 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532462 M 405 1 0 ACOT7 nsv4561343 1 6440948 6440949 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023595 M 10847 1 0 ACOT7 dgv78n54 1 6441893 6445806 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545252,nsv545251 M 17421 0 5 ACOT7 nsv5887158 1 6441913 6442191 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385550 M 914 0 1 ACOT7 nsv5960000 1 6441927 6441927 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17377530 M 914 1 0 ACOT7 nsv6321628 1 6441969 6442248 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062327 M 19652 0 1 ACOT7 nsv6334300 1 6442561 6445860 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062329 M 19652 0 1 ACOT7 nsv4034100 1 6443264 6454655 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854767 M 10847 0 1 ACOT7 nsv6323179 1 6443264 6454683 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062330 M 19652 0 1 ACOT7 nsv6331989 1 6444061 6445860 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062331 M 19652 0 1 ACOT7 dgv79n54 1 6444278 6445752 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545256,nsv545255,nsv545254,nsv545253 M 17421 0 5 ACOT7 nsv545257 1 6444967 6445806 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709205 M 17421 0 1 ACOT7 nsv6317301 1 6445289 6447160 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062332 M 19652 0 1 ACOT7 nsv1118097 1 6453000 6454100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980316 M 2 0 1 ACOT7 KWS1 nsv4037078 1 6453104 6453170 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854774 M 10847 0 1 ACOT7 nsv5428397 1 6453104 6453170 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906297 M 3202 0 1 ACOT7 dgv2n27 1 6456472 6572175 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv461616,nsv461728,nsv461950,nsv461839 M 1557 0 4 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 1780862021_A,HGDP00814,NINDS_66,NINDS_98 dgv80n54 1 6456472 6572175 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545261,nsv545259,nsv545258,nsv545260,nsv545262,nsv545263 M 17421 0 8 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 1780862021_A,HGDP00814,NINDS_66,NINDS_98 nsv4043869 1 6458171 6458255 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854785 M 10847 0 1 "" dgv15n209 1 6458593 6459827 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5830610,nsv5830423 M 914 0 0 "" esv3585107 1 6458634 6459611 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9845996,essv9845965,essv9845991,essv9846011,essv9845972,essv9845987,essv9846013,essv9845977,essv9845988,essv9846014,essv9845968,essv9845989,essv9845992,essv9845973,essv9845990,essv9846004,essv9845984,essv9845997,essv9845976,essv9846006,essv9845967,essv9846010,essv9845974,essv9846017,essv9845980,essv9845999,essv9845981,essv9845998,essv9845982,essv9846007,essv9845966,essv9845995,essv9845979,essv9845994,essv9845978,essv9846001,essv9845964,essv9846008,essv9845969,essv9846000,essv9845970,essv9846012,essv9845971,essv9846005,essv9845983,essv9846002,essv9845985,essv9846009,essv9845986,essv9846016,essv9845975,essv9845993,essv9845963,essv9846003,essv9846026,essv9846015,essv9846025,essv9845952,essv9846027,essv9845960,essv9846021,essv9845958,essv9846029,essv9845956,essv9846019,essv9845957,essv9846024,essv9845951,essv9846023,essv9845959,essv9846018,essv9845962,essv9846022,essv9845954,essv9846020,essv9845961,essv9846028,essv9845955,essv9845949,essv9845953,essv9845950 M 2504 0 81 "" HG00743,HG01312,HG01896,HG01986,HG01989,HG02052,HG02053,HG02143,HG02317,HG02334,HG02419,HG02445,HG02449,HG02464,HG02502,HG02508,HG02557,HG02582,HG02583,HG02629,HG02678,HG02757,HG02768,HG02879,HG02887,HG02944,HG02981,HG03046,HG03048,HG03057,HG03058,HG03111,HG03198,HG03212,HG03258,HG03351,HG03352,HG03470,HG03479,HG03515,HG03517,HG03559,HG03572,NA18489,NA18498,NA18505,NA18517,NA18523,NA18853,NA19024,NA19036,NA19042,NA19095,NA19107,NA19113,NA19131,NA19137,NA19200,NA19210,NA19214,NA19239,NA19247,NA19319,NA19320,NA19328,NA19331,NA19332,NA19334,NA19351,NA19384,NA19428,NA19449,NA19461,NA19466,NA19472,NA19475,NA19664,NA19818,NA20276,NA20348,NA20362 nsv3525940 1 6458635 6459607 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14303306 M 9 0 1 "" NA19239 nsv5870756 1 6458636 6459607 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17378090 M 914 0 1 "" esv2678507 1 6458636 6459610 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6395166,essv5461566,essv5544144,essv5518920,essv5761716,essv6014139,essv5695343,essv5547221 M 1151 0 8 "" NA18489,NA18853,NA19247,NA19331,NA19332,NA19428,NA19472,NA19664 nsv4048991 1 6458636 6459610 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854794 M 10847 0 1 "" nsv5419242 1 6458636 6459610 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906298 M 3202 0 1 "" nsv6321553 1 6458636 6459610 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062346 M 19652 0 1 "" nsv5580898 1 6458638 6459609 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066182 M 35 0 1 "" NA19239 esv29840 1 6458853 6459551 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11459 M 40 0 2 "" NA18517,NA18523 nsv5424194 1 6459953 6462530 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906299 M 3202 0 1 "" nsv5870789 1 6459959 6462534 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383169 M 914 0 1 "" nsv6325958 1 6459964 6462509 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062350 M 19652 0 1 "" nsv4320407 1 6460677 6467418 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788847 M 10847 0 0 "" esv3651465 1 6463851 6463851 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475521 M 20 1 0 "" nsv508836 1 6466956 6561089 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619766 M 4 1 0 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 NA10860 nsv5422545 1 6467432 6467560 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906300 M 3202 1 0 "" nsv6541443 1 6467632 6468002 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250609 M 19652 0 0 "" nsv6333464 1 6470256 6472668 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062354 M 19652 0 1 "" nsv954048 1 6474301 6560800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001645 M 1 0 1 ESPN,HES2,MIR4252,PLEKHG5,TNFRSF25 BILGI_BIOE nsv4462373 1 6474336 6474337 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023604 M 10847 1 0 "" esv25412 1 6476628 6521516 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv14500 M 40 1 2 ESPN,HES2,MIR4252,TNFRSF25 NA12489,NA18916,NA19147 nsv7880 1 6478028 6671974 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv11789,nssv24605,nssv21438 M 31 1 2 ESPN,HES2,KLHL21,MIR4252,NOL9,PLEKHG5,TAS1R1,TNFRSF25,ZBTB48 NA18517,NA18564,NA19173 nsv1142745 1 6484800 6485200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994244 M 2 0 1 ESPN KWS1 nsv482179 1 6484848 6521003 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558540 M 1 1 0 ESPN,MIR4252 KB1 nsv5619285 1 6489371 6489371 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066203 M 35 1 0 ESPN HG01505 nsv831536 1 6489386 6665403 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442240,nssv1442251,nssv1442262,nssv1442273,nssv1442284,nssv1442296,nssv1442307,nssv1442340,nssv1442318,nssv1442351,nssv1442362,nssv1442373,nssv1442229,nssv1442207,nssv1442218,nssv1442329 M 95 0 16 ESPN,KLHL21,MIR4252,NOL9,PLEKHG5,TAS1R1,TNFRSF25,ZBTB48 dgv9n67 1 6489926 6524490 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv826030,nsv826142 M 31 2 0 ESPN,MIR4252,TNFRSF25 NA18564,NA18969 nsv4044936 1 6490626 6491058 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854807 M 10847 0 1 ESPN nsv5428818 1 6490692 6491058 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906301 M 3202 0 1 ESPN esv3672637 1 6491688 6491689 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494577 M 20 0 0 ESPN nsv470690 1 6494399 6572175 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547695 M 443 1 0 ESPN,PLEKHG5,TNFRSF25 HGDP00553 nsv5830725 1 6495840 6498106 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481131 M 914 0 0 ESPN nsv5568949 1 6496953 6497024 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066204 M 35 0 1 ESPN NA20509 nsv5876958 1 6497005 6497076 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373613 M 914 0 1 ESPN nsv5984557 1 6497008 6497078 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527383 M 405 0 1 ESPN esv3651589 1 6497680 6497680 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475633 M 20 1 0 ESPN nsv5583310 1 6498341 6498529 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066206 M 35 0 1 ESPN NA20509 nsv5567010 1 6498448 6498529 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066207 M 35 0 1 ESPN NA19240 nsv3112650 1 6501458 6524219 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14096547 M 467 0 1 ESPN,TNFRSF25 sample363 nsv5574847 1 6502636 6502926 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066212 M 35 0 1 ESPN NA20509 nsv6327703 1 6503867 6504385 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062417 M 19652 0 1 ESPN nsv5621276 1 6508961 6508961 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066213 M 35 1 0 ESPN HG01596 nsv3064143 1 6508969 6508969 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033370 M 2 1 0 ESPN NA12878 esv3672661 1 6514745 6514746 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494599 M 20 0 0 ESPN nsv545264 1 6517179 6552499 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709210 M 17421 0 1 ESPN,PLEKHG5,TNFRSF25 nsv470691 1 6520311 6577765 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547696 M 443 0 1 ESPN,PLEKHG5,TNFRSF25 HGDP00978 nsv462061 1 6523430 6580896 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538332 M 1557 0 1 PLEKHG5,TNFRSF25 HGDP00614 nsv545265 1 6523430 6580896 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173655 M 17421 0 1 PLEKHG5,TNFRSF25 HGDP00614 nsv545266 1 6524501 6530435 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709211 M 17421 0 1 PLEKHG5,TNFRSF25 nsv545267 1 6526324 6564156 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709212 M 17421 0 1 PLEKHG5 nsv4051025 1 6535272 6535341 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854816 M 10847 0 1 PLEKHG5 nsv1187 1 6547844 6567465 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3152 M 9 1 0 PLEKHG5 NA12878 nsv6324961 1 6548042 6548331 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062441 M 19652 0 1 PLEKHG5 nsv4043765 1 6548043 6548331 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854825 M 10847 0 1 PLEKHG5 nsv5414983 1 6548043 6548331 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906303 M 3202 0 1 PLEKHG5 nsv545268 1 6550376 6638064 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709213 M 17421 0 1 NOL9,PLEKHG5,TAS1R1 nsv6333326 1 6554246 6556094 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062445 M 19652 0 1 PLEKHG5 nsv5414499 1 6555514 6556245 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906304 M 3202 0 1 PLEKHG5 nsv473388 1 6559179 6559179 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011403 M 9 1 0 PLEKHG5 NA19129 nsv3324495 1 6560699 6560699 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473486 M 14 1 0 PLEKHG5 HG01352 nsv6317021 1 6570429 6570868 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062453 M 19652 0 1 PLEKHG5 nsv5580081 1 6577131 6577188 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065704 M 35 0 1 PLEKHG5 NA19238 nsv3526753 1 6577131 6577189 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14304922,nssv14304923 M 9 0 2 PLEKHG5 NA19238,NA19240 esv3540122 1 6577131 6577191 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9738869 M 767 0 1 PLEKHG5 nsv3183678 1 6577132 6577190 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383558 M 9 0 1 PLEKHG5 NA19240 nsv1119662 1 6578137 6578206 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982107 M 2 0 1 PLEKHG5 KWS1 nsv6321449 1 6578158 6579068 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062454 M 19652 0 1 PLEKHG5 nsv5423743 1 6578178 6579069 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906307 M 3202 0 1 PLEKHG5 nsv6329098 1 6580477 6647963 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204293 M 19652 1 0 NOL9,TAS1R1,ZBTB48 nsv5984790 1 6580950 6582807 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532153 M 405 0 1 NOL9 nsv4043942 1 6580974 6582807 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854852 M 10847 0 1 NOL9 nsv831647 1 6585869 6647590 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442384,nssv1442407,nssv1442395,nssv1442440,nssv1442418,nssv1442429,nssv1442451,nssv1442462,nssv1442495,nssv1442473,nssv1442484,nssv1442540,nssv1442506,nssv1442529,nssv1442518 M 95 0 15 NOL9,TAS1R1,ZBTB48 esv3651714 1 6598051 6598051 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475746 M 20 1 0 NOL9 nsv6327483 1 6600176 6601338 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062462 M 19652 0 1 NOL9 nsv6545648 1 6600746 6601282 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251235 M 19652 0 0 NOL9 nsv4518304 1 6602121 6602575 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853344 M 10847 0 1 NOL9 nsv5426934 1 6602781 6612627 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906318 M 3202 1 0 NOL9 nsv6324113 1 6602898 6619199 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204300 M 19652 1 0 NOL9,TAS1R1 nsv6540214 1 6603277 6604148 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251236 M 19652 0 0 NOL9 nsv545269 1 6606608 6690140 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709214 M 17421 0 1 KLHL21,NOL9,PHF13,TAS1R1,THAP3,ZBTB48 dgv19n166 1 6611596 6612461 OTHER inversion gnomAD_Structural_Variants 32461652 Sequencing nsv4557714,nsv4566361 M 10847 0 0 NOL9 nsv6552717 1 6611721 6612442 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251239 M 19652 0 0 NOL9 nsv4050411 1 6616000 6626000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853354 M 10847 0 1 TAS1R1 nsv5830729 1 6616657 6635564 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481140 M 914 0 0 TAS1R1 nsv6323354 1 6616742 6635755 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062467 M 19652 0 1 TAS1R1 nsv4037720 1 6616743 6635755 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853362 M 10847 0 1 TAS1R1 nsv5872542 1 6616793 6635755 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376281 M 914 0 1 TAS1R1 esv3651782 1 6617068 6617068 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475807 M 20 1 0 TAS1R1 nsv4044769 1 6618501 6618851 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853369 M 10847 0 1 TAS1R1 nsv5617614 1 6618953 6618953 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066362 M 35 1 0 TAS1R1 NA12878 nsv4535208 1 6618953 6618954 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023616 M 10847 1 0 TAS1R1 nsv6053956 1 6618954 6618954 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533724 M 405 1 0 TAS1R1 nsv5972873 1 6618970 6619782 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17378990 M 914 0 0 TAS1R1 esv1249079 1 6618972 6618972 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4064753 M 2 1 0 TAS1R1 HuRef nsv6147488 1 6618972 6619782 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906339 M 3202 0 0 TAS1R1 nsv6549892 1 6618972 6619783 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251241 M 19652 0 0 TAS1R1 nsv2801996 1 6618973 6618973 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685932 M 2 1 0 TAS1R1 nsv3325472 1 6618973 6618973 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14480579 M 14 1 0 TAS1R1 CHM1 nsv1078292 1 6619141 6619828 OTHER inversion Thareja_et_al_2015 25765185 Sequencing nssv3771851 M 1 0 0 TAS1R1 KWP1 esv3302807 1 6620539 6630319 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7734013,essv7733376,essv7736227 M 185 3 0 TAS1R1 NA18517,NA18871,NA18945 nsv6326462 1 6620623 6621073 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062473 M 19652 0 1 TAS1R1 nsv5428566 1 6620873 6627349 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906361 M 3202 0 1 TAS1R1 esv3585108 1 6621091 6626994 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846032,essv9846033,essv9846030,essv9846031 M 2504 0 4 TAS1R1 HG03873,HG03953,HG03998,NA21106 nsv6331289 1 6626786 6633866 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062476 M 19652 0 1 TAS1R1 nsv4042630 1 6626809 6633870 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853377 M 10847 0 1 TAS1R1 nsv5830428 1 6626942 6628458 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480166 M 914 0 0 TAS1R1 nsv5430200 1 6627507 6628466 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906372 M 3202 0 1 TAS1R1 nsv6327122 1 6627524 6628391 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062478 M 19652 0 1 TAS1R1 nsv4035913 1 6627536 6628431 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965306 M 10847 1 0 TAS1R1 nsv6327894 1 6627536 6628431 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204305 M 19652 1 0 TAS1R1 nsv4042242 1 6633453 6633532 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853384 M 10847 0 1 TAS1R1 nsv476608 1 6637146 6637146 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012014 M 9 1 0 TAS1R1 NA12878 nsv5678761 1 6639815 6639815 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17204846 M 3202 1 0 TAS1R1 nsv5411825 1 6639815 6639866 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906380 M 3202 1 0 TAS1R1 nsv955151 1 6642301 6658200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001656 M 1 0 1 KLHL21,ZBTB48 BILGI_BIOE nsv5830731 1 6642986 6644985 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480168 M 914 0 0 ZBTB48 nsv5871232 1 6643005 6644928 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17389124 M 914 0 1 ZBTB48 nsv4038737 1 6643009 6644929 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853394 M 10847 0 1 ZBTB48 nsv6329618 1 6643009 6644929 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062490 M 19652 0 1 ZBTB48 nsv6334535 1 6643482 6643928 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062491 M 19652 0 1 ZBTB48 nsv6316765 1 6647627 6649213 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062495 M 19652 0 1 ZBTB48 nsv472111 1 6648560 6648560 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011064 M 9 1 0 ZBTB48 NA18555 nsv3113666 1 6659449 6689788 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nssv14099130 M 467 1 0 KLHL21,PHF13,THAP3 sample360 nsv826253 1 6660245 6688703 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426369 M 31 1 0 KLHL21,PHF13,THAP3 AK6 nsv5419576 1 6664158 6664255 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906391 M 3202 0 1 "" nsv4035600 1 6666154 6666232 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853402 M 10847 0 1 "" nsv1113069 1 6666934 6667007 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967960 M 2 0 1 "" KWS2 nsv1133801 1 6670109 6670167 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969371 M 2 0 1 "" KWS2 nsv3116538 1 6672602 6676657 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14097220 M 467 0 1 PHF13 sample353 dgv29n106 1 6673000 6675900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1126174,nsv1121745 M 2 0 2 PHF13 KWS1,KWS2 nsv955152 1 6673601 6675200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001667 M 1 0 1 PHF13 BILGI_BIOE nsv1076992 1 6674399 6675200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767120 M 1 0 1 PHF13 KWP1 nsv5543015 1 6693918 6693918 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906393 M 3202 1 0 THAP3 nsv4534174 1 6700460 6700461 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025368 M 10847 1 0 DNAJC11 nsv437199 1 6702151 6803747 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467080 M 60 0 1 DNAJC11,LOC100505887 NA19205 nsv1004598 1 6705356 7238663 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3470065 M 11257 1 0 CAMTA1,DNAJC11,LOC100505887 nsv5430510 1 6707329 6709404 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906394 M 3202 0 1 DNAJC11 esv3651844 1 6709246 6709246 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475863 M 20 1 0 DNAJC11 nsv5872533 1 6722098 6722339 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373499 M 914 0 1 DNAJC11 nsv4517322 1 6722103 6722327 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854291 M 10847 0 1 DNAJC11 nsv5427689 1 6722103 6722327 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906395 M 3202 0 1 DNAJC11 esv3585109 1 6724320 6725187 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846034 M 2504 0 1 DNAJC11 HG01672 nsv5433738 1 6724380 6725172 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906396 M 3202 0 1 DNAJC11 nsv945756 1 6726198 6727108 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750843,nssv1750908,nssv1750841,nssv1750906,nssv1750842,nssv1750929,nssv1750849,nssv1750915,nssv1750850,nssv1750888,nssv1750925,nssv1750894,nssv1750856,nssv1750902,nssv1750923,nssv1750890,nssv1750840,nssv1750883,nssv1750867,nssv1750891,nssv1750868,nssv1750900,nssv1750846,nssv1750912,nssv1750844,nssv1750903,nssv1750875,nssv1750914,nssv1750866,nssv1750934,nssv1750922,nssv1750907,nssv1750847,nssv1750930,nssv1750848,nssv1750893,nssv1750877,nssv1750933,nssv1750924,nssv1750927,nssv1750861,nssv1750880,nssv1750873,nssv1750910,nssv1750869,nssv1750928,nssv1750917,nssv1750898,nssv1750845,nssv1750892,nssv1750864,nssv1750896,nssv1750872,nssv1750905,nssv1750876,nssv1750889,nssv1750854,nssv1750886,nssv1750862,nssv1750904,nssv1750851,nssv1750895,nssv1750919,nssv1750901,nssv1750857,nssv1750931,nssv1750859,nssv1750936,nssv1750853,nssv1750878,nssv1750865,nssv1750935,nssv1750918,nssv1750911,nssv1750926,nssv1750909,nssv1750852,nssv1750884,nssv1750855,nssv1750913,nssv1750858,nssv1750897,nssv1750920,nssv1750887,nssv1750860,nssv1750899,nssv1750871,nssv1750881,nssv1750921,nssv1750882,nssv1750870,nssv1750879,nssv1750863,nssv1750916,nssv1750874,nssv1750932,nssv1750885 M 97 10 0 DNAJC11 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6326304 1 6728561 6730060 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062621 M 19652 0 1 DNAJC11 esv2640779 1 6728607 6729873 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5234545 M 1 0 1 DNAJC11 NA18507 esv2237641 1 6729218 6729787 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4834781 M 1 0 1 DNAJC11 NA18507 nsv5427014 1 6729274 6729585 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906397 M 3202 0 1 DNAJC11 nsv5884155 1 6730016 6730180 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387231 M 914 0 1 DNAJC11 nsv5430868 1 6730025 6730181 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906398 M 3202 0 1 DNAJC11 nsv1298 1 6738208 6758452 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4861 M 9 1 0 DNAJC11 NA19129 nsv6327429 1 6744411 6753673 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062633 M 19652 0 1 DNAJC11 nsv4044702 1 6744430 6753685 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854302 M 10847 0 1 DNAJC11 nsv5416799 1 6744430 6753738 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906399 M 3202 0 1 DNAJC11 nsv5427511 1 6745844 6802621 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906400 M 3202 1 0 DNAJC11,LOC100505887 nsv1137722 1 6749849 6749916 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990229 M 2 0 1 DNAJC11 KWS2 nsv6549605 1 6753437 6755035 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251252 M 19652 0 0 DNAJC11 nsv6550344 1 6753943 6755634 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251254 M 19652 0 0 DNAJC11 nsv525013 1 6756434 6761261 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701050 M 2026 0 1 DNAJC11 nsv5608600 1 6758268 6758268 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066394 M 35 1 0 DNAJC11 HG02818 nsv4535145 1 6758268 6758269 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025378 M 10847 1 0 DNAJC11 nsv3325838 1 6758269 6758269 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14486868 M 14 1 0 DNAJC11 HG02818 nsv5689786 1 6758280 6758280 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17209011,nssv17203585 M 3202 2 0 DNAJC11 nsv5408493 1 6758280 6758331 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906402 M 3202 1 0 DNAJC11 nsv6321456 1 6761161 6762160 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062644 M 19652 0 1 DNAJC11 nsv1130944 1 6761700 6763700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967641 M 2 0 1 DNAJC11 KWS2 esv2660484 1 6762325 6763729 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6494991 M 1151 0 1 "" NA19916 nsv5884037 1 6762327 6763637 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369797 M 914 0 1 "" nsv5830619 1 6762346 6763645 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480698 M 914 0 0 "" nsv6316477 1 6762362 6763599 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062647 M 19652 0 1 "" nsv5429774 1 6762375 6763599 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906403 M 3202 0 1 "" esv28409 1 6762626 6763496 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv18257 M 40 0 1 "" NA18909 nsv4046770 1 6764205 6766620 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854312 M 10847 0 1 "" nsv5419647 1 6765595 6766578 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906404 M 3202 1 0 "" nsv5427407 1 6768394 6769890 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906406 M 3202 0 1 "" nsv6317513 1 6770359 6777499 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204309 M 19652 1 0 "" esv3651913 1 6777683 6777683 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16475925 M 20 1 0 "" nsv1126972 1 6777837 6777891 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985260 M 2 0 1 "" KWS1 nsv4038881 1 6780585 6782234 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965317 M 10847 1 0 "" nsv6323949 1 6782208 6783197 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204310 M 19652 1 0 "" nsv4518056 1 6782238 6783168 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965326 M 10847 1 0 "" nsv5419799 1 6782258 6783139 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906407 M 3202 1 0 "" nsv6316055 1 6784748 6786953 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062655 M 19652 0 1 LOC100505887 nsv5432371 1 6787199 6793594 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906408 M 3202 1 0 LOC100505887 nsv6326345 1 6787202 6793643 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204311 M 19652 1 0 LOC100505887 nsv4035680 1 6787228 6793593 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965335 M 10847 1 0 LOC100505887 esv28362 1 6787516 6793395 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14015 M 40 1 0 LOC100505887 NA19225 nsv4462240 1 6787763 6787764 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025388 M 10847 1 0 LOC100505887 nsv5425109 1 6788350 6802355 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906409 M 3202 0 1 LOC100505887 nsv4043850 1 6789000 6802000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854330 M 10847 0 1 LOC100505887 nsv3113982 1 6789491 6826407 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nssv14090436 M 467 1 0 LOC100505887 sample113 nsv5868397 1 6791743 6793119 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384086 M 914 0 1 "" esv2658131 1 6791743 6793120 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6579898,essv6536392 M 1151 0 2 "" NA19373,NA19393 nsv5830624 1 6791765 6793159 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480706 M 914 0 0 "" nsv4034616 1 6791773 6793120 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854338 M 10847 0 1 "" nsv5417213 1 6791773 6793120 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905955 M 3202 0 1 "" nsv5433134 1 6793150 6793608 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16905966 M 3202 0 1 "" nsv3229159 1 6793736 6829931 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260763,nssv14260764,nssv14259795,nssv14260765,nssv14259793,nssv14260762,nssv14260761,nssv14259794,nssv14259796 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3585111 1 6796042 6803582 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846043 M 2504 1 0 "" HG01776 nsv4035573 1 6799053 6808361 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854347 M 10847 0 1 "" nsv6321146 1 6799053 6808361 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062660 M 19652 0 1 "" nsv4740524 1 6799083 6799162 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273348 M 25 0 1 "" nsv512713 1 6802507 6802802 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625337 M 1 1 0 "" 1 nsv2802566 1 6802617 6802617 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677805 M 2 1 0 "" nsv3324739 1 6802617 6802617 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477990,nssv14491400,nssv14482836 M 14 3 0 "" CHM1,HG00268,HG02818 nsv3533699 1 6802617 6802617 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413120,nssv14440056,nssv14383244 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3927646 1 6802617 6802617 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190694,nssv15190693 M 1 1 0 "" HG002 nsv5611956 1 6802617 6802617 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066053 M 35 1 0 "" HG00731 nsv6049125 1 6802617 6802617 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524773 M 405 1 0 "" dgv85n152 1 6802618 6802731 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3209280,nsv3208314 M 9 0 2 "" HG00512,HG00514 esv1464790 1 6802621 6802621 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3709090 M 2 1 0 "" HuRef nsv6242108 1 6802621 6802621 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17848626 M 1021 1 0 "" nsv2802567 1 6802648 6802648 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693968 M 2 1 0 "" nsv3325479 1 6802648 6802648 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489911,nssv14487804,nssv14478787,nssv14484918,nssv14481195,nssv14489805,nssv14486263 M 14 7 0 "" CHM1,CHM13,HG00514,HG01352,HG02059,HG02106,HG02818 nsv2802568 1 6802653 6802653 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689352 M 2 1 0 "" nsv4050647 1 6808673 6808854 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962903 M 10847 1 0 "" nsv5429961 1 6808673 6808854 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906933 M 3202 1 0 "" nsv6326950 1 6812079 6814818 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204316 M 19652 1 0 "" nsv3522119 1 6814803 6814803 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413121 M 9 1 0 "" HG00514 nsv5397640 1 6814803 6814803 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906934 M 3202 1 0 "" nsv5610966 1 6814803 6814803 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066055 M 35 1 0 "" HG00512 nsv5953744 1 6814803 6814803 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17384465 M 914 1 0 "" nsv6045717 1 6814803 6814803 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530377 M 405 1 0 "" nsv4462392 1 6814803 6814804 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025398 M 10847 1 0 "" nsv2801665 1 6814804 6814804 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683137 M 2 1 0 "" nsv3325481 1 6814804 6814804 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14487811,nssv14477968,nssv14476382 M 14 3 0 "" CHM13,HG00514,HG02106 nsv3561843 1 6814818 6814818 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14306350,nssv14306349 M 9 2 0 "" HG00512,HG00514 nsv5678688 1 6814818 6814818 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17207150,nssv17203586 M 3202 2 0 "" nsv6242241 1 6814818 6814818 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17849461 M 1021 1 0 "" nsv6544854 1 6815172 6815471 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251285 M 19652 0 0 "" nsv4034750 1 6820034 6830094 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962914 M 10847 1 0 "" nsv4043007 1 6822000 6835000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855073 M 10847 0 1 "" nsv4048536 1 6829782 6836196 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855081 M 10847 0 1 "" nsv6326412 1 6832808 6834314 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062689 M 19652 0 1 "" nsv4048412 1 6832812 6834314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855091 M 10847 0 1 "" nsv3200527 1 6833501 6833824 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14307341 M 9 0 1 "" HG00731 nsv5984671 1 6834850 6834987 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521415 M 405 0 1 "" nsv3204794 1 6834853 6835376 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14306891 M 9 0 1 "" NA19240 nsv5871780 1 6834906 6841463 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372500 M 914 0 1 "" nsv6539280 1 6835031 6835246 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251288 M 19652 0 0 "" nsv4037567 1 6842000 6848000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962924 M 10847 1 0 CAMTA1 nsv5421595 1 6842160 6842274 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906936 M 3202 0 1 "" nsv6242670 1 6845271 6845271 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17849542 M 1021 1 0 "" nsv1076034 1 6845399 6846100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768037 M 1 0 1 CAMTA1 KWP1 nsv5418704 1 6847936 6848205 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906938 M 3202 0 1 CAMTA1 nsv4462001 1 6849257 6849258 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025407 M 10847 1 0 CAMTA1 nsv5680457 1 6849267 6849267 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203587,nssv17211419 M 3202 2 0 CAMTA1 nsv5402936 1 6849267 6849318 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906940 M 3202 1 0 CAMTA1 nsv6334937 1 6850096 6852265 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204318 M 19652 1 0 CAMTA1 nsv4046152 1 6850853 6850989 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855099 M 10847 0 1 CAMTA1 nsv5685846 1 6852011 6852011 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17211894 M 3202 1 0 CAMTA1 esv1979443 1 6858542 6858971 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4873252 M 1 0 1 CAMTA1 NA18507 esv2740139 1 6858553 6858864 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6871703,essv6853214,essv6895835,essv6800487,essv6863940,essv6916551,essv6880412,essv6784979,essv6925675,essv6766528,essv6780852,essv6714228,essv6813159,essv6821165,essv6703849,essv6710566,essv6707251,essv6954719,essv6721993,essv6836179,essv6946478,essv6921701,essv6910026,essv6718152,essv6689250,essv6793269,essv6972312,essv6902516,essv6804392,essv6797435,essv6801609,essv6807361 M 96 0 32 CAMTA1 SSM002,SSM003,SSM013,SSM015,SSM018,SSM019,SSM024,SSM026,SSM029,SSM036,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM064,SSM068,SSM069,SSM071,SSM072,SSM073,SSM074,SSM075,SSM077,SSM079,SSM083,SSM087,SSM089,SSM091,SSM094,SSM099 esv3540344 1 6858622 6858843 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9739091 M 767 0 1 CAMTA1 nsv3324506 1 6858641 6858705 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14482406 M 14 0 1 CAMTA1 HX1 nsv4741758 1 6858644 6858823 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278877 M 25 0 1 CAMTA1 nsv955443 1 6858651 6858820 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000445 M 1 0 1 CAMTA1 BILGI_BIOE nsv5881692 1 6858652 6858828 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375415 M 914 0 1 CAMTA1 nsv3927247 1 6858652 6858829 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180907 M 1 0 1 CAMTA1 HG002 esv1086035 1 6858652 6858831 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3780745 M 2 0 1 CAMTA1 HuRef nsv3525720 1 6858652 6858832 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14306555,nssv14306556 M 9 0 2 CAMTA1 HG00512,HG00514 nsv3176986 1 6858653 6858831 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438985 M 9 0 1 CAMTA1 HG00514 nsv5984804 1 6858653 6858832 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525064 M 405 0 1 CAMTA1 nsv5565719 1 6858655 6858831 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066064 M 35 0 1 CAMTA1 HG00512 esv999225 1 6858656 6858832 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3581910 M 3 0 1 CAMTA1 HuRef nsv2801998 1 6858660 6858772 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13692626 M 2 0 1 CAMTA1 nsv3324507 1 6858660 6858772 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14472870,nssv14474563,nssv14483541,nssv14475327 M 14 0 4 CAMTA1 CHM13,HG00514,HG02059,HG02818 nsv6138012 1 6858660 6859065 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906941 M 3202 0 1 CAMTA1 nsv2802306 1 6858786 6858851 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13695545 M 2 0 1 CAMTA1 nsv3324741 1 6858786 6858851 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14489101 M 14 0 1 CAMTA1 CHM13 esv3585114 1 6861163 6861821 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846130,essv9846131 M 2504 0 2 CAMTA1 NA18909,NA19916 nsv5432526 1 6861298 6861917 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906942 M 3202 0 1 CAMTA1 nsv6334044 1 6861298 6861917 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062704 M 19652 0 1 CAMTA1 esv25521 1 6861345 6861918 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv20468 M 40 0 1 CAMTA1 NA18909 nsv4034301 1 6861418 6861917 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855106 M 10847 0 1 CAMTA1 nsv5887534 1 6867594 6867719 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385459 M 914 0 1 CAMTA1 nsv5984722 1 6867594 6867719 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536615 M 405 0 1 CAMTA1 nsv4034029 1 6867603 6867722 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855114 M 10847 0 1 CAMTA1 nsv6330156 1 6874369 6874946 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062713 M 19652 0 1 CAMTA1 nsv6043936 1 6876749 6876749 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529595 M 405 1 0 CAMTA1 nsv6541877 1 6878324 6878888 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251293 M 19652 0 0 CAMTA1 nsv6251803 1 6884868 6884868 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17851260 M 1021 1 0 CAMTA1 nsv6323561 1 6890355 6895084 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062721 M 19652 0 1 CAMTA1 esv3668619 1 6898761 6898761 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490961 M 20 1 0 CAMTA1 nsv6552683 1 6920921 6921139 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251308 M 19652 0 0 CAMTA1 nsv5984675 1 6922862 6923007 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535082 M 405 0 1 CAMTA1 nsv5617924 1 6928167 6928167 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066071 M 35 1 0 CAMTA1 HG01114 nsv5961043 1 6928167 6928167 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17373175 M 914 1 0 CAMTA1 nsv3324508 1 6928168 6928168 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14473739 M 14 1 0 CAMTA1 HG01352 nsv5553598 1 6928184 6928218 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906946 M 3202 1 0 CAMTA1 nsv5674874 1 6934753 6934753 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17212647,nssv17203588 M 3202 2 0 CAMTA1 nsv5403395 1 6934753 6934804 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906948 M 3202 1 0 CAMTA1 nsv4034808 1 6960115 6962556 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855124 M 10847 0 1 CAMTA1 esv2740250 1 6977037 6977502 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6929046 M 96 0 1 CAMTA1 SSM020 nsv5873960 1 6977218 6977268 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17377092 M 914 0 1 CAMTA1 nsv5984724 1 6977224 6977279 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526412 M 405 0 1 CAMTA1 nsv5683041 1 6980343 6980343 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17216647,nssv17203590 M 3202 2 0 CAMTA1 nsv5407975 1 6980343 6980394 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683918 M 3202 1 0 CAMTA1 nsv4033772 1 6985274 6985717 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855133 M 10847 0 1 CAMTA1 nsv3325486 1 6986449 6986616 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473611 M 14 0 1 CAMTA1 HG02106 nsv4517728 1 6989357 6989486 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854860 M 10847 0 1 CAMTA1 nsv6252452 1 6989912 6989912 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17851938 M 1021 1 0 CAMTA1 nsv3211169 1 6994793 7018958 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259826,nssv14259820,nssv14259823,nssv14259828,nssv14259825,nssv14259827,nssv14259822,nssv14259824,nssv14259821 M 9 9 0 CAMTA1 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5984911 1 6997250 6997900 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528629 M 405 0 1 CAMTA1 nsv6335491 1 6997361 6997666 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204329 M 19652 1 0 CAMTA1 nsv6049524 1 6997400 6997400 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533829 M 405 1 0 CAMTA1 dgv86n152 1 6997494 6997676 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3203679,nsv3192698 M 9 0 9 CAMTA1 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 dgv30n106 1 6997498 6997650 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1124182,nsv1121439 M 2 0 2 CAMTA1 KWS1,KWS2 nsv1075090 1 6997505 6997670 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771983 M 1 0 1 CAMTA1 KWP1 nsv1147277 1 6997514 6997627 CNV deletion John_et_al_2014 26484159 Sequencing nssv4000050 M 1 0 1 CAMTA1 KWB1 nsv3324509 1 6997574 6997574 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481861 M 14 1 0 CAMTA1 HG02106 nsv4751142 1 6997575 6997575 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16290906 M 25 1 0 CAMTA1 nsv3535131 1 6997616 6997616 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440057,nssv14384841 M 9 2 0 CAMTA1 HG00733,NA19240 nsv3926929 1 6997616 6997616 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191496 M 1 1 0 CAMTA1 HG002 nsv5613147 1 6997616 6997616 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066079,nssv17066080 M 35 2 0 CAMTA1 HG00731,NA12329 nsv5956176 1 6997616 6997616 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17378344 M 914 1 0 CAMTA1 nsv6049276 1 6997616 6997616 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525992 M 405 1 0 CAMTA1 nsv3538307 1 6997618 6997618 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413122 M 9 1 0 CAMTA1 HG00514 nsv3058874 1 6997619 6997619 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031623 M 2 1 0 CAMTA1 CHM1 esv3674463 1 6997622 6997677 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16466593 M 20 0 0 CAMTA1 nsv3064144 1 6997623 6997623 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034578 M 2 1 0 CAMTA1 NA12878 nsv2802307 1 6997668 6997668 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695197 M 2 1 0 CAMTA1 nsv3324510 1 6997668 6997668 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477996,nssv14488751,nssv14482330,nssv14479018,nssv14479087,nssv14480656,nssv14491672,nssv14484525,nssv14491264,nssv14473678,nssv14472827,nssv14477163,nssv14472688,nssv14474919 M 14 14 0 CAMTA1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv2802308 1 6997711 6997711 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684369 M 2 1 0 CAMTA1 nsv1075512 1 6997786 6997855 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771408 M 1 0 1 CAMTA1 KWP1 dgv87n152 1 6997787 6997855 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3190475,nsv3200162 M 9 0 4 CAMTA1 HG00512,HG00513,HG00514,HG00731 esv3679712 1 6997787 6997856 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16500945 M 20 0 1 CAMTA1 nsv5984725 1 6997819 6997917 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529245 M 405 0 1 CAMTA1 esv2556451 1 7000416 7001246 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5345164 M 1 1 0 CAMTA1 NA18507 esv3351162 1 7000820 7001039 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652095 M 185 1 0 CAMTA1 NA19240 nsv512714 1 7000943 7000999 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625338 M 1 1 0 CAMTA1 1 nsv4768177 1 7000962 7000962 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16274479 M 25 1 0 CAMTA1 nsv5984807 1 7000963 7001019 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17519477 M 405 1 0 CAMTA1 nsv3537752 1 7000972 7000972 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389992,nssv14440058 M 9 2 0 CAMTA1 HG00733,NA19240 nsv3929332 1 7000972 7000972 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191497 M 1 1 0 CAMTA1 HG002 nsv4444487 1 7000972 7000972 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759430 M 1 1 0 CAMTA1 nsv5615074 1 7000972 7000972 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066082,nssv17066081 M 35 2 0 CAMTA1 HG00512,HG00731 nsv5958051 1 7000972 7000972 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17374476 M 914 1 0 CAMTA1 nsv6049807 1 7000972 7000972 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525950 M 405 1 0 CAMTA1 nsv2802572 1 7000973 7000973 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684156,nssv13691113 M 2 2 0 CAMTA1 nsv3325488 1 7000973 7000973 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491682,nssv14475808,nssv14481103,nssv14475956,nssv14474865,nssv14490048,nssv14485517,nssv14482659,nssv14476269,nssv14478774,nssv14479088,nssv14480387,nssv14483259,nssv14476966 M 14 14 0 CAMTA1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3065764 1 7000977 7000977 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14036960 M 2 1 0 CAMTA1 CHM1 nsv3533549 1 7000983 7000983 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413123 M 9 1 0 CAMTA1 HG00514 nsv3051734 1 7000990 7000990 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031824 M 2 1 0 CAMTA1 NA12878 esv1590628 1 7000995 7000995 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4106152 M 2 1 0 CAMTA1 HuRef nsv4462253 1 7011158 7011159 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025443 M 10847 1 0 CAMTA1 nsv4462405 1 7011591 7011592 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025454 M 10847 1 0 CAMTA1 dgv81n54 1 7014444 7024222 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545272,nsv545271,nsv545270 M 17421 3 0 CAMTA1 nsv4036987 1 7014856 7017580 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854871 M 10847 0 1 CAMTA1 nsv6333754 1 7014856 7017580 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063497 M 19652 0 1 CAMTA1 nsv545273 1 7016109 7023241 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709218 M 17421 0 1 CAMTA1 nsv3930777 1 7017633 7017633 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191498 M 1 1 0 CAMTA1 HG002 nsv5623724 1 7017633 7017633 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066087 M 35 1 0 CAMTA1 NA24385 nsv5875673 1 7017633 7017754 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17384390 M 914 1 0 CAMTA1 nsv4038496 1 7017633 7017755 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962943 M 10847 1 0 CAMTA1 nsv5414985 1 7017633 7017755 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908333 M 3202 1 0 CAMTA1 nsv4444488 1 7017756 7017756 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766525 M 1 1 0 CAMTA1 dgv82n54 1 7020627 7023494 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545276,nsv545275,nsv545274 M 17421 0 3 CAMTA1 nsv1075096 1 7021599 7023700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768873 M 1 0 1 CAMTA1 KWP1 esv28688 1 7022668 7023529 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12322 M 40 0 2 CAMTA1 NA12489,NA18517 dgv83n54 1 7022699 7023292 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545279,nsv545278,nsv545285,nsv545284 M 17421 0 21 CAMTA1 dgv84n54 1 7022699 7023331 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545277,nsv545286 M 17421 2 0 CAMTA1 dgv85n54 1 7022699 7023494 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545282,nsv545281,nsv545280,nsv545290,nsv545288 M 17421 145 45 CAMTA1 nsv545283 1 7022699 7024222 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709431,nssv709433,nssv709430,nssv709429,nssv709432,nssv709428,nssv709427,nssv709426 M 17421 4 4 CAMTA1 dgv86n54 1 7022750 7023438 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545294,nsv545287,nsv545292 M 17421 0 9 CAMTA1 nsv545289 1 7022750 7024222 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709444,nssv709443 M 17421 0 2 CAMTA1 dgv87n54 1 7022774 7023494 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545291,nsv545295,nsv545293 M 17421 3 0 CAMTA1 nsv545296 1 7023187 7023292 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709457 M 17421 0 1 CAMTA1 nsv545297 1 7023187 7023438 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709459,nssv709458 M 17421 0 2 CAMTA1 nsv545298 1 7023292 7023438 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709460 M 17421 0 1 CAMTA1 nsv5534334 1 7039749 7039792 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683919 M 3202 1 0 CAMTA1 nsv5582897 1 7039852 7039904 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066098 M 35 0 1 CAMTA1 NA24385 nsv3927292 1 7039852 7039905 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180909 M 1 0 1 CAMTA1 HG002 nsv4449245 1 7039852 7039905 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15764617 M 1 0 1 CAMTA1 nsv3325494 1 7039853 7039905 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479469 M 14 0 1 CAMTA1 HG02818 nsv4516665 1 7039877 7039942 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854879 M 10847 0 1 CAMTA1 nsv4047958 1 7039963 7047895 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854889 M 10847 0 1 CAMTA1 nsv6327496 1 7039963 7047895 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063534 M 19652 0 1 CAMTA1 esv2482000 1 7043630 7044699 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5354983 M 1 1 0 CAMTA1 NA18507 nsv4754139 1 7044132 7044132 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16259220 M 25 1 0 CAMTA1 nsv2802309 1 7044147 7044147 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13700839 M 2 1 0 CAMTA1 nsv3324747 1 7044147 7044147 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483096,nssv14488182,nssv14476143,nssv14473296,nssv14486079,nssv14474036,nssv14483793,nssv14490038,nssv14475067,nssv14486896,nssv14474344,nssv14483492,nssv14479124 M 14 13 0 CAMTA1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 esv3668659 1 7044150 7044150 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16490998 M 20 1 0 CAMTA1 nsv3948489 1 7044150 7044150 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191508 M 1 1 0 CAMTA1 HG002 nsv5620172 1 7044150 7044150 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066099 M 35 1 0 CAMTA1 HG00731 nsv5963488 1 7044150 7044150 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17379373 M 914 1 0 CAMTA1 nsv6057566 1 7044150 7044150 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534079 M 405 1 0 CAMTA1 nsv3054079 1 7044151 7044151 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021245 M 2 1 0 CAMTA1 NA12878 nsv3065765 1 7044152 7044152 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035227 M 2 1 0 CAMTA1 CHM1 nsv5726094 1 7044370 7044370 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17233242 M 3202 1 0 CAMTA1 esv3577713 1 7047674 7054607 CNV loss Uddin_et_al_2014 25503493 SNP array essv9789311 M 873 0 1 CAMTA1 400871CM nsv4036317 1 7055377 7056100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854899 M 10847 0 1 CAMTA1 nsv4048024 1 7075770 7075881 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854910 M 10847 0 1 CAMTA1 nsv5882275 1 7075820 7075887 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385991 M 914 0 1 CAMTA1 nsv5984728 1 7075849 7075918 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534475 M 405 0 1 CAMTA1 esv3668687 1 7078188 7078188 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491022 M 20 1 0 CAMTA1 nsv3521470 1 7078188 7078188 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413125 M 9 1 0 CAMTA1 HG00514 nsv3934468 1 7078188 7078188 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191517 M 1 1 0 CAMTA1 HG002 nsv4444489 1 7078188 7078188 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766936 M 1 1 0 CAMTA1 nsv5543602 1 7078188 7078188 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908390 M 3202 1 0 CAMTA1 nsv5615081 1 7078188 7078188 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066106 M 35 1 0 CAMTA1 HG00512 nsv5958057 1 7078188 7078188 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17371092 M 914 1 0 CAMTA1 nsv6049814 1 7078188 7078188 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523851 M 405 1 0 CAMTA1 nsv4537103 1 7078188 7078189 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026024 M 10847 1 0 CAMTA1 nsv2802003 1 7078189 7078189 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13696074 M 2 1 0 CAMTA1 nsv3325178 1 7078189 7078189 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14490056,nssv14489145,nssv14476013,nssv14485029 M 14 4 0 CAMTA1 CHM13,HG02059,HG02818,HX1 nsv4754870 1 7078189 7078189 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16291427 M 25 1 0 CAMTA1 esv988826 1 7078203 7078203 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566621 M 3 1 0 CAMTA1 HuRef nsv4038807 1 7079175 7082384 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855449 M 10847 0 1 CAMTA1 nsv6331149 1 7079175 7082384 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063586 M 19652 0 1 CAMTA1 nsv519205 1 7090216 7099660 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696693 M 2026 0 1 CAMTA1 nsv4462413 1 7093315 7093316 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026033 M 10847 1 0 CAMTA1 nsv3185842 1 7096719 7096838 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375964 M 9 0 0 CAMTA1 NA19240 nsv6323641 1 7110161 7112160 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062371 M 19652 0 1 CAMTA1 nsv5426388 1 7115060 7116296 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908402 M 3202 0 1 CAMTA1 nsv5416051 1 7116338 7119283 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908403 M 3202 0 1 CAMTA1 esv3585117 1 7116417 7119267 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846568 M 2504 0 1 CAMTA1 HG02783 nsv6330058 1 7122251 7124622 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062794 M 19652 0 1 CAMTA1 nsv6543609 1 7123128 7123779 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251358 M 19652 0 0 CAMTA1 nsv5690986 1 7131587 7131587 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203591 M 3202 1 0 CAMTA1 nsv6252563 1 7131587 7131587 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17851939 M 1021 1 0 CAMTA1 nsv4037237 1 7134773 7134840 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855459 M 10847 0 1 CAMTA1 nsv4462021 1 7138566 7138567 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024244 M 10847 1 0 CAMTA1 nsv5681146 1 7138584 7138584 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17217708,nssv17203592 M 3202 2 0 CAMTA1 nsv5398243 1 7138584 7138635 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908405 M 3202 1 0 CAMTA1 nsv4461703 1 7139010 7139011 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024252 M 10847 1 0 CAMTA1 esv990496 1 7147391 7159783 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563883 M 3 0 1 CAMTA1 HuRef nsv5959336 1 7151776 7151776 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17381411 M 914 1 0 CAMTA1 esv2740361 1 7161904 7164364 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6710567,essv6946479 M 96 0 2 CAMTA1 SSM024,SSM042 dgv33e59 1 7163165 7164663 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3448182,esv3439401,esv3449661 M 185 3 0 CAMTA1 NA19238,NA19239,NA19240 nsv1133126 1 7163384 7163482 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987945 M 2 1 0 CAMTA1 KWS1 nsv5868646 1 7163425 7163901 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386746 M 914 0 1 CAMTA1 nsv4517816 1 7163427 7163486 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855140 M 10847 0 1 CAMTA1 esv2740472 1 7163491 7164122 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6946479 M 96 0 1 CAMTA1 SSM024 esv2662615 1 7163578 7164357 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6260308,essv6390151,essv5577675,essv5778939,essv6256694,essv5969131,essv6522841,essv5969894,essv5646313,essv5747126,essv5705913,essv6252777,essv6077806,essv6263300,essv5640023,essv6570341,essv6237058,essv5874213,essv5976154,essv5474307,essv5934358,essv5924077,essv6436368,essv5727031,essv6493628,essv6117906,essv5743362,essv5824214,essv5693690,essv5457577,essv6221904,essv5698996,essv6464000,essv5680446,essv6262940,essv6417169,essv5622472,essv6105011,essv6103376,essv5700612,essv6031050,essv5586182,essv6080785,essv6034742,essv6058189,essv5921160,essv6572989,essv6201308,essv5725971,essv6509693,essv5432162,essv5424552,essv5816558,essv6001304,essv6021253,essv6524729,essv6349849,essv6249994,essv5437676,essv5669141,essv5700439,essv6091553,essv6443521,essv6045115,essv5443323,essv6340463,essv6106189,essv6425611,essv5847072,essv5449031,essv6049204,essv5798197,essv6400414,essv5635531,essv6550476,essv6213322,essv5886921,essv5582425,essv5714957,essv6071423,essv6446225,essv6083569,essv6291866,essv5817572,essv6049724,essv6420161,essv6081756,essv6235026,essv5640425,essv6239833,essv5825273,essv5700801,essv6267698,essv6035854,essv6002793,essv5546239,essv5637918,essv5604783,essv5435379,essv6062663,essv5567262,essv6478572,essv6082374,essv5687811,essv6392068,essv6246335,essv6475526,essv6320692,essv6581149,essv6206663,essv5680344,essv5884386,essv5570529,essv5435741,essv5530572,essv5396873,essv6038791,essv5467949,essv6031455,essv6313096,essv6326297,essv5765955,essv6495505,essv6542582,essv6059252,essv5695078,essv5751967,essv6508293,essv5610386,essv6179144,essv5905901,essv5834837,essv6477117,essv5779219,essv6400365,essv5411888,essv6539568,essv6359511,essv6400012,essv5847007,essv6003699,essv6585810,essv5516164,essv5922783,essv6038926,essv5434901,essv6048810,essv6142381,essv5773932,essv6236128,essv5670913,essv5846026,essv6179353,essv6170669,essv6058443,essv6486681,essv5996400,essv6236961,essv5910254,essv6284032,essv6118440,essv6280102,essv5562667,essv5969769,essv5988896,essv5614526,essv5644272,essv5608651,essv6024967,essv6220693,essv5586530,essv6151036,essv6552907,essv6336524,essv6551273,essv6339704,essv5931053,essv5614360,essv5559070,essv6414758,essv6417621,essv6136763,essv6510586,essv6342382,essv6120183,essv5508229,essv5914269,essv5772741,essv6088475,essv6133354,essv6297745,essv5407192,essv5643917,essv6389571,essv5506112,essv5545314,essv6404374,essv5957709,essv5458066,essv6541165,essv5865612,essv5809862,essv5939466,essv6471790,essv6021950,essv6157214,essv5661113 M 1151 0 207 CAMTA1 HG00106,HG00123,HG00133,HG00138,HG00140,HG00142,HG00148,HG00149,HG00154,HG00157,HG00174,HG00186,HG00187,HG00233,HG00242,HG00245,HG00262,HG00264,HG00272,HG00278,HG00308,HG00311,HG00312,HG00326,HG00336,HG00338,HG00339,HG00342,HG00357,HG00367,HG00380,HG00449,HG00478,HG00479,HG00533,HG00536,HG00537,HG00551,HG00581,HG00589,HG00590,HG00607,HG00626,HG00637,HG00641,HG00657,HG00684,HG00699,HG00701,HG00702,HG00707,HG00736,HG00737,HG00740,HG01048,HG01060,HG01080,HG01101,HG01125,HG01133,HG01134,HG01136,HG01149,HG01170,HG01254,HG01354,HG01365,HG01377,HG01384,HG01491,HG01497,HG01551,NA06989,NA11830,NA12045,NA12155,NA12272,NA12342,NA12347,NA12348,NA12778,NA18488,NA18489,NA18516,NA18519,NA18520,NA18543,NA18550,NA18564,NA18567,NA18611,NA18613,NA18616,NA18617,NA18631,NA18634,NA18637,NA18853,NA18856,NA18867,NA18873,NA18874,NA18908,NA18945,NA18959,NA18963,NA18964,NA18977,NA18982,NA18986,NA18988,NA19007,NA19010,NA19012,NA19060,NA19062,NA19079,NA19084,NA19092,NA19107,NA19130,NA19172,NA19189,NA19213,NA19223,NA19247,NA19248,NA19256,NA19312,NA19313,NA19315,NA19324,NA19327,NA19331,NA19334,NA19346,NA19350,NA19360,NA19376,NA19382,NA19384,NA19390,NA19396,NA19397,NA19428,NA19431,NA19435,NA19436,NA19439,NA19440,NA19443,NA19445,NA19448,NA19449,NA19452,NA19457,NA19463,NA19467,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19648,NA19658,NA19661,NA19676,NA19678,NA19685,NA19700,NA19701,NA19712,NA19713,NA19746,NA19780,NA19818,NA19819,NA19834,NA19900,NA19901,NA19916,NA19917,NA19982,NA20127,NA20332,NA20348,NA20510,NA20521,NA20533,NA20537,NA20541,NA20581,NA20757,NA20759,NA20770,NA20771,NA20785,NA20786,NA20787,NA20792,NA20796,NA20800,NA20802,NA20809,NA20810 nsv1075515 1 7163893 7163974 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763525 M 1 0 1 CAMTA1 KWP1 nsv1145316 1 7163894 7163974 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982409 M 2 0 1 CAMTA1 KWS1 esv2444029 1 7164106 7164254 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5208770 M 1 0 1 CAMTA1 NA18507 nsv1076048 1 7164109 7164192 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762850 M 1 0 1 CAMTA1 KWP1 nsv4049932 1 7171000 7247200 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962951 M 10847 1 0 CAMTA1 nsv3187815 1 7173704 7173869 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380845 M 9 0 0 CAMTA1 NA19240 esv2740584 1 7174710 7175533 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880413,essv6816569,essv6859171,essv6916562,essv6863941,essv6729605,essv6895836,essv6668923,essv6888994,essv6784980,essv6898595,essv6906090,essv6888993,essv6846994,essv6859172,essv6756539,essv6929047,essv6766529,essv6750584,essv6937661,essv6696981,essv6668922,essv6682814,essv6824967,essv6816621,essv6810331,essv6843754,essv6703850,essv6954720,essv6735968,essv6961535,essv6679151,essv6804393,essv6972313,essv6669110,essv6853215,essv6742124 M 96 0 34 CAMTA1 SSM003,SSM005,SSM010,SSM011,SSM014,SSM020,SSM022,SSM026,SSM027,SSM029,SSM031,SSM033,SSM034,SSM038,SSM040,SSM047,SSM050,SSM053,SSM057,SSM059,SSM064,SSM069,SSM074,SSM076,SSM078,SSM080,SSM086,SSM087,SSM088,SSM089,SSM094,SSM097,SSM099,SSM100 nsv6050572 1 7174764 7174764 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521276 M 405 1 0 CAMTA1 esv2740695 1 7174774 7175085 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880413,essv6735968,essv6895836,essv6929047,essv6859171,essv6810331,essv6863941,essv6824967,essv6888993,essv6916562,essv6898595,essv6729605,essv6784980,essv6766529,essv6906090,essv6756539,essv6846994,essv6816569,essv6937661,essv6682814,essv6750584,essv6668922,essv6804393,essv6679151,essv6843754,essv6954720,essv6972313,essv6853215,essv6742124 M 96 0 29 CAMTA1 SSM003,SSM011,SSM014,SSM020,SSM022,SSM026,SSM029,SSM031,SSM033,SSM034,SSM047,SSM050,SSM053,SSM057,SSM059,SSM064,SSM069,SSM074,SSM076,SSM078,SSM080,SSM086,SSM087,SSM088,SSM089,SSM094,SSM097,SSM099,SSM100 nsv5608438 1 7174805 7174805 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066244,nssv17066243 M 35 1 0 CAMTA1 HG00731 nsv3948702 1 7174805 7174902 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180927 M 1 0 1 CAMTA1 HG002 nsv5570844 1 7174805 7174902 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066242 M 35 0 1 CAMTA1 HG00512 nsv5575534 1 7174805 7175147 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066241 M 35 0 1 CAMTA1 HG03125 nsv3064148 1 7174806 7174806 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033397 M 2 1 0 CAMTA1 NA12878 nsv3325500 1 7174806 7174806 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479203 M 14 1 0 CAMTA1 HG02106 nsv2802007 1 7174807 7174904 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690376 M 2 0 1 CAMTA1 nsv3325855 1 7174807 7174904 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490223,nssv14474295,nssv14477755,nssv14472110,nssv14489772,nssv14489482,nssv14489949 M 14 0 7 CAMTA1 CHM1,HG00268,HG00514,HG01352,HG02818,HG04217,NA19434 nsv4731139 1 7174807 7174958 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16288484 M 25 0 1 CAMTA1 nsv3281402 1 7174812 7174910 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412443 M 9 0 1 CAMTA1 HG00514 nsv5984920 1 7174821 7174943 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536231 M 405 0 1 CAMTA1 esv1124399 1 7174845 7175286 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4044198 M 2 0 1 CAMTA1 HuRef nsv3054081 1 7174921 7174921 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032984 M 2 1 0 CAMTA1 NA12878 esv2740806 1 7174997 7175059 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961535 M 96 0 1 CAMTA1 SSM027 nsv3557800 1 7175076 7175076 CNV mobile element insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413126 M 9 1 0 CAMTA1 HG00514 esv3679859 1 7175111 7175701 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501078 M 20 0 1 CAMTA1 esv2740917 1 7175202 7175508 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6668923,essv6703850,essv6669110,essv6859172,essv6696981,essv6888994 M 96 0 6 CAMTA1 SSM005,SSM031,SSM038,SSM040,SSM088,SSM097 nsv5984815 1 7175267 7175697 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518760 M 405 0 1 CAMTA1 nsv5613688 1 7175339 7175339 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066245 M 35 1 0 CAMTA1 HG02818 esv2741028 1 7175354 7175695 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6682815,essv6810333,essv6961536,essv6750585,essv6876632,essv6784981,essv6863943,essv6714229,essv6846995,essv6789135,essv6710568,essv6703851,essv6753481,essv6718155,essv6892307,essv6859173,essv6839959 M 96 0 17 CAMTA1 SSM012,SSM027,SSM034,SSM040,SSM042,SSM043,SSM044,SSM057,SSM058,SSM069,SSM070,SSM076,SSM084,SSM086,SSM088,SSM089,SSM098 nsv3064149 1 7175397 7175397 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14037992 M 2 1 0 CAMTA1 NA12878 nsv5984816 1 7175552 7175700 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536620 M 405 0 1 CAMTA1 nsv2802008 1 7175573 7175573 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690665 M 2 1 0 CAMTA1 nsv3535591 1 7175578 7175578 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440060,nssv14413128 M 9 2 0 CAMTA1 HG00514,HG00733 nsv3325857 1 7175595 7175647 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14801930 M 14 0 1 CAMTA1 HX1 nsv3933956 1 7175601 7175699 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180929 M 1 0 1 CAMTA1 HG002 nsv5571882 1 7175601 7175699 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066246 M 35 0 1 CAMTA1 HG00732 nsv5874713 1 7175601 7175699 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380000 M 914 0 1 CAMTA1 nsv2801672 1 7175602 7175700 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13679325 M 2 0 1 CAMTA1 nsv3324757 1 7175602 7175700 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14801230,nssv14799690,nssv14801189,nssv14804870,nssv14796561,nssv14802909,nssv14799187 M 14 0 7 CAMTA1 CHM1,HG00268,HG00514,HG01352,HG02818,HG04217,NA19434 nsv3231821 1 7175602 7175701 CNV mobile element deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14411930 M 9 0 1 CAMTA1 HG00514 esv2741139 1 7175622 7175693 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961536,essv6846995,essv6972314 M 96 0 3 CAMTA1 SSM027,SSM029,SSM086 nsv1124184 1 7175666 7175757 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975494 M 2 0 1 CAMTA1 KWS1 nsv4035940 1 7177176 7188821 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855149 M 10847 0 1 CAMTA1 nsv6319664 1 7177176 7188821 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062872 M 19652 0 1 CAMTA1 nsv462394 1 7186325 7231484 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538567 M 1557 0 1 CAMTA1 HGDP00797 nsv545299 1 7186325 7231484 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173656 M 17421 0 1 CAMTA1 HGDP00797 esv3585118 1 7189807 7198688 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846569 M 2504 0 1 CAMTA1 NA19309 nsv5433200 1 7190134 7198160 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908406 M 3202 0 1 CAMTA1 nsv4045674 1 7190197 7191214 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962960 M 10847 1 0 CAMTA1 nsv6541102 1 7191359 7191563 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251364 M 19652 0 0 CAMTA1 nsv4044403 1 7192394 7194394 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855158 M 10847 0 1 CAMTA1 nsv6335492 1 7192394 7194394 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062895 M 19652 0 1 CAMTA1 nsv5560661 1 7192538 7192588 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908407 M 3202 1 0 CAMTA1 nsv5730428 1 7192588 7192588 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17244958 M 3202 1 0 CAMTA1 nsv5425900 1 7196136 7197503 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908408 M 3202 0 1 CAMTA1 esv3585119 1 7196138 7197576 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846570 M 2504 0 1 CAMTA1 HG02147 nsv4462272 1 7201391 7201392 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024263 M 10847 1 0 CAMTA1 nsv6319510 1 7210898 7215589 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062921 M 19652 0 1 CAMTA1 nsv6326346 1 7237317 7237550 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062570 M 19652 0 1 CAMTA1 esv3679948 1 7237447 7237595 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501158 M 20 0 1 CAMTA1 nsv3519875 1 7242035 7242035 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387176 M 9 1 0 CAMTA1 NA19240 nsv5607312 1 7242035 7242035 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066253 M 35 1 0 CAMTA1 NA19239 nsv4535122 1 7242035 7242036 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024273 M 10847 1 0 CAMTA1 nsv3561985 1 7242044 7242044 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14308427,nssv14308428 M 9 2 0 CAMTA1 NA19239,NA19240 nsv5682717 1 7242044 7242044 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17229362,nssv17203593 M 3202 2 0 CAMTA1 nsv5401120 1 7242044 7242095 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908410 M 3202 1 0 CAMTA1 nsv6546482 1 7247416 8891959 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251377 M 19652 0 0 CAMTA1,ERRFI1,PARK7,PER3,RERE,SLC45A1,TNFRSF9,UTS2,VAMP3 nsv4040879 1 7263566 7264268 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855175 M 10847 0 1 CAMTA1 nsv4462029 1 7272525 7272526 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024284 M 10847 1 0 CAMTA1 nsv5675114 1 7272540 7272540 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203594,nssv17213619 M 3202 2 0 CAMTA1 nsv6252674 1 7272540 7272540 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17852940 M 1021 1 0 CAMTA1 nsv5394763 1 7272540 7272591 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908411 M 3202 1 0 CAMTA1 nsv4042979 1 7290886 7291202 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855189 M 10847 0 1 CAMTA1 nsv4462280 1 7294090 7294091 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024296 M 10847 1 0 CAMTA1 nsv6053514 1 7294098 7294098 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531481 M 405 1 0 CAMTA1 nsv4462283 1 7307006 7307007 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024304 M 10847 1 0 CAMTA1 nsv4563819 1 7307286 7307287 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788855 M 10847 0 0 CAMTA1 nsv476621 1 7320485 7320485 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013335 M 9 1 0 CAMTA1 NA12878 nsv4462427 1 7320554 7320555 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024313 M 10847 1 0 CAMTA1 dgv10e212 1 7321611 7331314 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577714,esv3577715 M 873 0 2 CAMTA1 401566DD,401908YM esv275496 1 7324468 7325408 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2586154 M 1250 0 1 CAMTA1 nsv4462285 1 7324621 7324622 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023625 M 10847 1 0 CAMTA1 nsv5688624 1 7324638 7324638 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203595,nssv17232088 M 3202 2 0 CAMTA1 nsv5399849 1 7324638 7324689 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908413 M 3202 1 0 CAMTA1 nsv4036665 1 7326257 7326458 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855198 M 10847 0 1 CAMTA1 nsv5955119 1 7332733 7332733 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17381371 M 914 1 0 CAMTA1 nsv4462286 1 7334286 7334287 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023634 M 10847 1 0 CAMTA1 nsv5425299 1 7334715 7334788 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908415 M 3202 1 0 CAMTA1 nsv5623198 1 7336363 7336363 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067210 M 35 1 0 CAMTA1 NA18534 nsv6059329 1 7336363 7336363 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520475 M 405 1 0 CAMTA1 nsv6333121 1 7344277 7349940 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063611 M 19652 0 1 CAMTA1 esv3585122 1 7352610 7374350 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846667 M 2504 0 1 CAMTA1 HG01883 nsv4044543 1 7352638 7374390 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855222 M 10847 0 1 CAMTA1 nsv5417078 1 7352638 7374390 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908422 M 3202 0 1 CAMTA1 nsv6318601 1 7352638 7374390 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063628 M 19652 0 1 CAMTA1 nsv6322533 1 7369396 7370918 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204379 M 19652 1 0 CAMTA1 nsv1116585 1 7370655 7370707 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978769 M 2 1 0 CAMTA1 KWS2 nsv4733394 1 7370661 7370714 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279778 M 25 0 1 CAMTA1 nsv2802315 1 7370661 7370722 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13676555 M 2 0 1 CAMTA1 nsv5577611 1 7370698 7370759 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067215 M 35 0 1 CAMTA1 NA18939 nsv5984736 1 7370706 7370765 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526973 M 405 0 1 CAMTA1 nsv5683465 1 7370741 7370741 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17216544 M 3202 1 0 CAMTA1 nsv5869297 1 7397539 7397711 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380989 M 914 0 1 CAMTA1 nsv5876571 1 7397569 7397625 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383840 M 914 0 1 CAMTA1 esv3541122 1 7397569 7397626 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9739869 M 767 0 1 CAMTA1 nsv5608272 1 7397655 7397655 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067222 M 35 1 0 CAMTA1 NA19239 nsv6056527 1 7397698 7397698 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529767 M 405 1 0 CAMTA1 nsv3532134 1 7397755 7397755 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385721 M 9 1 0 CAMTA1 NA19240 nsv5547530 1 7398079 7398079 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908443 M 3202 1 0 CAMTA1 nsv5961614 1 7398079 7398079 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17375713 M 914 1 0 CAMTA1 nsv4536447 1 7398079 7398080 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026042 M 10847 1 0 CAMTA1 nsv6058345 1 7398080 7398080 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537289 M 405 1 0 CAMTA1 nsv5885604 1 7399734 7399849 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374399 M 914 0 1 CAMTA1 nsv4033302 1 7399735 7399850 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855230 M 10847 0 1 CAMTA1 nsv5422522 1 7399735 7399850 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908454 M 3202 0 1 CAMTA1 nsv5869767 1 7400174 7400291 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387045 M 914 0 1 CAMTA1 nsv1001550 1 7400404 7452010 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3480881 M 11257 1 0 CAMTA1 nsv3170261 1 7402502 7537500 CNV duplication Fu_et_al_2018 29476164 SNP array nssv14244500,nssv14241679 M 93 2 0 CAMTA1 NGO_23,NGO_25 nsv6333665 1 7404980 7405634 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063720 M 19652 0 1 CAMTA1 nsv1410 1 7415626 7439988 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1411 M 9 1 0 CAMTA1 NA19240 nsv6318217 1 7419998 7420564 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063813 M 19652 0 1 CAMTA1 nsv4046291 1 7420000 7420582 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855239 M 10847 0 1 CAMTA1 nsv4044712 1 7420935 7444816 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962966 M 10847 1 0 CAMTA1 nsv6316534 1 7420935 7444816 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204394 M 19652 1 0 CAMTA1 nsv6330431 1 7422310 7423420 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063816 M 19652 0 1 CAMTA1 nsv6317855 1 7427901 7428445 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063828 M 19652 0 1 CAMTA1 nsv6323381 1 7428023 7428087 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063830 M 19652 0 1 CAMTA1 nsv3325195 1 7428228 7428387 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477301 M 14 0 1 CAMTA1 HG04217 nsv5984740 1 7431054 7431399 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517630 M 405 0 1 CAMTA1 nsv6319960 1 7434959 7455705 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063839 M 19652 0 1 CAMTA1 nsv4047395 1 7438137 7439402 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855248 M 10847 0 1 CAMTA1 nsv955211 1 7445001 7450800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001678 M 1 0 1 CAMTA1 BILGI_BIOE nsv4044566 1 7445272 7452379 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855470 M 10847 0 1 CAMTA1 nsv6334325 1 7451212 7452379 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063865 M 19652 0 1 CAMTA1 nsv6333091 1 7451531 7453899 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063866 M 19652 0 1 CAMTA1 nsv4039810 1 7452445 7456892 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855489 M 10847 0 1 CAMTA1 nsv5426174 1 7452445 7456892 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908465 M 3202 0 1 CAMTA1 nsv6328350 1 7452445 7456892 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063868 M 19652 0 1 CAMTA1 nsv6330816 1 7453544 7479423 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204397 M 19652 1 0 CAMTA1 nsv4038679 1 7454681 7454897 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855499 M 10847 0 1 CAMTA1 nsv5424919 1 7454681 7454897 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908476 M 3202 0 1 CAMTA1 nsv4034879 1 7456790 7488006 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15962973 M 10847 1 0 CAMTA1 nsv6317721 1 7459219 7459629 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063879 M 19652 0 1 CAMTA1 nsv6252781 1 7459710 7459710 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853025 M 1021 1 0 CAMTA1 nsv6320573 1 7460961 7461760 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063883 M 19652 0 1 CAMTA1 nsv955212 1 7463401 7469300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001689 M 1 0 1 CAMTA1 BILGI_BIOE nsv5414663 1 7469403 7469947 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908487 M 3202 0 1 CAMTA1 nsv6252890 1 7470846 7470846 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853026 M 1021 1 0 CAMTA1 nsv5415280 1 7475051 7502276 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908498 M 3202 1 0 CAMTA1 nsv955213 1 7477301 7581800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001700 M 1 0 1 CAMTA1 BILGI_BIOE esv3585123 1 7481066 7503506 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846668 M 2504 1 0 CAMTA1 HG03615 esv2666029 1 7483023 7486286 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6204851,essv6179805 M 1151 0 2 CAMTA1 NA19455,NA19472 nsv4033342 1 7483023 7486286 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855509 M 10847 0 1 CAMTA1 nsv5424860 1 7483023 7486286 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683923 M 3202 0 1 CAMTA1 nsv6325951 1 7483023 7486286 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063921 M 19652 0 1 CAMTA1 nsv527338 1 7483046 7486317 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703764 M 2026 0 1 CAMTA1 esv3585124 1 7483051 7486289 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9846670,essv9846672,essv9846669,essv9846673,essv9846671 M 2504 0 5 CAMTA1 HG02643,NA19036,NA19455,NA19472,NA20359 esv3363193 1 7486206 7486290 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8674084 M 185 1 0 CAMTA1 NA19238 nsv5607620 1 7486239 7486239 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067234 M 35 1 0 CAMTA1 NA19238 nsv4534736 1 7486239 7486240 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026052 M 10847 1 0 CAMTA1 esv3345755 1 7486240 7486259 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593491 M 185 1 0 CAMTA1 NA19141 esv3304817 1 7486241 7486242 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7771632,essv7827924,essv7825960,essv7781222,essv7811156,essv7791741,essv7782120 M 185 7 0 CAMTA1 NA18498,NA18508,NA18871,NA19093,NA19108,NA19141,NA19238 esv3421992 1 7486248 7486264 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898524,essv8898521,essv8898522,essv8898520,essv8898523 M 185 5 0 CAMTA1 NA18498,NA18508,NA18871,NA19093,NA19108 nsv5689123 1 7486252 7486252 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17215186,nssv17203596 M 3202 2 0 CAMTA1 nsv5553651 1 7486252 7486295 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908504 M 3202 1 0 CAMTA1 nsv831758 1 7491357 7671673 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1442551,nssv1442562,nssv1442573,nssv1442584 M 95 1 3 CAMTA1 nsv4035454 1 7496689 7505090 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855517 M 10847 0 1 CAMTA1 nsv4046629 1 7499990 7501530 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855527 M 10847 0 1 CAMTA1 nsv5716154 1 7502276 7502276 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17247014 M 3202 1 0 CAMTA1 nsv5558653 1 7502276 7502327 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908506 M 3202 1 0 CAMTA1 nsv4557223 1 7503089 7503987 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788865 M 10847 0 0 CAMTA1 nsv5562016 1 7503092 7503988 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908509 M 3202 0 0 CAMTA1 nsv5549606 1 7503093 7503093 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908520 M 3202 1 0 CAMTA1 nsv6540037 1 7503093 7503988 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253109 M 19652 0 0 CAMTA1 nsv522589 1 7507642 7519264 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705976 M 2026 0 1 CAMTA1 nsv518903 1 7513025 7518698 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696361 M 2026 0 1 CAMTA1 esv2741250 1 7516973 7517136 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6954721 M 96 0 1 CAMTA1 SSM026 nsv6333622 1 7521989 7523776 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063963 M 19652 0 1 CAMTA1 nsv6330828 1 7524104 7527733 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063970 M 19652 0 1 CAMTA1 nsv6252983 1 7532290 7532290 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853050 M 1021 1 0 CAMTA1 esv2741361 1 7533944 7534581 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6816570,essv6748165,essv6756540,essv6967915,essv6750587,essv6950536,essv6883248,essv6972315,essv6753482,essv6933293,essv6853216,essv6759028,essv6742125,essv6747763 M 96 0 14 CAMTA1 SSM008,SSM021,SSM025,SSM028,SSM029,SSM053,SSM056,SSM057,SSM058,SSM059,SSM061,SSM078,SSM087,SSM095 nsv5571953 1 7534195 7534284 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067245 M 35 0 1 CAMTA1 HG03486 nsv5874796 1 7534195 7534284 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381008 M 914 0 1 CAMTA1 esv3680014 1 7534195 7534286 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501217 M 20 0 1 CAMTA1 nsv2801678 1 7534197 7534286 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13693238 M 2 0 1 CAMTA1 nsv3325197 1 7534197 7534286 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14798322,nssv14795959,nssv14798018 M 14 0 3 CAMTA1 CHM1,HG02818,HX1 nsv5984701 1 7534203 7534295 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518791 M 405 0 1 CAMTA1 nsv4734631 1 7534223 7534313 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16266973 M 25 0 1 CAMTA1 nsv1153960 1 7534267 7534327 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003234 M 1 0 1 CAMTA1 KWB1 nsv3325198 1 7534301 7534391 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482400,nssv14490314 M 14 0 2 CAMTA1 HG04217,NA19434 esv3394495 1 7539665 7541163 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692404 M 185 1 0 CAMTA1 NA19240 nsv3200234 1 7540164 7540316 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14307896,nssv14307895 M 9 0 2 CAMTA1 HG00512,HG00514 nsv526782 1 7547212 7549488 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703134 M 2026 0 1 CAMTA1 nsv3221286 1 7552420 7580809 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259851,nssv14259847,nssv14259848,nssv14259845,nssv14259849,nssv14259852,nssv14259846,nssv14259850,nssv14259844 M 9 9 0 CAMTA1 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3652374 1 7552915 7552915 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16476340 M 20 1 0 CAMTA1 esv2661964 1 7552939 7553255 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5543317,essv5460735,essv6294946,essv5563441,essv6293916,essv5767850,essv6519373,essv5631811,essv6359806,essv5519409,essv5930148,essv5455258,essv5659994,essv5770295,essv5837134,essv5976416,essv5654342,essv6388199,essv6496652 M 1151 0 19 CAMTA1 HG00182,HG00268,NA07048,NA07346,NA12272,NA12348,NA12751,NA12775,NA18595,NA19068,NA20537,NA20581,NA20770,NA20773,NA20787,NA20796,NA20807,NA20826,NA20828 esv2647714 1 7552972 7553235 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5309036 M 1 0 1 CAMTA1 NA18507 nsv6553347 1 7552983 7559226 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253116 M 19652 0 0 CAMTA1 nsv1133802 1 7553097 7553154 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969372 M 2 0 1 CAMTA1 KWS2 esv3680116 1 7553301 7553368 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501308 M 20 0 1 CAMTA1 nsv1075104 1 7553377 7553437 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3773000 M 1 0 1 CAMTA1 KWP1 nsv1116586 1 7553390 7553445 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978770 M 2 1 0 CAMTA1 KWS2 esv1935214 1 7553390 7553700 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4549214 M 1 0 1 CAMTA1 NA18507 nsv1122289 1 7553432 7553541 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969740 M 2 0 1 CAMTA1 KWS2 nsv6329495 1 7553501 7571526 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062948 M 19652 0 1 CAMTA1 nsv4040166 1 7556853 7567511 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855543 M 10847 0 1 CAMTA1 nsv527595 1 7557152 7567412 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704056 M 2026 0 1 CAMTA1 nsv545300 1 7557152 7567412 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709461 M 17421 0 1 CAMTA1 dgv34e59 1 7557465 7560763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3369338,esv3370220 M 185 2 0 CAMTA1 NA19239,NA19240 esv3410484 1 7558265 7560463 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692407 M 185 1 0 CAMTA1 NA19238 nsv4048241 1 7558312 7558413 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855554 M 10847 0 1 CAMTA1 nsv5879510 1 7558358 7558412 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17388831 M 914 0 1 CAMTA1 nsv4046542 1 7558358 7558441 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963001 M 10847 1 0 CAMTA1 nsv5984826 1 7558370 7558427 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531989 M 405 0 1 CAMTA1 nsv6322342 1 7558561 7560560 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204418 M 19652 1 0 CAMTA1 esv2741472 1 7558571 7561170 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6668924,essv6836180,essv6937664,essv6784982,essv6937663,essv6821167,essv6925677,essv6710569,essv6925676,essv6895837,essv6950095,essv6686145,essv6941769,essv6753483,essv6937665,essv6859174,essv6921702,essv6898596,essv6946480,essv6898601,essv6954722,essv6910027,essv6913987,essv6972316,essv6902517 M 96 0 21 CAMTA1 SSM004,SSM013,SSM015,SSM016,SSM018,SSM019,SSM022,SSM023,SSM024,SSM026,SSM029,SSM031,SSM035,SSM042,SSM058,SSM069,SSM079,SSM083,SSM088,SSM099,SSM100 nsv1076053 1 7558757 7558811 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764099 M 1 0 1 CAMTA1 KWP1 nsv1113070 1 7558758 7558811 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967961 M 2 0 1 CAMTA1 KWS2 esv2741695 1 7558767 7558973 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6925676 M 96 0 1 CAMTA1 SSM019 dgv3e201 1 7558767 7559448 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2741806,esv2741583 M 96 0 5 CAMTA1 SSM015,SSM019,SSM022,SSM024,SSM069 nsv5880531 1 7558811 7558940 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380220 M 914 0 1 CAMTA1 esv3680146 1 7558868 7558932 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501335 M 20 0 1 CAMTA1 nsv5880386 1 7558875 7559083 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382840 M 914 0 1 CAMTA1 nsv3206552 1 7558915 7559490 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14309491,nssv14309490 M 9 2 0 CAMTA1 HG00512,HG00514 nsv1133804 1 7558972 7559103 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969374 M 2 0 1 CAMTA1 KWS2 nsv1140405 1 7558996 7559069 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979111 M 2 1 0 CAMTA1 KWS2 nsv5984827 1 7559005 7559085 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527353 M 405 0 1 CAMTA1 nsv5984746 1 7559019 7559176 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530602 M 405 0 1 CAMTA1 nsv1075528 1 7559025 7559103 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767800 M 1 0 1 CAMTA1 KWP1 nsv6318621 1 7559044 7559500 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204419 M 19652 1 0 CAMTA1 nsv4033757 1 7559148 7559823 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965164 M 10847 1 0 CAMTA1 esv3680177 1 7559163 7559239 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501363 M 20 0 1 CAMTA1 esv2741917 1 7559176 7560063 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6668924,essv6686145,essv6937664,essv6836180,essv6925677,essv6710569,essv6950095,essv6821167,essv6941769,essv6895837,essv6921702,essv6753483,essv6937665,essv6898601,essv6902517,essv6898596 M 96 0 14 CAMTA1 SSM004,SSM013,SSM018,SSM019,SSM022,SSM023,SSM031,SSM035,SSM042,SSM058,SSM079,SSM083,SSM099,SSM100 nsv1144346 1 7559189 7559264 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995095 M 2 0 1 CAMTA1 KWS1 nsv6317358 1 7559238 7559794 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204420 M 19652 1 0 CAMTA1 nsv5582645 1 7559292 7559368 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067250 M 35 0 1 CAMTA1 HG03486 nsv5984747 1 7559440 7560100 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530986 M 405 0 1 CAMTA1 nsv6324240 1 7559440 7560130 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062951 M 19652 0 1 CAMTA1 nsv2802014 1 7559441 7559441 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692352 M 2 1 0 CAMTA1 nsv3325199 1 7559441 7559441 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481916 M 14 1 0 CAMTA1 CHM1 esv2661908 1 7559443 7560192 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6550513,essv6323846,essv6256312,essv6338713,essv6337763,essv6515957,essv6242215,essv6002886,essv5997726,essv6453030,essv6249502,essv6387039,essv6268374,essv6557749,essv6345359,essv6067706,essv5975923,essv5663358,essv6566368,essv6427001,essv6243910,essv5922093,essv6241832,essv6542409,essv5457551,essv6273213,essv6486219,essv6037941,essv6052009,essv6413800,essv5436826,essv6221071,essv6483131,essv6124063,essv6226576,essv5508604,essv6276685,essv5730675,essv5962151,essv6539128,essv5850234,essv5575074,essv5814285,essv5788311,essv6544631,essv5880716,essv5739381,essv6248487,essv5974102,essv6482932,essv5709998,essv5529359,essv6576540,essv6277708,essv5851944,essv5583577,essv6041331,essv6114357,essv5516870,essv5840912 M 1151 0 60 CAMTA1 HG00106,HG00112,HG00123,HG00125,HG00239,HG00306,HG00418,HG00427,HG00512,HG00525,HG00566,HG00577,HG00580,HG00584,HG00595,HG00608,HG00654,HG00656,HG00663,HG00689,HG00692,HG00702,HG00704,HG00705,HG00707,HG01051,HG01075,HG01183,HG01440,NA11994,NA18549,NA18550,NA18593,NA18596,NA18615,NA18616,NA18623,NA18628,NA18634,NA18635,NA18961,NA18963,NA18984,NA19010,NA19074,NA19075,NA19077,NA19082,NA19130,NA19395,NA19434,NA19449,NA19453,NA19457,NA19684,NA19834,NA20518,NA20521,NA20586,NA20787 nsv6138944 1 7559449 7560130 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908549 M 3202 0 1 CAMTA1 nsv1137723 1 7559452 7559525 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990230 M 2 0 1 CAMTA1 KWS2 nsv5984828 1 7559453 7559528 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533994 M 405 0 1 CAMTA1 nsv2801679 1 7559464 7559464 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689784 M 2 1 0 CAMTA1 nsv3325200 1 7559464 7559464 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478523 M 14 1 0 CAMTA1 CHM1 nsv5573045 1 7559500 7559576 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067251 M 35 0 1 CAMTA1 NA12329 nsv5425508 1 7559501 7559837 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908570 M 3202 0 1 CAMTA1 nsv1116587 1 7559523 7559600 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978771 M 2 1 0 CAMTA1 KWS2 nsv3325871 1 7559537 7559537 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478506,nssv14482342 M 14 2 0 CAMTA1 HG00514,NA19434 nsv3324775 1 7559640 7559741 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473888,nssv14481310 M 14 0 2 CAMTA1 HG00514,NA19434 dgv20n166 1 7559762 7560492 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4517722,nsv4040594 M 10847 2 0 CAMTA1 nsv5618811 1 7559794 7559794 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067252 M 35 1 0 CAMTA1 HG03371 nsv3325872 1 7559795 7559795 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472636 M 14 1 0 CAMTA1 HG01352 nsv1075533 1 7559802 7559854 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767620 M 1 0 1 CAMTA1 KWP1 dgv89n152 1 7559804 7560096 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3197808,nsv3195814 M 9 0 1 CAMTA1 HG00514 nsv2801680 1 7559812 7559862 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690039 M 2 0 1 CAMTA1 nsv3325873 1 7559812 7559862 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474415 M 14 0 1 CAMTA1 CHM1 nsv2802015 1 7559916 7560079 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13681845 M 2 0 1 CAMTA1 nsv3325874 1 7559916 7560079 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477314,nssv14473436,nssv14488942 M 14 0 3 CAMTA1 CHM1,HG00514,NA19434 nsv6330512 1 7559980 7562454 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062953 M 19652 0 1 CAMTA1 nsv4041432 1 7559983 7562454 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855580 M 10847 0 1 CAMTA1 nsv6047741 1 7560236 7560236 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534367 M 405 1 0 CAMTA1 nsv3325201 1 7560248 7560248 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480435 M 14 1 0 CAMTA1 HG00733 nsv5570542 1 7560269 7560339 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067253 M 35 0 1 CAMTA1 NA19983 nsv3536960 1 7560285 7560285 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440061 M 9 1 0 CAMTA1 HG00733 nsv5616147 1 7560318 7560318 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067254 M 35 1 0 CAMTA1 NA19238 nsv5610278 1 7560335 7560335 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067255 M 35 1 0 CAMTA1 HG03683 nsv4753495 1 7560339 7560339 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16289911 M 25 1 0 CAMTA1 nsv5614358 1 7560339 7560339 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067256 M 35 1 0 CAMTA1 HG00731 esv3680215 1 7560339 7560419 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501398 M 20 0 1 CAMTA1 nsv3325514 1 7560340 7560340 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472556,nssv14480456 M 14 2 0 CAMTA1 NA19240,NA19434 nsv3325875 1 7560341 7560341 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472420 M 14 1 0 CAMTA1 HG02818 nsv3535082 1 7560348 7560348 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440062 M 9 1 0 CAMTA1 HG00733 nsv6044717 1 7560353 7560353 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532453 M 405 1 0 CAMTA1 nsv5984702 1 7560357 7560431 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527937 M 405 0 1 CAMTA1 nsv3536534 1 7560379 7560379 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391353 M 9 1 0 CAMTA1 NA19240 nsv3325876 1 7560380 7560380 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477552,nssv14480878,nssv14485623 M 14 3 0 CAMTA1 HG00268,HG01352,HG02059 nsv3941332 1 7560397 7560397 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191531 M 1 1 0 CAMTA1 HG002 nsv3184469 1 7560418 7560489 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392048 M 9 0 0 CAMTA1 NA19240 nsv3325202 1 7560449 7560449 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490923 M 14 1 0 CAMTA1 NA12878 nsv3539068 1 7560458 7560458 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385150 M 9 1 0 CAMTA1 NA19240 nsv826364 1 7566435 7567432 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1421439 M 31 1 0 CAMTA1 NA18997 nsv5565519 1 7567029 7567118 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067258 M 35 0 1 CAMTA1 HG02011 nsv5868712 1 7567029 7567118 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17371507 M 914 0 1 CAMTA1 nsv4050775 1 7567063 7567840 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855589 M 10847 0 1 CAMTA1 nsv545301 1 7567412 7571071 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709462 M 17421 0 1 CAMTA1 nsv7991 1 7568485 7571753 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv26894 M 31 1 0 CAMTA1 NA18860 esv28432 1 7569215 7571521 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv12117 M 40 28 1 CAMTA1 NA06985,NA11931,NA12004,NA12006,NA12156,NA12287,NA12414,NA12489,NA12749,NA12828,NA15510,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19147,NA19190,NA19225,NA19240,NA19257 nsv820592 1 7569215 7571601 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420846 M 1 0 1 CAMTA1 NA10851 nsv826475 1 7569215 7571601 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1421440,nssv1428015,nssv1438581,nssv1431057,nssv1426370,nssv1440113,nssv1431790,nssv1423943,nssv1425484,nssv1430329,nssv1422357,nssv1424725,nssv1427245 M 31 0 13 CAMTA1 AK10,AK16,AK18,AK2,AK20,AK4,AK6,AK8,NA18552,NA18564,NA18582,NA18973,NA18997 esv2592830 1 7569617 7572326 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5286155 M 1 0 1 CAMTA1 NA18507 dgv88n54 1 7569814 7571071 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545307,nsv545302,nsv545311,nsv545313,nsv545312 M 17421 0 11 CAMTA1 dgv89n54 1 7569814 7571463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545306,nsv545303,nsv545310,nsv545316 M 17421 0 91 CAMTA1 esv7233 1 7569814 7571766 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29674 M 1 0 0 CAMTA1 dgv90n54 1 7569814 7572262 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545304,nsv545305 M 17421 0 2 CAMTA1 nsv819302 1 7569818 7571415 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419290 M 2 0 1 CAMTA1 AK1 esv2190574 1 7569911 7571692 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4836092 M 1 0 1 CAMTA1 NA18507 dgv91n54 1 7569976 7571326 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545315,nsv545308,nsv545309,nsv545314 M 17421 0 11 CAMTA1 esv3541344 1 7569992 7571561 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9740091 M 767 0 1 CAMTA1 esv3915 1 7570034 7571684 CNV loss Wang_et_al_2008 18987735 Sequencing essv26356 M 1 0 1 CAMTA1 YH esv2742028 1 7570043 7571536 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6800598,essv6885976,essv6916573,essv6738799,essv6668925,essv6784983,essv6925678,essv6816571,essv6748176,essv6780853,essv6675190,essv6832586,essv6695576,essv6686146,essv6682816,essv6821168,essv6669121,essv6707252,essv6917411,essv6773424,essv6950106,essv6776925,essv6910029,essv6710570,essv6954723,essv6789136,essv6961537,essv6883249,essv6921703,essv6874691,essv6972318,essv6766530,essv6933294,essv6744926,essv6902518,essv6853217,essv6742126,essv6718156,essv6703852,essv6759029,essv6888995,essv6895838,essv6753484,essv6769506,essv6804394,essv6692747,essv6898602 M 96 0 47 CAMTA1 SSM002,SSM003,SSM004,SSM005,SSM006,SSM008,SSM013,SSM015,SSM017,SSM018,SSM019,SSM021,SSM026,SSM027,SSM029,SSM031,SSM032,SSM034,SSM035,SSM037,SSM040,SSM041,SSM042,SSM044,SSM052,SSM053,SSM055,SSM058,SSM061,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM074,SSM078,SSM079,SSM082,SSM087,SSM092,SSM095,SSM096,SSM097,SSM099,SSM100 nsv4739604 1 7570068 7571509 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16262910 M 25 0 1 CAMTA1 nsv3170483 1 7570069 7571137 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413346 M 9 0 0 CAMTA1 HG00514 nsv1074663 1 7570070 7571526 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766869 M 1 0 1 CAMTA1 KWP1 nsv5984748 1 7570071 7571505 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534626 M 405 0 1 CAMTA1 nsv5574257 1 7570071 7571511 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067260 M 35 0 1 CAMTA1 HG00731 nsv5886939 1 7570071 7571517 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374023 M 914 0 1 CAMTA1 esv3683290 1 7570071 7571524 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16468038 M 20 0 0 CAMTA1 dgv31n106 1 7570071 7571526 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1134961,nsv1121065,nsv1120975 M 2 0 1 CAMTA1 KWS2 esv2657512 1 7570071 7571526 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6449470,essv5790430,essv5482762,essv5898881,essv5744317,essv6376701,essv6542461,essv5397363,essv6290633,essv6044362,essv5428010,essv6481631,essv5928849,essv5858235,essv5609761,essv6515447,essv6039563,essv5552465,essv5771428,essv5433597,essv6514311,essv5404078,essv6364050,essv6207963,essv6458057,essv6392822,essv5888481,essv5825537,essv6483263,essv5602417,essv5981620,essv6538809,essv6419778,essv5717552,essv5440192,essv6303084,essv6581519,essv6366589,essv6578015,essv5636594,essv5971897,essv6086542,essv6149199,essv5927521,essv6133433,essv5979160,essv5465801,essv5430800,essv5806520,essv5646630,essv5931759,essv6085784,essv6438446,essv5774461,essv6544861,essv5883741,essv6577034,essv6367627,essv5826648,essv5830971,essv6253213,essv6134386,essv6597320,essv5433351,essv5429536,essv6471769,essv5891446,essv6015013,essv5727746,essv5687666,essv5421776,essv6431057,essv6049159,essv6447140,essv5589809,essv6315369,essv5497751,essv6068568,essv5815954,essv5732462,essv6445191,essv6027439,essv6413777,essv6572516,essv6193427,essv6199820,essv6018100,essv5559722,essv6372156,essv6075734,essv6453378,essv5630336,essv5961649,essv6148159,essv6424790,essv6325203,essv5621444,essv6013738,essv5841667,essv6543277,essv6464636,essv5432008,essv6303691,essv6363517,essv6063213,essv5818092,essv5412555,essv5692329,essv6266308,essv5927894,essv5800783,essv6046099,essv6495337,essv5568082,essv6278813,essv6286695,essv6233645,essv5771007,essv6548964,essv6169504,essv5445583,essv6109378,essv5887358,essv6193468,essv6442157,essv5605115,essv5875330,essv5799224,essv6233292,essv5863502,essv6544648,essv6354985,essv6418480,essv6016935,essv5778687,essv6260423,essv6292739,essv6418911,essv6146355,essv5559985,essv6041407,essv6167253,essv6496136,essv5536940,essv6291742,essv5691391,essv5446598,essv6069004,essv6118990,essv5942501,essv6057755,essv6123121,essv5798315,essv6363379,essv6119227,essv5620153,essv6009563,essv5500732,essv5957916,essv6214231,essv6442019,essv6090700,essv5913542,essv6216050,essv5819410,essv6354211,essv5621944,essv5399289,essv6491045,essv5978907,essv5420861,essv6069629,essv6519589,essv5622190,essv5909185,essv5612440,essv6061070,essv6460683,essv6099962,essv5998324,essv6127324,essv5781061,essv6171336,essv6301711,essv6135664,essv6242378,essv5902435,essv5506505,essv6366028,essv5576898,essv6564812,essv5950392,essv6385424,essv6310275,essv5853039,essv5479781,essv5823780,essv5648473,essv6298889,essv5675761,essv6271138,essv5647981,essv6007472,essv6246172,essv6399921,essv5511424,essv6189325,essv6561443,essv5833907,essv5876669,essv6465910,essv5703541,essv6595199,essv5898397,essv5461375,essv6160626,essv6387037,essv6081607,essv5503175,essv6202404,essv6083900,essv6460438,essv6325429,essv6497319,essv5924719,essv5631596,essv6528378,essv5537806,essv5621604,essv6527507,essv5908549,essv6542778,essv6377227,essv6204790,essv5902353,essv6303515,essv6506715,essv5973166,essv6288927,essv6287100,essv6506775,essv6014564,essv6281857,essv5597762,essv6294648,essv5658671,essv6100322,essv6317995,essv5618196,essv5793684,essv5505561,essv6575482,essv6004098,essv5766898,essv6438064,essv5708133,essv5922932,essv6445705,essv5596979,essv5966237,essv5898893,essv5507085,essv5754165,essv5829887,essv5686531,essv6228501,essv5556929,essv5542914,essv6253385,essv6160948,essv6053521,essv5796224,essv6231964,essv5921143,essv5489293,essv5896582,essv6538832,essv6535980,essv6295813,essv6436832,essv5852805,essv6332805,essv6030341,essv5749177,essv5450460,essv5522275,essv6308899,essv6536764,essv5499302,essv5863653,essv5431607,essv5598326,essv6458151 M 1151 0 293 CAMTA1 HG00096,HG00108,HG00111,HG00123,HG00137,HG00141,HG00145,HG00146,HG00149,HG00150,HG00177,HG00183,HG00185,HG00187,HG00188,HG00189,HG00244,HG00245,HG00246,HG00250,HG00257,HG00258,HG00259,HG00261,HG00263,HG00267,HG00270,HG00276,HG00281,HG00284,HG00309,HG00323,HG00324,HG00326,HG00329,HG00331,HG00334,HG00335,HG00337,HG00339,HG00357,HG00366,HG00372,HG00418,HG00422,HG00427,HG00428,HG00448,HG00463,HG00464,HG00472,HG00476,HG00478,HG00500,HG00501,HG00512,HG00524,HG00525,HG00531,HG00533,HG00534,HG00542,HG00543,HG00554,HG00556,HG00557,HG00560,HG00566,HG00577,HG00584,HG00589,HG00590,HG00595,HG00596,HG00608,HG00628,HG00641,HG00650,HG00653,HG00654,HG00656,HG00657,HG00663,HG00689,HG00692,HG00693,HG00698,HG00702,HG00704,HG00705,HG00707,HG00731,HG00740,HG01047,HG01061,HG01067,HG01072,HG01073,HG01080,HG01082,HG01083,HG01094,HG01107,HG01125,HG01137,HG01168,HG01170,HG01171,HG01174,HG01188,HG01334,HG01342,HG01375,HG01461,HG01497,HG01521,NA06986,NA06989,NA07000,NA07056,NA07346,NA10851,NA11829,NA11843,NA11894,NA11933,NA11993,NA11995,NA12044,NA12058,NA12155,NA12249,NA12272,NA12275,NA12282,NA12286,NA12341,NA12348,NA12414,NA12716,NA12748,NA12750,NA12751,NA12761,NA12763,NA12776,NA12778,NA12878,NA12889,NA12891,NA18507,NA18516,NA18543,NA18545,NA18546,NA18549,NA18550,NA18552,NA18553,NA18557,NA18561,NA18564,NA18565,NA18570,NA18571,NA18574,NA18576,NA18577,NA18579,NA18582,NA18593,NA18596,NA18597,NA18603,NA18608,NA18612,NA18613,NA18616,NA18618,NA18622,NA18623,NA18632,NA18633,NA18634,NA18635,NA18637,NA18638,NA18910,NA18917,NA18940,NA18961,NA18963,NA18971,NA18973,NA18974,NA18976,NA18982,NA18984,NA18985,NA18986,NA18989,NA18990,NA19002,NA19003,NA19004,NA19005,NA19012,NA19054,NA19055,NA19056,NA19058,NA19059,NA19064,NA19065,NA19066,NA19070,NA19074,NA19075,NA19077,NA19082,NA19083,NA19087,NA19107,NA19129,NA19172,NA19201,NA19347,NA19380,NA19382,NA19383,NA19399,NA19428,NA19429,NA19443,NA19455,NA19456,NA19461,NA19463,NA19470,NA19648,NA19652,NA19660,NA19661,NA19663,NA19670,NA19678,NA19681,NA19716,NA19717,NA19719,NA19762,NA19773,NA19776,NA19782,NA19783,NA19900,NA19904,NA19917,NA20291,NA20340,NA20344,NA20502,NA20507,NA20516,NA20524,NA20525,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20540,NA20541,NA20542,NA20586,NA20588,NA20589,NA20754,NA20761,NA20765,NA20769,NA20771,NA20778,NA20801,NA20804,NA20807,NA20808,NA20811,NA20812,NA20816,NA20818,NA20826 nsv4048677 1 7570071 7571526 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855598 M 10847 0 1 CAMTA1 nsv5426848 1 7570071 7571526 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908581 M 3202 0 1 CAMTA1 nsv6328942 1 7570071 7571526 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062973 M 19652 0 1 CAMTA1 nsv4433171 1 7570072 7571526 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15747071,nssv15746793,nssv15752557,nssv15749417,nssv15749931,nssv15749845 M 15 0 6 CAMTA1 BTQ016,NB08,NB09,NB10,SMI034,SMI041 nsv3325878 1 7570073 7571512 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481593,nssv14478448,nssv14475520 M 14 0 3 CAMTA1 HG00514,HG02059,NA12878 nsv3209943 1 7570073 7571524 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14310514,nssv14310515,nssv14310516 M 9 0 3 CAMTA1 HG00512,HG00514,HG00731 nsv958568 1 7570074 7571485 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3004927 M 1 0 1 CAMTA1 BILGI_BIOE esv3585126 1 7570074 7571521 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847464,essv9847102,essv9847451,essv9847108,essv9847404,essv9847112,essv9847424,essv9847089,essv9847428,essv9847118,essv9847469,essv9847107,essv9847411,essv9847103,essv9847398,essv9847099,essv9847413,essv9847090,essv9847472,essv9847116,essv9847415,essv9847084,essv9847437,essv9847117,essv9847432,essv9847086,essv9847388,essv9847114,essv9847408,essv9847120,essv9847410,essv9847127,essv9847426,essv9847109,essv9847380,essv9847119,essv9847403,essv9847115,essv9847463,essv9847096,essv9847425,essv9847123,essv9847395,essv9847098,essv9847456,essv9847078,essv9847402,essv9847082,essv9847381,essv9847079,essv9847391,essv9847122,essv9847436,essv9847125,essv9847393,essv9847121,essv9847427,essv9847097,essv9847431,essv9847081,essv9847443,essv9847077,essv9847466,essv9847085,essv9847412,essv9847092,essv9847455,essv9847128,essv9847420,essv9847129,essv9847392,essv9847104,essv9847394,essv9847106,essv9847405,essv9847093,essv9847458,essv9847124,essv9847423,essv9847083,essv9847407,essv9847113,essv9847438,essv9847087,essv9847441,essv9847105,essv9847452,essv9847110,essv9847444,essv9847088,essv9847400,essv9847126,essv9847383,essv9847080,essv9847470,essv9847111,essv9847386,essv9847094,essv9847445,essv9847091,essv9847430,essv9847101,essv9847457,essv9847100,essv9847448,essv9847095,essv9847453,essv9846931,essv9847013,essv9847389,essv9846876,essv9847026,essv9847442,essv9846911,essv9846967,essv9847390,essv9846914,essv9846965,essv9847449,essv9846851,essv9847043,essv9847447,essv9846837,essv9846963,essv9847401,essv9846930,essv9847011,essv9847387,essv9846833,essv9847048,essv9847468,essv9846860,essv9847073,essv9847450,essv9846915,essv9846993,essv9847421,essv9846897,essv9847052,essv9847459,essv9846869,essv9847059,essv9847446,essv9846892,essv9846994,essv9847382,essv9846894,essv9846984,essv9847475,essv9846823,essv9846976,essv9847471,essv9846861,essv9846971,essv9847461,essv9846854,essv9847069,essv9847384,essv9846859,essv9847036,essv9847419,essv9846896,essv9847063,essv9847454,essv9846880,essv9847058,essv9847462,essv9846924,essv9847035,essv9847473,essv9846864,essv9846980,essv9847465,essv9846829,essv9847031,essv9847406,essv9846885,essv9846973,essv9847399,essv9846821,essv9846987,essv9847434,essv9846921,essv9847039,essv9847474,essv9846875,essv9846999,essv9847409,essv9846909,essv9846975,essv9847435,essv9846848,essv9847071,essv9847439,essv9846912,essv9847018,essv9847460,essv9846926,essv9847014,essv9847476,essv9846828,essv9846964,essv9847417,essv9846844,essv9846968,essv9847416,essv9846878,essv9846932,essv9847385,essv9846883,essv9846991,essv9847422,essv9846866,essv9847037,essv9847433,essv9846893,essv9846949,essv9847440,essv9846920,essv9846944,essv9847467,essv9846827,essv9846983,essv9847396,essv9846834,essv9847065,essv9847418,essv9846817,essv9846934,essv9847397,essv9846820,essv9847060,essv9847429,essv9846853,essv9846937,essv9847414,essv9846908,essv9847046,essv9846865,essv9847009,essv9846891,essv9847012,essv9846902,essv9846956,essv9846841,essv9847019,essv9846871,essv9846947,essv9846918,essv9846961,essv9846822,essv9846938,essv9846919,essv9847070,essv9846852,essv9847017,essv9846868,essv9847025,essv9846824,essv9846959,essv9846888,essv9847005,essv9846910,essv9847034,essv9846839,essv9846950,essv9846874,essv9846948,essv9846845,essv9847003,essv9846849,essv9847007,essv9846905,essv9846997,essv9846840,essv9846940,essv9846916,essv9847047,essv9846901,essv9846990,essv9846907,essv9847061,essv9846889,essv9847053,essv9846867,essv9846933,essv9846870,essv9846969,essv9846825,essv9847021,essv9846850,essv9847016,essv9846836,essv9846989,essv9846922,essv9847050,essv9846927,essv9846995,essv9846818,essv9846977,essv9846847,essv9846957,essv9846872,essv9847054,essv9846900,essv9846953,essv9846884,essv9847044,essv9846843,essv9846979,essv9846904,essv9846951,essv9846838,essv9847041,essv9846899,essv9846978,essv9846906,essv9847056,essv9846903,essv9846966,essv9846925,essv9846974,essv9846923,essv9846935,essv9846898,essv9847051,essv9846857,essv9847067,essv9846863,essv9847010,essv9846830,essv9847049,essv9846858,essv9847001,essv9846881,essv9847040,essv9846887,essv9846936,essv9846826,essv9846958,essv9846895,essv9846960,essv9846913,essv9847042,essv9846832,essv9846986,essv9846879,essv9846985,essv9846886,essv9846972,essv9846831,essv9847022,essv9846890,essv9846962,essv9846846,essv9846945,essv9846842,essv9847030,essv9846855,essv9846988,essv9846877,essv9846946,essv9846835,essv9847000,essv9846862,essv9846970,essv9846882,essv9847038,essv9846928,essv9847033,essv9846819,essv9846941,essv9846917,essv9846982,essv9846856,essv9847057,essv9846873,essv9847008,essv9846929,essv9847075,essv9847360,essv9847027,essv9847288,essv9847068,essv9847316,essv9847006,essv9847293,essv9846954,essv9847354,essv9847020,essv9847264,essv9847076,essv9847327,essv9847004,essv9847284,essv9846955,essv9847349,essv9847062,essv9847340,essv9847002,essv9847368,essv9847055,essv9847297,essv9846996,essv9847295,essv9847045,essv9847269,essv9847064,essv9847256,essv9847072,essv9847351,essv9847029,essv9847301,essv9847066,essv9847364,essv9847024,essv9847334,essv9846943,essv9847350,essv9846992,essv9847367,essv9847032,essv9847362,essv9846942,essv9847359,essv9846939,essv9847292,essv9847074,essv9847338,essv9847015,essv9847257,essv9847028,essv9847260,essv9846998,essv9847335,essv9847023,essv9847372,essv9846952,essv9847315,essv9846981,essv9847342,essv9846806,essv9847318,essv9846757,essv9847311,essv9846795,essv9847357,essv9846758,essv9847267,essv9846789,essv9847291,essv9846759,essv9847337,essv9846760,essv9847352,essv9846807,essv9847317,essv9846761,essv9847353,essv9846812,essv9847329,essv9846762,essv9847308,essv9846804,essv9847277,essv9846797,essv9847307,essv9846763,essv9847310,essv9846805,essv9847296,essv9846813,essv9847319,essv9846764,essv9847263,essv9846765,essv9847365,essv9846799,essv9847363,essv9846766,essv9847259,essv9846816,essv9847326,essv9846767,essv9847304,essv9846768,essv9847286,essv9846746,essv9847333,essv9846792,essv9847331,essv9846747,essv9847268,essv9846800,essv9847375,essv9846769,essv9847348,essv9846770,essv9847272,essv9846808,essv9847271,essv9846771,essv9847324,essv9846815,essv9847320,essv9846772,essv9847283,essv9846773,essv9847366,essv9846774,essv9847299,essv9846748,essv9847314,essv9846814,essv9847344,essv9846775,essv9847345,essv9846796,essv9847270,essv9846749,essv9847347,essv9846750,essv9847290,essv9846776,essv9847339,essv9846777,essv9847278,essv9846801,essv9847373,essv9846778,essv9847355,essv9846798,essv9847265,essv9846779,essv9847294,essv9846793,essv9847356,essv9846751,essv9847361,essv9846802,essv9847262,essv9846780,essv9847370,essv9846752,essv9847313,essv9846781,essv9847312,essv9846791,essv9847323,essv9846782,essv9847289,essv9846794,essv9847378,essv9846783,essv9847285,essv9846753,essv9847376,essv9846784,essv9847321,essv9846811,essv9847322,essv9846790,essv9847306,essv9846785,essv9847275,essv9846803,essv9847379,essv9846754,essv9847300,essv9846755,essv9847279,essv9846809,essv9847343,essv9846756,essv9847298,essv9846786,essv9847336,essv9846787,essv9847377,essv9846788,essv9847330,essv9846810,essv9847274,essv9847147,essv9847280,essv9847251,essv9847369,essv9847191,essv9847374,essv9847190,essv9847258,essv9847192,essv9847325,essv9847239,essv9847302,essv9847176,essv9847332,essv9847224,essv9847346,essv9847184,essv9847341,essv9847134,essv9847328,essv9847221,essv9847358,essv9847157,essv9847282,essv9847175,essv9847261,essv9847205,essv9847371,essv9847218,essv9847276,essv9847217,essv9847273,essv9847226,essv9847281,essv9847250,essv9847305,essv9847142,essv9847266,essv9847241,essv9847303,essv9847153,essv9847309,essv9847186,essv9847287,essv9847138,essv9847202,essv9847229,essv9847171,essv9847234,essv9847150,essv9847141,essv9847183,essv9847159,essv9847237,essv9847235,essv9847194,essv9847144,essv9847156,essv9847169,essv9847151,essv9847243,essv9847255,essv9847170,essv9847163,essv9847189,essv9847206,essv9847180,essv9847200,essv9847213,essv9847225,essv9847223,essv9847252,essv9847133,essv9847246,essv9847208,essv9847227,essv9847135,essv9847211,essv9847248,essv9847196,essv9847164,essv9847198,essv9847247,essv9847179,essv9847148,essv9847195,essv9847136,essv9847185,essv9847203,essv9847182,essv9847215,essv9847249,essv9847161,essv9847240,essv9847193,essv9847143,essv9847222,essv9847166,essv9847204,essv9847178,essv9847245,essv9847242,essv9847244,essv9847214,essv9847207,essv9847236,essv9847209,essv9847220,essv9847152,essv9847231,essv9847146,essv9847232,essv9847210,essv9847233,essv9847173,essv9847131,essv9847212,essv9847155,essv9847197,essv9847177,essv9847149,essv9847130,essv9847154,essv9847238,essv9847201,essv9847158,essv9847187,essv9847216,essv9847137,essv9847188,essv9847140,essv9847132,essv9847168,essv9847145,essv9847174,essv9847219,essv9847228,essv9847199,essv9847253,essv9847160,essv9847254,essv9847165,essv9847172,essv9847181,essv9847162,essv9847139,essv9847167,essv9847230 M 2504 0 731 CAMTA1 HG00096,HG00097,HG00108,HG00110,HG00111,HG00113,HG00118,HG00123,HG00127,HG00129,HG00130,HG00137,HG00141,HG00145,HG00146,HG00149,HG00150,HG00177,HG00183,HG00185,HG00187,HG00188,HG00189,HG00238,HG00240,HG00244,HG00245,HG00246,HG00250,HG00257,HG00258,HG00259,HG00261,HG00263,HG00267,HG00276,HG00281,HG00284,HG00304,HG00309,HG00323,HG00324,HG00326,HG00329,HG00331,HG00332,HG00334,HG00335,HG00337,HG00339,HG00349,HG00350,HG00351,HG00356,HG00357,HG00360,HG00365,HG00366,HG00368,HG00371,HG00372,HG00376,HG00382,HG00410,HG00422,HG00428,HG00446,HG00448,HG00452,HG00463,HG00464,HG00472,HG00476,HG00478,HG00500,HG00524,HG00525,HG00531,HG00533,HG00534,HG00542,HG00543,HG00554,HG00556,HG00557,HG00560,HG00566,HG00584,HG00589,HG00590,HG00595,HG00596,HG00598,HG00608,HG00628,HG00634,HG00637,HG00641,HG00650,HG00653,HG00654,HG00656,HG00657,HG00663,HG00674,HG00675,HG00689,HG00692,HG00693,HG00698,HG00704,HG00705,HG00707,HG00717,HG00731,HG00740,HG00844,HG00867,HG00956,HG00982,HG01028,HG01046,HG01047,HG01049,HG01061,HG01067,HG01072,HG01073,HG01080,HG01082,HG01083,HG01085,HG01088,HG01094,HG01104,HG01105,HG01107,HG01125,HG01130,HG01137,HG01148,HG01161,HG01168,HG01170,HG01171,HG01174,HG01177,HG01188,HG01200,HG01259,HG01280,HG01323,HG01334,HG01341,HG01342,HG01375,HG01392,HG01395,HG01405,HG01413,HG01414,HG01461,HG01497,HG01503,HG01504,HG01518,HG01521,HG01525,HG01528,HG01530,HG01531,HG01566,HG01577,HG01593,HG01597,HG01600,HG01602,HG01603,HG01606,HG01612,HG01615,HG01617,HG01624,HG01628,HG01630,HG01632,HG01668,HG01669,HG01670,HG01673,HG01675,HG01676,HG01679,HG01682,HG01686,HG01695,HG01699,HG01708,HG01757,HG01762,HG01766,HG01767,HG01775,HG01776,HG01777,HG01784,HG01785,HG01797,HG01801,HG01802,HG01804,HG01805,HG01807,HG01810,HG01813,HG01817,HG01840,HG01845,HG01846,HG01847,HG01848,HG01849,HG01850,HG01852,HG01857,HG01858,HG01859,HG01862,HG01864,HG01865,HG01867,HG01869,HG01871,HG01872,HG01874,HG01878,HG01920,HG01932,HG01933,HG01944,HG01977,HG01985,HG02016,HG02017,HG02019,HG02020,HG02025,HG02028,HG02032,HG02040,HG02047,HG02049,HG02050,HG02060,HG02061,HG02069,HG02072,HG02073,HG02076,HG02078,HG02081,HG02082,HG02084,HG02085,HG02086,HG02087,HG02089,HG02113,HG02122,HG02127,HG02128,HG02130,HG02133,HG02136,HG02138,HG02140,HG02144,HG02151,HG02152,HG02154,HG02155,HG02156,HG02164,HG02165,HG02166,HG02178,HG02181,HG02185,HG02186,HG02190,HG02233,HG02235,HG02236,HG02250,HG02253,HG02259,HG02283,HG02291,HG02334,HG02353,HG02355,HG02356,HG02360,HG02364,HG02371,HG02373,HG02374,HG02375,HG02379,HG02380,HG02382,HG02384,HG02385,HG02389,HG02390,HG02391,HG02392,HG02394,HG02396,HG02397,HG02398,HG02399,HG02402,HG02406,HG02407,HG02425,HG02427,HG02439,HG02450,HG02462,HG02470,HG02490,HG02493,HG02494,HG02497,HG02501,HG02508,HG02522,HG02536,HG02541,HG02554,HG02558,HG02585,HG02601,HG02620,HG02629,HG02645,HG02648,HG02657,HG02658,HG02661,HG02667,HG02690,HG02691,HG02731,HG02736,HG02774,HG02778,HG02805,HG02810,HG02836,HG02870,HG02878,HG02881,HG02885,HG02952,HG03006,HG03016,HG03048,HG03057,HG03077,HG03082,HG03111,HG03172,HG03228,HG03229,HG03237,HG03241,HG03258,HG03265,HG03376,HG03385,HG03432,HG03478,HG03479,HG03488,HG03515,HG03594,HG03603,HG03607,HG03611,HG03615,HG03624,HG03629,HG03644,HG03645,HG03667,HG03672,HG03684,HG03687,HG03691,HG03697,HG03711,HG03714,HG03716,HG03727,HG03740,HG03745,HG03746,HG03754,HG03757,HG03762,HG03765,HG03770,HG03771,HG03780,HG03784,HG03792,HG03802,HG03803,HG03805,HG03808,HG03814,HG03823,HG03826,HG03833,HG03836,HG03837,HG03846,HG03850,HG03857,HG03858,HG03867,HG03872,HG03873,HG03888,HG03895,HG03897,HG03913,HG03917,HG03925,HG03928,HG03931,HG03934,HG03941,HG03945,HG03947,HG03950,HG03960,HG03963,HG03971,HG03976,HG03985,HG03998,HG04001,HG04003,HG04019,HG04061,HG04062,HG04090,HG04093,HG04094,HG04107,HG04118,HG04140,HG04141,HG04146,HG04152,HG04155,HG04156,HG04159,HG04173,HG04176,HG04183,HG04185,HG04186,HG04195,HG04198,HG04200,HG04202,HG04209,HG04211,HG04212,HG04222,HG04225,HG04227,NA06986,NA06989,NA06994,NA07000,NA07056,NA10851,NA11829,NA11840,NA11843,NA11893,NA11894,NA11933,NA11995,NA12044,NA12058,NA12155,NA12249,NA12272,NA12275,NA12282,NA12286,NA12341,NA12348,NA12414,NA12716,NA12748,NA12750,NA12751,NA12761,NA12763,NA12776,NA12778,NA12872,NA12873,NA12874,NA12878,NA12889,NA18507,NA18543,NA18545,NA18546,NA18549,NA18550,NA18552,NA18553,NA18557,NA18561,NA18564,NA18565,NA18570,NA18571,NA18574,NA18577,NA18579,NA18582,NA18593,NA18596,NA18597,NA18603,NA18608,NA18612,NA18613,NA18616,NA18618,NA18622,NA18623,NA18629,NA18632,NA18633,NA18634,NA18635,NA18637,NA18638,NA18639,NA18641,NA18644,NA18645,NA18646,NA18648,NA18740,NA18747,NA18865,NA18910,NA18917,NA18934,NA18940,NA18946,NA18954,NA18957,NA18961,NA18963,NA18965,NA18966,NA18971,NA18973,NA18974,NA18976,NA18979,NA18982,NA18984,NA18985,NA18986,NA18989,NA18991,NA18992,NA18993,NA18994,NA18995,NA18997,NA19002,NA19003,NA19004,NA19005,NA19012,NA19020,NA19023,NA19038,NA19041,NA19054,NA19055,NA19056,NA19058,NA19059,NA19064,NA19065,NA19066,NA19070,NA19074,NA19075,NA19077,NA19082,NA19083,NA19086,NA19087,NA19089,NA19095,NA19107,NA19119,NA19129,NA19171,NA19172,NA19201,NA19204,NA19316,NA19320,NA19324,NA19338,NA19347,NA19380,NA19383,NA19399,NA19428,NA19429,NA19443,NA19455,NA19456,NA19461,NA19463,NA19648,NA19652,NA19663,NA19670,NA19678,NA19681,NA19716,NA19717,NA19719,NA19741,NA19750,NA19762,NA19764,NA19773,NA19776,NA19782,NA19783,NA19786,NA19794,NA19900,NA19904,NA19913,NA19917,NA20282,NA20291,NA20339,NA20340,NA20412,NA20502,NA20507,NA20516,NA20524,NA20525,NA20528,NA20529,NA20530,NA20531,NA20534,NA20535,NA20540,NA20541,NA20542,NA20586,NA20588,NA20589,NA20754,NA20761,NA20762,NA20765,NA20769,NA20771,NA20778,NA20801,NA20804,NA20807,NA20808,NA20811,NA20812,NA20818,NA20826,NA20846,NA20849,NA20858,NA20862,NA20866,NA20882,NA20894,NA20897,NA20900,NA20901,NA20905,NA20906,NA21087,NA21095,NA21098,NA21104,NA21105,NA21107,NA21108,NA21109,NA21110,NA21115,NA21119,NA21120,NA21130,NA21135,NA21141 nsv3050502 1 7570074 7571531 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14016215 M 2 0 1 CAMTA1 NA12878 dgv92n54 1 7570076 7571996 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545334,nsv545330,nsv545332,nsv545326,nsv545317,nsv545323 M 17421 0 14 CAMTA1 nsv5830147 1 7570124 7571523 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481218 M 914 0 0 CAMTA1 dgv10n67 1 7570223 7571392 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv826586,nsv826697 M 31 2 0 CAMTA1 NA18968,NA18969 dgv93n54 1 7570232 7571071 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545318,nsv545319 M 17421 0 6 CAMTA1 dgv94n54 1 7570232 7571463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545329,nsv545328,nsv545331,nsv545327,nsv545325,nsv545324,nsv545320,nsv545322,nsv545321 M 17421 0 36 CAMTA1 nsv545333 1 7570560 7571463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709635,nssv709634,nssv709633,nssv709632,nssv709636,nssv709639,nssv709638,nssv709637 M 17421 0 8 CAMTA1 nsv545335 1 7570560 7575666 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709642 M 17421 0 1 CAMTA1 nsv826808 1 7570563 7571143 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436326 M 31 1 0 CAMTA1 NA18542 nsv6317779 1 7571061 7571560 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062974 M 19652 0 1 CAMTA1 nsv3176915 1 7571155 7571527 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412992 M 9 0 0 CAMTA1 HG00514 esv2758918 1 7571463 7688059 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756834 M 270 1 0 CAMTA1 NA19152 nsv1116484 1 7571471 7571526 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3978665 M 2 0 0 CAMTA1 KWS2 nsv1115335 1 7574000 7580100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976387 M 2 1 0 CAMTA1 KWS2 nsv6047785 1 7575177 7575177 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531709 M 405 1 0 CAMTA1 esv3652756 1 7575212 7575212 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16476684 M 20 1 0 CAMTA1 nsv5830646 1 7577466 7580165 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480760 M 914 0 0 CAMTA1 nsv4051960 1 7577645 7580269 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855608 M 10847 0 1 CAMTA1 esv23816 1 7577658 7579878 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15537 M 40 0 1 CAMTA1 NA18916 nsv6319196 1 7577661 7580260 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18062980 M 19652 0 1 CAMTA1 esv3310514 1 7579427 7580855 CNV novel sequence insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843513 M 185 1 0 CAMTA1 NA19240 nsv512715 1 7580156 7580459 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625339 M 1 1 0 CAMTA1 1 esv3347816 1 7580205 7580416 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652098 M 185 1 0 CAMTA1 NA19240 nsv4444490 1 7580260 7580260 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766092 M 1 1 0 CAMTA1 nsv4754559 1 7580272 7580272 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16277270 M 25 1 0 CAMTA1 nsv3534898 1 7580279 7580279 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413129 M 9 1 0 CAMTA1 HG00514 nsv3931909 1 7580279 7580279 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191543,nssv15191536 M 1 1 0 CAMTA1 HG002 nsv5612254 1 7580279 7580279 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066405,nssv17067261 M 35 2 0 CAMTA1 HG00731,HG02492 nsv6047640 1 7580279 7580279 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530468 M 405 1 0 CAMTA1 nsv3325515 1 7580280 7580280 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477617,nssv14487761,nssv14481776,nssv14477256,nssv14485268,nssv14489745 M 14 6 0 CAMTA1 CHM13,HG00268,HG02106,HG02818,HG04217,NA19240 nsv3540020 1 7580284 7580284 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440064 M 9 1 0 CAMTA1 HG00733 nsv3535475 1 7580285 7580285 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376610 M 9 1 0 CAMTA1 NA19240 nsv3325204 1 7580288 7580288 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490994 M 14 1 0 CAMTA1 HG02059 nsv1115336 1 7580400 7584600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976388 M 2 1 0 CAMTA1 KWS2 nsv5871252 1 7583654 7583977 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375218 M 914 0 1 CAMTA1 nsv4033057 1 7585395 7604408 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853411 M 10847 0 1 CAMTA1 nsv4042801 1 7589430 7589509 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853421 M 10847 0 1 CAMTA1 nsv4045283 1 7592065 7592141 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965198 M 10847 1 0 CAMTA1 nsv5416145 1 7592065 7592141 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908603 M 3202 1 0 CAMTA1 nsv4032900 1 7592481 7592567 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853990 M 10847 0 1 CAMTA1 nsv5427641 1 7592481 7592567 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908614 M 3202 0 1 CAMTA1 esv2742139 1 7602525 7602742 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6941770,essv6828991,essv6937666,essv6725840,essv6668926,essv6729606,essv6913988,essv6784984,essv6718809,essv6780854,essv6972319,essv6892308,essv6843873,essv6871704,essv6789137,essv6714230,essv6853218,essv6703853,essv6797436,essv6793270,essv6839960,essv6692748 M 96 0 22 CAMTA1 SSM007,SSM016,SSM022,SSM023,SSM029,SSM031,SSM037,SSM040,SSM043,SSM046,SSM047,SSM068,SSM069,SSM070,SSM071,SSM072,SSM081,SSM084,SSM085,SSM087,SSM091,SSM098 nsv5581775 1 7602613 7602674 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066291 M 35 0 1 CAMTA1 NA19238 nsv5885506 1 7602613 7602674 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17378925 M 914 0 1 CAMTA1 nsv3941085 1 7602613 7602675 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180939 M 1 0 1 CAMTA1 HG002 nsv4449246 1 7602613 7602675 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15758717 M 1 0 1 CAMTA1 dgv90n152 1 7602613 7602676 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3525455,nsv3281917 M 9 0 3 CAMTA1 NA19238,NA19239,NA19240 esv3680337 1 7602613 7602676 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501507 M 20 0 1 CAMTA1 nsv2801682 1 7602615 7602676 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13708202 M 2 0 1 CAMTA1 nsv3325879 1 7602615 7602676 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480115,nssv14476537,nssv14480223,nssv14480601,nssv14480281,nssv14479789,nssv14478003,nssv14489804,nssv14480273 M 14 0 9 CAMTA1 CHM1,CHM13,HG01352,HG02059,HG02818,HG04217,HX1,NA19240,NA19434 nsv1144347 1 7602633 7602695 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995096 M 2 0 1 CAMTA1 KWS1 nsv4738967 1 7602634 7602699 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16284630 M 25 0 1 CAMTA1 nsv5985162 1 7602638 7602702 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526524 M 405 0 1 CAMTA1 esv2742250 1 7608346 7608668 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6789138 M 96 0 1 CAMTA1 SSM070 nsv4051855 1 7608482 7609025 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965209 M 10847 1 0 CAMTA1 esv2742361 1 7608482 7609151 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6748187,essv6824968,essv6929048,essv6729607,essv6668927,essv6813160,essv6954724,essv6686147,essv6961538,essv6703856,essv6950537,essv6703855,essv6972320 M 96 0 12 CAMTA1 SSM008,SSM020,SSM025,SSM026,SSM027,SSM029,SSM031,SSM035,SSM040,SSM047,SSM077,SSM080 esv2742472 1 7608526 7608680 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6729607 M 96 0 1 CAMTA1 SSM047 esv2742583 1 7608579 7608893 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6954724,essv6824968,essv6961538,essv6813160,essv6668927,essv6703855,essv6972320 M 96 0 7 CAMTA1 SSM026,SSM027,SSM029,SSM031,SSM040,SSM077,SSM080 nsv3281638 1 7608683 7608910 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14437407 M 9 0 1 CAMTA1 HG00733 nsv3324779 1 7608696 7609053 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487141,nssv14483218,nssv14488667,nssv14484738,nssv14479085 M 14 0 5 CAMTA1 HG00514,HG00733,HG02106,HX1,NA12878 esv2659209 1 7608707 7608988 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6292677,essv6227062,essv6308050,essv5425830,essv6456482,essv6259671,essv5830392,essv6134379,essv5484759,essv5420525,essv5712548,essv5843249,essv5408562,essv6363270,essv6454559,essv6202094,essv6002095,essv6209120,essv5467230,essv6296113,essv6332746,essv6307472,essv5833833,essv5969456,essv5867425,essv6425308,essv6370362,essv5869401,essv5945474,essv6177373,essv5974689,essv5479911,essv6171580,essv5859553,essv6491493,essv5502203,essv5606710,essv5596229,essv6449723,essv6047007,essv5758254,essv6364686,essv6448015,essv6082159,essv6381961,essv5818796,essv5780800,essv6197629,essv6483714,essv5734717,essv6172097,essv5731775,essv5706883,essv6181882,essv6011559,essv5598963,essv5767932,essv6046646,essv5922415,essv5897976,essv5621963,essv6521117,essv5706547,essv5463301,essv6481233,essv5552184,essv5424543,essv6560388,essv6023491,essv6508398,essv5777606 M 1151 0 71 CAMTA1 HG00111,HG00125,HG00154,HG00265,HG00277,HG00313,HG00319,HG00321,HG00323,HG00330,HG00342,HG00345,HG00369,HG00418,HG00427,HG00463,HG00475,HG00500,HG00512,HG00524,HG00534,HG00581,HG00589,HG00654,HG00657,HG00662,HG00671,HG00699,HG00701,HG00707,HG00708,HG01051,HG01052,HG01061,HG01067,HG01069,HG01070,HG01072,HG01079,HG01082,HG01102,HG01112,HG01251,HG01334,HG01354,HG01389,HG01437,HG01518,NA12829,NA12889,NA18530,NA18559,NA18563,NA18564,NA18595,NA18597,NA18602,NA18610,NA18635,NA18949,NA18956,NA19327,NA19663,NA19707,NA19731,NA19758,NA19762,NA19773,NA19785,NA19786,NA20299 esv3541455 1 7608713 7608994 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9740202 M 767 0 1 CAMTA1 nsv4730296 1 7608715 7608944 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16271589 M 25 0 1 CAMTA1 nsv3282604 1 7608725 7609063 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412641 M 9 0 1 CAMTA1 HG00514 esv993163 1 7608732 7608958 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3579404 M 3 0 1 CAMTA1 HuRef nsv5574527 1 7608732 7608958 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066293 M 35 0 1 CAMTA1 HG00731 nsv3949532 1 7608732 7608959 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180943 M 1 0 1 CAMTA1 HG002 nsv5984704 1 7608732 7608959 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521432 M 405 0 1 CAMTA1 esv3680380 1 7608732 7608960 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501546 M 20 0 1 CAMTA1 nsv5413999 1 7608735 7608959 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908619 M 3202 0 1 CAMTA1 esv2742694 1 7608735 7609087 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6686147,essv6929048,essv6703856,essv6954724,essv6961538,essv6950537,essv6972320,essv6668927 M 96 0 8 CAMTA1 SSM020,SSM025,SSM026,SSM027,SSM029,SSM031,SSM035,SSM040 esv1611358 1 7608740 7608967 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3860626 M 2 0 1 CAMTA1 HuRef esv2742806 1 7608742 7608969 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6954724,essv6686147,essv6961538,essv6972320,essv6668927 M 96 0 5 CAMTA1 SSM026,SSM027,SSM029,SSM031,SSM035 nsv955214 1 7609601 7749000 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001711 M 1 0 1 CAMTA1 BILGI_BIOE nsv6329039 1 7611228 7611861 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064039 M 19652 0 1 CAMTA1 nsv4033075 1 7619315 7623184 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855617 M 10847 0 1 CAMTA1 nsv5871536 1 7621738 7621796 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382619 M 914 0 1 CAMTA1 nsv6331442 1 7621846 7671826 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064052 M 19652 0 1 CAMTA1 nsv1011512 1 7622453 7666975 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696765 M 11257 0 1 CAMTA1 dgv35e59 1 7627565 7630163 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3413631,esv3352384,esv3418027 M 185 3 0 CAMTA1 NA19238,NA19239,NA19240 nsv1153206 1 7627599 7630000 CNV duplication John_et_al_2014 26484159 Sequencing nssv4001123 M 1 1 0 CAMTA1 KWB1 nsv1124559 1 7628000 7629900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976613 M 2 1 0 CAMTA1 KWS2 nsv1076313 1 7628199 7629700 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3769725 M 1 1 0 CAMTA1 KWP1 nsv5884441 1 7628359 7628498 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17388492 M 914 0 1 CAMTA1 esv2764250 1 7630724 7635207 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004919,essv7004920 M 1109 0 2 CAMTA1 RW_0530,RW_0546 nsv4033115 1 7633588 7634165 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855626 M 10847 0 1 CAMTA1 nsv4767243 1 7634164 7634164 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16294708 M 25 1 0 CAMTA1 nsv3561720 1 7634165 7634165 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14311821,nssv14311823,nssv14311822 M 9 3 0 CAMTA1 NA19238,NA19239,NA19240 nsv5553661 1 7634165 7634165 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908620 M 3202 1 0 CAMTA1 nsv5624283 1 7634165 7634165 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066297 M 35 1 0 CAMTA1 NA19238 nsv5967405 1 7634165 7634165 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17383077 M 914 1 0 CAMTA1 nsv6060435 1 7634165 7634165 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528851 M 405 1 0 CAMTA1 nsv3175254 1 7634165 7634473 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387712 M 9 0 0 CAMTA1 NA19240 nsv3325880 1 7634166 7634166 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490966,nssv14487731,nssv14474319,nssv14474401 M 14 4 0 CAMTA1 HG02818,HG04217,NA19240,NA19434 nsv4533820 1 7635929 7635930 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026069 M 10847 1 0 CAMTA1 nsv6322677 1 7636175 7639625 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064060 M 19652 0 1 CAMTA1 nsv520077 1 7637979 7644802 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697212 M 2026 0 1 CAMTA1 nsv4051886 1 7639064 7641591 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856007 M 10847 0 1 CAMTA1 esv3585127 1 7645725 7648453 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847491,essv9847486,essv9847482,essv9847487,essv9847485,essv9847481,essv9847488,essv9847484,essv9847483,essv9847490,essv9847477,essv9847489,essv9847478,essv9847492,essv9847480,essv9847479 M 2504 0 16 CAMTA1 HG01247,HG01894,HG02433,HG02450,HG02485,HG02546,HG03136,NA19026,NA19035,NA19093,NA19374,NA19383,NA19399,NA19456,NA19916,NA20346 nsv5830649 1 7645736 7648407 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480767 M 914 0 0 CAMTA1 nsv5879326 1 7645754 7648431 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373375 M 914 0 1 CAMTA1 esv2672475 1 7645754 7648432 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6269373,essv6336025,essv6057115,essv5833909,essv5955720 M 1151 0 5 CAMTA1 NA19093,NA19374,NA19383,NA19399,NA19916 nsv4043935 1 7645756 7648432 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856018 M 10847 0 1 CAMTA1 nsv5433051 1 7645756 7648432 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908622 M 3202 0 1 CAMTA1 nsv6324539 1 7645761 7648860 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064065 M 19652 0 1 CAMTA1 nsv6333554 1 7651914 7661142 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204433 M 19652 1 0 CAMTA1 nsv5960807 1 7654177 7654177 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17377985 M 914 1 0 CAMTA1 nsv5544509 1 7654200 7654200 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908623 M 3202 1 0 CAMTA1 nsv5615672 1 7654200 7654200 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066311 M 35 1 0 CAMTA1 HG03486 nsv5985166 1 7661166 7661217 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535813 M 405 0 1 CAMTA1 nsv1132279 1 7662300 7664800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987046 M 2 1 0 CAMTA1 KWS1 nsv6317077 1 7665076 7669074 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064083 M 19652 0 1 CAMTA1 nsv4033293 1 7665105 7669074 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856025 M 10847 0 1 CAMTA1 nsv6551649 1 7667138 7669319 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253142 M 19652 0 0 CAMTA1 esv3680420 1 7673933 7674107 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501582 M 20 0 1 CAMTA1 nsv4461736 1 7674457 7674458 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026099 M 10847 1 0 CAMTA1 nsv5684953 1 7674465 7674465 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203597,nssv17221813 M 3202 2 0 CAMTA1 nsv5402314 1 7674465 7674516 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908625 M 3202 1 0 CAMTA1 nsv5830149 1 7676583 7680732 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481220 M 914 0 0 CAMTA1 nsv5884603 1 7676592 7680697 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385655 M 914 0 1 CAMTA1 nsv5830462 1 7677233 7678532 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481221 M 914 0 0 CAMTA1 nsv4052159 1 7699420 7699525 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965227 M 10847 1 0 CAMTA1 nsv4034061 1 7702425 7703270 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856036 M 10847 0 1 CAMTA1 nsv5578831 1 7703009 7703269 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067262 M 35 0 1 CAMTA1 NA19238 nsv5881883 1 7703009 7703269 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17377214 M 914 0 1 CAMTA1 nsv3526935 1 7703009 7703270 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14311116,nssv14311115 M 9 0 2 CAMTA1 NA19238,NA19240 nsv6334311 1 7703009 7703270 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063127 M 19652 0 1 CAMTA1 nsv3325887 1 7703010 7703270 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479939 M 14 0 1 CAMTA1 NA19240 nsv3188372 1 7703010 7703271 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375606 M 9 0 0 CAMTA1 NA19240 nsv5432568 1 7703013 7703270 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908626 M 3202 0 1 CAMTA1 nsv4033563 1 7703013 7703603 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856047 M 10847 0 1 CAMTA1 nsv5428765 1 7705671 7706427 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908627 M 3202 0 1 CAMTA1 nsv5565665 1 7706076 7706426 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067264 M 35 0 1 CAMTA1 HG02587 nsv5868842 1 7706076 7706426 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376875 M 914 0 1 CAMTA1 nsv5431412 1 7706101 7706648 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908628 M 3202 1 0 CAMTA1 nsv6053091 1 7706381 7706381 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526254 M 405 1 0 CAMTA1 nsv6317790 1 7706458 7706824 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204438 M 19652 1 0 CAMTA1 nsv6329758 1 7707770 7708091 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063135 M 19652 0 1 CAMTA1 nsv4462793 1 7709182 7709183 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026108 M 10847 1 0 CAMTA1 nsv4041354 1 7710374 7711586 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856062 M 10847 0 1 CAMTA1 nsv3195912 1 7710867 7712237 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14309966,nssv14309964,nssv14309969,nssv14309962,nssv14309970,nssv14309963,nssv14309967,nssv14309965,nssv14309968 M 9 9 0 CAMTA1 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 dgv36e59 1 7714465 7715963 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3350641,esv3418679 M 185 2 0 CAMTA1 NA19239,NA19240 esv8105 1 7714607 7715690 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30546 M 1 0 0 CAMTA1 nsv1125168 1 7714969 7715026 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3977973 M 2 1 0 CAMTA1 KWS2 nsv1129456 1 7715013 7715115 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962910 M 2 1 0 CAMTA1 KWS1 esv1977744 1 7715032 7715386 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4674847 M 1 0 1 CAMTA1 NA18507 nsv4049027 1 7715133 7715659 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965237 M 10847 1 0 CAMTA1 nsv1137208 1 7715148 7715308 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975900 M 2 0 1 CAMTA1 KWS1 esv3585129 1 7740841 7743843 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847516,essv9847514,essv9847515,essv9847513 M 2504 0 4 CAMTA1 HG03681,HG03941,NA20847,NA21127 nsv5578059 1 7740890 7743732 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067273 M 35 0 1 CAMTA1 NA20847 nsv4039029 1 7740892 7743733 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856071 M 10847 0 1 CAMTA1 nsv5420216 1 7740892 7743733 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908631 M 3202 0 1 CAMTA1 nsv4032513 1 7742085 7790864 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965247 M 10847 1 0 CAMTA1 nsv5427310 1 7747189 7747251 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908632 M 3202 1 0 CAMTA1 nsv6042223 1 7747190 7747190 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530323 M 405 1 0 CAMTA1 nsv5830754 1 7751070 7755353 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481741 M 914 0 0 CAMTA1 nsv5971855 1 7751149 7755074 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17387706 M 914 0 0 CAMTA1 nsv5886315 1 7760177 7760233 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383524 M 914 0 1 CAMTA1 nsv4049560 1 7760180 7760234 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856080 M 10847 0 1 CAMTA1 nsv5419408 1 7760180 7760234 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906586 M 3202 0 1 CAMTA1 esv28595 1 7763029 7765558 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv13845 M 40 1 0 CAMTA1 NA06985 nsv545336 1 7763214 7765454 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709643 M 17421 0 1 CAMTA1 nsv1121746 1 7763900 7765000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968395 M 2 0 1 CAMTA1 KWS2 nsv953452 1 7764001 7767500 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001723 M 1 0 1 CAMTA1 BILGI_BIOE nsv1075535 1 7764099 7766100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771179 M 1 0 1 CAMTA1 KWP1 nsv4041389 1 7774863 7775593 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856087 M 10847 0 1 CAMTA1 nsv4047992 1 7775096 7781003 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856092 M 10847 0 1 CAMTA1 nsv5419931 1 7775096 7781003 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906602 M 3202 0 1 CAMTA1 nsv6321059 1 7775096 7781003 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063195 M 19652 0 1 CAMTA1 nsv4462059 1 7777111 7777112 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026137 M 10847 1 0 CAMTA1 esv3418854 1 7792078 7792089 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863673 M 185 1 0 CAMTA1 NA12005 esv3585130 1 7803121 7804431 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847527,essv9847522,essv9847518,essv9847524,essv9847521,essv9847520,essv9847526,essv9847523,essv9847519,essv9847525,essv9847517 M 2504 0 11 CAMTA1 HG01170,HG02610,HG03112,HG03127,NA19159,NA19198,NA19332,NA19435,NA19466,NA19703,NA20127 nsv5830470 1 7803156 7804689 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480773 M 914 0 0 CAMTA1 esv2671025 1 7803173 7804451 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5844959,essv6542419,essv5838521,essv5719957,essv6423324 M 1151 0 5 CAMTA1 HG01170,NA19332,NA19435,NA19466,NA19703 nsv4045607 1 7803202 7804440 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856102 M 10847 0 1 CAMTA1 nsv5433462 1 7803202 7804452 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906603 M 3202 0 1 CAMTA1 nsv6318543 1 7803247 7804406 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063216 M 19652 0 1 CAMTA1 nsv4462062 1 7803809 7803810 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026156 M 10847 1 0 CAMTA1 nsv5684836 1 7803822 7803822 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17221570 M 3202 1 0 CAMTA1 nsv5412247 1 7803822 7803870 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906604 M 3202 1 0 CAMTA1 nsv5420655 1 7818230 7818628 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906605 M 3202 0 1 CAMTA1 nsv5676579 1 7820557 7820557 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17229400 M 3202 1 0 CAMTA1 nsv5395238 1 7820557 7820608 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906606 M 3202 1 0 CAMTA1 nsv3111202 1 7827420 7833896 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nssv14099141 M 467 1 0 CAMTA1,VAMP3 sample360 nsv4049786 1 7842359 7842447 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965258 M 10847 1 0 "" nsv1121747 1 7843000 7844500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968396 M 2 0 1 "" KWS2 nsv1075537 1 7843499 7844500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771027 M 1 0 1 "" KWP1 nsv1143433 1 7843600 7844500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980631 M 2 0 1 "" KWS1 esv3693317 1 7845695 7863293 CNV gain Palta_et_al_2015 25853576 SNP array essv16508422 M 199 1 0 PER3 C010116 nsv6318024 1 7848894 7856893 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063232 M 19652 0 1 PER3 nsv4033383 1 7854400 7861000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856119 M 10847 0 1 PER3 nsv161033 1 7856397 7864940 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179611 M 24 PER3 nsv5549351 1 7863424 7863475 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907544 M 3202 1 0 PER3 nsv3523452 1 7863493 7863493 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440065 M 9 1 0 PER3 HG00733 nsv3936297 1 7863493 7863493 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191565 M 1 1 0 PER3 HG002 nsv4444536 1 7863493 7863493 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759388 M 1 1 0 PER3 nsv5618319 1 7863493 7863493 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066446 M 35 1 0 PER3 HG00732 nsv6054368 1 7863493 7863493 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521463 M 405 1 0 PER3 nsv3325226 1 7863494 7863494 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14481675 M 14 1 0 PER3 HG00733 nsv4049831 1 7866953 7867026 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854002 M 10847 0 1 PER3 nsv5421104 1 7883054 7883112 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907574 M 3202 1 0 PER3 nsv6320012 1 7885361 7889560 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204461 M 19652 1 0 PER3 esv2742917 1 7889475 7890364 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6874692,essv6916584,essv6773425,essv6925679,essv6721994,essv6748198,essv6729608,essv6675191,essv6828992,essv6784476,essv6824969,essv6937667,essv6780856,essv6941771,essv6707254,essv6668928,essv6843874,essv6917412,essv6892309,essv6910030,essv6832588,essv6954725,essv6871705,essv6816632,essv6813161,essv6950117,essv6789139,essv6961539,essv6710571,essv6967916,essv6692749,essv6950538,essv6846996,essv6929049,essv6776926,essv6679152,essv6718157,essv6913989,essv6853219,essv6972321,essv6895839,essv6933296,essv6797437,essv6902520,essv6821169,essv6876643,essv6868702,essv6801611,essv6769507,essv6725841,essv6766531,essv6793271,essv6807362,essv6839961 M 96 0 54 PER3 SSM003,SSM004,SSM008,SSM009,SSM010,SSM012,SSM013,SSM015,SSM016,SSM017,SSM019,SSM020,SSM021,SSM022,SSM023,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM033,SSM037,SSM041,SSM042,SSM044,SSM045,SSM046,SSM047,SSM064,SSM065,SSM066,SSM067,SSM068,SSM070,SSM071,SSM072,SSM073,SSM075,SSM077,SSM079,SSM080,SSM081,SSM082,SSM084,SSM085,SSM086,SSM087,SSM090,SSM091,SSM092,SSM098,SSM099 esv2743028 1 7889939 7890032 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961539 M 96 0 1 PER3 SSM027 nsv5584047 1 7889972 7890025 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066452 M 35 0 1 PER3 HG00731 nsv5887044 1 7889972 7890025 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375687 M 914 0 1 PER3 nsv3526171 1 7889972 7890026 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14312112,nssv14312110,nssv14312109,nssv14312111,nssv14312107,nssv14312108,nssv14312113 M 9 0 7 PER3 HG00512,HG00513,HG00514,HG00731,NA19238,NA19239,NA19240 esv3680448 1 7889972 7890027 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501607 M 20 0 1 PER3 nsv3325533 1 7889973 7890026 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489442,nssv14478588,nssv14476432,nssv14482540,nssv14474182,nssv14482555,nssv14483395,nssv14479262,nssv14479231,nssv14472699,nssv14480699,nssv14483027 M 14 0 12 PER3 HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3063379 1 7889973 7890027 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14033755 M 2 0 1 PER3 NA12878 nsv3173313 1 7889973 7890027 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413771,nssv14383291,nssv14439321 M 9 0 0 PER3 HG00514,HG00733,NA19240 esv991458 1 7889987 7890040 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570335 M 3 0 1 PER3 HuRef nsv5984842 1 7889998 7890055 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530703 M 405 0 1 PER3 nsv4745950 1 7890009 7890063 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285784 M 25 0 1 PER3 nsv5878990 1 7890218 7895817 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382109 M 914 0 1 PER3 nsv5883918 1 7896003 7897055 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17379944 M 914 0 1 PER3 nsv477904 1 7898709 7898709 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016187 M 9 1 0 PER3 NA18517 esv3653091 1 7899025 7899025 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16476986 M 20 1 0 PER3 nsv6318838 1 7900442 7914079 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204463 M 19652 1 0 PER3,UTS2 nsv6552311 1 7908350 7908850 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253187 M 19652 0 0 UTS2 esv2660700 1 7908752 7909494 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5452478 M 1151 0 1 UTS2 HG00310 nsv5886325 1 7908777 7909467 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376477 M 914 0 1 UTS2 nsv5427064 1 7908790 7909443 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907596 M 3202 0 1 UTS2 esv3585131 1 7908795 7909513 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847531,essv9847528,essv9847532,essv9847529,essv9847530 M 2504 0 5 UTS2 HG00310,HG01705,HG02224,NA21098,NA21128 nsv4048476 1 7908804 7909432 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854010 M 10847 0 1 UTS2 nsv6319434 1 7908810 7909418 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063274 M 19652 0 1 UTS2 nsv3224181 1 7914185 7926250 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267014 M 9 1 0 "" NA19239 esv3653156 1 7914395 7914395 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477044 M 20 1 0 "" nsv6537416 1 7914418 7916029 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253193 M 19652 0 0 "" nsv4046747 1 7915161 7919864 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854019 M 10847 0 1 "" dgv91n152 1 7916643 7916720 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3175385,nsv3175537 M 9 0 0 "" HG00733,NA19240 esv3668908 1 7916657 7916657 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491221 M 20 1 0 "" nsv3562013 1 7916657 7916657 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14312486,nssv14312485,nssv14312487,nssv14312484,nssv14312488,nssv14312483 M 9 6 0 "" HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4760987 1 7916657 7916657 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16259923 M 25 1 0 "" nsv5607050 1 7916657 7916657 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066458 M 35 1 0 "" HG00731 nsv5950417 1 7916657 7916657 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17385809 M 914 1 0 "" nsv6043404 1 7916657 7916657 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533968 M 405 1 0 "" nsv2802417 1 7916658 7916658 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677947 M 2 1 0 "" nsv3064153 1 7916658 7916658 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034039 M 2 1 0 "" NA12878 nsv3325227 1 7916658 7916658 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482399,nssv14486519,nssv14480503,nssv14481819,nssv14482686,nssv14476344,nssv14477702 M 14 7 0 "" CHM13,HG00268,HG01352,HG02818,NA12878,NA19240,NA19434 nsv5550428 1 7916658 7916708 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907618 M 3202 1 0 "" esv3451111 1 7916677 7916677 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8701371 M 185 1 0 "" NA12878 nsv5421845 1 7918156 7918247 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907629 M 3202 1 0 "" esv3585132 1 7921468 7952768 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847533 M 2504 1 0 "" NA18941 nsv5423087 1 7921592 7957232 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906807 M 3202 1 0 "" nsv4039123 1 7921592 7957268 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965264 M 10847 1 0 "" esv3567897 1 7921952 7959991 CNV gain Uddin_et_al_2014 25503493 SNP array essv9789644 M 873 1 0 "" 400411TG esv2743139 1 7922901 7923112 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6692750,essv6946481 M 96 0 2 "" SSM024,SSM037 esv2989084 1 7923036 7923115 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7258651 M 1 0 1 "" HuRef nsv4749344 1 7923042 7923125 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16275119 M 25 0 1 "" nsv3928734 1 7923045 7923115 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180951 M 1 0 1 "" HG002 esv3680562 1 7923045 7923141 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501710 M 20 0 1 "" nsv2802593 1 7923047 7923106 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13692046 M 2 0 1 "" nsv3325535 1 7923047 7923106 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485493,nssv14473677 M 14 0 2 "" CHM1,NA19240 esv1585189 1 7923049 7923109 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3804508 M 2 0 1 "" HuRef nsv3937319 1 7923050 7923050 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191573 M 1 1 0 "" HG002 nsv5607258 1 7923050 7923050 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066459 M 35 1 0 "" HG00512 nsv4534503 1 7923050 7923051 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024901 M 10847 1 0 "" dgv92n152 1 7923050 7923110 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3526239,nsv3279742 M 9 0 2 "" NA19238,NA19240 nsv3325905 1 7923051 7923051 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487564 M 14 1 0 "" HG02106 nsv3282559 1 7923070 7923130 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14439695 M 9 0 1 "" HG00733 nsv5984844 1 7923085 7923174 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527324 M 405 0 1 "" nsv5581926 1 7923095 7923173 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066460 M 35 0 1 "" HG00731 nsv6048879 1 7923131 7923131 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527511 M 405 1 0 "" nsv3530702 1 7923164 7923164 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413130 M 9 1 0 "" HG00514 nsv3325536 1 7923187 7923187 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473422,nssv14477435,nssv14479629,nssv14481346 M 14 4 0 "" HG01352,HG02059,HG02818,HX1 esv9095 1 7924866 7925645 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31536 M 1 0 0 "" esv5046 1 7924934 7925672 CNV loss Wang_et_al_2008 18987735 Sequencing essv27487 M 1 0 1 "" YH dgv93n152 1 7924937 7925344 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282471,nsv3280685 M 9 0 2 "" HG00514,NA19240 nsv160721 1 7924937 7925384 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179299 M 24 "" esv2666092 1 7924945 7925336 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5419681,essv6271673,essv5853694,essv5630473,essv6035737,essv5783009,essv6538912,essv6260868,essv6594272,essv5669965,essv5700534,essv6132482,essv6293654,essv6126415,essv5504634,essv5675700,essv5706376,essv6071488,essv5849787,essv5605498,essv5714806,essv5529811,essv6285255,essv5675803,essv6048322,essv6125274,essv5448321,essv5764081,essv5749862,essv6171239,essv5825612,essv5452962,essv6483548,essv6125308,essv5782284,essv5956820,essv6591211,essv5739240,essv6532343,essv6163458,essv5578543,essv6094165,essv5866722,essv5557584,essv6274257,essv6443466,essv6533523,essv6502651,essv5446050,essv5644539,essv6265135,essv6023986,essv6112075,essv6071609,essv6500087,essv5942016,essv5463498,essv6280524,essv6271034,essv5605737,essv6026868,essv6362683,essv6051596,essv5553418,essv5601098,essv5828338,essv5482282,essv5785920,essv6380499,essv5406419,essv6561835,essv5769304,essv6536918,essv6588926,essv6337729,essv5979087,essv6077397,essv6590580,essv5812895,essv6430122,essv6548934,essv5623821,essv6571214,essv5696355,essv6179194,essv5823164,essv5481507,essv5755871,essv6431536,essv6537226,essv6048485,essv6456380,essv5487791,essv5969046,essv5909595,essv6287297,essv5818900,essv6311558,essv5944620,essv6247186,essv5731566,essv6340838,essv5827539,essv5686994,essv6510402,essv5612438,essv5792118,essv6203039,essv6549133,essv6290565,essv5580851,essv6489640,essv5958114,essv5476783,essv5603289,essv6555651,essv6380029,essv5431965,essv5568558,essv6356675,essv5604664,essv5620420,essv5945998,essv6465980,essv6082818,essv6018911,essv6543789,essv5529064,essv5857566,essv5809859,essv5412831,essv5774770,essv5787385,essv5732882,essv6018318,essv6459955,essv5609501,essv6266602,essv6069827,essv5902168,essv5545435,essv5820660,essv6243959,essv5451346,essv6077919,essv6118058,essv6017867,essv5981820,essv5961735,essv5749682,essv6393424,essv5741919,essv5477186,essv6281345,essv6132893,essv5618733,essv6148849,essv5770734,essv6492955,essv6574163,essv5481799,essv5592926,essv5604893,essv5662041,essv6397283,essv6410868,essv6363300,essv6237111,essv5763197,essv6155420,essv6171633,essv6002534,essv6586392,essv6493965,essv5867074,essv6126445,essv6195881,essv5438546,essv6068574,essv6488901,essv6067271,essv5887726,essv5790466,essv5916279,essv6080098,essv5651255,essv6596517,essv5865517,essv5533668,essv5937051,essv6232486,essv5798382,essv6217184,essv5523146,essv6049443,essv6019104,essv5703301,essv6081705,essv5645969,essv6262983,essv5500862,essv6087682,essv5663920,essv5833541,essv5868308,essv5433918,essv6432049,essv6480407,essv6371896,essv5514785,essv6563493,essv6054870,essv5757180,essv6257924,essv5895385,essv5742128,essv6543548,essv6373175,essv5522498,essv5463023,essv5738581,essv5535767,essv6320462,essv6071672,essv6103553,essv5768657,essv5514645,essv6358896,essv5628583,essv6185869,essv6152229,essv6595168 M 1151 0 232 "" HG00108,HG00111,HG00125,HG00154,HG00158,HG00177,HG00236,HG00237,HG00246,HG00249,HG00251,HG00253,HG00257,HG00263,HG00267,HG00271,HG00273,HG00275,HG00276,HG00277,HG00278,HG00281,HG00284,HG00309,HG00315,HG00319,HG00326,HG00328,HG00329,HG00330,HG00331,HG00334,HG00337,HG00339,HG00342,HG00345,HG00346,HG00369,HG00375,HG00403,HG00404,HG00418,HG00419,HG00421,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00531,HG00533,HG00534,HG00536,HG00537,HG00543,HG00556,HG00557,HG00559,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00595,HG00607,HG00608,HG00610,HG00613,HG00614,HG00619,HG00620,HG00626,HG00628,HG00638,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00701,HG00702,HG00704,HG00705,HG00707,HG00740,HG01051,HG01052,HG01061,HG01069,HG01072,HG01073,HG01101,HG01102,HG01107,HG01124,HG01125,HG01133,HG01134,HG01136,HG01148,HG01149,HG01171,HG01173,HG01174,HG01187,HG01342,HG01351,HG01354,HG01366,HG01383,HG01390,HG01440,HG01462,HG01491,HG01492,NA12546,NA18530,NA18532,NA18536,NA18542,NA18543,NA18544,NA18546,NA18548,NA18549,NA18550,NA18557,NA18559,NA18560,NA18561,NA18562,NA18567,NA18574,NA18576,NA18577,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18606,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18619,NA18620,NA18621,NA18623,NA18624,NA18626,NA18627,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18868,NA18941,NA18963,NA18977,NA18984,NA18985,NA18987,NA18990,NA18999,NA19002,NA19007,NA19062,NA19072,NA19075,NA19076,NA19077,NA19080,NA19082,NA19084,NA19085,NA19088,NA19130,NA19312,NA19359,NA19391,NA19396,NA19445,NA19446,NA19455,NA19663,NA19664,NA19681,NA19682,NA19685,NA19716,NA19717,NA19720,NA19723,NA19788,NA19818 nsv5572769 1 7924945 7925392 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066108 M 35 0 1 "" HG00512 esv3680604 1 7924945 7925451 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16501748 M 20 0 1 "" nsv2801687 1 7924947 7925056 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13694184 M 2 0 1 "" nsv3325906 1 7924947 7925056 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490553 M 14 0 1 "" CHM1 nsv3324796 1 7924947 7925337 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478513,nssv14483266,nssv14487920,nssv14484144,nssv14474195 M 14 0 5 "" HG00514,HG02059,HG02106,HX1,NA19240 nsv4735888 1 7924949 7925227 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281639 M 25 0 1 "" nsv5985176 1 7924949 7925393 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536796 M 405 0 1 "" nsv3928902 1 7924951 7925172 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180952 M 1 0 1 "" HG002 nsv5566389 1 7924951 7925172 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066109 M 35 0 1 "" NA24385 esv29691 1 7924952 7925557 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10705 M 40 0 4 "" NA12004,NA12749,NA18502,NA18858 nsv821110 1 7924952 7925557 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420957 M 1 0 1 "" NA10851 nsv3057959 1 7924953 7925120 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14032761 M 2 0 1 "" CHM1 nsv5985177 1 7924967 7925057 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517708 M 405 0 1 "" dgv3n172 1 7924987 7925295 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4433173,nsv4433175,nsv4433178,nsv4433174 M 15 0 4 "" NB07,NB08,NB09,NB12 nsv5429844 1 7924990 7925551 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906840 M 3202 0 1 "" dgv4n172 1 7924991 7925531 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4433176,nsv4433177,nsv4433179 M 15 0 3 "" MDQ010,MDQ045,NB11 esv2743250 1 7924995 7925521 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6883250,essv6906091,essv6885977,essv6669132,essv6721995,essv6748209,essv6718158,essv6695587,essv6729610,essv6668929,essv6756541,essv6682817,essv6761845,essv6917413,essv6824970,essv6941772,essv6780857,essv6666886,essv6863944,essv6929050,essv6832589,essv6816643,essv6707255,essv6843765,essv6843875,essv6950128,essv6892311,essv6950539,essv6789140,essv6967918,essv6710572,essv6954726,essv6776927,essv6972322,essv6747764,essv6913990,essv6773426,essv6910031,essv6874693,essv6679153,essv6853221,essv6937668,essv6742127,essv6902521,essv6868703,essv6725842,essv6797438,essv6895840,essv6793272,essv6807363,essv6888996,essv6821170,essv6804395,essv6898603 M 96 0 54 "" SSM004,SSM005,SSM006,SSM008,SSM010,SSM011,SSM013,SSM014,SSM015,SSM016,SSM017,SSM020,SSM022,SSM023,SSM025,SSM026,SSM028,SSM029,SSM030,SSM031,SSM033,SSM034,SSM041,SSM042,SSM044,SSM045,SSM046,SSM047,SSM053,SSM056,SSM059,SSM062,SSM066,SSM067,SSM068,SSM070,SSM071,SSM072,SSM074,SSM075,SSM079,SSM080,SSM082,SSM085,SSM087,SSM089,SSM090,SSM092,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 nsv3054087 1 7925010 7925010 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031631 M 2 1 0 "" NA12878 nsv2802594 1 7925123 7925177 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13676866 M 2 0 1 "" nsv3325907 1 7925123 7925177 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475864 M 14 0 1 "" CHM1 nsv2802323 1 7925235 7925289 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13679840 M 2 0 1 "" nsv3325228 1 7925235 7925289 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475611,nssv14476255 M 14 0 2 "" CHM1,HG00733 nsv3051741 1 7925290 7925290 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14028432 M 2 1 0 "" NA12878 nsv3325538 1 7925290 7925290 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480358 M 14 1 0 "" NA12878 nsv5617757 1 7925339 7925339 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066110 M 35 1 0 "" HG03125 nsv3325908 1 7925399 7925399 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472979 M 14 1 0 "" HG04217 nsv5579921 1 7925439 7925550 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066111 M 35 0 1 "" HG00731 nsv3325539 1 7925444 7925444 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475133 M 14 1 0 "" NA19240 nsv3538790 1 7925459 7925459 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440067 M 9 1 0 "" HG00733 nsv3325909 1 7925461 7925461 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477408 M 14 1 0 "" NA19434 nsv2802595 1 7925461 7925515 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13695590 M 2 0 1 "" nsv3325229 1 7925461 7925515 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472616,nssv14480972,nssv14485970,nssv14477076,nssv14472118,nssv14486359,nssv14486620 M 14 0 7 "" CHM1,HG00514,HG00733,HG02059,HG02106,HX1,NA19240 dgv94n152 1 7925461 7925536 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3184163,nsv3174972 M 9 0 0 "" HG00514,HG00733,NA19240 nsv6059451 1 7925491 7925491 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521577 M 405 1 0 "" nsv3945205 1 7925496 7925550 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180953 M 1 0 1 "" HG002 nsv5566856 1 7925496 7925550 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066112 M 35 0 1 "" NA24385 nsv4517323 1 7925496 7925551 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854028 M 10847 0 1 "" nsv3537460 1 7925499 7925499 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375844 M 9 1 0 "" NA19240 nsv5984938 1 7925511 7925571 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532760 M 405 0 1 "" nsv5610671 1 7925515 7925515 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066114,nssv17066113 M 35 2 0 "" HG00731,HG03125 nsv3176336 1 7925515 7925574 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440068 M 9 0 0 "" HG00733 nsv3325540 1 7925516 7925516 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472292,nssv14478704 M 14 2 0 "" HG04217,NA19434 nsv3530408 1 7925582 7925582 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440069,nssv14390729 M 9 2 0 "" HG00733,NA19240 nsv6046246 1 7925582 7925582 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531901 M 405 1 0 "" nsv4462675 1 7931882 7931883 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024910 M 10847 1 0 "" nsv1145317 1 7936824 7936885 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982410 M 2 0 1 "" KWS1 nsv5419617 1 7944988 7945212 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906873 M 3202 1 0 "" esv3653398 1 7947100 7947100 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477262 M 20 1 0 "" nsv3209387 1 7947100 7947677 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14313047,nssv14313046 M 9 0 2 "" HG00732,HG00733 nsv6334061 1 7948070 7973575 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204473 M 19652 1 0 "" nsv4044156 1 7948141 7973575 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965271 M 10847 1 0 "" esv3653469 1 7949502 7949502 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477325 M 20 1 0 "" esv2743361 1 7962923 7963335 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6721996,essv6929051,essv6686148,essv6675192,essv6821171,essv6925680,essv6699590,essv6695599,essv6780858,essv6941774,essv6696982,essv6937669,essv6692751,essv6669143,essv6789141,essv6913991,essv6846997,essv6972323,essv6707256,essv6902522,essv6853222,essv6954727,essv6816572,essv6759030,essv6725844,essv6773427,essv6888997,essv6859175,essv6898604,essv6883251 M 96 0 30 "" SSM005,SSM006,SSM013,SSM016,SSM019,SSM020,SSM022,SSM023,SSM026,SSM029,SSM032,SSM035,SSM037,SSM038,SSM039,SSM041,SSM045,SSM046,SSM061,SSM066,SSM068,SSM070,SSM078,SSM079,SSM086,SSM087,SSM088,SSM095,SSM097,SSM100 nsv3282115 1 7963058 7963194 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376332 M 9 0 1 "" NA19240 nsv3325911 1 7963071 7963170 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472521,nssv14472871 M 14 0 2 "" HG04217,HX1 nsv2801688 1 7963072 7963287 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13695863 M 2 0 1 "" nsv3324800 1 7963072 7963287 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479924,nssv14476062,nssv14475461,nssv14474010,nssv14473468,nssv14492002,nssv14477103,nssv14475460,nssv14472381,nssv14473908 M 14 0 10 "" CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,NA12878,NA19240,NA19434 dgv95n152 1 7963082 7963312 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282746,nsv3282935 M 9 0 2 "" HG00514,HG00733 nsv5423048 1 7963091 7963404 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906884 M 3202 0 1 "" esv3541677 1 7963106 7963394 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9740424 M 767 0 1 "" nsv4747121 1 7963107 7963341 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260449 M 25 0 1 "" nsv5623170 1 7963123 7963123 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066126 M 35 1 0 "" HG02587 nsv6059584 1 7963135 7963135 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526783 M 405 1 0 "" nsv5579532 1 7963150 7963383 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066127 M 35 0 1 "" HG00731 nsv3197270 1 7963150 7963384 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14314780,nssv14314781,nssv14314779 M 9 0 3 "" HG00512,HG00513,HG00514 nsv5984940 1 7963153 7963388 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533045 M 405 0 1 "" nsv954686 1 7963167 7963401 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000470 M 1 0 1 "" BILGI_BIOE dgv4e201 1 7963169 7963334 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2740756,esv2743441 M 96 0 2 "" SSM031,SSM089 dgv5e201 1 7963169 7963486 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2743430,esv2740757,esv2741974,esv2742007,esv2741890 M 96 0 6 "" SSM031,SSM072,SSM075,SSM076,SSM080,SSM089 nsv3063386 1 7963190 7963424 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14036265 M 2 0 1 "" NA12878 nsv5616614 1 7963195 7963195 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066128 M 35 1 0 "" HG00864 nsv6059644 1 7963332 7963332 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531331 M 405 1 0 "" nsv6535861 1 7964761 7965297 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253198 M 19652 0 0 "" nsv5984941 1 7967226 7976973 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519082 M 405 0 1 TNFRSF9 nsv6323976 1 7969793 7970962 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064234 M 19652 0 1 "" nsv4033548 1 7969826 7970910 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854039 M 10847 0 1 "" nsv4039804 1 7971398 7971462 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854048 M 10847 0 1 "" nsv5417507 1 7971398 7971462 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906885 M 3202 0 1 "" nsv5882879 1 7971402 7971457 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17388105 M 914 0 1 "" nsv5870227 1 7973171 7973516 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17388365 M 914 1 0 "" nsv6333747 1 7973171 7973517 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204476 M 19652 1 0 "" nsv5414390 1 7973171 7973521 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906886 M 3202 1 0 "" nsv4042514 1 7973195 7973521 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965276 M 10847 1 0 "" esv3302892 1 7973195 7973542 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7736127 M 185 1 0 "" NA19093 nsv1075541 1 7974099 7974500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767494 M 1 0 1 "" KWP1 esv3585133 1 7975281 7978202 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847534 M 2504 0 1 TNFRSF9 HG01531 nsv6333001 1 7975361 7978360 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064239 M 19652 0 1 TNFRSF9 esv2678721 1 7975392 7978304 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5580510 M 1151 0 1 TNFRSF9 HG00159 nsv5422617 1 7975419 7978254 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683927 M 3202 0 1 TNFRSF9 nsv5426464 1 7977255 7977307 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906888 M 3202 0 1 TNFRSF9 nsv4518421 1 7978032 7978748 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854066 M 10847 0 1 TNFRSF9 nsv4051438 1 7981241 7983767 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965345 M 10847 1 0 TNFRSF9 nsv4051646 1 7981698 7981892 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854075 M 10847 0 1 TNFRSF9 nsv6538831 1 7988945 7989504 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253200 M 19652 0 0 TNFRSF9 nsv6327354 1 7991182 7998817 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064270 M 19652 0 1 TNFRSF9 esv3653529 1 7996515 7996515 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477380 M 20 1 0 TNFRSF9 esv2743452 1 8002070 8002379 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6941775 M 96 0 1 TNFRSF9 SSM023 nsv6323687 1 8008063 8011234 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064301 M 19652 0 1 "" nsv6057738 1 8012964 8012964 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537507 M 405 1 0 "" nsv4752221 1 8012994 8012994 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265914 M 25 1 0 "" nsv5609330 1 8013058 8013058 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066137 M 35 1 0 "" HG00512 nsv6041026 1 8013093 8013093 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519794 M 405 1 0 "" nsv3951022 1 8013144 8013144 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191575 M 1 1 0 "" HG002 nsv3533984 1 8013145 8013145 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413131 M 9 1 0 "" HG00514 nsv3532837 1 8013177 8013177 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385310 M 9 1 0 "" NA19240 nsv2802324 1 8013178 8013178 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685707 M 2 1 0 "" nsv3325233 1 8013178 8013178 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482317,nssv14482884,nssv14485046,nssv14488497,nssv14483563,nssv14491218 M 14 6 0 "" CHM13,HG00268,HG00514,HG02059,HG02106,NA19240 nsv4444537 1 8013207 8013207 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15767924 M 1 1 0 "" nsv5872290 1 8014095 8014155 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17371469 M 914 0 1 "" nsv4044335 1 8014100 8014156 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854096 M 10847 0 1 "" nsv5418092 1 8014100 8014156 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906889 M 3202 0 1 "" nsv1521 1 8014239 8047493 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2406 M 9 1 0 PARK7 NA18555 nsv6318948 1 8017548 8053179 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063986 M 19652 0 1 PARK7 nsv6555426 1 8018006 8018652 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253204 M 19652 0 0 "" nsv6321345 1 8018478 8037047 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204483 M 19652 1 0 PARK7 nsv4044413 1 8018494 8037060 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965354 M 10847 1 0 PARK7 esv3668974 1 8021881 8021881 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491281 M 20 1 0 PARK7 nsv4051129 1 8026309 8028645 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854107 M 10847 0 1 PARK7 nsv6551355 1 8028317 8029026 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253206 M 19652 0 0 PARK7 nsv6327786 1 8028774 8029837 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063996 M 19652 0 1 PARK7 nsv6318920 1 8031885 8048608 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18204485 M 19652 1 0 PARK7 nsv6046693 1 8036526 8036526 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528735 M 405 1 0 PARK7 nsv4462818 1 8036526 8036527 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024920 M 10847 1 0 PARK7 nsv4535378 1 8043834 8043835 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024930 M 10847 1 0 PARK7 nsv5682404 1 8043850 8043850 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17225190 M 3202 1 0 PARK7 nsv5401996 1 8043850 8043893 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906891 M 3202 1 0 PARK7 nsv1144348 1 8048222 8048287 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995097 M 2 0 1 "" KWS1 nsv1075124 1 8048251 8048318 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772577 M 1 0 1 "" KWP1 nsv1137724 1 8048524 8048591 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969375,nssv3995098 M 2 0 2 "" KWS1,KWS2 nsv6327854 1 8050384 8050735 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205086 M 19652 1 0 "" esv2403277 1 8050410 8050769 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4650492 M 1 0 1 "" NA18507 nsv4040707 1 8050419 8050701 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965356 M 10847 1 0 "" nsv4517759 1 8050463 8050594 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854116 M 10847 0 1 "" nsv6058039 1 8050519 8050519 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523147 M 405 1 0 "" nsv5620716 1 8050558 8050558 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066587 M 35 1 0 "" HG02587 nsv5623188 1 8050594 8050594 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066588 M 35 1 0 "" NA19983 nsv4536537 1 8050594 8050595 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024939 M 10847 1 0 "" nsv6326725 1 8051257 8052008 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064651 M 19652 0 1 "" nsv5422780 1 8054651 8067133 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906893 M 3202 1 0 "" nsv4737643 1 8055018 8055087 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16275722 M 25 0 1 "" nsv3325552 1 8055056 8055056 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488100 M 14 1 0 "" HG02106 nsv5420465 1 8055202 8055303 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906894 M 3202 1 0 "" nsv6320437 1 8056116 8057884 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064656 M 19652 0 1 "" nsv5725588 1 8057655 8057655 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17235288 M 3202 1 0 "" nsv4046350 1 8065971 8067801 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852868 M 10847 0 1 "" nsv5429255 1 8067663 8068527 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906897 M 3202 1 0 "" nsv4535227 1 8083105 8083106 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024949 M 10847 1 0 ERRFI1 esv6796 1 8086889 8087063 CNV gain Ahn_et_al_2009 19470904 Sequencing essv29237 M 1 0 0 "" nsv4752651 1 8086944 8086944 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16278461 M 25 1 0 "" nsv3210233 1 8086985 8087082 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14313799,nssv14313800,nssv14313798 M 9 3 0 "" NA19238,NA19239,NA19240 nsv5543094 1 8087004 8087035 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906903 M 3202 1 0 "" esv3668989 1 8087006 8087006 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491295 M 20 1 0 "" nsv3540390 1 8087006 8087006 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413132 M 9 1 0 "" HG00514 nsv6041997 1 8087010 8087010 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527966 M 405 1 0 "" nsv2802421 1 8087026 8087026 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679645 M 2 1 0 "" nsv3325914 1 8087026 8087026 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479841,nssv14490238,nssv14479497,nssv14488432,nssv14487469,nssv14476593,nssv14477460,nssv14475486,nssv14490285,nssv14486274 M 14 10 0 "" CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 esv3653733 1 8087064 8087064 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477563 M 20 1 0 "" nsv3534512 1 8087064 8087064 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378988 M 9 1 0 "" NA19240 nsv3937480 1 8087064 8087064 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192033 M 1 1 0 "" HG002 nsv4444538 1 8087064 8087064 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15767389 M 1 1 0 "" nsv5622038 1 8087064 8087064 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066592 M 35 1 0 "" HG00732 nsv5965515 1 8087064 8087064 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17386489 M 914 1 0 "" nsv5550103 1 8087082 8087115 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16906914 M 3202 1 0 "" nsv5879055 1 8087100 8087219 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17388931 M 914 0 1 "" esv3680901 1 8087194 8087262 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502015 M 20 0 1 "" nsv6318143 1 8090703 8383115 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205094 M 19652 1 0 "" nsv5415013 1 8092151 8096566 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907740 M 3202 1 0 "" nsv6331280 1 8092387 8101184 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064716 M 19652 0 1 "" nsv6552625 1 8093001 8094160 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253222 M 19652 0 0 "" nsv4038094 1 8093767 8099889 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852875 M 10847 0 1 "" esv3585135 1 8095411 8103255 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847537 M 2504 0 1 "" HG02323 nsv5959880 1 8096162 8096162 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17374204 M 914 1 0 "" nsv5425962 1 8096565 8101184 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907762 M 3202 0 1 "" nsv4049131 1 8096566 8101184 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852882 M 10847 0 1 "" nsv5830479 1 8096773 8099022 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480811 M 914 0 0 "" nsv5420620 1 8102284 8102444 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907773 M 3202 1 0 "" nsv5886581 1 8103254 8104177 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384611 M 914 0 1 "" nsv6323050 1 8103254 8104178 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064742 M 19652 0 1 "" nsv4037331 1 8105000 8112000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856127 M 10847 0 1 "" nsv1076074 1 8105038 8105102 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767844 M 1 0 1 "" KWP1 nsv6538709 1 8105087 8105521 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253227 M 19652 0 0 "" nsv6317708 1 8105247 8112291 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064749 M 19652 0 1 "" nsv5427827 1 8107075 8107170 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907784 M 3202 0 1 "" nsv5830160 1 8110214 8113842 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480812 M 914 0 0 "" esv3585136 1 8110264 8113874 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847539,essv9847538 M 2504 0 2 "" HG02332,NA19307 nsv5869252 1 8110292 8113859 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380133 M 914 0 1 "" nsv4042061 1 8110296 8113860 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856136 M 10847 0 1 "" nsv5419868 1 8110296 8113860 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907795 M 3202 0 1 "" nsv6539528 1 8110627 8111108 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253229 M 19652 0 0 "" nsv5830161 1 8111543 8113242 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481761,nssv17480813 M 914 0 0 "" nsv945757 1 8117076 8123756 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1750938,nssv1750975,nssv1750940,nssv1750996,nssv1750946,nssv1751006,nssv1750939,nssv1750983,nssv1750947,nssv1751002,nssv1751022,nssv1751013,nssv1750952,nssv1750989,nssv1751020,nssv1752568,nssv1750949,nssv1751026,nssv1751015,nssv1751012,nssv1750942,nssv1752571,nssv1750951,nssv1750995,nssv1750956,nssv1752572,nssv1750957,nssv1750981,nssv1751017,nssv1752570,nssv1750967,nssv1751011,nssv1750944,nssv1750999,nssv1750965,nssv1750985,nssv1750945,nssv1750978,nssv1750950,nssv1751005,nssv1751014,nssv1750982,nssv1750954,nssv1750991,nssv1750948,nssv1750984,nssv1750955,nssv1750993,nssv1750943,nssv1750987,nssv1750962,nssv1750979,nssv1750961,nssv1751024,nssv1750973,nssv1751009,nssv1751018,nssv1752569,nssv1750966,nssv1751004,nssv1750963,nssv1750997,nssv1750972,nssv1751001,nssv1750974,nssv1750986,nssv1750968,nssv1750990,nssv1751016,nssv1751000,nssv1750953,nssv1752573,nssv1750969,nssv1751007,nssv1750937,nssv1750988,nssv1750959,nssv1750992,nssv1750960,nssv1751025,nssv1750958,nssv1750994,nssv1751021,nssv1750977,nssv1750970,nssv1750998,nssv1751023,nssv1751010,nssv1750964,nssv1751027,nssv1751019,nssv1751003,nssv1750971,nssv1750976,nssv1750941,nssv1750980,nssv1751008 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6545612 1 8118248 8119019 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253230 M 19652 0 0 "" nsv6331668 1 8118796 8120368 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064113 M 19652 0 1 "" nsv1014727 1 8119262 8375913 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478359 M 11257 1 0 "" nsv6552865 1 8124977 8126057 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253231 M 19652 0 0 "" nsv6537887 1 8127935 8128485 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253232 M 19652 0 0 "" esv3685574 1 8129123 8129176 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16470094 M 20 0 0 "" nsv4048337 1 8129297 8132188 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965357 M 10847 1 0 "" nsv5868740 1 8129308 8131539 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374528 M 914 0 1 "" nsv5830659 1 8130292 8131391 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480816 M 914 0 0 "" nsv6540966 1 8133071 8134259 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253233 M 19652 0 0 "" nsv6325911 1 8134457 8138847 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064137 M 19652 0 1 "" nsv6545907 1 8134914 8135350 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253234 M 19652 0 0 "" nsv5959925 1 8136822 8136822 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17386660 M 914 1 0 "" nsv6545653 1 8141812 8142258 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253235 M 19652 0 0 "" nsv528132 1 8145294 8147157 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704677 M 2026 0 1 "" nsv5582186 1 8147302 8147653 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066342 M 35 0 1 "" HG00512 nsv3193587 1 8147302 8147654 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14313479 M 9 0 1 "" HG00512 nsv5984854 1 8147309 8147657 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527500 M 405 0 1 "" nsv5414857 1 8147311 8147757 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907798 M 3202 0 1 "" esv2661294 1 8147356 8147708 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5434164,essv5647987 M 1151 0 2 "" HG00512,HG00524 nsv3202089 1 8149404 8149459 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14315710,nssv14315707,nssv14315709,nssv14315708 M 9 0 4 "" HG00513,HG00731,HG00732,HG00733 nsv1077035 1 8149406 8149462 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764428 M 1 0 1 "" KWP1 dgv32n106 1 8149407 8149463 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1122291,nsv1144349 M 2 0 2 "" KWS1,KWS2 nsv5878472 1 8159399 8161705 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383961 M 914 0 1 "" nsv5984769 1 8161996 8164225 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521523 M 405 0 1 "" nsv4042112 1 8162001 8164224 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856145 M 10847 0 1 "" nsv4748183 1 8163567 8163629 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279653 M 25 0 1 "" nsv1133805 1 8163713 8163770 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990231,nssv3995100 M 2 0 2 "" KWS1,KWS2 nsv1145318 1 8163984 8164040 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982411 M 2 0 1 "" KWS1 esv3585137 1 8164787 8186286 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847540,essv9847541 M 2504 2 0 "" NA20882,NA20900 nsv5424032 1 8166022 8207022 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907799 M 3202 1 0 "" esv3585138 1 8166041 8207035 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847542,essv9847543 M 2504 2 0 "" NA20882,NA20900 nsv4462684 1 8168564 8168565 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024968 M 10847 1 0 "" nsv4462120 1 8170441 8170442 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024978 M 10847 1 0 "" nsv6554625 1 8171564 8172376 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253241 M 19652 0 0 "" esv2764230 1 8173369 8189285 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004935,essv7004925,essv7004932,essv7004924,essv7004939,essv7004936,essv7004934,essv7004940,essv7004930,essv7004938,essv7004921,essv7004926,essv7004923,essv7004928,essv7004929,essv7004927,essv7004931,essv7004937 M 1109 0 18 "" RW_0013,RW_0043,RW_0049,RW_0098,RW_0118,RW_0129,RW_0155,RW_0162,RW_0174,RW_0190,RW_0220,RW_0229,RW_0234,RW_0253,RW_0552,RW_0619,RW_0626,RW_0634 nsv4039397 1 8173524 8174350 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856154 M 10847 0 1 "" nsv5546538 1 8174324 8174324 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907801 M 3202 1 0 "" nsv5554085 1 8174324 8174360 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907800 M 3202 0 0 "" nsv1160951 1 8176626 8191792 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4027767 M 369 0 1 "" nsv3170052 1 8176626 8191792 CNV duplication Fu_et_al_2018 29476164 SNP array nssv14243798 M 93 1 0 "" NGO_1 nsv5953974 1 8177842 8177842 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17372752 M 914 1 0 "" nsv4537693 1 8179840 8179841 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024989 M 10847 1 0 "" nsv5536673 1 8179885 8179885 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907803 M 3202 1 0 "" nsv5607200 1 8179885 8179885 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066353 M 35 1 0 "" HG03065 nsv6319225 1 8180395 8181671 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064199 M 19652 0 1 "" dgv39n223 1 8180861 8192460 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6335102,nsv6335133,nsv6326426 M 19652 0 3 "" dgv40n223 1 8182267 8187121 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6550498,nsv6538699 M 19652 0 0 "" nsv6326277 1 8182361 8184160 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064206 M 19652 0 1 "" nsv5830168 1 8182386 8190489 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480822 M 914 0 0 "" esv3585139 1 8182402 8190870 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847578,essv9847547,essv9847582,essv9847577,essv9847546,essv9847583,essv9847576,essv9847545,essv9847586,essv9847568,essv9847587,essv9847575,essv9847580,essv9847569,essv9847581,essv9847571,essv9847585,essv9847574,essv9847584,essv9847570,essv9847579,essv9847572,essv9847544,essv9847573,essv9847564,essv9847550,essv9847549,essv9847553,essv9847565,essv9847558,essv9847563,essv9847559,essv9847554,essv9847557,essv9847561,essv9847556,essv9847567,essv9847551,essv9847555,essv9847548,essv9847560,essv9847552,essv9847562,essv9847566 M 2504 0 44 "" HG01058,HG01883,HG01889,HG02318,HG02502,HG02536,HG02583,HG02585,HG02642,HG02756,HG02798,HG02805,HG02854,HG02884,HG02923,HG02941,HG03063,HG03064,HG03124,HG03132,HG03160,HG03172,HG03212,HG03439,NA18876,NA18933,NA19035,NA19107,NA19108,NA19153,NA19204,NA19207,NA19213,NA19318,NA19321,NA19374,NA19403,NA19437,NA19471,NA19472,NA19664,NA19701,NA19704,NA20296 nsv5573401 1 8182406 8186815 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066355 M 35 0 1 "" HG03065 nsv5975778 1 8182406 8187119 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17381524 M 914 0 0 "" nsv5874549 1 8182406 8190874 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17377937 M 914 0 1 "" esv2672911 1 8182406 8190875 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5467236,essv5471431,essv5851511,essv6161910,essv5663474,essv5795918,essv5603109,essv6042179,essv6383717 M 1151 0 9 "" NA19107,NA19213,NA19373,NA19437,NA19471,NA19472,NA19664,NA19701,NA19704 nsv4044076 1 8182406 8190875 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856164 M 10847 0 1 "" nsv5560196 1 8182406 8190875 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907815 M 3202 0 0 "" dgv6n206 1 8182406 8191620 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nsv5416264,nsv5425534 M 3202 0 2 "" esv25059 1 8182444 8191375 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14504 M 40 0 2 "" NA07045,NA19108 esv2421513 1 8182462 8189854 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5037691,essv5143136,essv5022989,essv5146224,essv5088579,essv5053091,essv5031289,essv5114664,essv5120024,essv5060745,essv5159857,essv5014120,essv5120988,essv5107816,essv5142988,essv5015810,essv5080397,essv5019834,essv5132727,essv5022164,essv5071617,essv5009796,essv5012227,essv5005423,essv5003208,essv5016176,essv5113994,essv5021464,essv5038470,essv5141409,essv5154659,essv5073414,essv5115860,essv5147348,essv5142796,essv5053733,essv5078502,essv5075870,essv5028046 M 1184 0 39 "" NA06997,NA07045,NA18933,NA19035,NA19107,NA19108,NA19109,NA19127,NA19153,NA19154,NA19204,NA19207,NA19213,NA19215,NA19313,NA19318,NA19321,NA19352,NA19373,NA19374,NA19403,NA19437,NA19471,NA19472,NA19664,NA19701,NA19702,NA19704,NA19915,NA20288,NA20297,NA20343,NA20347,NA20363,NA21295,NA21317,NA21424,NA21580,NA21596 nsv442907 1 8182584 8189285 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1617680,nssv1617702,nssv1617669,nssv1617647,nssv1617658,nssv1617691 M 270 0 6 "" NA19127,NA19153,NA19154,NA19204,NA19205,NA19207 nsv6328804 1 8183237 8183662 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064209 M 19652 0 1 "" nsv6243177 1 8183623 8183623 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853116 M 1021 1 0 "" nsv6333538 1 8185227 8186162 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064211 M 19652 0 1 "" nsv4036972 1 8185260 8185367 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856177 M 10847 0 1 "" nsv5428376 1 8185260 8185383 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907835 M 3202 0 1 "" nsv5572832 1 8185271 8186231 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066356 M 35 0 1 "" NA18534 esv3585140 1 8185308 8186282 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847590,essv9847599,essv9847589,essv9847604,essv9847588,essv9847591,essv9847609,essv9847615,essv9847592,essv9847607,essv9847617,essv9847601,essv9847611,essv9847616,essv9847596,essv9847610,essv9847613,essv9847600,essv9847608,essv9847612,essv9847602,essv9847614,essv9847606,essv9847598,essv9847595,essv9847603,essv9847593,essv9847597,essv9847594,essv9847605 M 2504 0 30 "" HG01883,HG01889,HG02318,HG02502,HG02583,HG02585,HG02642,HG02756,HG02798,HG02854,HG02941,HG03063,HG03064,HG03124,HG03132,HG03160,HG03172,HG03212,HG03439,NA18876,NA19107,NA19204,NA19213,NA19318,NA19374,NA19403,NA19437,NA19471,NA19472,NA19704 esv2660395 1 8185330 8186291 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5581631 M 1151 0 1 "" NA18534 nsv5580115 1 8186886 8190874 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066986 M 35 0 1 "" HG03065 nsv6324286 1 8186961 8191760 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205103 M 19652 1 0 "" nsv6324778 1 8187161 8190960 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064214 M 19652 0 1 "" nsv6320415 1 8188461 8190860 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064215 M 19652 0 1 "" nsv5421080 1 8199489 8201008 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907846 M 3202 0 1 "" nsv6333779 1 8199489 8201008 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064432 M 19652 0 1 "" nsv545337 1 8200690 8210935 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709644 M 17421 1 0 "" esv3585141 1 8200707 8211256 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847641,essv9847658,essv9847651,essv9847638,essv9847657,essv9847652,essv9847639,essv9847656,essv9847653,essv9847640,essv9847654,essv9847650,essv9847655,essv9847637,essv9847643,essv9847632,essv9847649,essv9847634,essv9847645,essv9847631,essv9847647,essv9847633,essv9847646,essv9847635,essv9847644,essv9847636,essv9847648,essv9847620,essv9847642,essv9847621,essv9847622,essv9847627,essv9847618,essv9847619,essv9847623,essv9847629,essv9847630,essv9847624,essv9847625,essv9847628,essv9847626 M 2504 41 0 "" HG00096,HG00102,HG00139,HG00179,HG00185,HG00239,HG00267,HG00306,HG00323,HG00330,HG00334,HG00378,HG00380,HG01080,HG01102,HG01188,HG01325,HG01384,HG01403,HG01612,HG01669,HG01680,HG01988,HG02337,HG03826,HG03888,NA10847,NA11831,NA11840,NA11931,NA12004,NA12043,NA12760,NA12778,NA12830,NA18962,NA20502,NA20507,NA20510,NA20900,NA21101 nsv4048684 1 8200930 8211163 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854121 M 10847 0 1 "" esv2763847 1 8202357 8209321 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7030856,essv7031078,essv7030967,essv7031412,essv7031301,essv7031190 M 1109 6 0 "" SW_0568,SW_1045,SW_1057,SW_1111,SW_1127,SW_1166 dgv41n223 1 8202661 8211260 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6329999,nsv6316569 M 19652 2 0 "" nsv5830482 1 8202887 8210453 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481773 M 914 0 0 "" nsv831870 1 8203407 8354157 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442595,nssv1442606,nssv1442617,nssv1442630,nssv1442652,nssv1442641 M 95 0 6 "" nsv6322680 1 8203761 8206660 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205106 M 19652 1 0 "" nsv6137979 1 8203791 8211271 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907857 M 3202 1 0 "" nsv4049123 1 8203848 8211261 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965358 M 10847 1 0 "" nsv5883500 1 8203850 8211232 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17383854 M 914 1 0 "" esv22301 1 8204084 8211127 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv10444 M 40 3 0 "" NA11931,NA12004,NA12239 dgv95n54 1 8204719 8211074 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545339,nsv545340,nsv545338 M 17421 4 0 "" nsv441679 1 8206130 8209321 CNV gain McCarroll_et_al_2008 18776908 SNP array nssv1656574,nssv1656576,nssv1656572,nssv1656578,nssv1656580,nssv1656569,nssv1656573,nssv1656568,nssv1656575,nssv1656570,nssv1656577,nssv1656571,nssv1656579 M 270 13 0 "" NA07019,NA07022,NA10854,NA10857,NA11831,NA11840,NA12004,NA12043,NA12146,NA12155,NA12236,NA12239,NA12752 nsv6334707 1 8207361 8211260 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205109 M 19652 1 0 "" nsv6334921 1 8208113 8209171 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064436 M 19652 0 1 "" nsv6329831 1 8209461 8211260 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205111 M 19652 1 0 "" nsv4462690 1 8215624 8215625 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024996 M 10847 1 0 "" nsv5687352 1 8215634 8215634 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17229861 M 3202 1 0 "" nsv5413583 1 8215634 8215685 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907879 M 3202 1 0 "" nsv4033576 1 8216554 8240600 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965359 M 10847 1 0 "" nsv5425283 1 8216554 8240610 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907890 M 3202 1 0 "" esv23800 1 8216828 8240818 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv15760 M 40 1 0 "" NA12156 nsv545341 1 8217087 8225581 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709649 M 17421 1 0 "" nsv545342 1 8217087 8230180 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709650 M 17421 1 0 "" nsv4731026 1 8217879 8218016 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16293361 M 25 0 1 "" nsv5430352 1 8217925 8217977 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907892 M 3202 0 1 "" esv3541900 1 8217954 8218023 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9740647 M 767 0 1 "" nsv6243279 1 8219601 8219601 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853901 M 1021 1 0 "" nsv4038018 1 8220272 8221422 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965360 M 10847 1 0 "" nsv6324994 1 8220437 8221483 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064447 M 19652 0 1 "" nsv6328080 1 8221423 8231124 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064448 M 19652 0 1 "" nsv545343 1 8223832 8275284 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709651 M 17421 0 1 "" nsv6535696 1 8233322 8235147 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253257 M 19652 0 0 "" nsv5424660 1 8234387 8235406 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907893 M 3202 1 0 "" nsv1632 1 8238409 8283574 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7290 M 9 0 1 "" NA12156 nsv6535953 1 8240669 8241084 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253875 M 19652 0 0 "" nsv6544117 1 8243118 8244027 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253877 M 19652 0 0 "" nsv4533475 1 8243945 8243946 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024026 M 10847 1 0 "" nsv5884192 1 8245582 8245705 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17378111 M 914 0 1 "" nsv4041056 1 8245582 8245706 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854132 M 10847 0 1 "" nsv5433480 1 8245582 8245706 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907894 M 3202 0 1 "" nsv5985188 1 8245582 8245706 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533969 M 405 0 1 "" nsv4390853 1 8245583 8245706 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15703404 M 174 0 1 "" nsv5875999 1 8247331 8247527 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386901 M 914 0 1 "" nsv6553686 1 8247526 8247970 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253881 M 19652 0 0 "" nsv5568334 1 8247755 8250062 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067279 M 35 0 1 "" HG03065 nsv5871654 1 8247755 8250064 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372248 M 914 0 1 "" esv2673013 1 8247755 8250065 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6250393,essv6127302,essv5459203,essv6425063,essv6386418,essv5590716,essv6532958,essv6234149,essv5869405,essv6455515,essv6226674 M 1151 0 11 "" HG01107,NA18505,NA19107,NA19213,NA19373,NA19374,NA19437,NA19452,NA19471,NA19472,NA19704 nsv4048987 1 8247755 8250065 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854139 M 10847 0 1 "" nsv5432275 1 8247755 8250065 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907895 M 3202 0 1 "" nsv6334761 1 8247755 8250065 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063287 M 19652 0 1 "" esv3585142 1 8247757 8250067 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847676,essv9847664,essv9847677,essv9847661,essv9847669,essv9847663,essv9847667,essv9847665,essv9847682,essv9847662,essv9847668,essv9847659,essv9847681,essv9847660,essv9847680,essv9847687,essv9847671,essv9847686,essv9847672,essv9847688,essv9847666,essv9847694,essv9847683,essv9847691,essv9847684,essv9847689,essv9847679,essv9847692,essv9847678,essv9847693,essv9847670,essv9847690,essv9847673,essv9847685,essv9847674,essv9847695,essv9847675,essv9847701,essv9847699,essv9847700,essv9847698,essv9847697,essv9847696 M 2504 0 43 "" HG00742,HG01107,HG01883,HG01889,HG01988,HG02334,HG02429,HG02479,HG02481,HG02536,HG02573,HG02667,HG02895,HG02941,HG02971,HG03049,HG03054,HG03063,HG03095,HG03123,HG03132,HG03157,HG03168,HG03172,HG03352,HG03439,NA18505,NA18924,NA18933,NA18934,NA19035,NA19107,NA19152,NA19209,NA19213,NA19318,NA19374,NA19403,NA19437,NA19452,NA19471,NA19472,NA19704 nsv5830483 1 8247763 8250090 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481775 M 914 0 0 "" nsv6325799 1 8247861 8248960 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063288 M 19652 0 1 "" nsv4034344 1 8248980 8254967 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854146 M 10847 0 1 "" esv3542011 1 8252849 8252985 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9740758 M 767 0 1 "" nsv5887274 1 8252853 8252982 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17379043 M 914 0 1 "" nsv4049577 1 8252855 8252983 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854154 M 10847 0 1 "" nsv5431299 1 8252855 8252983 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907896 M 3202 0 1 "" nsv6329402 1 8253416 8257674 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063294 M 19652 0 1 "" nsv4332045 1 8255243 8257674 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788874 M 10847 0 0 "" nsv5429867 1 8259218 8265337 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907898 M 3202 0 1 "" nsv6318144 1 8264161 8290860 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063309 M 19652 0 1 "" nsv4049509 1 8264215 8290932 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854164 M 10847 0 1 "" nsv6333728 1 8264353 8275780 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063310 M 19652 0 1 "" esv3653951 1 8277000 8277000 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477760 M 20 1 0 "" nsv4035795 1 8277000 8282200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854546 M 10847 0 1 "" nsv4765657 1 8277043 8277043 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16292070 M 25 1 0 "" nsv3539916 1 8277046 8277046 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390879,nssv14412680 M 9 2 0 "" HG00514,NA19240 nsv3561854 1 8277046 8277046 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14314574,nssv14314576,nssv14314573,nssv14314572,nssv14314575,nssv14314577 M 9 6 0 "" HG00512,HG00514,HG00731,NA19238,NA19239,NA19240 nsv5620543 1 8277046 8277046 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067282 M 35 1 0 "" HG00731 nsv5691217 1 8277046 8277046 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203598,nssv17229049 M 3202 2 0 "" nsv5963713 1 8277046 8277046 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17373570 M 914 1 0 "" nsv6055908 1 8277046 8277046 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525788 M 405 1 0 "" nsv6243391 1 8277046 8277046 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853902 M 1021 1 0 "" nsv4535484 1 8277046 8277047 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026164 M 10847 1 0 "" dgv96n152 1 8277046 8277260 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3180990,nsv3176269 M 9 0 0 "" HG00514,NA19240 nsv3064158 1 8277047 8277047 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034286 M 2 1 0 "" NA12878 nsv3325923 1 8277047 8277047 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482183,nssv14486426,nssv14485962,nssv14475604,nssv14491977 M 14 5 0 "" HG00514,HG02818,HG04217,NA19240,NA19434 nsv5538394 1 8280225 8280271 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907906 M 3202 1 0 "" nsv5534291 1 8280288 8280322 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907908 M 3202 1 0 "" esv2676421 1 8283371 8284817 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6464576,essv6544502,essv6375769,essv6274360,essv5495917,essv5850095,essv6534122,essv6489753,essv5884882,essv6358608,essv6150189,essv5510957,essv6210977,essv6575204,essv5412219,essv5704499,essv5754571,essv5429899,essv6218567,essv6498094,essv5900225,essv5687952,essv5636477,essv6240205,essv5753462,essv6198697,essv6512348,essv5545977,essv5865835,essv6426066,essv6264533,essv5779092,essv5780250,essv6406057,essv5904040 M 1151 0 35 "" HG00119,HG00246,HG00275,HG00277,HG00328,HG00513,HG00537,HG00580,HG00613,HG00619,HG00657,HG01060,HG01061,HG01070,HG01171,HG01334,HG01375,NA06989,NA12058,NA18612,NA18910,NA18988,NA19004,NA19058,NA19062,NA19067,NA19070,NA19072,NA19347,NA19684,NA19685,NA19703,NA19719,NA19783,NA20581 esv3585143 1 8283918 8289540 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847702 M 2504 0 1 "" HG02053 nsv5424396 1 8283945 8289615 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907911 M 3202 0 1 "" nsv5415003 1 8286692 8286752 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907912 M 3202 0 1 "" nsv4757400 1 8288962 8288962 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284893 M 25 1 0 "" nsv6054523 1 8288977 8288977 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524671 M 405 1 0 "" nsv4517988 1 8288991 8289100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854583 M 10847 0 1 "" nsv5620102 1 8289007 8289007 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066465 M 35 1 0 "" HG00731 nsv6243502 1 8289027 8289027 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853915 M 1021 1 0 "" nsv4051592 1 8289100 8289236 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965361 M 10847 1 0 "" nsv6041355 1 8289104 8289104 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532270 M 405 1 0 "" nsv6320052 1 8289394 8290105 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063331 M 19652 0 1 "" nsv5430085 1 8291521 8295640 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907921 M 3202 0 1 "" esv3654031 1 8294377 8294377 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477831 M 20 1 0 "" nsv5674762 1 8296374 8296374 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17217940 M 3202 1 0 "" esv3654103 1 8296444 8296444 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477897 M 20 1 0 "" dgv42n223 1 8300190 8303703 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6553597,nsv6549056 M 19652 0 0 "" nsv6539438 1 8300995 8302266 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253892 M 19652 0 0 "" nsv4035993 1 8302476 8303329 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854600 M 10847 0 1 "" nsv5984773 1 8303258 8303377 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519615 M 405 0 1 "" nsv5875696 1 8303473 8303532 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372153 M 914 0 1 "" esv3654172 1 8305360 8305360 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16477959 M 20 1 0 "" esv3654258 1 8305966 8305966 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478036 M 20 1 0 "" nsv5424242 1 8306407 8307803 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907923 M 3202 0 1 "" nsv6331828 1 8306430 8307796 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063352 M 19652 0 1 "" nsv1012977 1 8312582 8545270 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3696766 M 11257 0 1 RERE,SLC45A1 nsv6323810 1 8312974 8313456 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063364 M 19652 0 1 "" nsv4040995 1 8312976 8313456 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854608 M 10847 0 1 "" nsv4046032 1 8315214 8315286 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854618 M 10847 0 1 "" nsv5875156 1 8315232 8315285 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385229 M 914 0 1 "" nsv5418103 1 8315233 8315286 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907924 M 3202 0 1 "" nsv5962590 1 8315436 8315436 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17384540 M 914 1 0 "" nsv4535159 1 8315438 8315439 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026175 M 10847 1 0 "" nsv5620709 1 8315445 8315445 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066470 M 35 1 0 "" NA19239 nsv3541182 1 8315474 8315474 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385673 M 9 1 0 "" NA19240 nsv5538742 1 8315484 8315486 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907926 M 3202 1 0 "" nsv6328431 1 8318664 8322133 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18063372 M 19652 0 1 "" nsv5881021 1 8320978 8321039 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372870 M 914 0 1 "" nsv4517591 1 8321048 8322009 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854627 M 10847 0 1 "" nsv1133806 1 8322208 8322265 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969376 M 2 0 1 "" KWS2 nsv5871064 1 8325046 8328576 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375209 M 914 0 1 "" nsv5830669 1 8325052 8328077 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481794 M 914 0 0 "" nsv1126974 1 8326142 8326213 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985262 M 2 0 1 "" KWS1 nsv5429819 1 8326498 8328630 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907927 M 3202 0 1 "" nsv4038418 1 8327248 8327308 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854636 M 10847 0 1 "" nsv5432558 1 8327248 8327308 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907928 M 3202 0 1 "" nsv6333481 1 8331473 8335717 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064834 M 19652 0 1 "" nsv6548402 1 8335004 8335560 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253895 M 19652 0 0 "" nsv3204499 1 8336848 8336935 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14316205,nssv14316204 M 9 0 2 "" HG00512,HG00514 nsv4444539 1 8336892 8336892 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759649 M 1 1 0 "" nsv4757595 1 8336898 8336898 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16276232 M 25 1 0 "" nsv3535892 1 8336925 8336925 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412682 M 9 1 0 "" HG00514 nsv3542275 1 8336936 8336936 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440070,nssv14388040 M 9 2 0 "" HG00733,NA19240 esv1547514 1 8336937 8336937 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3685454 M 2 1 0 "" HuRef nsv2802329 1 8336937 8336937 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13701883 M 2 1 0 "" nsv3929888 1 8336962 8336962 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192034 M 1 1 0 "" HG002 nsv5548511 1 8336962 8336962 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907929 M 3202 1 0 "" nsv5618891 1 8336962 8336962 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066481 M 35 1 0 "" HG00731 esv3673040 1 8336962 8336963 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494940 M 20 0 0 "" nsv3054091 1 8336965 8336965 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033100 M 2 1 0 "" NA12878 nsv3060827 1 8336972 8336972 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029513 M 2 1 0 "" CHM1 nsv5963421 1 8336972 8336972 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17375952 M 914 1 0 "" nsv3534311 1 8336979 8336979 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383095,nssv14440071 M 9 2 0 "" HG00733,NA19240 nsv6044481 1 8336992 8336992 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530384 M 405 1 0 "" esv2658784 1 8338181 8338947 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5974633 M 1151 0 1 "" NA19371 esv3585144 1 8338196 8338929 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847703 M 2504 0 1 "" NA19454 nsv6320282 1 8338210 8338901 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064842 M 19652 0 1 "" nsv5425966 1 8338211 8338901 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907930 M 3202 0 1 "" nsv6555443 1 8339024 8340536 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253896 M 19652 0 0 "" nsv6316797 1 8339405 8340041 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064844 M 19652 0 1 "" nsv6328832 1 8347267 8352895 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064851 M 19652 0 1 "" nsv6548913 1 8348688 8349103 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253899 M 19652 0 0 "" nsv6057215 1 8352566 8352566 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523392 M 405 1 0 "" nsv6333428 1 8352832 8359240 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064860 M 19652 0 1 "" nsv4043121 1 8352852 8359240 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852890 M 10847 0 1 "" nsv6538201 1 8358658 8359172 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253900 M 19652 0 0 "" nsv5830673 1 8360069 8364006 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480839,nssv17481803 M 914 0 0 "" nsv6323960 1 8360161 8361660 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064867 M 19652 0 1 "" esv3585145 1 8360182 8364098 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9847750,essv9847777,essv9847729,essv9847772,essv9847749,essv9847764,essv9847733,essv9847771,essv9847748,essv9847770,essv9847752,essv9847775,essv9847730,essv9847766,essv9847738,essv9847768,essv9847756,essv9847776,essv9847734,essv9847767,essv9847735,essv9847773,essv9847747,essv9847769,essv9847745,essv9847774,essv9847731,essv9847765,essv9847754,essv9847760,essv9847723,essv9847744,essv9847710,essv9847739,essv9847719,essv9847746,essv9847704,essv9847727,essv9847714,essv9847728,essv9847722,essv9847743,essv9847711,essv9847755,essv9847718,essv9847758,essv9847705,essv9847753,essv9847725,essv9847742,essv9847708,essv9847757,essv9847706,essv9847759,essv9847717,essv9847741,essv9847724,essv9847740,essv9847707,essv9847736,essv9847713,essv9847737,essv9847726,essv9847732,essv9847709,essv9847751,essv9847721,essv9847762,essv9847715,essv9847761,essv9847716,essv9847763,essv9847712,essv9847720 M 2504 0 74 "" HG00625,HG01048,HG01098,HG01101,HG01121,HG01148,HG01149,HG01177,HG01257,HG01272,HG01323,HG01351,HG01360,HG01362,HG01390,HG01395,HG01413,HG01447,HG01492,HG01494,HG01556,HG01572,HG01577,HG01892,HG01918,HG01924,HG01936,HG01938,HG01939,HG01941,HG01948,HG01950,HG01951,HG01953,HG01954,HG01973,HG01977,HG01979,HG01982,HG01992,HG01997,HG02002,HG02090,HG02102,HG02104,HG02146,HG02150,HG02252,HG02266,HG02275,HG02277,HG02278,HG02291,HG02298,HG02304,HG02345,HG03234,NA18948,NA18954,NA18978,NA19657,NA19664,NA19681,NA19682,NA19717,NA19722,NA19726,NA19732,NA19740,NA19752,NA19762,NA19770,NA20274,NA20314 nsv5830501 1 8360206 8365707 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481804,nssv17481805 M 914 0 0 "" nsv5884070 1 8360239 8364038 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385482 M 914 0 1 "" esv2663055 1 8360239 8364039 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5770868,essv6593461,essv5940148,essv5463476,essv5914197,essv5646640,essv5544793,essv5642347,essv5975382,essv6503910,essv5890810,essv6093244,essv6407017,essv5868670,essv6284524,essv6571256,essv5936414 M 1151 0 17 "" HG01048,HG01101,HG01148,HG01149,HG01351,HG01390,HG01492,HG01494,NA18948,NA19657,NA19664,NA19681,NA19682,NA19717,NA19722,NA19726,NA19732 nsv4040075 1 8360239 8364039 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852909 M 10847 0 1 "" nsv5433251 1 8360239 8364039 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907931 M 3202 0 1 "" nsv6334609 1 8360239 8364039 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064307 M 19652 0 1 "" nsv5985189 1 8360241 8364039 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533569 M 405 0 1 "" nsv6335249 1 8360261 8360760 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064308 M 19652 0 1 "" nsv947411 1 8360755 8373234 CNV deletion Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2762787 M 97 0 1 "" HGDP00998 nsv4043815 1 8361226 8361296 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852917 M 10847 0 1 "" esv2743463 1 8361234 8361818 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6874694,essv6668934,essv6863946,essv6756542,essv6895841,essv6846999,essv6759032,essv6733473,essv6679156,essv6876654 M 96 0 10 "" SSM012,SSM031,SSM033,SSM049,SSM059,SSM061,SSM086,SSM089,SSM092,SSM099 nsv5580043 1 8361267 8361350 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066482 M 35 0 1 "" HG03486 nsv5870415 1 8361279 8403642 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17373174 M 914 1 0 SLC45A1 nsv4517196 1 8361279 8403645 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965362 M 10847 1 0 SLC45A1 esv2743475 1 8361352 8361590 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6895841,essv6668934 M 96 0 2 "" SSM031,SSM099 nsv4744532 1 8361469 8361582 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16271278 M 25 0 1 "" nsv5984957 1 8361480 8361594 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530094 M 405 0 1 "" esv2743486 1 8361491 8361570 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863946 M 96 0 1 "" SSM089 nsv3325267 1 8361505 8361617 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479181 M 14 0 1 "" HG02818 nsv5876792 1 8361870 8362007 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376975 M 914 0 1 "" nsv4042437 1 8361900 8362007 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965363 M 10847 1 0 "" nsv5881148 1 8361914 8361997 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17376856 M 914 1 0 "" nsv6325150 1 8362161 8364060 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064310 M 19652 0 1 "" nsv6546439 1 8366497 8367002 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253902 M 19652 0 0 "" nsv4048458 1 8368420 8370934 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852928 M 10847 0 1 "" nsv5830502 1 8370120 8400085 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480840 M 914 0 0 SLC45A1 nsv5548800 1 8370208 8370238 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907932 M 3202 1 0 "" nsv1150714 1 8373337 8373401 CNV insertion John_et_al_2014 26484159 Sequencing nssv3996190 M 1 1 0 "" KWB1 nsv3226668 1 8376982 8403662 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267044,nssv14267045 M 9 2 0 SLC45A1 HG00512,NA19239 nsv1743 1 8377753 8411716 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3033 M 9 1 0 SLC45A1 NA18555 nsv512716 1 8381685 8382557 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625340 M 1 1 0 "" 1 esv2601359 1 8381817 8382614 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5225689 M 1 1 0 "" NA18507 esv3681139 1 8381857 8382019 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502230 M 20 0 1 "" nsv4036745 1 8381943 8382491 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965364 M 10847 1 0 "" nsv4444540 1 8382288 8382288 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761804 M 1 1 0 "" nsv2802428 1 8382352 8382352 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690661 M 2 1 0 "" nsv2802429 1 8382353 8382353 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692168 M 2 1 0 "" nsv3325269 1 8382353 8382353 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478654,nssv14485152,nssv14472318,nssv14487359,nssv14485831,nssv14475522,nssv14475707,nssv14485644,nssv14478505,nssv14472183,nssv14478256,nssv14478733,nssv14481662,nssv14484291 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3531905 1 8382356 8382356 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440072 M 9 1 0 "" HG00733 nsv3533481 1 8382364 8382364 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388254 M 9 1 0 "" NA19240 nsv6043311 1 8382364 8382364 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530212 M 405 1 0 "" nsv3938851 1 8382367 8382367 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192035 M 1 1 0 "" HG002 nsv3532554 1 8382368 8382368 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412683 M 9 1 0 "" HG00514 nsv5620663 1 8382368 8382368 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066496 M 35 1 0 "" HG00731 nsv3531573 1 8382377 8382377 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440073 M 9 1 0 "" HG00733 nsv2802330 1 8382393 8382393 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694232 M 2 1 0 "" nsv3325270 1 8382393 8382393 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473451,nssv14479719,nssv14484196,nssv14475155 M 14 4 0 "" CHM1,HG00268,HG00514,HG04217 nsv3539605 1 8382404 8382404 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412684 M 9 1 0 "" HG00514 nsv3064159 1 8382427 8382427 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034502 M 2 1 0 "" NA12878 nsv3537965 1 8382455 8382455 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389560 M 9 1 0 "" NA19240 nsv516827 1 8390888 8423510 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv654276,nssv657128,nssv679037,nssv693424,nssv685632,nssv671511,nssv684816,nssv693483,nssv656941 M 2026 0 9 RERE,SLC45A1 nsv5615298 1 8391289 8391289 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067002 M 35 1 0 SLC45A1 HG02818 nsv3054093 1 8391314 8391314 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14027430 M 2 1 0 SLC45A1 NA12878 nsv3325571 1 8391317 8391317 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485232 M 14 1 0 SLC45A1 HX1 nsv4760641 1 8391320 8391320 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295824 M 25 1 0 SLC45A1 nsv5615185 1 8391331 8391331 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067003 M 35 1 0 SLC45A1 HG00731 nsv3531055 1 8391354 8391354 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380909 M 9 1 0 SLC45A1 NA19240 nsv3540474 1 8391368 8391368 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412686 M 9 1 0 SLC45A1 HG00514 nsv6060256 1 8391416 8391416 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526452 M 405 1 0 SLC45A1 nsv3056437 1 8391430 8391430 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020979 M 2 1 0 SLC45A1 NA12878 esv3681177 1 8391437 8391506 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502264 M 20 0 1 SLC45A1 nsv6057915 1 8391465 8391465 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525651 M 405 1 0 SLC45A1 nsv3533324 1 8391489 8391489 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440075 M 9 1 0 SLC45A1 HG00733 nsv2802601 1 8391490 8391490 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685627,nssv13684507 M 2 2 0 SLC45A1 nsv3534461 1 8391499 8391499 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384810 M 9 1 0 SLC45A1 NA19240 nsv3541308 1 8391505 8391505 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375928,nssv14412687,nssv14412688,nssv14440076 M 9 3 0 SLC45A1 HG00514,HG00733,NA19240 nsv3938891 1 8391505 8391505 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192036 M 1 1 0 SLC45A1 HG002 nsv5612391 1 8391505 8391505 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067006,nssv17067004,nssv17067005 M 35 3 0 SLC45A1 HG00731,HG00732,HG03371 esv1250756 1 8391507 8391507 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4006791 M 2 1 0 SLC45A1 HuRef nsv6316238 1 8392048 8392719 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064335 M 19652 0 1 SLC45A1 nsv6330748 1 8398521 8399334 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064339 M 19652 0 1 SLC45A1 nsv6544060 1 8400444 8401407 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253904 M 19652 0 0 SLC45A1 nsv5608987 1 8400474 8400474 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067012 M 35 1 0 SLC45A1 HG03732 nsv6326876 1 8401239 8402938 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064342 M 19652 0 1 SLC45A1 nsv5566675 1 8401247 8401581 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067013 M 35 0 1 SLC45A1 HG03683 nsv5611000 1 8402198 8402198 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067014 M 35 1 0 SLC45A1 HG03732 esv2624373 1 8404405 8405339 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5304328 M 1 1 0 "" NA18507 nsv4750467 1 8404845 8404845 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16270668 M 25 1 0 "" dgv33n106 1 8404851 8404951 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1129457,nsv1125454 M 2 2 0 "" KWS1,KWS2 nsv1137725 1 8404882 8404952 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990232 M 2 0 1 "" KWS2 nsv3558705 1 8404884 8404953 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14315653,nssv14315652 M 9 0 0 "" HG00512,HG00514 nsv4444541 1 8404900 8404900 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765807 M 1 1 0 "" nsv3535916 1 8404945 8404945 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380623 M 9 1 0 "" NA19240 esv3669132 1 8404952 8404952 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491422 M 20 1 0 "" nsv3930292 1 8404952 8404952 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192037 M 1 1 0 "" HG002 nsv5611535 1 8404952 8404952 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067015 M 35 1 0 "" HG00731 nsv6046493 1 8404952 8404952 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532894 M 405 1 0 "" nsv5534363 1 8404952 8405003 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907936 M 3202 1 0 "" nsv2801701 1 8404953 8404953 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694558,nssv13676906 M 2 2 0 "" nsv3325276 1 8404953 8404953 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484046,nssv14474689,nssv14476773,nssv14472585,nssv14478528,nssv14481485,nssv14476860,nssv14487587,nssv14484564,nssv14477194,nssv14476594,nssv14473909,nssv14475900,nssv14478171 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1162151 1 8404955 8404955 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4276612 M 2 1 0 "" HuRef nsv3534259 1 8404975 8404975 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440077,nssv14412689 M 9 2 0 "" HG00514,HG00733 esv3681266 1 8405090 8405187 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502343 M 20 0 1 "" nsv4517410 1 8412567 8412654 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852949 M 10847 0 1 RERE nsv545344 1 8415521 8434000 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709652 M 17421 0 1 RERE nsv819494 1 8416148 8421431 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419699 M 2 1 0 RERE AK1 nsv5874652 1 8422134 8422231 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17389020 M 914 1 0 RERE nsv4048634 1 8428841 8429582 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852957 M 10847 0 1 RERE nsv5686699 1 8429597 8429597 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203599 M 3202 1 0 RERE nsv6326194 1 8433206 8433851 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064365 M 19652 0 1 RERE nsv4765381 1 8435560 8435560 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16275713 M 25 1 0 RERE esv3681336 1 8435573 8435826 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502406 M 20 0 1 RERE esv990980 1 8435579 8435579 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3583268 M 3 1 0 RERE HuRef nsv5607131 1 8435580 8435580 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067020 M 35 1 0 RERE HG00731 nsv3542772 1 8435632 8435632 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412690 M 9 1 0 RERE HG00514 nsv6040799 1 8435640 8435640 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521032 M 405 1 0 RERE nsv5984776 1 8435683 8435763 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529252 M 405 0 1 RERE nsv3325574 1 8435717 8435717 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477078,nssv14478807,nssv14488403 M 14 3 0 RERE HG02059,HG02106,HX1 nsv5624237 1 8435797 8435797 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067021 M 35 1 0 RERE HG03371 nsv5422551 1 8446027 8446110 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907946 M 3202 0 1 RERE nsv4044451 1 8446067 8449359 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965366 M 10847 1 0 RERE nsv6139097 1 8446067 8449359 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16907947 M 3202 1 0 RERE nsv6328672 1 8446067 8449359 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205154 M 19652 1 0 RERE nsv5830771 1 8446130 8449248 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480849 M 914 0 0 RERE nsv6324934 1 8446261 8448660 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064375 M 19652 0 1 RERE esv3404682 1 8446618 8446637 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593546,essv9593558,essv9593502,essv9593569,essv9593580,essv9593513,essv9593524,essv9593591,essv9593535 M 185 9 0 RERE NA11931,NA12249,NA12287,NA12812,NA12814,NA12874,NA18970,NA19141,NA19143 nsv3523297 1 8446627 8446627 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412691,nssv14382333 M 9 2 0 RERE HG00514,NA19240 nsv3936470 1 8446627 8446627 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192038 M 1 1 0 RERE HG002 nsv4444542 1 8446627 8446627 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15764398 M 1 1 0 RERE nsv5403639 1 8446627 8446627 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908101 M 3202 1 0 RERE nsv5612286 1 8446627 8446627 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067024 M 35 1 0 RERE HG00731 nsv5955162 1 8446627 8446627 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17376589 M 914 1 0 RERE nsv6047986 1 8446627 8446627 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527783 M 405 1 0 RERE esv3673081 1 8446627 8446628 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16494977 M 20 0 0 RERE nsv4462133 1 8446627 8446628 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026194 M 10847 1 0 RERE nsv1140406 1 8446627 8448679 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960952,nssv3979112 M 2 2 0 RERE KWS1,KWS2 nsv3325937 1 8446628 8446628 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14481671,nssv14489601,nssv14474020,nssv14476712,nssv14489574 M 14 5 0 RERE HG00514,HG02059,HG02106,HX1,NA19434 nsv4758211 1 8446630 8446630 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16263112 M 25 1 0 RERE nsv3561997 1 8446635 8446635 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14315073,nssv14315077,nssv14315076,nssv14315075,nssv14315074,nssv14315078,nssv14315071,nssv14315072 M 9 8 0 RERE HG00512,HG00513,HG00514,HG00731,HG00732,NA19238,NA19239,NA19240 nsv5686074 1 8446635 8446635 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203601,nssv17219324 M 3202 2 0 RERE nsv6253106 1 8446635 8446635 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853973 M 1021 1 0 RERE esv3585147 1 8447277 8475460 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849159 M 2504 0 1 RERE NA19676 esv2674889 1 8447365 8475544 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5500893 M 1151 0 1 RERE NA19676 nsv4033238 1 8447369 8475544 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852977 M 10847 0 1 RERE nsv5432845 1 8447369 8475544 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16908123 M 3202 0 1 RERE nsv6334480 1 8447369 8475544 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064376 M 19652 0 1 RERE nsv4462845 1 8450779 8450780 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026764 M 10847 1 0 RERE nsv6328372 1 8451176 8454531 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064384 M 19652 0 1 RERE nsv6330864 1 8452768 8453283 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064387 M 19652 0 1 RERE nsv524946 1 8455712 8472164 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700963 M 2026 0 1 RERE nsv6253217 1 8460166 8460166 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853974 M 1021 1 0 RERE nsv4034870 1 8460288 8460360 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852987 M 10847 0 1 RERE nsv5959139 1 8461092 8461092 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17372613 M 914 1 0 RERE nsv4462703 1 8462399 8462400 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026774 M 10847 1 0 RERE nsv6330127 1 8462511 8471593 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064394 M 19652 0 1 RERE nsv5431315 1 8462694 8462763 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889288 M 3202 1 0 RERE nsv6333311 1 8462982 8463553 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064395 M 19652 0 1 RERE nsv6540443 1 8463886 8464319 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253910 M 19652 0 0 RERE nsv4047858 1 8465349 8470435 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965367 M 10847 1 0 RERE nsv5608512 1 8471394 8471394 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067031 M 35 1 0 RERE HG01596 nsv5687972 1 8471406 8471406 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17214706 M 3202 1 0 RERE nsv4051768 1 8476113 8476368 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15852996 M 10847 0 1 RERE nsv4462848 1 8477486 8477487 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025010 M 10847 1 0 RERE nsv5682205 1 8477501 8477501 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17228803,nssv17203602 M 3202 2 0 RERE nsv6253327 1 8477501 8477501 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17853975 M 1021 1 0 RERE nsv5394659 1 8477501 8477514 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889286 M 3202 1 0 RERE nsv5419682 1 8478404 8478472 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889285 M 3202 0 1 RERE nsv947412 1 8479574 8482106 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2762537 M 97 1 0 RERE HGDP00998 nsv1012632 1 8480150 8883506 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473413 M 11257 1 0 RERE nsv6327024 1 8486442 8489628 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065042 M 19652 0 1 RERE nsv4516789 1 8490513 8498561 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853006 M 10847 0 1 RERE nsv4048482 1 8493421 8497535 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853016 M 10847 0 1 RERE nsv1113071 1 8493918 8501990 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982412,nssv3990233 M 2 0 2 RERE KWS1,KWS2 nsv4037106 1 8493925 8501990 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853025 M 10847 0 1 RERE esv3687179 1 8500668 8500768 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16471538 M 20 0 0 RERE esv3360802 1 8501982 8502001 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593602,essv9593624,essv9593635,essv9593613 M 185 4 0 RERE NA11931,NA12045,NA12287,NA12814 nsv3521929 1 8501990 8501990 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412692 M 9 1 0 RERE HG00514 nsv3948476 1 8501990 8501990 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192039 M 1 1 0 RERE HG002 nsv4444543 1 8501990 8501990 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15768254 M 1 1 0 RERE nsv5544510 1 8501990 8501990 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889284 M 3202 1 0 RERE nsv5615676 1 8501990 8501990 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067037 M 35 1 0 RERE HG00732 nsv5958926 1 8501990 8501990 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17387523 M 914 1 0 RERE nsv6050409 1 8501990 8501990 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522735 M 405 1 0 RERE nsv4535946 1 8501990 8501991 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025020 M 10847 1 0 RERE nsv3325942 1 8501991 8501991 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14491923 M 14 1 0 RERE HG00514 esv3305985 1 8501991 8501992 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7769792,essv7764325,essv7769164,essv7766623,essv7768946,essv7767274 M 185 6 0 RERE NA11894,NA11931,NA12045,NA12287,NA12814,NA12874 nsv4763059 1 8501996 8501996 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16262439 M 25 1 0 RERE nsv3562021 1 8502007 8502007 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14317338,nssv14317337,nssv14317336 M 9 3 0 RERE HG00512,HG00514,HG00732 nsv5680663 1 8502007 8502007 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203603,nssv17224783 M 3202 2 0 RERE nsv6253438 1 8502007 8502007 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17854048 M 1021 1 0 RERE nsv5614628 1 8506349 8506349 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067041 M 35 1 0 RERE HG03125 nsv5877616 1 8509031 8511327 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17371998 M 914 0 1 RERE nsv5830491 1 8509033 8511332 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480855 M 914 0 0 RERE nsv479019 1 8509983 8509983 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019838 M 9 0 0 RERE nsv5684940 1 8513396 8513396 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17218252 M 3202 1 0 RERE nsv5408035 1 8513396 8513447 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889282 M 3202 1 0 RERE nsv5674395 1 8519620 8519620 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203604,nssv17231212 M 3202 2 0 RERE nsv5406477 1 8519620 8519671 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889250 M 3202 1 0 RERE nsv1122292 1 8527820 8527880 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969743 M 2 0 1 RERE KWS2 nsv5689071 1 8528300 8528300 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17218568 M 3202 1 0 RERE esv3441259 1 8528307 8528326 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593646 M 185 1 0 RERE NA11931 nsv5675821 1 8528317 8528317 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203605 M 3202 1 0 RERE nsv5406086 1 8528317 8528368 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889272 M 3202 1 0 RERE nsv5604666 1 8532219 8532219 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067046 M 35 1 0 RERE HG01114 esv3569008 1 8534109 8540476 CNV gain Uddin_et_al_2014 25503493 SNP array essv9791422,essv9791089,essv9791866 M 873 3 0 RERE 400888MS,401391PJ,401792KR esv3577717 1 8534109 8540476 CNV loss Uddin_et_al_2014 25503493 SNP array essv9790200,essv9790755,essv9792088,essv9789755,essv9790089,essv9791977,essv9790422,essv9791311,essv9790311,essv9790644,essv9790866,essv9791200,essv9790533,essv9790977,essv9791644,essv9791755,essv9791533,essv9789978,essv9789866 M 873 0 19 RERE 400177SJ,400207HN,400234CA,400316SL,400319HT,400501SJ,400512LR,400629BM,400634MP,400686BM,400717BD,400793BR,401215MJ,401347DH,401437MJ,401465TB,401498HH,401813DN,401913GT nsv6329086 1 8535232 8535536 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064770 M 19652 0 1 RERE nsv6324075 1 8541572 8575992 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064774 M 19652 0 1 RERE nsv6545345 1 8544576 8545272 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253925 M 19652 0 0 RERE nsv4050168 1 8545686 8548834 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853042 M 10847 0 1 RERE nsv6325840 1 8545686 8548834 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064777 M 19652 0 1 RERE nsv5425601 1 8546289 8546358 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889293 M 3202 0 1 RERE nsv5428644 1 8549969 8551299 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889304 M 3202 0 1 RERE esv3585149 1 8550232 8551315 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849617,essv9849656,essv9849583,essv9849643,essv9849609,essv9849659,essv9849580,essv9849658,essv9849563,essv9849646,essv9849562,essv9849674,essv9849624,essv9849648,essv9849623,essv9849657,essv9849561,essv9849663,essv9849571,essv9849662,essv9849627,essv9849672,essv9849569,essv9849645,essv9849585,essv9849675,essv9849630,essv9849678,essv9849604,essv9849660,essv9849576,essv9849655,essv9849608,essv9849641,essv9849610,essv9849676,essv9849626,essv9849661,essv9849567,essv9849667,essv9849586,essv9849669,essv9849631,essv9849652,essv9849618,essv9849640,essv9849579,essv9849654,essv9849595,essv9849644,essv9849593,essv9849668,essv9849632,essv9849666,essv9849606,essv9849670,essv9849573,essv9849647,essv9849577,essv9849680,essv9849601,essv9849642,essv9849599,essv9849673,essv9849629,essv9849681,essv9849565,essv9849639,essv9849597,essv9849651,essv9849605,essv9849650,essv9849582,essv9849664,essv9849628,essv9849649,essv9849560,essv9849679,essv9849613,essv9849653,essv9849559,essv9849665,essv9849616,essv9849671,essv9849620,essv9849677,essv9849600,essv9849701,essv9849636,essv9849591,essv9849699,essv9849635,essv9849603,essv9849690,essv9849637,essv9849602,essv9849687,essv9849638,essv9849607,essv9849682,essv9849634,essv9849564,essv9849703,essv9849587,essv9849693,essv9849590,essv9849689,essv9849566,essv9849698,essv9849633,essv9849697,essv9849589,essv9849700,essv9849578,essv9849694,essv9849596,essv9849686,essv9849592,essv9849704,essv9849615,essv9849692,essv9849598,essv9849688,essv9849611,essv9849691,essv9849594,essv9849696,essv9849614,essv9849702,essv9849622,essv9849683,essv9849570,essv9849685,essv9849619,essv9849695,essv9849584,essv9849684,essv9849568,essv9849558,essv9849621,essv9849543,essv9849588,essv9849547,essv9849574,essv9849549,essv9849581,essv9849553,essv9849625,essv9849537,essv9849612,essv9849552,essv9849572,essv9849541,essv9849575,essv9849546,essv9849528,essv9849548,essv9849532,essv9849545,essv9849530,essv9849534,essv9849533,essv9849535,essv9849526,essv9849556,essv9849527,essv9849554,essv9849531,essv9849551,essv9849529,essv9849540,essv9849538,essv9849557,essv9849539,essv9849555,essv9849542,essv9849550,essv9849536,essv9849544 M 2504 0 179 RERE HG01108,HG01167,HG01174,HG01247,HG01350,HG01384,HG01485,HG01489,HG01879,HG01883,HG01886,HG01894,HG01896,HG01914,HG01915,HG01951,HG01956,HG01985,HG02012,HG02013,HG02107,HG02108,HG02144,HG02256,HG02284,HG02314,HG02323,HG02325,HG02332,HG02427,HG02445,HG02470,HG02477,HG02484,HG02496,HG02505,HG02545,HG02571,HG02573,HG02580,HG02585,HG02586,HG02595,HG02678,HG02703,HG02722,HG02757,HG02768,HG02769,HG02798,HG02805,HG02808,HG02810,HG02813,HG02814,HG02817,HG02820,HG02837,HG02839,HG02854,HG02861,HG02878,HG02882,HG02884,HG02923,HG02943,HG02952,HG02953,HG02968,HG02973,HG02974,HG02977,HG03025,HG03028,HG03040,HG03045,HG03064,HG03069,HG03082,HG03086,HG03088,HG03103,HG03108,HG03115,HG03129,HG03132,HG03133,HG03160,HG03168,HG03190,HG03196,HG03224,HG03225,HG03259,HG03304,HG03311,HG03343,HG03366,HG03372,HG03391,HG03428,HG03433,HG03436,HG03442,HG03455,HG03458,HG03469,HG03476,HG03485,HG03517,HG03520,HG03521,HG03571,NA18508,NA18517,NA18520,NA18856,NA18858,NA18864,NA18865,NA18870,NA18874,NA18876,NA18915,NA18934,NA19027,NA19028,NA19030,NA19036,NA19093,NA19096,NA19116,NA19117,NA19118,NA19121,NA19129,NA19130,NA19146,NA19147,NA19153,NA19172,NA19185,NA19190,NA19197,NA19204,NA19206,NA19210,NA19235,NA19247,NA19248,NA19257,NA19310,NA19316,NA19317,NA19321,NA19355,NA19376,NA19379,NA19401,NA19429,NA19434,NA19438,NA19439,NA19445,NA19449,NA19454,NA19457,NA19462,NA19625,NA19658,NA19682,NA19684,NA19703,NA19835,NA20281,NA20287,NA20296,NA20299,NA20359 nsv5574931 1 8550246 8551325 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066503 M 35 0 1 RERE HG02818 nsv5878142 1 8550246 8551325 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17370984 M 914 0 1 RERE esv2658508 1 8550246 8551326 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6002612,essv6414719,essv6062960,essv5626398,essv6361968,essv5440404,essv5559262,essv5684596,essv6056060,essv5438161,essv6184313,essv5485459,essv5769185,essv6564525,essv6049526,essv6498976,essv5396045,essv5473287,essv6218155,essv5883424,essv6587455,essv5794451,essv5459792,essv5860653,essv6233344,essv5781398,essv5997657,essv5951206,essv6364724,essv6060066,essv6104798,essv6458320,essv6437544,essv5411462,essv5999450,essv6380234,essv5928864,essv6251894,essv5525731,essv5573556,essv5705056,essv5722851,essv5580820,essv5406895,essv5979257 M 1151 0 45 RERE HG01108,HG01174,HG01350,HG01384,HG01489,NA11931,NA18508,NA18517,NA18593,NA18856,NA18858,NA18870,NA18874,NA18934,NA19093,NA19129,NA19130,NA19147,NA19153,NA19190,NA19197,NA19204,NA19210,NA19235,NA19247,NA19257,NA19311,NA19316,NA19355,NA19371,NA19376,NA19379,NA19398,NA19401,NA19429,NA19434,NA19444,NA19445,NA19457,NA19462,NA19625,NA19682,NA19684,NA19703,NA19835 nsv6319449 1 8550246 8551326 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064779 M 19652 0 1 RERE nsv3325282 1 8550248 8551327 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474315,nssv14484033 M 14 0 2 RERE HG01352,NA19434 nsv5830492 1 8550257 8551356 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480856 M 914 0 0 RERE nsv4047019 1 8550270 8551299 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853612 M 10847 0 1 RERE esv25533 1 8550458 8551722 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11693,esv13828 M 40 0 4 RERE NA18517,NA18858,NA19129,NA19190 nsv3537685 1 8557307 8557307 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385569,nssv14440078 M 9 2 0 RERE HG00733,NA19240 nsv3227171 1 8557307 8564275 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260377,nssv14260379,nssv14260375,nssv14260380,nssv14260382,nssv14260383,nssv14260381,nssv14260378,nssv14260376 M 9 9 0 RERE HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4039664 1 8561089 8561279 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853629 M 10847 0 1 RERE nsv4050831 1 8561092 8561582 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965368 M 10847 1 0 RERE nsv3325944 1 8561097 8561179 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14813570 M 14 0 1 RERE HG02818 nsv3325945 1 8561267 8561393 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14813571 M 14 0 1 RERE HG02818 nsv5624384 1 8561446 8561446 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066507 M 35 1 0 RERE NA20509 nsv4756975 1 8561550 8561550 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295537 M 25 1 0 RERE nsv5984781 1 8561562 8561721 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536679 M 405 0 1 RERE nsv5619097 1 8561771 8561771 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066508 M 35 1 0 RERE HG00732 nsv3325946 1 8561927 8561927 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475219 M 14 1 0 RERE HG02106 nsv3939702 1 8561945 8561945 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192041 M 1 1 0 RERE HG002 nsv5613925 1 8561946 8561946 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066509 M 35 1 0 RERE HG03065 nsv3325285 1 8562063 8562063 CNV sva insertion Audano_et_al_2019 30661756 Sequencing nssv14487163,nssv14490155,nssv14476700 M 14 3 0 RERE HG00268,HG01352,HG02106 nsv2801705 1 8562103 8562103 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695745 M 2 1 0 RERE nsv3324833 1 8562103 8562103 CNV sva insertion Audano_et_al_2019 30661756 Sequencing nssv14491370,nssv14487698,nssv14490435,nssv14483890,nssv14479089,nssv14482043,nssv14487643,nssv14474204,nssv14473690,nssv14477270 M 14 10 0 RERE CHM13,HG00268,HG00733,HG01352,HG02059,HG02106,HX1,NA12878,NA19240,NA19434 nsv3557863 1 8562116 8562116 CNV sva insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375056,nssv14440079 M 9 2 0 RERE HG00733,NA19240 nsv3537896 1 8562189 8562189 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412693,nssv14381073,nssv14440080 M 9 3 0 RERE HG00514,HG00733,NA19240 nsv3942541 1 8562189 8562189 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192043 M 1 1 0 RERE HG002 nsv5612654 1 8562189 8562189 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066512,nssv17066510,nssv17066511 M 35 3 0 RERE HG00731,HG03125,NA24385 nsv2802331 1 8562190 8562190 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13702290 M 2 1 0 RERE nsv3325286 1 8562190 8562190 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482634,nssv14473007,nssv14483736,nssv14491858,nssv14485741,nssv14476452,nssv14480827,nssv14490903,nssv14490088,nssv14474345,nssv14486920,nssv14486260,nssv14474996 M 14 13 0 RERE CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv6053447 1 8562191 8562191 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521786 M 405 1 0 RERE nsv3532145 1 8562290 8562290 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412694 M 9 1 0 RERE HG00514 nsv4562577 1 8563150 8563151 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025038 M 10847 1 0 RERE nsv4565848 1 8563163 8563164 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025049 M 10847 1 0 RERE esv3391677 1 8569463 8569463 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740979 M 185 1 0 RERE NA19240 nsv3539859 1 8572077 8572077 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440081 M 9 1 0 RERE HG00733 nsv5965306 1 8576286 8576286 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17388339 M 914 1 0 RERE nsv5692328 1 8577139 8577139 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17232196 M 3202 1 0 RERE nsv5398225 1 8577139 8577146 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889346 M 3202 1 0 RERE nsv159615 1 8577616 8581235 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178193 M 24 RERE nsv5952535 1 8589346 8589346 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17383212 M 914 1 0 RERE nsv6317045 1 8589460 8590759 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064788 M 19652 0 1 RERE nsv6055399 1 8599967 8599967 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524996 M 405 1 0 RERE nsv6253549 1 8599967 8599967 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17854750 M 1021 1 0 RERE nsv4462449 1 8601607 8601608 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025063 M 10847 1 0 RERE nsv4462450 1 8604804 8604805 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025073 M 10847 1 0 RERE nsv6535613 1 8605908 8606662 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253936 M 19652 0 0 RERE nsv4462451 1 8607599 8607600 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025650 M 10847 1 0 RERE nsv4516906 1 8613021 8613079 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853645 M 10847 0 1 RERE nsv4049239 1 8613448 8613547 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853655 M 10847 0 1 RERE esv3687351 1 8614889 8614961 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16471693 M 20 0 0 RERE nsv4462144 1 8617096 8617097 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025661 M 10847 1 0 RERE nsv4035978 1 8619540 8619738 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853666 M 10847 0 1 RERE nsv6537507 1 8626399 8626906 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253940 M 19652 0 0 RERE nsv5830514 1 8632680 8634379 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17480866 M 914 0 0 RERE nsv4037531 1 8640907 8656353 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853681 M 10847 0 1 RERE nsv6333697 1 8647461 8648133 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065457 M 19652 0 1 RERE nsv6327536 1 8648329 8650666 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065458 M 19652 0 1 RERE nsv6330340 1 8655039 8669075 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065470 M 19652 0 1 RERE nsv6541957 1 8661077 8662463 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251889 M 19652 0 0 RERE nsv5690146 1 8662595 8662595 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17224000 M 3202 1 0 RERE nsv5868949 1 8664648 8664703 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17378717 M 914 0 1 RERE nsv3192212 1 8665805 8665921 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14318978 M 9 0 1 RERE NA19238 nsv4462860 1 8666326 8666327 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025675 M 10847 1 0 RERE nsv5718838 1 8666956 8666956 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17244412 M 3202 1 0 RERE nsv6538668 1 8667422 8667786 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251892 M 19652 0 0 RERE nsv5959682 1 8667593 8667593 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17380065 M 914 1 0 RERE nsv6552014 1 8667627 8669066 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251893 M 19652 0 0 RERE nsv5985104 1 8669050 8670422 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534940 M 405 0 1 RERE nsv947413 1 8669419 8674457 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2765449,nssv2756775,nssv2757427,nssv2761317 M 97 4 0 RERE HGDP00456,HGDP00778,HGDP00927,HGDP01029 nsv6334019 1 8670387 8674077 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205175 M 19652 1 0 RERE nsv826919 1 8671390 8673970 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1423363 M 31 1 0 RERE NA18968 esv26500 1 8671618 8685734 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv17365,esv10195,esv13894,esv15623 M 40 2 28 RERE NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12776,NA12828,NA12878,NA15510,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19108,NA19129,NA19147,NA19225,NA19240 nsv945758 1 8674457 8676429 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752574,nssv1752581,nssv1752580,nssv1752575,nssv1752579,nssv1752576,nssv1752583,nssv1752582,nssv1752577,nssv1752578 M 97 10 0 RERE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv827030 1 8674560 8685010 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1435647 M 31 0 1 RERE NA18566 nsv5538116 1 8677416 8677442 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889349 M 3202 1 0 RERE nsv5622487 1 8677442 8677442 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066532 M 35 1 0 RERE HG02818 nsv4536734 1 8677442 8677443 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024031 M 10847 1 0 RERE nsv5401342 1 8677455 8677482 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889351 M 3202 1 0 RERE esv3673117 1 8680477 8680478 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16495009 M 20 0 0 RERE nsv5423883 1 8688579 8688643 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889352 M 3202 0 1 RERE dgv11e212 1 8690933 8716080 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577719,esv3577718 M 873 0 2 RERE 401357MH,401804FG nsv4049648 1 8695180 8715880 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855640 M 10847 0 1 RERE nsv6323499 1 8695180 8715880 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065514 M 19652 0 1 RERE esv3577720 1 8695755 8707826 CNV loss Uddin_et_al_2014 25503493 SNP array essv9792422 M 873 0 1 RERE 400882DD nsv6316749 1 8702627 8703174 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065526 M 19652 0 1 RERE nsv5417551 1 8705050 8705213 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889353 M 3202 0 1 RERE nsv6319186 1 8705050 8705213 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065528 M 19652 0 1 RERE esv2743497 1 8705665 8706618 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6692752,essv6824972,essv6699591,essv6721997,essv6738800,essv6729611,essv6773428,essv6784985,essv6916596,essv6668935,essv6832590,essv6748220,essv6917414,essv6780859,essv6714231,essv6789142,essv6847000,essv6950541,essv6950139,essv6946482,essv6967919,essv6769508,essv6921704,essv6972324,essv6679157,essv6910032,essv6793273,essv6853223,essv6954728,essv6689251,essv6876665,essv6902523 M 96 0 32 RERE SSM003,SSM004,SSM008,SSM012,SSM013,SSM015,SSM017,SSM018,SSM024,SSM025,SSM026,SSM028,SSM029,SSM031,SSM033,SSM036,SSM037,SSM039,SSM043,SSM045,SSM047,SSM052,SSM065,SSM066,SSM068,SSM069,SSM070,SSM071,SSM080,SSM082,SSM086,SSM087 esv2743508 1 8705833 8706336 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6721997,essv6729611,essv6692752,essv6824972,essv6784985,essv6714231,essv6748220,essv6780859,essv6789142,essv6917414,essv6847000,essv6699591,essv6832590,essv6950541,essv6668935,essv6950139,essv6946482,essv6967919,essv6679157,essv6921704,essv6910032,essv6793273,essv6853223,essv6689251,essv6876665,essv6902523,essv6954728 M 96 0 27 RERE SSM004,SSM008,SSM012,SSM013,SSM015,SSM017,SSM018,SSM024,SSM025,SSM026,SSM028,SSM031,SSM033,SSM036,SSM037,SSM039,SSM043,SSM045,SSM047,SSM068,SSM069,SSM070,SSM071,SSM080,SSM082,SSM086,SSM087 esv2407042 1 8705946 8706370 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4792099 M 1 0 1 RERE NA18507 nsv1129127 1 8713261 8713320 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3961803 M 2 1 0 RERE KWS1 esv27511 1 8715188 8720239 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17675 M 40 2 0 RERE NA15510,NA18861 nsv827141 1 8715751 8719780 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1423374 M 31 1 0 RERE NA18968 nsv5423448 1 8717127 8717633 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889354 M 3202 0 1 RERE nsv6317976 1 8721734 8730330 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205184 M 19652 1 0 RERE esv2743519 1 8728615 8729481 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6773429,essv6859177,essv6847001,essv6747766,essv6738801,essv6668936,essv6776928,essv6714233,essv6735969,essv6753485,essv6954730,essv6759033,essv6961541,essv6742128,essv6972325,essv6876676 M 96 0 16 RERE SSM012,SSM026,SSM027,SSM029,SSM031,SSM043,SSM050,SSM052,SSM053,SSM056,SSM058,SSM061,SSM066,SSM067,SSM086,SSM088 esv2384996 1 8728829 8729270 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4771378 M 1 0 1 RERE NA18507 esv2743530 1 8728882 8729237 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859177,essv6776928,essv6961541,essv6847001,essv6668936,essv6954730 M 96 0 6 RERE SSM026,SSM027,SSM031,SSM067,SSM086,SSM088 nsv5573601 1 8728953 8729052 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067047 M 35 0 1 RERE HG00731 nsv3181665 1 8728954 8729054 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413623 M 9 0 0 RERE HG00514 nsv2801707 1 8728955 8729054 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13685396 M 2 0 1 RERE nsv3325952 1 8728955 8729054 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473003,nssv14481515,nssv14487276,nssv14479791,nssv14478180,nssv14484414,nssv14490136,nssv14479350,nssv14474997 M 14 0 9 RERE CHM13,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv5428838 1 8728977 8729256 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889355 M 3202 0 1 RERE nsv4390854 1 8728979 8729078 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15703515 M 174 0 1 RERE esv3681534 1 8728983 8729102 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16502585 M 20 0 1 RERE esv2743541 1 8728984 8729140 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859177,essv6668936,essv6847001,essv6961541,essv6954730 M 96 0 5 RERE SSM026,SSM027,SSM031,SSM086,SSM088 nsv4449247 1 8728991 8729083 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15758396 M 1 0 1 RERE nsv5985109 1 8728991 8729083 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518700 M 405 0 1 RERE nsv3200664 1 8728993 8729083 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14317875,nssv14317874 M 9 0 2 RERE HG00513,NA19238 nsv3188643 1 8729007 8729083 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376489,nssv14440490 M 9 0 0 RERE HG00733,NA19240 nsv4737958 1 8729012 8729103 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285952 M 25 0 1 RERE esv2743552 1 8729027 8729101 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859177,essv6847001,essv6961541,essv6954730 M 96 0 4 RERE SSM026,SSM027,SSM086,SSM088 nsv5428527 1 8737420 8738364 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889358 M 3202 1 0 RERE nsv4534771 1 8750341 8750342 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024047 M 10847 1 0 RERE nsv5430858 1 8751246 8752661 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889359 M 3202 0 1 RERE nsv5420135 1 8752365 8752464 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889360 M 3202 1 0 RERE nsv4462150 1 8753864 8753865 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024057 M 10847 1 0 RERE nsv4048909 1 8759337 8759417 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855668 M 10847 0 1 RERE nsv5425014 1 8759337 8759417 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889364 M 3202 0 1 RERE nsv6332552 1 8761360 8766259 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205190 M 19652 1 0 RERE nsv953453 1 8763001 8775100 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3001734 M 1 1 0 RERE BILGI_BIOE nsv1126175 1 8763200 8763500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984404 M 2 0 1 RERE KWS1 nsv3325959 1 8763600 8763720 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480073 M 14 0 1 RERE HG02059 esv3585150 1 8765907 8775376 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849705 M 2504 0 1 RERE NA18508 nsv5433790 1 8765930 8775295 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889375 M 3202 0 1 RERE nsv5730031 1 8766190 8766190 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17245045,nssv17241106 M 3202 2 0 RERE esv25426 1 8766443 8774912 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17965 M 40 0 1 RERE NA18508 esv3692756 1 8767311 8774451 CNV loss Palta_et_al_2015 25853576 SNP array essv16509039,essv16508723 M 199 0 2 RERE NA18506,NA18508 nsv6540500 1 8770670 8771222 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251918 M 19652 0 0 RERE nsv1006756 1 8771440 8809049 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469495 M 11257 1 0 RERE nsv4462457 1 8771667 8771668 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024077 M 10847 1 0 RERE nsv6547840 1 8774991 8775424 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251920 M 19652 0 0 RERE nsv6547308 1 8780982 8781685 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251921 M 19652 0 0 RERE nsv5677754 1 8784949 8784949 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203606 M 3202 1 0 RERE nsv6253660 1 8784949 8784949 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17854761 M 1021 1 0 RERE nsv4032496 1 8786219 8787097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855678 M 10847 0 1 RERE nsv4042444 1 8786618 8791068 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855685 M 10847 0 1 RERE nsv6537785 1 8788960 8789557 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251923 M 19652 0 0 RERE nsv5870038 1 8792435 8792667 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17396564 M 914 0 1 RERE nsv4039455 1 8792435 8792679 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855695 M 10847 0 1 RERE nsv5415064 1 8792435 8792679 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889386 M 3202 0 1 RERE nsv6316814 1 8792435 8792679 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064499 M 19652 0 1 RERE nsv5886461 1 8793053 8793114 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17399080 M 914 0 1 RERE nsv4040391 1 8795716 8795772 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855705 M 10847 0 1 RERE nsv6253771 1 8796934 8796934 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17854818 M 1021 1 0 RERE nsv3192027 1 8799876 8799934 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14317280 M 9 0 1 RERE NA19238 nsv4462153 1 8800179 8800180 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024087 M 10847 1 0 RERE nsv4533930 1 8800622 8800623 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024097 M 10847 1 0 RERE nsv5681931 1 8800635 8800635 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17217985 M 3202 1 0 RERE nsv5400003 1 8800635 8800686 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889397 M 3202 1 0 RERE esv3655011 1 8802926 8802926 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478713 M 20 1 0 RERE nsv5729802 1 8804607 8804607 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17243119 M 3202 1 0 RERE nsv4564417 1 8804607 8804608 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024108 M 10847 1 0 RERE nsv5693760 1 8804625 8804625 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17230368 M 3202 1 0 RERE nsv5413098 1 8804625 8804676 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889408 M 3202 1 0 RERE nsv945760 1 8808975 8811704 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752594,nssv1752612,nssv1752669,nssv1752602,nssv1752587,nssv1752607,nssv1752585,nssv1752614,nssv1752593,nssv1752668,nssv1752586,nssv1752620,nssv1752660,nssv1752617,nssv1752640,nssv1752601,nssv1752636,nssv1752599,nssv1752632,nssv1752670,nssv1752658,nssv1752613,nssv1752628,nssv1752664,nssv1752680,nssv1752610,nssv1752622,nssv1752592,nssv1752676,nssv1752590,nssv1752653,nssv1752661,nssv1752639,nssv1752605,nssv1752629,nssv1752608,nssv1752655,nssv1752666,nssv1752657,nssv1752584,nssv1752674,nssv1752591,nssv1752635,nssv1752598,nssv1752672,nssv1752616,nssv1752644,nssv1752665,nssv1752642,nssv1752596,nssv1752659,nssv1752588,nssv1752649,nssv1752606,nssv1752641,nssv1752597,nssv1752679,nssv1752663,nssv1752678,nssv1752595,nssv1752643,nssv1752609,nssv1752626,nssv1752615,nssv1752646,nssv1752618,nssv1752645,nssv1752611,nssv1752673,nssv1752600,nssv1752627,nssv1752667,nssv1752652,nssv1752604,nssv1752677,nssv1752589,nssv1752631,nssv1752621,nssv1752648,nssv1752603,nssv1752634,nssv1752619,nssv1752651,nssv1752662,nssv1752647,nssv1752656,nssv1752654,nssv1752671,nssv1752675,nssv1752625,nssv1752633,nssv1752630,nssv1752623,nssv1752624,nssv1752638,nssv1752637,nssv1752650 M 97 10 0 RERE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1854 1 8826155 8859690 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7349 M 9 1 0 RERE NA12156 nsv6317924 1 8827576 8827936 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205195 M 19652 1 0 RERE nsv6322968 1 8828882 8836022 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064523 M 19652 0 1 RERE nsv5730293 1 8831968 8831968 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17234652,nssv17249072 M 3202 2 0 RERE nsv6328992 1 8832885 8833622 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064526 M 19652 0 1 RERE nsv6047338 1 8833898 8833898 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531810 M 405 1 0 RERE nsv6335112 1 8838087 8852025 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064529 M 19652 0 1 RERE nsv6543923 1 8838618 8839202 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251929 M 19652 0 0 RERE nsv6317519 1 8839207 8842790 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064530 M 19652 0 1 RERE nsv945761 1 8845223 8849700 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752717,nssv1752738,nssv1752715,nssv1752737,nssv1752764,nssv1752745,nssv1752716,nssv1752747,nssv1752718,nssv1752735,nssv1752707,nssv1752727,nssv1752762,nssv1752730,nssv1752767,nssv1752777,nssv1752696,nssv1752720,nssv1752700,nssv1752733,nssv1752689,nssv1752734,nssv1752706,nssv1752729,nssv1752687,nssv1752750,nssv1752765,nssv1752755,nssv1752685,nssv1752770,nssv1752692,nssv1752736,nssv1752688,nssv1752752,nssv1752761,nssv1752757,nssv1752758,nssv1752739,nssv1752694,nssv1752741,nssv1752714,nssv1752740,nssv1752760,nssv1752772,nssv1752713,nssv1752756,nssv1752710,nssv1752726,nssv1752759,nssv1752769,nssv1752681,nssv1752731,nssv1752705,nssv1752775,nssv1752695,nssv1752749,nssv1752708,nssv1752771,nssv1752709,nssv1752719,nssv1752704,nssv1752773,nssv1752763,nssv1752723,nssv1752686,nssv1752742,nssv1752698,nssv1752754,nssv1752693,nssv1752753,nssv1752711,nssv1752768,nssv1752712,nssv1752725,nssv1752702,nssv1752748,nssv1752697,nssv1752722,nssv1752701,nssv1752724,nssv1752703,nssv1752732,nssv1752699,nssv1752776,nssv1752684,nssv1752721,nssv1752691,nssv1752774,nssv1752766,nssv1752751,nssv1752682,nssv1752728,nssv1752683,nssv1752743,nssv1752690,nssv1752744,nssv1752746 M 97 10 0 RERE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4040691 1 8847543 8847598 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855711 M 10847 0 1 RERE nsv6546268 1 8847611 8848526 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251931 M 19652 0 0 RERE nsv3238299 1 8849361 8853930 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14316762 M 9 0 0 RERE NA19238 nsv4044141 1 8854304 8858307 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855721 M 10847 0 1 RERE nsv6554626 1 8858156 8858783 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251933 M 19652 0 0 RERE nsv5872297 1 8858241 8858310 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17401172 M 914 0 1 RERE nsv1113072 1 8863422 8863507 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967962 M 2 0 1 RERE KWS2 nsv4462871 1 8864567 8864568 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024118 M 10847 1 0 RERE nsv6542594 1 8865522 8866105 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251934 M 19652 0 0 RERE nsv4534711 1 8882279 8882280 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024127 M 10847 1 0 "" nsv945762 1 8883369 8896803 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752807,nssv1752818,nssv1752809,nssv1753258,nssv1752792,nssv1752821,nssv1752811,nssv1753244,nssv1752791,nssv1752841,nssv1752793,nssv1752825,nssv1752808,nssv1753259,nssv1752802,nssv1752839,nssv1752798,nssv1753262,nssv1752800,nssv1752822,nssv1752803,nssv1753238,nssv1753255,nssv1753234,nssv1752813,nssv1752820,nssv1752810,nssv1752836,nssv1752814,nssv1752840,nssv1752786,nssv1752819,nssv1752782,nssv1752817,nssv1752815,nssv1752827,nssv1752799,nssv1753237,nssv1752805,nssv1752824,nssv1752806,nssv1753265,nssv1752785,nssv1753239,nssv1752801,nssv1753261,nssv1752784,nssv1753260,nssv1752812,nssv1752826,nssv1753250,nssv1753241,nssv1753251,nssv1752832,nssv1753246,nssv1752829,nssv1752778,nssv1752835,nssv1753248,nssv1753233,nssv1752783,nssv1753236,nssv1753253,nssv1752830,nssv1752789,nssv1752833,nssv1752804,nssv1752834,nssv1752796,nssv1752837,nssv1752790,nssv1753245,nssv1753249,nssv1752831,nssv1752794,nssv1753235,nssv1753252,nssv1753242,nssv1753247,nssv1752838,nssv1752797,nssv1753257,nssv1752795,nssv1752816,nssv1752780,nssv1753263,nssv1753254,nssv1752828,nssv1752788,nssv1752823,nssv1752781,nssv1753264,nssv1752779,nssv1753256,nssv1752787,nssv1753243,nssv1753240 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4033651 1 8884821 8888465 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855729 M 10847 0 1 "" nsv4036295 1 8884931 8885825 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965369 M 10847 1 0 "" nsv4042964 1 8885000 8890000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856183 M 10847 0 1 "" nsv4561132 1 8885039 8885040 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025687 M 10847 1 0 "" nsv6316852 1 8885592 8886820 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064570 M 19652 0 1 "" nsv5430287 1 8885824 8886872 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889426 M 3202 0 1 "" nsv4038383 1 8885825 8886876 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856190 M 10847 0 1 "" nsv6318062 1 8886670 8890371 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205199 M 19652 1 0 "" nsv4038338 1 8886697 8890335 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965370 M 10847 1 0 "" nsv5417196 1 8886927 8891000 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889427 M 3202 0 1 "" esv2758919 1 8888241 8916640 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757721 M 270 1 0 "" NA18863 nsv5876321 1 8888311 8889361 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17401485 M 914 1 0 "" nsv6323241 1 8888311 8889362 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205200 M 19652 1 0 "" nsv5432447 1 8888311 8889387 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889428 M 3202 1 0 "" nsv4517255 1 8888312 8889408 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965371 M 10847 1 0 "" nsv1010058 1 8890782 8905149 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469656 M 11257 1 0 "" nsv545345 1 8891125 9095610 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709653 M 17421 1 0 CA6,ENO1,ENO1-AS1,MIR6728,SLC2A7 nsv4044433 1 8893052 8897372 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856571 M 10847 0 1 "" nsv5422234 1 8893052 8897372 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889429 M 3202 0 1 "" nsv6324375 1 8893052 8897372 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064573 M 19652 0 1 "" nsv6321200 1 8893157 8893868 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064574 M 19652 0 1 "" nsv5431904 1 8893185 8893868 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889430 M 3202 0 1 "" nsv6542414 1 8893968 8894530 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251936 M 19652 0 0 "" nsv5984971 1 8894053 8894107 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534495 M 405 0 1 "" nsv6330819 1 8894677 8895775 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064575 M 19652 0 1 "" nsv6540827 1 8894831 8895436 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251937 M 19652 0 0 "" esv3585151 1 8896797 8908252 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849706 M 2504 1 0 "" HG00437 nsv5426590 1 8896905 8908589 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889431 M 3202 1 0 "" nsv6324723 1 8900953 8936656 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205201 M 19652 1 0 ENO1,MIR6728 nsv6332439 1 8902396 8902872 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064591 M 19652 0 1 "" esv3585152 1 8902400 8903006 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849707 M 2504 0 1 "" HG02238 nsv5423884 1 8902421 8902996 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889432 M 3202 0 1 "" nsv5879386 1 8902545 8902718 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17403475 M 914 0 1 "" nsv1001865 1 8903931 8933242 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3463122 M 11257 1 0 ENO1,MIR6728 nsv4734147 1 8904050 8904126 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281056 M 25 0 1 "" nsv5675424 1 8904059 8904059 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17217101 M 3202 1 0 "" nsv5985019 1 8904093 8904149 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520091 M 405 0 1 "" nsv5985113 1 8908480 8911853 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530840 M 405 0 1 "" nsv6333025 1 8908711 8910633 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205203 M 19652 1 0 "" nsv4039935 1 8911627 8912277 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853696 M 10847 0 1 "" nsv6333708 1 8913379 8915096 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064607 M 19652 0 1 "" nsv6542398 1 8915077 8916218 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251938 M 19652 0 0 "" nsv5430429 1 8918319 8918435 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889434 M 3202 0 1 "" nsv5984973 1 8919013 8919984 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532524 M 405 0 1 "" nsv6043927 1 8922642 8922642 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533664 M 405 1 0 ENO1 nsv4462735 1 8922642 8922643 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025697 M 10847 1 0 ENO1 nsv5680495 1 8922655 8922655 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17227686 M 3202 1 0 ENO1 nsv5395714 1 8922655 8922706 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889436 M 3202 1 0 ENO1 nsv5877304 1 8923004 8923292 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17408199 M 914 0 1 ENO1 nsv4048588 1 8923652 8923737 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853716 M 10847 0 1 ENO1 esv3585154 1 8924066 8925394 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9849709 M 2504 0 1 ENO1 HG02058 nsv4048278 1 8924742 8924926 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853725 M 10847 0 1 ENO1 nsv4462465 1 8924826 8924827 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025706 M 10847 1 0 ENO1 nsv5624500 1 8929287 8929287 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067287 M 35 1 0 ENO1 HG02818 nsv4532828 1 8929287 8929288 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025717 M 10847 1 0 ENO1 nsv3325964 1 8929288 8929288 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14474727 M 14 1 0 ENO1 HG02818 nsv5686936 1 8929303 8929303 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17213976,nssv17203607 M 3202 2 0 ENO1 nsv5542070 1 8929303 8929311 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889438 M 3202 1 0 ENO1 nsv5605950 1 8931774 8931774 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067288 M 35 1 0 ENO1 HG01505 nsv6316386 1 8932007 8936883 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064875 M 19652 0 1 ENO1 nsv5875354 1 8936680 8937637 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17393749 M 914 0 1 ENO1 nsv6321296 1 8937860 8939559 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205206 M 19652 1 0 ENO1,ENO1-AS1 nsv6320847 1 8941325 9031112 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205208 M 19652 1 0 CA6 nsv6550152 1 8941933 8942573 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251949 M 19652 0 0 "" nsv6330025 1 8945137 8945508 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064887 M 19652 0 1 "" nsv5874265 1 8948507 8948801 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17403450 M 914 0 1 "" nsv4046883 1 8950867 8951367 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853735 M 10847 0 1 "" nsv6327727 1 8950906 8951360 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064891 M 19652 0 1 "" nsv945763 1 8953626 8964009 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753289,nssv1753325,nssv1753291,nssv1753316,nssv1753297,nssv1753337,nssv1753278,nssv1753307,nssv1753295,nssv1753322,nssv1753298,nssv1753306,nssv1753287,nssv1753320,nssv1753288,nssv1753326,nssv1753352,nssv1753341,nssv1753266,nssv1753361,nssv1753292,nssv1753359,nssv1753274,nssv1753311,nssv1753294,nssv1753321,nssv1753349,nssv1753304,nssv1753285,nssv1753340,nssv1753280,nssv1753314,nssv1753284,nssv1753319,nssv1753273,nssv1753356,nssv1753302,nssv1753355,nssv1753343,nssv1753358,nssv1753277,nssv1753336,nssv1753279,nssv1753335,nssv1753344,nssv1753353,nssv1753296,nssv1753313,nssv1753272,nssv1753309,nssv1753301,nssv1753318,nssv1753282,nssv1753310,nssv1753283,nssv1753327,nssv1753293,nssv1753323,nssv1753281,nssv1753362,nssv1753270,nssv1753329,nssv1753290,nssv1753338,nssv1753347,nssv1753334,nssv1753303,nssv1753333,nssv1753348,nssv1753330,nssv1753350,nssv1753312,nssv1753271,nssv1753354,nssv1753345,nssv1753308,nssv1753346,nssv1753315,nssv1753299,nssv1753342,nssv1753300,nssv1753331,nssv1753286,nssv1753360,nssv1753351,nssv1753305,nssv1753275,nssv1753332,nssv1753269,nssv1753324,nssv1753268,nssv1753317,nssv1753276,nssv1753357,nssv1753267,nssv1753328,nssv1753339 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4462161 1 8958081 8958082 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025726 M 10847 1 0 "" nsv5886127 1 8958253 8959721 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17397175 M 914 0 1 "" nsv4047397 1 8958253 8959722 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853744 M 10847 0 1 "" nsv5830535 1 8958282 8959731 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482432 M 914 0 0 "" nsv6054918 1 8958526 8958526 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529620 M 405 1 0 "" nsv6334009 1 8959618 8961165 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064901 M 19652 0 1 "" nsv1113073 1 8960279 8960338 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967963 M 2 0 1 "" KWS2 nsv6327687 1 8962712 8979494 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064905 M 19652 0 1 "" nsv945764 1 8965818 8969898 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753368,nssv1753425,nssv1753391,nssv1753452,nssv1753441,nssv1753423,nssv1753386,nssv1753409,nssv1753387,nssv1753406,nssv1753394,nssv1753421,nssv1753447,nssv1753457,nssv1753378,nssv1753410,nssv1753385,nssv1753451,nssv1753393,nssv1753415,nssv1753442,nssv1753439,nssv1753397,nssv1753402,nssv1753376,nssv1753428,nssv1753440,nssv1753412,nssv1753449,nssv1753438,nssv1753400,nssv1753417,nssv1753371,nssv1753429,nssv1753370,nssv1753450,nssv1753398,nssv1753454,nssv1753367,nssv1753413,nssv1753381,nssv1753434,nssv1753396,nssv1753403,nssv1753399,nssv1753408,nssv1753382,nssv1753419,nssv1753375,nssv1753418,nssv1753383,nssv1753456,nssv1753384,nssv1753414,nssv1753446,nssv1753436,nssv1753392,nssv1753437,nssv1753374,nssv1753458,nssv1753444,nssv1753405,nssv1753380,nssv1753416,nssv1753369,nssv1753427,nssv1753388,nssv1753411,nssv1753377,nssv1753433,nssv1753445,nssv1753422,nssv1753395,nssv1753401,nssv1753389,nssv1753432,nssv1753443,nssv1753435,nssv1753363,nssv1753424,nssv1753379,nssv1753431,nssv1753390,nssv1753459,nssv1753448,nssv1753430,nssv1753366,nssv1753420,nssv1753365,nssv1753404,nssv1753373,nssv1753407,nssv1753372,nssv1753455,nssv1753364,nssv1753426,nssv1753453 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5416038 1 8966179 8966821 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889439 M 3202 0 1 "" nsv5573698 1 8966510 8966820 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067297 M 35 0 1 "" HG00864 nsv6138846 1 8966510 8966821 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889440 M 3202 0 1 "" nsv4049777 1 8966531 8966832 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853761 M 10847 0 1 "" nsv5433100 1 8966842 8967156 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889441 M 3202 0 1 "" nsv3542469 1 8972231 8972231 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440082 M 9 1 0 "" HG00733 nsv3941302 1 8972231 8972231 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192045,nssv15192044 M 1 1 0 "" HG002 nsv5612534 1 8972231 8972231 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067300,nssv17067301 M 35 2 0 "" HG00731,NA19238 nsv5955518 1 8972231 8972231 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17390228 M 914 1 0 "" nsv2801712 1 8972232 8972232 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680325 M 2 1 0 "" nsv4764678 1 8972234 8972234 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16285285 M 25 1 0 "" nsv3325308 1 8972285 8972285 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481052,nssv14488139,nssv14486026 M 14 3 0 "" HG00733,HG01352,NA19434 nsv3532270 1 8972287 8972287 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389052 M 9 1 0 "" NA19240 nsv6056187 1 8972297 8972297 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520516 M 405 1 0 "" esv3655079 1 8976768 8976768 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478775 M 20 1 0 "" esv2670913 1 8976892 8978092 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5746434,essv6311641 M 1151 0 2 "" HG01108,NA18523 nsv5423037 1 8977110 8977991 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889452 M 3202 0 1 "" esv3585157 1 8977136 8978028 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850134,essv9850135,essv9850136 M 2504 0 3 "" HG01108,HG02317,HG02462 nsv6319033 1 8977460 8978559 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205215 M 19652 1 0 "" nsv4033085 1 8979826 8988177 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853768 M 10847 0 1 "" nsv4051041 1 8980079 8980200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853778 M 10847 0 1 "" nsv6138855 1 8988059 8995059 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889463 M 3202 1 0 "" nsv5694016 1 8988535 8988535 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17221192 M 3202 1 0 "" nsv6253860 1 8988535 8988535 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17854862 M 1021 1 0 "" esv3655143 1 8989510 8989510 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478832 M 20 1 0 "" nsv6138541 1 8990943 8991363 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889485 M 3202 0 1 "" nsv4517207 1 8990943 8992010 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15853787 M 10847 0 1 "" nsv5416943 1 8990943 8992010 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889474 M 3202 0 1 "" nsv527110 1 8991141 8991873 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703492 M 2026 0 1 "" nsv5872007 1 8991591 8992002 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17398809 M 914 0 1 "" nsv6545395 1 8995120 8995874 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251964 M 19652 0 0 "" nsv5882496 1 8996394 8996686 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17395327 M 914 0 1 "" nsv6554262 1 8996485 8997292 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251965 M 19652 0 0 "" nsv3525215 1 8996669 8996916 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14318428,nssv14318427,nssv14318425,nssv14318426,nssv14318430,nssv14318429,nssv14318424,nssv14318423 M 9 0 8 "" HG00512,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv6329234 1 8998660 8999859 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064921 M 19652 0 1 "" nsv5420991 1 8998663 9000041 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889496 M 3202 0 1 "" esv3585158 1 8998691 9000106 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850137,essv9850138,essv9850140,essv9850139,essv9850141 M 2504 0 5 "" HG00266,HG01625,HG01631,HG01784,HG02277 nsv6538418 1 9001013 9001665 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251966 M 19652 0 0 "" esv2763506 1 9001487 9027914 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7031523 M 1109 1 0 CA6 SW_1056 esv3585159 1 9001741 9002484 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850142 M 2504 0 1 "" HG03713 nsv1965 1 9003738 9007657 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3239 M 9 1 0 CA6 NA12878 nsv5830702 1 9005884 9007633 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481584 M 914 0 0 CA6 nsv5424842 1 9006144 9006867 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889518 M 3202 0 1 CA6 esv3585160 1 9006369 9012990 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850149,essv9850150,essv9850147,essv9850146,essv9850145,essv9850143,essv9850148,essv9850144 M 2504 0 8 CA6 HG02481,HG02836,HG02878,HG03224,HG03363,HG03410,NA18881,NA20289 nsv6322841 1 9006377 9012970 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064925 M 19652 0 1 CA6 nsv4048844 1 9006378 9012943 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854362 M 10847 0 1 CA6 nsv6139069 1 9006378 9012970 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889529 M 3202 0 1 CA6 esv2762130 1 9007556 9012737 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004941 M 1109 0 1 CA6 RW_0183 nsv516097 1 9009406 9011722 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv671439,nssv671111,nssv669183,nssv660579,nssv660728,nssv666175,nssv660321,nssv671923,nssv692368 M 2026 0 9 CA6 nsv6326995 1 9010122 9012219 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064927 M 19652 0 1 CA6 nsv5424507 1 9012033 9017506 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889530 M 3202 0 1 CA6 esv3890637 1 9015436 9044562 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25789263 M 3017 1 0 CA6 nsv4533728 1 9015675 9015676 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025736 M 10847 1 0 CA6 nsv6043990 1 9015681 9015681 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534595 M 405 1 0 CA6 nsv6538443 1 9019599 9019790 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251968 M 19652 0 0 CA6 nsv471857 1 9020717 9020717 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020083 M 9 1 0 CA6 NA18555 nsv5429396 1 9023238 9023431 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889531 M 3202 0 1 CA6 nsv4558019 1 9025086 9025087 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025746 M 10847 1 0 CA6 nsv6040601 1 9025096 9025096 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525926 M 405 1 0 CA6 nsv5870365 1 9029038 9029334 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17393741 M 914 0 1 CA6 nsv6542434 1 9030175 9030704 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251972 M 19652 0 0 CA6 nsv5985020 1 9033795 9033860 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532446 M 405 0 1 CA6 nsv5422383 1 9037433 9038419 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889532 M 3202 0 1 "" nsv6334162 1 9037529 9038460 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064949 M 19652 0 1 "" nsv5609207 1 9037759 9037759 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066555 M 35 1 0 "" HG00171 nsv6045370 1 9037759 9037759 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530315 M 405 1 0 "" nsv5954137 1 9037769 9037769 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17392716 M 914 1 0 "" nsv4532988 1 9037769 9037770 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025767 M 10847 1 0 "" nsv4536154 1 9037773 9037774 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025776 M 10847 1 0 "" nsv4534892 1 9037785 9037786 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025787,nssv16025798 M 10847 2 0 "" nsv4517913 1 9038375 9044053 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854380 M 10847 0 1 "" nsv6325267 1 9038435 9040464 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064951 M 19652 0 1 "" nsv4039730 1 9038644 9055455 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854398 M 10847 0 1 "" nsv6330570 1 9038683 9055461 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064952 M 19652 0 1 "" nsv6253922 1 9038733 9038733 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17854873 M 1021 1 0 "" nsv526389 1 9039022 9049872 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv702688 M 2026 0 1 "" esv2763512 1 9039022 9056507 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7031634 M 1109 0 1 "" SW_1309 nsv1009004 1 9039704 9074465 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482463 M 11257 0 1 SLC2A7 nsv5985221 1 9044441 9044503 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526248 M 405 0 1 "" esv3655200 1 9044497 9044497 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478884 M 20 1 0 "" nsv4517197 1 9046599 9046792 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965372 M 10847 1 0 "" nsv5428453 1 9046599 9046792 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889533 M 3202 1 0 "" nsv6326708 1 9047287 9113885 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064958 M 19652 0 1 SLC2A5,SLC2A7 dgv15n100 1 9052154 9116743 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009990,nsv1005347 M 11257 0 2 SLC2A5,SLC2A7 nsv5830802 1 9054571 9078704 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481589 M 914 0 0 SLC2A7 nsv5675737 1 9054661 9054661 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17229738,nssv17203608 M 3202 2 0 "" nsv5870697 1 9056214 9056334 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17391587 M 914 0 1 "" nsv4046983 1 9056217 9056335 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854658 M 10847 0 1 "" nsv5422653 1 9056217 9056335 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889535 M 3202 0 1 "" nsv4035879 1 9058309 9083542 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965373 M 10847 1 0 SLC2A7 nsv462616 1 9058546 9080966 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538732 M 1557 1 0 SLC2A7 HGDP00806 nsv525092 1 9058546 9080966 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv701151 M 2026 1 0 SLC2A7 nsv545346 1 9058546 9080966 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173657 M 17421 1 0 SLC2A7 HGDP00806 nsv6330193 1 9060516 9183808 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18205224 M 19652 1 0 GPR157,SLC2A5,SLC2A7 nsv1004025 1 9061042 9129145 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467938 M 11257 1 0 SLC2A5,SLC2A7 nsv462727 1 9080411 9133056 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv538823 M 1557 0 1 SLC2A5,SLC2A7 1780854205_A nsv545347 1 9080411 9133056 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173658 M 17421 0 1 SLC2A5,SLC2A7 1780854205_A nsv4329972 1 9083001 9103211 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788893 M 10847 0 0 SLC2A5,SLC2A7 nsv6325784 1 9083024 9086485 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065010 M 19652 0 1 SLC2A7 nsv4036893 1 9089943 9090675 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854665 M 10847 0 1 "" esv2669366 1 9090088 9090675 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5962881,essv5573944 M 1151 0 2 "" NA19257,NA19469 nsv5423355 1 9090088 9090675 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889536 M 3202 0 1 "" nsv6324290 1 9090088 9090675 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065007 M 19652 0 1 "" nsv831981 1 9091717 9247567 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442663 M 95 0 1 GPR157,MIR34A,SLC2A5 nsv6332475 1 9093189 9099463 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064974 M 19652 0 1 SLC2A5 nsv4563485 1 9098790 9098791 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024145 M 10847 1 0 SLC2A5 esv3577721 1 9104452 9119988 CNV loss Uddin_et_al_2014 25503493 SNP array essv9792644,essv9792533,essv9792866,essv9792755,essv9793088,essv9792977 M 873 0 6 SLC2A5 400413FJ,401093VL,401146US,401513KC,401591BE,401856GC esv3585161 1 9105430 9109497 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850151,essv9850152 M 2504 2 0 SLC2A5 HG00105,NA11995 nsv4049008 1 9105664 9109500 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965374 M 10847 1 0 SLC2A5 nsv5426981 1 9105664 9109536 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889537 M 3202 1 0 SLC2A5 nsv6317622 1 9105664 9109536 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203145 M 19652 1 0 SLC2A5 nsv6551650 1 9108371 9108970 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251986 M 19652 0 0 SLC2A5 nsv6046922 1 9113129 9113129 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528049 M 405 1 0 SLC2A5 nsv3325599 1 9113347 9113347 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476852,nssv14491776 M 14 2 0 SLC2A5 HG00268,NA19240 nsv4751452 1 9113348 9113348 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16287876 M 25 1 0 SLC2A5 nsv3537429 1 9113349 9113349 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412695 M 9 1 0 SLC2A5 HG00514 nsv3325313 1 9113411 9113411 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488994,nssv14489168,nssv14475049,nssv14485679,nssv14477863,nssv14474949,nssv14481966,nssv14481797 M 14 8 0 SLC2A5 HG00268,HG00733,HG01352,HG02106,HG02818,HG04217,NA12878,NA19434 nsv3541356 1 9113445 9113445 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440083 M 9 1 0 SLC2A5 HG00733 nsv2802436 1 9113451 9113451 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13706863 M 2 1 0 SLC2A5 nsv3325978 1 9113451 9113451 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479947,nssv14482346,nssv14475907,nssv14486040,nssv14480917,nssv14482867,nssv14483007,nssv14484688 M 14 8 0 SLC2A5 CHM13,HG00268,HG01352,HG02106,HG02818,HG04217,NA12878,NA19434 nsv3540601 1 9113454 9113454 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387437 M 9 1 0 SLC2A5 NA19240 nsv3953862 1 9113461 9113461 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192046 M 1 1 0 SLC2A5 HG002 nsv4033384 1 9113468 9117700 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854670 M 10847 0 1 SLC2A5 nsv5423114 1 9113468 9117700 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16889538 M 3202 0 1 SLC2A5 nsv6324743 1 9113468 9117700 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065018 M 19652 0 1 SLC2A5 nsv5618692 1 9113512 9113512 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068243 M 35 1 0 SLC2A5 HG00512 nsv5615263 1 9113514 9113514 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068244 M 35 1 0 SLC2A5 HG00731 nsv6051261 1 9113514 9113514 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525375 M 405 1 0 SLC2A5 nsv3325314 1 9113515 9113515 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474958,nssv14486475,nssv14483553,nssv14477108,nssv14475732,nssv14478828,nssv14477021,nssv14478367 M 14 8 0 SLC2A5 HG00268,HG00733,HG01352,HG02059,HG02818,NA12878,NA19240,NA19434 esv1504235 1 9113520 9113520 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3665009 M 2 1 0 SLC2A5 HuRef nsv3533018 1 9113523 9113523 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441194 M 9 1 0 SLC2A5 HG00733 nsv3541848 1 9113524 9113524 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386549 M 9 1 0 SLC2A5 NA19240 nsv2801715 1 9113527 9113527 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680195,nssv13686525 M 2 2 0 SLC2A5 nsv3325315 1 9113527 9113527 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485680,nssv14476233,nssv14481372,nssv14481153,nssv14480883,nssv14483947,nssv14475394,nssv14479835,nssv14473384,nssv14488412,nssv14483862,nssv14477031,nssv14473732 M 14 13 0 SLC2A5 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 esv1740239 1 9113555 9113555 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4265262 M 2 1 0 SLC2A5 HuRef nsv4044577 1 9115618 9121917 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854676 M 10847 0 1 SLC2A5 nsv4039572 1 9119207 9119886 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854687 M 10847 0 1 SLC2A5 nsv5874368 1 9120066 9120122 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17390869 M 914 0 1 SLC2A5 nsv512717 1 9120955 9121796 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625341 M 1 1 0 SLC2A5 1 nsv5542512 1 9121445 9121445 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890064 M 3202 1 0 SLC2A5 nsv5613399 1 9121445 9121445 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068245 M 35 1 0 SLC2A5 HG00731 nsv6050477 1 9121445 9121445 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519555 M 405 1 0 SLC2A5 nsv5554514 1 9121445 9121448 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683653 M 3202 0 0 SLC2A5 nsv3325316 1 9121446 9121446 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481430,nssv14491984,nssv14491270,nssv14488767,nssv14487146,nssv14488871 M 14 6 0 SLC2A5 HG00268,HG00514,HG00733,HG02059,HG02106,NA12878 dgv97n152 1 9121446 9122135 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3170840,nsv3179983 M 9 0 0 SLC2A5 HG00514,HG00733 nsv3056445 1 9121449 9121449 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019884 M 2 1 0 SLC2A5 NA12878 nsv3194019 1 9121449 9121529 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14320635 M 9 0 1 SLC2A5 HG00513 nsv3325600 1 9121452 9121452 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490722 M 14 1 0 SLC2A5 HG04217 nsv5429965 1 9122898 9123047 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890074 M 3202 0 1 SLC2A5 nsv6549706 1 9122928 9123772 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251989 M 19652 0 0 SLC2A5 nsv4051424 1 9123549 9124053 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854697 M 10847 0 1 SLC2A5 esv3542788 1 9123690 9124098 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9741535 M 767 0 1 SLC2A5 nsv5573273 1 9123733 9124052 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068246 M 35 0 1 SLC2A5 HG02818 nsv5985023 1 9123733 9124053 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529000 M 405 0 1 SLC2A5 nsv3325601 1 9123735 9124054 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14483367 M 14 0 1 SLC2A5 NA19434 nsv4730516 1 9123738 9124057 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16264733 M 25 0 1 SLC2A5 nsv5431461 1 9123747 9124053 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890082 M 3202 0 1 SLC2A5 nsv5430480 1 9127964 9128284 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683656 M 3202 0 1 SLC2A5 nsv5985223 1 9128674 9128746 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518479 M 405 0 1 SLC2A5 nsv4046408 1 9129242 9129651 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854706 M 10847 0 1 SLC2A5 nsv5427604 1 9133844 9136930 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890084 M 3202 0 1 "" nsv6319678 1 9134122 9136930 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065089 M 19652 0 1 "" nsv5873124 1 9134123 9136899 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17399594 M 914 0 1 "" nsv4039648 1 9134123 9136930 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854717 M 10847 0 1 "" esv2674776 1 9134123 9136941 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6263075,essv5464964 M 1151 0 2 "" HG01137,NA11919 esv3585162 1 9134134 9136900 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850154,essv9850162,essv9850155,essv9850161,essv9850153,essv9850159,essv9850156,essv9850158,essv9850157,essv9850160 M 2504 0 10 "" HG00100,HG00146,HG00233,HG00265,HG01064,HG01137,HG01139,HG01412,HG01761,NA11919 nsv3944880 1 9137796 9137796 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192047 M 1 1 0 "" HG002 nsv5617441 1 9137796 9137796 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067088 M 35 1 0 "" NA24385 nsv5960515 1 9137796 9137796 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17394918 M 914 1 0 "" nsv2802338 1 9137797 9137797 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686069 M 2 1 0 "" nsv3325602 1 9137797 9137797 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482462,nssv14477258 M 14 2 0 "" CHM13,HX1 nsv4444544 1 9137802 9137802 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765602 M 1 1 0 "" nsv4755878 1 9137805 9137805 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265127 M 25 1 0 "" nsv6049525 1 9137826 9137826 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536411 M 405 1 0 "" nsv4462173 1 9138409 9138410 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024724 M 10847 1 0 "" esv3655261 1 9141320 9141320 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478939 M 20 1 0 "" nsv4463227 1 9150103 9150104 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024735 M 10847 1 0 "" nsv4463228 1 9151647 9151648 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024746 M 10847 1 0 "" nsv4462751 1 9151687 9151688 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024757 M 10847 1 0 "" nsv5676552 1 9151704 9151704 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17215789,nssv17203609 M 3202 2 0 "" nsv5401401 1 9151704 9151755 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890086 M 3202 1 0 "" nsv6333239 1 9158454 9160001 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203153 M 19652 1 0 "" nsv5830846 1 9158457 9160083 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482452 M 914 0 0 "" nsv4042059 1 9162577 9163080 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854727 M 10847 0 1 "" esv2422210 1 9166576 9274632 CNV duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP array essv5161558 M 181 1 0 GPR157,MIR34A ND01701 nsv6550675 1 9168034 9168844 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252008 M 19652 0 0 GPR157 dgv7n206 1 9169404 9181117 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nsv5415738,nsv5427282 M 3202 0 2 GPR157 esv3585164 1 9170160 9181131 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850189,essv9850191,essv9850190 M 2504 0 3 GPR157 HG02136,HG03772,HG04238 esv2675581 1 9171824 9176317 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6355094 M 1151 0 1 GPR157 NA18983 esv3585165 1 9171841 9176285 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850194,essv9850193,essv9850192 M 2504 0 3 GPR157 HG03772,HG04238,NA18983 nsv5431492 1 9171997 9176425 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890090 M 3202 0 1 GPR157 nsv6323288 1 9172054 9173139 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065113 M 19652 0 1 GPR157 nsv4044367 1 9174330 9180701 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855271 M 10847 0 1 GPR157 nsv4532715 1 9176191 9176192 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024766 M 10847 1 0 GPR157 nsv3325604 1 9176210 9176210 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483025,nssv14481286,nssv14473738,nssv14490091,nssv14473794,nssv14472147,nssv14472705,nssv14475731 M 14 8 0 GPR157 HG00268,HG01352,HG02059,HG02818,HG04217,HX1,NA12878,NA19434 nsv4751453 1 9176223 9176223 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16292461 M 25 1 0 GPR157 nsv4444591 1 9176239 9176239 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757806 M 1 1 0 GPR157 nsv5957420 1 9176239 9176239 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17400662 M 914 1 0 GPR157 nsv3538050 1 9176241 9176241 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412698 M 9 1 0 GPR157 HG00514 nsv5609883 1 9176241 9176241 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067107 M 35 1 0 GPR157 HG00731 nsv2802340 1 9176243 9176243 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681174 M 2 1 0 GPR157 nsv3325320 1 9176243 9176243 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481742,nssv14477088,nssv14479503,nssv14473626,nssv14486964,nssv14474479,nssv14474089,nssv14472343,nssv14485543,nssv14482850,nssv14473999,nssv14474394,nssv14481695,nssv14476870 M 14 14 0 GPR157 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1519481 1 9176244 9176244 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4133256 M 2 1 0 GPR157 HuRef nsv6046768 1 9176258 9176258 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536916 M 405 1 0 GPR157 nsv2802341 1 9176262 9176262 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688214 M 2 1 0 GPR157 nsv3542076 1 9176277 9176277 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412699 M 9 1 0 GPR157 HG00514 nsv3538011 1 9176296 9176296 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383906 M 9 1 0 GPR157 NA19240 nsv3542513 1 9176298 9176298 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441197 M 9 1 0 GPR157 HG00733 nsv3324863 1 9176310 9176310 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478568,nssv14474069 M 14 2 0 GPR157 HG00733,HX1 nsv3537550 1 9176340 9176340 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441198,nssv14412700 M 9 2 0 GPR157 HG00514,HG00733 nsv3538283 1 9176380 9176380 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380050 M 9 1 0 GPR157 NA19240 nsv3325321 1 9176397 9176397 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489265 M 14 1 0 GPR157 HG02106 nsv954649 1 9183217 9183398 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000464 M 1 0 1 GPR157 BILGI_BIOE nsv5431163 1 9183277 9183747 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890091 M 3202 0 1 GPR157 nsv3279739 1 9183280 9183354 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440907,nssv14413230 M 9 0 2 GPR157 HG00514,HG00733 nsv2801717 1 9183280 9183392 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13689630 M 2 0 1 GPR157 nsv3325982 1 9183280 9183392 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477351,nssv14482910,nssv14483902,nssv14485669,nssv14491165,nssv14484881,nssv14486555,nssv14477133 M 14 0 8 GPR157 CHM1,HG00268,HG00514,HG00733,HG02106,HX1,NA12878,NA19240 nsv4745183 1 9183285 9183361 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285809 M 25 0 1 GPR157 nsv5985228 1 9183298 9183429 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525469 M 405 0 1 GPR157 nsv5575711 1 9183301 9183432 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067114 M 35 0 1 GPR157 HG00731 nsv5881507 1 9183303 9183434 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17393498 M 914 0 1 GPR157 dgv98n152 1 9183369 9183453 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3204732,nsv3198234 M 9 0 6 GPR157 HG00512,HG00513,HG00514,NA19238,NA19239,NA19240 nsv4449248 1 9183369 9183453 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15767596 M 1 0 1 GPR157 nsv3282265 1 9183383 9183436 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438746,nssv14413642 M 9 0 2 GPR157 HG00514,HG00733 nsv3324864 1 9183421 9183475 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486039 M 14 0 1 GPR157 NA12878 nsv5984984 1 9183547 9183611 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530065 M 405 0 1 GPR157 nsv3325606 1 9183595 9183595 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476186 M 14 1 0 GPR157 HG00733 nsv4533391 1 9183790 9183791 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024776 M 10847 1 0 GPR157 nsv832092 1 9186568 9364602 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442674 M 95 0 1 GPR157,H6PD,MIR34A,SPSB1 nsv1077038 1 9189099 9189500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764626 M 1 0 1 GPR157 KWP1 nsv4750442 1 9189270 9189270 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16293224 M 25 1 0 "" nsv5418819 1 9189281 9189395 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890094 M 3202 1 0 "" nsv3925901 1 9189324 9189324 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192054 M 1 1 0 "" HG002 nsv4444592 1 9189324 9189324 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759111 M 1 1 0 "" nsv5624290 1 9189324 9189324 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067116 M 35 1 0 "" HG00731 nsv6060439 1 9189324 9189324 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519045 M 405 1 0 "" dgv99n152 1 9189324 9189433 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3180075,nsv3183016,nsv3171888 M 9 0 0 "" HG00514,HG00733,NA19240 nsv2802616 1 9189325 9189325 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13708564 M 2 1 0 "" nsv3325983 1 9189325 9189325 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480429,nssv14482819,nssv14480040,nssv14483681,nssv14478280,nssv14472394,nssv14483665,nssv14480441,nssv14489322,nssv14472072,nssv14477982,nssv14489231,nssv14472414,nssv14478679 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3054098 1 9189364 9189364 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020497 M 2 1 0 "" NA12878 nsv6319944 1 9192724 9195989 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065123 M 19652 0 1 "" nsv4038528 1 9197620 9203520 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855289 M 10847 0 1 "" nsv6536244 1 9198285 9198760 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252020 M 19652 0 0 "" nsv1119664 1 9202917 9202979 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982109 M 2 0 1 "" KWS1 nsv5426089 1 9204970 9205028 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890096 M 3202 1 0 "" nsv6327457 1 9213774 9214890 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065140 M 19652 0 1 "" nsv3324870 1 9213776 9214891 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481443 M 14 0 1 "" HX1 nsv4036746 1 9213803 9214890 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855299 M 10847 0 1 "" esv3585166 1 9215067 9215937 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850195 M 2504 0 1 "" NA18865 nsv5985033 1 9215264 9215594 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520417 M 405 0 1 "" nsv6325382 1 9215320 9215880 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065141 M 19652 0 1 "" nsv6138039 1 9215336 9215787 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890097 M 3202 0 1 "" nsv6055533 1 9215346 9215346 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537518 M 405 1 0 "" nsv5566714 1 9215417 9215498 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067131 M 35 0 1 "" NA19239 nsv5426572 1 9215467 9216003 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890104 M 3202 1 0 "" nsv6316911 1 9215541 9215703 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203163 M 19652 1 0 "" nsv5984987 1 9215840 9215923 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526734 M 405 0 1 "" nsv3200878 1 9219311 9231151 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14257845 M 9 0 1 "" HG00732 esv3655315 1 9221995 9221995 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16478988 M 20 1 0 "" nsv4444593 1 9230294 9230294 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765810 M 1 1 0 "" esv3385422 1 9230309 9230973 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652100 M 185 1 0 "" NA19240 esv3669317 1 9230424 9230424 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491590 M 20 1 0 "" nsv3521044 1 9230424 9230424 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377038,nssv14441200 M 9 2 0 "" HG00733,NA19240 nsv5608011 1 9230424 9230424 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066599 M 35 1 0 "" HG00731 nsv3052212 1 9230432 9230432 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14023003 M 2 1 0 "" NA12878 nsv3949758 1 9230435 9230435 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192063 M 1 1 0 "" HG002 nsv2802438 1 9230436 9230436 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13701150 M 2 1 0 "" nsv3324873 1 9230436 9230436 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14486100,nssv14491790,nssv14475289,nssv14486024,nssv14486530,nssv14481001,nssv14476232,nssv14490600,nssv14482623,nssv14489146,nssv14488638,nssv14485608 M 14 12 0 "" CHM1,CHM13,HG00268,HG00733,HG01352,HG02059,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv6043847 1 9230436 9230436 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531521 M 405 1 0 "" nsv4765887 1 9230450 9230450 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16293336 M 25 1 0 "" nsv5543758 1 9230458 9230458 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890115 M 3202 1 0 "" nsv3056829 1 9230459 9230459 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029865 M 2 1 0 "" CHM1 nsv4535396 1 9233173 9233174 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024786 M 10847 1 0 "" nsv5537213 1 9233176 9233224 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890148 M 3202 1 0 "" nsv4051031 1 9239135 9239198 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855315 M 10847 0 1 "" nsv5416258 1 9239135 9239198 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890153 M 3202 0 1 "" nsv4035617 1 9244401 9245863 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855323 M 10847 0 1 "" nsv4050888 1 9246509 9249609 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855329 M 10847 0 1 "" nsv6322183 1 9265650 9267041 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065161 M 19652 0 1 "" nsv4561851 1 9275380 9275858 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788909 M 10847 0 0 "" nsv5985126 1 9276164 9276224 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523252 M 405 0 1 "" nsv6548243 1 9276212 9276803 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252672 M 19652 0 0 "" nsv6331889 1 9276890 9277798 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065168 M 19652 0 1 "" nsv5423265 1 9278299 9279522 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890154 M 3202 0 1 "" nsv5985040 1 9278638 9279544 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536567 M 405 0 1 "" nsv1133807 1 9283561 9283633 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969378 M 2 0 1 "" KWS2 nsv1125455 1 9283580 9283677 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983629 M 2 1 0 "" KWS2 nsv5621230 1 9283642 9283642 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066612 M 35 1 0 "" HG03065 nsv5869632 1 9283642 9283692 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17391845 M 914 1 0 "" nsv3194028 1 9284966 9309217 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14252740,nssv14252739 M 9 0 2 H6PD NA19239,NA19240 nsv5582879 1 9286632 9288092 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066613 M 35 0 1 "" NA19239 nsv5420502 1 9286632 9288098 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890156 M 3202 0 1 "" nsv3178285 1 9286633 9288094 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377941 M 9 0 1 "" NA19240 nsv3324877 1 9286634 9288094 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479169 M 14 0 1 "" NA19240 nsv6333829 1 9286671 9288031 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065173 M 19652 0 1 "" nsv3200348 1 9286671 9288043 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14321115,nssv14321114 M 9 0 2 "" NA19239,NA19240 nsv6317368 1 9287509 9288072 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065174 M 19652 0 1 "" nsv5419874 1 9288074 9288570 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890157 M 3202 0 1 "" esv3585167 1 9288533 9290834 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850196 M 2504 0 1 "" NA07037 esv2677452 1 9288597 9290878 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5621555 M 1151 0 1 "" NA07037 nsv5433418 1 9288603 9290818 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890158 M 3202 0 1 "" nsv6318576 1 9288685 9290828 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065175 M 19652 0 1 "" dgv21n166 1 9290810 9410445 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4032652,nsv4044112 M 10847 2 0 H6PD,SPSB1 nsv4034646 1 9293229 9293584 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855341 M 10847 0 1 "" nsv6329183 1 9294260 9295959 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065177 M 19652 0 1 H6PD nsv1143434 1 9294800 9295200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980632 M 2 0 1 H6PD KWS1 dgv16n100 1 9297660 9411469 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002217,nsv1009956,nsv1009914,nsv999955,nsv1014684,nsv1004906,nsv1010537,nsv1013944,nsv1006294,nsv1011354 M 11257 17 0 H6PD,SPSB1 nsv1122293 1 9298112 9299955 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969744 M 2 0 1 H6PD KWS2 nsv6329612 1 9298112 9299955 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065181 M 19652 0 1 H6PD nsv4048655 1 9298114 9299955 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855357 M 10847 0 1 H6PD nsv5418118 1 9298114 9299955 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890159 M 3202 0 1 H6PD nsv4042358 1 9298399 9303345 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855367 M 10847 0 1 H6PD nsv6333661 1 9300860 9303159 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065184 M 19652 0 1 H6PD nsv4043682 1 9300901 9303039 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855376 M 10847 0 1 H6PD nsv6327680 1 9303268 9303941 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065186 M 19652 0 1 H6PD dgv12e212 1 9303743 9404967 CNV gain Uddin_et_al_2014 25503493 SNP array esv3570119,esv3571230,esv3573452,esv3575249,esv3574563,esv3572341 M 873 7 0 H6PD,SPSB1 400059SV,400083TG,400650RM,401235IA,401258PC,401380OL,401443JK esv2763409 1 9308037 9405017 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7032523,essv7032412,essv7031856,essv7032078,essv7032189,essv7031745,essv7031967,essv7032634,essv7032301 M 1109 9 0 H6PD,SPSB1 SW_0009,SW_0072,SW_0189,SW_0199,SW_0641,SW_1193,SW_1358,SW_1467,SW_1503 dgv96n54 1 9309746 9387444 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545359,nsv545352,nsv545351,nsv545348,nsv545358 M 17421 9 0 H6PD,SPSB1 1780854392_A dgv97n54 1 9309746 9412787 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545361,nsv545353,nsv545354,nsv545349,nsv545355,nsv545356,nsv545357,nsv545360 M 17421 12 0 H6PD,SPSB1 1780854556_A,1780862066_A,1780862577_A,HGDP00136 esv2743563 1 9310369 9310494 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6718159 M 96 0 1 H6PD SSM044 nsv4743377 1 9310419 9310495 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16265509 M 25 0 1 H6PD nsv5610323 1 9310441 9310441 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066615 M 35 1 0 H6PD HG03732 nsv4563147 1 9312625 9312626 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024795 M 10847 1 0 H6PD nsv5693983 1 9313853 9313853 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203610,nssv17221069 M 3202 2 0 H6PD nsv5397468 1 9313853 9313904 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890198 M 3202 1 0 H6PD dgv2e55 1 9315847 9404693 CNV gain Pinto_et_al_2007 17911159 SNP array esv2750844,esv2750843,esv2750846 M 771 9 0 H6PD,SPSB1 BEC_287,BEC_670,SPC_192 esv23318 1 9317806 9321226 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16429 M 40 0 1 H6PD NA12749 dgv40e59 1 9317965 9321063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3446798,esv3394437,esv3335318 M 185 3 0 H6PD NA19238,NA19239,NA19240 nsv1075364 1 9318099 9320800 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3770936 M 1 1 0 H6PD KWP1 nsv1147163 1 9318099 9320800 CNV duplication John_et_al_2014 26484159 Sequencing nssv3998525 M 1 1 0 H6PD KWB1 nsv1128586 1 9318300 9320800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960497 M 2 1 0 H6PD KWS1 nsv6334715 1 9318360 9329159 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065195 M 19652 0 1 H6PD nsv545350 1 9318401 9366852 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709657 M 17421 1 0 H6PD,SPSB1 dgv3n27 1 9318401 9412408 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv463061,nsv463950,nsv463172,nsv462839,nsv462950 M 1557 5 0 H6PD,SPSB1 1780854392_A,1780854556_A,1780862066_A,1780862577_A,HGDP00136 nsv4535818 1 9318617 9318618 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024806 M 10847 1 0 H6PD nsv5611845 1 9318778 9318778 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17066616 M 35 1 0 H6PD NA19239 nsv3209299 1 9318778 9318853 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14320552 M 9 1 0 H6PD NA19239 nsv3325993 1 9318779 9318779 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480119 M 14 1 0 H6PD NA19240 nsv3181934 1 9318839 9318914 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380157 M 9 0 0 H6PD NA19240 nsv1139468 1 9319200 9321000 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977055 M 2 1 0 H6PD KWS2 dgv8n206 1 9319227 9411954 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nsv5418877,nsv5424071 M 3202 2 0 H6PD,SPSB1 nsv5878820 1 9319257 9404056 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17395652 M 914 1 0 H6PD,SPSB1 nsv6330408 1 9319257 9404057 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203173 M 19652 1 0 H6PD,SPSB1 nsv5831036 1 9319293 9331229 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481596 M 914 0 0 H6PD nsv5985042 1 9319757 9319951 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536834 M 405 0 1 H6PD nsv5873893 1 9319772 9320403 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17393794 M 914 0 1 H6PD nsv5414248 1 9319880 9320455 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890201 M 3202 0 1 H6PD nsv5419013 1 9319881 9319976 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890211 M 3202 0 1 H6PD nsv5879185 1 9319950 9320002 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17400062 M 914 0 1 H6PD esv3585168 1 9320144 9403779 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850198,essv9850201,essv9850199,essv9850197,essv9850200,essv9850203,essv9850202,essv9850204,essv9850205 M 2504 9 0 H6PD,SPSB1 HG00257,HG01707,HG03941,HG04188,NA18544,NA20588,NA20815,NA20858,NA20896 nsv5872353 1 9320275 9320346 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17403011 M 914 0 1 H6PD nsv6326314 1 9320275 9320347 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065196 M 19652 0 1 H6PD nsv520191 1 9321241 9396660 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv688630,nssv662674,nssv687341,nssv696393,nssv661584 M 2026 5 0 H6PD,SPSB1 dgv13e212 1 9326599 9399793 CNV gain Uddin_et_al_2014 25503493 SNP array esv3575360,esv3575471 M 873 2 0 H6PD,SPSB1 400155CW,400323AA nsv6323022 1 9326612 9444459 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203174 M 19652 1 0 H6PD,SPSB1 dgv17n100 1 9326646 9410245 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002706,nsv1002792,nsv1002787,nsv1013520,nsv1001425,nsv1006562,nsv1003940,nsv1012017,nsv1004173,nsv1007996,nsv999816 M 11257 39 0 H6PD,SPSB1 esv2750845 1 9327413 9389218 CNV gain Pinto_et_al_2007 17911159 SNP array essv6980777,essv6985406 M 771 2 0 H6PD,SPSB1 BEC_149 esv3577722 1 9334714 9354974 CNV loss Uddin_et_al_2014 25503493 SNP array essv9794199 M 873 0 1 SPSB1 401056TJ nsv5830812 1 9335657 9386309 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482471 M 914 0 0 SPSB1 nsv4044765 1 9337812 9341870 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854408 M 10847 0 1 "" nsv5425658 1 9337812 9341870 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890227 M 3202 0 1 "" nsv6327497 1 9337812 9341870 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065211 M 19652 0 1 "" nsv4444594 1 9342497 9342497 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761807 M 1 1 0 "" nsv4753121 1 9342507 9342507 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16269344 M 25 1 0 "" nsv3534786 1 9342573 9342573 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441201,nssv14387223,nssv14412702 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3930402 1 9342573 9342573 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192068 M 1 1 0 "" HG002 nsv5620526 1 9342573 9342573 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067314 M 35 1 0 "" HG00731 nsv5963699 1 9342573 9342573 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17394773 M 914 1 0 "" nsv2801722 1 9342574 9342574 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13708583 M 2 1 0 "" nsv3325994 1 9342574 9342574 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488185,nssv14480804,nssv14486765,nssv14476064,nssv14474992,nssv14485857,nssv14475008,nssv14480461,nssv14486764,nssv14486073,nssv14482871,nssv14485104,nssv14490750 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv6049009 1 9342575 9342575 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518911 M 405 1 0 "" nsv6254033 1 9344022 9344022 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17854898 M 1021 1 0 "" nsv5985129 1 9351522 9351604 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532604 M 405 0 1 "" nsv4044077 1 9351531 9351584 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854417 M 10847 0 1 "" esv2743574 1 9358411 9358475 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6668937 M 96 0 1 SPSB1 SSM031 esv2743586 1 9358438 9358566 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6793274 M 96 0 1 SPSB1 SSM071 nsv4463244 1 9368713 9368714 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024817 M 10847 1 0 SPSB1 nsv5691138 1 9368729 9368729 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17229908,nssv17203612 M 3202 2 0 SPSB1 nsv5406579 1 9368729 9368780 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890230 M 3202 1 0 SPSB1 esv2201511 1 9369979 9370402 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4737746 M 1 0 1 SPSB1 NA18507 nsv3184347 1 9370127 9370179 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440535,nssv14389819 M 9 0 0 SPSB1 HG00733,NA19240 esv1000068 1 9370131 9370131 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3571220 M 3 1 0 SPSB1 HuRef nsv5617188 1 9370132 9370132 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067334 M 35 1 0 SPSB1 HG00731 nsv5570801 1 9370132 9370185 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067333 M 35 0 1 SPSB1 HG00731 nsv5873602 1 9370132 9370185 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17408942 M 914 0 1 SPSB1 nsv3952936 1 9370132 9370186 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181509 M 1 0 1 SPSB1 HG002 nsv4449018 1 9370132 9370186 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15766952 M 1 0 1 SPSB1 nsv3325996 1 9370133 9370133 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479759,nssv14488639,nssv14473550,nssv14479372,nssv14474575 M 14 5 0 SPSB1 HG00268,HG02106,HG02818,HG04217,NA19240 nsv3325995 1 9370133 9370186 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476313 M 14 0 1 SPSB1 HG00733 nsv5985046 1 9370158 9370214 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519273 M 405 0 1 SPSB1 nsv6046340 1 9370189 9370189 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518636 M 405 1 0 SPSB1 nsv4754854 1 9370222 9370222 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16261597 M 25 1 0 SPSB1 nsv3064166 1 9370226 9370226 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017110 M 2 1 0 SPSB1 NA12878 dgv100n152 1 9370229 9370286 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3173812,nsv3170695 M 9 0 0 SPSB1 HG00733,NA19240 nsv3326250 1 9370234 9370234 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478819,nssv14487632 M 14 2 0 SPSB1 HG01352,NA19434 nsv464172 1 9377864 9413646 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv540129 M 1557 0 1 SPSB1 1780854065_A nsv545362 1 9377864 9413646 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173664 M 17421 0 1 SPSB1 1780854065_A nsv4314753 1 9381909 9383517 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788920 M 10847 0 0 SPSB1 nsv4535217 1 9399559 9399560 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023656 M 10847 1 0 SPSB1 esv3585169 1 9403667 9411371 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850206 M 2504 1 0 SPSB1 NA18544 nsv6316896 1 9422774 9423512 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065578 M 19652 0 1 SPSB1 nsv6319491 1 9425109 9426826 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065579 M 19652 0 1 SPSB1 nsv4044648 1 9425150 9426817 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854426 M 10847 0 1 SPSB1 nsv5578415 1 9426280 9426353 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068253 M 35 0 1 SPSB1 HG02011 nsv5420857 1 9426288 9426354 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890233 M 3202 0 1 SPSB1 nsv827253 1 9431355 9432029 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431791 M 31 0 1 "" AK20 nsv4043277 1 9437557 9438766 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854436 M 10847 0 1 "" nsv6320661 1 9438756 9702668 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203187 M 19652 1 0 LOC100506022,SLC25A33,TMEM201 esv2616653 1 9439330 9441001 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5231075 M 1 0 1 "" NA18507 nsv4462192 1 9439826 9439827 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023665 M 10847 1 0 "" esv2203424 1 9439900 9440552 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4643328 M 1 0 1 "" NA18507 esv2671551 1 9439964 9440516 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6215876,essv6383000,essv6081254,essv5835426,essv5886599,essv5920208,essv6584703,essv6064542,essv6192437,essv5936819,essv5675200,essv5565537,essv6306689,essv6387779,essv5803169,essv6360424,essv5769749,essv6217017,essv6310252,essv5617422 M 1151 0 20 "" HG00638,HG00731,HG01342,HG01551,NA18504,NA18516,NA18871,NA19099,NA19172,NA19350,NA19379,NA19391,NA19396,NA19397,NA19399,NA19448,NA19472,NA19625,NA19684,NA20334 nsv3526038 1 9440031 9440401 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14320014,nssv14320015,nssv14320012,nssv14320013 M 9 0 4 "" HG00731,HG00733,NA19239,NA19240 nsv3326258 1 9440035 9440246 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14487960,nssv14475254,nssv14479490 M 14 0 3 "" HG00733,HG02818,NA19240 nsv3185448 1 9440035 9440400 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440981,nssv14382367 M 9 0 2 "" HG00733,NA19240 nsv5580835 1 9440035 9440401 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067143 M 35 0 1 "" HG00731 nsv5884167 1 9440035 9440401 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17397086 M 914 0 1 "" nsv4050511 1 9440036 9440402 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854454 M 10847 0 1 "" nsv5419253 1 9440036 9440402 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890234 M 3202 0 1 "" nsv6325102 1 9440097 9440835 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065584 M 19652 0 1 "" nsv4517171 1 9440154 9440393 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854464 M 10847 0 1 "" nsv5959597 1 9440278 9440278 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17391431 M 914 1 0 "" nsv5609599 1 9440299 9440299 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067144,nssv17067145 M 35 2 0 "" HG03371,NA19983 nsv3325347 1 9440313 9440313 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484445 M 14 1 0 "" HG00268 nsv6042639 1 9440314 9440314 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531782 M 405 1 0 "" nsv3324890 1 9440419 9440419 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482765 M 14 1 0 "" NA19240 nsv3541584 1 9440420 9440420 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390099 M 9 1 0 "" NA19240 nsv5610623 1 9440420 9440420 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067146 M 35 1 0 "" NA19238 nsv1013224 1 9441040 9699768 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3474728 M 11257 1 0 LOC100506022,SLC25A33,TMEM201 nsv6332893 1 9441635 9442708 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065585 M 19652 0 1 "" nsv4043921 1 9441640 9442708 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854472 M 10847 0 1 "" nsv5419224 1 9441640 9442708 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890236 M 3202 0 1 "" nsv4036238 1 9443316 9444557 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854482 M 10847 0 1 "" esv3585170 1 9452693 9454546 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850207 M 2504 0 1 "" HG03199 nsv6323987 1 9452710 9454525 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065593 M 19652 0 1 "" nsv4048338 1 9452717 9454525 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854492 M 10847 0 1 "" nsv5417298 1 9452717 9454525 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890237 M 3202 0 1 "" nsv4041218 1 9453488 9461503 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965377 M 10847 1 0 "" nsv3211633 1 9453780 9473539 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260401,nssv14260404,nssv14260402,nssv14260403,nssv14260398,nssv14260405,nssv14260399,nssv14260400,nssv14260397 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv2661068 1 9453863 9456551 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6347520 M 1151 0 1 "" NA18530 esv3585171 1 9453882 9456588 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850208 M 2504 0 1 "" NA18530 nsv4745705 1 9453887 9456541 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16295318 M 25 0 1 "" nsv5985051 1 9453891 9456543 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532268 M 405 0 1 "" nsv6332945 1 9453891 9456543 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065598 M 19652 0 1 "" nsv4044899 1 9453893 9456543 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854503 M 10847 0 1 "" nsv5423708 1 9453893 9456543 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890238 M 3202 0 1 "" nsv4036601 1 9457067 9519835 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965378 M 10847 1 0 LOC100506022 nsv6335314 1 9457067 9519910 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203190 M 19652 1 0 LOC100506022 nsv4045377 1 9461459 9462654 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854514 M 10847 0 1 "" esv3655369 1 9467159 9467159 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479036 M 20 1 0 "" nsv6137992 1 9470244 9471608 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890239 M 3202 1 0 "" nsv4051584 1 9470248 9471603 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965379 M 10847 1 0 "" nsv5872977 1 9470254 9471587 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17393573 M 914 1 0 "" esv2443842 1 9470413 9471232 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5170213 M 1 1 0 "" NA18507 esv3367825 1 9471160 9472583 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652101 M 185 1 0 "" NA19240 nsv4760237 1 9471164 9471164 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16276500 M 25 1 0 "" nsv5426345 1 9471167 9471365 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890240 M 3202 1 0 "" nsv5985053 1 9471167 9471365 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17524719 M 405 1 0 "" nsv3538824 1 9471168 9471168 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384012,nssv14441203 M 9 2 0 "" HG00733,NA19240 nsv3204674 1 9471168 9471360 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14321593,nssv14321592,nssv14321594,nssv14321591 M 9 4 0 "" HG00731,HG00733,NA19239,NA19240 esv3688808 1 9471240 9471343 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16473004 M 20 0 0 "" nsv5606192 1 9471266 9471266 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067153 M 35 1 0 "" NA19983 nsv3326009 1 9471336 9471336 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479930 M 14 1 0 "" HG02106 nsv3540690 1 9471352 9471352 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441204,nssv14412703,nssv14374958 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3949554 1 9471352 9471352 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192082,nssv15192085 M 1 1 0 "" HG002 nsv5612878 1 9471352 9471352 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067154 M 35 1 0 "" HG00731 nsv6049570 1 9471352 9471352 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518643 M 405 1 0 "" nsv2802444 1 9471353 9471353 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677046,nssv13689467 M 2 2 0 "" nsv3326010 1 9471353 9471353 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482854,nssv14491631,nssv14474396,nssv14478344,nssv14477953,nssv14475584,nssv14477155,nssv14484116,nssv14476758,nssv14472823,nssv14487484,nssv14479940,nssv14477003 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3064167 1 9471356 9471356 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14037810 M 2 1 0 "" NA12878 nsv6322802 1 9471491 9471787 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065604 M 19652 0 1 "" nsv4046286 1 9472450 9472556 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854524 M 10847 0 1 "" nsv6545762 1 9474913 9475371 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252768 M 19652 0 0 "" nsv1113074 1 9475678 9475734 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967964 M 2 0 1 "" KWS2 nsv6333604 1 9475775 9487188 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065607 M 19652 0 1 LOC100506022 nsv4038538 1 9479550 9487231 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854532 M 10847 0 1 LOC100506022 nsv4044123 1 9492398 9494097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854542 M 10847 0 1 "" nsv5693374 1 9494635 9494635 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17218237 M 3202 1 0 "" nsv5404068 1 9494635 9494686 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890242 M 3202 1 0 "" nsv545363 1 9495571 9677853 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709671 M 17421 0 1 SLC25A33,TMEM201 esv3585172 1 9495904 9497610 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850209 M 2504 0 1 "" NA12763 esv2667953 1 9495942 9497542 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5632014 M 1151 0 1 "" NA12763 nsv4042908 1 9495979 9497514 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854921 M 10847 0 1 "" nsv5416587 1 9495979 9497514 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890243 M 3202 0 1 "" esv3585173 1 9499638 9503787 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850210,essv9850211 M 2504 0 2 "" HG00182,HG02150 nsv5424453 1 9499653 9503798 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890244 M 3202 0 1 "" nsv6325342 1 9499653 9503798 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065629 M 19652 0 1 "" nsv6325315 1 9506338 9508814 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065631 M 19652 0 1 "" nsv517755 1 9514846 9539693 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv674995,nssv658552,nssv693425,nssv692200,nssv653129,nssv661666,nssv670279 M 2026 0 7 "" esv3585174 1 9517431 9520277 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850212 M 2504 0 1 "" HG01847 nsv5421767 1 9517461 9520304 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890245 M 3202 0 1 "" nsv5426501 1 9521248 9523815 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890246 M 3202 0 1 "" nsv6548156 1 9521577 9522388 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253947 M 19652 0 0 "" nsv6553131 1 9523581 9523888 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253949 M 19652 0 0 "" nsv6315974 1 9524381 9531858 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065640 M 19652 0 1 "" nsv6325992 1 9524419 9525419 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065641 M 19652 0 1 "" nsv4034145 1 9529681 9614731 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854930 M 10847 0 1 SLC25A33 nsv4043979 1 9530181 9530283 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965380 M 10847 1 0 "" nsv5604728 1 9530205 9530205 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067160 M 35 1 0 "" NA18939 nsv4035093 1 9534922 9538913 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965381 M 10847 1 0 "" nsv6327382 1 9534922 9538913 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203196 M 19652 1 0 "" nsv5416000 1 9534922 9538935 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890247 M 3202 1 0 "" esv3379170 1 9536765 9538563 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692431 M 185 1 0 "" NA19239 dgv41e59 1 9537465 9538563 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3423918,esv3382125 M 185 2 0 "" NA19238,NA19240 esv2743597 1 9538089 9538516 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6828993 M 96 0 1 "" SSM081 nsv5878991 1 9538249 9538321 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17407748 M 914 0 1 "" nsv6323212 1 9544260 9568859 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066071 M 19652 0 1 "" nsv4048537 1 9544637 9544749 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854939 M 10847 0 1 "" nsv5432606 1 9544637 9544749 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890258 M 3202 0 1 "" esv3655497 1 9547420 9547420 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479151 M 20 1 0 "" nsv4040855 1 9547510 9550002 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854945 M 10847 0 1 "" nsv5430276 1 9547981 9548037 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890269 M 3202 0 1 "" nsv6319350 1 9551460 9553859 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066075 M 19652 0 1 "" nsv6329148 1 9552631 9583454 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203200 M 19652 1 0 "" nsv6332681 1 9553107 9553428 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066076 M 19652 0 1 "" nsv6334564 1 9554244 9554659 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066078 M 19652 0 1 "" nsv4517857 1 9554245 9554664 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854955 M 10847 0 1 "" nsv4039893 1 9554500 9583500 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965382 M 10847 1 0 "" nsv6330781 1 9562060 9566959 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066086 M 19652 0 1 "" esv3655561 1 9562828 9562828 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479209 M 20 1 0 "" nsv5885230 1 9564043 9573838 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17405760 M 914 1 0 "" nsv6321335 1 9564043 9573839 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202101 M 19652 1 0 "" nsv4049284 1 9564043 9573841 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965383 M 10847 1 0 "" nsv5830547 1 9564639 9567988 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482491 M 914 0 0 "" nsv4046571 1 9566807 9567956 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854965 M 10847 0 1 "" nsv6545922 1 9566936 9567430 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253961 M 19652 0 0 "" nsv6317837 1 9568675 9577085 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066092 M 19652 0 1 "" nsv6323199 1 9568958 9572011 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066093 M 19652 0 1 "" nsv6335134 1 9571002 9573812 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066094 M 19652 0 1 "" nsv4045440 1 9571003 9573812 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854976 M 10847 0 1 "" esv3655624 1 9571183 9571183 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479266 M 20 1 0 "" nsv6329689 1 9571981 9576967 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202103 M 19652 1 0 "" nsv4042704 1 9572000 9577000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965384 M 10847 1 0 "" nsv6324025 1 9572231 9577019 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066096 M 19652 0 1 "" nsv5399148 1 9572368 9572368 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890291 M 3202 1 0 "" nsv5611246 1 9572368 9572368 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067170 M 35 1 0 "" HG00171 nsv5953883 1 9572368 9572368 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17398779 M 914 1 0 "" nsv6046704 1 9572368 9572368 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536580 M 405 1 0 "" nsv4533313 1 9572368 9572369 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023687 M 10847 1 0 "" nsv3326261 1 9572369 9572369 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14477253 M 14 1 0 "" HX1 nsv4754061 1 9572374 9572374 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16289028 M 25 1 0 "" nsv5684846 1 9572383 9572383 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17227323,nssv17203613 M 3202 2 0 "" nsv6254144 1 9572383 9572383 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17855691 M 1021 1 0 "" nsv4032780 1 9573948 9579645 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15854986 M 10847 0 1 "" nsv6333709 1 9574158 9579651 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066097 M 19652 0 1 "" nsv6321276 1 9575482 9586579 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202104 M 19652 1 0 "" nsv6329397 1 9578986 9582384 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066099 M 19652 0 1 "" nsv5875278 1 9579088 9582381 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17404754 M 914 0 1 "" dgv5e214 1 9579119 9583367 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585176,esv3585177 M 2504 0 4 "" HG00259,HG01464,NA12872,NA20814 nsv5415139 1 9579122 9582434 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890313 M 3202 0 1 "" nsv4043684 1 9579154 9582341 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855002 M 10847 0 1 "" nsv5830550 1 9579251 9581700 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481601 M 914 0 0 "" esv3682050 1 9579474 9579526 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16503050 M 20 0 1 "" nsv4751013 1 9579570 9579570 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16279389 M 25 1 0 "" esv3585178 1 9579979 9583367 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850267 M 2504 1 0 "" HG03559 nsv4050346 1 9583629 9584525 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855011 M 10847 0 1 "" esv3577723 1 9593041 9602360 CNV loss Uddin_et_al_2014 25503493 SNP array essv9795310,essv9794533,essv9795421,essv9794644,essv9795088,essv9794422,essv9794866,essv9794755,essv9795199,essv9794310,essv9794977 M 873 0 11 SLC25A33 400079AP,400323AA,400425SL,400712GC,400724CD,400773GS,400859SC,400987FB,401266HM,401353BC,401852SK esv2476310 1 9593578 9600139 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5297378 M 1 0 1 SLC25A33 NA18507 esv2670448 1 9593845 9597892 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6590645,essv6479954,essv5675858,essv6150008,essv6352603,essv6316201,essv5860346,essv5969464,essv6060563,essv6577990,essv6094129,essv5533540,essv6592655,essv5539365,essv5899867,essv5805037,essv5542328,essv6578697,essv6455016,essv5413732,essv6074107,essv6119124,essv6529781,essv6075149,essv6388632,essv5883044,essv5724018,essv5556714,essv6304955,essv5924076,essv6300000,essv5721976,essv5559191,essv5643099,essv5959669,essv5863264,essv6291603,essv5925442,essv6291725 M 1151 0 39 "" NA19313,NA19316,NA19318,NA19319,NA19331,NA19334,NA19347,NA19355,NA19371,NA19372,NA19375,NA19376,NA19382,NA19383,NA19385,NA19391,NA19393,NA19395,NA19404,NA19429,NA19430,NA19431,NA19434,NA19436,NA19438,NA19443,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19463,NA19466,NA19467,NA19468,NA19470,NA19471,NA19473 dgv101n152 1 9594820 9597666 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3200173,nsv3201512 M 9 0 2 "" NA19238,NA19239 esv2577357 1 9594904 9598296 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5368321 M 1 0 1 "" NA18507 esv3585179 1 9595360 9597869 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9850913,essv9850861,essv9850969,essv9850836,essv9851038,essv9850788,essv9850925,essv9850771,essv9850995,essv9850870,essv9850992,essv9850809,essv9850984,essv9850805,essv9850953,essv9850821,essv9850923,essv9850776,essv9850981,essv9850868,essv9850936,essv9850863,essv9851029,essv9850760,essv9850880,essv9850793,essv9851005,essv9850790,essv9851022,essv9850784,essv9850952,essv9850803,essv9850920,essv9850819,essv9850955,essv9850796,essv9850980,essv9850786,essv9851063,essv9850827,essv9851034,essv9850798,essv9851067,essv9850810,essv9851015,essv9850845,essv9850977,essv9850826,essv9850896,essv9850850,essv9851023,essv9850833,essv9850885,essv9850767,essv9851061,essv9850785,essv9850911,essv9850794,essv9850987,essv9850840,essv9850917,essv9850858,essv9851011,essv9850856,essv9851000,essv9850783,essv9851012,essv9850855,essv9851047,essv9850777,essv9850979,essv9850862,essv9850949,essv9850867,essv9850891,essv9850835,essv9850963,essv9850849,essv9850985,essv9850768,essv9851018,essv9850851,essv9851026,essv9850769,essv9850872,essv9850802,essv9850906,essv9850824,essv9851053,essv9850811,essv9851039,essv9850844,essv9850924,essv9850864,essv9850959,essv9850779,essv9851055,essv9850854,essv9850948,essv9850782,essv9850960,essv9850813,essv9850944,essv9850834,essv9850983,essv9850791,essv9850938,essv9850866,essv9850929,essv9850762,essv9850889,essv9850865,essv9851068,essv9850775,essv9850893,essv9850812,essv9850904,essv9850800,essv9851031,essv9850763,essv9850898,essv9850869,essv9850940,essv9850795,essv9850976,essv9850765,essv9850902,essv9850820,essv9851003,essv9850770,essv9850970,essv9850804,essv9851045,essv9850764,essv9851057,essv9850848,essv9851037,essv9850789,essv9850899,essv9850841,essv9850926,essv9850814,essv9850946,essv9850780,essv9850916,essv9850781,essv9851001,essv9850815,essv9850932,essv9850829,essv9851002,essv9850817,essv9850933,essv9850839,essv9850941,essv9850761,essv9850921,essv9850831,essv9850937,essv9850774,essv9851054,essv9850773,essv9850997,essv9850832,essv9851059,essv9850853,essv9851032,essv9850847,essv9851041,essv9850860,essv9850877,essv9850808,essv9851016,essv9850842,essv9850910,essv9850838,essv9850972,essv9850799,essv9851009,essv9850806,essv9850907,essv9850801,essv9850961,essv9850857,essv9850993,essv9850807,essv9851013,essv9850825,essv9850990,essv9850766,essv9850908,essv9850859,essv9851040,essv9850787,essv9851050,essv9850797,essv9850887,essv9850778,essv9850874,essv9850816,essv9850884,essv9850837,essv9850998,essv9850818,essv9850988,essv9850846,essv9850930,essv9850792,essv9851035,essv9850772,essv9850957,essv9850843,essv9850905,essv9850828,essv9850878,essv9850852,essv9850927,essv9850830,essv9851062,essv9850822,essv9850918,essv9850823,essv9851010,essv9850324,essv9850370,essv9850999,essv9850319,essv9850341,essv9850994,essv9850278,essv9850361,essv9851058,essv9850317,essv9850430,essv9851048,essv9850318,essv9850385,essv9850879,essv9850322,essv9850340,essv9850894,essv9850312,essv9850362,essv9851021,essv9850323,essv9850380,essv9850909,essv9850311,essv9850428,essv9850962,essv9850279,essv9850356,essv9850973,essv9850326,essv9850397,essv9850982,essv9850307,essv9850388,essv9850978,essv9850309,essv9850413,essv9851006,essv9850280,essv9850375,essv9850965,essv9850308,essv9850332,essv9850974,essv9850281,essv9850336,essv9850967,essv9850321,essv9850364,essv9850873,essv9850282,essv9850349,essv9851065,essv9850283,essv9850419,essv9850968,essv9850284,essv9850412,essv9850919,essv9850310,essv9850411,essv9851004,essv9850313,essv9850410,essv9850991,essv9850329,essv9850420,essv9850971,essv9850320,essv9850371,essv9850943,essv9850285,essv9850374,essv9851060,essv9850286,essv9850347,essv9851028,essv9850328,essv9850366,essv9851044,essv9850287,essv9850421,essv9851069,essv9850268,essv9850396,essv9850935,essv9850330,essv9850334,essv9850895,essv9850305,essv9850346,essv9850882,essv9850269,essv9850434,essv9850928,essv9850288,essv9850394,essv9851024,essv9850316,essv9850403,essv9850939,essv9850325,essv9850369,essv9850883,essv9850304,essv9850368,essv9850871,essv9850315,essv9850353,essv9851064,essv9850306,essv9850348,essv9850975,essv9850270,essv9850384,essv9851019,essv9850289,essv9850383,essv9850954,essv9850271,essv9850367,essv9850876,essv9850290,essv9850338,essv9851046,essv9850272,essv9850386,essv9851008,essv9850291,essv9850409,essv9851056,essv9850327,essv9850344,essv9850888,essv9850292,essv9850373,essv9851030,essv9850293,essv9850433,essv9850901,essv9850294,essv9850360,essv9850912,essv9850295,essv9850395,essv9850951,essv9850296,essv9850354,essv9850915,essv9850273,essv9850351,essv9851042,essv9850274,essv9850379,essv9850989,essv9850314,essv9850436,essv9851052,essv9850275,essv9850350,essv9850914,essv9850297,essv9850435,essv9850945,essv9850298,essv9850381,essv9850875,essv9850276,essv9850424,essv9850986,essv9850299,essv9850404,essv9851066,essv9850300,essv9850387,essv9850958,essv9850301,essv9850345,essv9850897,essv9850277,essv9850426,essv9850886,essv9850331,essv9850437,essv9850900,essv9850302,essv9850377,essv9851014,essv9850303,essv9850398,essv9850942,essv9850408,essv9850890,essv9850418,essv9851043,essv9850376,essv9851027,essv9850422,essv9850966,essv9850363,essv9851025,essv9850389,essv9850922,essv9850391,essv9851017,essv9850392,essv9850881,essv9850417,essv9851020,essv9850438,essv9850934,essv9850357,essv9850956,essv9850425,essv9851033,essv9850427,essv9851051,essv9850333,essv9851036,essv9850399,essv9850903,essv9850414,essv9851049,essv9850365,essv9850892,essv9850339,essv9850964,essv9850416,essv9851007,essv9850402,essv9850931,essv9850343,essv9850947,essv9850337,essv9850950,essv9850415,essv9850996,essv9850382,essv9851108,essv9850390,essv9851070,essv9850378,essv9851161,essv9850401,essv9851154,essv9850359,essv9851096,essv9850407,essv9851080,essv9850429,essv9851125,essv9850405,essv9851143,essv9850342,essv9851115,essv9850431,essv9851135,essv9850432,essv9851112,essv9850423,essv9851215,essv9850355,essv9851190,essv9850393,essv9851130,essv9850358,essv9851072,essv9850335,essv9851129,essv9850406,essv9851107,essv9850352,essv9851200,essv9850372,essv9851097,essv9850400,essv9851078,essv9850567,essv9851204,essv9850482,essv9851073,essv9850513,essv9851185,essv9850566,essv9851124,essv9850508,essv9851180,essv9850523,essv9851182,essv9850590,essv9851141,essv9850536,essv9851144,essv9850493,essv9851099,essv9850570,essv9851214,essv9850585,essv9851145,essv9850514,essv9851132,essv9850575,essv9851162,essv9850443,essv9851157,essv9850456,essv9851083,essv9850601,essv9851172,essv9850596,essv9851201,essv9850477,essv9851193,essv9850568,essv9851206,essv9850461,essv9851221,essv9850546,essv9851089,essv9850579,essv9851105,essv9850471,essv9851222,essv9850494,essv9851188,essv9850530,essv9851086,essv9850501,essv9851076,essv9850599,essv9851176,essv9850453,essv9851173,essv9850584,essv9851131,essv9850440,essv9851156,essv9850459,essv9851202,essv9850522,essv9851178,essv9850562,essv9851220,essv9850541,essv9851123,essv9850496,essv9851133,essv9850489,essv9851152,essv9850486,essv9851171,essv9850577,essv9851074,essv9850540,essv9851218,essv9850506,essv9851111,essv9850548,essv9851077,essv9850531,essv9851163,essv9850481,essv9851191,essv9850556,essv9851213,essv9850544,essv9851196,essv9850528,essv9851117,essv9850449,essv9851139,essv9850451,essv9851189,essv9850571,essv9851106,essv9850517,essv9851195,essv9850487,essv9851177,essv9850510,essv9851101,essv9850588,essv9851167,essv9850464,essv9851169,essv9850491,essv9851084,essv9850526,essv9851126,essv9850581,essv9851211,essv9850485,essv9851095,essv9850499,essv9851148,essv9850552,essv9851197,essv9850498,essv9851186,essv9850483,essv9851181,essv9850457,essv9851166,essv9850533,essv9851146,essv9850583,essv9851150,essv9850469,essv9851194,essv9850503,essv9851127,essv9850576,essv9851102,essv9850550,essv9851207,essv9850444,essv9851075,essv9850573,essv9851113,essv9850545,essv9851208,essv9850564,essv9851128,essv9850605,essv9851081,essv9850535,essv9851217,essv9850454,essv9851093,essv9850479,essv9851103,essv9850462,essv9851098,essv9850470,essv9851122,essv9850475,essv9851094,essv9850604,essv9851140,essv9850452,essv9851138,essv9850468,essv9851165,essv9850502,essv9851155,essv9850446,essv9851134,essv9850484,essv9851088,essv9850466,essv9851116,essv9850561,essv9851153,essv9850594,essv9851121,essv9850593,essv9851119,essv9850559,essv9851079,essv9850551,essv9851192,essv9850592,essv9851118,essv9850520,essv9851199,essv9850480,essv9851212,essv9850525,essv9851158,essv9850558,essv9851187,essv9850527,essv9851109,essv9850602,essv9851205,essv9850565,essv9851160,essv9850521,essv9851120,essv9850447,essv9851082,essv9850460,essv9851159,essv9850467,essv9851137,essv9850458,essv9851183,essv9850600,essv9851071,essv9850569,essv9851090,essv9850476,essv9851149,essv9850478,essv9851110,essv9850472,essv9851216,essv9850603,essv9851104,essv9850554,essv9851136,essv9850455,essv9851179,essv9850547,essv9851100,essv9850538,essv9851091,essv9850549,essv9851175,essv9850518,essv9851142,essv9850582,essv9851184,essv9850512,essv9851087,essv9850574,essv9851174,essv9850606,essv9851114,essv9850505,essv9851085,essv9850591,essv9851219,essv9850542,essv9851147,essv9850509,essv9851168,essv9850507,essv9851210,essv9850555,essv9851092,essv9850445,essv9851170,essv9850515,essv9851198,essv9850441,essv9851151,essv9850474,essv9851203,essv9850543,essv9851209,essv9850537,essv9851164,essv9850532,essv9850731,essv9850557,essv9850675,essv9850578,essv9850633,essv9850524,essv9850690,essv9850586,essv9850665,essv9850439,essv9850642,essv9850597,essv9850692,essv9850553,essv9850705,essv9850450,essv9850680,essv9850511,essv9850715,essv9850539,essv9850678,essv9850572,essv9850702,essv9850463,essv9850724,essv9850492,essv9850651,essv9850534,essv9850674,essv9850595,essv9850749,essv9850589,essv9850612,essv9850488,essv9850723,essv9850598,essv9850677,essv9850500,essv9850747,essv9850519,essv9850686,essv9850442,essv9850636,essv9850563,essv9850755,essv9850497,essv9850704,essv9850473,essv9850693,essv9850448,essv9850745,essv9850495,essv9850750,essv9850504,essv9850619,essv9850516,essv9850733,essv9850529,essv9850632,essv9850560,essv9850716,essv9850490,essv9850746,essv9850580,essv9850622,essv9850587,essv9850725,essv9850465,essv9850641,essv9850685,essv9850701,essv9850659,essv9850728,essv9850695,essv9850653,essv9850658,essv9850617,essv9850626,essv9850676,essv9850654,essv9850631,essv9850688,essv9850751,essv9850661,essv9850672,essv9850756,essv9850722,essv9850696,essv9850613,essv9850649,essv9850735,essv9850738,essv9850736,essv9850652,essv9850694,essv9850720,essv9850743,essv9850668,essv9850739,essv9850730,essv9850734,essv9850679,essv9850757,essv9850754,essv9850660,essv9850683,essv9850620,essv9850643,essv9850634,essv9850615,essv9850650,essv9850753,essv9850609,essv9850681,essv9850639,essv9850719,essv9850737,essv9850666,essv9850627,essv9850637,essv9850698,essv9850624,essv9850713,essv9850699,essv9850752,essv9850646,essv9850748,essv9850700,essv9850638,essv9850647,essv9850741,essv9850707,essv9850614,essv9850727,essv9850759,essv9850662,essv9850621,essv9850608,essv9850667,essv9850618,essv9850706,essv9850664,essv9850697,essv9850629,essv9850691,essv9850744,essv9850644,essv9850709,essv9850630,essv9850708,essv9850623,essv9850714,essv9850657,essv9850732,essv9850684,essv9850673,essv9850670,essv9850712,essv9850655,essv9850669,essv9850740,essv9850721,essv9850718,essv9850616,essv9850703,essv9850640,essv9850648,essv9850625,essv9850742,essv9850682,essv9850628,essv9850611,essv9850610,essv9850645,essv9850687,essv9850717,essv9850663,essv9850656,essv9850711,essv9850671,essv9850710,essv9850635,essv9850726,essv9850758,essv9850607,essv9850689,essv9850729 M 2504 0 955 "" HG00101,HG00103,HG00109,HG00114,HG00116,HG00121,HG00126,HG00128,HG00129,HG00131,HG00145,HG00159,HG00180,HG00182,HG00183,HG00185,HG00186,HG00190,HG00233,HG00237,HG00245,HG00259,HG00266,HG00269,HG00271,HG00274,HG00276,HG00280,HG00281,HG00313,HG00315,HG00318,HG00320,HG00323,HG00325,HG00326,HG00329,HG00334,HG00336,HG00337,HG00341,HG00344,HG00349,HG00353,HG00365,HG00373,HG00378,HG00380,HG00403,HG00409,HG00410,HG00421,HG00436,HG00437,HG00442,HG00443,HG00445,HG00448,HG00449,HG00451,HG00457,HG00458,HG00463,HG00464,HG00473,HG00476,HG00478,HG00500,HG00525,HG00531,HG00536,HG00537,HG00551,HG00553,HG00557,HG00559,HG00560,HG00583,HG00589,HG00596,HG00611,HG00613,HG00614,HG00619,HG00620,HG00622,HG00623,HG00625,HG00626,HG00628,HG00629,HG00637,HG00650,HG00651,HG00654,HG00656,HG00663,HG00671,HG00672,HG00689,HG00693,HG00699,HG00701,HG00707,HG00728,HG00729,HG00734,HG00743,HG00759,HG00844,HG00851,HG00867,HG00881,HG00956,HG00978,HG00982,HG01028,HG01031,HG01046,HG01058,HG01077,HG01079,HG01085,HG01098,HG01101,HG01105,HG01124,HG01131,HG01161,HG01176,HG01197,HG01247,HG01248,HG01259,HG01260,HG01286,HG01311,HG01326,HG01341,HG01344,HG01357,HG01366,HG01372,HG01384,HG01392,HG01412,HG01413,HG01414,HG01431,HG01438,HG01456,HG01464,HG01465,HG01488,HG01500,HG01503,HG01510,HG01522,HG01528,HG01578,HG01593,HG01595,HG01596,HG01597,HG01598,HG01600,HG01610,HG01613,HG01618,HG01620,HG01630,HG01669,HG01670,HG01673,HG01686,HG01697,HG01705,HG01707,HG01756,HG01757,HG01762,HG01765,HG01786,HG01790,HG01794,HG01795,HG01797,HG01798,HG01801,HG01804,HG01807,HG01813,HG01816,HG01840,HG01841,HG01842,HG01843,HG01844,HG01849,HG01852,HG01855,HG01857,HG01858,HG01861,HG01862,HG01864,HG01865,HG01866,HG01869,HG01870,HG01878,HG01882,HG01883,HG01885,HG01892,HG01894,HG01896,HG01912,HG01939,HG01951,HG01956,HG01974,HG01976,HG01997,HG02003,HG02006,HG02009,HG02010,HG02012,HG02013,HG02023,HG02025,HG02026,HG02029,HG02031,HG02032,HG02048,HG02050,HG02053,HG02054,HG02058,HG02061,HG02064,HG02067,HG02069,HG02072,HG02073,HG02076,HG02078,HG02081,HG02084,HG02085,HG02087,HG02102,HG02108,HG02111,HG02113,HG02116,HG02121,HG02127,HG02128,HG02130,HG02131,HG02137,HG02144,HG02146,HG02147,HG02150,HG02151,HG02152,HG02153,HG02154,HG02155,HG02164,HG02165,HG02166,HG02178,HG02181,HG02184,HG02186,HG02188,HG02221,HG02230,HG02232,HG02233,HG02235,HG02238,HG02239,HG02252,HG02253,HG02255,HG02256,HG02259,HG02260,HG02265,HG02266,HG02271,HG02272,HG02274,HG02275,HG02282,HG02283,HG02284,HG02298,HG02299,HG02301,HG02314,HG02315,HG02317,HG02330,HG02332,HG02334,HG02337,HG02343,HG02348,HG02353,HG02355,HG02360,HG02375,HG02379,HG02382,HG02383,HG02384,HG02386,HG02392,HG02395,HG02397,HG02406,HG02410,HG02419,HG02420,HG02429,HG02433,HG02439,HG02450,HG02461,HG02462,HG02464,HG02470,HG02479,HG02484,HG02490,HG02491,HG02493,HG02502,HG02508,HG02512,HG02537,HG02549,HG02555,HG02561,HG02571,HG02573,HG02574,HG02589,HG02594,HG02595,HG02597,HG02604,HG02610,HG02613,HG02614,HG02620,HG02623,HG02624,HG02629,HG02642,HG02645,HG02652,HG02657,HG02658,HG02660,HG02666,HG02702,HG02703,HG02716,HG02722,HG02731,HG02734,HG02759,HG02760,HG02768,HG02775,HG02783,HG02790,HG02798,HG02799,HG02804,HG02807,HG02808,HG02811,HG02813,HG02817,HG02820,HG02840,HG02852,HG02879,HG02882,HG02884,HG02887,HG02890,HG02922,HG02923,HG02943,HG02944,HG02947,HG02973,HG02974,HG02977,HG02983,HG03006,HG03007,HG03012,HG03028,HG03040,HG03055,HG03057,HG03060,HG03061,HG03063,HG03064,HG03072,HG03077,HG03082,HG03084,HG03085,HG03095,HG03096,HG03108,HG03111,HG03112,HG03120,HG03121,HG03123,HG03124,HG03126,HG03129,HG03130,HG03136,HG03159,HG03162,HG03163,HG03166,HG03168,HG03172,HG03175,HG03193,HG03195,HG03196,HG03198,HG03199,HG03202,HG03224,HG03234,HG03235,HG03238,HG03246,HG03247,HG03258,HG03259,HG03265,HG03267,HG03268,HG03271,HG03279,HG03291,HG03294,HG03297,HG03298,HG03300,HG03303,HG03304,HG03311,HG03342,HG03343,HG03363,HG03366,HG03378,HG03380,HG03391,HG03401,HG03419,HG03428,HG03433,HG03442,HG03445,HG03446,HG03457,HG03458,HG03461,HG03470,HG03476,HG03484,HG03511,HG03514,HG03520,HG03538,HG03547,HG03556,HG03563,HG03571,HG03572,HG03575,HG03578,HG03583,HG03607,HG03616,HG03625,HG03629,HG03634,HG03640,HG03645,HG03689,HG03697,HG03702,HG03705,HG03706,HG03708,HG03717,HG03718,HG03722,HG03738,HG03740,HG03762,HG03765,HG03767,HG03771,HG03772,HG03774,HG03777,HG03778,HG03781,HG03787,HG03790,HG03792,HG03803,HG03812,HG03815,HG03817,HG03821,HG03832,HG03833,HG03849,HG03850,HG03856,HG03869,HG03874,HG03886,HG03890,HG03898,HG03902,HG03907,HG03917,HG03926,HG03940,HG03941,HG03967,HG03976,HG03977,HG03995,HG03999,HG04001,HG04002,HG04014,HG04018,HG04029,HG04033,HG04056,HG04070,HG04080,HG04094,HG04096,HG04106,HG04118,HG04134,HG04140,HG04146,HG04155,HG04188,HG04189,HG04200,HG04209,HG04211,HG04216,HG04219,HG04225,HG04227,HG04238,NA06994,NA07048,NA07056,NA11829,NA11843,NA11893,NA11930,NA12004,NA12006,NA12044,NA12156,NA12249,NA12275,NA12283,NA12413,NA12718,NA12761,NA12777,NA12843,NA12872,NA12873,NA12878,NA12889,NA18488,NA18489,NA18498,NA18499,NA18501,NA18505,NA18507,NA18508,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18526,NA18528,NA18530,NA18531,NA18534,NA18535,NA18537,NA18542,NA18546,NA18559,NA18560,NA18564,NA18567,NA18571,NA18574,NA18577,NA18579,NA18591,NA18596,NA18597,NA18602,NA18603,NA18606,NA18612,NA18614,NA18617,NA18618,NA18620,NA18622,NA18623,NA18625,NA18626,NA18627,NA18628,NA18629,NA18630,NA18631,NA18638,NA18639,NA18640,NA18641,NA18643,NA18645,NA18648,NA18740,NA18745,NA18748,NA18749,NA18757,NA18858,NA18864,NA18865,NA18867,NA18874,NA18878,NA18881,NA18907,NA18909,NA18910,NA18915,NA18916,NA18934,NA18939,NA18940,NA18942,NA18944,NA18945,NA18949,NA18950,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18962,NA18968,NA18969,NA18971,NA18974,NA18975,NA18977,NA18979,NA18980,NA18981,NA18990,NA18992,NA18994,NA18995,NA18998,NA18999,NA19002,NA19003,NA19004,NA19005,NA19007,NA19017,NA19019,NA19024,NA19026,NA19027,NA19028,NA19030,NA19031,NA19037,NA19038,NA19043,NA19054,NA19056,NA19058,NA19062,NA19063,NA19064,NA19067,NA19072,NA19077,NA19079,NA19080,NA19081,NA19082,NA19084,NA19085,NA19086,NA19087,NA19088,NA19090,NA19092,NA19093,NA19098,NA19113,NA19118,NA19119,NA19121,NA19130,NA19137,NA19138,NA19141,NA19143,NA19146,NA19147,NA19152,NA19159,NA19160,NA19175,NA19184,NA19190,NA19200,NA19204,NA19207,NA19209,NA19213,NA19214,NA19238,NA19239,NA19247,NA19248,NA19256,NA19257,NA19307,NA19308,NA19314,NA19315,NA19316,NA19317,NA19318,NA19319,NA19320,NA19321,NA19323,NA19324,NA19328,NA19331,NA19334,NA19347,NA19350,NA19351,NA19355,NA19372,NA19375,NA19376,NA19378,NA19380,NA19383,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19404,NA19429,NA19430,NA19436,NA19438,NA19443,NA19446,NA19448,NA19449,NA19451,NA19452,NA19455,NA19456,NA19461,NA19463,NA19466,NA19467,NA19468,NA19471,NA19472,NA19473,NA19649,NA19654,NA19655,NA19657,NA19663,NA19664,NA19670,NA19679,NA19681,NA19682,NA19684,NA19703,NA19707,NA19711,NA19717,NA19719,NA19723,NA19726,NA19731,NA19732,NA19735,NA19741,NA19749,NA19759,NA19764,NA19777,NA19786,NA19792,NA19795,NA19818,NA19819,NA19835,NA19900,NA19901,NA19916,NA19920,NA19982,NA20276,NA20281,NA20282,NA20296,NA20298,NA20317,NA20320,NA20321,NA20334,NA20340,NA20342,NA20355,NA20357,NA20359,NA20503,NA20508,NA20509,NA20522,NA20524,NA20530,NA20531,NA20534,NA20539,NA20542,NA20543,NA20586,NA20753,NA20757,NA20758,NA20760,NA20761,NA20767,NA20785,NA20801,NA20802,NA20803,NA20804,NA20806,NA20808,NA20809,NA20813,NA20814,NA20819,NA20826,NA20827,NA20846,NA20849,NA20850,NA20851,NA20853,NA20864,NA20869,NA20877,NA20884,NA20894,NA20896,NA20897,NA20899,NA20901,NA20902,NA20903,NA20905,NA20908,NA21088,NA21090,NA21091,NA21095,NA21099,NA21103,NA21108,NA21109,NA21111,NA21114,NA21116,NA21122,NA21123,NA21125,NA21127,NA21135,NA21141,NA21142,NA21143,NA21144 nsv4745499 1 9595371 9597436 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16292446 M 25 0 1 "" esv2743608 1 9595457 9597665 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6874695,essv6764149,essv6750588,essv6916607,essv6721998,essv6748231,essv6784488,essv6714234,essv6816654,essv6761846,essv6759034,essv6937670,essv6733474,essv6742129,essv6756544,essv6718832,essv6718821,essv6679158,essv6910033,essv6744927 M 96 0 19 "" SSM003,SSM007,SSM008,SSM009,SSM010,SSM015,SSM022,SSM033,SSM043,SSM045,SSM049,SSM053,SSM055,SSM057,SSM059,SSM061,SSM062,SSM063,SSM092 dgv16n209 1 9595531 9597700 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5886448,nsv5869449 M 914 0 2 "" nsv6315825 1 9595560 9596559 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066116 M 19652 0 1 "" nsv5831044 1 9595593 9597537 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482496 M 914 0 0 "" nsv1073989 1 9595599 9597700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772053 M 1 0 1 "" KWP1 nsv5566382 1 9595612 9597665 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067174 M 35 0 1 "" NA19238 esv2666637 1 9595612 9597666 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6187086,essv5983730,essv5454005,essv6520259,essv5683474,essv6010936,essv5617752,essv5914429,essv6380723,essv6405803,essv5590412,essv5979472,essv6055603,essv5869329,essv5611294,essv6563175,essv5487347,essv5949081,essv5706065,essv6012734,essv5748588,essv6369639,essv6054306,essv6438640,essv5460453,essv6416876,essv6285075,essv6510724,essv6591424,essv5524302,essv5527703,essv5466430,essv6049171,essv6060597,essv5761664,essv6473109,essv5513388,essv5898392,essv5876905,essv6352752,essv6042370,essv6305789,essv5851346,essv5401906,essv6336274,essv5693721,essv6213567,essv5855519,essv5508025,essv6017923,essv6023935,essv5817852,essv5914542,essv5863475,essv5906162,essv5757075,essv6274153,essv5612888,essv5703400,essv6080202,essv6295407,essv5507614,essv6216034,essv6024779,essv5916025,essv6293735,essv5854863,essv6217789,essv6060052,essv6541409,essv5699651,essv5712137,essv6159056,essv5978811,essv5923143,essv6475668,essv6114540,essv5526813,essv6547728,essv6149150,essv6319968,essv5578756,essv6473056,essv5833999,essv5809168,essv5546164,essv6016837,essv6545500,essv5700797,essv6230142,essv5431428,essv5459265,essv6039895,essv6362657,essv6528203,essv5441131,essv5621312,essv5528227,essv6020131,essv6464974,essv5956608,essv6144493,essv6467205,essv5745120,essv6419394,essv6260032,essv6117717,essv5424861,essv5585645,essv5673208,essv6489236,essv5992767,essv5644461,essv6375360,essv5673031,essv5524841,essv5807091,essv6538085,essv5559182,essv6520532,essv5579610,essv6443580,essv5599325,essv5521458,essv5477603,essv5599356,essv6264189,essv6414978,essv5747117,essv5646574,essv5457282,essv6084655,essv6561264,essv5995200,essv5572624,essv6340793,essv6120919,essv6082670,essv6238842,essv5402926,essv5928034,essv5855300,essv6496599,essv6587272,essv5442803,essv6153640,essv5503240,essv6481306,essv5588201,essv6341641,essv6332118,essv5499670,essv5676778,essv5624447,essv5726125,essv5996627,essv6071094,essv6542241,essv6077547,essv5629956,essv5573133,essv5550012,essv6587994,essv6069973,essv6579350,essv6368599,essv6156214,essv6165464,essv5412360,essv6039710,essv6358998,essv5639628,essv5509662,essv6597098,essv6135014,essv6363620,essv5904380,essv5969273,essv6246538,essv5500317,essv6564173,essv5993111,essv5948513,essv5792062,essv5656239,essv6525440,essv6373430,essv5750620,essv5725552,essv6455193,essv5729759,essv6501221,essv5462748,essv5997424,essv6556181,essv6373691,essv6487294 M 1151 0 197 "" HG00114,HG00116,HG00126,HG00131,HG00156,HG00159,HG00180,HG00182,HG00183,HG00186,HG00190,HG00237,HG00245,HG00249,HG00259,HG00266,HG00269,HG00271,HG00276,HG00280,HG00281,HG00313,HG00315,HG00320,HG00323,HG00325,HG00326,HG00329,HG00337,HG00373,HG00403,HG00418,HG00421,HG00436,HG00437,HG00448,HG00449,HG00464,HG00525,HG00531,HG00536,HG00559,HG00560,HG00589,HG00596,HG00611,HG00613,HG00620,HG00625,HG00626,HG00628,HG00629,HG00637,HG00651,HG00654,HG00656,HG00671,HG00689,HG00699,HG00701,HG01079,HG01101,HG01124,HG01197,HG01465,HG01488,NA07048,NA11843,NA11930,NA12249,NA12275,NA12889,NA18489,NA18498,NA18516,NA18520,NA18522,NA18530,NA18534,NA18535,NA18559,NA18560,NA18564,NA18567,NA18574,NA18579,NA18596,NA18597,NA18602,NA18603,NA18606,NA18617,NA18618,NA18622,NA18623,NA18626,NA18627,NA18628,NA18630,NA18631,NA18867,NA18874,NA18910,NA18950,NA18959,NA18980,NA18999,NA19003,NA19004,NA19007,NA19054,NA19056,NA19058,NA19062,NA19063,NA19064,NA19067,NA19082,NA19085,NA19130,NA19138,NA19213,NA19247,NA19248,NA19256,NA19316,NA19318,NA19319,NA19321,NA19324,NA19328,NA19331,NA19334,NA19350,NA19372,NA19376,NA19380,NA19383,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19398,NA19404,NA19430,NA19436,NA19446,NA19448,NA19456,NA19463,NA19471,NA19472,NA19654,NA19655,NA19657,NA19663,NA19679,NA19681,NA19682,NA19684,NA19703,NA19707,NA19711,NA19717,NA19719,NA19723,NA19726,NA19731,NA19749,NA19777,NA19818,NA19819,NA19835,NA19900,NA19901,NA19916,NA19920,NA19982,NA20276,NA20282,NA20317,NA20340,NA20341,NA20508,NA20509,NA20522,NA20530,NA20586,NA20753,NA20758,NA20761,NA20785,NA20802,NA20816,NA20819 nsv6318182 1 9595612 9597666 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066117 M 19652 0 1 "" esv3543455 1 9595612 9597728 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9742202 M 767 0 1 "" nsv2802626 1 9595614 9597667 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13682074 M 2 0 1 "" nsv3324897 1 9595614 9597667 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484197,nssv14490800,nssv14487479 M 14 0 3 "" CHM1,HG02059,HG02818 nsv3049903 1 9595615 9597669 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14024281 M 2 0 1 "" NA12878 nsv5985134 1 9595631 9597668 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521582 M 405 0 1 "" nsv957944 1 9595632 9597645 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005160 M 1 0 1 "" BILGI_BIOE nsv5428755 1 9595641 9597609 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890323 M 3202 0 1 "" esv28451 1 9596173 9597928 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15031,esv11914 M 40 0 5 "" NA18505,NA18907,NA19147,NA19190,NA19257 dgv98n54 1 9596385 9596971 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545365,nsv545364,nsv545368 M 17421 0 25 "" dgv99n54 1 9596385 9597415 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545369,nsv545366,nsv545367 M 17421 0 3 "" nsv6334576 1 9596660 9597659 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066119 M 19652 0 1 "" dgv100n54 1 9596673 9597885 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545370,nsv545376,nsv545375,nsv545374 M 17421 5 0 "" dgv101n54 1 9596766 9596971 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545372,nsv545371 M 17421 0 6 "" nsv545373 1 9596766 9597728 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709707 M 17421 0 1 "" nsv4035575 1 9597164 9597583 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855018 M 10847 0 1 "" nsv2076 1 9597218 9631433 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3078 M 9 1 0 SLC25A33 NA18555 nsv545377 1 9597237 9602962 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709712 M 17421 1 0 SLC25A33 nsv6328616 1 9597656 9607386 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066120 M 19652 0 1 SLC25A33 nsv5413918 1 9599777 9627163 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890334 M 3202 0 1 SLC25A33 nsv6333766 1 9601160 9602159 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066122 M 19652 0 1 SLC25A33 nsv6323733 1 9601460 9603454 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202106 M 19652 1 0 SLC25A33 nsv5985004 1 9601499 9606534 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17520816 M 405 1 0 SLC25A33 nsv5985005 1 9602050 9606430 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531516 M 405 0 1 SLC25A33 nsv6541084 1 9603929 9604396 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253969 M 19652 0 0 SLC25A33 esv2658500 1 9603985 9608653 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5603879 M 1151 0 1 SLC25A33 NA19725 esv3585180 1 9604082 9608570 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851223 M 2504 0 1 SLC25A33 NA19725 nsv5430534 1 9604116 9608550 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890335 M 3202 0 1 SLC25A33 nsv6543911 1 9605524 9605947 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253970 M 19652 0 0 SLC25A33 nsv6324014 1 9605655 9606453 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066129 M 19652 0 1 SLC25A33 nsv5985055 1 9607458 9608575 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520468 M 405 0 1 SLC25A33 nsv6331423 1 9608208 9609889 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066132 M 19652 0 1 SLC25A33 esv3682083 1 9609403 9609462 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16503080 M 20 0 1 SLC25A33 nsv4040922 1 9609782 9615312 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965385 M 10847 1 0 SLC25A33 nsv5415880 1 9609950 9610946 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890336 M 3202 0 1 SLC25A33 nsv6538168 1 9610766 9611242 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253971 M 19652 0 0 SLC25A33 nsv5830854 1 9611239 9612438 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482500 M 914 0 0 SLC25A33 nsv5421604 1 9614024 9614075 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890337 M 3202 1 0 SLC25A33 nsv6326189 1 9614595 9615823 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066138 M 19652 0 1 SLC25A33 esv3585181 1 9620016 9622208 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851224 M 2504 0 1 SLC25A33 HG01351 esv2660900 1 9620053 9622149 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5875165 M 1151 0 1 SLC25A33 HG01351 nsv6333396 1 9620053 9622149 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18064618 M 19652 0 1 SLC25A33 nsv5427693 1 9620074 9622149 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890338 M 3202 0 1 SLC25A33 esv3655858 1 9622107 9622107 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479476 M 20 1 0 SLC25A33 nsv6047625 1 9622107 9622107 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534884 M 405 1 0 SLC25A33 nsv6547503 1 9622760 9623308 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18253973 M 19652 0 0 SLC25A33 nsv6046714 1 9624810 9624810 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523823 M 405 1 0 SLC25A33 nsv5619406 1 9624823 9624823 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067178 M 35 1 0 SLC25A33 NA18534 nsv5718273 1 9633484 9633484 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17240566,nssv17236299 M 3202 2 0 SLC25A33 nsv945765 1 9633634 9639115 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754728,nssv1754741,nssv1753477,nssv1754762,nssv1754772,nssv1754788,nssv1753473,nssv1754747,nssv1753465,nssv1754737,nssv1753464,nssv1754748,nssv1753486,nssv1754743,nssv1753480,nssv1754764,nssv1754773,nssv1754730,nssv1753460,nssv1754738,nssv1754729,nssv1754744,nssv1754724,nssv1754782,nssv1753474,nssv1754763,nssv1754726,nssv1754750,nssv1754774,nssv1754768,nssv1753490,nssv1754752,nssv1753468,nssv1754745,nssv1753483,nssv1754781,nssv1753479,nssv1754736,nssv1753475,nssv1754746,nssv1753489,nssv1754767,nssv1753491,nssv1754785,nssv1753487,nssv1754786,nssv1753467,nssv1754787,nssv1754725,nssv1754751,nssv1754778,nssv1754758,nssv1753472,nssv1754766,nssv1754775,nssv1754760,nssv1753484,nssv1754739,nssv1754769,nssv1754755,nssv1754776,nssv1754754,nssv1753466,nssv1754759,nssv1753488,nssv1754735,nssv1753481,nssv1754757,nssv1753476,nssv1754734,nssv1753478,nssv1754733,nssv1754771,nssv1754749,nssv1753482,nssv1754731,nssv1753485,nssv1754742,nssv1754770,nssv1754779,nssv1753471,nssv1754756,nssv1754727,nssv1754740,nssv1753470,nssv1754761,nssv1753462,nssv1754780,nssv1754777,nssv1754783,nssv1753469,nssv1754784,nssv1753461,nssv1754732,nssv1753463,nssv1754765,nssv1754753 M 97 10 0 SLC25A33 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6320455 1 9635501 9637302 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065247 M 19652 0 1 SLC25A33 nsv5615383 1 9636805 9636805 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067350 M 35 1 0 SLC25A33 HG03486 nsv4535525 1 9636805 9636806 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025800 M 10847 1 0 SLC25A33 nsv5693769 1 9636820 9636820 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17220779,nssv17203614 M 3202 2 0 SLC25A33 nsv5409805 1 9636820 9636871 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890342 M 3202 1 0 SLC25A33 nsv5420676 1 9643255 9644032 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890343 M 3202 0 1 "" nsv5868269 1 9644049 9644164 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17407567 M 914 0 1 "" nsv4052212 1 9644052 9644165 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855036 M 10847 0 1 "" nsv5429411 1 9644052 9644165 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890344 M 3202 0 1 "" nsv474814 1 9644646 9644646 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018493 M 9 1 0 "" NA18956 nsv4041174 1 9646273 9646407 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965386 M 10847 1 0 "" nsv4463256 1 9646758 9646759 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025811 M 10847 1 0 "" nsv1118098 1 9648700 9649300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980317 M 2 0 1 TMEM201 KWS1 nsv5424592 1 9650927 9651072 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890345 M 3202 1 0 TMEM201 esv2743619 1 9652507 9652933 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6929053,essv6950542 M 96 0 2 TMEM201 SSM020,SSM025 nsv4035604 1 9657151 9657324 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855046 M 10847 0 1 TMEM201 nsv5420416 1 9657151 9657324 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890346 M 3202 0 1 TMEM201 nsv4034851 1 9660200 9660512 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855057 M 10847 0 1 TMEM201 nsv5953389 1 9665669 9665669 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17401108 M 914 1 0 TMEM201 nsv4537106 1 9665669 9665670 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025822 M 10847 1 0 TMEM201 nsv2187 1 9667296 9693750 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3334,nssv4948,nssv10282,nssv3119,nssv9906,nssv1500,nssv6883 M 9 7 0 TMEM201 NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv5830552 1 9672134 9674133 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482508 M 914 0 0 TMEM201 nsv508847 1 9672195 9738889 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621081,nssv619767,nssv623772 M 4 3 0 C1orf200,PIK3CD,TMEM201 NA10860,NA15510,NA18994 nsv6333259 1 9675437 9676947 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065294 M 19652 0 1 "" nsv3184725 1 9675468 9675602 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441205 M 9 0 0 "" HG00733 nsv5426243 1 9676775 9683333 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890348 M 3202 1 0 "" nsv4571023 1 9680688 9680689 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025829 M 10847 1 0 "" nsv4032834 1 9681573 9686733 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855745 M 10847 0 1 "" nsv3226827 1 9683252 9684966 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259944,nssv14259945,nssv14259946,nssv14259942,nssv14259941,nssv14259949,nssv14259943,nssv14259947,nssv14259948 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4444595 1 9683994 9683994 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762472 M 1 1 0 "" nsv5985136 1 9683994 9684255 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17537274 M 405 1 0 "" esv1010171 1 9684008 9685520 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565355 M 3 1 0 "" HuRef nsv3938055 1 9684046 9684046 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192086 M 1 1 0 "" HG002 nsv5549613 1 9684046 9684046 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890349 M 3202 1 0 "" nsv5620765 1 9684046 9684046 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067354 M 35 1 0 "" HG00731 nsv6055785 1 9684046 9684046 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518814 M 405 1 0 "" nsv2801728 1 9684047 9684047 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694488,nssv13686215 M 2 2 0 "" nsv3324898 1 9684047 9684047 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476539,nssv14491265,nssv14488668,nssv14481929,nssv14488334,nssv14486826,nssv14477274,nssv14472844,nssv14477533,nssv14484198,nssv14485262,nssv14490491,nssv14478847 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3522261 1 9684050 9684050 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441207 M 9 1 0 "" HG00733 nsv3524637 1 9684054 9684054 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412704,nssv14390430 M 9 2 0 "" HG00514,NA19240 nsv6050502 1 9684065 9684065 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531417 M 405 1 0 "" nsv3218274 1 9684966 9688821 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14268060,nssv14268057,nssv14268059,nssv14268058 M 9 4 0 "" HG00514,HG00733,NA19239,NA19240 nsv1136030 1 9685182 9688695 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989634 M 2 0 1 "" KWS2 nsv5870670 1 9690684 9691203 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17390323 M 914 0 1 "" nsv6328174 1 9701934 9704756 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065330 M 19652 0 1 "" nsv1122294 1 9702584 9702646 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969745 M 2 0 1 "" KWS2 nsv4463119 1 9703711 9703712 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026398 M 10847 1 0 "" nsv6325495 1 9704491 9710393 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202114 M 19652 1 0 "" nsv4037170 1 9704751 9705309 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855753 M 10847 0 1 "" nsv4516538 1 9705582 9705691 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855762 M 10847 0 1 "" nsv4046262 1 9717245 9724079 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965387 M 10847 1 0 PIK3CD nsv4536364 1 9720136 9720137 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024825 M 10847 1 0 PIK3CD esv3585184 1 9720878 9733089 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851314 M 2504 0 1 PIK3CD HG01578 nsv5423460 1 9721044 9733160 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890607 M 3202 0 1 PIK3CD nsv6325810 1 9721329 9724267 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065346 M 19652 0 1 PIK3CD nsv832203 1 9726632 9860209 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442685 M 95 0 1 CLSTN1,PIK3CD nsv5421531 1 9728452 9760074 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890618 M 3202 1 0 PIK3CD nsv4035870 1 9728478 9734816 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855796 M 10847 0 1 PIK3CD esv3585185 1 9730089 9752220 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851315 M 2504 1 0 PIK3CD HG01867 esv3585186 1 9730509 9736935 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851316 M 2504 0 1 PIK3CD HG02082 nsv5414091 1 9730523 9736941 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891220 M 3202 0 1 PIK3CD nsv6319735 1 9739154 9745561 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202118 M 19652 1 0 PIK3CD nsv4043517 1 9739185 9745523 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965389 M 10847 1 0 PIK3CD nsv3526585 1 9740339 9740569 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14322661,nssv14322662 M 9 2 0 PIK3CD NA19238,NA19239 nsv5878803 1 9740339 9740569 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17399061 M 914 1 0 PIK3CD nsv5420018 1 9740339 9740570 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891221 M 3202 1 0 PIK3CD nsv6322444 1 9740339 9740570 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202119 M 19652 1 0 PIK3CD esv3302499 1 9740349 9740565 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7731648,essv7731291,essv7730969 M 185 3 0 PIK3CD NA19238,NA19239,NA19240 esv3377271 1 9740362 9740576 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8670925,essv8670923,essv8670924 M 185 3 0 PIK3CD NA19238,NA19239,NA19240 nsv3556291 1 9740506 9740506 CNV line1 insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383008 M 9 1 0 PIK3CD NA19240 nsv5623686 1 9740506 9740506 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067371 M 35 1 0 PIK3CD NA19238 nsv3326016 1 9740542 9740542 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490049 M 14 1 0 PIK3CD NA19240 nsv6317443 1 9742759 9745258 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065365 M 19652 0 1 PIK3CD nsv5428096 1 9745698 9753555 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891222 M 3202 0 1 PIK3CD nsv4566375 1 9746112 9746113 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024835 M 10847 1 0 PIK3CD nsv1118099 1 9749500 9750000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980318 M 2 0 1 PIK3CD KWS1 nsv1077042 1 9749599 9750100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771611 M 1 0 1 PIK3CD KWP1 nsv6550726 1 9752690 9753295 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252777 M 19652 0 0 PIK3CD nsv4036469 1 9755447 9755907 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855807 M 10847 0 1 PIK3CD nsv6539898 1 9755760 9756326 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252778 M 19652 0 0 PIK3CD nsv5880266 1 9756451 9756615 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17406238 M 914 0 1 PIK3CD nsv6538640 1 9761650 9762177 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252780 M 19652 0 0 PIK3CD nsv5957609 1 9762558 9762558 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17406991 M 914 1 0 PIK3CD nsv160151 1 9762596 9766108 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178729 M 24 PIK3CD nsv6325884 1 9766446 9802861 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202120 M 19652 1 0 CLSTN1,PIK3CD nsv1137726 1 9768668 9768736 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990234 M 2 0 1 PIK3CD KWS2 nsv1126975 1 9768725 9768779 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985263 M 2 0 1 PIK3CD KWS1 nsv4560455 1 9789109 9789110 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024846 M 10847 1 0 CLSTN1,PIK3CD nsv4039013 1 9789602 9789679 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965390 M 10847 1 0 CLSTN1 nsv5418726 1 9789602 9789679 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891223 M 3202 1 0 CLSTN1 nsv4462564 1 9801172 9801173 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024856 M 10847 1 0 CLSTN1 nsv6541477 1 9805568 9806063 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252783 M 19652 0 0 CLSTN1 nsv4042090 1 9805585 9805669 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856206 M 10847 0 1 CLSTN1 nsv1126976 1 9805856 9805930 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985264 M 2 0 1 CLSTN1 KWS1 nsv6537511 1 9813552 9814711 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252786 M 19652 0 0 CLSTN1 nsv4462520 1 9814246 9814247 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024867 M 10847 1 0 CLSTN1 esv3543788 1 9817000 9817546 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9742535 M 767 0 1 CLSTN1 nsv6326845 1 9817027 9817540 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065704 M 19652 0 1 CLSTN1 esv2662594 1 9817083 9817546 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6053227,essv6552130,essv6434280,essv5605258 M 1151 0 4 CLSTN1 HG00133,HG00319,HG01072,NA11893 nsv5417406 1 9817122 9817501 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891227 M 3202 0 1 CLSTN1 nsv4517848 1 9818543 9819446 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856224 M 10847 0 1 CLSTN1 esv2656500 1 9822241 9825839 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6302894 M 1151 0 1 CLSTN1 HG00419 esv3585187 1 9822323 9825846 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851317,essv9851318 M 2504 0 2 CLSTN1 HG00419,HG01805 nsv5417654 1 9822401 9825814 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891228 M 3202 0 1 CLSTN1 nsv5985468 1 9822401 9825823 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521017 M 405 0 1 CLSTN1 nsv5613274 1 9822581 9822581 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068260 M 35 1 0 CLSTN1 HG00731 nsv3324903 1 9822582 9822582 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487337 M 14 1 0 CLSTN1 HG02818 nsv3533285 1 9822627 9822627 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441208 M 9 1 0 CLSTN1 HG00733 nsv5955263 1 9822651 9822651 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17390441 M 914 1 0 CLSTN1 nsv5557848 1 9822684 9822756 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891231 M 3202 0 0 CLSTN1 nsv5876217 1 9822686 9822756 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17391041 M 914 0 1 CLSTN1 esv3543899 1 9822722 9822849 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9742646 M 767 0 1 CLSTN1 nsv827364 1 9822732 9825197 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431975 M 31 0 1 CLSTN1 NA18972 nsv5419681 1 9824551 9825555 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891232 M 3202 0 1 CLSTN1 nsv6327319 1 9825186 9826454 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202124 M 19652 1 0 CLSTN1 nsv2298 1 9826286 9857487 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10302 M 9 0 1 CLSTN1 NA18956 nsv6324517 1 9826703 9831566 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065718 M 19652 0 1 CLSTN1 nsv3200105 1 9827999 9886549 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14280265,nssv14280266 M 9 0 2 CLSTN1 HG00513,NA19238 nsv1076086 1 9828299 9829100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769632 M 1 0 1 CLSTN1 KWP1 nsv6052761 1 9828429 9828429 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524567 M 405 1 0 CLSTN1 nsv4748869 1 9828694 9828754 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260511 M 25 0 1 CLSTN1 nsv5985058 1 9828732 9828790 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536217 M 405 0 1 CLSTN1 nsv5985059 1 9828808 9828872 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518582 M 405 0 1 CLSTN1 nsv6540414 1 9833836 9834596 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252790 M 19652 0 0 CLSTN1 nsv4041871 1 9834422 9837083 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965391 M 10847 1 0 CLSTN1 nsv4730532 1 9834482 9842926 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16286526 M 25 0 1 CLSTN1 nsv6321990 1 9837134 9848141 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065740 M 19652 0 1 CLSTN1 nsv6544299 1 9839004 9839946 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252791 M 19652 0 0 CLSTN1 nsv4462569 1 9841102 9841103 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024886 M 10847 1 0 CLSTN1 nsv5676523 1 9841416 9841416 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17227843 M 3202 1 0 CLSTN1 nsv5394564 1 9841416 9841467 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891234 M 3202 1 0 CLSTN1 nsv4463273 1 9842504 9842505 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024896 M 10847 1 0 CLSTN1 nsv5877090 1 9843863 9848440 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17401189 M 914 0 1 CLSTN1 nsv5831052 1 9844315 9846458 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482515 M 914 0 0 CLSTN1 esv3577725 1 9844762 9855709 CNV loss Uddin_et_al_2014 25503493 SNP array essv9795644,essv9795533 M 873 0 2 CLSTN1 400837HN,400987FB esv3585188 1 9846036 9856679 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851324,essv9851425,essv9851321,essv9851422,essv9851322,essv9851426,essv9851326,essv9851392,essv9851323,essv9851399,essv9851319,essv9851381,essv9851325,essv9851378,essv9851320,essv9851416,essv9851327,essv9851408,essv9851445,essv9851533,essv9851385,essv9851433,essv9851532,essv9851407,essv9851435,essv9851527,essv9851387,essv9851443,essv9851530,essv9851404,essv9851444,essv9851539,essv9851420,essv9851436,essv9851524,essv9851412,essv9851428,essv9851543,essv9851424,essv9851431,essv9851525,essv9851382,essv9851441,essv9851528,essv9851380,essv9851439,essv9851519,essv9851397,essv9851437,essv9851546,essv9851411,essv9851434,essv9851518,essv9851418,essv9851438,essv9851538,essv9851405,essv9851432,essv9851522,essv9851415,essv9851429,essv9851552,essv9851394,essv9851427,essv9851551,essv9851423,essv9851440,essv9851529,essv9851421,essv9851430,essv9851555,essv9851388,essv9851442,essv9851545,essv9851386,essv9851540,essv9851390,essv9851550,essv9851393,essv9851523,essv9851414,essv9851542,essv9851401,essv9851521,essv9851413,essv9851547,essv9851391,essv9851531,essv9851417,essv9851534,essv9851395,essv9851548,essv9851389,essv9851535,essv9851406,essv9851541,essv9851409,essv9851520,essv9851384,essv9851544,essv9851383,essv9851553,essv9851410,essv9851536,essv9851400,essv9851526,essv9851377,essv9851554,essv9851403,essv9851549,essv9851379,essv9851537,essv9851398,essv9851373,essv9851396,essv9851371,essv9851376,essv9851335,essv9851419,essv9851374,essv9851402,essv9851347,essv9851496,essv9851354,essv9851462,essv9851360,essv9851482,essv9851334,essv9851514,essv9851361,essv9851448,essv9851368,essv9851466,essv9851359,essv9851457,essv9851328,essv9851517,essv9851357,essv9851493,essv9851375,essv9851472,essv9851329,essv9851513,essv9851342,essv9851486,essv9851336,essv9851461,essv9851356,essv9851451,essv9851344,essv9851478,essv9851340,essv9851488,essv9851349,essv9851516,essv9851330,essv9851497,essv9851366,essv9851453,essv9851350,essv9851469,essv9851353,essv9851508,essv9851348,essv9851452,essv9851355,essv9851494,essv9851358,essv9851503,essv9851362,essv9851492,essv9851331,essv9851475,essv9851365,essv9851512,essv9851332,essv9851471,essv9851341,essv9851509,essv9851351,essv9851454,essv9851343,essv9851467,essv9851369,essv9851499,essv9851333,essv9851458,essv9851372,essv9851474,essv9851345,essv9851481,essv9851346,essv9851463,essv9851339,essv9851483,essv9851370,essv9851450,essv9851352,essv9851484,essv9851337,essv9851480,essv9851338,essv9851505,essv9851364,essv9851504,essv9851367,essv9851468,essv9851363,essv9851470,essv9851593,essv9851489,essv9851583,essv9851487,essv9851563,essv9851479,essv9851562,essv9851473,essv9851560,essv9851459,essv9851576,essv9851498,essv9851588,essv9851515,essv9851574,essv9851449,essv9851561,essv9851495,essv9851568,essv9851456,essv9851586,essv9851446,essv9851587,essv9851511,essv9851594,essv9851464,essv9851605,essv9851501,essv9851557,essv9851460,essv9851577,essv9851506,essv9851582,essv9851485,essv9851591,essv9851491,essv9851609,essv9851465,essv9851578,essv9851502,essv9851608,essv9851507,essv9851566,essv9851490,essv9851606,essv9851476,essv9851556,essv9851500,essv9851565,essv9851477,essv9851584,essv9851455,essv9851601,essv9851510,essv9851603,essv9851447,essv9851575,essv9851597,essv9851569,essv9851611,essv9851585,essv9851607,essv9851564,essv9851589,essv9851600,essv9851558,essv9851592,essv9851573,essv9851579,essv9851596,essv9851581,essv9851559,essv9851599,essv9851570,essv9851580,essv9851598,essv9851571,essv9851572,essv9851602,essv9851604,essv9851610,essv9851590,essv9851595,essv9851567 M 2504 0 293 CLSTN1 HG00171,HG00266,HG00353,HG00404,HG00406,HG00409,HG00422,HG00449,HG00457,HG00513,HG00533,HG00536,HG00553,HG00559,HG00560,HG00592,HG00593,HG00614,HG00628,HG00629,HG00651,HG00654,HG00672,HG00683,HG00684,HG00689,HG00699,HG00707,HG00708,HG00717,HG00759,HG00844,HG00851,HG00867,HG00978,HG01046,HG01048,HG01101,HG01162,HG01177,HG01257,HG01281,HG01305,HG01308,HG01341,HG01344,HG01348,HG01360,HG01398,HG01412,HG01443,HG01447,HG01462,HG01495,HG01571,HG01572,HG01589,HG01805,HG01810,HG01840,HG01841,HG01853,HG01862,HG01866,HG01893,HG01918,HG01921,HG01924,HG01927,HG01932,HG01935,HG01939,HG01947,HG01953,HG01954,HG01974,HG01976,HG01982,HG01997,HG02040,HG02047,HG02048,HG02060,HG02085,HG02086,HG02104,HG02121,HG02137,HG02146,HG02150,HG02166,HG02186,HG02187,HG02265,HG02266,HG02271,HG02272,HG02275,HG02277,HG02291,HG02298,HG02299,HG02301,HG02348,HG02380,HG02382,HG02384,HG02389,HG02513,HG02522,HG02603,HG02688,HG02690,HG02724,HG02727,HG02736,HG02774,HG02783,HG02784,HG02787,HG02789,HG02792,HG02793,HG03021,HG03228,HG03229,HG03237,HG03603,HG03631,HG03640,HG03644,HG03645,HG03646,HG03679,HG03684,HG03690,HG03693,HG03694,HG03696,HG03709,HG03731,HG03736,HG03738,HG03742,HG03746,HG03750,HG03754,HG03755,HG03762,HG03789,HG03792,HG03793,HG03796,HG03803,HG03809,HG03829,HG03836,HG03846,HG03849,HG03850,HG03851,HG03862,HG03867,HG03868,HG03869,HG03872,HG03900,HG03910,HG03916,HG03920,HG03937,HG03944,HG03947,HG03960,HG03967,HG03968,HG03976,HG03978,HG03985,HG04006,HG04015,HG04023,HG04026,HG04035,HG04039,HG04060,HG04061,HG04062,HG04070,HG04100,HG04144,HG04173,HG04177,HG04180,HG04182,HG04185,HG04189,HG04225,HG04227,NA18526,NA18528,NA18530,NA18532,NA18548,NA18550,NA18558,NA18564,NA18570,NA18572,NA18611,NA18619,NA18620,NA18622,NA18623,NA18624,NA18627,NA18635,NA18636,NA18757,NA18949,NA18956,NA18959,NA18965,NA18971,NA18979,NA18980,NA19010,NA19054,NA19060,NA19066,NA19072,NA19074,NA19079,NA19080,NA19083,NA19085,NA19088,NA19443,NA19649,NA19657,NA19664,NA19681,NA19682,NA19723,NA19729,NA19731,NA19735,NA19755,NA19758,NA19762,NA19770,NA19777,NA19786,NA19794,NA19795,NA20845,NA20849,NA20850,NA20851,NA20853,NA20859,NA20861,NA20863,NA20868,NA20874,NA20875,NA20876,NA20882,NA20889,NA20895,NA20908,NA21086,NA21091,NA21093,NA21095,NA21098,NA21100,NA21103,NA21108,NA21110,NA21114,NA21117,NA21119,NA21120,NA21122,NA21123,NA21126,NA21127,NA21129,NA21130,NA21135,NA21141,NA21142 nsv4746404 1 9846401 9856461 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16292609 M 25 0 1 CLSTN1 esv2743630 1 9846472 9856680 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6816573,essv6766533,essv6748242,essv6804396,essv6698597,essv6738802,essv6816665,essv6742130,essv6913992,essv6714235,essv6961542,essv6972326,essv6679159,essv6747767,essv6876687 M 96 0 15 CLSTN1 SSM001,SSM008,SSM010,SSM012,SSM016,SSM027,SSM029,SSM033,SSM043,SSM052,SSM053,SSM056,SSM064,SSM074,SSM078 dgv11n67 1 9846555 9857371 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv827475,nsv827586,nsv827697 M 31 0 4 CLSTN1 NA18526,NA18564,NA18570,NA18949 nsv6318253 1 9846559 9851158 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065754 M 19652 0 1 CLSTN1 nsv5571413 1 9846650 9856690 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17068274 M 35 0 1 CLSTN1 HG00513 nsv5874280 1 9846650 9856690 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17395357 M 914 0 1 CLSTN1 nsv498662 1 9846650 9856696 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585382 M 9 0 1 CLSTN1 nsv6327464 1 9846653 9856682 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065755 M 19652 0 1 CLSTN1 nsv3205021 1 9846654 9856667 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14322114 M 9 0 1 CLSTN1 HG00513 nsv5421886 1 9846654 9856669 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891239 M 3202 0 1 CLSTN1 nsv4035229 1 9846654 9856684 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856243 M 10847 0 1 CLSTN1 esv2669918 1 9846654 9856699 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6071153,essv5512061,essv5834659,essv5990582,essv6373017,essv5988798,essv5923115,essv5731939,essv6069091,essv6235297,essv5931310,essv5530245,essv6112364,essv5746601,essv6265102,essv5811060,essv5845659,essv5888817,essv6204692,essv6481244,essv5893923,essv5548943,essv5834532,essv6003916,essv6368303,essv6404227,essv5440005,essv6349803,essv6393642,essv5926048,essv6023646,essv5789363,essv6452807,essv5424404,essv5628746,essv5521177,essv5432791,essv5830820,essv6161342,essv6020100,essv6597647,essv5462473,essv5893909,essv5839652,essv5825339,essv6349005,essv5455284,essv5819439,essv5900305,essv6204173,essv6015122,essv5451602,essv5549078,essv6321976,essv6221622,essv6207730,essv5617550,essv6384429,essv6457439,essv5505390,essv5714073,essv6563862 M 1151 0 62 CLSTN1 HG00171,HG00353,HG00422,HG00449,HG00501,HG00513,HG00533,HG00536,HG00537,HG00559,HG00560,HG00592,HG00614,HG00628,HG00629,HG00651,HG00654,HG00672,HG00683,HG00684,HG00689,HG00699,HG00707,HG01048,HG01101,HG01360,HG01462,HG01495,NA18530,NA18548,NA18550,NA18558,NA18572,NA18576,NA18611,NA18619,NA18620,NA18622,NA18623,NA18624,NA18635,NA18636,NA19010,NA19054,NA19060,NA19066,NA19072,NA19074,NA19079,NA19080,NA19083,NA19085,NA19088,NA19371,NA19443,NA19657,NA19664,NA19681,NA19682,NA19723,NA19731,NA19777 dgv5n172 1 9846655 9856757 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4433208,nsv4433207,nsv4433209,nsv4433206,nsv4433205 M 15 0 5 CLSTN1 NB07,NB08,NB09,NB10,NB12 nsv5985061 1 9846725 9856462 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535478 M 405 0 1 CLSTN1 nsv5831139 1 9846834 9854935 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482517 M 914 0 0 CLSTN1 nsv6318566 1 9846922 9847460 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065756 M 19652 0 1 CLSTN1 dgv102n54 1 9847032 9856687 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545378,nsv545379 M 17421 0 2 CLSTN1 dgv14e212 1 9849094 9855709 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577724,esv3577726 M 873 0 4 CLSTN1 400411TG,400553PP,400739SS,401952UH nsv3114337 1 9849536 9858798 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14098937 M 467 0 1 CLSTN1 sample35 nsv4048920 1 9850391 9851201 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856257 M 10847 0 1 CLSTN1 nsv4462525 1 9850868 9850869 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025465 M 10847 1 0 CLSTN1 nsv5985139 1 9852011 9852091 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521088 M 405 0 1 CLSTN1 nsv6335548 1 9855277 9861666 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202128 M 19652 1 0 CLSTN1 nsv5421513 1 9856256 9856678 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891250 M 3202 0 1 CLSTN1 nsv4033599 1 9857000 9862000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965392 M 10847 1 0 CLSTN1 nsv1137727 1 9858183 9858235 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990235 M 2 0 1 CLSTN1 KWS2 esv3655932 1 9859500 9859500 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479542 M 20 1 0 CLSTN1 nsv6316062 1 9860464 9866576 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065781 M 19652 0 1 CLSTN1 nsv4035609 1 9860470 9869468 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965393 M 10847 1 0 CLSTN1 nsv5886596 1 9860671 9864407 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17402344 M 914 0 1 CLSTN1 nsv5830860 1 9861209 9864008 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17481606 M 914 0 0 CLSTN1 esv3649643 1 9864349 9864420 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16473882 M 20 0 0 CLSTN1 nsv4039500 1 9864675 9880636 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856264 M 10847 0 1 CLSTN1 nsv4045461 1 9865783 9870340 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856272 M 10847 0 1 CLSTN1 nsv5424511 1 9867953 9868069 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683663 M 3202 1 0 CLSTN1 nsv4759379 1 9870098 9870098 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16281431 M 25 1 0 CLSTN1 nsv3541516 1 9870191 9870191 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375092 M 9 1 0 CLSTN1 NA19240 nsv3531876 1 9870199 9870199 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412705,nssv14441209 M 9 2 0 CLSTN1 HG00514,HG00733 nsv3940794 1 9870199 9870199 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192087 M 1 1 0 CLSTN1 HG002 nsv5604961 1 9870199 9870199 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067182 M 35 1 0 CLSTN1 HG00731 nsv6040925 1 9870199 9870199 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522772 M 405 1 0 CLSTN1 nsv2801739 1 9870200 9870200 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13710147 M 2 1 0 CLSTN1 nsv3324911 1 9870200 9870200 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479182,nssv14473254,nssv14474122,nssv14473957,nssv14478004,nssv14478967,nssv14488065,nssv14483619,nssv14485324,nssv14488338,nssv14477381,nssv14487922,nssv14485317,nssv14476792 M 14 14 0 CLSTN1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv5535056 1 9870200 9870229 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891270 M 3202 1 0 CLSTN1 esv2669984 1 9870710 9873100 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6394000 M 1151 0 1 CLSTN1 NA20810 nsv5424136 1 9870740 9873130 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891282 M 3202 0 1 CLSTN1 nsv6328050 1 9870752 9873192 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065229 M 19652 0 1 CLSTN1 nsv5830557 1 9871921 9874020 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482524 M 914 0 0 CLSTN1 nsv4042984 1 9874812 9875254 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856282 M 10847 0 1 CLSTN1 nsv4043250 1 9877799 9881213 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856590 M 10847 0 1 CLSTN1 nsv5878760 1 9887223 9888378 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17403201 M 914 0 1 "" nsv5985062 1 9890554 9892293 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534910 M 405 0 1 "" esv3585189 1 9891824 9892736 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851612 M 2504 0 1 "" HG02537 nsv5415583 1 9891858 9892632 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891290 M 3202 0 1 "" nsv6323934 1 9891858 9892632 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065876 M 19652 0 1 "" nsv4517569 1 9891878 9892669 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965395 M 10847 1 0 "" nsv5985472 1 9892217 9893380 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533659 M 405 0 1 "" esv3656047 1 9892961 9892961 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479646 M 20 1 0 "" nsv6328628 1 9893116 9898279 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065878 M 19652 0 1 "" nsv4034055 1 9893117 9898306 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856614 M 10847 0 1 "" nsv5418762 1 9898340 9898664 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891291 M 3202 0 1 "" nsv5882268 1 9898349 9898672 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17393727 M 914 0 1 "" nsv5572074 1 9906836 9906886 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067186 M 35 0 1 "" HG03125 nsv5875014 1 9906836 9906886 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17390583 M 914 0 1 "" nsv5677776 1 9907429 9907429 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17221849 M 3202 1 0 "" nsv5406966 1 9907429 9907480 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891292 M 3202 1 0 "" nsv4034888 1 9911249 9912121 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856620 M 10847 0 1 CTNNBIP1 nsv545380 1 9918183 9987007 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709715 M 17421 0 1 CTNNBIP1 nsv6319709 1 9932529 9937637 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065925 M 19652 0 1 CTNNBIP1 nsv6316307 1 9935424 9942130 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065929 M 19652 0 1 CTNNBIP1 nsv4046361 1 9945623 9948247 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856639 M 10847 0 1 CTNNBIP1 nsv4463137 1 9946155 9946156 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025475 M 10847 1 0 CTNNBIP1 nsv5678355 1 9946171 9946171 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17221402,nssv17203615 M 3202 2 0 CTNNBIP1 nsv5398337 1 9946171 9946222 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891294 M 3202 1 0 CTNNBIP1 nsv5985242 1 9951779 9963304 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531149 M 405 0 1 CTNNBIP1 nsv6553526 1 9955577 9956486 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252806 M 19652 0 0 CTNNBIP1 nsv6322116 1 9956712 9957998 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202136 M 19652 1 0 CTNNBIP1 nsv5416014 1 9958123 9958240 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891295 M 3202 0 1 CTNNBIP1 nsv6323858 1 9958217 9964909 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065959 M 19652 0 1 CTNNBIP1 nsv4744322 1 9958425 9959660 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278991 M 25 0 1 CTNNBIP1 nsv6327137 1 9961543 10122905 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202138 M 19652 1 0 CTNNBIP1,LZIC,NMNAT1,RBP7,UBE4B nsv6329993 1 9963025 9968567 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065966 M 19652 0 1 CTNNBIP1 nsv6042163 1 9968025 9968025 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536960 M 405 1 0 CTNNBIP1 nsv6335441 1 9968659 9970758 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18065977 M 19652 0 1 CTNNBIP1 nsv1112518 1 9970100 9970400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966618 M 2 0 1 CTNNBIP1 KWS2 nsv1001742 1 9971776 10116767 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481106 M 11257 1 0 LZIC,NMNAT1,RBP7,UBE4B esv2676301 1 9975537 9980263 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6535570 M 1151 0 1 "" HG00607 esv3585191 1 9975577 9980237 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851625 M 2504 0 1 "" HG00607 nsv5414431 1 9975713 9980206 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891296 M 3202 0 1 "" nsv5416921 1 9975949 9976264 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891297 M 3202 0 1 "" nsv5985474 1 9979222 9979325 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523262 M 405 0 1 "" nsv4535299 1 9982031 9982032 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025484 M 10847 1 0 "" nsv6324487 1 9984527 9987774 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066150 M 19652 0 1 "" nsv5425754 1 9985987 9987820 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891298 M 3202 0 1 "" nsv6544602 1 9987612 9988692 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252812 M 19652 0 0 "" nsv3326026 1 9988141 9988195 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14473209 M 14 0 1 "" HG01352 nsv6554826 1 9991620 9992640 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252813 M 19652 0 0 LZIC nsv4050403 1 9992157 9995210 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856647 M 10847 0 1 LZIC nsv5876485 1 9993187 9994160 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17404388 M 914 0 1 LZIC nsv6546898 1 9997178 9999368 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252814 M 19652 0 0 LZIC nsv6548533 1 9997643 9998388 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252815 M 19652 0 0 LZIC nsv5422398 1 10012888 10013747 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891300 M 3202 0 1 NMNAT1 nsv6326505 1 10013325 10023005 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066181 M 19652 0 1 NMNAT1 nsv6545396 1 10013912 10015392 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252817 M 19652 0 0 NMNAT1 nsv6321687 1 10014549 10016596 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066183 M 19652 0 1 NMNAT1 nsv6554616 1 10014988 10016330 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252818 M 19652 0 0 NMNAT1 nsv4045005 1 10015178 10029622 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856656 M 10847 0 1 NMNAT1 nsv6542107 1 10015485 10016736 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252819 M 19652 0 0 NMNAT1 nsv5830863 1 10016496 10025379 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482538 M 914 0 0 NMNAT1 nsv6324659 1 10016884 10042016 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202142 M 19652 1 0 NMNAT1 nsv5883552 1 10017342 10017603 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17392465 M 914 0 1 NMNAT1 nsv4043367 1 10018678 10025641 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965396 M 10847 1 0 NMNAT1 dgv17n209 1 10019605 10021804 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5831146,nsv5831145 M 914 0 0 NMNAT1 nsv4744817 1 10022402 10022467 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16280906 M 25 0 1 NMNAT1 nsv5985144 1 10022813 10023002 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531369 M 405 0 1 NMNAT1 nsv6546956 1 10023621 10024989 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252820 M 19652 0 0 NMNAT1 nsv6539754 1 10023983 10024571 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252821 M 19652 0 0 NMNAT1 nsv5830560 1 10024305 10025804 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17482541,nssv17482542 M 914 0 0 NMNAT1 nsv6330263 1 10025187 10028637 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066188 M 19652 0 1 NMNAT1 nsv4035880 1 10028127 10058508 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965397 M 10847 1 0 NMNAT1,RBP7 esv3669460 1 10028609 10028609 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491718 M 20 1 0 NMNAT1 nsv3524492 1 10028609 10028609 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441210,nssv14412706,nssv14377753 M 9 3 0 NMNAT1 HG00514,HG00733,NA19240 nsv3930293 1 10028609 10028609 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192088 M 1 1 0 NMNAT1 HG002 nsv4444596 1 10028609 10028609 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765978 M 1 1 0 NMNAT1 nsv5551417 1 10028609 10028609 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891301 M 3202 1 0 NMNAT1 nsv5622365 1 10028609 10028609 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17067428 M 35 1 0 NMNAT1 HG00731 nsv5965006 1 10028609 10028609 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17401566 M 914 1 0 NMNAT1 nsv6057472 1 10028609 10028609 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519102 M 405 1 0 NMNAT1 nsv2802634 1 10028610 10028610 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13711299 M 2 1 0 NMNAT1 nsv3326290 1 10028610 10028610 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14486688,nssv14474350,nssv14480554,nssv14482841,nssv14487114,nssv14491331,nssv14483564,nssv14480110,nssv14487446 M 14 9 0 NMNAT1 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,NA12878,NA19240 nsv4768188 1 10028614 10028614 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16281957 M 25 1 0 NMNAT1 nsv3064170 1 10028617 10028617 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14037162 M 2 1 0 NMNAT1 NA12878 nsv6041625 1 10028641 10028641 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529428 M 405 1 0 NMNAT1 nsv4042012 1 10029000 10041000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856666 M 10847 0 1 NMNAT1 nsv4039222 1 10029726 10030664 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965398 M 10847 1 0 NMNAT1 nsv6551235 1 10032708 10034190 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252824 M 19652 0 0 NMNAT1 nsv5877686 1 10033482 10033798 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17409198 M 914 0 1 NMNAT1 nsv6329329 1 10033568 10039669 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202148 M 19652 1 0 NMNAT1 nsv3525672 1 10033724 10033968 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14320951,nssv14320950,nssv14320954,nssv14320949,nssv14320952,nssv14320953 M 9 0 6 NMNAT1 HG00513,HG00514,HG00732,HG00733,NA19239,NA19240 nsv6319759 1 10034720 10042174 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066195 M 19652 0 1 NMNAT1 nsv4044152 1 10036195 10043543 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856673 M 10847 0 1 NMNAT1 nsv4038281 1 10036294 10043744 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965399 M 10847 1 0 NMNAT1 nsv4042183 1 10036621 10036721 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965400 M 10847 1 0 NMNAT1 nsv6051696 1 10036640 10036640 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527009 M 405 1 0 NMNAT1 nsv4052376 1 10038327 10047569 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856683 M 10847 0 1 NMNAT1 nsv6544106 1 10039408 10040234 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252825 M 19652 0 0 NMNAT1 nsv5874832 1 10040241 10040964 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17408246 M 914 0 1 NMNAT1 nsv6541576 1 10041546 10042889 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252826 M 19652 0 0 NMNAT1 nsv4564910 1 10042235 10042236 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025493 M 10847 1 0 NMNAT1 nsv5985249 1 10043598 10043652 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526461 M 405 0 1 NMNAT1 nsv6325408 1 10044227 10045789 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066200 M 19652 0 1 NMNAT1 nsv6318784 1 10047630 10052832 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066203 M 19652 0 1 "" nsv4041673 1 10047644 10052832 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856693 M 10847 0 1 "" nsv1133808 1 10048174 10048237 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969379 M 2 0 1 "" KWS2 nsv6323263 1 10052429 10064563 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18066209 M 19652 0 1 RBP7 nsv4051728 1 10052667 10063203 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856703 M 10847 0 1 RBP7 nsv5426339 1 10052688 10063203 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891304 M 3202 0 1 RBP7 esv2667343 1 10052695 10063265 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6049608 M 1151 0 1 RBP7 HG01366 esv3585192 1 10052713 10063234 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851626 M 2504 0 1 RBP7 HG01366 nsv5426969 1 10059333 10060137 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891306 M 3202 1 0 RBP7 nsv6328378 1 10059387 10060068 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202152 M 19652 1 0 RBP7 nsv6537440 1 10060195 10060979 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249173 M 19652 0 0 RBP7 nsv4044290 1 10061000 10066000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856719 M 10847 0 1 RBP7 nsv5429178 1 10062807 10063406 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891307 M 3202 0 1 RBP7 nsv4458661 1 10063049 10063050 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025502 M 10847 1 0 RBP7 nsv6546593 1 10063236 10064004 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249175 M 19652 0 0 RBP7 nsv6329149 1 10067027 10068688 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049563 M 19652 0 1 RBP7 esv2671412 1 10067122 10068790 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5525821,essv6220396 M 1151 0 2 RBP7 NA19818,NA19835 nsv5827869 1 10067166 10068665 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465066 M 914 0 0 RBP7 esv3585193 1 10067190 10068675 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851639,essv9851627,essv9851638,essv9851636,essv9851632,essv9851640,essv9851634,essv9851637,essv9851631,essv9851635,essv9851629,essv9851630,essv9851628,essv9851633 M 2504 0 14 RBP7 HG01551,HG02703,HG02836,HG02870,HG02887,HG03294,HG03372,HG03410,HG03499,NA19072,NA19818,NA19835,NA20332,NA20351 nsv5878597 1 10067192 10068686 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363637 M 914 0 1 RBP7 nsv5419685 1 10067199 10068656 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891309 M 3202 0 1 RBP7 nsv4049311 1 10067200 10068658 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855421 M 10847 0 1 RBP7 nsv6332984 1 10067268 10117133 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200284 M 19652 1 0 RBP7,UBE4B nsv5421670 1 10067940 10072151 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891311 M 3202 0 1 RBP7 esv2664618 1 10067981 10072312 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5774562 M 1151 0 1 RBP7 HG00641 nsv6326388 1 10068045 10072262 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049564 M 19652 0 1 RBP7 esv3585194 1 10068048 10072196 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851641 M 2504 0 1 RBP7 HG00641 nsv3526132 1 10068403 10068788 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14322564,nssv14322569,nssv14322567,nssv14322568,nssv14322571,nssv14322565,nssv14322566,nssv14322570 M 9 0 8 RBP7 HG00512,HG00513,HG00514,HG00732,HG00733,NA19238,NA19239,NA19240 dgv9n206 1 10069255 10076564 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nsv5415321,nsv5426467 M 3202 2 0 RBP7 nsv6542589 1 10069343 10069684 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249179 M 19652 0 0 RBP7 nsv4034637 1 10070365 10076555 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965401 M 10847 1 0 RBP7 nsv6334461 1 10070369 10076545 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200285 M 19652 1 0 RBP7 nsv5887372 1 10070376 10076535 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17353935 M 914 1 0 RBP7 nsv6543044 1 10070620 10072330 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249180 M 19652 0 0 RBP7 nsv5881553 1 10072319 10078172 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369005 M 914 0 1 RBP7 nsv6550387 1 10072903 10073396 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249181 M 19652 0 0 RBP7 esv3336969 1 10072964 10072964 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740981 M 185 1 0 RBP7 NA19240 nsv5885828 1 10073303 10074616 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17362964 M 914 1 0 RBP7 nsv5827870 1 10073310 10076209 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468056,nssv17467858 M 914 0 0 RBP7 nsv6331186 1 10074659 10076358 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200286 M 19652 1 0 RBP7 nsv6044275 1 10076344 10076344 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518813 M 405 1 0 "" nsv4036834 1 10076346 10077293 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855431 M 10847 0 1 "" nsv6333627 1 10077083 10079017 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049569 M 19652 0 1 "" nsv6329905 1 10077317 10079471 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200287 M 19652 1 0 "" nsv4033828 1 10077324 10079469 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965402 M 10847 1 0 "" nsv5427328 1 10077353 10079406 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891314 M 3202 1 0 "" nsv6319647 1 10083252 10086206 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049572 M 19652 0 1 "" nsv4051360 1 10089572 10089627 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855441 M 10847 0 1 "" esv3577728 1 10090712 10102999 CNV loss Uddin_et_al_2014 25503493 SNP array essv9796199 M 873 0 1 UBE4B 400547BS nsv6323819 1 10091219 10091977 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049576 M 19652 0 1 "" nsv6332797 1 10092559 10093158 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049578 M 19652 0 1 UBE4B nsv527217 1 10093457 10257167 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv703617 M 2026 1 0 UBE4B nsv6043206 1 10095359 10095359 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520147 M 405 1 0 UBE4B dgv22n166 1 10095610 10103661 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4044592,nsv4043614 M 10847 0 2 UBE4B nsv5980463 1 10095845 10097124 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523180 M 405 0 1 UBE4B nsv6332403 1 10095859 10104858 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049580 M 19652 0 1 UBE4B dgv12e199 1 10095936 10103825 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2671667,esv2663179 M 1151 0 2 UBE4B HG00139,NA11892 nsv5428045 1 10096034 10103703 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891315 M 3202 0 1 UBE4B esv3585195 1 10096652 10102949 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851643,essv9851642 M 2504 0 2 UBE4B HG00139,NA11892 dgv15e212 1 10097007 10102999 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577730,esv3577729,esv3577731 M 873 0 3 UBE4B 401251WN,401589HP,402048WB nsv6332039 1 10097192 10100691 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049581 M 19652 0 1 UBE4B nsv5427720 1 10099733 10101922 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891316 M 3202 0 1 UBE4B nsv5886597 1 10100750 10101466 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353770 M 914 0 1 UBE4B nsv5427931 1 10101879 10103592 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891317 M 3202 0 1 UBE4B nsv6319442 1 10101898 10103592 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049586 M 19652 0 1 UBE4B nsv6331704 1 10104546 10113844 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200292 M 19652 1 0 UBE4B nsv5430807 1 10108703 10108778 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891318 M 3202 0 1 UBE4B nsv6254255 1 10109439 10109439 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17855734 M 1021 1 0 UBE4B nsv945766 1 10112529 10115229 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754796,nssv1754878,nssv1754801,nssv1754837,nssv1754816,nssv1754881,nssv1754810,nssv1754846,nssv1754868,nssv1754852,nssv1754821,nssv1754885,nssv1754824,nssv1754853,nssv1754807,nssv1754877,nssv1754794,nssv1754828,nssv1754809,nssv1754831,nssv1754819,nssv1754850,nssv1754867,nssv1754862,nssv1754870,nssv1754845,nssv1754817,nssv1754835,nssv1754800,nssv1754861,nssv1754813,nssv1754834,nssv1754826,nssv1754829,nssv1754812,nssv1754847,nssv1754802,nssv1754840,nssv1754797,nssv1754858,nssv1754804,nssv1754865,nssv1754811,nssv1754860,nssv1754823,nssv1754827,nssv1754803,nssv1754849,nssv1754822,nssv1754833,nssv1754805,nssv1754859,nssv1754814,nssv1754841,nssv1754818,nssv1754843,nssv1754875,nssv1754864,nssv1754793,nssv1754855,nssv1754866,nssv1754882,nssv1754820,nssv1754842,nssv1754795,nssv1754876,nssv1754815,nssv1754856,nssv1754806,nssv1754848,nssv1754789,nssv1754863,nssv1754808,nssv1754839,nssv1754873,nssv1754884,nssv1754871,nssv1754857,nssv1754825,nssv1754830,nssv1754872,nssv1754838,nssv1754869,nssv1754844,nssv1754799,nssv1754879,nssv1754791,nssv1754836,nssv1754790,nssv1754851,nssv1754798,nssv1754854,nssv1754874,nssv1754880,nssv1754792,nssv1754883,nssv1754832 M 97 10 0 UBE4B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5868484 1 10113245 10113550 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350512 M 914 0 1 UBE4B nsv4458556 1 10116430 10116431 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025513 M 10847 1 0 UBE4B nsv3523121 1 10119288 10119288 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382031 M 9 1 0 UBE4B NA19240 nsv5612211 1 10119288 10119288 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060063 M 35 1 0 UBE4B NA19238 nsv4533944 1 10119288 10119289 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023702 M 10847 1 0 UBE4B nsv3319224 1 10119289 10119289 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14475492 M 14 1 0 UBE4B NA19240 nsv5542902 1 10119303 10119340 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891324 M 3202 1 0 UBE4B nsv522629 1 10125765 10239197 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv706027 M 2026 1 0 UBE4B nsv5878478 1 10127867 10128167 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365644 M 914 0 1 UBE4B nsv5980464 1 10136536 10146755 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523857 M 405 0 1 UBE4B nsv5827872 1 10136772 10139171 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461096 M 914 0 0 UBE4B nsv5429438 1 10136815 10139262 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891346 M 3202 1 0 UBE4B nsv5428739 1 10146063 10146157 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891356 M 3202 0 1 UBE4B nsv6320574 1 10146277 10146978 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200296 M 19652 1 0 UBE4B nsv6332191 1 10149765 10153760 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200297 M 19652 1 0 UBE4B esv3656150 1 10152512 10152512 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479739 M 20 1 0 UBE4B esv3890748 1 10153153 10230506 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25787927 M 3017 1 0 UBE4B nsv6554244 1 10157566 10158222 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249201 M 19652 0 0 UBE4B nsv6552215 1 10159025 10160196 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249202 M 19652 0 0 UBE4B nsv5691008 1 10159480 10159480 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17215440 M 3202 1 0 UBE4B esv3544010 1 10161480 10161553 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9742757 M 767 0 1 UBE4B nsv4040554 1 10161482 10161553 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856305 M 10847 0 1 UBE4B nsv5424339 1 10161482 10161554 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891367 M 3202 0 1 UBE4B nsv5722584 1 10162239 10162239 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17242940 M 3202 1 0 UBE4B nsv5559532 1 10162239 10162290 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891369 M 3202 1 0 UBE4B nsv5881672 1 10163935 10164068 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366889 M 914 0 1 UBE4B nsv5980538 1 10164795 10164900 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534496 M 405 0 1 UBE4B nsv6334423 1 10167838 10168179 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049647 M 19652 0 1 UBE4B nsv6319263 1 10168922 10175383 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050243 M 19652 0 1 UBE4B nsv6543445 1 10171766 10172594 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249204 M 19652 0 0 UBE4B nsv5424810 1 10176294 10176398 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891370 M 3202 1 0 UBE4B nsv6540377 1 10178960 10180431 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249207 M 19652 0 0 UBE4B nsv5685444 1 10179897 10179897 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17215258 M 3202 1 0 UBE4B nsv5404983 1 10179913 10179948 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891371 M 3202 1 0 UBE4B nsv6539340 1 10180902 10183842 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249211 M 19652 0 0 UBE4B nsv6540833 1 10183417 10184184 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249212 M 19652 0 0 UBE4B nsv6543112 1 10183486 10183833 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249213 M 19652 0 0 UBE4B nsv6538283 1 10189890 10191575 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249215 M 19652 0 0 UBE4B nsv6317208 1 10191327 10191801 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200302 M 19652 1 0 UBE4B nsv5980541 1 10193899 10194494 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529176 M 405 0 1 UBE4B nsv4044204 1 10193903 10194453 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856316 M 10847 0 1 UBE4B nsv5423950 1 10193903 10194494 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891372 M 3202 0 1 UBE4B nsv5547883 1 10195392 10195406 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891373 M 3202 1 0 UBE4B esv2668231 1 10195645 10196153 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6424150,essv5937528,essv5749006,essv5671433,essv6456159,essv6380147,essv6385363,essv6078091,essv5668584,essv5784275,essv6120065,essv6203017,essv5905869,essv5651943,essv6164323,essv6159229,essv6392345,essv6165979,essv6585488,essv5914513,essv6497289 M 1151 0 21 UBE4B HG00428,NA12003,NA12717,NA18488,NA18522,NA18533,NA18563,NA18593,NA18856,NA19004,NA19085,NA19107,NA19189,NA19235,NA19472,NA19473,NA19701,NA19834,NA19982,NA20503,NA20765 nsv525216 1 10195940 10200574 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv701302 M 2026 1 0 UBE4B nsv6552245 1 10199171 10200080 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249218 M 19652 0 0 UBE4B nsv5427507 1 10207339 10207483 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891374 M 3202 0 1 UBE4B esv3656211 1 10213547 10213547 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479794 M 20 1 0 UBE4B nsv6538410 1 10227243 10227846 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18246980 M 19652 0 0 UBE4B esv2562286 1 10230395 10231752 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5304967 M 1 0 1 UBE4B NA18507 nsv5428584 1 10234416 10235669 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891375 M 3202 0 1 UBE4B nsv4517227 1 10234434 10235657 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856339 M 10847 0 1 UBE4B nsv6317123 1 10234559 10235658 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050023 M 19652 0 1 UBE4B nsv5417709 1 10234641 10235590 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891376 M 3202 1 0 UBE4B nsv6318771 1 10234641 10235590 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200305 M 19652 1 0 UBE4B nsv5980618 1 10234695 10235643 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520948 M 405 0 1 UBE4B nsv6334635 1 10235509 10237304 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050025 M 19652 0 1 UBE4B nsv1145319 1 10237347 10237399 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982413 M 2 0 1 UBE4B KWS1 esv2758920 1 10238070 10582554 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757722 M 270 1 2 APITD1,APITD1-CORT,CORT,DFFA,KIF1B,PEX14,PGD,UBE4B NA18912,NA18965,NA19130 nsv4518060 1 10240869 10241249 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856359 M 10847 0 1 UBE4B nsv5418523 1 10241631 10241950 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891377 M 3202 0 1 "" nsv4042295 1 10242171 10253900 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856369 M 10847 0 1 "" nsv3531590 1 10243731 10243731 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388072 M 9 1 0 "" NA19240 nsv3217869 1 10243731 10250850 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14269759,nssv14269760 M 9 2 0 "" HG00514,NA19240 nsv6331092 1 10243777 10262403 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050042 M 19652 0 1 "" nsv6328735 1 10244359 10251858 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050043 M 19652 0 1 "" nsv6536110 1 10244665 10248341 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18246983 M 19652 0 0 "" dgv10n206 1 10244879 10252348 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nsv5415744,nsv5430036,nsv5431126 M 3202 0 3 "" esv3585196 1 10245266 10250945 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851644 M 2504 0 1 "" HG02561 nsv4051694 1 10245466 10250816 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856760 M 10847 0 1 "" nsv5429738 1 10247314 10247548 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891381 M 3202 1 0 "" nsv5425573 1 10247430 10248270 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891382 M 3202 0 1 "" nsv5879387 1 10247579 10250890 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364809 M 914 0 1 "" nsv5568558 1 10247595 10248325 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059650 M 35 0 1 "" HG02492 nsv5871944 1 10247595 10248325 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362049 M 914 0 1 "" nsv3319663 1 10247596 10248326 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477269 M 14 0 1 "" HG00268 nsv4047781 1 10247596 10248326 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856776 M 10847 0 1 "" nsv512718 1 10247608 10248075 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625342 M 1 1 0 "" 1 nsv5421400 1 10247638 10250938 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891383 M 3202 0 1 "" nsv4040770 1 10247639 10253987 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856785 M 10847 0 1 "" nsv4759097 1 10247641 10247641 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288663 M 25 1 0 "" nsv4034866 1 10247649 10249399 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856795 M 10847 0 1 "" nsv5422965 1 10247649 10249399 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891384 M 3202 0 1 "" nsv3538572 1 10247652 10247652 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412708 M 9 1 0 "" HG00514 nsv3538500 1 10247662 10247662 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385742 M 9 1 0 "" NA19240 nsv2800541 1 10247663 10247663 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680132 M 2 1 0 "" nsv3319232 1 10247663 10247663 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472969,nssv14486729,nssv14473229,nssv14472727,nssv14475690,nssv14478549,nssv14482759 M 14 7 0 "" CHM1,CHM13,HG00733,HG01352,HG02059,HG02818,HX1 nsv3542604 1 10247680 10247680 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441211 M 9 1 0 "" HG00733 nsv2800398 1 10247683 10247683 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680620 M 2 1 0 "" nsv5617823 1 10247683 10247683 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059649 M 35 1 0 "" HG00512 nsv5885925 1 10247683 10247802 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364405 M 914 0 1 "" nsv5619135 1 10247697 10247697 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059648 M 35 1 0 "" HG00731 nsv3319447 1 10247713 10247713 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486660,nssv14483542,nssv14483464,nssv14486484,nssv14483837,nssv14476493 M 14 6 0 "" CHM1,CHM13,HG01352,HG02059,HG02818,HX1 nsv3535343 1 10247732 10247732 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412709 M 9 1 0 "" HG00514 nsv2799661 1 10247733 10247733 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678898 M 2 1 0 "" nsv3319019 1 10247733 10247733 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481172,nssv14490844,nssv14491004,nssv14490120,nssv14491034,nssv14489274 M 14 6 0 "" CHM13,HG00733,HG01352,HG02059,HG02818,HX1 nsv3533590 1 10247738 10247738 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412710 M 9 1 0 "" HG00514 nsv3534514 1 10247749 10247749 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441212 M 9 1 0 "" HG00733 nsv6047695 1 10247752 10247752 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534379 M 405 1 0 "" nsv3534411 1 10247825 10247825 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412711 M 9 1 0 "" HG00514 nsv3319020 1 10247877 10247877 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472534 M 14 1 0 "" CHM1 nsv5613390 1 10247879 10247879 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059647 M 35 1 0 "" NA19238 nsv3319664 1 10247937 10247937 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477122 M 14 1 0 "" CHM1 nsv2800302 1 10247939 10247939 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678572 M 2 1 0 "" nsv6040623 1 10247951 10247951 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525573 M 405 1 0 "" nsv5609366 1 10248020 10248020 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059645,nssv17059646 M 35 2 0 "" HG00513,HG00514 nsv3319448 1 10248041 10248041 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489042,nssv14473987,nssv14488327,nssv14473056,nssv14483878 M 14 5 0 "" CHM1,CHM13,HG00733,HG02059,HX1 nsv3540304 1 10248043 10248043 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441213 M 9 1 0 "" HG00733 nsv6051666 1 10248047 10248047 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526539 M 405 1 0 "" nsv3319665 1 10248050 10248050 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488238 M 14 1 0 "" HG02059 nsv3319449 1 10248065 10248065 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484528,nssv14477862,nssv14474438,nssv14489418,nssv14483930 M 14 5 0 "" CHM1,CHM13,HG00733,HG02059,HX1 nsv3540867 1 10248065 10248065 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412712 M 9 1 0 "" HG00514 nsv2800303 1 10248068 10248068 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692686 M 2 1 0 "" nsv2800542 1 10248072 10248072 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692909 M 2 1 0 "" nsv5584280 1 10248095 10248157 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059644 M 35 0 1 "" HG03486 nsv2800543 1 10248111 10248111 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692738 M 2 1 0 "" nsv3319666 1 10248115 10248115 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490338 M 14 1 0 "" CHM1 nsv3535893 1 10248115 10248115 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441214 M 9 1 0 "" HG00733 nsv5609669 1 10248141 10248141 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059611 M 35 1 0 "" HG00732 nsv3933353 1 10248151 10248151 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192089 M 1 1 0 "" HG002 nsv5615529 1 10248151 10248151 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059612 M 35 1 0 "" HG00731 nsv6052793 1 10248151 10248151 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535972 M 405 1 0 "" nsv2800544 1 10248154 10248154 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693664 M 2 1 0 "" nsv3319021 1 10248154 10248154 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491312 M 14 1 0 "" CHM13 nsv3319022 1 10248167 10248167 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479870,nssv14477379,nssv14477722,nssv14488356,nssv14489311,nssv14483775 M 14 6 0 "" CHM1,CHM13,HG00733,HG02059,HG02818,HX1 nsv3537539 1 10248175 10248175 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412713 M 9 1 0 "" HG00514 nsv3542650 1 10248209 10248209 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441215 M 9 1 0 "" HG00733 nsv5612877 1 10248377 10248377 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059613 M 35 1 0 "" HG02011 nsv5615075 1 10248469 10248469 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059614 M 35 1 0 "" HG00171 esv3656291 1 10248639 10248639 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479866 M 20 1 0 "" nsv5414145 1 10249493 10252126 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891387 M 3202 0 1 "" esv3585197 1 10249536 10252077 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851705,essv9851711,essv9851667,essv9851704,essv9851718,essv9851687,essv9851706,essv9851709,essv9851672,essv9851714,essv9851685,essv9851712,essv9851696,essv9851713,essv9851694,essv9851708,essv9851681,essv9851707,essv9851689,essv9851715,essv9851691,essv9851710,essv9851669,essv9851716,essv9851690,essv9851717,essv9851697,essv9851719,essv9851680,essv9851646,essv9851676,essv9851645,essv9851678,essv9851647,essv9851692,essv9851648,essv9851673,essv9851720,essv9851675,essv9851733,essv9851686,essv9851721,essv9851679,essv9851724,essv9851665,essv9851726,essv9851700,essv9851730,essv9851668,essv9851725,essv9851702,essv9851732,essv9851670,essv9851731,essv9851684,essv9851723,essv9851671,essv9851722,essv9851701,essv9851728,essv9851695,essv9851729,essv9851682,essv9851727,essv9851683,essv9851664,essv9851699,essv9851653,essv9851666,essv9851662,essv9851674,essv9851654,essv9851698,essv9851652,essv9851703,essv9851651,essv9851693,essv9851656,essv9851688,essv9851659,essv9851677,essv9851658,essv9851663,essv9851650,essv9851660,essv9851649,essv9851655,essv9851657,essv9851661 M 2504 0 89 "" HG01140,HG01205,HG01348,HG01455,HG01882,HG01885,HG01889,HG01890,HG01896,HG01914,HG02012,HG02014,HG02255,HG02315,HG02323,HG02334,HG02427,HG02445,HG02470,HG02476,HG02496,HG02554,HG02562,HG02570,HG02574,HG02577,HG02586,HG02628,HG02635,HG02645,HG02678,HG02759,HG02769,HG02798,HG02799,HG02804,HG02814,HG02820,HG02891,HG02938,HG02941,HG02947,HG03072,HG03100,HG03105,HG03120,HG03121,HG03127,HG03159,HG03166,HG03246,HG03247,HG03295,HG03428,HG03437,HG03451,HG03461,HG03472,HG03476,HG03484,HG03521,HG03583,NA18873,NA19026,NA19043,NA19093,NA19108,NA19113,NA19114,NA19116,NA19201,NA19225,NA19314,NA19315,NA19351,NA19377,NA19449,NA19454,NA19463,NA19471,NA19474,NA19625,NA19655,NA19700,NA19704,NA19711,NA19909,NA19922,NA20289 nsv5869879 1 10249580 10252125 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359306 M 914 0 1 "" esv2664632 1 10249580 10252126 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6429175,essv6037479,essv5636176,essv6273252,essv6271813,essv6197999,essv6177818,essv5468908,essv6329801,essv5497140,essv6081874,essv5916833,essv6139852,essv6146888,essv6204148 M 1151 0 15 "" HG01140,NA18873,NA19108,NA19116,NA19315,NA19377,NA19449,NA19463,NA19471,NA19474,NA19625,NA19655,NA19700,NA19704,NA19711 nsv5827668 1 10249589 10250633 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460683 M 914 0 0 "" nsv5827669 1 10249590 10251670 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454705 M 914 0 0 "" nsv4051045 1 10249612 10252126 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856803 M 10847 0 1 "" nsv6317092 1 10249612 10252126 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050437 M 19652 0 1 "" nsv6331079 1 10249659 10250858 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050438 M 19652 0 1 "" nsv5827561 1 10250971 10252170 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458928 M 914 0 0 "" nsv6057533 1 10254259 10254259 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530086 M 405 1 0 "" nsv4458780 1 10254259 10254260 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023712 M 10847 1 0 "" esv3544233 1 10254726 10257439 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9742980 M 767 0 1 "" nsv5827671 1 10254757 10257156 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452597 M 914 0 0 "" nsv4040002 1 10254788 10257439 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856812 M 10847 0 1 "" nsv5421231 1 10254788 10257439 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891388 M 3202 0 1 "" nsv6322097 1 10254788 10257439 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050451 M 19652 0 1 "" nsv5872345 1 10254792 10257438 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362370 M 914 0 1 "" esv3585198 1 10254795 10257437 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851734,essv9851736,essv9851735,essv9851737,essv9851738 M 2504 0 5 "" HG00638,HG01507,NA12748,NA20509,NA20761 nsv5573887 1 10254796 10257438 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059615 M 35 0 1 "" NA20509 nsv4051146 1 10255304 10268607 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965403 M 10847 1 0 "" nsv5980473 1 10256567 10256679 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520557 M 405 0 1 "" nsv6329267 1 10257759 10259858 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050455 M 19652 0 1 "" nsv5980546 1 10259722 10259840 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536899 M 405 0 1 "" nsv5980695 1 10260049 10260115 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523504 M 405 0 1 "" nsv6552879 1 10262028 10262500 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18246987 M 19652 0 0 "" nsv1137728 1 10262272 10262336 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990236 M 2 0 1 "" KWS2 nsv4458449 1 10265193 10265194 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023721 M 10847 1 0 "" esv3656365 1 10265523 10265523 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479932 M 20 1 0 "" nsv6541686 1 10268410 10269000 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18246990 M 19652 0 0 "" nsv5420478 1 10268506 10268688 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891389 M 3202 0 1 "" esv3656438 1 10272744 10272744 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16479999 M 20 1 0 KIF1B nsv6322212 1 10275527 10280930 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050478 M 19652 0 1 KIF1B dgv23n166 1 10276000 10281249 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4044221,nsv4517530 M 10847 0 2 KIF1B esv3673367 1 10277401 10277402 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16495234 M 20 0 0 KIF1B nsv5980697 1 10277492 10281250 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519856 M 405 0 1 KIF1B nsv5430616 1 10277521 10281249 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891391 M 3202 0 1 KIF1B nsv4036675 1 10279269 10282765 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856839 M 10847 0 1 KIF1B nsv6327435 1 10279269 10282765 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050487 M 19652 0 1 KIF1B dgv43n223 1 10280260 10281429 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6550011,nsv6548516 M 19652 0 0 KIF1B nsv6335377 1 10283655 10284214 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049802 M 19652 0 1 KIF1B nsv6329934 1 10284402 10287319 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18049806 M 19652 0 1 KIF1B nsv5827880 1 10284450 10287249 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469473 M 914 0 0 KIF1B nsv6552616 1 10286918 10287182 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18246998 M 19652 0 0 KIF1B nsv6545454 1 10289731 10290542 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247000 M 19652 0 0 KIF1B nsv6539197 1 10291276 10291494 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247167 M 19652 0 0 KIF1B nsv5827770 1 10291470 10293169 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462058 M 914 0 0 KIF1B dgv44n223 1 10294880 10296298 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6536476,nsv6539035 M 19652 0 0 KIF1B nsv6542312 1 10295309 10295804 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247172 M 19652 0 0 KIF1B nsv545381 1 10296452 10423988 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709716 M 17421 1 0 KIF1B nsv6536742 1 10298687 10299089 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247173 M 19652 0 0 KIF1B nsv4040054 1 10300000 10305000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856853 M 10847 0 1 KIF1B nsv5692552 1 10300800 10300800 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17228180,nssv17203616 M 3202 2 0 KIF1B nsv6540671 1 10302754 10303209 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247174 M 19652 0 0 KIF1B nsv1126977 1 10307025 10307084 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985265 M 2 0 1 KIF1B KWS1 nsv545382 1 10309026 10377221 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709717,nssv709718 M 17421 0 2 KIF1B nsv5827672 1 10313210 10314655 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460072 M 914 0 0 KIF1B nsv6321804 1 10314449 10315664 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050641 M 19652 0 1 KIF1B nsv4559176 1 10314991 10314992 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023732 M 10847 1 0 KIF1B nsv6551083 1 10315035 10315644 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247177 M 19652 0 0 KIF1B nsv4458566 1 10318191 10318192 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023742 M 10847 1 0 KIF1B nsv4458677 1 10318996 10318997 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023749 M 10847 1 0 KIF1B nsv6543242 1 10320653 10321214 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247179 M 19652 0 0 KIF1B nsv5827771 1 10321220 10323219 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457055 M 914 0 0 KIF1B nsv6536266 1 10325289 10325919 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247181 M 19652 0 0 KIF1B nsv477279 1 10332130 10332130 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017679 M 9 1 0 KIF1B NA18517 nsv5692512 1 10333797 10333797 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203617,nssv17229316 M 3202 2 0 KIF1B esv2743641 1 10334364 10335382 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6871706,essv6707257,essv6895842,essv6954731,essv6692753,essv6937671,essv6750589,essv6916618,essv6729612,essv6784986,essv6784499,essv6748253,essv6696983,essv6925681,essv6780860,essv6710573,essv6773430,essv6821172,essv6753488,essv6735970,essv6764150,essv6913993,essv6714236,essv6759035,essv6742132,essv6847002,essv6950543,essv6668938,essv6972327,essv6853224,essv6921705,essv6738803,essv6950152,essv6876698 M 96 0 34 KIF1B SSM003,SSM004,SSM008,SSM009,SSM012,SSM016,SSM018,SSM019,SSM022,SSM025,SSM026,SSM029,SSM031,SSM037,SSM038,SSM041,SSM042,SSM043,SSM047,SSM050,SSM052,SSM053,SSM057,SSM058,SSM061,SSM063,SSM066,SSM068,SSM069,SSM079,SSM086,SSM087,SSM091,SSM099 esv2743652 1 10334566 10335030 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6871706,essv6954731,essv6895842,essv6692753,essv6937671,essv6784986,essv6729612,essv6821172,essv6748253,essv6784499,essv6925681,essv6773430,essv6780860,essv6668938,essv6710573,essv6696983,essv6913993,essv6714236,essv6847002,essv6950543,essv6707257,essv6950152,essv6853224,essv6876698 M 96 0 24 KIF1B SSM004,SSM008,SSM009,SSM012,SSM016,SSM019,SSM022,SSM025,SSM026,SSM031,SSM037,SSM038,SSM041,SSM042,SSM043,SSM047,SSM066,SSM068,SSM069,SSM079,SSM086,SSM087,SSM091,SSM099 esv4531 1 10334704 10334932 CNV loss Wang_et_al_2008 18987735 Sequencing essv26972 M 1 0 1 KIF1B YH nsv5577217 1 10334731 10334816 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059640 M 35 0 1 KIF1B HG00732 nsv5881241 1 10334731 10334816 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362251 M 914 0 1 KIF1B nsv3525909 1 10334731 10334817 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14325004,nssv14325006,nssv14325005,nssv14325002,nssv14325003 M 9 0 5 KIF1B HG00512,HG00513,HG00514,NA19238,NA19239 esv3675662 1 10334731 10334818 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16463335 M 20 0 1 KIF1B nsv2800304 1 10334732 10334817 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13696479 M 2 0 1 KIF1B nsv3319671 1 10334732 10334817 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487077,nssv14484950,nssv14479360,nssv14480729,nssv14480003,nssv14483291 M 14 0 6 KIF1B CHM1,HG00514,HG01352,HG02059,NA19240,NA19434 nsv3182771 1 10334732 10334818 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379556,nssv14413294 M 9 0 0 KIF1B HG00514,NA19240 nsv1130268 1 10334734 10334820 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966185 M 2 0 1 KIF1B KWS2 nsv5980619 1 10334752 10334839 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537431 M 405 0 1 KIF1B nsv1129867 1 10334761 10334828 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965001 M 2 0 1 KIF1B KWS2 nsv4747924 1 10334776 10334860 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16265405 M 25 0 1 KIF1B nsv6536971 1 10335992 10337127 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247185 M 19652 0 0 KIF1B nsv5692427 1 10341332 10341332 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17222839 M 3202 1 0 KIF1B nsv5398403 1 10341332 10341383 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891392 M 3202 1 0 KIF1B esv3890859 1 10341516 10385664 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25784884 M 3017 0 1 KIF1B nsv4559181 1 10342900 10342901 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023760 M 10847 1 0 KIF1B nsv4051774 1 10350381 10350920 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856860 M 10847 0 1 KIF1B esv2550823 1 10351979 10353263 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5364930 M 1 0 1 KIF1B NA18507 nsv3205068 1 10357012 10370159 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14282002 M 9 0 1 KIF1B NA19238 nsv4043519 1 10358140 10358194 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856870 M 10847 0 1 KIF1B nsv3197873 1 10365932 10409974 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14253757 M 9 0 1 KIF1B NA19238 nsv2409 1 10366090 10388236 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3425 M 9 1 0 KIF1B NA12878 dgv1n17 1 10366487 10387704 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nsv437201,nsv437200 M 60 0 2 KIF1B NA18500,NA18914 nsv1003027 1 10367332 10377971 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468399 M 11257 0 1 KIF1B nsv1155461 1 10367344 10381772 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4012214 M 131 0 1 KIF1B dgv45n223 1 10368459 10378658 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6323184,nsv6319947 M 19652 0 2 KIF1B nsv436146 1 10368866 10379009 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466361 M 2 0 1 KIF1B NA18505 nsv8102 1 10368970 10378846 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv26900,nssv26885,nssv24611 M 31 0 3 KIF1B NA18502,NA18853,NA19132 nsv5827563 1 10369415 10378636 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461151 M 914 0 0 KIF1B esv23835 1 10369418 10378885 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12065 M 40 0 4 KIF1B NA18502,NA18505,NA18508,NA18861 esv3585199 1 10369423 10378616 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9851751,essv9851822,essv9851747,essv9851824,essv9851749,essv9851830,essv9851750,essv9851826,essv9851746,essv9851828,essv9851745,essv9851817,essv9851744,essv9851829,essv9851743,essv9851821,essv9851748,essv9851820,essv9851741,essv9851776,essv9851818,essv9851739,essv9851781,essv9851819,essv9851740,essv9851783,essv9851827,essv9851742,essv9851786,essv9851823,essv9851759,essv9851825,essv9851769,essv9851803,essv9851777,essv9851814,essv9851774,essv9851801,essv9851762,essv9851804,essv9851780,essv9851796,essv9851757,essv9851798,essv9851773,essv9851809,essv9851785,essv9851812,essv9851754,essv9851792,essv9851771,essv9851808,essv9851753,essv9851790,essv9851779,essv9851805,essv9851761,essv9851811,essv9851782,essv9851813,essv9851768,essv9851802,essv9851755,essv9851807,essv9851764,essv9851810,essv9851756,essv9851797,essv9851763,essv9851800,essv9851787,essv9851794,essv9851775,essv9851793,essv9851758,essv9851816,essv9851752,essv9851799,essv9851784,essv9851791,essv9851766,essv9851815,essv9851778,essv9851795,essv9851760,essv9851806,essv9851770,essv9851789,essv9851765,essv9851788,essv9851767,essv9851772 M 2504 0 92 KIF1B HG00743,HG01092,HG01242,HG01497,HG01883,HG01894,HG02054,HG02108,HG02143,HG02308,HG02318,HG02325,HG02471,HG02497,HG02546,HG02624,HG02715,HG02768,HG02836,HG02941,HG02943,HG02973,HG02976,HG03063,HG03064,HG03073,HG03085,HG03095,HG03097,HG03112,HG03132,HG03157,HG03169,HG03175,HG03202,HG03265,HG03267,HG03268,HG03271,HG03280,HG03294,HG03300,HG03303,HG03342,HG03351,HG03354,HG03366,HG03367,HG03433,HG03499,HG03572,NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18853,NA18861,NA18865,NA18867,NA18868,NA18908,NA18912,NA18933,NA19118,NA19130,NA19184,NA19185,NA19198,NA19207,NA19213,NA19235,NA19238,NA19248,NA19314,NA19323,NA19355,NA19374,NA19395,NA19434,NA19452,NA19461,NA19664,NA19703,NA19707,NA19819,NA19984,NA20294,NA20320,NA20321,NA20348 nsv5878212 1 10369469 10378665 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359385 M 914 0 1 KIF1B esv2657507 1 10369469 10378666 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6197273,essv5686174,essv6365915,essv6409473,essv6440119,essv6579722,essv6391440,essv6351408,essv5788710,essv5703986,essv6232622,essv6142163,essv6049359,essv6032068,essv6575060,essv5621291,essv6470107,essv6438243,essv6457207,essv6497190,essv6523702,essv6334780,essv6315385,essv5408544,essv5958414,essv6304472,essv5415425 M 1151 0 27 KIF1B NA18499,NA18501,NA18502,NA18505,NA18508,NA18510,NA18867,NA18868,NA18908,NA18912,NA19130,NA19213,NA19235,NA19238,NA19248,NA19355,NA19359,NA19374,NA19395,NA19434,NA19444,NA19452,NA19461,NA19664,NA19703,NA19707,NA19819 nsv4049897 1 10369469 10378666 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856880 M 10847 0 1 KIF1B nsv5428841 1 10369469 10378666 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890685 M 3202 0 1 KIF1B nsv3319030 1 10369470 10378658 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479370 M 14 0 1 KIF1B NA19434 nsv3193423 1 10369476 10378666 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14323607 M 9 0 1 KIF1B NA19238 nsv5578991 1 10369481 10378665 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059666 M 35 0 1 KIF1B NA19238 esv3692757 1 10369546 10377221 CNV loss Palta_et_al_2015 25853576 SNP array essv16507633,essv16508870,essv16509152,essv16508152,essv16507968,essv16508721,essv16508068,essv16509112,essv16507028,essv16509037,essv16508798,essv16508890,essv16508778 M 199 0 13 KIF1B NA18500,NA18501,NA18502,NA18505,NA18506,NA18508,NA18853,NA18854,NA18861,NA18863,NA19192,NA19207,NA19238 esv2421759 1 10369546 10377983 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5095610,essv5032695,essv5109789,essv5146221,essv5087410,essv5074473,essv5107159,essv5075248,essv5089301,essv5011379,essv5073299,essv5048097,essv5084373,essv5062374,essv5110636,essv5081479,essv5013970,essv5030658,essv5142692,essv5012723,essv5059809,essv5155081,essv5066898,essv5011913,essv5071040,essv5037021,essv5033654,essv5093833,essv5118117,essv5103254,essv5031808,essv5131639,essv5141223,essv5124066,essv5029372,essv5104647,essv5054475,essv5117819,essv5145720,essv5072375,essv5045696,essv5098414,essv5060455,essv5158917,essv5064063,essv5031784,essv5014103,essv5151358,essv5033256,essv5131012,essv5100113,essv5131248,essv5062929,essv5053735,essv5005447,essv5077233,essv5145827,essv5028433,essv5049783 M 1184 0 59 KIF1B NA18497,NA18499,NA18500,NA18501,NA18505,NA18506,NA18508,NA18510,NA18853,NA18854,NA18861,NA18863,NA18867,NA18868,NA18869,NA18912,NA18913,NA18914,NA18933,NA18935,NA19118,NA19130,NA19132,NA19176,NA19179,NA19180,NA19184,NA19185,NA19186,NA19192,NA19198,NA19207,NA19213,NA19215,NA19235,NA19237,NA19238,NA19248,NA19249,NA19314,NA19359,NA19374,NA19434,NA19444,NA19452,NA19664,NA19703,NA19705,NA19819,NA20294,NA20295,NA20297,NA20322,NA20348,NA21300,NA21418,NA21441,NA21520,NA21613 nsv6329438 1 10369659 10374158 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050165 M 19652 0 1 KIF1B nsv515546 1 10370312 10373503 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv691095,nssv667908,nssv695737,nssv690059,nssv660763,nssv658813,nssv656381,nssv666539,nssv687648,nssv690144,nssv680418,nssv656820,nssv657555,nssv680299,nssv686246,nssv663872,nssv658241,nssv667133,nssv676915,nssv671141,nssv682975,nssv654559,nssv679262 M 2026 0 23 KIF1B nsv545383 1 10370312 10373503 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173665 M 17421 0 1 KIF1B HGDP00923 nsv818666 1 10370312 10373503 CNV loss Wang_et_al_2007 17921354 SNP array nssv1416820,nssv1418422,nssv1417808,nssv1417809 M 112 0 4 KIF1B NA18853,NA18854,NA19192,NA19238 nsv545384 1 10370312 10377221 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709719 M 17421 0 1 KIF1B esv3577732 1 10370389 10381775 CNV loss Uddin_et_al_2014 25503493 SNP array essv9796644 M 873 0 1 KIF1B 401307VR nsv1011917 1 10370390 10382314 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471935 M 11257 0 1 KIF1B esv2764182 1 10370402 10377983 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004945,essv7004942,essv7004948,essv7004947,essv7004950,essv7004951,essv7004956,essv7004953,essv7004949,essv7004952,essv7004958,essv7004954,essv7004943,essv7004946,essv7004957 M 1109 0 15 KIF1B RW_0014,RW_0028,RW_0155,RW_0178,RW_0201,RW_0220,RW_0258,RW_0266,RW_0306,RW_0329,RW_0538,RW_0576,RW_0616,RW_0653,RW_0660 nsv441678 1 10370541 10377983 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1617713,nssv1617747,nssv1617725,nssv1617791,nssv1617891,nssv1617736,nssv1617858,nssv1617902,nssv1617769,nssv1617802,nssv1617836,nssv1617880,nssv1617869,nssv1617758,nssv1617847,nssv1617813,nssv1617824,nssv1617780 M 270 0 18 KIF1B NA18500,NA18501,NA18502,NA18505,NA18506,NA18508,NA18853,NA18854,NA18861,NA18863,NA18912,NA18913,NA18914,NA19130,NA19132,NA19192,NA19207,NA19238 nsv513981 1 10370854 10377962 CNV loss Campbell_et_al_2011 21397061 Oligo aCGH nssv2845166,nssv2845146,nssv2845163,nssv2845157,nssv2845165,nssv2845162,nssv2845167,nssv2845153,nssv2845164,nssv2845139,nssv2845152,nssv2843660,nssv2845161,nssv2845142,nssv2845138,nssv2845148,nssv2845149,nssv2845145,nssv2845160,nssv2845147,nssv2845154,nssv2845150,nssv2845159,nssv2845151,nssv2845144,nssv2845155,nssv2845140,nssv2845143,nssv2845137,nssv2845158,nssv2845156,nssv2845141,nssv2843659 M 2366 0 33 KIF1B NA18497,NA18499,NA18500,NA18501,NA18506,NA18508,NA18510,NA18853,NA18854,NA18861,NA18863,NA18867,NA18868,NA18869,NA18908,NA18933,NA18935,NA19118,NA19130,NA19132,NA19179,NA19180,NA19184,NA19185,NA19186,NA19192,NA19198,NA19207,NA19235,NA19237,NA19248,NA19249,NA21441 nsv4458680 1 10375028 10375029 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023768 M 10847 1 0 KIF1B nsv5683382 1 10375042 10375042 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17216273 M 3202 1 0 KIF1B nsv5393987 1 10375042 10375093 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890705 M 3202 1 0 KIF1B nsv437970 1 10375179 10378416 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv467741,nssv468185,nssv471534,nssv467852,nssv468074,nssv467963 M 269 0 6 KIF1B NA18500,NA18502,NA18912,NA18914,NA19130,NA19132 nsv6323816 1 10375759 10378258 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050175 M 19652 0 1 KIF1B nsv6553863 1 10375983 10376650 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247188 M 19652 0 0 KIF1B nsv6538210 1 10378576 10379173 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247189 M 19652 0 0 KIF1B nsv5827565 1 10378637 10379936 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463252 M 914 0 0 KIF1B esv3656641 1 10380822 10380822 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16480181 M 20 1 0 KIF1B esv2764192 1 10383734 10594186 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7004959,essv7004960 M 1109 2 0 APITD1,APITD1-CORT,CORT,DFFA,KIF1B,PEX14,PGD RW_0575,RW_0621 nsv6554814 1 10392718 10393432 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247190 M 19652 0 0 KIF1B nsv5827883 1 10392884 10394183 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466431 M 914 0 0 KIF1B nsv6054018 1 10393043 10393043 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527932 M 405 1 0 KIF1B nsv4050122 1 10403909 10404199 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856904 M 10847 0 1 KIF1B nsv5570668 1 10412074 10412133 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059691 M 35 0 1 KIF1B HG02011 nsv5980705 1 10412178 10412302 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525560 M 405 0 1 KIF1B nsv6321362 1 10417030 10439127 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050224 M 19652 0 1 KIF1B nsv4326613 1 10417673 10420508 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788929 M 10847 0 0 KIF1B nsv5827569 1 10418530 10419779 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450365 M 914 0 0 KIF1B nsv6538252 1 10426265 10427370 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247192 M 19652 0 0 KIF1B nsv5980554 1 10426831 10426971 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534371 M 405 0 1 KIF1B nsv4744552 1 10432603 10432678 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279577 M 25 0 1 KIF1B nsv5980707 1 10432622 10432695 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520404 M 405 0 1 KIF1B nsv5581657 1 10432651 10432722 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060269 M 35 0 1 KIF1B NA19983 nsv5420289 1 10432667 10432724 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890724 M 3202 0 1 KIF1B nsv4049826 1 10432667 10432725 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856932 M 10847 0 1 KIF1B nsv5980708 1 10432688 10432753 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532129 M 405 0 1 KIF1B nsv4035700 1 10432694 10432746 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857325 M 10847 0 1 KIF1B nsv6326926 1 10446173 10451235 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050993 M 19652 0 1 "" nsv4051915 1 10447216 10447506 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857343 M 10847 0 1 "" nsv8213 1 10450914 10460439 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv28055 M 31 1 0 PGD NA19221 nsv4049176 1 10452075 10452896 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965404 M 10847 1 0 "" nsv6316433 1 10452358 10454157 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051001 M 19652 0 1 "" nsv4432906 1 10454001 10461000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15753759,nssv15754583 M 15 2 0 PGD BTQ016,BTQ038 esv3688026 1 10455609 10455757 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16463391 M 20 0 1 "" nsv4039898 1 10456271 10470490 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965405 M 10847 1 0 PGD nsv1145320 1 10456807 10456875 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982414 M 2 0 1 "" KWS1 nsv3200426 1 10459147 10486476 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14257933 M 9 0 1 PGD HG00732 nsv4046697 1 10459440 10459540 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857351 M 10847 0 1 PGD nsv4043637 1 10462569 10462626 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857358 M 10847 0 1 PGD nsv4534450 1 10469412 10469413 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023779 M 10847 1 0 PGD nsv4561656 1 10471093 10471094 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024346 M 10847 1 0 PGD esv1010529 1 10476195 10478586 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564483 M 3 0 1 PGD HuRef nsv4458465 1 10478311 10478312 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024357 M 10847 1 0 PGD nsv4042072 1 10478983 10479575 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857375 M 10847 0 1 PGD nsv5429137 1 10481336 10482326 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890725 M 3202 0 1 "" nsv8324 1 10481597 10484645 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv21428,nssv24609,nssv28548,nssv28046,nssv21445,nssv26887,nssv26875,nssv28037,nssv24608,nssv26893,nssv28538,nssv24596,nssv11773,nssv29251,nssv24601,nssv28052,nssv26889,nssv24615,nssv29270,nssv12119 M 31 0 20 "" NA07029,NA10839,NA10847,NA12155,NA12740,NA12802,NA18502,NA18504,NA18517,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18972,NA18975,NA18980,NA19132,NA19173 nsv511676 1 10482243 10483797 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626314 M 1 0 1 "" 1 esv7749 1 10482248 10484003 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30190 M 1 0 0 "" dgv12n67 1 10482342 10483642 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv827808,nsv827919 M 31 0 11 "" AK12,AK16,AK20,AK4,NA18526,NA18552,NA18564,NA18951,NA18968,NA18972,NA18997 esv2743663 1 10482434 10483755 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863947,essv6692755,essv6892312,essv6735971,essv6871707,essv6797440,essv6880414,essv6773432,essv6888998,essv6810335,essv6898605,essv6707258,essv6729613,essv6784510,essv6784988,essv6916629,essv6748265,essv6832591,essv6821173,essv6824973,essv6780861,essv6925682,essv6695610,essv6710574,essv6954732,essv6666887,essv6766534,essv6668939,essv6764151,essv6761847,essv6714237,essv6759036,essv6847003,essv6972329,essv6950544,essv6921708,essv6753489,essv6853225,essv6950163,essv6876710,essv6738804 M 96 0 41 "" SSM003,SSM004,SSM006,SSM008,SSM009,SSM012,SSM018,SSM019,SSM025,SSM026,SSM029,SSM030,SSM031,SSM037,SSM041,SSM042,SSM043,SSM047,SSM050,SSM052,SSM058,SSM061,SSM062,SSM063,SSM064,SSM066,SSM068,SSM069,SSM072,SSM076,SSM079,SSM080,SSM082,SSM086,SSM087,SSM089,SSM091,SSM094,SSM097,SSM098,SSM100 esv3544344 1 10482436 10483963 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9743091 M 767 0 1 "" esv3677 1 10482452 10483948 CNV loss Wang_et_al_2008 18987735 Sequencing essv26118 M 1 0 1 "" YH nsv5827678 1 10482471 10483570 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451195 M 914 0 0 "" nsv1075602 1 10482479 10483792 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765281 M 1 0 1 "" KWP1 nsv5577490 1 10482480 10483778 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060251 M 35 0 1 "" HG00732 nsv5880781 1 10482480 10483778 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369191 M 914 0 1 "" esv2663489 1 10482480 10483779 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6059667,essv5887286,essv6570399,essv5448258,essv5886197,essv5606002,essv6571216,essv5925116,essv5466963,essv6421742,essv6504427,essv6168883,essv5997646,essv6407585,essv5658131,essv5913085,essv6534045,essv5669670,essv6473890,essv6519788,essv5579039,essv6287583,essv6358679,essv6232460,essv5876716,essv5594797,essv6285295,essv6327097,essv5443914,essv5704183,essv5838191,essv6258737,essv6217647,essv5453084,essv5840040,essv6140873,essv5416365,essv5603262,essv6398498,essv6055665,essv6437789,essv5637092,essv6015757,essv6497903,essv6070115,essv6030917,essv6475246,essv6501231,essv5740371,essv6453959,essv6389924,essv5549458,essv5507226,essv6293177,essv6378574,essv6112411,essv6083833,essv5711377,essv6309160,essv5668324,essv6009953,essv6443242,essv5890037,essv6117719,essv5397699,essv6213143,essv5791150,essv5560994,essv5645642,essv5939677,essv6025880,essv6078400,essv5897439,essv5433824,essv5806211,essv5651614,essv5656514,essv5794107,essv6403618,essv6056143,essv5638334,essv6375135,essv6008032,essv6154050,essv5550187,essv6003496,essv5682527,essv5478376,essv6466577,essv5979944,essv6481416,essv6109890,essv6505315,essv6543000,essv6500997,essv5926047,essv5840246,essv5569875,essv5658801,essv6303824,essv6531876,essv6346495,essv6197783,essv6120754,essv5647922,essv5534987,essv5977358,essv5717506,essv6067284,essv6423986,essv6226514,essv5947020,essv6338142,essv6462889,essv5863418,essv6023097,essv5697238,essv5697864,essv6043683,essv6361074,essv6267855,essv6426186,essv6122210,essv6105838,essv5998238,essv5980067,essv5923578,essv6300912,essv6082660,essv5443727,essv6320926,essv5713434,essv5750389,essv6031469,essv5749291,essv5818762,essv6108804,essv6543572,essv6416506,essv5929896,essv6001004,essv6072585,essv5825425,essv6524660,essv5951749,essv6488949,essv5507327,essv5777485,essv5543246,essv5828447,essv6189780,essv5441198,essv5926985,essv5970585,essv6452751,essv6255756,essv6166291,essv6309345,essv5400210,essv6211683,essv6217325,essv5786285,essv5825384,essv6529147,essv6569641,essv6219375,essv5407871,essv6181556,essv5884041,essv6517634,essv5656451,essv6571552,essv5757823,essv6337533,essv6267519,essv5925061,essv6545964,essv5629542,essv5859131,essv5931203,essv5635493,essv6494633,essv5507435,essv5747055,essv5582559,essv6359688,essv5562999,essv6150102,essv5705603,essv6233420,essv5438740,essv6141541,essv5403355,essv5463208,essv6044459,essv6414679,essv6309428,essv6350388,essv6454078,essv5638395,essv6544578,essv5630483,essv5893598,essv5462182,essv6453178,essv6202139,essv5847871,essv6037170,essv5713930,essv6428644,essv6489166,essv6556368,essv5753476,essv5864135,essv6337532,essv6515464,essv6261410,essv5742081,essv6277663,essv6225457,essv6343041,essv5495818,essv6309772,essv5998544,essv6127169,essv6044242,essv6405500,essv5999646,essv6371106,essv5446149,essv6386072,essv5497871,essv5483100,essv5474499,essv6040525,essv5929071,essv6152646,essv6153607,essv6358420,essv5843789,essv5621102,essv6148345,essv5479877,essv6193031,essv6452805,essv6445052,essv6234767,essv5774239,essv6009955,essv6446701,essv5932189,essv5824442,essv6214864,essv5698538,essv6523588,essv5740519,essv6543375,essv5442777,essv6244164,essv6556918,essv5996660,essv5450041,essv5977891,essv5982711,essv6367831,essv6391680,essv5657531,essv6319525,essv5879659,essv5440001,essv5763210,essv5435569,essv5708184,essv5915555,essv6414038,essv5494449,essv6328463,essv5707178,essv5517230,essv5800240,essv6037609,essv6028426,essv5919934,essv6004934,essv6283296,essv5593008,essv6564821,essv5561822,essv5547098,essv5830286,essv5664015,essv5943111,essv6569221,essv5832601,essv6573138,essv6174976,essv5660052,essv5824742,essv6545437,essv5922226,essv6106920,essv5665611,essv5556330,essv5477948,essv6037557,essv6499481,essv6515930,essv5927889,essv5697149,essv5540041,essv6333904,essv6053302,essv6129820,essv5914562,essv5734741,essv6077962,essv5649150,essv5434620,essv6078013,essv6079544,essv6041397,essv5575062,essv5506622,essv5759580,essv5687924,essv5422972,essv5485971,essv5855374,essv6159821,essv6332771,essv5532963,essv5671132,essv6314037,essv6045770,essv5764814,essv5417192,essv5810798,essv5519520,essv6481054,essv6552600,essv5645970,essv5810237,essv5744022,essv5796161,essv6594866,essv5444810,essv5416517,essv5683878,essv6053762,essv5429067,essv6236164,essv5608394,essv5454111,essv6057148,essv6194148,essv5740974,essv6590902,essv5451033,essv5893636,essv6020882,essv5589516,essv5730685,essv5651394,essv5763701,essv5611588,essv5874310,essv5948908,essv5728353,essv5941406,essv5496640,essv6587142,essv5631944,essv6384101,essv5802169,essv6249189,essv5644499,essv5598583,essv6147076,essv5954026,essv5671844,essv5487149,essv6553649,essv6189972,essv6215221,essv5955204,essv5410129,essv6523322,essv5590662,essv6521001,essv6020925,essv5719048,essv5546296,essv5656121,essv5804173,essv6440924,essv6594078,essv5569218,essv6310438,essv6502984,essv6170202,essv6554602,essv5691195,essv6196780,essv6097611,essv6079804,essv5697031,essv5735132,essv5939054,essv6486985,essv6497445,essv6183826,essv6249263,essv5889982,essv5958737,essv6362631,essv5592256,essv5694687,essv6032337,essv6258207,essv5425326,essv5785639,essv5448203,essv6321185,essv6270351,essv5835608,essv5941868,essv5978278,essv6498652,essv6184452,essv6594872,essv5539171,essv5502310,essv5547251,essv6434552,essv6561262,essv6495342,essv5901531,essv6087820,essv6535993,essv6115867,essv6036188,essv5596653,essv5947983,essv6353822,essv5446927,essv5446394,essv6077186,essv5469932,essv5793370,essv5906683,essv6490899,essv5710567,essv6045572,essv5670783,essv6427340,essv6546067,essv6174947,essv6069441,essv5736515,essv5845475,essv5731253,essv6585838,essv6226442,essv5809466,essv6145681,essv5982784,essv5879605,essv5853140,essv5565916,essv6213237,essv5441444,essv5450198,essv5563739,essv6129891,essv5742989,essv6051497,essv5876249,essv6476226,essv5869050,essv6243382,essv6516351,essv5666496,essv6081132,essv6327385,essv5654749,essv5754412,essv6305814,essv6179259,essv5646061,essv5641017,essv6292755,essv5705105,essv6429246,essv6191903,essv6544988,essv6593522,essv6215283,essv6104344,essv6280195,essv6053369,essv6116949,essv6414817,essv5987641,essv6368159,essv5830822,essv6586677,essv5494257,essv5613652,essv6365430,essv6160005,essv6275055,essv6309362,essv6516379,essv6485389,essv6003335,essv5764037,essv6130087,essv6331455,essv5769734,essv6520415,essv5656853,essv5795097,essv6581097,essv5441304,essv6214972,essv6032975,essv5460769,essv5735105,essv5437854,essv5918987,essv5512109,essv6083572,essv5618775,essv5543320,essv6191498,essv6259705,essv5789398,essv5996708,essv5543603,essv5653298,essv5541688,essv5583001,essv5437468,essv6445551,essv5772119,essv6293727,essv5881601,essv5546486,essv6248810 M 1151 0 549 "" HG00096,HG00112,HG00114,HG00116,HG00118,HG00120,HG00124,HG00126,HG00136,HG00137,HG00151,HG00152,HG00156,HG00158,HG00160,HG00177,HG00180,HG00182,HG00185,HG00187,HG00189,HG00190,HG00232,HG00239,HG00242,HG00244,HG00247,HG00250,HG00251,HG00253,HG00257,HG00262,HG00264,HG00267,HG00268,HG00270,HG00271,HG00273,HG00274,HG00275,HG00276,HG00277,HG00280,HG00281,HG00282,HG00285,HG00306,HG00311,HG00312,HG00313,HG00315,HG00318,HG00320,HG00324,HG00326,HG00328,HG00329,HG00330,HG00334,HG00336,HG00339,HG00344,HG00377,HG00403,HG00404,HG00418,HG00419,HG00427,HG00436,HG00442,HG00443,HG00448,HG00475,HG00476,HG00479,HG00525,HG00531,HG00534,HG00536,HG00543,HG00554,HG00556,HG00557,HG00559,HG00560,HG00565,HG00577,HG00578,HG00581,HG00584,HG00590,HG00592,HG00593,HG00595,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00620,HG00625,HG00626,HG00628,HG00634,HG00635,HG00641,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00663,HG00671,HG00683,HG00684,HG00692,HG00693,HG00699,HG00701,HG00702,HG00704,HG00707,HG00708,HG00732,HG00737,HG01047,HG01048,HG01051,HG01055,HG01060,HG01061,HG01066,HG01069,HG01070,HG01073,HG01075,HG01079,HG01080,HG01082,HG01098,HG01102,HG01107,HG01108,HG01112,HG01124,HG01125,HG01134,HG01136,HG01137,HG01140,HG01148,HG01149,HG01167,HG01171,HG01174,HG01182,HG01187,HG01188,HG01191,HG01197,HG01198,HG01204,HG01250,HG01251,HG01334,HG01350,HG01354,HG01356,HG01357,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01383,HG01384,HG01390,HG01437,HG01440,HG01441,HG01461,HG01462,HG01492,HG01494,HG01497,HG01498,HG01521,HG01550,HG01551,NA06985,NA06994,NA07000,NA07037,NA07051,NA07056,NA07347,NA07357,NA11829,NA11840,NA11843,NA11919,NA11930,NA11933,NA11992,NA11995,NA12003,NA12004,NA12005,NA12006,NA12045,NA12046,NA12058,NA12144,NA12155,NA12272,NA12273,NA12275,NA12341,NA12347,NA12348,NA12400,NA12414,NA12546,NA12717,NA12748,NA12749,NA12750,NA12751,NA12763,NA12775,NA12776,NA12778,NA12828,NA12829,NA12830,NA12842,NA12843,NA12878,NA12892,NA18486,NA18487,NA18488,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18517,NA18519,NA18522,NA18526,NA18530,NA18533,NA18534,NA18535,NA18538,NA18544,NA18549,NA18550,NA18552,NA18555,NA18558,NA18560,NA18563,NA18564,NA18565,NA18572,NA18577,NA18595,NA18603,NA18610,NA18612,NA18615,NA18617,NA18620,NA18621,NA18624,NA18627,NA18628,NA18630,NA18632,NA18633,NA18634,NA18635,NA18638,NA18853,NA18856,NA18861,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18907,NA18908,NA18909,NA18910,NA18912,NA18916,NA18923,NA18924,NA18933,NA18934,NA18943,NA18948,NA18950,NA18951,NA18956,NA18963,NA18967,NA18968,NA18971,NA18972,NA18975,NA18976,NA18980,NA18983,NA18984,NA18987,NA18989,NA18991,NA19000,NA19004,NA19005,NA19007,NA19012,NA19055,NA19057,NA19060,NA19062,NA19065,NA19067,NA19068,NA19072,NA19075,NA19079,NA19082,NA19085,NA19087,NA19092,NA19093,NA19102,NA19108,NA19114,NA19116,NA19119,NA19129,NA19130,NA19137,NA19138,NA19147,NA19172,NA19190,NA19198,NA19201,NA19207,NA19209,NA19210,NA19213,NA19223,NA19225,NA19235,NA19236,NA19238,NA19248,NA19256,NA19257,NA19311,NA19312,NA19316,NA19317,NA19318,NA19321,NA19324,NA19327,NA19328,NA19338,NA19346,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19377,NA19380,NA19381,NA19383,NA19384,NA19385,NA19390,NA19391,NA19394,NA19395,NA19397,NA19398,NA19401,NA19404,NA19428,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19443,NA19444,NA19445,NA19446,NA19448,NA19452,NA19453,NA19455,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19470,NA19472,NA19661,NA19663,NA19664,NA19675,NA19676,NA19678,NA19681,NA19682,NA19685,NA19700,NA19703,NA19707,NA19711,NA19712,NA19713,NA19716,NA19719,NA19720,NA19722,NA19723,NA19725,NA19726,NA19728,NA19731,NA19732,NA19746,NA19747,NA19749,NA19750,NA19755,NA19756,NA19761,NA19762,NA19770,NA19773,NA19774,NA19777,NA19779,NA19782,NA19783,NA19786,NA19818,NA19819,NA19835,NA19908,NA19914,NA19917,NA19920,NA19921,NA19982,NA20126,NA20281,NA20291,NA20294,NA20299,NA20314,NA20317,NA20322,NA20332,NA20334,NA20341,NA20342,NA20346,NA20348,NA20506,NA20510,NA20512,NA20515,NA20518,NA20521,NA20524,NA20525,NA20526,NA20527,NA20530,NA20533,NA20535,NA20536,NA20537,NA20539,NA20544,NA20581,NA20585,NA20586,NA20588,NA20589,NA20753,NA20755,NA20757,NA20758,NA20759,NA20768,NA20769,NA20770,NA20771,NA20774,NA20775,NA20783,NA20786,NA20790,NA20796,NA20797,NA20798,NA20801,NA20802,NA20804,NA20805,NA20806,NA20807,NA20809,NA20810,NA20812,NA20814,NA20818,NA20819,NA20826,NA20828 nsv5980487 1 10482480 10483779 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532712 M 405 0 1 "" nsv6332710 1 10482480 10483779 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050289 M 19652 0 1 "" dgv34n106 1 10482480 10483800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1121066,nsv1130192,nsv1120616 M 2 0 1 "" KWS2 nsv160262 1 10482481 10483779 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178840 M 24 "" nsv3066940 1 10482481 10483781 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14035039 M 2 0 1 "" CHM1 nsv2800563 1 10482482 10483780 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13686052 M 2 0 1 "" nsv3319472 1 10482482 10483780 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481974,nssv14485441,nssv14477244,nssv14474203,nssv14481965,nssv14475898,nssv14489270,nssv14485115 M 14 0 8 "" CHM1,HG00268,HG01352,HG02059,HG02106,HG02818,NA12878,NA19434 nsv3203363 1 10482489 10483776 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14325208,nssv14325209 M 9 0 2 "" HG00732,NA19238 nsv4739762 1 10482498 10483798 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16263102 M 25 0 1 "" esv3585200 1 10482499 10483790 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing 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essv9852986,essv9853020,essv9853057,essv9853010,essv9853115,essv9853039,essv9853061,essv9853152,essv9853056,essv9852969,essv9853070,essv9852999,essv9853155,essv9853034,essv9853036,essv9853083,essv9853046,essv9853055,essv9853102,essv9853110,essv9853125,essv9853164,essv9853137,essv9853085,essv9853068,essv9853107,essv9853041,essv9853049,essv9852973,essv9852966,essv9853100,essv9853165,essv9852989,essv9853146,essv9853019,essv9853151,essv9852977,essv9853031,essv9852961,essv9853124,essv9853037,essv9853105,essv9853084,essv9853082,essv9853144,essv9853060,essv9852990,essv9853076,essv9852988,essv9853170,essv9853108,essv9853079,essv9853093,essv9853166,essv9853104,essv9853030,essv9853169,essv9853087,essv9853053,essv9853048,essv9853009,essv9853066,essv9853047,essv9853167,essv9853006,essv9853106,essv9852996,essv9853032,essv9853127,essv9853140,essv9853136,essv9853008,essv9853003,essv9853089,essv9852970,essv9853016,essv9853098,essv9853015,essv9853059,essv9853103,essv9853038,essv9853142,essv9853130,essv9853033,essv9853173,essv9853111,essv9853148,essv9853122,essv9853168,essv9853063,essv9853064,essv9852965,essv9853150,essv9853175,essv9853054 M 2504 0 1345 "" HG00096,HG00099,HG00100,HG00102,HG00105,HG00107,HG00109,HG00112,HG00113,HG00114,HG00116,HG00118,HG00126,HG00136,HG00137,HG00142,HG00145,HG00148,HG00151,HG00157,HG00158,HG00160,HG00177,HG00180,HG00182,HG00185,HG00187,HG00189,HG00190,HG00232,HG00234,HG00238,HG00239,HG00242,HG00244,HG00250,HG00251,HG00253,HG00257,HG00262,HG00264,HG00267,HG00268,HG00271,HG00273,HG00274,HG00275,HG00276,HG00277,HG00280,HG00281,HG00282,HG00285,HG00290,HG00304,HG00306,HG00308,HG00311,HG00313,HG00315,HG00318,HG00320,HG00324,HG00326,HG00328,HG00329,HG00330,HG00334,HG00336,HG00339,HG00341,HG00344,HG00349,HG00350,HG00355,HG00360,HG00364,HG00365,HG00368,HG00378,HG00379,HG00381,HG00382,HG00383,HG00404,HG00406,HG00407,HG00419,HG00436,HG00442,HG00443,HG00446,HG00448,HG00452,HG00458,HG00475,HG00476,HG00525,HG00531,HG00534,HG00536,HG00543,HG00554,HG00556,HG00557,HG00559,HG00560,HG00565,HG00581,HG00584,HG00590,HG00592,HG00593,HG00595,HG00598,HG00599,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00620,HG00622,HG00625,HG00628,HG00631,HG00632,HG00634,HG00641,HG00650,HG00651,HG00654,HG00656,HG00657,HG00663,HG00671,HG00675,HG00683,HG00684,HG00692,HG00693,HG00699,HG00701,HG00704,HG00707,HG00708,HG00729,HG00732,HG00737,HG00742,HG00743,HG00844,HG00864,HG01031,HG01047,HG01048,HG01051,HG01055,HG01058,HG01060,HG01061,HG01063,HG01066,HG01069,HG01070,HG01073,HG01075,HG01079,HG01080,HG01082,HG01085,HG01088,HG01092,HG01094,HG01098,HG01102,HG01104,HG01105,HG01107,HG01108,HG01111,HG01112,HG01121,HG01122,HG01124,HG01125,HG01130,HG01131,HG01134,HG01136,HG01137,HG01139,HG01140,HG01142,HG01148,HG01149,HG01161,HG01164,HG01167,HG01171,HG01174,HG01177,HG01187,HG01188,HG01191,HG01197,HG01198,HG01204,HG01241,HG01242,HG01250,HG01251,HG01253,HG01257,HG01277,HG01284,HG01312,HG01325,HG01334,HG01344,HG01345,HG01350,HG01354,HG01356,HG01357,HG01362,HG01365,HG01366,HG01369,HG01372,HG01374,HG01375,HG01377,HG01378,HG01383,HG01384,HG01390,HG01392,HG01393,HG01395,HG01398,HG01403,HG01405,HG01412,HG01413,HG01414,HG01431,HG01435,HG01437,HG01438,HG01440,HG01441,HG01444,HG01461,HG01462,HG01474,HG01485,HG01492,HG01494,HG01497,HG01498,HG01500,HG01504,HG01507,HG01509,HG01510,HG01512,HG01518,HG01519,HG01521,HG01524,HG01525,HG01527,HG01537,HG01550,HG01551,HG01565,HG01571,HG01572,HG01589,HG01599,HG01602,HG01603,HG01605,HG01606,HG01607,HG01610,HG01612,HG01615,HG01620,HG01623,HG01625,HG01632,HG01669,HG01672,HG01675,HG01676,HG01682,HG01684,HG01686,HG01697,HG01700,HG01704,HG01705,HG01707,HG01708,HG01709,HG01746,HG01757,HG01761,HG01766,HG01767,HG01768,HG01770,HG01773,HG01783,HG01785,HG01786,HG01789,HG01796,HG01797,HG01801,HG01802,HG01806,HG01811,HG01812,HG01815,HG01841,HG01842,HG01845,HG01849,HG01850,HG01851,HG01857,HG01858,HG01859,HG01860,HG01862,HG01863,HG01865,HG01866,HG01869,HG01879,HG01880,HG01883,HG01886,HG01890,HG01893,HG01894,HG01917,HG01920,HG01921,HG01924,HG01926,HG01932,HG01933,HG01936,HG01938,HG01944,HG01947,HG01948,HG01950,HG01951,HG01953,HG01954,HG01956,HG01958,HG01961,HG01965,HG01968,HG01971,HG01973,HG01977,HG01986,HG01991,HG01992,HG02002,HG02003,HG02006,HG02008,HG02009,HG02010,HG02012,HG02014,HG02016,HG02017,HG02020,HG02025,HG02032,HG02035,HG02040,HG02047,HG02048,HG02049,HG02050,HG02052,HG02053,HG02054,HG02060,HG02076,HG02078,HG02079,HG02084,HG02085,HG02086,HG02089,HG02090,HG02095,HG02104,HG02105,HG02108,HG02113,HG02127,HG02128,HG02130,HG02131,HG02137,HG02139,HG02142,HG02143,HG02147,HG02150,HG02152,HG02156,HG02178,HG02179,HG02180,HG02185,HG02187,HG02223,HG02232,HG02238,HG02239,HG02253,HG02255,HG02259,HG02260,HG02262,HG02275,HG02277,HG02278,HG02284,HG02285,HG02286,HG02292,HG02299,HG02307,HG02308,HG02309,HG02312,HG02314,HG02318,HG02323,HG02325,HG02330,HG02337,HG02343,HG02348,HG02351,HG02355,HG02373,HG02374,HG02375,HG02379,HG02380,HG02384,HG02386,HG02392,HG02396,HG02402,HG02407,HG02409,HG02419,HG02420,HG02425,HG02427,HG02442,HG02455,HG02462,HG02470,HG02471,HG02481,HG02485,HG02489,HG02490,HG02491,HG02496,HG02497,HG02502,HG02505,HG02508,HG02512,HG02522,HG02537,HG02546,HG02549,HG02555,HG02562,HG02573,HG02577,HG02580,HG02582,HG02583,HG02586,HG02588,HG02595,HG02601,HG02611,HG02613,HG02614,HG02620,HG02624,HG02628,HG02629,HG02643,HG02646,HG02648,HG02649,HG02654,HG02655,HG02657,HG02658,HG02661,HG02675,HG02676,HG02678,HG02679,HG02687,HG02688,HG02690,HG02691,HG02696,HG02702,HG02703,HG02715,HG02716,HG02722,HG02724,HG02728,HG02731,HG02734,HG02737,HG02756,HG02763,HG02768,HG02769,HG02774,HG02786,HG02787,HG02793,HG02805,HG02808,HG02810,HG02813,HG02814,HG02816,HG02817,HG02819,HG02836,HG02852,HG02861,HG02870,HG02881,HG02882,HG02884,HG02887,HG02888,HG02890,HG02895,HG02896,HG02941,HG02943,HG02944,HG02947,HG02952,HG02953,HG02973,HG02974,HG02976,HG02977,HG02979,HG02982,HG02983,HG03007,HG03012,HG03016,HG03021,HG03027,HG03028,HG03039,HG03046,HG03048,HG03049,HG03052,HG03054,HG03055,HG03057,HG03060,HG03061,HG03063,HG03064,HG03069,HG03072,HG03073,HG03074,HG03078,HG03079,HG03081,HG03085,HG03086,HG03095,HG03096,HG03097,HG03099,HG03108,HG03109,HG03112,HG03115,HG03118,HG03124,HG03126,HG03132,HG03135,HG03136,HG03139,HG03157,HG03159,HG03160,HG03162,HG03163,HG03168,HG03169,HG03175,HG03190,HG03193,HG03195,HG03196,HG03198,HG03202,HG03224,HG03234,HG03238,HG03241,HG03246,HG03265,HG03267,HG03268,HG03270,HG03271,HG03280,HG03291,HG03294,HG03295,HG03297,HG03300,HG03301,HG03303,HG03313,HG03342,HG03351,HG03354,HG03363,HG03366,HG03367,HG03369,HG03370,HG03372,HG03376,HG03382,HG03388,HG03401,HG03419,HG03432,HG03433,HG03436,HG03437,HG03439,HG03442,HG03445,HG03446,HG03452,HG03457,HG03460,HG03464,HG03469,HG03470,HG03472,HG03473,HG03478,HG03479,HG03484,HG03485,HG03488,HG03491,HG03499,HG03511,HG03514,HG03515,HG03518,HG03538,HG03539,HG03557,HG03558,HG03559,HG03563,HG03565,HG03571,HG03572,HG03577,HG03578,HG03585,HG03593,HG03594,HG03598,HG03603,HG03604,HG03615,HG03616,HG03624,HG03629,HG03644,HG03645,HG03652,HG03663,HG03667,HG03684,HG03689,HG03692,HG03694,HG03695,HG03696,HG03697,HG03698,HG03702,HG03706,HG03717,HG03718,HG03720,HG03733,HG03738,HG03740,HG03741,HG03744,HG03753,HG03757,HG03762,HG03771,HG03775,HG03778,HG03779,HG03780,HG03781,HG03782,HG03784,HG03785,HG03786,HG03787,HG03789,HG03796,HG03803,HG03808,HG03809,HG03814,HG03815,HG03824,HG03826,HG03832,HG03833,HG03836,HG03838,HG03846,HG03849,HG03851,HG03854,HG03856,HG03861,HG03863,HG03869,HG03871,HG03873,HG03884,HG03885,HG03886,HG03888,HG03890,HG03894,HG03897,HG03899,HG03900,HG03902,HG03905,HG03907,HG03911,HG03914,HG03916,HG03917,HG03920,HG03937,HG03941,HG03944,HG03945,HG03947,HG03950,HG03955,HG03967,HG03968,HG03969,HG03974,HG03977,HG03978,HG03990,HG03995,HG03998,HG03999,HG04001,HG04002,HG04003,HG04006,HG04017,HG04018,HG04025,HG04026,HG04033,HG04039,HG04042,HG04054,HG04056,HG04075,HG04099,HG04100,HG04131,HG04134,HG04140,HG04141,HG04146,HG04152,HG04153,HG04155,HG04156,HG04159,HG04161,HG04162,HG04164,HG04177,HG04180,HG04185,HG04186,HG04188,HG04195,HG04198,HG04209,HG04214,HG04222,HG04225,HG04227,HG04235,HG04238,HG04239,NA06985,NA06994,NA07000,NA07037,NA07051,NA07056,NA07347,NA07357,NA10847,NA11829,NA11840,NA11843,NA11919,NA11930,NA11932,NA11933,NA11992,NA11995,NA12003,NA12004,NA12005,NA12006,NA12044,NA12045,NA12046,NA12058,NA12144,NA12155,NA12272,NA12273,NA12275,NA12287,NA12340,NA12341,NA12347,NA12348,NA12383,NA12400,NA12414,NA12546,NA12717,NA12748,NA12749,NA12750,NA12751,NA12760,NA12763,NA12775,NA12776,NA12778,NA12815,NA12828,NA12829,NA12830,NA12842,NA12843,NA12873,NA12874,NA12878,NA18486,NA18488,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18508,NA18510,NA18517,NA18519,NA18522,NA18525,NA18526,NA18530,NA18533,NA18534,NA18535,NA18538,NA18544,NA18549,NA18550,NA18552,NA18555,NA18558,NA18560,NA18563,NA18564,NA18565,NA18572,NA18577,NA18595,NA18603,NA18610,NA18612,NA18615,NA18617,NA18620,NA18621,NA18624,NA18625,NA18627,NA18628,NA18630,NA18632,NA18633,NA18634,NA18635,NA18638,NA18640,NA18641,NA18642,NA18643,NA18648,NA18740,NA18747,NA18748,NA18749,NA18757,NA18853,NA18856,NA18861,NA18864,NA18865,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18877,NA18878,NA18879,NA18907,NA18908,NA18909,NA18910,NA18912,NA18915,NA18916,NA18923,NA18924,NA18933,NA18934,NA18939,NA18943,NA18946,NA18948,NA18950,NA18951,NA18956,NA18963,NA18967,NA18968,NA18970,NA18971,NA18972,NA18974,NA18975,NA18976,NA18980,NA18983,NA18984,NA18987,NA18989,NA18991,NA18992,NA18993,NA18994,NA18995,NA18997,NA18998,NA19000,NA19001,NA19004,NA19005,NA19006,NA19011,NA19012,NA19017,NA19019,NA19025,NA19026,NA19027,NA19030,NA19035,NA19036,NA19037,NA19041,NA19055,NA19057,NA19060,NA19062,NA19065,NA19067,NA19068,NA19072,NA19075,NA19079,NA19082,NA19085,NA19086,NA19087,NA19091,NA19092,NA19093,NA19095,NA19096,NA19102,NA19108,NA19114,NA19116,NA19117,NA19118,NA19119,NA19129,NA19130,NA19137,NA19138,NA19141,NA19143,NA19146,NA19147,NA19149,NA19172,NA19175,NA19184,NA19185,NA19190,NA19198,NA19201,NA19206,NA19207,NA19209,NA19210,NA19213,NA19214,NA19223,NA19225,NA19235,NA19236,NA19238,NA19248,NA19256,NA19257,NA19307,NA19308,NA19309,NA19310,NA19314,NA19316,NA19317,NA19318,NA19320,NA19321,NA19323,NA19324,NA19327,NA19328,NA19338,NA19346,NA19350,NA19355,NA19360,NA19372,NA19374,NA19377,NA19378,NA19380,NA19383,NA19384,NA19385,NA19390,NA19391,NA19394,NA19395,NA19397,NA19401,NA19404,NA19428,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19443,NA19445,NA19446,NA19448,NA19452,NA19455,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19472,NA19475,NA19661,NA19663,NA19664,NA19676,NA19678,NA19681,NA19682,NA19700,NA19703,NA19707,NA19711,NA19712,NA19713,NA19716,NA19719,NA19720,NA19722,NA19723,NA19725,NA19728,NA19732,NA19734,NA19735,NA19741,NA19746,NA19747,NA19749,NA19750,NA19755,NA19756,NA19761,NA19762,NA19764,NA19770,NA19773,NA19774,NA19777,NA19779,NA19782,NA19783,NA19786,NA19792,NA19795,NA19818,NA19819,NA19835,NA19908,NA19913,NA19914,NA19917,NA19920,NA19921,NA19922,NA19923,NA19982,NA19984,NA20126,NA20274,NA20281,NA20291,NA20294,NA20299,NA20314,NA20317,NA20318,NA20320,NA20321,NA20332,NA20334,NA20342,NA20346,NA20348,NA20351,NA20355,NA20357,NA20359,NA20362,NA20506,NA20510,NA20512,NA20514,NA20515,NA20518,NA20521,NA20524,NA20525,NA20527,NA20530,NA20533,NA20535,NA20536,NA20539,NA20544,NA20581,NA20585,NA20586,NA20588,NA20589,NA20753,NA20755,NA20757,NA20758,NA20759,NA20767,NA20768,NA20769,NA20770,NA20771,NA20774,NA20775,NA20783,NA20786,NA20790,NA20796,NA20797,NA20798,NA20801,NA20802,NA20804,NA20805,NA20806,NA20807,NA20809,NA20810,NA20812,NA20814,NA20818,NA20819,NA20821,NA20822,NA20826,NA20828,NA20832,NA20846,NA20847,NA20849,NA20852,NA20856,NA20859,NA20862,NA20864,NA20866,NA20867,NA20872,NA20874,NA20876,NA20878,NA20881,NA20884,NA20885,NA20887,NA20892,NA20895,NA20896,NA20901,NA20906,NA20908,NA20911,NA21086,NA21087,NA21093,NA21095,NA21099,NA21103,NA21104,NA21106,NA21107,NA21108,NA21109,NA21110,NA21112,NA21113,NA21114,NA21115,NA21119,NA21122,NA21125,NA21126,NA21128,NA21129,NA21137,NA21142,NA21143 nsv4041717 1 10482502 10483768 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857384 M 10847 0 1 "" nsv5426773 1 10482502 10483768 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890727 M 3202 0 1 "" esv2853569 1 10482502 10483801 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7123136 M 1 0 1 "" HuRef dgv6n172 1 10482503 10483779 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4432908,nsv4432907 M 15 0 8 "" BTQ016,BTQ038,BTQ055,NB07,NB11,NB12,SMI034,SMI041 nsv1154073 1 10482548 10483796 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003342 M 1 0 1 "" KWB1 esv26404 1 10482550 10483507 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14503 M 40 0 7 "" NA07037,NA12004,NA12749,NA15510,NA18517,NA18909,NA19129 dgv103n54 1 10482583 10483167 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545388,nsv545390,nsv545386,nsv545385 M 17421 4 0 "" dgv104n54 1 10482583 10483456 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545392,nsv545391,nsv545389,nsv545387 M 17421 0 188 "" nsv545393 1 10483001 10483456 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709912 M 17421 0 1 "" nsv545394 1 10483161 10483456 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709915,nssv709920,nssv709918,nssv709917,nssv709914,nssv709919,nssv709913,nssv709916 M 17421 0 8 "" nsv6331958 1 10487925 10488836 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050294 M 19652 0 1 "" nsv4045540 1 10487927 10488787 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857394 M 10847 0 1 "" nsv4035612 1 10502523 10502926 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857401 M 10847 0 1 APITD1,APITD1-CORT nsv4040429 1 10503527 10503938 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857411 M 10847 0 1 APITD1-CORT nsv6541101 1 10505327 10505769 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247205 M 19652 0 0 APITD1-CORT nsv5870088 1 10507391 10508717 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356552 M 914 0 1 APITD1-CORT nsv5827679 1 10507454 10508760 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452168 M 914 0 0 APITD1-CORT nsv5429055 1 10509090 10513423 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890750 M 3202 0 1 APITD1-CORT,CORT nsv4043057 1 10515117 10515579 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965406 M 10847 1 0 "" nsv6138766 1 10515756 10515808 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890761 M 3202 1 0 "" nsv6324138 1 10518858 10524090 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050345 M 19652 0 1 DFFA nsv6550300 1 10520022 10520582 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247209 M 19652 0 0 "" nsv4517873 1 10520459 10520613 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857428 M 10847 0 1 DFFA nsv4039695 1 10521000 10529000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857438 M 10847 0 1 DFFA nsv6329736 1 10521010 10528897 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050350 M 19652 0 1 DFFA nsv6325590 1 10521198 10522115 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050351 M 19652 0 1 DFFA nsv5428317 1 10522113 10522355 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16890783 M 3202 0 1 DFFA nsv5420361 1 10522189 10523957 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891720 M 3202 0 1 DFFA nsv6541853 1 10524203 10524774 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247210 M 19652 0 0 DFFA nsv6055702 1 10526034 10526034 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526961 M 405 1 0 DFFA nsv1075141 1 10526339 10526414 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769145 M 1 0 1 DFFA KWP1 nsv6537041 1 10530505 10531122 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247211 M 19652 0 0 DFFA nsv5428559 1 10537219 10537986 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891731 M 3202 0 1 PEX14 nsv5416666 1 10537761 10541576 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891742 M 3202 0 1 PEX14 esv2743674 1 10542585 10549257 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6756545 M 96 0 1 PEX14 SSM059 nsv6335417 1 10543375 10544435 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050377 M 19652 0 1 PEX14 nsv5827573 1 10543468 10545967 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458409 M 914 0 0 PEX14 esv3585201 1 10543545 10545992 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853191,essv9853209,essv9853185,essv9853216,essv9853196,essv9853214,essv9853186,essv9853210,essv9853189,essv9853215,essv9853194,essv9853211,essv9853188,essv9853213,essv9853183,essv9853212,essv9853184,essv9853177,essv9853207,essv9853192,essv9853176,essv9853199,essv9853190,essv9853200,essv9853187,essv9853206,essv9853193,essv9853203,essv9853195,essv9853202,essv9853182,essv9853201,essv9853178,essv9853198,essv9853181,essv9853208,essv9853180,essv9853204,essv9853179,essv9853205,essv9853197 M 2504 0 41 PEX14 HG00551,HG01443,HG02051,HG02325,HG02339,HG02433,HG02476,HG02621,HG02703,HG02855,HG02887,HG02952,HG02976,HG03025,HG03162,HG03189,HG03199,HG03304,HG03352,HG03410,HG03449,HG03521,NA18499,NA18870,NA18917,NA19019,NA19041,NA19092,NA19098,NA19138,NA19338,NA19347,NA19351,NA19372,NA19380,NA19399,NA19713,NA20296,NA20317,NA20318,NA20351 nsv5580369 1 10543553 10545993 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059822 M 35 0 1 PEX14 NA19983 nsv5883767 1 10543553 10545993 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366309 M 914 0 1 PEX14 esv2662921 1 10543553 10545994 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6012579,essv6283446,essv6578484,essv5653749,essv5518392,essv5967521,essv5923144,essv6081180,essv5786737,essv5809170,essv6400559 M 1151 0 11 PEX14 NA18499,NA19138,NA19313,NA19338,NA19347,NA19372,NA19380,NA19399,NA19713,NA20296,NA20317 nsv5420415 1 10543553 10545994 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891753 M 3202 0 1 PEX14 nsv4032727 1 10543592 10545994 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856730 M 10847 0 1 PEX14 nsv6316145 1 10543607 10545994 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050379 M 19652 0 1 PEX14 esv2421360 1 10543836 10545046 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5120264,essv5138311,essv5030172,essv5023863,essv5043282,essv5087529,essv5005178,essv5145841,essv5037011,essv5061676,essv5160550,essv5111430,essv5057594,essv5072629,essv5160849,essv5099736,essv5088559,essv5148686,essv5154504,essv5102680,essv5125662,essv5010570,essv5079670,essv5151994,essv5094667,essv5118967,essv5122639,essv5151853,essv5074992,essv5115009,essv5142946 M 1184 0 31 PEX14 NA07045,NA18497,NA18499,NA18870,NA18917,NA18930,NA19010,NA19041,NA19098,NA19138,NA19178,NA19180,NA19192,NA19194,NA19347,NA19399,NA19713,NA19983,NA20288,NA21295,NA21333,NA21339,NA21356,NA21390,NA21399,NA21401,NA21418,NA21436,NA21634,NA21636,NA21682 nsv6330428 1 10546032 10547708 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050380 M 19652 0 1 PEX14 nsv4041644 1 10551549 10552433 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15856740 M 10847 0 1 PEX14 nsv2521 1 10553530 10598171 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7460 M 9 0 1 PEX14 NA12156 nsv4458580 1 10558038 10558039 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025522 M 10847 1 0 PEX14 nsv4040771 1 10560400 10560506 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857135 M 10847 0 1 PEX14 nsv4046710 1 10560922 10565100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857145 M 10847 0 1 PEX14 nsv4044854 1 10563003 10563168 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857156 M 10847 0 1 PEX14 nsv4738885 1 10563312 10563401 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16286699 M 25 0 1 PEX14 nsv5980561 1 10563350 10563422 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529337 M 405 0 1 PEX14 nsv8435 1 10568184 10572374 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv24613 M 31 1 0 PEX14 NA18942 nsv5827892 1 10573760 10580202 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468785 M 914 0 0 PEX14 nsv5875408 1 10573810 10579667 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364603 M 914 0 1 PEX14 nsv5423053 1 10573810 10579668 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16891775 M 3202 0 1 PEX14 nsv6254365 1 10578553 10578553 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17855737 M 1021 1 0 PEX14 nsv6321851 1 10578890 10584132 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050424 M 19652 0 1 PEX14 nsv4051388 1 10578891 10584132 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857166 M 10847 0 1 PEX14 nsv545395 1 10584672 10613660 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709921 M 17421 0 1 PEX14 nsv6549575 1 10587412 10587731 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247223 M 19652 0 0 PEX14 nsv1122295 1 10587488 10587548 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969746 M 2 0 1 PEX14 KWS2 nsv1015079 1 10611403 10645176 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478770 M 11257 0 1 PEX14 esv3577733 1 10616287 10626248 CNV loss Uddin_et_al_2014 25503493 SNP array essv9796755 M 873 0 1 PEX14 400312CR nsv6254476 1 10622439 10622439 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17855764 M 1021 1 0 PEX14 nsv4458479 1 10622564 10622565 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025531 M 10847 1 0 PEX14 nsv1009596 1 10626249 10652605 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3697890 M 11257 0 1 PEX14 nsv4033970 1 10635468 10636009 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965407 M 10847 1 0 PEX14 nsv6326454 1 10636458 10644057 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050550 M 19652 0 1 PEX14 nsv5879371 1 10636608 10644046 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351866 M 914 0 1 PEX14 esv2665377 1 10636608 10644047 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5429703,essv6424485,essv6439025,essv5972417,essv6266846,essv5594923,essv5706757,essv5984430,essv5520917,essv6051253,essv6184945,essv6575127,essv6306352,essv6473433,essv6246970 M 1151 0 15 PEX14 HG00531,HG00580,HG00595,HG00610,HG00650,HG00654,HG00692,NA18545,NA18560,NA18574,NA18596,NA18627,NA18631,NA19072,NA19088 nsv4390856 1 10636609 10644047 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15703737 M 174 0 1 PEX14 nsv4737777 1 10636609 10644048 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289846 M 25 0 1 PEX14 esv2743685 1 10636609 10644050 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863948,essv6689252,essv6874696,essv6669155,essv6892313,essv6916640,essv6859178,essv6821174,essv6883252,essv6748276,essv6898606,essv6832592,essv6925683,essv6666889,essv6839962,essv6853226,essv6773433,essv6679160,essv6902524 M 96 0 19 PEX14 SSM003,SSM005,SSM008,SSM013,SSM019,SSM030,SSM033,SSM036,SSM066,SSM079,SSM082,SSM084,SSM087,SSM088,SSM089,SSM092,SSM095,SSM098,SSM100 nsv5980568 1 10636611 10644047 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534121 M 405 0 1 PEX14 nsv4036067 1 10636614 10644047 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857176 M 10847 0 1 PEX14 nsv5424443 1 10636614 10644047 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892453 M 3202 0 1 PEX14 esv3585202 1 10636627 10644066 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853283,essv9853276,essv9853281,essv9853277,essv9853284,essv9853279,essv9853287,essv9853278,essv9853285,essv9853275,essv9853292,essv9853273,essv9853223,essv9853286,essv9853274,essv9853218,essv9853291,essv9853272,essv9853226,essv9853282,essv9853225,essv9853280,essv9853227,essv9853290,essv9853221,essv9853288,essv9853224,essv9853289,essv9853222,essv9853244,essv9853217,essv9853257,essv9853220,essv9853241,essv9853219,essv9853254,essv9853270,essv9853228,essv9853256,essv9853263,essv9853247,essv9853246,essv9853240,essv9853262,essv9853238,essv9853260,essv9853239,essv9853271,essv9853255,essv9853258,essv9853265,essv9853266,essv9853249,essv9853251,essv9853264,essv9853243,essv9853233,essv9853259,essv9853229,essv9853230,essv9853253,essv9853232,essv9853261,essv9853235,essv9853248,essv9853242,essv9853234,essv9853231,essv9853237,essv9853267,essv9853269,essv9853250,essv9853252,essv9853236,essv9853245,essv9853268 M 2504 0 76 PEX14 HG00531,HG00580,HG00595,HG00610,HG00650,HG00654,HG00692,HG00717,HG01046,HG01403,HG01600,HG01794,HG01797,HG01801,HG01813,HG01841,HG01842,HG01845,HG01848,HG01849,HG01850,HG01868,HG01869,HG01874,HG02017,HG02028,HG02031,HG02032,HG02035,HG02040,HG02049,HG02078,HG02084,HG02085,HG02086,HG02088,HG02127,HG02141,HG02164,HG02181,HG02351,HG02355,HG02367,HG02373,HG02374,HG02375,HG02379,HG02382,HG02384,HG02392,HG02396,HG02398,HG02399,HG02402,HG02409,HG02522,HG02597,HG02604,HG03598,HG03826,HG03920,HG03925,HG04152,NA18545,NA18550,NA18560,NA18574,NA18596,NA18627,NA18631,NA18647,NA18740,NA18747,NA19072,NA19088,NA19090 nsv3196468 1 10637038 10637246 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14324582 M 9 0 1 PEX14 NA19240 nsv6550456 1 10637275 10637887 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247227 M 19652 0 0 PEX14 nsv5980634 1 10637607 10637660 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524387 M 405 0 1 PEX14 nsv5827687 1 10637671 10644073 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468226 M 914 0 0 PEX14 nsv6331878 1 10637858 10640157 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050555 M 19652 0 1 PEX14 nsv517464 1 10638604 10643197 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv685750,nssv693755,nssv679135,nssv681545,nssv683372,nssv652091 M 2026 0 6 PEX14 nsv818777 1 10638604 10643197 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417173 M 112 0 1 PEX14 NA18550 nsv5827584 1 10641671 10644073 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456373 M 914 0 0 PEX14 nsv5683700 1 10647977 10647977 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203618 M 3202 1 0 PEX14 nsv4458483 1 10649124 10649125 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025540 M 10847 1 0 PEX14 esv275132 1 10656324 10657912 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2586077 M 1250 0 1 PEX14 nsv4047349 1 10659038 10659348 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965408 M 10847 1 0 PEX14 nsv6331525 1 10659038 10659348 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199190 M 19652 1 0 PEX14 nsv6316198 1 10660383 10661224 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050597 M 19652 0 1 PEX14 nsv4032494 1 10669295 10677088 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857184 M 10847 0 1 PEX14 esv3577734 1 10671392 10681703 CNV loss Uddin_et_al_2014 25503493 SNP array essv9796977,essv9796866 M 873 0 2 PEX14 401427CB,401519SA nsv4458799 1 10671759 10671760 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025550 M 10847 1 0 PEX14 dgv105n54 1 10673094 10796866 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545396,nsv545397,nsv545398,nsv545399,nsv545402 M 17421 0 5 CASZ1,PEX14 1780862093_A,1780862573_A dgv4n27 1 10673194 10796866 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv464505,nsv465061 M 1557 0 2 CASZ1,PEX14 1780862093_A,1780862573_A nsv953454 1 10676301 10784700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001745 M 1 0 1 CASZ1,PEX14 BILGI_BIOE nsv6329004 1 10676657 10678728 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051567 M 19652 0 1 PEX14 esv29966 1 10676800 10874152 CNV loss Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv84205 M 2 0 1 CASZ1,PEX14 HuRef nsv828030 1 10677562 10795161 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436327 M 31 1 0 CASZ1,PEX14 NA18542 nsv4042448 1 10682344 10682421 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857194 M 10847 0 1 PEX14 nsv545400 1 10684098 10842021 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709925 M 17421 0 1 CASZ1,PEX14 nsv4042412 1 10688059 10689436 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857202 M 10847 0 1 PEX14 nsv464949 1 10690948 10757199 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv540805 M 1557 0 1 CASZ1 1780862345_A nsv545401 1 10690948 10757199 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173667 M 17421 0 1 CASZ1 1780862345_A nsv525693 1 10694125 10840905 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701852 M 2026 0 1 CASZ1 nsv828141 1 10695477 10704197 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1423940 M 31 1 0 CASZ1 NA18947 nsv4518390 1 10695966 10696076 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965409 M 10847 1 0 "" nsv828252 1 10697810 10703034 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1433409 M 31 1 0 CASZ1 NA18526 nsv828364 1 10697810 10764164 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440798 M 31 1 0 CASZ1 NA18969 nsv1076090 1 10698999 10699300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767973 M 1 0 1 CASZ1 KWP1 nsv1126176 1 10699000 10699300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984405 M 2 0 1 CASZ1 KWS1 nsv436924 1 10704688 10732269 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv466805 M 60 0 1 CASZ1 NA10847 nsv832314 1 10704811 10859919 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442696,nssv1442707,nssv1442718 M 95 0 3 CASZ1 nsv438081 1 10706091 10717597 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv468296,nssv468407 M 269 0 2 CASZ1 NA10847,NA12146 nsv545403 1 10709441 10750432 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709926 M 17421 0 1 CASZ1 nsv508858 1 10710624 10813210 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619768 M 4 1 0 CASZ1 NA10860 nsv818888 1 10719645 10750432 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417515 M 112 0 1 CASZ1 NA18968 dgv42e59 1 10721265 10723063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3385957,esv3442563,esv3359154 M 185 3 0 CASZ1 NA19238,NA19239,NA19240 nsv5886584 1 10721500 10721556 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349697 M 914 0 1 CASZ1 nsv5579980 1 10721553 10721607 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059886 M 35 0 1 CASZ1 HG03065 nsv6040581 1 10721630 10721630 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528908 M 405 1 0 CASZ1 nsv5980643 1 10721631 10721690 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524191 M 405 0 1 CASZ1 nsv5423905 1 10721742 10722557 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892454 M 3202 0 1 CASZ1 esv2743697 1 10721981 10722585 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859179,essv6954733,essv6868704,essv6929054,essv6675193,essv6682818,essv6843877,essv6789144,essv6813162,essv6725845,essv6946483,essv6797441,essv6696984,essv6703857,essv6853227,essv6793275,essv6876721 M 96 0 17 CASZ1 SSM012,SSM020,SSM024,SSM026,SSM032,SSM034,SSM038,SSM040,SSM046,SSM070,SSM071,SSM072,SSM077,SSM085,SSM087,SSM088,SSM090 nsv5582534 1 10722284 10722346 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059887 M 35 0 1 CASZ1 HG00512 nsv5885024 1 10722284 10722346 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367405 M 914 0 1 CASZ1 nsv3525731 1 10722284 10722347 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14323464,nssv14323465 M 9 0 2 CASZ1 HG00512,NA19240 nsv3319061 1 10722286 10722348 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475922,nssv14473528,nssv14480238,nssv14480442,nssv14475218,nssv14488368 M 14 0 6 CASZ1 HG02106,HG02818,HG04217,HX1,NA12878,NA19240 nsv3179402 1 10722291 10722354 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379466 M 9 0 0 CASZ1 NA19240 nsv5980644 1 10722312 10722379 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528928 M 405 0 1 CASZ1 nsv4738172 1 10722322 10722384 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16288801 M 25 0 1 CASZ1 esv997282 1 10731782 10745649 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564310 M 3 0 1 CASZ1 HuRef nsv5557456 1 10735538 10736701 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892457 M 3202 0 0 CASZ1 nsv4048156 1 10736444 10736589 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965410 M 10847 1 0 CASZ1 nsv5430225 1 10736930 10737370 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892467 M 3202 0 1 CASZ1 esv2758921 1 10742502 11055147 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757723 M 270 0 12 C1orf127,CASZ1 NA10846,NA10857,NA12234,NA12248,NA18504,NA18558,NA18563,NA18570,NA18854,NA18970,NA18987,NA19143 nsv6326044 1 10747762 10748297 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051757 M 19652 0 1 CASZ1 nsv1075150 1 10750999 10756100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772699 M 1 0 1 CASZ1 KWP1 nsv8546 1 10752927 10756767 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv28926,nssv28027 M 31 2 0 CASZ1 NA07029,NA12740 esv3656782 1 10753554 10753554 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16480307 M 20 1 0 CASZ1 nsv1121748 1 10754100 10755800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968397 M 2 0 1 CASZ1 KWS2 nsv4536742 1 10754737 10754738 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025559 M 10847 1 0 CASZ1 nsv4034310 1 10754957 10755022 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857221 M 10847 0 1 CASZ1 nsv465172 1 10757199 10796866 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541028 M 1557 0 1 CASZ1 1780862416_A nsv545404 1 10757199 10796866 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173669 M 17421 0 1 CASZ1 1780862416_A nsv5428976 1 10759079 10762523 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892468 M 3202 0 1 CASZ1 nsv5623510 1 10759765 10759765 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059895 M 35 1 0 CASZ1 HG03065 nsv465283 1 10767902 10815421 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541114 M 1557 0 1 CASZ1 NINDS_198 nsv545405 1 10767902 10815421 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173670 M 17421 0 1 CASZ1 NINDS_198 esv3655440 1 10775654 10775781 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16463459 M 20 0 1 CASZ1 nsv5576954 1 10775847 10775929 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059897 M 35 0 1 CASZ1 HG00512 nsv4737150 1 10775847 10775930 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289119 M 25 0 1 CASZ1 nsv5980575 1 10775847 10775930 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536644 M 405 0 1 CASZ1 nsv3319709 1 10775864 10775926 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477666 M 14 0 1 CASZ1 NA19240 nsv3171025 1 10775869 10775931 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390734 M 9 0 0 CASZ1 NA19240 nsv3048771 1 10775869 10775952 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14036260 M 2 0 1 CASZ1 NA12878 esv3661441 1 10775989 10776157 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16463513 M 20 0 1 CASZ1 nsv4048276 1 10780553 10809850 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965411 M 10847 1 0 CASZ1 nsv6330890 1 10787606 10790631 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051033 M 19652 0 1 CASZ1 esv3656945 1 10801017 10801017 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16480454 M 20 1 0 CASZ1 esv2743708 1 10804026 10805348 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6874698,essv6784521,essv6863949,essv6750590,essv6859180,essv6800709,essv6906092,essv6761848,essv6748287,essv6753490,essv6816574,essv6707259,essv6735972,essv6925685,essv6666890,essv6695621,essv6843878,essv6839963,essv6847004,essv6807366,essv6769510,essv6816676,essv6764155,essv6742133,essv6733475,essv6759037,essv6744928,essv6961543,essv6921709,essv6972330,essv6950545,essv6718843,essv6853228,essv6679161,essv6747768,essv6933297,essv6738805,essv6773434,essv6910034,essv6876732,essv6703858,essv6756546 M 96 0 42 CASZ1 SSM002,SSM006,SSM007,SSM008,SSM009,SSM010,SSM012,SSM014,SSM015,SSM018,SSM019,SSM021,SSM025,SSM027,SSM029,SSM030,SSM033,SSM040,SSM041,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM057,SSM058,SSM059,SSM061,SSM062,SSM063,SSM065,SSM066,SSM075,SSM078,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM092 nsv3539771 1 10804401 10804401 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441216 M 9 1 0 CASZ1 HG00733 nsv5604986 1 10804401 10804401 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060099,nssv17059899,nssv17059900 M 35 3 0 CASZ1 HG00731,HG03486,NA12878 nsv5583643 1 10804401 10804472 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060098 M 35 0 1 CASZ1 HG00513 nsv3954549 1 10804401 10804569 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181517 M 1 0 1 CASZ1 HG002 nsv5572427 1 10804401 10804616 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060097 M 35 0 1 CASZ1 HG00731 nsv2800571 1 10804402 10804402 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693398,nssv13683806 M 2 2 0 CASZ1 nsv3319264 1 10804402 10804402 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14474442 M 14 1 0 CASZ1 HX1 dgv102n152 1 10804402 10804601 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282741,nsv3279799,nsv3281054 M 9 0 3 CASZ1 HG00514,HG00733,NA19240 nsv3319263 1 10804402 10804617 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485782,nssv14491922,nssv14486988,nssv14486532,nssv14484715 M 14 0 5 CASZ1 HG00733,HG01352,HG02106,NA12878,NA19240 nsv5980719 1 10804403 10804756 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17523578 M 405 1 0 CASZ1 nsv4730812 1 10804414 10804570 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16274233 M 25 0 1 CASZ1 nsv5980720 1 10804418 10804673 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532058 M 405 0 1 CASZ1 esv3657007 1 10804424 10804424 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16480510 M 20 1 0 CASZ1 nsv3184922 1 10804430 10804510 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441218 M 9 0 0 CASZ1 HG00733 nsv5877173 1 10804472 10804787 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354419 M 914 0 1 CASZ1 esv2743719 1 10804518 10804667 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863949,essv6906092,essv6859180,essv6707259,essv6847004,essv6807366 M 96 0 6 CASZ1 SSM014,SSM041,SSM075,SSM086,SSM088,SSM089 nsv3542252 1 10804587 10804587 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374101 M 9 1 0 CASZ1 NA19240 nsv3319265 1 10804588 10804588 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486687 M 14 1 0 CASZ1 NA19240 nsv6043174 1 10804673 10804673 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518373 M 405 1 0 CASZ1 nsv2800572 1 10804767 10804767 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683210 M 2 1 0 CASZ1 esv3657082 1 10804788 10804788 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16480578 M 20 1 0 CASZ1 nsv3533325 1 10804788 10804788 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384342 M 9 1 0 CASZ1 NA19240 nsv5617539 1 10804788 10804788 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060100,nssv17060101 M 35 2 0 CASZ1 HG00732,NA19238 nsv3319063 1 10804789 10804789 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478053,nssv14472710,nssv14480233 M 14 3 0 CASZ1 HG02818,HG04217,NA19240 nsv4537922 1 10805821 10805822 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025569 M 10847 1 0 CASZ1 dgv7n172 1 10807892 10808830 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4432915,nsv4432914 M 15 0 3 CASZ1 NB07,NB08,NB09 nsv6328503 1 10808129 10808830 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051061 M 19652 0 1 CASZ1 nsv4045024 1 10808133 10808830 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857230 M 10847 0 1 CASZ1 nsv5875403 1 10808280 10808333 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367026 M 914 0 1 CASZ1 nsv6330682 1 10814658 10816757 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051065 M 19652 0 1 CASZ1 nsv5885629 1 10818518 10818652 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351739 M 914 0 1 CASZ1 nsv4517643 1 10818533 10818653 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857242 M 10847 0 1 CASZ1 nsv4518007 1 10821618 10821719 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855828 M 10847 0 1 CASZ1 nsv4035610 1 10822956 11050279 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965412 M 10847 1 0 C1orf127,CASZ1 nsv5873511 1 10827157 10827220 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368793 M 914 0 1 CASZ1 nsv5980721 1 10827186 10827249 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517745 M 405 0 1 CASZ1 nsv1113075 1 10829601 10829667 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967965 M 2 0 1 CASZ1 KWS2 nsv5419421 1 10832196 10834742 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892469 M 3202 0 1 CASZ1 esv3435817 1 10836465 10838763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691738 M 185 1 0 CASZ1 NA19240 esv3443222 1 10837465 10838763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691739 M 185 1 0 CASZ1 NA19238 nsv5869959 1 10839524 10855238 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17357242 M 914 1 0 CASZ1 nsv5827696 1 10839569 10854079 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455117 M 914 0 0 CASZ1 nsv6316068 1 10840944 10842838 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051077 M 19652 0 1 CASZ1 nsv5606023 1 10843417 10843417 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059710 M 35 1 0 CASZ1 HG03486 nsv4458811 1 10843417 10843418 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025580 M 10847 1 0 CASZ1 nsv3319495 1 10843418 10843418 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14489544 M 14 1 0 CASZ1 HG02818 nsv5676251 1 10843433 10843433 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17215581,nssv17203619 M 3202 2 0 CASZ1 nsv5408574 1 10843433 10843484 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892471 M 3202 1 0 CASZ1 nsv4751505 1 10845182 10845182 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16290663 M 25 1 0 CASZ1 esv3669693 1 10845192 10845192 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491928 M 20 1 0 CASZ1 nsv3538922 1 10845192 10845192 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441219,nssv14412714 M 9 2 0 CASZ1 HG00514,HG00733 nsv3930591 1 10845192 10845192 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192090 M 1 1 0 CASZ1 HG002 nsv4444597 1 10845192 10845192 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15763501 M 1 1 0 CASZ1 nsv5620044 1 10845192 10845192 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059711 M 35 1 0 CASZ1 HG00732 nsv5963273 1 10845192 10845192 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360942 M 914 1 0 CASZ1 nsv6055495 1 10845192 10845192 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532933 M 405 1 0 CASZ1 nsv2800333 1 10845193 10845193 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13697743 M 2 1 0 CASZ1 nsv3319498 1 10845193 10845193 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477776,nssv14481408,nssv14485670,nssv14475765,nssv14484218 M 14 5 0 CASZ1 CHM1,CHM13,HG00268,HG01352,HX1 nsv3058801 1 10845194 10845194 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029593 M 2 1 0 CASZ1 CHM1 nsv5550728 1 10845225 10845243 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892473 M 3202 1 0 CASZ1 nsv159406 1 10845226 10845226 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv177984 M 24 CASZ1 nsv953455 1 10850201 10857400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001756 M 1 0 1 CASZ1 BILGI_BIOE nsv1075563 1 10852199 10857400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769563 M 1 0 1 CASZ1 KWP1 nsv1118100 1 10852200 10852900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980319 M 2 0 1 CASZ1 KWS1 nsv1143435 1 10856000 10856500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980633 M 2 0 1 CASZ1 KWS1 nsv4034695 1 10857084 10857306 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965414 M 10847 1 0 "" nsv6254587 1 10857480 10857480 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17855804 M 1021 1 0 "" nsv6319406 1 10865238 10885579 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051092 M 19652 0 1 "" nsv6538241 1 10871493 10872198 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247258 M 19652 0 0 "" dgv103n152 1 10877862 10878108 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3202267,nsv3197175 M 9 0 3 "" NA19238,NA19239,NA19240 nsv3051592 1 10877987 10877987 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020133 M 2 1 0 "" NA12878 nsv4754104 1 10877988 10877988 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16272955 M 25 1 0 "" nsv3530805 1 10877989 10877989 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379968 M 9 1 0 "" NA19240 nsv5620000 1 10877997 10877997 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059731 M 35 1 0 "" HG00512 nsv5417057 1 10878000 10878051 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892475 M 3202 0 1 "" nsv2800575 1 10878001 10878001 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688946 M 2 1 0 "" nsv3319724 1 10878001 10878001 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489346,nssv14478827,nssv14485068,nssv14474875 M 14 4 0 "" CHM13,HG01352,HG02106,NA19434 nsv5965856 1 10878001 10878001 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351767 M 914 1 0 "" nsv6054997 1 10878052 10878052 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534067 M 405 1 0 "" nsv5605088 1 10878053 10878053 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059732 M 35 1 0 "" NA19238 nsv2800576 1 10878096 10878096 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689420 M 2 1 0 "" nsv3319281 1 10878096 10878096 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478029,nssv14473665 M 14 2 0 "" CHM13,HG01352 nsv5980501 1 10884689 10884740 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530540 M 405 0 1 "" nsv4746831 1 10884689 10884743 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268127 M 25 0 1 "" nsv6254698 1 10884707 10884707 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17855805 M 1021 1 0 "" nsv1144350 1 10886704 10886770 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995101 M 2 0 1 "" KWS1 nsv4755180 1 10894135 10894135 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16286297 M 25 1 0 "" nsv4033494 1 10894190 10894437 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965415 M 10847 1 0 "" esv3657220 1 10894330 10894330 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16480701 M 20 1 0 "" nsv6055730 1 10894349 10894349 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526085 M 405 1 0 "" nsv5424508 1 10900292 10900703 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892477 M 3202 0 1 "" nsv832425 1 10903845 11122975 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442729,nssv1442741 M 95 0 2 C1orf127,MASP2,SRM,TARDBP nsv5879948 1 10911773 10912758 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349927 M 914 0 1 "" nsv4040544 1 10911773 10912771 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855854 M 10847 0 1 "" nsv6333227 1 10911773 10912771 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051107 M 19652 0 1 "" dgv43e59 1 10912665 10914263 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3401813,esv3379915 M 185 2 0 "" NA19239,NA19240 nsv4039645 1 10912667 10917201 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855864 M 10847 0 1 "" nsv6322756 1 10912667 10917201 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051108 M 19652 0 1 "" nsv1151297 1 10912999 10914400 CNV duplication John_et_al_2014 26484159 Sequencing nssv4003857 M 1 1 0 "" KWB1 esv2418090 1 10913373 10913836 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4522724 M 1 0 1 "" NA18507 esv2659328 1 10913511 10913622 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5711033,essv6516322 M 1151 0 2 "" HG01389,NA19360 nsv6316983 1 10913511 10913622 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051110 M 19652 0 1 "" nsv5980658 1 10913520 10913634 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535205 M 405 0 1 "" nsv4049257 1 10913834 10913912 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965416 M 10847 1 0 "" nsv5417222 1 10913834 10913912 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892478 M 3202 1 0 "" nsv545406 1 10915507 10935232 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709927 M 17421 0 1 "" nsv6055747 1 10931338 10931338 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525366 M 405 1 0 "" esv3585204 1 10935132 10937045 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853315 M 2504 0 1 "" HG02325 nsv5425767 1 10935132 10937063 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892479 M 3202 0 1 "" esv3657280 1 10936127 10936127 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16480756 M 20 1 0 "" nsv4047706 1 10943460 10953269 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855871 M 10847 0 1 "" esv3683049 1 10948175 10948328 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16463753 M 20 0 1 "" esv27036 1 10951426 10952195 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19765 M 40 0 1 "" NA19147 nsv5605673 1 10952044 10952044 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060282 M 35 1 0 "" HG02818 nsv6327559 1 10952487 10958208 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051131 M 19652 0 1 "" nsv5980733 1 10952822 10952965 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536009 M 405 0 1 "" nsv3319082 1 10952844 10952975 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490019 M 14 0 1 "" HG02106 nsv5827594 1 10954212 10956046 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464922 M 914 0 0 "" esv3585205 1 10954251 10956119 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853340,essv9853325,essv9853338,essv9853326,essv9853335,essv9853329,essv9853324,essv9853336,essv9853327,essv9853322,essv9853339,essv9853328,essv9853319,essv9853341,essv9853330,essv9853320,essv9853337,essv9853323,essv9853316,essv9853321,essv9853317,essv9853332,essv9853318,essv9853331,essv9853334,essv9853333 M 2504 0 26 "" HG00255,HG00257,HG00327,HG00640,HG01047,HG01188,HG01248,HG01286,HG01441,HG01762,HG02348,HG02490,HG03015,HG03234,HG03235,HG03673,HG03869,HG03985,HG04235,NA20544,NA20827,NA20876,NA20882,NA20896,NA21086,NA21102 nsv5570347 1 10954262 10956127 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060286 M 35 0 1 "" HG02492 nsv5873643 1 10954262 10956127 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357758 M 914 0 1 "" esv2665603 1 10954262 10956128 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6102736,essv6506565,essv6392155,essv6214075,essv6336021,essv5574397 M 1151 0 6 "" HG00257,HG00327,HG00640,HG01047,HG01188,HG01441 esv3544566 1 10954262 10956161 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9743313 M 767 0 1 "" nsv5422582 1 10954283 10956103 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892480 M 3202 0 1 "" nsv6321590 1 10954283 10956128 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051132 M 19652 0 1 "" nsv6542989 1 10955727 10956132 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247281 M 19652 0 0 "" nsv4036424 1 10964565 10964665 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855891 M 10847 0 1 "" nsv5623137 1 10967105 10967105 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060291 M 35 1 0 "" HG03009 esv3585206 1 10968337 10971432 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853343,essv9853342 M 2504 0 2 "" HG00306,HG01756 nsv5430172 1 10968369 10972727 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892481 M 3202 0 1 "" nsv5557473 1 10979105 11770753 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892482 M 3202 0 0 ANGPTL7,C1orf127,DRAXIN,EXOSC10,FBXO2,FBXO44,FBXO6,LOC101929181,MAD2L2,MASP2,MTOR,MTOR-AS1,PTCHD2,SRM,TARDBP,UBIAD1 nsv6328148 1 10979129 10980035 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199239 M 19652 1 0 "" nsv4516583 1 10979286 10980006 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855921 M 10847 0 1 "" nsv4044372 1 10979354 10980575 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855931 M 10847 0 1 "" nsv6319878 1 10981458 10986157 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051155 M 19652 0 1 "" esv3585207 1 10981542 10986132 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853347,essv9853348,essv9853351,essv9853349,essv9853350,essv9853346,essv9853345,essv9853344 M 2504 0 8 "" HG01131,HG01431,HG01605,HG01676,HG03490,NA12342,NA20513,NA20852 nsv5872466 1 10981595 10986174 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354655 M 914 0 1 "" nsv5433749 1 10981595 10986175 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892483 M 3202 0 1 "" nsv2799691 1 10981597 10986176 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13683475 M 2 0 1 "" nsv3319513 1 10981597 10986176 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476296 M 14 0 1 "" CHM13 nsv5827794 1 10981618 10986232 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452045 M 914 0 0 "" nsv4034340 1 10981627 10986167 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855938 M 10847 0 1 "" nsv516264 1 10983951 10984562 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv662101,nssv693249,nssv655703,nssv683701,nssv676652,nssv680546,nssv667169,nssv688415 M 2026 0 8 "" esv2576089 1 10993351 10993742 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5340923 M 1 0 1 "" NA18507 esv3657399 1 10993376 10993376 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16480863 M 20 1 0 "" esv3585208 1 10996386 11005249 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853352 M 2504 0 1 "" HG01967 nsv5414346 1 10996452 11005034 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892485 M 3202 0 1 "" nsv6319458 1 10996515 11005034 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051159 M 19652 0 1 "" nsv3217337 1 10997833 11031600 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259965,nssv14259967,nssv14259966,nssv14259969,nssv14259970,nssv14259964,nssv14259971,nssv14259968,nssv14259972 M 9 9 0 C1orf127 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4036754 1 10998247 10998924 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855954 M 10847 0 1 "" nsv4041300 1 11006470 11007434 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857451 M 10847 0 1 C1orf127 nsv6327365 1 11006470 11007434 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051163 M 19652 0 1 C1orf127 nsv508869 1 11016257 11068516 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621082 M 4 1 0 C1orf127 NA15510 nsv3180620 1 11020199 11020271 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390379 M 9 0 0 C1orf127 NA19240 nsv6317869 1 11021904 11030527 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199245 M 19652 1 0 C1orf127 nsv6332722 1 11022239 11023182 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050823 M 19652 0 1 C1orf127 nsv6319964 1 11022459 11027986 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199246 M 19652 1 0 C1orf127 nsv6326485 1 11027868 11031150 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050825 M 19652 0 1 C1orf127 nsv4032728 1 11028844 11030073 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857462 M 10847 0 1 C1orf127 esv3350549 1 11030880 11031494 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808880 M 185 1 0 C1orf127 NA12878 nsv5980515 1 11031069 11031153 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17536314 M 405 1 0 C1orf127 nsv3925169 1 11031132 11031132 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192092 M 1 1 0 C1orf127 HG002 nsv4444598 1 11031132 11031132 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15760632 M 1 1 0 C1orf127 nsv5609728 1 11031132 11031132 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060319 M 35 1 0 C1orf127 HG00731 nsv6045497 1 11031132 11031132 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518367 M 405 1 0 C1orf127 dgv104n152 1 11031132 11033031 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3185172,nsv3180543,nsv3187610 M 9 0 0 C1orf127 HG00514,HG00733,NA19240 nsv2800342 1 11031133 11031133 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13707952 M 2 1 0 C1orf127 nsv3051594 1 11031133 11031133 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019477 M 2 1 0 C1orf127 NA12878 nsv3319087 1 11031133 11031133 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473570,nssv14486459,nssv14484867,nssv14477067,nssv14486599,nssv14483652,nssv14482725,nssv14486511,nssv14483135,nssv14478629,nssv14483508,nssv14478330,nssv14486183 M 14 13 0 C1orf127 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv4759800 1 11031138 11031138 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16262837 M 25 1 0 C1orf127 nsv3056750 1 11031153 11031153 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029897 M 2 1 0 C1orf127 CHM1 esv3585209 1 11037040 11038122 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853353 M 2504 0 1 C1orf127 HG00159 nsv5869960 1 11037099 11038108 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362553 M 914 0 1 C1orf127 esv2672799 1 11037099 11038109 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6152639,essv5983863 M 1151 0 2 C1orf127 HG00159,NA12275 nsv5416538 1 11037120 11038109 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892489 M 3202 0 1 C1orf127 nsv1120069 1 11038106 11038308 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3960811 M 2 0 0 C1orf127 KWS1 esv1628805 1 11043232 11043969 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3981893 M 2 0 1 "" HuRef nsv6057695 1 11044112 11044112 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534721 M 405 1 0 "" nsv4757852 1 11044137 11044137 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16266026 M 25 1 0 "" esv3657468 1 11044479 11044479 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16480925 M 20 1 0 "" esv3544788 1 11047331 11047587 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9743535 M 767 0 1 "" dgv35n106 1 11047345 11047582 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1129868,nsv1111842 M 2 0 1 "" KWS2 dgv105n152 1 11047365 11047568 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282373,nsv3279988,nsv3525437 M 9 0 5 "" HG00512,HG00732,HG00733,NA19238,NA19240 nsv5980595 1 11047366 11047564 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519075 M 405 0 1 "" nsv5564570 1 11047366 11047567 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060321 M 35 0 1 "" HG00732 nsv5867766 1 11047366 11047567 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366505 M 914 0 1 "" esv2662381 1 11047366 11047568 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5720584,essv5440880,essv6465606,essv6555945,essv5851900,essv6128419,essv5447251,essv5525759,essv6316900,essv6064408,essv5452933,essv6201977,essv5561746,essv5920462,essv6305653,essv5805915,essv6335635,essv5505243,essv6559648,essv6240799,essv6508160,essv6109622,essv5663133,essv6021875,essv6515497,essv6337611,essv6329390,essv6316945,essv5783768,essv6357302,essv5930700,essv5648267,essv5549122,essv5743147,essv6269166,essv5430063,essv6332073,essv6093483,essv6305333,essv5781072,essv6138378,essv5903998,essv5699324,essv5612890,essv5470616,essv5615971,essv5751467,essv6574670,essv5405619,essv6007818,essv6045511,essv6380770,essv5488718,essv6236805,essv6234478,essv6009754,essv5976608,essv5697224,essv6512722,essv5825190,essv6333252,essv6068969,essv5485064,essv5584705,essv5696708,essv5548051,essv5579407,essv6070651,essv5962033,essv5973037,essv6335154,essv6308605,essv5709547,essv5601699,essv6299525,essv6146736,essv6263141,essv5869025,essv5739901,essv5739593,essv5457022,essv5547299,essv6471514,essv5717658,essv5717769,essv5995402,essv6300077,essv5939117,essv5738792,essv5931041,essv6287952,essv6534157,essv5517160,essv6431577,essv6353241,essv6202367,essv5956916,essv6260030,essv6513314,essv5786227,essv5679130,essv5823600,essv5666478,essv6252506,essv6279130,essv6523698,essv6096098,essv6227774,essv5871565,essv5474614,essv5655334,essv6448967,essv6411635,essv5455746,essv6433432,essv5544517,essv5451468,essv6467569,essv6253209,essv6024297,essv6346694,essv5619379,essv5693266,essv5538199,essv5855547,essv6584690,essv6221787,essv6508632,essv5441133,essv5964103,essv5497467,essv6170651,essv6418784,essv5607976,essv5545353,essv5816499,essv5795829,essv5778207,essv6049273,essv5713743,essv6416147,essv6528587,essv6362235,essv6053443,essv6583916,essv6404905,essv5868985,essv5766577,essv5557476,essv5630354,essv6442607,essv6193841,essv6053161,essv6290449,essv5458362,essv6091590,essv6539880,essv6003015,essv5400161,essv6409136,essv6241958,essv5853157,essv6402208,essv5473452,essv5583520,essv5513511,essv6375908,essv5960330,essv5639999,essv5599961,essv5573427,essv6545229,essv6130655,essv5958889,essv5940305,essv5947430,essv6326493,essv6196104,essv5966696,essv6202839,essv5530612,essv5439128,essv5524322,essv5936736,essv5868341,essv6162208,essv6559022,essv5569369,essv5750022,essv5701236,essv6445439,essv5582376,essv5485570,essv6236434,essv5510919,essv5689219,essv5960148,essv5672754,essv5681928,essv6321461,essv6437321,essv5767747,essv6350427,essv6225298,essv5980281,essv5434105,essv6415869,essv5599018,essv5564829,essv6321049,essv5826318,essv6287316,essv5530106,essv5697634,essv6062839,essv6154630,essv6190650,essv6539405,essv5425046,essv6220218,essv6361865,essv6346110,essv5555386,essv5683765,essv6548431,essv6538800,essv6561520,essv5929512,essv6232497,essv6176945,essv5851731,essv5525040,essv6439577,essv5627126,essv5704840,essv6346323,essv6583201,essv6596570,essv6424915,essv6149338,essv6114765,essv5442154,essv5573327,essv6220755 M 1151 0 244 "" HG00098,HG00103,HG00111,HG00115,HG00116,HG00139,HG00141,HG00145,HG00154,HG00159,HG00176,HG00189,HG00239,HG00249,HG00250,HG00252,HG00268,HG00278,HG00308,HG00310,HG00313,HG00318,HG00324,HG00326,HG00346,HG00353,HG00357,HG00361,HG00368,HG00372,HG00375,HG00419,HG00422,HG00437,HG00442,HG00463,HG00464,HG00478,HG00512,HG00524,HG00551,HG00581,HG00608,HG00637,HG00641,HG00656,HG00683,HG00690,HG00699,HG00732,HG00734,HG00736,HG01051,HG01052,HG01069,HG01082,HG01107,HG01124,HG01134,HG01170,HG01174,HG01177,HG01190,HG01204,HG01251,HG01357,HG01374,HG01377,HG01383,HG01384,HG01455,HG01456,HG01491,HG01522,HG01551,NA07056,NA07346,NA07347,NA07357,NA11920,NA11933,NA11994,NA12045,NA12058,NA12154,NA12155,NA12273,NA12749,NA12763,NA12775,NA12827,NA12829,NA12843,NA18486,NA18489,NA18499,NA18505,NA18510,NA18517,NA18519,NA18523,NA18534,NA18542,NA18543,NA18546,NA18548,NA18564,NA18593,NA18596,NA18602,NA18612,NA18631,NA18632,NA18853,NA18856,NA18867,NA18874,NA18908,NA18916,NA18917,NA18923,NA18924,NA18933,NA18953,NA19058,NA19085,NA19114,NA19116,NA19129,NA19172,NA19189,NA19197,NA19235,NA19236,NA19247,NA19257,NA19312,NA19313,NA19315,NA19319,NA19327,NA19331,NA19332,NA19346,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19375,NA19376,NA19377,NA19380,NA19381,NA19382,NA19383,NA19384,NA19390,NA19391,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19401,NA19403,NA19404,NA19428,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19440,NA19443,NA19448,NA19449,NA19451,NA19453,NA19455,NA19457,NA19461,NA19466,NA19467,NA19472,NA19661,NA19663,NA19664,NA19670,NA19684,NA19703,NA19704,NA19711,NA19712,NA19717,NA19720,NA19759,NA19761,NA19770,NA19788,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19908,NA19916,NA19920,NA19985,NA20127,NA20276,NA20281,NA20287,NA20317,NA20340,NA20342,NA20344,NA20346,NA20348,NA20356,NA20505,NA20513,NA20516,NA20517,NA20536,NA20581,NA20586,NA20761,NA20766,NA20771,NA20783,NA20786,NA20790,NA20796,NA20797,NA20804,NA20805,NA20813 nsv4749417 1 11047367 11047567 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285177 M 25 0 1 "" nsv3319518 1 11047368 11047568 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486965,nssv14479297,nssv14479371,nssv14477470,nssv14485934 M 14 0 5 "" HG00268,HG00733,HG02818,NA19240,NA19434 nsv5428700 1 11047388 11047566 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892490 M 3202 0 1 "" nsv5885665 1 11047465 11047516 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360804 M 914 0 1 "" nsv954749 1 11047515 11047699 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000505 M 1 0 1 "" BILGI_BIOE nsv6045213 1 11047517 11047517 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518898,nssv17529989 M 405 2 0 "" nsv6042944 1 11047546 11047546 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528144 M 405 1 0 "" nsv4458601 1 11047568 11047569 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025620 M 10847 1 0 "" nsv5686087 1 11047590 11047590 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17223798,nssv17203620 M 3202 2 0 "" nsv5615444 1 11048113 11048113 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060322 M 35 1 0 "" HG00732 nsv3319519 1 11048115 11048115 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485556,nssv14473573 M 14 2 0 "" HG02818,NA19240 nsv3536412 1 11048152 11048152 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441221 M 9 1 0 "" HG00733 nsv6056934 1 11048152 11048152 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535143 M 405 1 0 "" nsv3319088 1 11048153 11048153 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478128 M 14 1 0 "" HG00733 nsv3540281 1 11048160 11048160 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386415 M 9 1 0 "" NA19240 nsv5605225 1 11048276 11048276 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060323 M 35 1 0 "" HG02011 nsv5607076 1 11051277 11051277 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059901 M 35 1 0 "" NA12878 nsv5422971 1 11051290 11054607 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892492 M 3202 1 0 "" nsv4517991 1 11051326 11054711 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965417 M 10847 1 0 "" esv3450829 1 11051365 11053963 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691745 M 185 1 0 "" NA12878 nsv6320764 1 11051391 11054782 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199248 M 19652 1 0 "" nsv6324330 1 11053582 11059047 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199250 M 19652 1 0 "" nsv6537949 1 11054112 11054950 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247312 M 19652 0 0 "" nsv4036541 1 11054170 11070751 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857486 M 10847 0 1 "" nsv6324684 1 11054311 11055714 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050836 M 19652 0 1 "" nsv4044425 1 11054539 11054980 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965418 M 10847 1 0 "" dgv13e199 1 11054562 11056071 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2665986,esv2657332 M 1151 0 7 "" HG00537,HG00596,NA19350,NA19375,NA19383,NA19776,NA20340 esv2743730 1 11054636 11055761 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6800821,essv6804397,essv6921710,essv6807367,essv6910035,essv6902525 M 96 0 6 "" SSM002,SSM013,SSM015,SSM018,SSM074,SSM075 nsv5827598 1 11054668 11055767 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453553 M 914 0 0 "" dgv18n209 1 11054670 11056070 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5879007,nsv5876023 M 914 0 2 "" nsv5980517 1 11054685 11055752 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536775 M 405 0 1 "" dgv24n166 1 11054685 11056064 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4045856,nsv4044062 M 10847 0 2 "" nsv5425241 1 11054703 11055904 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892494 M 3202 0 1 "" esv3585210 1 11054703 11056117 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853359,essv9853356,essv9853358,essv9853357,essv9853360,essv9853354,essv9853355 M 2504 0 7 "" HG02484,HG02771,NA18489,NA19350,NA19375,NA19383,NA20340 nsv3207740 1 11054728 11064025 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255714 M 9 0 1 "" NA19240 nsv5876429 1 11055187 11055962 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369633 M 914 0 1 "" nsv5432793 1 11055216 11055942 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892496 M 3202 0 1 "" dgv46n223 1 11055543 11056941 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6555288,nsv6544799 M 19652 0 0 "" nsv4040070 1 11055722 11055962 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857275 M 10847 0 1 "" nsv6549785 1 11055737 11056232 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247318 M 19652 0 0 "" nsv6535694 1 11055890 11056617 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247319 M 19652 0 0 "" nsv6041224 1 11057319 11057319 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524907 M 405 1 0 "" nsv5681424 1 11057355 11057355 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17225139 M 3202 1 0 "" esv2592186 1 11059704 11063290 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5335168 M 1 0 1 "" NA18507 nsv545407 1 11060075 11438026 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709928 M 17421 1 0 ANGPTL7,EXOSC10,MASP2,MTOR,MTOR-AS1,SRM,TARDBP,UBIAD1 esv3585211 1 11060112 11062310 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853387,essv9853440,essv9853375,essv9853435,essv9853380,essv9853465,essv9853373,essv9853446,essv9853374,essv9853457,essv9853379,essv9853429,essv9853371,essv9853468,essv9853381,essv9853455,essv9853377,essv9853466,essv9853384,essv9853427,essv9853386,essv9853438,essv9853383,essv9853416,essv9853385,essv9853412,essv9853378,essv9853389,essv9853376,essv9853463,essv9853382,essv9853430,essv9853372,essv9853415,essv9853543,essv9853369,essv9853420,essv9853574,essv9853362,essv9853461,essv9853562,essv9853365,essv9853423,essv9853568,essv9853367,essv9853400,essv9853557,essv9853366,essv9853410,essv9853564,essv9853370,essv9853428,essv9853572,essv9853364,essv9853434,essv9853551,essv9853368,essv9853425,essv9853539,essv9853363,essv9853399,essv9853558,essv9853361,essv9853422,essv9853550,essv9853436,essv9853563,essv9853403,essv9853553,essv9853402,essv9853565,essv9853470,essv9853552,essv9853478,essv9853535,essv9853472,essv9853566,essv9853418,essv9853570,essv9853471,essv9853555,essv9853452,essv9853541,essv9853467,essv9853556,essv9853464,essv9853542,essv9853411,essv9853546,essv9853462,essv9853536,essv9853391,essv9853538,essv9853404,essv9853578,essv9853473,essv9853575,essv9853443,essv9853537,essv9853437,essv9853559,essv9853424,essv9853554,essv9853433,essv9853569,essv9853442,essv9853577,essv9853450,essv9853548,essv9853480,essv9853549,essv9853476,essv9853571,essv9853394,essv9853560,essv9853401,essv9853561,essv9853454,essv9853544,essv9853426,essv9853545,essv9853441,essv9853576,essv9853407,essv9853573,essv9853458,essv9853540,essv9853459,essv9853547,essv9853397,essv9853567,essv9853453,essv9853507,essv9853408,essv9853502,essv9853393,essv9853494,essv9853388,essv9853493,essv9853439,essv9853521,essv9853431,essv9853506,essv9853390,essv9853498,essv9853445,essv9853510,essv9853413,essv9853528,essv9853409,essv9853499,essv9853432,essv9853516,essv9853475,essv9853512,essv9853405,essv9853518,essv9853395,essv9853527,essv9853469,essv9853534,essv9853392,essv9853515,essv9853448,essv9853522,essv9853479,essv9853525,essv9853474,essv9853508,essv9853421,essv9853504,essv9853447,essv9853532,essv9853451,essv9853492,essv9853406,essv9853533,essv9853398,essv9853509,essv9853449,essv9853496,essv9853396,essv9853505,essv9853419,essv9853503,essv9853414,essv9853531,essv9853456,essv9853524,essv9853417,essv9853491,essv9853460,essv9853514,essv9853444,essv9853519,essv9853477,essv9853530,essv9853481,essv9853500,essv9853490,essv9853526,essv9853483,essv9853513,essv9853485,essv9853511,essv9853482,essv9853520,essv9853489,essv9853523,essv9853484,essv9853495,essv9853488,essv9853517,essv9853487,essv9853529,essv9853486,essv9853501,essv9853497 M 2504 0 218 "" HG00638,HG00640,HG01075,HG01086,HG01097,HG01161,HG01167,HG01176,HG01326,HG01414,HG01708,HG01880,HG01882,HG01883,HG01886,HG02051,HG02053,HG02090,HG02095,HG02283,HG02309,HG02334,HG02419,HG02442,HG02461,HG02464,HG02476,HG02481,HG02489,HG02496,HG02505,HG02508,HG02549,HG02561,HG02568,HG02571,HG02573,HG02582,HG02585,HG02594,HG02595,HG02614,HG02628,HG02635,HG02645,HG02666,HG02667,HG02715,HG02728,HG02757,HG02759,HG02763,HG02769,HG02771,HG02799,HG02814,HG02817,HG02819,HG02837,HG02852,HG02860,HG02870,HG02879,HG02881,HG02888,HG02891,HG02895,HG02946,HG02952,HG03021,HG03048,HG03054,HG03055,HG03057,HG03061,HG03063,HG03064,HG03069,HG03072,HG03079,HG03085,HG03100,HG03108,HG03123,HG03126,HG03127,HG03129,HG03130,HG03133,HG03193,HG03195,HG03202,HG03224,HG03246,HG03265,HG03270,HG03271,HG03291,HG03297,HG03300,HG03301,HG03304,HG03311,HG03342,HG03351,HG03366,HG03367,HG03369,HG03376,HG03382,HG03385,HG03397,HG03432,HG03439,HG03445,HG03452,HG03464,HG03469,HG03470,HG03478,HG03484,HG03485,HG03515,HG03518,HG03547,HG03559,HG03565,HG03572,HG03577,HG03858,NA18489,NA18499,NA18502,NA18507,NA18508,NA18510,NA18603,NA18858,NA18908,NA18912,NA18916,NA18917,NA18923,NA19020,NA19026,NA19030,NA19043,NA19096,NA19099,NA19118,NA19137,NA19144,NA19160,NA19171,NA19184,NA19190,NA19197,NA19207,NA19209,NA19238,NA19248,NA19257,NA19308,NA19312,NA19314,NA19315,NA19316,NA19319,NA19327,NA19346,NA19347,NA19350,NA19351,NA19355,NA19375,NA19376,NA19380,NA19383,NA19390,NA19395,NA19397,NA19401,NA19403,NA19429,NA19434,NA19437,NA19443,NA19445,NA19448,NA19456,NA19463,NA19466,NA19467,NA19468,NA19473,NA19475,NA19700,NA19703,NA19704,NA19711,NA19712,NA19834,NA19835,NA19909,NA19916,NA19917,NA19982,NA20276,NA20278,NA20287,NA20291,NA20339,NA20340,NA20342,NA20346,NA20348,NA20356,NA20362 nsv6326113 1 11060114 11060430 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050838 M 19652 0 1 "" nsv3198347 1 11060114 11062302 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14326850,nssv14326851 M 9 0 2 "" NA19238,NA19240 nsv5575350 1 11060114 11062305 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059907 M 35 0 1 "" NA19238 nsv5879013 1 11060114 11062305 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369361 M 914 0 1 "" esv2662761 1 11060114 11062306 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5532380,essv6058296,essv5643423,essv6028616,essv6586106,essv6086288,essv5547308,essv5458820,essv6220301,essv6356685,essv5625352,essv6579638,essv5750123,essv6566613,essv6353285,essv6183321,essv6561507,essv6467649,essv6263697,essv5531541,essv6060257,essv6380777,essv5497175,essv6345451,essv5486702,essv5603320,essv6143553,essv5764472,essv6195875,essv6481119,essv5791211,essv6003595,essv5662489,essv6240552,essv6500641,essv6441657,essv5829346,essv5668688,essv6302129,essv6432554,essv5483712,essv5716359,essv6458991,essv5419469,essv5904274,essv5472909,essv5602019 M 1151 0 47 "" HG00638,HG00640,HG01167,NA18489,NA18499,NA18510,NA18603,NA19248,NA19312,NA19346,NA19347,NA19350,NA19355,NA19359,NA19371,NA19375,NA19376,NA19380,NA19382,NA19383,NA19390,NA19396,NA19397,NA19401,NA19403,NA19429,NA19434,NA19437,NA19443,NA19444,NA19445,NA19456,NA19463,NA19466,NA19467,NA19473,NA19700,NA19703,NA19704,NA19711,NA19712,NA19834,NA19835,NA19909,NA19916,NA19982,NA20346 nsv6333966 1 11060114 11062306 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050839 M 19652 0 1 "" nsv3238415 1 11060115 11062307 CNV mobile element deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14390166 M 9 0 1 "" NA19240 nsv4517241 1 11060116 11062306 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857285 M 10847 0 1 "" nsv5422381 1 11060116 11062306 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892497 M 3202 0 1 "" nsv3319740 1 11060116 11062307 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478073,nssv14491427 M 14 0 2 "" HG02818,NA19434 nsv5827706 1 11060120 11062372 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451196 M 914 0 0 "" nsv3319294 1 11060140 11060538 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472407 M 14 0 1 "" NA19240 esv23739 1 11060167 11061907 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14228 M 40 0 1 "" NA19190 nsv6546003 1 11065341 11065507 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247321 M 19652 0 0 "" nsv6051713 1 11066609 11066609 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520218 M 405 1 0 "" nsv5728356 1 11066619 11066619 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17242864,nssv17248199 M 3202 2 0 "" nsv5562485 1 11066619 11066670 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892498 M 3202 1 0 "" nsv5883107 1 11068159 11068453 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353304 M 914 0 1 "" nsv6322999 1 11069548 11070335 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050841 M 19652 0 1 "" nsv6334033 1 11070719 11071439 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199251 M 19652 1 0 "" nsv4516841 1 11070750 11071512 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965419 M 10847 1 0 "" nsv5876575 1 11070761 11071468 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17362126 M 914 1 0 "" nsv5418343 1 11070761 11071502 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892499 M 3202 1 0 "" nsv6551118 1 11075411 11076087 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247322 M 19652 0 0 TARDBP nsv6320862 1 11075825 11161243 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199253 M 19652 1 0 EXOSC10,MASP2,SRM,TARDBP esv3657553 1 11079915 11079915 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16481001 M 20 1 0 TARDBP nsv5420963 1 11081486 11081583 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892501 M 3202 0 1 TARDBP nsv945768 1 11082214 11084125 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751910,nssv1754965,nssv1754905,nssv1754958,nssv1754906,nssv1754967,nssv1754913,nssv1754944,nssv1754912,nssv1754961,nssv1754904,nssv1754950,nssv1751911,nssv1754942,nssv1754928,nssv1754957,nssv1754939,nssv1754978,nssv1754924,nssv1754968,nssv1754981,nssv1754952,nssv1754918,nssv1751922,nssv1751905,nssv1754946,nssv1754910,nssv1751912,nssv1754982,nssv1754972,nssv1754919,nssv1754964,nssv1754936,nssv1751914,nssv1754923,nssv1751921,nssv1754926,nssv1754953,nssv1754938,nssv1754966,nssv1754908,nssv1751916,nssv1754907,nssv1754951,nssv1754935,nssv1751915,nssv1754915,nssv1754971,nssv1751909,nssv1751917,nssv1754921,nssv1754960,nssv1754917,nssv1751920,nssv1754911,nssv1754949,nssv1754930,nssv1751913,nssv1754922,nssv1754943,nssv1754920,nssv1751919,nssv1754933,nssv1754945,nssv1754914,nssv1754948,nssv1754931,nssv1754974,nssv1754927,nssv1754959,nssv1754983,nssv1754977,nssv1751906,nssv1754975,nssv1754903,nssv1754979,nssv1754929,nssv1754954,nssv1754980,nssv1754969,nssv1754940,nssv1754976,nssv1754909,nssv1754973,nssv1754934,nssv1754970,nssv1754937,nssv1754955,nssv1754916,nssv1754941,nssv1754932,nssv1754963,nssv1754925,nssv1754956,nssv1751908,nssv1754947,nssv1754962 M 97 10 0 TARDBP HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6322118 1 11084674 11090971 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199254 M 19652 1 0 MASP2,TARDBP nsv4051114 1 11088000 11106050 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965420 M 10847 1 0 MASP2 nsv5886288 1 11089906 11089970 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351403 M 914 0 1 MASP2 nsv5980519 1 11093650 11093932 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535832 M 405 0 1 MASP2 esv25881 1 11097562 11106051 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv21307,esv13377 M 40 2 1 MASP2 NA06985,NA12044,NA19257 esv2660954 1 11097612 11106315 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5962966 M 1151 0 1 MASP2 NA19257 esv3585212 1 11097642 11106422 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853579,essv9853583,essv9853582,essv9853580,essv9853581 M 2504 0 5 MASP2 HG02010,NA19035,NA19116,NA19153,NA19257 nsv5574042 1 11097646 11106328 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059913 M 35 0 1 MASP2 HG02011 nsv4050357 1 11097646 11106332 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857292 M 10847 0 1 MASP2 nsv5423284 1 11097646 11106332 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892502 M 3202 0 1 MASP2 nsv6325458 1 11097646 11106332 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050848 M 19652 0 1 MASP2 nsv953456 1 11098801 11120200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001767 M 1 0 1 MASP2,SRM BILGI_BIOE nsv5426992 1 11099395 11099775 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892503 M 3202 1 0 MASP2 nsv545408 1 11099430 11102144 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709929 M 17421 1 0 MASP2 nsv6319484 1 11099603 11101806 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199256 M 19652 1 0 MASP2 dgv106n54 1 11099833 11101982 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545410,nsv545409 M 17421 0 2 MASP2 nsv6316420 1 11099886 11101696 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050849 M 19652 0 1 MASP2 nsv4045938 1 11099956 11100915 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857301 M 10847 0 1 MASP2 nsv5879574 1 11099971 11101813 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351124 M 914 0 1 MASP2 nsv545411 1 11100172 11101982 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709932 M 17421 1 0 MASP2 esv2743741 1 11101187 11101447 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6668940 M 96 0 1 MASP2 SSM031 nsv5869554 1 11101455 11101653 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353862 M 914 0 1 MASP2 nsv5414802 1 11101658 11102420 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892505 M 3202 1 0 MASP2 nsv4444599 1 11101772 11101772 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15764332 M 1 1 0 MASP2 nsv956625 1 11101792 11102031 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000475 M 1 0 1 MASP2 BILGI_BIOE esv3669760 1 11101793 11101793 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16491989 M 20 1 0 MASP2 nsv3929179 1 11101793 11101793 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192093 M 1 1 0 MASP2 HG002 nsv5612129 1 11101793 11101793 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059915,nssv17059914 M 35 2 0 MASP2 HG00731,NA18939 nsv5955273 1 11101793 11101793 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357548 M 914 1 0 MASP2 nsv6048133 1 11101793 11101793 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523995 M 405 1 0 MASP2 nsv2799694 1 11101794 11101794 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692483,nssv13680549 M 2 2 0 MASP2 nsv3319745 1 11101794 11101794 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482481,nssv14483006,nssv14474011,nssv14484004,nssv14473317,nssv14487003,nssv14486848,nssv14479113,nssv14482962,nssv14484485,nssv14477920,nssv14486254,nssv14476413 M 14 13 0 MASP2 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 nsv3540777 1 11101805 11101805 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377368 M 9 1 0 MASP2 NA19240 nsv1133809 1 11102022 11102118 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969380 M 2 0 1 MASP2 KWS2 nsv6332412 1 11105360 11112306 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050852 M 19652 0 1 MASP2 nsv5881543 1 11107750 11108412 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351439 M 914 0 1 "" nsv4458513 1 11109053 11109054 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024377 M 10847 1 0 "" nsv4458514 1 11109068 11109069 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024385 M 10847 1 0 "" nsv5718342 1 11111562 11111562 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17244287 M 3202 1 0 "" nsv5563621 1 11111562 11111613 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892509 M 3202 1 0 "" nsv474577 1 11118357 11118357 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012643 M 9 1 0 SRM NA18956 nsv5685399 1 11125408 11125408 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17203621,nssv17231431 M 3202 2 0 "" nsv5964533 1 11129301 11129301 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357852 M 914 1 0 EXOSC10 esv3657678 1 11130322 11130322 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16481114 M 20 1 0 EXOSC10 nsv4044169 1 11133479 11135335 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857318 M 10847 0 1 EXOSC10 nsv4329179 1 11135458 11135459 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788937 M 10847 0 0 EXOSC10 nsv5727942 1 11136236 11136236 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17238513 M 3202 1 0 EXOSC10 nsv6326286 1 11142047 11143465 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050871 M 19652 0 1 EXOSC10 nsv6546723 1 11149608 11150052 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247385 M 19652 0 0 EXOSC10 nsv3197418 1 11156625 11156752 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14325693,nssv14325692 M 9 0 2 EXOSC10 HG00732,HG00733 nsv955233 1 11159501 11161900 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001778 M 1 0 1 EXOSC10 BILGI_BIOE nsv4041794 1 11160330 11160383 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857501 M 10847 0 1 "" nsv4033198 1 11164735 11164798 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857511 M 10847 0 1 "" nsv4458517 1 11165192 11165193 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024404 M 10847 1 0 "" nsv4564106 1 11170113 11170114 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024415 M 10847 1 0 MTOR nsv6543519 1 11177346 11177905 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247393 M 19652 0 0 MTOR nsv6548343 1 11177991 11178576 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247394 M 19652 0 0 MTOR nsv6330992 1 11179216 11201772 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199263 M 19652 1 0 MTOR nsv5414815 1 11179880 11180082 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892515 M 3202 0 1 MTOR esv3657725 1 11196847 11196847 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16481157 M 20 1 0 MTOR nsv6327121 1 11199891 11202378 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050905 M 19652 0 1 MTOR nsv1122297 1 11208714 11208783 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969748 M 2 0 1 MTOR,MTOR-AS1 KWS2 nsv5427920 1 11212366 11214178 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892526 M 3202 0 1 MTOR esv3303581 1 11212385 11212386 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7743300,essv7754450,essv7741490 M 185 3 0 MTOR NA18871,NA18916,NA19005 esv3427172 1 11212404 11212520 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898623,essv8898624,essv8898626 M 185 3 0 MTOR NA18871,NA18916,NA19005 nsv4458824 1 11212486 11212487 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024435 M 10847 1 0 MTOR nsv5689538 1 11212498 11212498 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17231499,nssv17205631 M 3202 2 0 MTOR nsv5401212 1 11212498 11212549 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892527 M 3202 1 0 MTOR nsv4535652 1 11216419 11216420 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024446 M 10847 1 0 MTOR nsv6548432 1 11219692 11220261 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247397 M 19652 0 0 MTOR nsv5423411 1 11220195 11220284 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892528 M 3202 0 1 MTOR esv2658000 1 11230265 11232333 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5587519,essv6345116,essv5944809 M 1151 0 3 MTOR HG01384,NA18868,NA19316 nsv5881153 1 11230349 11232250 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349639 M 914 0 1 MTOR nsv4041335 1 11230351 11232251 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857520 M 10847 0 1 MTOR nsv5430892 1 11230351 11232251 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892529 M 3202 0 1 MTOR nsv6332656 1 11230351 11232251 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050922 M 19652 0 1 MTOR esv3585215 1 11230358 11232287 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853620,essv9853636,essv9853625,essv9853619,essv9853621,essv9853640,essv9853626,essv9853638,essv9853633,essv9853639,essv9853631,essv9853637,essv9853632,essv9853618,essv9853635,essv9853622,essv9853630,essv9853623,essv9853634,essv9853628,essv9853629,essv9853624,essv9853627 M 2504 0 23 MTOR HG01384,HG01912,HG02010,HG02613,HG02634,HG02804,HG02807,HG02813,HG02836,HG02854,HG03077,HG03078,HG03095,HG03109,HG03199,HG03209,HG03436,HG03460,HG03583,NA18868,NA19017,NA19222,NA19316 nsv4557306 1 11230609 11230610 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024456 M 10847 1 0 MTOR nsv5827606 1 11230685 11232284 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452414 M 914 0 0 MTOR nsv5827714 1 11237557 11239156 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467235 M 914 0 0 MTOR nsv5886784 1 11242147 11242210 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355167 M 914 0 1 MTOR nsv5980605 1 11242147 11242211 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521445 M 405 0 1 MTOR nsv4033935 1 11242147 11242212 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857529 M 10847 0 1 MTOR nsv5421327 1 11242147 11242212 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892530 M 3202 0 1 MTOR nsv5683793 1 11243716 11243716 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205632 M 3202 1 0 MTOR nsv5411049 1 11243716 11243767 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892532 M 3202 1 0 MTOR nsv4458828 1 11244244 11244245 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024466 M 10847 1 0 MTOR nsv5691961 1 11244260 11244260 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17217888 M 3202 1 0 MTOR nsv5400255 1 11244260 11244311 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892534 M 3202 1 0 MTOR nsv4458528 1 11246778 11246779 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024476 M 10847 1 0 MTOR nsv5688865 1 11246796 11246796 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205633,nssv17217666 M 3202 2 0 MTOR nsv5395996 1 11246796 11246847 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892643 M 3202 1 0 MTOR nsv6537615 1 11256694 11257632 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247402 M 19652 0 0 MTOR nsv4033618 1 11262973 11263653 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857539 M 10847 0 1 MTOR esv3657756 1 11267466 11267466 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16481185 M 20 1 0 MTOR esv3686938 1 11267642 11267704 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464103 M 20 0 1 MTOR nsv4041265 1 11267683 11267768 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965422 M 10847 1 0 MTOR nsv5954252 1 11274526 11274526 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17368453 M 914 1 0 MTOR nsv4458529 1 11274526 11274527 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026409 M 10847 1 0 MTOR nsv5403929 1 11274537 11274537 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892645 M 3202 1 0 MTOR nsv5684340 1 11274537 11274537 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17223367,nssv17205634 M 3202 2 0 MTOR nsv4458731 1 11274537 11274538 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026419 M 10847 1 0 MTOR nsv6055496 1 11275460 11275460 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527458 M 405 1 0 MTOR nsv4458530 1 11283270 11283271 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026430 M 10847 1 0 MTOR nsv945769 1 11292194 11293849 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752941,nssv1752952,nssv1751934,nssv1752892,nssv1751925,nssv1752923,nssv1751924,nssv1752903,nssv1751933,nssv1752929,nssv1751926,nssv1752919,nssv1752939,nssv1752906,nssv1751948,nssv1752949,nssv1751939,nssv1752930,nssv1752877,nssv1752927,nssv1752937,nssv1752947,nssv1751943,nssv1752925,nssv1751928,nssv1752895,nssv1751936,nssv1752918,nssv1751930,nssv1752894,nssv1751937,nssv1752916,nssv1752943,nssv1752900,nssv1752884,nssv1752915,nssv1752934,nssv1752944,nssv1752885,nssv1752946,nssv1752883,nssv1752950,nssv1752938,nssv1752917,nssv1751932,nssv1752893,nssv1751945,nssv1752926,nssv1752940,nssv1752911,nssv1751931,nssv1752948,nssv1752879,nssv1752904,nssv1751947,nssv1752922,nssv1752888,nssv1752932,nssv1752889,nssv1752896,nssv1751946,nssv1752921,nssv1751941,nssv1752899,nssv1751942,nssv1752912,nssv1751944,nssv1752902,nssv1752933,nssv1752928,nssv1751935,nssv1752890,nssv1751949,nssv1752891,nssv1752882,nssv1752907,nssv1752935,nssv1752897,nssv1752876,nssv1752901,nssv1751923,nssv1752914,nssv1752881,nssv1752954,nssv1751950,nssv1752913,nssv1751938,nssv1752910,nssv1751927,nssv1752924,nssv1752936,nssv1752945,nssv1752878,nssv1752905,nssv1752880,nssv1752908,nssv1752951 M 97 10 0 MTOR HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6545208 1 11299066 11299742 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247406 M 19652 0 0 MTOR nsv5606922 1 11299573 11299573 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059962 M 35 1 0 MTOR HG02011 nsv5682224 1 11299573 11299573 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17221585,nssv17205635 M 3202 2 0 MTOR nsv5950137 1 11299573 11299573 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358537 M 914 1 0 MTOR nsv4570774 1 11299573 11299574 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026437 M 10847 1 0 MTOR nsv5719319 1 11299590 11299590 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17247283,nssv17240632 M 3202 2 0 MTOR nsv5403705 1 11299590 11299624 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892646 M 3202 1 0 MTOR nsv3319307 1 11300191 11300191 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472522 M 14 1 0 MTOR HG02818 nsv6254809 1 11304377 11304377 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17855815 M 1021 1 0 MTOR nsv5624318 1 11308022 11308022 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059964 M 35 1 0 MTOR NA19983 nsv474152 1 11309323 11309323 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019622 M 9 1 0 MTOR NA18507 nsv5570867 1 11309994 11310119 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059967 M 35 0 1 MTOR HG00512 nsv3196723 1 11309994 11310120 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14328365 M 9 0 1 MTOR HG00512 nsv5980608 1 11310001 11310123 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525740 M 405 0 1 MTOR nsv4750234 1 11310108 11310236 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285696 M 25 0 1 MTOR nsv5980609 1 11310115 11310250 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521010 M 405 0 1 MTOR nsv3274130 1 11310121 11310199 CNV sva deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14414817 M 9 0 1 MTOR HG00514 nsv3319308 1 11310211 11310260 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473928 M 14 0 1 MTOR HG02818 nsv5582139 1 11310257 11310353 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059968 M 35 0 1 MTOR HG02818 nsv5980610 1 11310284 11310335 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529249 M 405 0 1 MTOR nsv4458611 1 11313743 11313744 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026443 M 10847 1 0 MTOR nsv4458736 1 11319629 11319630 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026451 M 10847 1 0 MTOR nsv5690267 1 11324947 11324947 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17173987 M 3202 1 0 "" nsv4032967 1 11327396 11328291 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965423 M 10847 1 0 "" nsv6316181 1 11328322 11330395 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050960 M 19652 0 1 "" nsv6545038 1 11329828 11330407 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247433 M 19652 0 0 "" nsv6326751 1 11332339 11337739 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18050962 M 19652 0 1 UBIAD1 nsv1144351 1 11337149 11337232 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995102 M 2 0 1 UBIAD1 KWS1 nsv4458613 1 11343903 11343904 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026459 M 10847 1 0 UBIAD1 nsv4458835 1 11346589 11346590 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025634 M 10847 1 0 UBIAD1 nsv4036874 1 11352685 11366223 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855962 M 10847 0 1 "" nsv6537085 1 11358040 11358601 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247453 M 19652 0 0 "" nsv5618294 1 11359133 11359133 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059986 M 35 1 0 "" HG00513 nsv5423578 1 11359133 11359199 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892648 M 3202 1 0 "" nsv5431168 1 11361793 11361848 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892650 M 3202 1 0 "" nsv6544935 1 11363815 11365067 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247458 M 19652 0 0 "" nsv4048950 1 11365729 11366092 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855972 M 10847 0 1 "" nsv5980766 1 11365840 11365921 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522842 M 405 0 1 "" nsv5873795 1 11365846 11365925 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355282 M 914 0 1 "" nsv4432926 1 11366385 11386533 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15747072 M 15 0 1 "" BTQ055 nsv5882196 1 11368396 11368981 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355436 M 914 0 1 "" nsv5980841 1 11368396 11368983 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524155 M 405 0 1 "" nsv5419528 1 11368396 11368986 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892654 M 3202 0 1 "" nsv4051582 1 11368396 11369013 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15855981 M 10847 0 1 "" nsv4035943 1 11370541 11370663 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965424 M 10847 1 0 "" nsv5552891 1 11370569 11370582 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892655 M 3202 1 0 "" nsv5966614 1 11370587 11370587 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351939 M 914 1 0 "" nsv1137729 1 11370587 11370640 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990237 M 2 0 1 "" KWS2 nsv4052296 1 11370604 11370661 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965425 M 10847 1 0 "" nsv5617909 1 11370608 11370608 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059758 M 35 1 0 "" HG03125 nsv6040525 1 11370612 11370612 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535720 M 405 1 0 "" nsv516050 1 11372638 11398365 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv700989,nssv665889,nssv701963,nssv683456 M 2026 0 4 "" nsv6334357 1 11374581 11377632 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051371 M 19652 0 1 "" nsv5881106 1 11376221 11376284 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367988 M 914 0 1 "" nsv4052351 1 11379459 11380475 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857568 M 10847 0 1 "" nsv6537632 1 11381266 11382888 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247469 M 19652 0 0 "" nsv832536 1 11388777 11562341 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442752 M 95 0 1 PTCHD2 esv3653495 1 11392875 11392984 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16477349 M 20 0 0 "" nsv4432927 1 11397001 11398000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15753249 M 15 1 0 "" MDQ010 nsv4765580 1 11398157 11398157 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16261802 M 25 1 0 "" nsv4033450 1 11398191 11398266 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965426 M 10847 1 0 "" nsv5621368 1 11398203 11398203 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059764 M 35 1 0 "" HG02818 nsv5615610 1 11398221 11398221 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059765,nssv17059766 M 35 2 0 "" HG00732,HG03371 nsv3540057 1 11398222 11398222 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382468,nssv14441223 M 9 2 0 "" HG00733,NA19240 nsv6047772 1 11398223 11398223 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527860 M 405 1 0 "" nsv4051267 1 11398230 11398308 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965427 M 10847 1 0 "" nsv4536788 1 11398238 11398239 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026211 M 10847 1 0 "" nsv1110875 1 11406570 11406622 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3961286 M 2 0 0 "" KWS1 nsv6325625 1 11409823 11428149 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199298 M 19652 1 0 "" nsv5873065 1 11412709 11416717 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359542 M 914 0 1 "" nsv5827612 1 11412741 11416715 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466204 M 914 0 0 "" esv3585220 1 11412760 11416751 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853730,essv9853728,essv9853729,essv9853731,essv9853727 M 2504 0 5 "" HG00409,HG00620,HG04177,NA19082,NA19089 esv2672657 1 11412772 11416694 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5407469,essv5625718,essv6274262 M 1151 0 3 "" HG00151,HG00620,NA19082 nsv5422755 1 11412772 11416723 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892656 M 3202 0 1 "" nsv4733903 1 11412815 11416737 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16282828 M 25 0 1 "" nsv6330329 1 11412858 11416757 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051596 M 19652 0 1 "" nsv5980846 1 11412972 11416606 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519389 M 405 0 1 "" nsv6329776 1 11417317 11423532 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199299 M 19652 1 0 "" esv3331891 1 11423295 11423305 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863674 M 185 1 0 "" NA12005 nsv6321172 1 11424687 11429175 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051607 M 19652 0 1 "" nsv5427656 1 11432377 11432497 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892657 M 3202 1 0 "" nsv3214424 1 11432775 11439995 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14259988,nssv14259989,nssv14259984,nssv14259986,nssv14259985,nssv14259987,nssv14259983,nssv14259990 M 9 8 0 "" HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3329848 1 11433513 11434531 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652037 M 185 1 0 "" NA19240 nsv4444663 1 11433701 11433701 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761815 M 1 1 0 "" nsv6321018 1 11433811 11434568 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199300 M 19652 1 0 "" nsv3542069 1 11433938 11433938 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412717 M 9 1 0 "" HG00514 nsv3948153 1 11433938 11433938 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192095 M 1 1 0 "" HG002 nsv5624520 1 11433938 11433938 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059777 M 35 1 0 "" HG00731 nsv5967544 1 11433938 11433938 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17349945 M 914 1 0 "" nsv6060120 1 11433938 11433938 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521450 M 405 1 0 "" esv3673582 1 11433938 11433939 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16495427 M 20 0 0 "" nsv2799704 1 11433939 11433939 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699075 M 2 1 0 "" nsv3051597 1 11433939 11433939 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14026332 M 2 1 0 "" NA12878 nsv3319761 1 11433939 11433939 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480830,nssv14474637,nssv14485964,nssv14478187,nssv14474387,nssv14475158,nssv14488752,nssv14484032,nssv14491386,nssv14472095,nssv14487097,nssv14472525,nssv14484540,nssv14480700 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3056754 1 11433943 11433943 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14023739 M 2 1 0 "" CHM1 nsv3538212 1 11433947 11433947 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441224,nssv14390763 M 9 2 0 "" HG00733,NA19240 nsv3053464 1 11434032 11434032 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033060 M 2 1 0 "" NA12878 nsv3063993 1 11434134 11434134 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034499 M 2 1 0 "" NA12878 nsv5421812 1 11434229 11434311 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892660 M 3202 1 0 "" nsv5980847 1 11434241 11434369 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527034 M 405 0 1 "" nsv3319549 1 11434242 11434242 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14492004 M 14 1 0 "" HG02106 nsv3319320 1 11434326 11434326 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482522 M 14 1 0 "" HG02106 nsv5618781 1 11434385 11434385 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059778 M 35 1 0 "" NA19238 nsv3538506 1 11434404 11434404 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373015 M 9 1 0 "" NA19240 nsv6050182 1 11434416 11434416 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526125 M 405 1 0 "" esv3687970 1 11434462 11434536 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464196 M 20 0 1 "" nsv4533059 1 11435230 11435231 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024486 M 10847 1 0 "" nsv5725376 1 11435245 11435245 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17249359 M 3202 1 0 "" esv3658056 1 11436261 11436261 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16481454 M 20 1 0 "" nsv6316641 1 11438454 11444562 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051613 M 19652 0 1 "" nsv4049320 1 11441130 11441249 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857587 M 10847 0 1 "" nsv3177059 1 11441639 11441774 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378820 M 9 0 1 "" NA19240 nsv5574140 1 11441658 11441792 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059779 M 35 0 1 "" NA19238 nsv5877131 1 11441658 11441792 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365756 M 914 0 1 "" nsv3214565 1 11441709 11444870 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271654 M 9 1 0 "" HG00512 nsv5869356 1 11446981 11447582 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355093 M 914 0 1 "" esv3585221 1 11449834 11536217 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853732 M 2504 1 0 "" HG01162 nsv6320593 1 11450138 11536881 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199732 M 19652 1 0 "" nsv4035897 1 11450138 11536886 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965428 M 10847 1 0 "" nsv5427669 1 11450138 11536886 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892662 M 3202 1 0 "" nsv4042808 1 11457125 11459248 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857598 M 10847 0 1 "" nsv4038717 1 11457765 11465249 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857607 M 10847 0 1 "" nsv4038271 1 11464633 11464722 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857617 M 10847 0 1 "" nsv1002307 1 11465467 11527555 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481323 M 11257 1 0 "" esv3585222 1 11467027 11473433 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853733 M 2504 0 1 "" HG01461 esv2668404 1 11467158 11473415 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6219838,essv5984928 M 1151 0 2 "" HG01461,NA19657 nsv5428732 1 11467172 11473378 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892664 M 3202 0 1 "" nsv4034952 1 11469258 11470034 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857627 M 10847 0 1 "" nsv5427978 1 11473372 11478194 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892665 M 3202 0 1 "" nsv6317054 1 11474664 11475149 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051626 M 19652 0 1 "" nsv4048066 1 11484515 11484578 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965429 M 10847 1 0 "" nsv4034517 1 11486055 11486142 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857636 M 10847 0 1 "" nsv4458845 1 11486632 11486633 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024496 M 10847 1 0 "" nsv1137730 1 11491184 11491544 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990238 M 2 0 1 "" KWS2 nsv6048993 1 11491804 11491804 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528563 M 405 1 0 "" nsv4755085 1 11491806 11491806 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16293317 M 25 1 0 "" nsv3540868 1 11491817 11491817 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438732 M 9 1 0 "" HG00733 nsv5616504 1 11491837 11491837 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060338 M 35 1 0 "" HG00512 nsv465394 1 11493832 11520653 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541193 M 1557 0 1 "" 1780854097_A nsv545412 1 11493832 11520653 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173671 M 17421 0 1 "" 1780854097_A nsv528438 1 11496994 11501431 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705033 M 2026 0 1 "" nsv5614675 1 11500155 11500155 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060339 M 35 1 0 "" HG03486 nsv5957559 1 11500155 11500155 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17362841 M 914 1 0 "" nsv5537225 1 11500172 11500172 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892668 M 3202 1 0 "" nsv6047015 1 11500181 11500181 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532960 M 405 1 0 "" nsv6044708 1 11500214 11500214 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536992 M 405 1 0 "" nsv5980856 1 11504470 11504781 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521397 M 405 0 1 "" nsv4039243 1 11516302 11518701 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857654 M 10847 0 1 "" nsv6316626 1 11516302 11518701 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051652 M 19652 0 1 "" nsv5416904 1 11520957 11521163 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892669 M 3202 1 0 "" nsv4731764 1 11525213 11525281 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16263121 M 25 0 1 "" dgv107n152 1 11525221 11525289 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3527003,nsv3203680,nsv3280064 M 9 0 4 "" HG00513,HG00514,HG00731,HG00733 nsv1075568 1 11525224 11525289 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772534 M 1 0 1 "" KWP1 nsv5874277 1 11525225 11525288 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357612 M 914 0 1 "" dgv36n106 1 11525225 11525289 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1144352,nsv1113076 M 2 0 2 "" KWS1,KWS2 esv3545344 1 11525225 11525289 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9744091 M 767 0 1 "" esv3688626 1 11525225 11525290 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464255 M 20 0 1 "" nsv5980756 1 11525225 11525291 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528791 M 405 0 1 "" nsv3055822 1 11525226 11525288 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14029870 M 2 0 1 "" CHM1 nsv4518020 1 11525228 11525420 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857664 M 10847 0 1 "" nsv5565946 1 11525229 11525288 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059785 M 35 0 1 "" HG00731 nsv2800351 1 11525238 11525289 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13698552 M 2 0 1 "" nsv3319561 1 11525238 11525289 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478952,nssv14473756,nssv14475614 M 14 0 3 "" CHM1,CHM13,NA12878 nsv6053595 1 11525247 11525247 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535800 M 405 1 0 "" nsv5606252 1 11525249 11525249 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059786 M 35 1 0 "" NA19983 nsv4458540 1 11525303 11525304 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024514 M 10847 1 0 "" nsv4536928 1 11531075 11531076 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024524 M 10847 1 0 "" nsv5433284 1 11532745 11532817 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892671 M 3202 0 1 "" nsv2632 1 11537077 11567852 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv298 M 9 1 0 PTCHD2 NA19240 nsv5870366 1 11539697 11542447 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357872 M 914 0 1 PTCHD2 nsv5559904 1 11539702 11539710 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892672 M 3202 0 0 PTCHD2 esv2657750 1 11541441 11543200 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6269148 M 1151 0 1 PTCHD2 NA20586 nsv5416837 1 11541441 11543200 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892673 M 3202 0 1 PTCHD2 nsv4050405 1 11548646 11548772 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857671 M 10847 0 1 PTCHD2 nsv3224270 1 11557844 11587386 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14274010,nssv14274011 M 9 2 0 PTCHD2 HG00731,HG00732 nsv832647 1 11562347 11669596 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442763 M 95 0 1 LOC101929181,PTCHD2 nsv465505 1 11562490 11601119 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541299 M 1557 0 1 PTCHD2 HGDP00857 nsv545413 1 11562490 11601119 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173672 M 17421 0 1 PTCHD2 HGDP00857 dgv107n54 1 11562490 11626858 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545415,nsv545414 M 17421 0 3 PTCHD2 HGDP00787 nsv465727 1 11562490 11626858 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541477 M 1557 0 1 PTCHD2 HGDP00787 nsv3220605 1 11573008 11592009 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14273460,nssv14273457,nssv14273458,nssv14273459 M 9 4 0 PTCHD2 HG00514,HG00731,HG00732,HG00733 nsv4563723 1 11574271 11575151 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788945 M 10847 0 0 PTCHD2 nsv470692 1 11575260 11622979 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547697 M 443 1 0 PTCHD2 HGDP00599 nsv521736 1 11577831 11595331 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694500 M 2026 0 1 PTCHD2 nsv955244 1 11578501 11597700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001789 M 1 0 1 PTCHD2 BILGI_BIOE nsv5608374 1 11581439 11581439 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060346 M 35 1 0 PTCHD2 NA19983 esv2628262 1 11582403 11583169 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5205183 M 1 1 0 PTCHD2 NA18507 nsv3531397 1 11582428 11582428 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412720 M 9 1 0 PTCHD2 HG00514 esv3380219 1 11582448 11583000 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808884 M 185 1 0 PTCHD2 NA12878 esv26916 1 11582552 11583022 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13120 M 40 0 1 PTCHD2 NA07045 nsv5980925 1 11582581 11583054 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17525462 M 405 1 0 PTCHD2 nsv5431255 1 11582591 11583013 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892674 M 3202 1 0 PTCHD2 nsv5607450 1 11582663 11582663 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060347 M 35 1 0 PTCHD2 HG00512 nsv2799706 1 11582687 11582687 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681999 M 2 1 0 PTCHD2 nsv3319338 1 11582687 11582687 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488266,nssv14483475,nssv14485690,nssv14491525,nssv14474388,nssv14481704,nssv14473929,nssv14473729 M 14 8 0 PTCHD2 CHM1,CHM13,HG00733,HG02059,HG02818,HX1,NA12878,NA19240 nsv3056042 1 11582688 11582688 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019879 M 2 1 0 PTCHD2 NA12878 nsv3540242 1 11582716 11582716 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384370 M 9 1 0 PTCHD2 NA19240 nsv3537921 1 11582730 11582730 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438733 M 9 1 0 PTCHD2 HG00733 nsv3533578 1 11582761 11582761 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412721,nssv14438734,nssv14384842 M 9 3 0 PTCHD2 HG00514,HG00733,NA19240 nsv5884407 1 11582772 11582980 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357786 M 914 0 1 PTCHD2 nsv2800591 1 11582773 11582773 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691655,nssv13693865 M 2 2 0 PTCHD2 nsv3319773 1 11582773 11582773 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484340,nssv14486053,nssv14485524,nssv14476282,nssv14481920,nssv14476774,nssv14482890,nssv14484809,nssv14486131,nssv14481349 M 14 10 0 PTCHD2 CHM1,CHM13,HG00268,HG00733,HG01352,HG02106,HG02818,HG04217,HX1,NA12878 nsv3954362 1 11582773 11582773 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192100 M 1 1 0 PTCHD2 HG002 nsv5618343 1 11582773 11582773 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060348 M 35 1 0 PTCHD2 HG00731 nsv2800592 1 11582808 11582808 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689733 M 2 1 0 PTCHD2 nsv2800429 1 11582810 11582810 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684381 M 2 1 0 PTCHD2 nsv3319125 1 11582810 11582810 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472617,nssv14478530,nssv14480751,nssv14485901,nssv14489698,nssv14483447,nssv14477068,nssv14483824,nssv14484183,nssv14486171 M 14 10 0 PTCHD2 CHM1,CHM13,HG00268,HG00733,HG01352,HG02106,HG02818,HG04217,HX1,NA12878 nsv6049513 1 11582819 11582819 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529114 M 405 1 0 PTCHD2 nsv3532230 1 11582826 11582826 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412722,nssv14376989 M 9 2 0 PTCHD2 HG00514,NA19240 nsv3532299 1 11582838 11582838 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438736 M 9 1 0 PTCHD2 HG00733 nsv3319563 1 11582841 11582841 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473305,nssv14485652,nssv14486216,nssv14474695,nssv14481492,nssv14473817,nssv14472940,nssv14483511,nssv14472892,nssv14489596,nssv14484658,nssv14490736 M 14 12 0 PTCHD2 HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3530806 1 11582859 11582859 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412723 M 9 1 0 PTCHD2 HG00514 nsv3056043 1 11582871 11582871 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025708 M 2 1 0 PTCHD2 NA12878 nsv3319339 1 11582872 11582872 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490010,nssv14489338,nssv14474674,nssv14481137,nssv14480176 M 14 5 0 PTCHD2 HG00514,HG00733,HX1,NA19240,NA19434 nsv5624168 1 11582873 11582873 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060349 M 35 1 0 PTCHD2 HG00512 nsv3542322 1 11582935 11582935 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438737 M 9 1 0 PTCHD2 HG00733 nsv3538890 1 11582939 11582939 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380542 M 9 1 0 PTCHD2 NA19240 nsv5611122 1 11582939 11582939 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060350,nssv17060351 M 35 2 0 PTCHD2 HG00512,HG00513 nsv3533078 1 11582947 11582947 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412724,nssv14438738 M 9 2 0 PTCHD2 HG00514,HG00733 nsv3056044 1 11582962 11582962 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14015871 M 2 1 0 PTCHD2 NA12878 esv3654125 1 11583617 11583679 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16477916 M 20 0 0 PTCHD2 nsv5610631 1 11584748 11584748 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060352 M 35 1 0 PTCHD2 HG02492 esv3649075 1 11584764 11584847 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464308 M 20 0 1 PTCHD2 nsv6056317 1 11584819 11584819 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525717 M 405 1 0 PTCHD2 nsv5980987 1 11584973 11585026 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524427 M 405 0 1 PTCHD2 dgv18n100 1 11586585 11630428 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv999027,nsv1008090,nsv1000208,nsv1010644,nsv1006388 M 11257 5 0 PTCHD2 nsv4035105 1 11588527 11588667 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857680 M 10847 0 1 PTCHD2 nsv6326148 1 11596519 11597199 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051699 M 19652 0 1 PTCHD2 nsv4041047 1 11598094 11628289 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965431 M 10847 1 0 "" nsv4041090 1 11599040 11611795 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857689 M 10847 0 1 "" nsv6327939 1 11599040 11611795 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051700 M 19652 0 1 "" esv3337006 1 11599824 11599843 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8678328 M 185 1 0 "" NA12878 esv3309193 1 11599833 11599834 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7839434 M 185 1 0 "" NA12878 nsv5621116 1 11600764 11600764 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060358 M 35 1 0 "" HG01596 esv3585223 1 11607635 11608681 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9853734 M 2504 0 1 "" NA20803 nsv5421701 1 11607649 11608700 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892684 M 3202 0 1 "" nsv6321278 1 11608288 11609713 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051704 M 19652 0 1 "" nsv520251 1 11614268 11626858 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697308 M 2026 0 1 "" nsv5980992 1 11621931 11622008 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522422 M 405 0 1 "" nsv5980928 1 11622508 11624446 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527011 M 405 0 1 "" nsv5877511 1 11628337 11629290 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17369207 M 914 1 0 "" nsv5421031 1 11628337 11629291 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892706 M 3202 1 0 "" nsv6317783 1 11640211 11641842 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051709 M 19652 0 1 "" nsv5428952 1 11641594 11641659 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892717 M 3202 1 0 "" nsv4043407 1 11650335 11660479 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857715 M 10847 0 1 "" nsv4533042 1 11654046 11654047 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025104 M 10847 1 0 "" nsv5827820 1 11655755 11667251 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457891 M 914 0 0 "" nsv3524671 1 11655792 11655792 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383395 M 9 1 0 "" NA19240 nsv5607267 1 11655792 11655792 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060117 M 35 1 0 "" NA19239 nsv4458623 1 11655792 11655793 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025112 M 10847 1 0 "" nsv3561283 1 11655807 11655807 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14329255,nssv14329256 M 9 2 0 "" NA19239,NA19240 nsv5553515 1 11655807 11655843 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892734 M 3202 1 0 "" nsv5879780 1 11655816 11667240 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357795 M 914 0 1 "" nsv4035050 1 11655819 11667241 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857725 M 10847 0 1 "" nsv6334152 1 11655819 11667241 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051719 M 19652 0 1 "" nsv5578488 1 11669253 11669421 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060118 M 35 0 1 "" NA19238 nsv3200031 1 11669253 11669422 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14328679,nssv14328678 M 9 0 2 "" NA19238,NA19240 nsv3241119 1 11669254 11669423 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379333 M 9 0 0 "" NA19240 nsv3319130 1 11669255 11669423 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472795 M 14 0 1 "" NA19240 nsv5428963 1 11669299 11669398 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892735 M 3202 0 1 "" nsv4036721 1 11669299 11669428 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15857734 M 10847 0 1 "" nsv5879519 1 11669358 11669407 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357495 M 914 0 1 "" nsv5569113 1 11677285 11677355 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060121 M 35 0 1 "" NA12329 nsv5872287 1 11677285 11677355 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367933 M 914 0 1 "" nsv4043656 1 11677292 11677356 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847106 M 10847 0 1 "" nsv5425237 1 11677292 11677356 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892736 M 3202 0 1 "" nsv545416 1 11680283 11736410 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709935 M 17421 0 1 FBXO2,FBXO44,FBXO6,MAD2L2 nsv6319894 1 11681846 11682383 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051796 M 19652 0 1 "" esv7758 1 11682662 11683311 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30199 M 1 0 0 "" esv2570682 1 11682692 11684391 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5218562 M 1 0 1 "" NA18507 esv2017403 1 11682714 11683369 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4788047 M 1 0 1 "" NA18507 esv3208 1 11682836 11683312 CNV loss Wang_et_al_2008 18987735 Sequencing essv25649 M 1 0 1 "" YH esv3545455 1 11682840 11683237 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9744202 M 767 0 1 "" esv2743752 1 11682864 11683173 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863950,essv6816575,essv6892314,essv6747769,essv6889000,essv6821175,essv6898607,essv6824974,essv6859181,essv6780862,essv6718160,essv6699592,essv6707260,essv6843776,essv6954734,essv6946486,essv6961544,essv6972331,essv6696985,essv6807368,essv6853229 M 96 0 21 "" SSM011,SSM024,SSM026,SSM027,SSM029,SSM038,SSM039,SSM041,SSM044,SSM056,SSM068,SSM075,SSM078,SSM079,SSM080,SSM087,SSM088,SSM089,SSM097,SSM098,SSM100 esv3585224 1 11682873 11683189 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing 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M 2504 0 1811 "" 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nsv1075871 1 11682887 11683200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769259 M 1 0 1 "" KWP1 nsv4740405 1 11682888 11683181 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281011 M 25 0 1 "" nsv1152584 1 11682892 11683205 CNV deletion John_et_al_2014 26484159 Sequencing nssv3999764 M 1 0 1 "" KWB1 nsv5980930 1 11682893 11683183 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523079 M 405 0 1 "" nsv5876265 1 11682893 11683185 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352363 M 914 0 1 "" nsv3943169 1 11682893 11683186 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181529 M 1 0 1 "" HG002 nsv5572494 1 11682893 11683186 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060123 M 35 0 1 "" HG00731 nsv3183857 1 11682893 11683187 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384480,nssv14414076,nssv14440715 M 9 0 0 "" HG00514,HG00733,NA19240 esv2666437 1 11682893 11683189 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6366054,essv5831614,essv5677467,essv6384433,essv5633581,essv5775881,essv5867787,essv6030563,essv6269978,essv5518732,essv5637434,essv6216608,essv5521071,essv5428741,essv5948685,essv5849942,essv6037551,essv5909070,essv6508975,essv6034102,essv5446220,essv6593293,essv5479145,essv5896862,essv5526024,essv6329357,essv6162853,essv6225523,essv6300361,essv6128141,essv5998087,essv5857315,essv6075318,essv6576113,essv5869666,essv5858473,essv5700030,essv5814744,essv6166147,essv5839912,essv5697267,essv5708469,essv5717557,essv5514123,essv6453746,essv6055418,essv6410768,essv5812743,essv6104142,essv6307393,essv6598135,essv6505671,essv5828990,essv5640027,essv5744650,essv6134938,essv5437540,essv5746460,essv6430887,essv6100086,essv6233114,essv5427728,essv6141294,essv6117695,essv6238225,essv5618284,essv5563794,essv6027594,essv5498125,essv5773476,essv6207467,essv5507007,essv6552870,essv6202739,essv5885583,essv6363642,essv6489604,essv5403003,essv5414441,essv5880436,essv5806835,essv6188575,essv6169902,essv6014220,essv6083360,essv5920491,essv6556822,essv6147026,essv6186395,essv5841321,essv6021392,essv6171737,essv5402436,essv5894807,essv5850582,essv6271479,essv6243536,essv5413185,essv6087619,essv5751966,essv6330776,essv6514480,essv5553381,essv6392714,essv5893840,essv5979364,essv5424169,essv6246278,essv6134335,essv6137682,essv5409914,essv6566294,essv6264301,essv5698681,essv6331288,essv6594399,essv5649484,essv5558781,essv6467818,essv5952587,essv6053356,essv5546216,essv6069127,essv6421586,essv6417539,essv6030100,essv5906980,essv6327317,essv6549247,essv5757671,essv5459106,essv5477271,essv6316134,essv5467969,essv5624347,essv5412743,essv5431043,essv5446954,essv6518434,essv6029891,essv5641389,essv6099515,essv6527102,essv5922270,essv6151630,essv6131404,essv5629817,essv6074857,essv5511046,essv5913244,essv6054490,essv5997457,essv6025435,essv6120509,essv5803047,essv6364857,essv6528943,essv6115765,essv5406100,essv6210235,essv5711549,essv6152051,essv5503921,essv6274056,essv6372240,essv5554387,essv6035531,essv6081560,essv5442575,essv5772619,essv5634379,essv5978567,essv5660381,essv6286902,essv6123568,essv6263424,essv5655328,essv5893299,essv6424899,essv6418149,essv6370984,essv6580968,essv6440097,essv6549109,essv5661126,essv5842121,essv5790492,essv5860658,essv5402677,essv5475868,essv5563366,essv5859984,essv5452850,essv6595440,essv5875279,essv5867321,essv6372554,essv6122221,essv6227114,essv6264799,essv5572618,essv6457914,essv5600231,essv6524748,essv6020444,essv6497022,essv6331013,essv5453023,essv5494636,essv6299803,essv6172356,essv6239560,essv6125574,essv5411483,essv6034457,essv6343272,essv5744098,essv6509873,essv5984541,essv5704285,essv6089478,essv6334420,essv5553257,essv5806416,essv5479222,essv6398118,essv5695351,essv6542212,essv5792649,essv6180765,essv5813371,essv6402099,essv6520760,essv6485043,essv5761758,essv5982179,essv6533999,essv5967652,essv5702425,essv5458974,essv6374163,essv5653532,essv5482552,essv5404053,essv5945198,essv6209742,essv5475863,essv6140973,essv6380194,essv6564760,essv5817671,essv6406016,essv6230453,essv6039488,essv6122106,essv6326527,essv6279042,essv5737455,essv6179787,essv5608374,essv6353246,essv5786411,essv6199540,essv5980228,essv5648244,essv6135443,essv5967078,essv6265236,essv6367458,essv6113754,essv5715074,essv6548578,essv6536967,essv5836902,essv6259703,essv6589373,essv5738254,essv5444378,essv5886848,essv6406132,essv6120768,essv5771946,essv5876618,essv5649613,essv5546456,essv5482260,essv5519629,essv5964035,essv6029991,essv5787078,essv6106601,essv6273781,essv6414119,essv5861863,essv5856084,essv5607324,essv5458329,essv6544955,essv6135668,essv6513087,essv6450709,essv6341473,essv5485265,essv5489416,essv5809919,essv5686442,essv5808821,essv5493210,essv6367383,essv6421410,essv5519435,essv5518174,essv5938441,essv6281475,essv6400393,essv5421515,essv6553770,essv5483785,essv6513811,essv5754199,essv5980735,essv6022514,essv5716235,essv5687759,essv6129376,essv6281187,essv5722668,essv6456261,essv5460733,essv6359553,essv5476617,essv6283412,essv6332951,essv6412112,essv6050102,essv5699737,essv6486136,essv5826486,essv5479282,essv5440793,essv5462858,essv6317680,essv6458255,essv6574251,essv6469534,essv5672467,essv6112283,essv5857681,essv6432073,essv6533518,essv6551177,essv5801917,essv5444787,essv6168685,essv5965760,essv5499440,essv6258583,essv5914186,essv5576240,essv6440826,essv6044479,essv5975165,essv5427571,essv6190557,essv5863584,essv5840970,essv5548042,essv6321500,essv5500632,essv6049398,essv6401729,essv6419689,essv6250208,essv5852049,essv6098539,essv6054982,essv5454923,essv5983438,essv5452322,essv6561298,essv6007125,essv6288776,essv6084532,essv6106292,essv5898958,essv5759707,essv6208725,essv6094004,essv5785852,essv6361727,essv6243975,essv6503435,essv5548288,essv6233682,essv6108631,essv6154775,essv6333758,essv5413219,essv5738166,essv5988683,essv5906040,essv5780910,essv6194176,essv6595206,essv5720517,essv6573031,essv6356526,essv5724992,essv5598969,essv6474848,essv6289109,essv5560127,essv6097913,essv5832207,essv5945843,essv5702758,essv5789809,essv6534292,essv5868148,essv6063177,essv5425436,essv5796445,essv5836145,essv6138203,essv6346521,essv6370000,essv5415013,essv5610452,essv6037011,essv5821652,essv6096230,essv6059921,essv5849291,essv5630219,essv6553862,essv6540515,essv5684094,essv5675546,essv6133390,essv6141116,essv5863747,essv5937635,essv6265147,essv6204806,essv6065167,essv5962682,essv6017111,essv5775396,essv6189940,essv5712471,essv6591262,essv6418416,essv5832832,essv5432100,essv5442130,essv5717645,essv6073118,essv6395990,essv6021587,essv5433723,essv6532577,essv6531389,essv6468675,essv5591757,essv6467000,essv6273913,essv6550906,essv5473688,essv5835627,essv6369567,essv5442867,essv5647991,essv5669123,essv6168833,essv6014844,essv5668321,essv5436923,essv6552901,essv5712658,essv6495125,essv5763482,essv5479209,essv6128976,essv5962321,essv5655212,essv5829923,essv6108329,essv5461171,essv6380675,essv5535274,essv6419779,essv6129411,essv5413204,essv5558805,essv6547713,essv6140244,essv6412682,essv5438767,essv5923301,essv6201458,essv6558742,essv5618860,essv6050319,essv6043812,essv5571880,essv6484816,essv5770088,essv5956894,essv6002753,essv6182623,essv5741317,essv6589387,essv5911609,essv5868909,essv6264894,essv6036623,essv5417311,essv6320865,essv5736091,essv5602336,essv5841022,essv5829969,essv5416869,essv6482091,essv5745998,essv5931786,essv5726038,essv6065078,essv6344223,essv5893427,essv6203243,essv5826844,essv6391020,essv6412404,essv6313623,essv6285733,essv6569738,essv5522094,essv5972844,essv6140282,essv6276195,essv6442648,essv6126289,essv6180585,essv5865704,essv5952596,essv5397928,essv6393200,essv6363717,essv5474613,essv6014560,essv6381031,essv6175490,essv6263345,essv6293684,essv6319235,essv6465350,essv6052328,essv5608184,essv5496612,essv6516429,essv5641635,essv6220406,essv6434220,essv5998575,essv5852880,essv5545185,essv6478228,essv5690804,essv5454821,essv5839564,essv5821515,essv5661240,essv5830718,essv5819464,essv5623830,essv5839832,essv6074854,essv5570033,essv5479690,essv6219472,essv5828248,essv5578575,essv5710568,essv6249129,essv6249441,essv5562840,essv5402556,essv5403864,essv5459968,essv6331953,essv5944276,essv5592105,essv6047461,essv5669581,essv6110908,essv6215098,essv6110671,essv5567531,essv5418566,essv5462411,essv6269794,essv6448619,essv5587714,essv6046909,essv6408719,essv6440258,essv6000530,essv6062060,essv5972969,essv5685573,essv5686746,essv5720823,essv6161776,essv6270635,essv6492389,essv5809273,essv5587280,essv5953568,essv5615454,essv6116320,essv6422703,essv6477760,essv6417107,essv6200209,essv6540014,essv6222503,essv5638079,essv5640580,essv6270993,essv5460156,essv5864520,essv6010254,essv5812739,essv6589368,essv6353139,essv6176660,essv5935816,essv6040668,essv6481083,essv5970170,essv6408943,essv6473176,essv6070056,essv5890392,essv6126389,essv5452506,essv6552516,essv5901566,essv6303125,essv5474424,essv5909097,essv5992410,essv5417790,essv6597986,essv6099956,essv5683620,essv6435480,essv5672408,essv5903925,essv6033065,essv6538567,essv5416725 M 1151 0 663 "" HG00096,HG00098,HG00100,HG00106,HG00108,HG00111,HG00114,HG00115,HG00117,HG00118,HG00119,HG00120,HG00122,HG00123,HG00125,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00139,HG00140,HG00141,HG00142,HG00143,HG00145,HG00147,HG00148,HG00150,HG00151,HG00152,HG00154,HG00155,HG00156,HG00157,HG00158,HG00159,HG00160,HG00171,HG00173,HG00174,HG00176,HG00177,HG00178,HG00179,HG00180,HG00181,HG00182,HG00183,HG00185,HG00186,HG00187,HG00188,HG00189,HG00190,HG00231,HG00232,HG00233,HG00236,HG00237,HG00239,HG00243,HG00244,HG00245,HG00246,HG00247,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00260,HG00262,HG00263,HG00264,HG00265,HG00266,HG00267,HG00268,HG00269,HG00270,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00309,HG00310,HG00311,HG00312,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00324,HG00325,HG00326,HG00327,HG00328,HG00329,HG00330,HG00331,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00345,HG00346,HG00353,HG00357,HG00361,HG00366,HG00367,HG00368,HG00369,HG00372,HG00373,HG00375,HG00377,HG00404,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00443,HG00448,HG00449,HG00464,HG00472,HG00473,HG00476,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00537,HG00551,HG00553,HG00554,HG00557,HG00559,HG00565,HG00566,HG00580,HG00581,HG00583,HG00584,HG00589,HG00607,HG00608,HG00611,HG00614,HG00620,HG00625,HG00628,HG00634,HG00635,HG00637,HG00638,HG00640,HG00641,HG00650,HG00654,HG00656,HG00657,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00699,HG00704,HG00705,HG00707,HG00708,HG00731,HG00732,HG00734,HG00736,HG00737,HG00739,HG00740,HG01047,HG01048,HG01051,HG01052,HG01055,HG01060,HG01061,HG01066,HG01067,HG01069,HG01070,HG01072,HG01073,HG01075,HG01080,HG01082,HG01095,HG01097,HG01098,HG01101,HG01102,HG01124,HG01125,HG01133,HG01136,HG01137,HG01167,HG01168,HG01170,HG01171,HG01173,HG01174,HG01176,HG01177,HG01183,HG01187,HG01188,HG01190,HG01191,HG01197,HG01198,HG01204,HG01251,HG01334,HG01342,HG01350,HG01351,HG01354,HG01359,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01383,HG01389,HG01390,HG01437,HG01440,HG01441,HG01455,HG01456,HG01461,HG01462,HG01488,HG01489,HG01492,HG01497,HG01515,HG01516,HG01518,HG01519,HG01521,HG01522,NA06984,NA06985,NA06986,NA06989,NA07000,NA07037,NA07048,NA07051,NA07056,NA07346,NA07347,NA07357,NA10847,NA10851,NA11829,NA11830,NA11831,NA11832,NA11843,NA11881,NA11892,NA11893,NA11894,NA11919,NA11920,NA11930,NA11931,NA11932,NA11933,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12046,NA12058,NA12144,NA12154,NA12155,NA12156,NA12234,NA12249,NA12272,NA12273,NA12275,NA12282,NA12283,NA12286,NA12287,NA12340,NA12341,NA12342,NA12347,NA12383,NA12399,NA12400,NA12413,NA12489,NA12546,NA12716,NA12717,NA12718,NA12748,NA12749,NA12750,NA12751,NA12761,NA12775,NA12776,NA12777,NA12778,NA12813,NA12827,NA12828,NA12829,NA12830,NA12842,NA12843,NA12878,NA12889,NA12890,NA12891,NA12892,NA18486,NA18487,NA18488,NA18489,NA18498,NA18499,NA18501,NA18505,NA18507,NA18508,NA18511,NA18517,NA18519,NA18520,NA18522,NA18523,NA18526,NA18530,NA18532,NA18533,NA18537,NA18542,NA18545,NA18546,NA18547,NA18548,NA18549,NA18552,NA18555,NA18559,NA18561,NA18562,NA18563,NA18564,NA18565,NA18566,NA18567,NA18571,NA18573,NA18574,NA18576,NA18577,NA18579,NA18582,NA18596,NA18599,NA18602,NA18605,NA18608,NA18610,NA18611,NA18612,NA18620,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18638,NA18856,NA18858,NA18861,NA18870,NA18873,NA18874,NA18908,NA18909,NA18916,NA18941,NA18942,NA18944,NA18947,NA18950,NA18952,NA18956,NA18960,NA18963,NA18967,NA18983,NA18984,NA18986,NA18988,NA18990,NA18991,NA18999,NA19007,NA19054,NA19058,NA19059,NA19065,NA19078,NA19079,NA19087,NA19088,NA19092,NA19102,NA19107,NA19114,NA19119,NA19198,NA19223,NA19225,NA19235,NA19238,NA19240,NA19257,NA19311,NA19316,NA19319,NA19327,NA19328,NA19332,NA19346,NA19347,NA19359,NA19360,NA19371,NA19372,NA19373,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19384,NA19390,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19430,NA19431,NA19436,NA19438,NA19443,NA19445,NA19453,NA19463,NA19472,NA19625,NA19648,NA19651,NA19652,NA19654,NA19655,NA19657,NA19658,NA19661,NA19663,NA19675,NA19676,NA19679,NA19681,NA19682,NA19684,NA19700,NA19707,NA19713,NA19716,NA19717,NA19719,NA19720,NA19723,NA19725,NA19726,NA19728,NA19729,NA19732,NA19747,NA19749,NA19750,NA19755,NA19759,NA19761,NA19762,NA19770,NA19771,NA19774,NA19776,NA19779,NA19780,NA19782,NA19783,NA19785,NA19786,NA19788,NA19789,NA19818,NA19834,NA19900,NA19904,NA19908,NA19914,NA19920,NA19921,NA20126,NA20278,NA20299,NA20332,NA20336,NA20346,NA20356,NA20502,NA20503,NA20504,NA20506,NA20507,NA20513,NA20514,NA20515,NA20516,NA20517,NA20518,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20530,NA20531,NA20533,NA20534,NA20536,NA20537,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20585,NA20586,NA20588,NA20752,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20795,NA20796,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20811,NA20812,NA20813,NA20814,NA20816,NA20826,NA20828 esv2853458 1 11682893 11683189 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7123025 M 1 0 1 "" HuRef nsv3525927 1 11682893 11683189 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14327326,nssv14327331,nssv14327333,nssv14327328,nssv14327332,nssv14327330,nssv14327327,nssv14327329 M 9 0 8 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19240 nsv5422268 1 11682893 11683189 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892737 M 3202 0 1 "" nsv6323012 1 11682893 11683189 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051797 M 19652 0 1 "" esv3654433 1 11682893 11683190 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16478194 M 20 0 0 "" dgv37n106 1 11682893 11683193 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1126187,nsv1111843,nsv1134962 M 2 0 2 "" KWS1,KWS2 nsv2800352 1 11682894 11683186 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13709978 M 2 0 1 "" nsv3319342 1 11682894 11683186 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473160,nssv14488868,nssv14489102,nssv14481477,nssv14477672,nssv14483800,nssv14475865,nssv14482855,nssv14483546,nssv14478273,nssv14483584 M 14 0 11 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG04217,NA12878,NA19240,NA19434 nsv4432931 1 11682894 11683189 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15749414,nssv15750082,nssv15752532,nssv15749981 M 15 0 4 "" BTQ038,MDQ025,NB08,NB09 nsv3055874 1 11682897 11683190 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14024771 M 2 0 1 "" CHM1 nsv955438 1 11682908 11683165 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000432 M 1 0 1 "" BILGI_BIOE nsv6541345 1 11687088 11687855 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249855 M 19652 0 0 "" nsv5877341 1 11688982 11689032 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357208 M 914 0 1 "" nsv5545259 1 11695823 11695873 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892738 M 3202 1 0 "" nsv4533916 1 11695873 11695874 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025132 M 10847 1 0 "" nsv4536188 1 11696883 11696884 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025139 M 10847 1 0 "" nsv832758 1 11697083 11837144 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442774 M 95 0 1 AGTRAP,DRAXIN,FBXO2,FBXO44,FBXO6,MAD2L2 nsv5617057 1 11701739 11701739 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060127 M 35 1 0 "" HG00732 nsv5885642 1 11701739 11701812 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17362688 M 914 1 0 "" nsv5415246 1 11701739 11701817 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892740 M 3202 1 0 "" nsv6041346 1 11701774 11701774 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521375 M 405 1 0 "" nsv515826 1 11710561 11713563 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv682473,nssv693798,nssv679392,nssv666865,nssv660113,nssv674188,nssv673329,nssv664907,nssv685412,nssv655395,nssv683681,nssv682277,nssv681520 M 2026 0 13 FBXO2 nsv545417 1 11710561 11721616 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709936 M 17421 0 1 FBXO2,FBXO44 nsv5980783 1 11710717 11710783 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528511 M 405 0 1 FBXO2 nsv1075569 1 11713299 11715700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763456 M 1 0 1 FBXO2,FBXO44 KWP1 nsv521468 1 11713563 11717300 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694449 M 2026 0 1 FBXO2,FBXO44 nsv1112519 1 11714500 11715300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966619 M 2 0 1 FBXO2,FBXO44 KWS2 nsv6323140 1 11715039 11718853 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051815 M 19652 0 1 FBXO44 nsv5867723 1 11716339 11716395 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363215 M 914 0 1 FBXO44 esv3545677 1 11716339 11716396 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9744424 M 767 0 1 FBXO44 nsv4051394 1 11716343 11716396 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847136 M 10847 0 1 FBXO44 nsv5421685 1 11716343 11716396 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892741 M 3202 0 1 FBXO44 esv3658409 1 11716369 11716369 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16481772 M 20 1 0 FBXO44 nsv5827618 1 11717211 11725109 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459140 M 914 0 0 FBXO44,FBXO6 nsv6326114 1 11717437 11718017 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051817 M 19652 0 1 FBXO44 nsv6326379 1 11723058 11725357 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051819 M 19652 0 1 FBXO44,FBXO6 esv3658480 1 11723061 11723061 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16481836 M 20 1 0 FBXO44 nsv6335233 1 11723180 11725517 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199751 M 19652 1 0 FBXO44,FBXO6 nsv6323153 1 11725298 11726472 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051820 M 19652 0 1 FBXO6 esv3585225 1 11725309 11726488 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9855548,essv9855546,essv9855550,essv9855547,essv9855549 M 2504 0 5 FBXO6 NA19307,NA19321,NA19440,NA19443,NA19466 nsv5430794 1 11725344 11726472 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892742 M 3202 0 1 FBXO6 nsv5676924 1 11728214 11728214 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17173329 M 3202 1 0 FBXO6 nsv5399776 1 11728214 11728265 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892743 M 3202 1 0 FBXO6 nsv5980995 1 11729645 11729762 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527564 M 405 0 1 FBXO6 nsv5419883 1 11729877 11731831 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892745 M 3202 0 1 FBXO6 nsv5570260 1 11739618 11739679 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059793 M 35 0 1 MAD2L2 NA19239 nsv5873503 1 11739618 11739679 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365755 M 914 0 1 MAD2L2 nsv3197937 1 11739618 11739680 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14328941 M 9 0 1 MAD2L2 NA19239 nsv5980866 1 11739618 11739680 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520905 M 405 0 1 MAD2L2 nsv4517271 1 11739619 11739680 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847150 M 10847 0 1 MAD2L2 nsv5415994 1 11739619 11739680 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892746 M 3202 0 1 MAD2L2 nsv4459200 1 11746134 11746135 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025149 M 10847 1 0 MAD2L2 nsv1076104 1 11751499 11752000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766681 M 1 0 1 DRAXIN,MAD2L2 KWP1 nsv4047794 1 11756377 11758672 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965432 M 10847 1 0 DRAXIN nsv5425093 1 11770754 11771190 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892747 M 3202 1 0 DRAXIN nsv5605626 1 11770816 11770816 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059799 M 35 1 0 DRAXIN HG03732 nsv508880 1 11781440 11831320 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619769 M 4 1 0 AGTRAP NA10860 nsv4518413 1 11787976 11788037 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965433 M 10847 1 0 "" nsv5416048 1 11787976 11788037 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892748 M 3202 1 0 "" nsv4037353 1 11790227 11790751 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847157 M 10847 0 1 "" esv3650342 1 11790327 11790390 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464422 M 20 0 1 "" nsv1129458 1 11790384 11790448 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3962912 M 2 1 0 "" KWS1 nsv6316421 1 11797612 11799015 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051843 M 19652 0 1 AGTRAP nsv545418 1 11803286 11809526 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709937 M 17421 0 1 AGTRAP nsv545419 1 11807615 11811273 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709938 M 17421 1 0 AGTRAP nsv545420 1 11807970 11811283 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709939 M 17421 0 1 AGTRAP nsv545421 1 11808706 11810674 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709940 M 17421 0 1 AGTRAP nsv4458629 1 11809309 11809310 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025160 M 10847 1 0 AGTRAP dgv108n54 1 11809415 11811273 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545422,nsv545423 M 17421 0 2 AGTRAP nsv5875977 1 11811752 11811903 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354541 M 914 0 1 "" nsv4517013 1 11811786 11811904 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847165 M 10847 0 1 "" nsv4458860 1 11815383 11815384 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026462 M 10847 1 0 "" nsv4043901 1 11816468 11816549 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847176 M 10847 0 1 "" nsv4040382 1 11818413 11823247 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847185 M 10847 0 1 "" nsv6317896 1 11818413 11823247 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051874 M 19652 0 1 "" nsv5431280 1 11818614 11821170 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892750 M 3202 0 1 "" nsv6326393 1 11819054 11823292 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199759 M 19652 1 0 "" dgv47n223 1 11819132 11819904 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6543227,nsv6542541 M 19652 0 0 "" nsv6321118 1 11822539 11824258 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051876 M 19652 0 1 "" nsv4517340 1 11823322 11824887 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847192 M 10847 0 1 "" nsv5614259 1 11830208 11830208 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059814 M 35 1 0 "" NA12878 nsv5957524 1 11830208 11830208 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357954 M 914 1 0 "" nsv4537921 1 11830208 11830209 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026471 M 10847 1 0 "" nsv3319136 1 11830209 11830209 CNV sva insertion Audano_et_al_2019 30661756 Sequencing nssv14475229 M 14 1 0 "" NA12878 nsv6056904 1 11830213 11830213 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531506 M 405 1 0 "" nsv3051599 1 11830216 11830216 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032228 M 2 1 0 "" NA12878 nsv4756168 1 11830220 11830220 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16260293 M 25 1 0 "" nsv5677056 1 11830220 11830220 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17174364,nssv17205636 M 3202 2 0 "" nsv5714698 1 11830220 11830220 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17242803,nssv17238974 M 3202 2 0 "" nsv6259865 1 11830220 11830220 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856598 M 1021 1 0 "" nsv5561087 1 11830220 11830271 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892752 M 3202 1 0 "" nsv5827732 1 11831513 11832659 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456075 M 914 0 0 "" nsv5881118 1 11838738 11838849 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356986 M 914 0 1 "" nsv4052285 1 11839328 11839670 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847209 M 10847 0 1 "" nsv5431151 1 11848447 11848505 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892768 M 3202 1 0 MTHFR nsv518652 1 11857711 11862778 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696101 M 2026 0 1 MTHFR nsv4034112 1 11858000 11870000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965434 M 10847 1 0 CLCN6,MTHFR nsv6321399 1 11859367 11859959 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051903 M 19652 0 1 MTHFR nsv4567888 1 11861656 11861657 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026482 M 10847 1 0 MTHFR nsv6254839 1 11868023 11868023 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856604 M 1021 1 0 CLCN6 nsv6317609 1 11868734 11875771 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051911 M 19652 0 1 CLCN6 nsv6260073 1 11887051 11887051 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856605 M 1021 1 0 CLCN6 esv2280942 1 11889565 11889886 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4641147 M 1 0 1 CLCN6 NA18507 nsv5610574 1 11889586 11889586 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060867,nssv17060866 M 35 2 0 CLCN6 HG03683,NA12878 nsv6057051 1 11889617 11889617 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534834 M 405 1 0 CLCN6 nsv4760982 1 11889644 11889644 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16293142 M 25 1 0 CLCN6 nsv6040742 1 11889667 11889667 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524754 M 405 1 0 CLCN6 nsv5567096 1 11889719 11889814 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060868 M 35 0 1 CLCN6 HG02011 nsv6060455 1 11889742 11889742 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528784 M 405 1 0 CLCN6 nsv3319346 1 11889855 11889855 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481467 M 14 1 0 CLCN6 HG04217 nsv4458897 1 11894214 11894215 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026492 M 10847 1 0 CLCN6 nsv527521 1 11900825 11909514 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703975 M 2026 0 1 CLCN6,NPPA,NPPA-AS1 esv3655037 1 11906692 11906751 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16478737 M 20 0 0 NPPA,NPPA-AS1 nsv6328033 1 11915012 11919490 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051178 M 19652 0 1 NPPB nsv6330435 1 11918058 11919657 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051182 M 19652 0 1 NPPB nsv5416616 1 11920053 11920565 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892790 M 3202 1 0 "" nsv5623119 1 11920550 11920550 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060149 M 35 1 0 "" NA19983 nsv4535002 1 11920550 11920551 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026502 M 10847 1 0 "" nsv5683588 1 11920566 11920566 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17173408,nssv17205637 M 3202 2 0 "" nsv5535978 1 11920566 11920569 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892823 M 3202 1 0 "" nsv5412294 1 11920566 11920617 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892812 M 3202 1 0 "" nsv6545391 1 11923820 11924389 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249883 M 19652 0 0 "" esv3658638 1 11925954 11925954 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16481979 M 20 1 0 "" nsv517385 1 11928830 11928895 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv673526,nssv653897,nssv681416,nssv690321,nssv652751,nssv669294,nssv656721 M 2026 0 7 "" esv3658682 1 11932358 11932358 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16482018 M 20 1 0 "" nsv4563521 1 11936728 11936729 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026513 M 10847 1 0 "" nsv4048231 1 11937730 11941627 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847224 M 10847 0 1 "" nsv4518046 1 11939400 11939463 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963002 M 10847 1 0 "" nsv5950161 1 11942780 11942780 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358416 M 914 1 0 "" nsv5608662 1 11942785 11942785 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060152 M 35 1 0 "" HG00514 nsv6044532 1 11942785 11942785 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517886 M 405 1 0 "" nsv4045489 1 11950390 11950474 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847230 M 10847 0 1 "" nsv6330647 1 11954146 11956112 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199768 M 19652 1 0 "" nsv5418723 1 11954425 11954499 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16892842 M 3202 0 1 "" esv3652174 1 11954680 11954792 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464587 M 20 0 1 "" nsv6320546 1 11956468 11957777 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051235 M 19652 0 1 "" esv3545899 1 11956895 11958001 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9744646 M 767 0 1 "" nsv3115128 1 11962491 11977075 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14086317 M 467 0 1 "" sample162 nsv5715093 1 11963547 11963547 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236586 M 3202 1 0 "" nsv4041653 1 11965615 11976563 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963003 M 10847 1 0 "" nsv4040311 1 11967710 11968422 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847240 M 10847 0 1 "" nsv5428480 1 11968115 11968306 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893622 M 3202 1 0 "" nsv4038256 1 11968230 11968705 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963005 M 10847 1 0 "" nsv4044017 1 11968248 11968326 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963006 M 10847 1 0 "" nsv4047778 1 11968406 11968476 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963007 M 10847 1 0 "" nsv6328399 1 11968406 11968476 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200358 M 19652 1 0 "" nsv6321521 1 11969241 12005192 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200359 M 19652 1 0 KIAA2013,PLOD1 nsv5422818 1 11969307 11977711 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893623 M 3202 0 1 "" nsv6318338 1 11970512 11981794 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200360 M 19652 1 0 KIAA2013 nsv4041589 1 11970548 11981791 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963008 M 10847 1 0 KIAA2013 nsv5425589 1 11972289 11972453 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893624 M 3202 1 0 "" nsv6326269 1 11976366 11989558 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051245 M 19652 0 1 KIAA2013 nsv5877091 1 11976421 11976553 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365066 M 914 0 1 "" nsv5981009 1 11976426 11976557 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528071 M 405 0 1 "" nsv4516630 1 11976457 11976518 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845558 M 10847 0 1 "" nsv5426530 1 11983549 11985269 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893625 M 3202 0 1 KIAA2013 nsv3196792 1 11984268 11984444 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14331649,nssv14331648 M 9 0 2 KIAA2013 HG00514,NA19238 nsv6334495 1 11984758 11986557 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200362 M 19652 1 0 KIAA2013 nsv4561002 1 11984947 11984948 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026523 M 10847 1 0 KIAA2013 nsv5980789 1 11987086 11987648 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525749 M 405 0 1 "" nsv5422327 1 11987136 11987744 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893626 M 3202 0 1 "" nsv6546243 1 11987766 11988437 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249895 M 19652 0 0 "" nsv4733962 1 11988392 11993158 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289158 M 25 0 1 "" nsv5427840 1 11988501 11993407 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893627 M 3202 0 1 "" esv3585227 1 11988599 11993367 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9855922,essv9855901,essv9855888,essv9855918,essv9855903,essv9855889,essv9855919,essv9855902,essv9855890,essv9855921,essv9855885,essv9855917,essv9855886,essv9855914,essv9855887,essv9855911,essv9855908,essv9855913,essv9855904,essv9855909,essv9855907,essv9855910,essv9855905,essv9855920,essv9855906,essv9855912,essv9855892,essv9855916,essv9855896,essv9855915,essv9855895,essv9855884,essv9855894,essv9855881,essv9855893,essv9855883,essv9855891,essv9855882,essv9855898,essv9855900,essv9855899,essv9855897 M 2504 0 42 "" HG00180,HG00320,HG00329,HG00419,HG00560,HG00565,HG00590,HG00662,HG00683,HG00759,HG01806,HG01813,HG01866,HG01872,HG02023,HG02050,HG02140,HG02187,HG02389,HG02455,HG02597,HG02601,HG02731,HG03785,HG04054,HG04176,HG04229,NA12414,NA18559,NA18582,NA18593,NA18620,NA18636,NA18948,NA18952,NA18990,NA18994,NA19072,NA19076,NA19082,NA19090,NA20878 esv2743763 1 11988639 11993412 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6892315,essv6917415,essv6722000,essv6946487,essv6733477,essv6967920,essv6961545,essv6847005 M 96 0 8 "" SSM017,SSM024,SSM027,SSM028,SSM045,SSM049,SSM086,SSM098 nsv5878308 1 11988649 11993406 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352963 M 914 0 1 "" esv2670693 1 11988649 11993407 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6354380,essv5708107,essv6390169,essv6321813,essv5743262,essv6450182,essv6013996,essv6591077,essv5867042,essv5557663,essv5492028,essv5550755,essv5841944,essv5802120,essv5416173,essv6262121,essv6158937 M 1151 0 17 "" HG00180,HG00320,HG00329,HG00419,HG00560,HG00590,HG00662,HG00683,NA18559,NA18582,NA18593,NA18620,NA18636,NA18948,NA18990,NA19076,NA19082 dgv48n223 1 11988658 11993657 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6324746,nsv6317625 M 19652 0 2 "" nsv4048037 1 11988660 11993407 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845569 M 10847 0 1 "" nsv5980940 1 11988691 11993159 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532401 M 405 0 1 "" nsv6319329 1 11988879 11989414 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051254 M 19652 0 1 "" nsv828475 1 11989622 11993278 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1423944 M 31 0 1 "" NA18582 esv2674148 1 11989845 11995642 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6255764,essv5652110,essv5548935,essv5396538,essv5726229,essv5579580,essv6516434,essv6229766,essv6287791,essv5975255,essv6134973,essv6300775,essv6062700,essv5970262 M 1151 0 14 PLOD1 HG00180,HG00181,HG00274,HG00277,HG00284,HG00309,HG00320,HG00326,HG00329,HG00339,HG00342,HG00343,HG00344,HG00346 nsv5827933 1 11989860 11993488 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465870 M 914 0 0 "" esv22435 1 11989868 11993484 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16673 M 40 0 1 "" NA12414 dgv109n54 1 11990767 11993126 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545426,nsv545424,nsv545425 M 17421 0 4 "" nsv6544115 1 11993213 11993843 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249896 M 19652 0 0 "" esv2743774 1 11996690 11997138 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6801612,essv6954735 M 96 0 2 PLOD1 SSM026,SSM073 nsv5424886 1 11996827 11997152 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893628 M 3202 0 1 PLOD1 nsv5980790 1 11996829 11997157 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530884 M 405 0 1 PLOD1 nsv5428185 1 11997121 11999824 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893163 M 3202 0 1 PLOD1 nsv6332724 1 12007592 12011474 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051266 M 19652 0 1 PLOD1 nsv5980941 1 12019125 12019210 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521778 M 405 0 1 PLOD1 nsv5584184 1 12019603 12019777 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060170 M 35 0 1 PLOD1 HG02587 nsv4034481 1 12019624 12019744 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845595 M 10847 0 1 PLOD1 nsv4044325 1 12019773 12028710 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963009 M 10847 1 0 PLOD1 nsv6325089 1 12019785 12028681 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200371 M 19652 1 0 PLOD1 nsv545427 1 12020412 12026355 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709947 M 17421 0 1 PLOD1 nsv4569982 1 12021880 12023162 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788955 M 10847 0 0 PLOD1 nsv955252 1 12023101 12026300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001800 M 1 0 1 PLOD1 BILGI_BIOE dgv108n152 1 12024308 12030057 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3201272,nsv3190802 M 9 0 9 PLOD1 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 dgv110n54 1 12026355 12031482 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545428,nsv545429 M 17421 0 2 PLOD1 nsv4050371 1 12027658 12027714 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963010 M 10847 1 0 PLOD1 nsv5621229 1 12027673 12027673 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060172 M 35 1 0 PLOD1 HG03732 nsv5963981 1 12027673 12027673 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363369 M 914 1 0 PLOD1 nsv6053512 1 12027683 12027683 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528747 M 405 1 0 PLOD1 nsv545430 1 12030447 12031482 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709950 M 17421 1 0 PLOD1 dgv111n54 1 12030759 12031482 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545432,nsv545431 M 17421 0 3 PLOD1 esv27905 1 12030771 12031509 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17941 M 40 1 0 PLOD1 NA12156 nsv1126178 1 12030800 12031400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984407 M 2 0 1 PLOD1 KWS1 nsv545433 1 12030861 12031482 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709955,nssv709954,nssv709961,nssv709957,nssv709956,nssv709958,nssv709960,nssv709959 M 17421 8 0 PLOD1 nsv1075165 1 12030899 12031400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772914 M 1 0 1 PLOD1 KWP1 nsv545434 1 12030913 12031482 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv709969,nssv709964,nssv709963,nssv709962,nssv709965,nssv709967,nssv709966,nssv709968,nssv709972,nssv709970,nssv709977,nssv709971,nssv709973,nssv709975,nssv709976,nssv709974,nssv709984,nssv709979,nssv709978,nssv709982,nssv709983,nssv709985,nssv709981,nssv709980,nssv709988,nssv709987,nssv709986,nssv709998,nssv709992,nssv709991,nssv709989,nssv709990,nssv709999,nssv709997,nssv709996,nssv709995,nssv709993,nssv709994,nssv710000,nssv710001,nssv710002,nssv710003,nssv710006,nssv710007,nssv710005,nssv710004,nssv710011,nssv710009,nssv710008,nssv710010 M 17421 46 4 PLOD1 nsv545435 1 12030913 12032030 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710013,nssv710012,nssv710014 M 17421 3 0 PLOD1 nsv5885356 1 12033793 12034057 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359543 M 914 0 1 PLOD1 nsv5424640 1 12033796 12034058 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893164 M 3202 0 1 PLOD1 nsv6243653 1 12041989 12041989 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856624 M 1021 1 0 MFN2 nsv4043729 1 12043119 12043202 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845604 M 10847 0 1 MFN2 nsv4459091 1 12044728 12044729 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026532 M 10847 1 0 MFN2 nsv4318246 1 12047053 12052414 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788965 M 10847 0 0 MFN2 nsv470693 1 12050634 12115691 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547698 M 443 0 1 MFN2,MIIP,MIR6729 HGDP00556 nsv945771 1 12052524 12054252 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752965,nssv1752961,nssv1752966,nssv1752981,nssv1752957,nssv1752975,nssv1753042,nssv1752987,nssv1752956,nssv1752960,nssv1752958,nssv1752976,nssv1753047,nssv1753038,nssv1753009,nssv1752989,nssv1753045,nssv1752955,nssv1753007,nssv1752968,nssv1752999,nssv1752986,nssv1753017,nssv1753043,nssv1753030,nssv1752979,nssv1753028,nssv1752969,nssv1753024,nssv1752984,nssv1753031,nssv1752977,nssv1753051,nssv1752963,nssv1753026,nssv1752982,nssv1753000,nssv1752967,nssv1753011,nssv1753040,nssv1752994,nssv1752959,nssv1753013,nssv1753039,nssv1753002,nssv1752962,nssv1753001,nssv1752972,nssv1753005,nssv1753034,nssv1752997,nssv1752988,nssv1753010,nssv1753035,nssv1753052,nssv1752991,nssv1753025,nssv1753037,nssv1753027,nssv1753041,nssv1753032,nssv1753036,nssv1753012,nssv1752973,nssv1753050,nssv1752992,nssv1753015,nssv1752983,nssv1753046,nssv1752990,nssv1753049,nssv1752980,nssv1753020,nssv1752970,nssv1753022,nssv1752993,nssv1752998,nssv1752978,nssv1753044,nssv1752971,nssv1753018,nssv1752974,nssv1753019,nssv1752985,nssv1753048,nssv1753004,nssv1753029,nssv1753016,nssv1753014,nssv1753021,nssv1752996,nssv1753053,nssv1753033,nssv1753003,nssv1753023,nssv1753006,nssv1753008 M 97 10 0 MFN2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2743785 1 12052987 12053386 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6722001,essv6839964,essv6813163,essv6843879,essv6917416,essv6946488,essv6733478,essv6961546,essv6747770,essv6773435,essv6950174,essv6847006 M 96 0 12 MFN2 SSM004,SSM017,SSM024,SSM027,SSM045,SSM049,SSM056,SSM066,SSM077,SSM084,SSM085,SSM086 esv2672640 1 12053102 12053417 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5770172,essv5711658,essv5701547,essv5482363,essv6513676,essv5940314,essv6366586,essv5411662,essv6176209,essv6269652,essv5881455,essv6422375,essv5402476,essv5633702,essv5457787,essv5634866,essv6410934,essv6375486 M 1151 0 18 MFN2 HG00419,HG00443,HG00589,HG00590,HG00662,HG00683,HG00690,NA18530,NA18534,NA18536,NA18592,NA18593,NA18597,NA18635,NA18636,NA18948,NA18952,NA18990 nsv5577990 1 12053125 12053386 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060176 M 35 0 1 MFN2 NA18534 nsv5880441 1 12053125 12053386 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368522 M 914 0 1 MFN2 nsv4516986 1 12053125 12053387 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846178 M 10847 0 1 MFN2 nsv4736354 1 12053125 12053387 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289779 M 25 0 1 MFN2 nsv5424488 1 12053125 12053387 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893165 M 3202 0 1 MFN2 nsv5980942 1 12053125 12053387 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524683 M 405 0 1 MFN2 nsv4390857 1 12053126 12053387 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15703848 M 174 0 1 MFN2 nsv4050140 1 12053506 12054099 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846742 M 10847 0 1 MFN2 nsv4534993 1 12054036 12054037 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026543 M 10847 1 0 MFN2 nsv5715719 1 12054051 12054051 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17233446 M 3202 1 0 MFN2 nsv6316367 1 12058129 12061174 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051292 M 19652 0 1 MFN2 nsv4038564 1 12058227 12059666 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846752 M 10847 0 1 MFN2 nsv6328504 1 12058227 12059666 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051293 M 19652 0 1 MFN2 nsv1113077 1 12059916 12059971 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967967 M 2 0 1 MFN2 KWS2 nsv4517605 1 12064000 12141000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963011 M 10847 1 0 MFN2,MIIP,MIR6729,TNFRSF8 esv3361336 1 12066257 12066308 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898629,essv8898627,essv8898628 M 185 3 0 MFN2 NA18592,NA18593,NA18948 esv3304719 1 12066271 12066272 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7757876,essv7750861,essv7759312 M 185 3 0 MFN2 NA18592,NA18593,NA18948 nsv4760458 1 12066272 12066272 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265584 M 25 1 0 MFN2 nsv5621638 1 12066272 12066272 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060182 M 35 1 0 MFN2 NA18534 nsv5964745 1 12066272 12066272 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350063 M 914 1 0 MFN2 nsv6057788 1 12066272 12066272 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535179 M 405 1 0 MFN2 nsv4535431 1 12066272 12066273 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026551 M 10847 1 0 MFN2 nsv5684085 1 12066283 12066283 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17173726,nssv17205638 M 3202 2 0 MFN2 nsv6243747 1 12066283 12066283 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856667 M 1021 1 0 MFN2 nsv5410363 1 12066283 12066322 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893167 M 3202 1 0 MFN2 nsv5424230 1 12068673 12068819 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893169 M 3202 1 0 MFN2 nsv4559674 1 12075625 12075626 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026560 M 10847 1 0 "" nsv5728793 1 12075635 12075635 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17248363 M 3202 1 0 "" nsv5558796 1 12075635 12075676 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893170 M 3202 1 0 "" nsv4036704 1 12076195 12078193 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846769 M 10847 0 1 "" nsv5430888 1 12077153 12085936 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893172 M 3202 1 0 MIIP nsv5878025 1 12077216 12077838 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351647 M 914 0 1 "" esv3546010 1 12077221 12077853 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9744757 M 767 0 1 "" nsv1076110 1 12077222 12077853 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764032 M 1 0 1 "" KWP1 nsv6332987 1 12077250 12077860 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051296 M 19652 0 1 "" nsv5427165 1 12077251 12078115 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893173 M 3202 0 1 "" nsv3561284 1 12085096 12085096 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14330349,nssv14330348 M 9 2 0 MIIP NA19238,NA19239 nsv4039399 1 12085849 12085906 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846787 M 10847 0 1 MIIP nsv6316186 1 12088758 12092657 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051297 M 19652 0 1 MIIP,MIR6729 nsv6335393 1 12099556 12100021 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051298 M 19652 0 1 "" nsv4051660 1 12099558 12100021 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846795 M 10847 0 1 "" nsv469830 1 12099726 12259915 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1674860 M 265 0 1 MIR4632,MIR7846,TNFRSF1B,TNFRSF8 nsv5980795 1 12101312 12104044 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17523989 M 405 1 0 "" nsv4755432 1 12102713 12102713 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16261143 M 25 1 0 "" nsv3943327 1 12102725 12102725 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189590 M 1 1 0 "" HG002 nsv5619703 1 12102731 12102731 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17059999 M 35 1 0 "" HG00732 nsv3319362 1 12102744 12102744 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474259 M 14 1 0 "" HG00268 nsv3535606 1 12102746 12102746 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412725,nssv14383009,nssv14438739 M 9 3 0 "" HG00514,HG00733,NA19240 nsv5606543 1 12102746 12102746 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060000 M 35 1 0 "" HG00731 nsv6042974 1 12102746 12102746 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520753 M 405 1 0 "" nsv2799717 1 12102747 12102747 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684588 M 2 1 0 "" nsv3319363 1 12102747 12102747 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472850,nssv14491665 M 14 2 0 "" CHM1,NA19434 nsv5567900 1 12103501 12103588 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060003 M 35 0 1 "" NA19239 nsv3319590 1 12103542 12103591 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482927 M 14 0 1 "" NA19240 esv3585229 1 12109017 12111092 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9855971,essv9855976,essv9855974,essv9855972,essv9855975,essv9855973 M 2504 0 6 "" HG02775,HG02783,HG03943,HG04210,NA20870,NA21119 nsv5827624 1 12109087 12111186 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469430 M 914 0 0 "" nsv5882586 1 12109128 12111208 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359068 M 914 0 1 "" nsv5418554 1 12109172 12111141 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893185 M 3202 0 1 "" nsv4571399 1 12111770 12111771 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026570 M 10847 1 0 "" nsv6332966 1 12111817 12112528 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051299 M 19652 0 1 "" nsv5683741 1 12119935 12119935 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17174481 M 3202 1 0 "" nsv5401647 1 12119935 12119986 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893196 M 3202 1 0 "" esv3652553 1 12122309 12122904 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464621 M 20 0 1 "" esv6101 1 12122465 12123010 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28542 M 1 0 0 "" nsv6055003 1 12122538 12122538 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531110 M 405 1 0 "" nsv4731687 1 12122717 12122840 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273742 M 25 0 1 "" nsv5610696 1 12122895 12122895 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060016 M 35 1 0 "" NA19239 nsv5433488 1 12125203 12126773 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893229 M 3202 0 1 TNFRSF8 nsv6318075 1 12129134 12131920 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051300 M 19652 0 1 TNFRSF8 nsv466060 1 12130051 12141461 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541698 M 1557 0 1 TNFRSF8 1780862021_A nsv545436 1 12130051 12141461 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173674 M 17421 0 1 TNFRSF8 1780862021_A nsv5425011 1 12131578 12134062 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893239 M 3202 0 1 TNFRSF8 esv2662914 1 12131633 12134080 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5536735 M 1151 0 1 TNFRSF8 HG00282 nsv5827829 1 12131642 12134096 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465533 M 914 0 0 TNFRSF8 esv3585230 1 12131651 12134047 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9855977 M 2504 0 1 TNFRSF8 HG00282 nsv5874127 1 12131655 12134061 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362891 M 914 0 1 TNFRSF8 nsv4041795 1 12131655 12134062 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846811 M 10847 0 1 TNFRSF8 nsv6321959 1 12131655 12134062 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051301 M 19652 0 1 TNFRSF8 nsv5981012 1 12131667 12134062 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535183 M 405 0 1 TNFRSF8 nsv6325801 1 12131743 12140070 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051302 M 19652 0 1 TNFRSF8 nsv945772 1 12139593 12141260 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753091,nssv1753103,nssv1753066,nssv1753151,nssv1753081,nssv1753127,nssv1753054,nssv1753116,nssv1753082,nssv1753093,nssv1753089,nssv1753117,nssv1753079,nssv1753114,nssv1753070,nssv1753101,nssv1753073,nssv1753104,nssv1753077,nssv1753118,nssv1753085,nssv1753121,nssv1753080,nssv1753106,nssv1753084,nssv1753119,nssv1753065,nssv1753100,nssv1753138,nssv1753131,nssv1753139,nssv1753129,nssv1753059,nssv1753092,nssv1753078,nssv1753099,nssv1753141,nssv1753122,nssv1753090,nssv1753142,nssv1753062,nssv1753094,nssv1753136,nssv1753115,nssv1753068,nssv1753120,nssv1753058,nssv1753128,nssv1753061,nssv1753107,nssv1753072,nssv1753126,nssv1753075,nssv1753149,nssv1753132,nssv1753110,nssv1753060,nssv1753111,nssv1753087,nssv1753124,nssv1753076,nssv1753109,nssv1753088,nssv1753145,nssv1753133,nssv1753113,nssv1753069,nssv1753150,nssv1753134,nssv1753123,nssv1753086,nssv1753143,nssv1753083,nssv1753102,nssv1753135,nssv1753125,nssv1753074,nssv1753095,nssv1753071,nssv1753130,nssv1753137,nssv1753108,nssv1753067,nssv1753098,nssv1753056,nssv1753105,nssv1753057,nssv1753097,nssv1753064,nssv1753147,nssv1753063,nssv1753146,nssv1753140,nssv1753144,nssv1753055,nssv1753148,nssv1753112 M 97 10 0 TNFRSF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv525898 1 12141461 12168523 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv702102 M 2026 0 1 TNFRSF8 esv3350116 1 12143034 12143045 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863676 M 185 1 0 TNFRSF8 NA12005 nsv4045405 1 12145308 12152938 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846821 M 10847 0 1 TNFRSF8 nsv4044389 1 12149918 12149995 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846831 M 10847 0 1 TNFRSF8 nsv5416402 1 12149920 12149995 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16893250 M 3202 0 1 TNFRSF8 nsv5578828 1 12150123 12150219 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060027 M 35 0 1 TNFRSF8 HG03065 nsv5981015 1 12150153 12150249 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534788 M 405 0 1 TNFRSF8 esv1290308 1 12150193 12150291 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4317882 M 2 0 1 TNFRSF8 HuRef esv3652819 1 12150467 12150591 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464645 M 20 0 1 TNFRSF8 nsv6324644 1 12153138 12154920 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051304 M 19652 0 1 TNFRSF8 dgv109n152 1 12153834 12154180 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3208641,nsv3526515 M 9 0 3 TNFRSF8 HG00731,HG00733,NA19240 nsv508891 1 12157977 12295102 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619770 M 4 1 0 MIR4632,MIR7846,TNFRSF1B,TNFRSF8,VPS13D NA10860 nsv6539184 1 12159219 12160229 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249899 M 19652 0 0 TNFRSF8 nsv5879421 1 12162030 12162549 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349805 M 914 0 1 TNFRSF8 nsv4049679 1 12162030 12162551 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846840 M 10847 0 1 TNFRSF8 nsv6329127 1 12162030 12162551 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051306 M 19652 0 1 TNFRSF8 nsv6537050 1 12162629 12163288 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249900 M 19652 0 0 TNFRSF8 esv3585231 1 12165800 12168667 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9855978 M 2504 0 1 TNFRSF8 HG00136 esv2670946 1 12165895 12168936 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6516150 M 1151 0 1 TNFRSF8 HG00136 nsv5417218 1 12165911 12168785 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894184 M 3202 0 1 TNFRSF8 nsv6324939 1 12170518 12171278 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051308 M 19652 0 1 TNFRSF8 nsv5724549 1 12174762 12174762 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17241580 M 3202 1 0 TNFRSF8 nsv4046525 1 12174766 12175156 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846851 M 10847 0 1 TNFRSF8 nsv6541927 1 12176737 12177140 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249901 M 19652 0 0 TNFRSF8 esv2743796 1 12177282 12178389 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6747771 M 96 0 1 TNFRSF8 SSM056 nsv476183 1 12181310 12181310 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013757 M 9 1 0 TNFRSF8 NA12878 nsv1133810 1 12182513 12182575 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969381 M 2 0 1 TNFRSF8 KWS2 nsv5981017 1 12182557 12182637 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517761 M 405 0 1 TNFRSF8 nsv5534964 1 12184934 12184985 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894186 M 3202 1 0 TNFRSF8 nsv6053266 1 12184936 12184936 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533950 M 405 1 0 TNFRSF8 nsv5607191 1 12184940 12184940 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060882 M 35 1 0 TNFRSF8 HG01114 nsv5980884 1 12193607 12193917 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527315 M 405 0 1 TNFRSF8 esv3584475 1 12194451 12277664 CNV gain Mokhtar_et_al_2014 24956385 SNP array essv9838752 M 34 1 0 MIR4632,MIR7846,TNFRSF1B,TNFRSF8 2RB nsv3169366 1 12194745 12230631 CNV duplication Fu_et_al_2018 29476164 SNP array nssv14242632 M 93 1 0 MIR7846,TNFRSF1B,TNFRSF8 NGO_25 nsv945773 1 12196188 12197498 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753177,nssv1754170,nssv1754159,nssv1754172,nssv1753170,nssv1754139,nssv1754110,nssv1754168,nssv1753165,nssv1754141,nssv1753173,nssv1754138,nssv1754155,nssv1754150,nssv1753175,nssv1754149,nssv1753178,nssv1754145,nssv1754154,nssv1754140,nssv1753167,nssv1754135,nssv1753164,nssv1754129,nssv1754161,nssv1754127,nssv1754113,nssv1754130,nssv1753180,nssv1754124,nssv1753160,nssv1754126,nssv1754160,nssv1754120,nssv1754108,nssv1754143,nssv1754163,nssv1754169,nssv1753159,nssv1754116,nssv1753169,nssv1754151,nssv1753179,nssv1754114,nssv1753181,nssv1754117,nssv1753157,nssv1754119,nssv1754158,nssv1754142,nssv1753176,nssv1754136,nssv1753168,nssv1754166,nssv1753172,nssv1754131,nssv1753158,nssv1754153,nssv1754111,nssv1754123,nssv1754112,nssv1754164,nssv1753156,nssv1754152,nssv1754157,nssv1754171,nssv1753171,nssv1754132,nssv1753174,nssv1754137,nssv1753163,nssv1754146,nssv1753183,nssv1754173,nssv1753182,nssv1754128,nssv1754156,nssv1754148,nssv1753152,nssv1754115,nssv1754109,nssv1754133,nssv1753166,nssv1754144,nssv1753155,nssv1754122,nssv1753154,nssv1754147,nssv1753162,nssv1754167,nssv1753161,nssv1754125,nssv1754162,nssv1754165,nssv1753153,nssv1754134,nssv1754118 M 97 10 0 TNFRSF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4459225 1 12196395 12196396 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027152 M 10847 1 0 TNFRSF8 nsv4036108 1 12196962 12197598 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845719 M 10847 0 1 TNFRSF8 nsv3561562 1 12199005 12199005 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14330590,nssv14330591,nssv14330592 M 9 3 0 TNFRSF8 NA19238,NA19239,NA19240 nsv5613078 1 12199005 12199005 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060891 M 35 1 0 TNFRSF8 NA19238 nsv5886987 1 12199005 12199070 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17367615 M 914 1 0 TNFRSF8 nsv4517125 1 12199005 12199073 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963012 M 10847 1 0 TNFRSF8 nsv5418591 1 12199005 12199073 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894187 M 3202 1 0 TNFRSF8 esv3439333 1 12199006 12199006 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8824952 M 185 1 0 TNFRSF8 NA19240 nsv6052975 1 12199030 12199030 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524661 M 405 1 0 TNFRSF8 nsv3065696 1 12199033 12199033 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033591 M 2 1 0 TNFRSF8 CHM1 nsv2800601 1 12199045 12199045 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686468 M 2 1 0 TNFRSF8 nsv3319819 1 12199045 12199045 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480476,nssv14487481 M 14 2 0 TNFRSF8 CHM1,NA19240 nsv3184923 1 12199050 12199116 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387371 M 9 0 0 TNFRSF8 NA19240 nsv4765739 1 12199058 12199058 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16294588 M 25 1 0 TNFRSF8 nsv820293 1 12203578 12203762 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419048 M 2 0 1 TNFRSF8 AK1 nsv4043289 1 12204426 12204684 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845729 M 10847 0 1 "" nsv5881668 1 12205170 12205646 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368837 M 914 0 1 "" nsv5879560 1 12208789 12208862 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363584 M 914 0 1 "" nsv4033472 1 12208789 12208863 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845738 M 10847 0 1 "" nsv5421501 1 12208789 12208863 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894189 M 3202 0 1 "" nsv1144353 1 12214576 12214629 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995104 M 2 0 1 "" KWS1 nsv471622 1 12215264 12431643 CNV gain+loss Sharp_et_al_2005 15918152 BAC aCGH,FISH nssv550323,nssv550343,nssv550336,nssv550335,nssv550324,nssv550321,nssv550337,nssv550342,nssv550319,nssv550334,nssv550330,nssv550333,nssv550332,nssv550327,nssv550322,nssv550326,nssv550338,nssv550325,nssv550329,nssv550331,nssv550320,nssv550340,nssv550341,nssv550339,nssv550328,nssv550318 M 48 1 25 MIR4632,MIR7846,TNFRSF1B,VPS13D NA10492,NA10494,NA10967,NA10969,NA10970,NA10971,NA10976,NA10979,NA11776,NA15724,NA15725,NA15726,NA15727,NA15728,NA15730,NA15732,NA15733,NA16688,NA17014,NA17015,NA17017,NA17020,NA17051,NA17052,NA17059,P86GA nsv527024 1 12224239 12267265 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703399 M 2026 0 1 MIR4632,MIR7846,TNFRSF1B nsv5883335 1 12234196 12234246 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349987 M 914 0 1 TNFRSF1B nsv5578790 1 12234196 12234252 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060899 M 35 0 1 TNFRSF1B NA19238 dgv110n152 1 12234196 12234259 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3201484,nsv3191792 M 9 0 2 TNFRSF1B NA19238,NA19240 nsv5619552 1 12234211 12234211 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060900 M 35 1 0 TNFRSF1B HG03125 esv3658965 1 12234217 12234217 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16482273 M 20 1 0 TNFRSF1B nsv6042567 1 12234217 12234217 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527665 M 405 1 0 TNFRSF1B nsv5421750 1 12238779 12245245 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894191 M 3202 1 0 TNFRSF1B nsv545437 1 12240824 12244258 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710015 M 17421 0 1 TNFRSF1B dgv112n54 1 12242759 12246175 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545438,nsv545439 M 17421 0 4 TNFRSF1B nsv1145321 1 12243677 12243737 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982415 M 2 0 1 TNFRSF1B KWS1 nsv5966054 1 12243874 12243874 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360553 M 914 1 0 TNFRSF1B dgv113n54 1 12244258 12249020 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545441,nsv545440 M 17421 0 2 TNFRSF1B nsv4516555 1 12251507 12251589 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845745 M 10847 0 1 TNFRSF1B nsv5431646 1 12252154 12265401 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894206 M 3202 1 0 TNFRSF1B nsv5432536 1 12264081 12265406 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894216 M 3202 0 1 TNFRSF1B nsv5827948 1 12278809 12281336 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464223,nssv17451414 M 914 0 0 "" nsv5877240 1 12280324 12286996 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17366312 M 914 1 0 "" nsv6319801 1 12280324 12286997 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199317 M 19652 1 0 "" nsv5827949 1 12280409 12282936 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466381,nssv17451490 M 914 0 0 "" nsv5827838 1 12283287 12286086 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457079,nssv17455019 M 914 0 0 "" nsv6329277 1 12283454 12285656 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051395 M 19652 0 1 "" dgv19n209 1 12284287 12288164 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5827950,nsv5827636 M 914 0 0 "" nsv5869763 1 12290752 12290836 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358069 M 914 0 1 VPS13D nsv5980970 1 12290752 12290837 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523982 M 405 0 1 VPS13D nsv6321279 1 12291558 12293657 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051396 M 19652 0 1 VPS13D nsv4051130 1 12291806 12293833 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845755 M 10847 0 1 VPS13D nsv6544375 1 12296687 12297348 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249908 M 19652 0 0 VPS13D nsv6537080 1 12297909 12298972 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249909 M 19652 0 0 VPS13D nsv5546696 1 12299862 12299906 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894227 M 3202 1 0 VPS13D nsv6548363 1 12307140 12307971 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249910 M 19652 0 0 VPS13D nsv4044546 1 12310256 12313120 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845763 M 10847 0 1 VPS13D nsv5881413 1 12310907 12311161 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365823 M 914 0 1 VPS13D nsv5980817 1 12310940 12311108 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529397 M 405 0 1 VPS13D nsv6057358 1 12311147 12311147 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518098 M 405 1 0 VPS13D nsv6537806 1 12312729 12314582 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249911 M 19652 0 0 VPS13D nsv6536197 1 12315295 12315947 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249912 M 19652 0 0 VPS13D nsv4458913 1 12333396 12333397 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025184 M 10847 1 0 VPS13D nsv6551294 1 12334262 12335281 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249913 M 19652 0 0 VPS13D nsv5870239 1 12334264 12334398 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368567 M 914 0 1 VPS13D nsv6543432 1 12334292 12335005 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249914 M 19652 0 0 VPS13D nsv6535775 1 12334597 12334862 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249915 M 19652 0 0 VPS13D nsv6330056 1 12335558 12338057 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051397 M 19652 0 1 VPS13D esv275384 1 12354307 12357076 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585374 M 1250 0 1 VPS13D nsv4458914 1 12357312 12357313 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025195 M 10847 1 0 VPS13D nsv5887295 1 12359596 12359683 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365863 M 914 0 1 VPS13D nsv4750964 1 12359673 12359673 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16268550 M 25 1 0 VPS13D nsv6046599 1 12359707 12359707 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533872 M 405 1 0 VPS13D nsv517848 1 12373748 12642243 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv695253 M 2026 1 0 DHRS3,MIR6730,SNORA59A,SNORA59B,VPS13D esv3693318 1 12382631 12755705 CNV gain Palta_et_al_2015 25853576 SNP array essv16508324,essv16508327,essv16508348,essv16508350 M 199 4 0 AADACL4,DHRS3,MIR6730,SNORA59A,SNORA59B,VPS13D C010054,C010055,C010073,C010074 nsv6537492 1 12388886 12390354 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249916 M 19652 0 0 VPS13D nsv2743 1 12392606 12437500 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7522 M 9 0 1 VPS13D NA12156 nsv6325524 1 12398130 12398712 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051398 M 19652 0 1 VPS13D nsv5719372 1 12411051 12411051 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17244074,nssv17238666 M 3202 2 0 VPS13D nsv6550060 1 12411653 12412106 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249917 M 19652 0 0 VPS13D nsv3200336 1 12411894 12412098 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14331909,nssv14331908 M 9 0 2 VPS13D HG00731,NA19240 nsv5690380 1 12420102 12420102 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17173834 M 3202 1 0 VPS13D nsv5401272 1 12420102 12420153 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894257 M 3202 1 0 VPS13D nsv6545859 1 12437129 12437835 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249918 M 19652 0 0 VPS13D nsv5723586 1 12445522 12445522 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17234711 M 3202 1 0 VPS13D esv2743809 1 12447325 12447896 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6735973 M 96 0 1 VPS13D SSM050 nsv1122298 1 12459695 12459749 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969749 M 2 0 1 VPS13D KWS2 nsv5567052 1 12459735 12459833 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060903 M 35 0 1 VPS13D HG03486 nsv5869844 1 12459735 12459833 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354598 M 914 0 1 VPS13D nsv4517451 1 12459737 12459834 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845782 M 10847 0 1 VPS13D nsv5413983 1 12459737 12459834 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894259 M 3202 0 1 VPS13D nsv5427859 1 12466154 12466292 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894260 M 3202 1 0 VPS13D nsv4046369 1 12466159 12466292 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963013 M 10847 1 0 VPS13D nsv5570658 1 12467580 12467651 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060905 M 35 0 1 VPS13D NA18939 nsv5422039 1 12467585 12467652 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894261 M 3202 0 1 VPS13D nsv2854 1 12470692 12516109 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6975 M 9 0 1 VPS13D NA12156 nsv5961396 1 12475650 12475650 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17365803 M 914 1 0 VPS13D nsv4537204 1 12475650 12475651 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025204 M 10847 1 0 VPS13D nsv3319603 1 12475651 12475651 CNV sva insertion Audano_et_al_2019 30661756 Sequencing nssv14475834 M 14 1 0 VPS13D HG01352 nsv4759387 1 12475657 12475657 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16263751 M 25 1 0 VPS13D nsv6050777 1 12475661 12475661 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534030 M 405 1 0 VPS13D nsv5722603 1 12475666 12475666 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236265,nssv17242059 M 3202 2 0 VPS13D nsv6243858 1 12475666 12475666 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856668 M 1021 1 0 VPS13D nsv6243969 1 12482390 12482390 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856673 M 1021 1 0 VPS13D nsv5423877 1 12482437 12482737 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894263 M 3202 1 0 VPS13D esv2667673 1 12485247 12489589 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6421919 M 1151 0 1 VPS13D HG00232 esv3585233 1 12485343 12489556 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9856104 M 2504 0 1 VPS13D HG00232 nsv5416076 1 12485379 12489557 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894264 M 3202 0 1 VPS13D nsv6536095 1 12492313 12492841 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249919 M 19652 0 0 VPS13D nsv5575131 1 12500840 12500910 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060906 M 35 0 1 VPS13D NA19239 nsv5877864 1 12500840 12500910 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360335 M 914 0 1 VPS13D nsv3525202 1 12500840 12500911 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14333812 M 9 0 1 VPS13D NA19239 nsv4518212 1 12500843 12500911 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845798 M 10847 0 1 VPS13D nsv5420520 1 12500843 12500911 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894266 M 3202 0 1 VPS13D nsv528439 1 12502427 12506960 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705034 M 2026 0 1 VPS13D nsv4559610 1 12507538 12508055 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788974 M 10847 0 0 VPS13D nsv817617 1 12508943 12533468 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417810 M 112 0 1 VPS13D NA18853 nsv5573264 1 12524429 12524554 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060912 M 35 0 1 VPS13D HG03065 nsv4048393 1 12524431 12524555 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845809 M 10847 0 1 VPS13D nsv5423834 1 12524431 12524555 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894267 M 3202 0 1 VPS13D nsv4459226 1 12530096 12530097 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025223 M 10847 1 0 VPS13D nsv4755696 1 12542802 12542802 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16290090 M 25 1 0 VPS13D nsv6050205 1 12542824 12542824 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530796 M 405 1 0 VPS13D nsv1124560 1 12550600 12553100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976614 M 2 1 0 VPS13D KWS2 nsv6327001 1 12553154 12554665 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051400 M 19652 0 1 VPS13D nsv6320930 1 12572598 12574476 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051401 M 19652 0 1 "" nsv6325030 1 12573053 12576952 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051402 M 19652 0 1 "" nsv4042296 1 12573419 12577194 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846565 M 10847 0 1 "" nsv5427009 1 12573419 12577194 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894268 M 3202 0 1 "" nsv5869016 1 12576451 12576750 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350405 M 914 0 1 "" esv3546344 1 12584848 12584968 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9745091 M 767 0 1 "" nsv5430734 1 12584848 12584968 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894269 M 3202 0 1 "" nsv5718989 1 12586666 12586666 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17238440,nssv17233895 M 3202 2 0 "" nsv5557965 1 12586666 12586717 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894270 M 3202 1 0 "" nsv4033084 1 12590130 12590245 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846575 M 10847 0 1 "" nsv6317136 1 12590751 12592084 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051405 M 19652 0 1 "" nsv5432336 1 12591239 12592083 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894271 M 3202 0 1 "" nsv4038393 1 12591239 12592084 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846583 M 10847 0 1 "" nsv4537076 1 12593688 12593689 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025232 M 10847 1 0 "" nsv6328139 1 12594375 12597145 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051406 M 19652 0 1 "" nsv5876950 1 12594414 12594806 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359603 M 914 0 1 "" nsv5716678 1 12594925 12594925 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17242539 M 3202 1 0 "" nsv6333386 1 12598865 12689039 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199336 M 19652 1 0 DHRS3,MIR6730 esv2758922 1 12599168 13877055 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756835,esv2757724 M 270 34 25 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,HNRNPCP5,LOC649330,LRRC38,MIR6730,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA07000,NA07345,NA07348,NA10831,NA10838,NA10847,NA10851,NA10854,NA10857,NA12004,NA12044,NA12057,NA12239,NA12249,NA12717,NA12752,NA12753,NA12761,NA12762,NA12763,NA12873,NA12874,NA18515,NA18532,NA18552,NA18593,NA18609,NA18611,NA18622,NA18624,NA18861,NA18863,NA18949,NA18951,NA18953,NA18961,NA18965,NA18967,NA18969,NA18970,NA18981,NA18990,NA18991,NA18995,NA18997,NA19007,NA19092,NA19094,NA19103,NA19119,NA19120,NA19127,NA19129,NA19154,NA19159,NA19161,NA19171,NA19173 nsv521737 1 12599422 12684837 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694501 M 2026 0 1 DHRS3,MIR6730 nsv4045367 1 12604577 12604666 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846591 M 10847 0 1 "" nsv5827956 1 12605461 12654986 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464081 M 914 0 0 DHRS3,MIR6730 dgv111n152 1 12605708 12606047 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3192301,nsv3200088 M 9 0 5 "" HG00512,HG00513,HG00514,HG00732,NA19239 nsv5419790 1 12607269 12607337 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894273 M 3202 0 1 "" nsv5433075 1 12609157 12609260 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894283 M 3202 1 0 "" nsv4558181 1 12610387 12610388 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025243 M 10847 1 0 "" nsv4048788 1 12610905 12619214 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846599 M 10847 0 1 "" nsv5980903 1 12619489 12620677 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17527807 M 405 1 0 "" nsv5867865 1 12619577 12620760 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17357164 M 914 1 0 "" nsv4037187 1 12619577 12620792 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963014 M 10847 1 0 "" nsv5427196 1 12619577 12620792 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894294 M 3202 1 0 "" nsv6332067 1 12620052 12620686 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051407 M 19652 0 1 "" nsv466172 1 12625101 12670396 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541787 M 1557 0 1 DHRS3,MIR6730 NINDS_71 nsv545442 1 12625101 12670396 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173675 M 17421 0 1 DHRS3,MIR6730 NINDS_71 nsv466283 1 12625101 12684837 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541870 M 1557 1 0 DHRS3,MIR6730 HGDP00259 nsv545443 1 12625101 12684837 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173676 M 17421 1 0 DHRS3,MIR6730 HGDP00259 esv3310510 1 12625610 12625621 CNV novel sequence insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843569 M 185 1 0 "" NA19240 esv3379200 1 12625611 12625621 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740934 M 185 1 0 "" NA19240 nsv3931827 1 12625704 12625704 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189591 M 1 1 0 "" HG002 nsv4444664 1 12625704 12625704 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15763765 M 1 1 0 "" nsv5538268 1 12625704 12625704 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894305 M 3202 1 0 "" nsv5608844 1 12625704 12625704 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060918 M 35 1 0 "" HG00732 nsv5951831 1 12625704 12625704 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17369254 M 914 1 0 "" nsv6045839 1 12625704 12625704 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528515 M 405 1 0 "" esv3673765 1 12625704 12625705 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16495592 M 20 0 0 "" nsv3172638 1 12625704 12626423 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389485 M 9 0 0 "" NA19240 nsv3319376 1 12625705 12625705 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481746,nssv14481577 M 14 2 0 "" HG02818,NA19240 nsv4751783 1 12625705 12625705 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16276833 M 25 1 0 "" nsv6244078 1 12629414 12629414 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856770 M 1021 1 0 DHRS3 nsv4045898 1 12631293 12631356 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846609 M 10847 0 1 DHRS3 nsv5427902 1 12635165 12637723 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894338 M 3202 0 1 DHRS3 nsv5873670 1 12635227 12637722 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355179 M 914 0 1 DHRS3 nsv5827751 1 12635237 12637869 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452923,nssv17451591 M 914 0 0 DHRS3 nsv4038565 1 12635884 12694687 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963015 M 10847 1 0 DHRS3,MIR6730 nsv5980904 1 12636000 12694793 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17526285 M 405 1 0 DHRS3,MIR6730 esv3659086 1 12649445 12649445 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16482381 M 20 1 0 DHRS3 nsv1126179 1 12655300 12655900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984408 M 2 0 1 DHRS3 KWS1 nsv955253 1 12655401 12656200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001811 M 1 0 1 DHRS3 BILGI_BIOE nsv6326434 1 12659656 12660226 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051408 M 19652 0 1 DHRS3 nsv1011540 1 12661635 12892297 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472793 M 11257 0 1 AADACL3,AADACL4,C1orf158,DHRS3,PRAMEF1,PRAMEF11,PRAMEF12 nsv475178 1 12665400 12665400 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011930 M 9 1 0 DHRS3 NA19240 nsv475134 1 12665456 12665456 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019533 M 9 1 0 DHRS3 NA19240 esv3659159 1 12666315 12666315 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16482447 M 20 1 0 DHRS3 nsv4033379 1 12671167 12671815 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846627 M 10847 0 1 DHRS3 nsv4044378 1 12672832 12672960 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846638 M 10847 0 1 DHRS3 nsv428410 1 12674391 13795127 CNV gain+loss Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv454221,nssv454232,nssv454243,nssv454154,nssv454176,nssv454165,nssv453130 M 62 6 1 AADACL3,AADACL4,C1orf158,DHRS3,HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 HGDP00450,HGDP00462,HGDP00463,HGDP00473,NA18916,NA19096,NA19189 nsv5419482 1 12674459 12674513 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894349 M 3202 1 0 DHRS3 nsv5687162 1 12674727 12674727 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17173501 M 3202 1 0 DHRS3 esv3656321 1 12677820 12677897 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16479893 M 20 0 0 "" nsv4035761 1 12683000 12688000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846648 M 10847 0 1 "" nsv5886027 1 12684099 12684153 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352080 M 914 0 1 "" nsv5417666 1 12684101 12684154 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894360 M 3202 0 1 "" nsv4050955 1 12684101 12684192 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846655 M 10847 0 1 "" nsv5980905 1 12685873 12686182 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533693 M 405 0 1 "" nsv4035341 1 12687088 12691003 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846665 M 10847 0 1 "" nsv6327417 1 12687744 12688881 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051409 M 19652 0 1 "" nsv5870908 1 12687922 12689081 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353212 M 914 0 1 "" nsv6323848 1 12690411 12691430 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199337 M 19652 1 0 "" nsv4046552 1 12690481 12690547 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847243 M 10847 0 1 "" esv3659262 1 12693678 12693678 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16482540 M 20 1 0 "" nsv6323128 1 12697299 12700346 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051410 M 19652 0 1 "" esv3655963 1 12698993 12699053 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16464928 M 20 0 1 "" nsv6543342 1 12701768 12702797 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249920 M 19652 0 0 "" nsv5423856 1 12702752 12712158 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894362 M 3202 0 1 AADACL4 esv3585236 1 12702989 12712048 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9856121 M 2504 0 1 AADACL4 HG01918 nsv5872560 1 12704894 12705197 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361967 M 914 0 1 AADACL4 nsv3319179 1 12704934 12704934 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475469 M 14 1 0 AADACL4 HG02106 nsv3319377 1 12704968 12705037 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478743 M 14 0 1 AADACL4 HG02106 nsv3319180 1 12705109 12705109 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488802 M 14 1 0 AADACL4 HG02106 nsv3319181 1 12705179 12705241 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485003 M 14 0 1 AADACL4 HG02106 nsv5617145 1 12705268 12705268 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060920 M 35 1 0 AADACL4 HG03732 nsv5425452 1 12707913 12708630 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894363 M 3202 0 1 AADACL4 nsv4050055 1 12709862 12718035 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847252 M 10847 0 1 AADACL4 nsv4563467 1 12713822 12713823 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027168 M 10847 1 0 AADACL4 nsv6321668 1 12714754 12716236 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051411 M 19652 0 1 AADACL4 nsv4037877 1 12714756 12716236 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847265 M 10847 0 1 AADACL4 nsv5620724 1 12718150 12718150 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060921 M 35 1 0 AADACL4 NA19239 nsv5957645 1 12718177 12718177 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350225 M 914 1 0 AADACL4 nsv515525 1 12719211 12723184 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv687835,nssv655876,nssv691346,nssv663825 M 2026 0 4 AADACL4 nsv5421424 1 12732777 12732962 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894364 M 3202 0 1 "" nsv6540824 1 12736688 12737337 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249921 M 19652 0 0 "" nsv5609458 1 12737561 12737561 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060922 M 35 1 0 "" NA19238 nsv6044685 1 12737561 12737561 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520694 M 405 1 0 "" esv3673809 1 12737561 12737562 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16495631 M 20 0 0 "" nsv4459227 1 12737561 12737562 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027178 M 10847 1 0 "" nsv3319378 1 12737562 12737562 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14484828,nssv14484792 M 14 2 0 "" HG02818,NA19434 nsv4760078 1 12737568 12737568 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16260703 M 25 1 0 "" nsv5553230 1 12737575 12737575 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894366 M 3202 1 0 "" nsv5683985 1 12737575 12737575 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17173912,nssv17205639 M 3202 2 0 "" nsv6244189 1 12737575 12737575 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856802 M 1021 1 0 "" esv3659390 1 12737629 12737629 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16482655 M 20 1 0 "" nsv6324852 1 12742911 12745410 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051412 M 19652 0 1 "" nsv8657 1 12743147 12747960 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv12449,nssv28045 M 31 0 2 "" NA18853,NA19173 esv1936135 1 12743293 12746737 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4851711 M 1 0 1 "" NA18507 nsv6331566 1 12743393 12751897 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051413 M 19652 0 1 "" nsv5871089 1 12743401 12751973 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368860 M 914 0 1 "" nsv6333575 1 12743404 12746628 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051414 M 19652 0 1 "" nsv5570595 1 12743405 12746547 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060923 M 35 0 1 "" HG02587 nsv5880801 1 12743405 12746623 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363183 M 914 0 1 "" esv2667361 1 12743405 12746628 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6067103,essv5817963,essv6144014,essv5539803,essv5909270,essv5655474,essv6424701,essv5788887,essv5519525,essv6295698,essv5683600,essv6413214,essv6114312,essv5606588,essv5955844,essv5714381,essv6597293,essv6292295,essv6457931,essv6225797,essv6335145,essv5973727 M 1151 0 22 "" HG01191,HG01365,NA18522,NA18867,NA18874,NA19102,NA19312,NA19334,NA19346,NA19374,NA19383,NA19443,NA19444,NA19453,NA19468,NA19470,NA19474,NA19818,NA19834,NA19908,NA19920,NA19982 nsv4517164 1 12743405 12746628 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847274 M 10847 0 1 "" nsv5414780 1 12743405 12746628 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894368 M 3202 0 1 "" esv3585238 1 12743419 12746634 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9856677,essv9856728,essv9856716,essv9856680,essv9856725,essv9856715,essv9856681,essv9856736,essv9856717,essv9856678,essv9856730,essv9856683,essv9856739,essv9856679,essv9856733,essv9856682,essv9856727,essv9856707,essv9856734,essv9856712,essv9856722,essv9856710,essv9856723,essv9856693,essv9856726,essv9856689,essv9856735,essv9856705,essv9856729,essv9856685,essv9856720,essv9856711,essv9856732,essv9856700,essv9856738,essv9856697,essv9856724,essv9856701,essv9856721,essv9856684,essv9856718,essv9856698,essv9856737,essv9856692,essv9856731,essv9856704,essv9856719,essv9856703,essv9856675,essv9856696,essv9856676,essv9856699,essv9856673,essv9856706,essv9856672,essv9856690,essv9856674,essv9856687,essv9856743,essv9856694,essv9856756,essv9856686,essv9856745,essv9856691,essv9856754,essv9856713,essv9856758,essv9856709,essv9856755,essv9856688,essv9856741,essv9856714,essv9856747,essv9856695,essv9856757,essv9856708,essv9856742,essv9856702,essv9856752,essv9856750,essv9856740,essv9856749,essv9856746,essv9856753,essv9856744,essv9856751,essv9856759,essv9856748 M 2504 0 88 "" HG01058,HG01191,HG01241,HG01365,HG01396,HG01880,HG01894,HG01956,HG02307,HG02322,HG02334,HG02464,HG02554,HG02561,HG02574,HG02583,HG02585,HG02589,HG02614,HG02629,HG02722,HG02814,HG02852,HG02923,HG02970,HG02971,HG02977,HG03027,HG03057,HG03109,HG03118,HG03139,HG03166,HG03199,HG03280,HG03298,HG03300,HG03352,HG03370,HG03436,HG03437,HG03451,HG03455,HG03499,HG03511,HG03538,NA18488,NA18489,NA18498,NA18507,NA18522,NA18853,NA18867,NA18874,NA18924,NA18933,NA19102,NA19118,NA19171,NA19175,NA19198,NA19207,NA19312,NA19320,NA19321,NA19327,NA19334,NA19346,NA19374,NA19383,NA19391,NA19443,NA19454,NA19468,NA19474,NA19818,NA19834,NA19908,NA19913,NA19920,NA19982,NA20276,NA20287,NA20291,NA20332,NA20342,NA20356,NA20357 nsv5827957 1 12743441 12746645 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453303 M 914 0 0 "" nsv6333266 1 12744511 12746612 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051415 M 19652 0 1 "" nsv6327998 1 12746259 12748420 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051416 M 19652 0 1 "" nsv5874137 1 12746628 12752042 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17351724 M 914 1 0 "" esv3302784 1 12746701 12752055 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7734122,essv7733193,essv7732052,essv7737228 M 185 4 0 "" NA18498,NA18507,NA18522,NA18853 nsv545444 1 12747871 12787632 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710022 M 17421 0 1 AADACL3 nsv5679738 1 12751883 12751883 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205640 M 3202 1 0 "" nsv5395049 1 12751883 12751934 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894369 M 3202 1 0 "" nsv6538377 1 12754101 12754640 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249922 M 19652 0 0 "" nsv4048218 1 12757705 12757865 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847282 M 10847 0 1 "" nsv4052313 1 12758967 12763993 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847663 M 10847 0 1 "" nsv6320453 1 12758968 12763993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051417 M 19652 0 1 "" nsv5827958 1 12763595 12785448 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462356 M 914 0 0 AADACL3 nsv999658 1 12768962 12859401 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3462862 M 11257 1 0 AADACL3,C1orf158,PRAMEF1,PRAMEF12 nsv4048745 1 12774000 12830000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963016 M 10847 1 0 AADACL3,C1orf158 nsv466394 1 12774999 12913896 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv541946 M 1557 1 0 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00153 nsv545445 1 12774999 12913896 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173677 M 17421 1 0 AADACL3,C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00153 nsv6327595 1 12775503 12776126 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051419 M 19652 0 1 AADACL3 nsv5873105 1 12783638 12783917 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357189 M 914 0 1 AADACL3 nsv6318496 1 12787493 12788376 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051420 M 19652 0 1 AADACL3 nsv4039380 1 12787494 12788376 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847673 M 10847 0 1 AADACL3 nsv5980906 1 12802499 12805314 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529909 M 405 0 1 "" nsv5827959 1 12805104 12807103 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462298,nssv17464167 M 914 0 0 C1orf158 nsv5689398 1 12805272 12805272 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205643 M 3202 1 0 "" nsv5871164 1 12805272 12807018 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357519 M 914 0 1 C1orf158 esv2664000 1 12805272 12807019 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6305105,essv6592404,essv6463242,essv6438790,essv5405133,essv5800624,essv6234108,essv6145854 M 1151 0 8 C1orf158 NA18873,NA18908,NA19189,NA19350,NA19375,NA19393,NA19396,NA19397 nsv4036104 1 12805272 12807019 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847682 M 10847 0 1 C1orf158 nsv5429840 1 12805272 12807019 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894370 M 3202 0 1 C1orf158 nsv6318572 1 12805272 12807019 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051421 M 19652 0 1 C1orf158 nsv5578443 1 12805274 12807017 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060360 M 35 0 1 C1orf158 HG02587 esv3585239 1 12805277 12807017 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9856772,essv9856761,essv9856775,essv9856770,essv9856766,essv9856776,essv9856769,essv9856762,essv9856774,essv9856771,essv9856763,essv9856773,essv9856765,essv9856768,essv9856760,essv9856767,essv9856764 M 2504 0 17 C1orf158 HG02585,HG02611,HG02624,HG02896,HG03311,HG03432,HG03437,NA18873,NA18876,NA18908,NA18917,NA19041,NA19189,NA19350,NA19375,NA19393,NA19397 nsv1000876 1 12806772 12845851 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464831 M 11257 1 0 C1orf158,PRAMEF12 dgv19n100 1 12806772 12862325 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008869,nsv1000875,nsv1001619,nsv1005569 M 11257 0 6 C1orf158,PRAMEF1,PRAMEF12 nsv4052064 1 12806940 12864030 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847691 M 10847 0 1 C1orf158,PRAMEF1,PRAMEF12 nsv6318631 1 12806940 12864074 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051422 M 19652 0 1 C1orf158,PRAMEF1,PRAMEF12 nsv832869 1 12807473 13019190 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1442785,nssv1442796 M 95 1 1 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv6325673 1 12807699 12816934 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051423 M 19652 0 1 C1orf158 dgv49n223 1 12812249 13013926 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6334674,nsv6319543 M 19652 2 0 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv6318706 1 12812650 12813449 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051424 M 19652 0 1 C1orf158 esv3670128 1 12817236 12817236 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492319 M 20 1 0 C1orf158 nsv470695 1 12820870 12913895 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547700,nssv547702,nssv547703,nssv547699 M 443 0 4 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 HGDP00694,HGDP00702,HGDP00988,HGDP01366 nsv528703 1 12820870 12913896 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705350 M 2026 0 1 C1orf158,HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 nsv5623338 1 12822091 12822091 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060362 M 35 1 0 "" NA19238 nsv3949155 1 12822091 12822304 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180311 M 1 0 1 "" HG002 nsv4449019 1 12822091 12822304 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15767571 M 1 0 1 "" nsv5567113 1 12822091 12822515 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060361 M 35 0 1 "" NA19650 esv2743820 1 12822127 12822406 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6868705 M 96 0 1 "" SSM090 nsv4737367 1 12822212 12822420 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16283150 M 25 0 1 "" esv993047 1 12822300 12822511 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3566471 M 3 0 1 "" HuRef nsv3532547 1 12822311 12822311 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376503 M 9 1 0 "" NA19240 esv2743831 1 12822364 12822688 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6877661,essv6810336,essv6889001,essv6929055,essv6885978,essv6906093,essv6874699,essv6828994,essv6883254,essv6675194,essv6895844,essv6682819,essv6898608,essv6784989,essv6836181,essv6668941,essv6832593,essv6839966,essv6824975,essv6780863,essv6821176,essv6925686,essv6813164,essv6710575,essv6718161,essv6941776,essv6686149,essv6804398,essv6816687,essv6797443,essv6843787,essv6750591,essv6917417,essv6714238,essv6913994,essv6946489,essv6801613,essv6773436,essv6961547,essv6950546,essv6972332,essv6807369,essv6769511,essv6921711,essv6793276,essv6679162,essv6933298,essv6853230,essv6876743,essv6937672,essv6847007 M 96 0 51 "" SSM010,SSM011,SSM012,SSM014,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM027,SSM029,SSM031,SSM032,SSM033,SSM034,SSM035,SSM042,SSM043,SSM044,SSM057,SSM065,SSM066,SSM068,SSM069,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM086,SSM087,SSM092,SSM093,SSM095,SSM096,SSM097,SSM099,SSM100 nsv3949145 1 12822373 12822585 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180312 M 1 0 1 "" HG002 esv2675886 1 12822373 12822586 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6126527,essv6336754,essv5520262,essv5505675,essv6510417,essv6005544,essv6287930,essv6235165,essv6058967,essv6592665,essv6406209,essv5404687,essv6439898,essv6577367,essv6177278,essv6063830,essv5532515,essv5620807,essv6491282,essv6431794,essv6473388,essv6058056,essv6299423,essv5926872,essv5482600,essv6090606,essv5935437,essv5765233,essv5871774,essv6010476,essv5659603,essv5426264,essv6512256,essv5799357,essv5419861,essv5868901,essv5562384,essv5904803,essv5665550,essv5651837,essv5677209,essv5918135,essv6426761,essv5758328,essv5905712,essv6529726,essv5515379,essv6246470,essv6537233,essv6024529,essv5460802,essv6473981,essv5826368,essv5495259,essv6262370,essv6208122,essv6166356,essv6361226,essv6570101,essv6366982,essv5695774,essv5562366,essv5578382,essv5433406,essv6411763,essv6302626,essv5621926,essv6355760,essv5982659,essv6120765,essv6096701,essv6196589,essv5603470,essv5615211,essv5677335,essv6107192,essv5722681,essv6366537,essv6181449,essv6283018,essv6465758,essv6003184,essv5447833,essv6491360,essv5736340,essv5452155,essv6202558,essv6230668,essv5407423,essv6052039,essv6016153,essv6088444,essv6069904,essv5602383,essv5894417,essv6266973,essv5990738,essv6263308,essv5403596,essv5879992,essv5541821,essv6590468,essv6378144,essv6038423,essv5510998,essv5650813,essv6443552,essv5772282,essv6219639,essv6301739,essv5803131,essv5457382,essv5652947,essv6139444,essv6487757,essv6167736,essv6226831,essv6228319,essv6345954,essv5446171,essv6515769,essv6274035,essv6219703,essv5520232 M 1151 0 124 "" HG00123,HG00125,HG00131,HG00136,HG00139,HG00140,HG00154,HG00185,HG00237,HG00249,HG00252,HG00254,HG00256,HG00257,HG00258,HG00268,HG00271,HG00276,HG00277,HG00278,HG00282,HG00284,HG00285,HG00310,HG00313,HG00315,HG00318,HG00320,HG00324,HG00325,HG00326,HG00327,HG00330,HG00336,HG00337,HG00342,HG00346,HG00418,HG00419,HG00421,HG00422,HG00428,HG00436,HG00437,HG00442,HG00448,HG00463,HG00472,HG00475,HG00476,HG00500,HG00512,HG00513,HG00524,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00584,HG00590,HG00607,HG00613,HG00614,HG00650,HG00651,HG00663,HG00671,HG00672,HG00689,HG00690,HG00693,HG00701,HG00702,HG00704,HG00705,HG00708,HG01052,HG01055,HG01060,HG01069,HG01070,HG01073,HG01075,HG01082,HG01102,HG01108,HG01170,HG01334,HG01354,HG01365,HG01366,HG01375,HG01389,NA12829,NA18530,NA18534,NA18536,NA18543,NA18544,NA18546,NA18548,NA18557,NA18559,NA18595,NA18596,NA18597,NA18602,NA18606,NA18610,NA18613,NA18623,NA18632,NA18633,NA18635,NA18636,NA18637,NA19076,NA19390,NA19393,NA19452,NA19663,NA19819 esv3657395 1 12822373 12822587 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16480860 M 20 0 0 "" nsv3319182 1 12822446 12822446 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484069 M 14 1 0 "" NA19240 nsv6054789 1 12822499 12822499 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520442 M 405 1 0 "" nsv2800456 1 12822587 12822587 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686707 M 2 1 0 "" nsv3319822 1 12822587 12822587 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475080,nssv14476045,nssv14485700,nssv14481394 M 14 4 0 "" CHM13,HX1,NA12878,NA19240 nsv5868864 1 12823573 12823622 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351768 M 914 0 1 "" nsv4049015 1 12823895 12823974 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847699 M 10847 0 1 "" dgv114n54 1 12824223 12912088 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545448,nsv545446 M 17421 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1798860570_A nsv6330970 1 12828452 12831642 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051425 M 19652 0 1 "" dgv50n223 1 12828552 13001630 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6332458,nsv6331285,nsv6328023,nsv6318178,nsv6318789,nsv6331674,nsv6317074 M 19652 7 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 dgv6n111 1 12831481 12983506 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nsv1161103,nsv1160957,nsv1160980 M 369 3 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8 nsv998321 1 12831481 13159071 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478915 M 11257 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 nsv5619895 1 12833788 12833788 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060364 M 35 1 0 "" NA19983 nsv4560047 1 12833788 12833789 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027187 M 10847 1 0 "" nsv5723613 1 12833803 12833803 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17245650,nssv17245084 M 3202 2 0 "" nsv5559318 1 12833803 12833854 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894371 M 3202 1 0 "" dgv115n54 1 12834253 12883131 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545447,nsv545453 M 17421 0 3 PRAMEF1,PRAMEF12 dgv5n27 1 12834253 12913896 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv466505,nsv466727 M 1557 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1798860570_A,HGDP00007 dgv116n54 1 12834253 12918674 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545454,nsv545449,nsv545450,nsv545451 M 17421 0 5 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 HGDP00952,HGDP00988 dgv20n100 1 12834568 12918079 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014276,nsv1007497,nsv1001595,nsv1009348,nsv1008631,nsv1014734,nsv1000550,nsv1004963 M 11257 0 16 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 nsv945774 1 12834916 12961351 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754185,nssv1754248,nssv1754181,nssv1754244,nssv1754207,nssv1754231,nssv1754253,nssv1754263,nssv1754192,nssv1754213,nssv1754201,nssv1754230,nssv1754257,nssv1754245,nssv1754204,nssv1754232,nssv1754194,nssv1754250,nssv1754202,nssv1754243,nssv1754189,nssv1754237,nssv1754208,nssv1754225,nssv1754186,nssv1754238,nssv1754254,nssv1754236,nssv1754196,nssv1754268,nssv1754174,nssv1754223,nssv1754179,nssv1754227,nssv1754261,nssv1754239,nssv1754187,nssv1754267,nssv1754255,nssv1754219,nssv1754182,nssv1754247,nssv1754200,nssv1754270,nssv1754211,nssv1754228,nssv1754258,nssv1754240,nssv1754259,nssv1754241,nssv1754188,nssv1754224,nssv1754193,nssv1754212,nssv1754203,nssv1754214,nssv1754195,nssv1754216,nssv1754190,nssv1754249,nssv1754210,nssv1754221,nssv1754178,nssv1754265,nssv1754180,nssv1754215,nssv1754198,nssv1754251,nssv1754206,nssv1754218,nssv1754256,nssv1754234,nssv1754199,nssv1754269,nssv1754209,nssv1754266,nssv1754252,nssv1754229,nssv1754205,nssv1754220,nssv1754191,nssv1754246,nssv1754197,nssv1754217,nssv1754260,nssv1754262,nssv1754177,nssv1754235,nssv1754184,nssv1754233,nssv1754176,nssv1754264,nssv1754175,nssv1754242,nssv1754183,nssv1754226,nssv1754271 M 97 10 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv6n27 1 12835868 12913896 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv466838,nsv466616,nsv466949 M 1557 0 3 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12 1780862077_A,HGDP00952,HGDP01366 dgv117n54 1 12835868 12918674 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545456,nsv545452 M 17421 3 4 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF12,PRAMEF2 1780862077_A,HGDP00007,HGDP01366 dgv21n100 1 12835868 13015495 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002288,nsv997632,nsv1011809,nsv1010745,nsv998530,nsv998681,nsv1000920,nsv1006273,nsv1006654 M 11257 0 72 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv517190 1 12835868 13775830 CNV gain+loss Shaikh_et_al_2009 19592680 SNP array nssv677999,nssv656069,nssv680870,nssv663203,nssv690595,nssv692088,nssv675460,nssv672026,nssv705370,nssv689950,nssv674765,nssv676168,nssv653971,nssv664702,nssv659462,nssv660425,nssv671841,nssv674814,nssv651901,nssv674582,nssv654248,nssv662505,nssv691789,nssv665485,nssv655298,nssv680445,nssv675328,nssv687277,nssv677586,nssv690145,nssv687198,nssv675204,nssv666273,nssv685626,nssv652682,nssv672363,nssv684041,nssv676530,nssv676529,nssv681069,nssv660265,nssv659477,nssv681352,nssv688922,nssv680570,nssv680419,nssv680385,nssv654351,nssv662290,nssv687685,nssv658370,nssv652446,nssv669367,nssv688196,nssv683316,nssv678613,nssv682789,nssv655601,nssv659030,nssv664297,nssv678527,nssv676136,nssv658218,nssv658961,nssv688711,nssv658040,nssv660725,nssv670301,nssv668984,nssv662340,nssv684928,nssv655162,nssv692526,nssv669316,nssv664467,nssv659765,nssv702090,nssv670277,nssv661007,nssv660049,nssv663875,nssv678933,nssv662916,nssv652055,nssv683850,nssv670769,nssv681241,nssv688182,nssv668625,nssv685508,nssv688036 M 2026 21 70 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 dgv22n100 1 12836442 13471933 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1007258,nsv1005952,nsv997273,nsv1014205,nsv1000037,nsv1000597,nsv998433,nsv1007272,nsv1007972,nsv1009800,nsv1004545,nsv1011355 M 11257 13 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF15,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv5827847 1 12836652 12839094 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467120 M 914 0 0 PRAMEF12 dgv3n97 1 12837840 12852748 CNV deletion Lou_et_al_2014 25026903 SNP array nsv1155812,nsv1155639 M 131 0 2 PRAMEF1,PRAMEF12 dgv23n100 1 12837840 12883084 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005803,nsv1006151,nsv998824,nsv1010693,nsv1009173 M 11257 0 52 PRAMEF1,PRAMEF12 esv2763769 1 12837840 13871942 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv6992411,essv7032856,essv7032745,essv6994189,essv6991078,essv7032967,essv6991411,essv6991744,essv6993300,essv6992744,essv6993522,essv6994078,essv7033300,essv7033078,essv7033189,essv6992078,essv6993744,essv6992967,essv6991300,essv6991633,essv6991189,essv6993411,essv6991522,essv6993078,essv6994300,essv6992522,essv6990745,essv6993855,essv6993189,essv6992855,essv6990967,essv6991967,essv6992300,essv6992633,essv6991856,essv6990856,essv6993633,essv6993966,essv6992189 M 1109 6 32 HNRNPCL1,HNRNPCP5,LOC649330,LRRC38,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF12,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 SW_0018,SW_0029,SW_0044,SW_0048,SW_0144,SW_0338,SW_0379,SW_0576,SW_0580,SW_0585,SW_0647,SW_0758,SW_0789,SW_0805,SW_0817,SW_0859,SW_0888,SW_0890,SW_0892,SW_1029,SW_1056,SW_1070,SW_1088,SW_1095,SW_1118,SW_1170,SW_1172,SW_1198,SW_1203,SW_1215,SW_1244,SW_1263,SW_1283,SW_1356,SW_1428,SW_1460,SW_1470,SW_1509 dgv24n100 1 12838732 12892297 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002449,nsv998574 M 11257 0 3 PRAMEF1,PRAMEF11 dgv25n100 1 12838732 13187358 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997840,nsv1007137,nsv998901,nsv1001463 M 11257 0 5 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 dgv26n100 1 12838732 13471933 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000469,nsv1008135,nsv1013182,nsv1003480,nsv999070,nsv1010963,nsv1014048,nsv1012212,nsv1005987 M 11257 32 36 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF13,PRAMEF15,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 esv2764212 1 12838744 13187370 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7004965,essv7004968,essv7004969,essv7004994,essv7004970,essv7004963,essv7004998,essv7004976,essv7004964,essv7004992,essv7004991,essv7004974,essv7004973,essv7004995,essv7004975,essv7004984,essv7004972,essv7004993,essv7004981,essv7004986,essv7004979,essv7004961,essv7005002,essv7004977,essv7004982,essv7004971,essv7005003,essv7004988,essv7004962,essv7005004,essv7005001,essv7004999,essv7004990,essv7004997,essv7004985,essv7004980,essv7004983,essv7004987,essv7004996 M 1109 4 32 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 RW_0004,RW_0021,RW_0033,RW_0045,RW_0084,RW_0116,RW_0139,RW_0140,RW_0147,RW_0169,RW_0189,RW_0190,RW_0193,RW_0196,RW_0216,RW_0223,RW_0232,RW_0237,RW_0249,RW_0254,RW_0266,RW_0269,RW_0319,RW_0325,RW_0515,RW_0521,RW_0539,RW_0540,RW_0543,RW_0544,RW_0552,RW_0604,RW_0607,RW_0612,RW_0636 nsv1160970 1 12839576 12862241 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4027989 M 369 0 1 PRAMEF1 nsv1155850 1 12839576 12983506 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4015251,nssv4015240 M 131 0 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8 dgv7n111 1 12839576 13013117 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nsv1161124,nsv1161135,nsv1160996 M 369 0 3 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv3169440 1 12839576 13506862 OTHER complex Fu_et_al_2018 29476164 SNP array nssv14249545,nssv14243604,nssv14247764,nssv14246282,nssv14250810,nssv14243919,nssv14248930,nssv14247839,nssv14250817,nssv14245595,nssv14248518,nssv14249440 M 93 6 4 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NGO_12,NGO_17,NGO_23,NGO_27,NGO_35,NGO_40,NGO_45,SNI_15,SNI_17,SNI_7 dgv51n223 1 12839644 12849849 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6321377,nsv6334237,nsv6326424 M 19652 0 3 "" nsv5583016 1 12839720 12840256 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060365 M 35 0 1 "" HG00731 nsv821559 1 12839977 12893065 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1421068 M 1 1 0 PRAMEF1,PRAMEF11 NA10851 dgv13n67 1 12839977 12909555 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv828586,nsv828697 M 31 0 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 AK20,NA18969 nsv3118139 1 12839986 12866648 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14085747 M 467 0 1 PRAMEF1 sample213 nsv6321120 1 12840244 12841143 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051427 M 19652 0 1 "" nsv6323633 1 12840244 12866536 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051429 M 19652 0 1 PRAMEF1 nsv5827641 1 12840245 12850126 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454133,nssv17467121 M 914 0 0 "" nsv471539 1 12840259 12865371 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv547950,nssv547949,nssv547951 M 3 3 0 PRAMEF1 JDW,NA18507,YH nsv6320373 1 12840344 12842643 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051430 M 19652 0 1 "" nsv5428405 1 12840433 12860439 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894372 M 3202 0 1 PRAMEF1 nsv5427480 1 12840433 12896498 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894373 M 3202 0 1 PRAMEF1,PRAMEF11 nsv955254 1 12840601 12855700 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3001822 M 1 1 0 PRAMEF1 BILGI_BIOE esv28644 1 12840608 13052938 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv13474,esv11679,esv11323,esv20242,esv19152,esv11373,esv13103,esv15024,esv15812,esv16950,esv18407,esv16532,esv21420,esv18833,esv12552 M 40 36 11 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA15510,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv990214 1 12841807 12951075 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586626 M 3 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2,PRAMEF4 HuRef nsv1155851 1 12841928 12862241 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4015262 M 131 0 1 PRAMEF1 esv3584586 1 12841928 12883096 CNV loss Mokhtar_et_al_2014 24956385 SNP array essv9838624 M 34 0 1 PRAMEF1 3LK nsv1156082 1 12841928 12892309 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4017852,nssv4015284,nssv4017886,nssv4017897,nssv4017630,nssv4017875,nssv4017864,nssv4016411,nssv4017741,nssv4015295,nssv4016189,nssv4016300,nssv4015273,nssv4015345 M 131 0 14 PRAMEF1,PRAMEF11 nsv1161102 1 12841928 12892309 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4028983,nssv4028545,nssv4028767,nssv4028434,nssv4028656,nssv4028878,nssv4028323 M 369 0 7 PRAMEF1,PRAMEF11 esv2421662 1 12841928 12971833 OTHER complex Altshuler_et_al_2010 20811451 SNP array essv5159736,essv5134010,essv5040953,essv5009774,essv5109420,essv5102370,essv5029580,essv5066353,essv5115604,essv5013828,essv5115549,essv5038349,essv5106036,essv5159266,essv5018496,essv5129922,essv5051593,essv5138370,essv5124804,essv5017667,essv5065514,essv5109345,essv5084483,essv5098033,essv5018867,essv5057726,essv5089601,essv5064090,essv5041350,essv5039373,essv5131081,essv5140930,essv5088719,essv5098485,essv5038935,essv5003555,essv5053532,essv5022261,essv5133462,essv5082781,essv5061766,essv5143438,essv5122668,essv5102257,essv5116203,essv5150257,essv5109453,essv5049008,essv5006338,essv5048343,essv5073546,essv5030453,essv5120396,essv5025654,essv5012238,essv5072990,essv5107947,essv5040928,essv5122638,essv5114531,essv5111327,essv5061594,essv5077663,essv5102044,essv5068309,essv5117560,essv5053293,essv5027197,essv5089177,essv5074962,essv5097924,essv5132926,essv5024352,essv5139478,essv5023516,essv5067055,essv5034347,essv5018478,essv5050218,essv5098165,essv5024400,essv5144838,essv5116865,essv5140420,essv5121017,essv5104297,essv5128528,essv5116223,essv5059824,essv5009132 M 1184 20 70 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA10838,NA10847,NA10853,NA11891,NA11918,NA12044,NA12344,NA12375,NA12383,NA12546,NA12718,NA12753,NA12763,NA12874,NA17962,NA17965,NA17974,NA17996,NA18109,NA18135,NA18144,NA18161,NA18555,NA18559,NA18593,NA18611,NA18614,NA18617,NA18622,NA18624,NA18702,NA18863,NA18923,NA18924,NA18925,NA18951,NA18955,NA18963,NA18965,NA18969,NA18981,NA18990,NA18991,NA19066,NA19083,NA19103,NA19236,NA19313,NA19334,NA19390,NA19436,NA19468,NA19681,NA19683,NA19720,NA19721,NA19747,NA19748,NA19770,NA19789,NA19908,NA19914,NA19915,NA19919,NA20337,NA20542,NA20810,NA20818,NA20828,NA20887,NA21088,NA21102,NA21111,NA21119,NA21144,NA21316,NA21317,NA21318,NA21364,NA21367,NA21381,NA21383,NA21414,NA21512,NA21519,NA21596,NA21635,NA21636,NA21740,NA21784 esv3584589 1 12841928 13377047 CNV loss Mokhtar_et_al_2014 24956385 SNP array essv9837920 M 34 0 1 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 KSF005 esv3585240 1 12842004 12846594 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9856889,essv9856839,essv9856897,essv9856842,essv9856886,essv9856843,essv9856905,essv9856841,essv9856903,essv9856840,essv9856892,essv9856913,essv9856883,essv9856891,essv9856925,essv9856882,essv9856890,essv9856923,essv9856867,essv9856906,essv9856926,essv9856853,essv9856887,essv9856924,essv9856850,essv9856909,essv9856914,essv9856860,essv9856895,essv9856912,essv9856852,essv9856910,essv9856929,essv9856871,essv9856885,essv9856921,essv9856881,essv9856888,essv9856911,essv9856848,essv9856900,essv9856930,essv9856845,essv9856899,essv9856922,essv9856861,essv9856893,essv9856915,essv9856879,essv9856908,essv9856928,essv9856847,essv9856896,essv9856919,essv9856855,essv9856907,essv9856920,essv9856858,essv9856884,essv9856916,essv9856869,essv9856894,essv9856927,essv9856875,essv9856902,essv9856918,essv9856876,essv9856898,essv9856917,essv9856864,essv9856901,essv9856854,essv9856904,essv9856844,essv9856789,essv9856862,essv9856812,essv9856870,essv9856811,essv9856859,essv9856793,essv9856863,essv9856797,essv9856880,essv9856807,essv9856866,essv9856802,essv9856868,essv9856805,essv9856865,essv9856800,essv9856873,essv9856795,essv9856846,essv9856798,essv9856874,essv9856790,essv9856856,essv9856801,essv9856851,essv9856791,essv9856872,essv9856792,essv9856878,essv9856796,essv9856849,essv9856808,essv9856857,essv9856809,essv9856877,essv9856803,essv9856817,essv9856810,essv9856836,essv9856813,essv9856826,essv9856788,essv9856814,essv9856794,essv9856815,essv9856799,essv9856829,essv9856804,essv9856824,essv9856806,essv9856827,essv9856778,essv9856825,essv9856787,essv9856835,essv9856784,essv9856831,essv9856779,essv9856816,essv9856780,essv9856834,essv9856781,essv9856819,essv9856785,essv9856837,essv9856782,essv9856830,essv9856777,essv9856838,essv9856786,essv9856823,essv9856783,essv9856818,essv9856833,essv9856820,essv9856821,essv9856822,essv9856828,essv9856832 M 2504 0 154 "" HG00120,HG00140,HG00176,HG00188,HG00250,HG00257,HG00321,HG00331,HG00360,HG00406,HG00442,HG00479,HG00524,HG00559,HG00584,HG00596,HG00632,HG00672,HG00692,HG00693,HG00699,HG01105,HG01183,HG01281,HG01312,HG01351,HG01354,HG01377,HG01383,HG01498,HG01515,HG01537,HG01598,HG01599,HG01600,HG01615,HG01624,HG01676,HG01680,HG01766,HG01776,HG01802,HG01815,HG01845,HG01846,HG01858,HG01863,HG01878,HG01950,HG02017,HG02026,HG02031,HG02069,HG02073,HG02087,HG02156,HG02178,HG02221,HG02252,HG02394,HG02409,HG02449,HG02490,HG02661,HG03007,HG03016,HG03238,HG03616,HG03672,HG03693,HG03711,HG03722,HG03730,HG03738,HG03753,HG03757,HG03771,HG03784,HG03792,HG03812,HG03823,HG03837,HG03858,HG03884,HG03894,HG03902,HG03926,HG03950,HG03951,HG03969,HG04006,HG04019,HG04093,HG04094,HG04161,HG04162,HG04177,HG04186,HG04206,HG04219,HG04235,NA07056,NA12044,NA12347,NA12383,NA12413,NA12546,NA12718,NA12874,NA18555,NA18559,NA18567,NA18582,NA18603,NA18611,NA18624,NA18635,NA18946,NA18947,NA18963,NA18965,NA18969,NA18978,NA18981,NA18983,NA18990,NA18995,NA19000,NA19059,NA19066,NA19076,NA19083,NA19084,NA19087,NA19789,NA19923,NA20542,NA20801,NA20828,NA20853,NA20878,NA20887,NA20890,NA21088,NA21093,NA21102,NA21110,NA21111,NA21115,NA21118,NA21122,NA21129,NA21130,NA21144 dgv52n223 1 12842544 12898753 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6327718,nsv6321027,nsv6316111,nsv6319094,nsv6320677 M 19652 5 0 PRAMEF1,PRAMEF11 nsv6326607 1 12843144 12859549 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199343 M 19652 1 0 PRAMEF1 nsv6334225 1 12843344 12849849 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051432 M 19652 0 1 "" nsv6322610 1 12844144 12849537 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199345 M 19652 1 0 "" nsv4459096 1 12844851 12844852 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027197 M 10847 1 0 "" nsv1076314 1 12844999 12849400 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762613 M 1 1 0 "" KWP1 nsv1128587 1 12845000 12855200 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960498 M 2 1 0 PRAMEF1 KWS1 nsv1008195 1 12845851 12867954 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3480488,nssv3697899,nssv3467162,nssv3697900,nssv3477814 M 11257 1 4 PRAMEF1 dgv27n100 1 12845851 12918079 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009423,nsv1012040,nsv1007443,nsv1010457,nsv1004265,nsv1006973,nsv1005285 M 11257 13 111 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 dgv28n100 1 12845851 13015495 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998447,nsv1000098,nsv1003633,nsv1012081 M 11257 12 73 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 dgv29n100 1 12845851 13159071 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008555,nsv1008882,nsv1013855 M 11257 5 8 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 dgv30n100 1 12845851 13471692 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002325,nsv1011638,nsv1002421,nsv1013726,nsv1008901,nsv1002694,nsv1011289,nsv1013772,nsv1010904,nsv998466,nsv1009318,nsv998870,nsv999517,nsv1001817,nsv1004453,nsv1000258 M 11257 0 28 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF13,PRAMEF15,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 dgv31n100 1 12845851 13717812 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006435,nsv999913,nsv1005187 M 11257 3 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv442270 1 12845863 12883096 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1618257,nssv1618235,nssv1618035,nssv1618124,nssv1618157,nssv1618013,nssv1618091,nssv1618024,nssv1618169,nssv1618202,nssv1616614,nssv1618080,nssv1618002,nssv1616636,nssv1617991,nssv1618146,nssv1617980,nssv1617947,nssv1617924,nssv1618069,nssv1617958,nssv1618113,nssv1618246,nssv1616647,nssv1617935,nssv1618135,nssv1618191,nssv1618102,nssv1617969,nssv1618180,nssv1618046,nssv1618058,nssv1618268,nssv1616625,nssv1617913,nssv1618224,nssv1618213 M 270 9 28 PRAMEF1 NA07019,NA07056,NA10838,NA10857,NA12004,NA12044,NA12753,NA12763,NA12815,NA12865,NA12874,NA18529,NA18555,NA18582,NA18593,NA18603,NA18611,NA18621,NA18622,NA18624,NA18635,NA18861,NA18863,NA18947,NA18951,NA18965,NA18969,NA18978,NA18981,NA18990,NA18991,NA18995,NA18997,NA19000,NA19092,NA19094,NA19103 nsv8768 1 12846155 13517588 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv11781,nssv13103,nssv28941,nssv28539,nssv28553,nssv28938,nssv14074,nssv11780,nssv28041,nssv11772,nssv28555,nssv12450,nssv28056,nssv12438,nssv28920,nssv12093,nssv11764,nssv28543,nssv11774,nssv28935,nssv12105,nssv11783,nssv28541,nssv28947,nssv14083,nssv26890,nssv12103,nssv28049,nssv12113,nssv28035,nssv29265,nssv12121,nssv12763,nssv13109,nssv11769,nssv13093,nssv12443,nssv12429,nssv29250,nssv11771,nssv28032,nssv26897,nssv28043,nssv12773,nssv12108,nssv28559,nssv13428,nssv12092,nssv12120,nssv14423,nssv12439,nssv28051,nssv13433,nssv12107,nssv26901,nssv24598,nssv29259,nssv13763,nssv11790,nssv26883,nssv12101,nssv28545,nssv13429,nssv11762,nssv26891,nssv11776,nssv14093,nssv28047,nssv29249,nssv28936,nssv29264,nssv12769,nssv28928,nssv28939,nssv28547,nssv11775,nssv26895,nssv29275,nssv14753,nssv28554,nssv26881,nssv24599,nssv21427,nssv15113,nssv28944,nssv28934,nssv28560,nssv29268,nssv12099,nssv26878,nssv12094,nssv29277,nssv28544,nssv12437,nssv11778,nssv11770,nssv28551,nssv12426,nssv12112,nssv26880,nssv28937,nssv29269,nssv13098,nssv28933,nssv12435,nssv28919,nssv29253,nssv29263,nssv28040,nssv28531,nssv28923,nssv28053,nssv21451,nssv13423,nssv12424,nssv12433,nssv12422,nssv13099,nssv29256,nssv29266,nssv14429,nssv28927,nssv28932,nssv28557,nssv29257,nssv29261,nssv28039,nssv11763,nssv28033,nssv28931,nssv29274,nssv11779,nssv11766,nssv13439,nssv11782,nssv13414,nssv14099,nssv26899,nssv28945,nssv29262,nssv12109,nssv12754,nssv13744,nssv13753,nssv24622,nssv12767,nssv28943,nssv28550,nssv28036,nssv12768,nssv28042,nssv26898,nssv12752,nssv29278,nssv28050,nssv28948,nssv12096,nssv28549,nssv11777,nssv12111,nssv26904,nssv12441,nssv13084,nssv28556,nssv12780,nssv12779,nssv12765,nssv13769,nssv28929,nssv29271,nssv29258,nssv24616,nssv28540,nssv28546,nssv29267,nssv11791 M 31 30 19 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv6328118 1 12846244 12849849 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051433 M 19652 0 1 "" dgv14n67 1 12846734 12920040 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv829030,nsv828808 M 31 2 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 AK2,NA18997 esv32750 1 12846944 13142568 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv97675,essv95999,essv100225,essv92841,essv100986,essv95060,essv101326,essv96257,essv93282,essv92784,essv100556,essv94766,essv95436,essv96187,essv96690,essv99314,essv96818,essv95868,essv98305,essv93105,essv100377,essv97952,essv101177,essv97426,essv97209,essv94614,essv99068,essv96954,essv92594,essv95661,essv94423,essv96441,essv95313,essv98419,essv101537,essv97562,essv99649 M 51 37 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 21603,21616,21618,21659,21693,21721,21772,21791,21805,21808,21817,21837,21841,21847,21863,21872,21879,21911,21932,21938,21939,21944,22007,22011,22075,22127,22170,22217,22233,22261,22275,22278,22286,22298,22300,22352,22371 dgv118n54 1 12846998 12887549 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545459,nsv545455 M 17421 2 0 PRAMEF1,PRAMEF11 nsv545457 1 12846998 12953743 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710035 M 17421 0 1 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 nsv5827848 1 12848775 12850864 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459531,nssv17452779 M 914 0 0 "" dgv53n223 1 12849191 12926017 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6327375,nsv6329448,nsv6334578,nsv6323991 M 19652 0 4 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 nsv4537542 1 12849470 12849471 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027207 M 10847 1 0 "" nsv4535444 1 12849510 12849511 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027217 M 10847 1 0 "" nsv5980973 1 12849565 12849659 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531468 M 405 0 1 "" nsv5605115 1 12849600 12849600 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060366 M 35 1 0 "" NA19238 dgv25n166 1 12849602 12851266 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4046375,nsv4517917 M 10847 0 2 "" nsv6326748 1 12849750 12861748 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051435 M 19652 0 1 PRAMEF1 nsv6320870 1 12849850 12851449 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199347 M 19652 1 0 "" nsv4516539 1 12850000 12889500 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963017 M 10847 1 0 PRAMEF1,PRAMEF11 nsv6139093 1 12850149 13006163 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894374 M 3202 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 dgv54n223 1 12850150 12897353 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6324349,nsv6318772 M 19652 0 2 PRAMEF1,PRAMEF11 nsv6054905 1 12850252 12850252 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534271 M 405 1 0 "" nsv5827642 1 12850252 12855282 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462516,nssv17468491 M 914 0 0 PRAMEF1 nsv6325010 1 12850350 12877562 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199351 M 19652 1 0 PRAMEF1 esv3891192 1 12850542 12922611 CNV gain+loss Suktitipat_et_al_2014 25118596 SNP array essv25787832,essv25796353,essv25798459,essv25797277,essv25787366,essv25779746,essv25790776,essv25791057,essv25789560,essv25781694,essv25796240,essv25791015,essv25801663,essv25787908,essv25789138,essv25797430,essv25790751,essv25780439,essv25790602,essv25787494,essv25790643,essv25786662,essv25789100,essv25799286,essv25786482,essv25781141,essv25800091,essv25791041,essv25787995,essv25792802,essv25798427,essv25800334 M 3017 14 18 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 esv3891748 1 12850542 12961019 CNV gain+loss Suktitipat_et_al_2014 25118596 SNP array essv25796445,essv25798021,essv25788080,essv25788182 M 3017 2 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 dgv6n145 1 12851244 12919995 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nsv3118019,nsv3115632,nsv3113328,nsv3115926,nsv3111593,nsv3117982 M 467 0 20 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 sample111,sample129,sample136,sample158,sample175,sample190,sample197,sample232,sample245,sample25,sample259,sample299,sample32,sample331,sample346,sample402,sample75,sample81,sample97,sample99 dgv7n145 1 12851244 13187927 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nsv3115767,nsv3111923 M 467 0 3 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 sample162,sample368,sample46 nsv6331455 1 12851250 12859449 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051437 M 19652 0 1 PRAMEF1 dgv55n223 1 12851414 12925555 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6331539,nsv6322176,nsv6324466,nsv6316087,nsv6327784 M 19652 5 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 nsv4033517 1 12851500 12890000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847744 M 10847 0 1 PRAMEF1,PRAMEF11 nsv6316633 1 12851750 12854549 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199357 M 19652 1 0 PRAMEF1 nsv4035934 1 12852000 12859000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847755 M 10847 0 1 PRAMEF1 nsv5827752 1 12852008 12859542 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462540,nssv17456240 M 914 0 0 PRAMEF1 nsv5827849 1 12852009 12855282 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468791,nssv17468671 M 914 0 0 PRAMEF1 nsv5980820 1 12852406 12852524 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520195 M 405 0 1 PRAMEF1 nsv1008359 1 12852748 12867825 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477341 M 11257 1 0 PRAMEF1 nsv1004622 1 12852748 12867954 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3697973,nssv3697974 M 11257 0 2 PRAMEF1 dgv119n54 1 12852748 12887549 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545460,nsv545458 M 17421 0 2 PRAMEF1,PRAMEF11 dgv32n100 1 12852748 12892297 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003521,nsv1009315,nsv1014011,nsv1010023,nsv1005421 M 11257 0 19 PRAMEF1,PRAMEF11 nsv1006524 1 12852748 12892297 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481657,nssv3697978,nssv3466020,nssv3464724,nssv3465603,nssv3472344,nssv3471824 M 11257 1 6 PRAMEF1,PRAMEF11 dgv33n100 1 12852748 12915847 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011031,nsv1014357,nsv1000846,nsv1010518,nsv1014153,nsv1014677,nsv1009225,nsv1005021 M 11257 0 32 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 nsv1161105 1 12852872 12909977 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4029064 M 369 0 1 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 dgv120n54 1 12852872 12922611 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545471,nsv545461,nsv545463,nsv545476,nsv545475 M 17421 0 11 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 nsv1075769 1 12853599 12856200 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3772244 M 1 1 0 PRAMEF1 KWP1 dgv15n67 1 12853692 12898164 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv829141,nsv828919 M 31 0 2 PRAMEF1,PRAMEF11 AK6,NA18951 esv2669351 1 12853865 12919353 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5886964,essv5455860 M 1151 0 2 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 NA19087,NA19197 nsv5681419 1 12854723 12854723 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175518 M 3202 1 0 PRAMEF1 nsv5406529 1 12854723 12854774 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683744 M 3202 1 0 PRAMEF1 esv3891525 1 12854842 12866590 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25784285,essv25784405 M 3017 0 2 PRAMEF1 esv3891303 1 12854842 12899109 CNV gain+loss Suktitipat_et_al_2014 25118596 SNP array essv25800612,essv25783416,essv25781234,essv25784759,essv25788571,essv25789118,essv25789505,essv25788805,essv25786075,essv25800866,essv25782822,essv25784694 M 3017 4 8 PRAMEF1,PRAMEF11 nsv545462 1 12854842 12912088 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710040 M 17421 1 0 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11 esv3692868 1 12854842 12922611 CNV loss Palta_et_al_2015 25853576 SNP array essv16508196 M 199 0 1 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 NA19103 esv3891414 1 12854842 13051338 CNV gain+loss Suktitipat_et_al_2014 25118596 SNP array essv25788937,essv25796483,essv25792878,essv25797241,essv25797208,essv25796029,essv25797433 M 3017 2 5 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 esv3585241 1 12854895 12919194 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9856932,essv9856965,essv9856933,essv9856984,essv9856934,essv9856978,essv9856937,essv9856992,essv9856935,essv9856976,essv9856939,essv9856996,essv9856938,essv9856982,essv9856931,essv9856977,essv9856936,essv9856995,essv9857091,essv9857009,essv9856983,essv9857078,essv9857008,essv9856973,essv9857081,essv9856999,essv9856979,essv9857077,essv9857001,essv9856975,essv9857076,essv9857007,essv9856966,essv9857085,essv9857005,essv9856970,essv9857083,essv9857006,essv9856987,essv9857082,essv9857002,essv9856968,essv9857087,essv9857000,essv9856971,essv9857088,essv9857003,essv9856969,essv9857090,essv9857010,essv9856989,essv9857075,essv9857004,essv9856993,essv9857086,essv9856997,essv9857080,essv9856980,essv9857084,essv9856986,essv9857089,essv9856974,essv9857079,essv9856972,essv9856963,essv9856998,essv9856961,essv9856994,essv9856958,essv9856985,essv9856945,essv9856991,essv9856942,essv9856990,essv9856944,essv9856981,essv9856943,essv9856988,essv9856951,essv9856967,essv9856959,essv9857046,essv9856960,essv9857060,essv9856948,essv9857059,essv9856946,essv9857068,essv9856962,essv9857070,essv9856947,essv9857050,essv9856941,essv9857063,essv9856953,essv9857051,essv9856940,essv9857049,essv9856954,essv9857054,essv9856949,essv9857052,essv9856950,essv9857065,essv9856952,essv9857062,essv9856956,essv9857055,essv9856955,essv9857061,essv9856964,essv9857048,essv9856957,essv9857066,essv9857043,essv9857071,essv9857019,essv9857053,essv9857033,essv9857074,essv9857023,essv9857058,essv9857011,essv9857067,essv9857040,essv9857072,essv9857038,essv9857073,essv9857013,essv9857057,essv9857012,essv9857047,essv9857024,essv9857064,essv9857041,essv9857056,essv9857031,essv9857069,essv9857027,essv9857039,essv9857021,essv9857042,essv9857020,essv9857022,essv9857037,essv9857029,essv9857028,essv9857016,essv9857026,essv9857032,essv9857030,essv9857035,essv9857015,essv9857018,essv9857017,essv9857044,essv9857014,essv9857036,essv9857034,essv9857045,essv9857025 M 2504 0 161 HNRNPCL1,LOC649330,PRAMEF1,PRAMEF11,PRAMEF2 HG00120,HG00140,HG00176,HG00188,HG00257,HG00321,HG00360,HG00442,HG00445,HG00479,HG00524,HG00584,HG00596,HG00623,HG00632,HG00672,HG00692,HG00693,HG01105,HG01174,HG01183,HG01281,HG01312,HG01351,HG01354,HG01377,HG01383,HG01498,HG01515,HG01537,HG01571,HG01599,HG01615,HG01624,HG01676,HG01680,HG01766,HG01776,HG01802,HG01806,HG01815,HG01845,HG01863,HG01878,HG01920,HG01948,HG01950,HG01954,HG01968,HG01971,HG02008,HG02017,HG02026,HG02031,HG02087,HG02146,HG02178,HG02221,HG02252,HG02301,HG02315,HG02394,HG02406,HG02425,HG02449,HG02450,HG02461,HG02464,HG02490,HG02588,HG02651,HG02700,HG02716,HG02772,HG03007,HG03016,HG03099,HG03238,HG03241,HG03470,HG03616,HG03693,HG03711,HG03722,HG03730,HG03755,HG03757,HG03784,HG03792,HG03812,HG03823,HG03837,HG03884,HG03894,HG03902,HG03926,HG03950,HG03951,HG04006,HG04019,HG04093,HG04094,HG04161,HG04162,HG04177,HG04206,HG04219,HG04235,NA07056,NA11920,NA12044,NA12347,NA12383,NA12413,NA12546,NA12718,NA12763,NA12874,NA18555,NA18559,NA18567,NA18593,NA18603,NA18611,NA18624,NA18941,NA18946,NA18963,NA18965,NA18969,NA18981,NA18983,NA18990,NA18991,NA19000,NA19059,NA19066,NA19076,NA19079,NA19083,NA19084,NA19087,NA19331,NA19334,NA19436,NA19789,NA20542,NA20585,NA20828,NA20853,NA20878,NA20887,NA20890,NA21088,NA21093,NA21102,NA21110,NA21111,NA21115,NA21118,NA21144 nsv6335497 1 12856050 12865336 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199958 M 19652 1 0 PRAMEF1 nsv5827960 1 12856074 12859542 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463635,nssv17459626 M 914 0 0 PRAMEF1 nsv6327505 1 12856150 12865236 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051442 M 19652 0 1 PRAMEF1 esv3585242 1 12856327 12893193 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9857204,essv9857245,essv9857212,essv9857249,essv9857206,essv9857214,essv9857210,essv9857224,essv9857211,essv9857223,essv9857194,essv9857215,essv9857197,essv9857254,essv9857196,essv9857227,essv9857195,essv9857241,essv9857202,essv9857219,essv9857193,essv9857240,essv9857199,essv9857225,essv9857191,essv9857234,essv9857203,essv9857242,essv9857209,essv9857232,essv9857192,essv9857253,essv9857188,essv9857244,essv9857208,essv9857237,essv9857198,essv9857248,essv9857207,essv9857229,essv9857200,essv9857251,essv9857205,essv9857213,essv9857190,essv9857238,essv9857201,essv9857216,essv9857189,essv9857228,essv9857282,essv9857102,essv9857250,essv9857294,essv9857093,essv9857233,essv9857261,essv9857101,essv9857243,essv9857286,essv9857094,essv9857236,essv9857279,essv9857095,essv9857226,essv9857268,essv9857100,essv9857246,essv9857292,essv9857099,essv9857235,essv9857264,essv9857096,essv9857221,essv9857287,essv9857097,essv9857230,essv9857289,essv9857103,essv9857239,essv9857270,essv9857092,essv9857255,essv9857263,essv9857098,essv9857217,essv9857284,essv9857222,essv9857285,essv9857256,essv9857265,essv9857220,essv9857280,essv9857252,essv9857266,essv9857218,essv9857259,essv9857247,essv9857271,essv9857231,essv9857288,essv9857104,essv9857295,essv9857108,essv9857267,essv9857136,essv9857290,essv9857113,essv9857272,essv9857110,essv9857262,essv9857132,essv9857276,essv9857120,essv9857278,essv9857114,essv9857293,essv9857119,essv9857269,essv9857123,essv9857260,essv9857109,essv9857257,essv9857105,essv9857258,essv9857137,essv9857283,essv9857116,essv9857274,essv9857112,essv9857275,essv9857117,essv9857291,essv9857133,essv9857273,essv9857131,essv9857281,essv9857130,essv9857277,essv9857107,essv9857308,essv9857127,essv9857313,essv9857129,essv9857296,essv9857122,essv9857304,essv9857118,essv9857309,essv9857106,essv9857319,essv9857121,essv9857298,essv9857135,essv9857302,essv9857138,essv9857323,essv9857125,essv9857320,essv9857134,essv9857322,essv9857124,essv9857312,essv9857115,essv9857305,essv9857111,essv9857310,essv9857126,essv9857314,essv9857139,essv9857307,essv9857128,essv9857318,essv9857157,essv9857300,essv9857184,essv9857311,essv9857156,essv9857297,essv9857148,essv9857301,essv9857169,essv9857316,essv9857164,essv9857306,essv9857149,essv9857321,essv9857151,essv9857315,essv9857168,essv9857299,essv9857145,essv9857317,essv9857146,essv9857303,essv9857177,essv9857181,essv9857161,essv9857159,essv9857140,essv9857147,essv9857173,essv9857170,essv9857180,essv9857144,essv9857174,essv9857153,essv9857155,essv9857182,essv9857171,essv9857141,essv9857165,essv9857143,essv9857162,essv9857150,essv9857172,essv9857142,essv9857154,essv9857186,essv9857167,essv9857166,essv9857163,essv9857160,essv9857152,essv9857179,essv9857158,essv9857185,essv9857183,essv9857176,essv9857178,essv9857175,essv9857187 M 2504 0 232 PRAMEF1,PRAMEF11 HG00120,HG00140,HG00176,HG00188,HG00250,HG00257,HG00321,HG00331,HG00360,HG00406,HG00442,HG00445,HG00479,HG00524,HG00543,HG00559,HG00580,HG00584,HG00596,HG00632,HG00672,HG00684,HG00692,HG00693,HG00699,HG00982,HG01105,HG01174,HG01183,HG01281,HG01312,HG01351,HG01354,HG01377,HG01383,HG01440,HG01443,HG01498,HG01515,HG01537,HG01551,HG01571,HG01596,HG01598,HG01599,HG01600,HG01615,HG01624,HG01676,HG01680,HG01766,HG01776,HG01802,HG01806,HG01815,HG01842,HG01845,HG01846,HG01847,HG01855,HG01858,HG01859,HG01863,HG01868,HG01878,HG01920,HG01948,HG01950,HG01954,HG01968,HG01971,HG02008,HG02017,HG02026,HG02031,HG02069,HG02072,HG02073,HG02087,HG02116,HG02136,HG02146,HG02156,HG02178,HG02221,HG02252,HG02301,HG02315,HG02360,HG02394,HG02406,HG02409,HG02449,HG02450,HG02461,HG02464,HG02490,HG02549,HG02588,HG02651,HG02661,HG02666,HG02700,HG02716,HG02772,HG02855,HG02981,HG03007,HG03016,HG03055,HG03060,HG03099,HG03121,HG03235,HG03238,HG03241,HG03294,HG03376,HG03380,HG03452,HG03470,HG03538,HG03548,HG03616,HG03672,HG03693,HG03711,HG03722,HG03730,HG03738,HG03753,HG03755,HG03757,HG03771,HG03784,HG03792,HG03812,HG03823,HG03837,HG03856,HG03858,HG03884,HG03894,HG03902,HG03926,HG03950,HG03951,HG03969,HG04006,HG04019,HG04093,HG04094,HG04161,HG04162,HG04177,HG04206,HG04219,HG04235,NA07056,NA11920,NA12044,NA12347,NA12383,NA12413,NA12546,NA12718,NA12763,NA12874,NA18555,NA18559,NA18567,NA18582,NA18591,NA18603,NA18606,NA18611,NA18614,NA18621,NA18624,NA18635,NA18645,NA18941,NA18946,NA18947,NA18951,NA18963,NA18965,NA18969,NA18978,NA18981,NA18983,NA18990,NA18991,NA18995,NA19000,NA19059,NA19066,NA19076,NA19079,NA19083,NA19084,NA19087,NA19331,NA19334,NA19681,NA19747,NA19770,NA19786,NA19789,NA19923,NA20274,NA20542,NA20585,NA20801,NA20810,NA20828,NA20852,NA20853,NA20878,NA20887,NA20890,NA21088,NA21093,NA21102,NA21110,NA21111,NA21115,NA21118,NA21122,NA21129,NA21130,NA21144 esv3585243 1 12856327 12893193 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9857390,essv9857340,essv9857387,essv9857345,essv9857391,essv9857341,essv9857388,essv9857343,essv9857389,essv9857337,essv9857324,essv9857356,essv9857339,essv9857325,essv9857355,essv9857338,essv9857353,essv9857344,essv9857351,essv9857348,essv9857354,essv9857342,essv9857358,essv9857346,essv9857360,essv9857347,essv9857363,essv9857330,essv9857352,essv9857336,essv9857362,essv9857331,essv9857357,essv9857326,essv9857361,essv9857332,essv9857349,essv9857333,essv9857359,essv9857329,essv9857350,essv9857334,essv9857374,essv9857328,essv9857369,essv9857327,essv9857372,essv9857335,essv9857366,essv9857381,essv9857370,essv9857377,essv9857368,essv9857384,essv9857364,essv9857383,essv9857373,essv9857380,essv9857371,essv9857378,essv9857365,essv9857376,essv9857367,essv9857382,essv9857385,essv9857386,essv9857375,essv9857379 M 2504 68 0 PRAMEF1,PRAMEF11 HG00102,HG00250,HG00610,HG00613,HG00657,HG00739,HG01064,HG01303,HG01396,HG01402,HG01438,HG01485,HG01492,HG01852,HG01861,HG01890,HG01917,HG02095,HG02108,HG02144,HG02180,HG02190,HG02271,HG02389,HG02391,HG02494,HG02558,HG02580,HG02594,HG02642,HG02727,HG02804,HG03049,HG03091,HG03133,HG03190,HG03209,HG03369,HG03388,HG03472,HG03521,HG03631,HG03645,HG03800,HG03802,HG03866,HG03928,HG03978,NA10847,NA11918,NA12414,NA12815,NA18525,NA18617,NA18622,NA18861,NA18923,NA18924,NA18997,NA19042,NA19043,NA19092,NA19236,NA19390,NA19393,NA19914,NA20818,NA21119 nsv1001422 1 12857863 12867954 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466853 M 11257 1 0 "" esv3584476 1 12857863 12892309 CNV gain Mokhtar_et_al_2014 24956385 SNP array essv9838580 M 34 1 0 PRAMEF11 OA020 nsv6326291 1 12857870 12858138 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199959 M 19652 1 0 "" nsv5981038 1 12857964 12858768 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529687 M 405 0 1 "" nsv5827961 1 12859093 12870266 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454317,nssv17460774 M 914 0 0 "" nsv6328231 1 12859350 12865836 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199960 M 19652 1 0 "" nsv6334023 1 12859390 12990657 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051443 M 19652 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8 nsv4458915 1 12859764 12859765 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026223 M 10847 1 0 "" nsv6046589 1 12859814 12859814 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533699 M 405 1 0 "" nsv5688403 1 12859823 12859823 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175558,nssv17205644 M 3202 2 0 "" nsv5405525 1 12859823 12859853 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894375 M 3202 1 0 "" nsv6320783 1 12860650 12862936 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051445 M 19652 0 1 "" nsv5827753 1 12860742 12863018 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461382,nssv17465862 M 914 0 0 "" nsv438192 1 12860749 12868237 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv468629,nssv468518 M 269 0 2 "" NA19101,NA19103 dgv121n54 1 12860749 12871327 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545464,nsv545474 M 17421 0 3 "" dgv122n54 1 12860749 12880356 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545466,nsv545465 M 17421 0 6 "" HGDP00702,HGDP00999,HGDP01254,HGDP01269 dgv7n27 1 12860749 12880356 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv467171,nsv467394,nsv467283,nsv467505 M 1557 0 4 "" HGDP00702,HGDP00999,HGDP01254,HGDP01269 nsv545467 1 12860749 12883131 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710047,nssv710048,nssv710049 M 17421 2 1 "" nsv470696 1 12860749 12913895 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547706,nssv547708,nssv547707,nssv547705,nssv547704 M 443 5 0 HNRNPCL1,LOC649330,PRAMEF11 HGDP00072,HGDP00560,HGDP00572,HGDP00714,HGDP01317 dgv123n54 1 12860749 12913896 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545469,nsv545470,nsv545480,nsv545485 M 17421 37 63 HNRNPCL1,LOC649330,PRAMEF11 1780846321_A,1780854128_A,1780854216_A,1780854260_A,1780854261_A,1780854362_A,1780862085_A,1780862294_A,1782681216_A,1798860565_A,HGDP00021,HGDP00072,HGDP00262,HGDP00364,HGDP00560,HGDP00572,HGDP00694,HGDP00707,HGDP00714,HGDP00751,HGDP00856,HGDP00869,HGDP00945,HGDP00950,HGDP01103,HGDP01251,HGDP01306,HGDP01317,HGDP01352,HGDP01372,HGDP01399,HGDP01400,NINDS_109,NINDS_117,NINDS_134,NINDS_182,NINDS_198,NINDS_208,NINDS_219,NINDS_240,NINDS_253,NINDS_258,NINDS_266,NINDS_27,NINDS_50,NINDS_70,NINDS_83,NINDS_90 dgv8n27 1 12860749 12913896 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460295,nsv468838,nsv457662,nsv467616,nsv460339,nsv460306,nsv460117,nsv459551,nsv455774,nsv460195,nsv460073,nsv460150,nsv468616,nsv455996,nsv469171,nsv458773,nsv456551,nsv468505,nsv460173,nsv460250,nsv459107,nsv468727,nsv456996,nsv460050,nsv458440,nsv460095,nsv460006,nsv458884,nsv460206,nsv460028,nsv460239,nsv457996,nsv460017,nsv460261,nsv458107,nsv458329,nsv458662,nsv460284,nsv469393,nsv460161,nsv457551,nsv457218,nsv460139,nsv455885,nsv460328,nsv460062,nsv456885,nsv460228,nsv459440,nsv456107,nsv457440,nsv456329,nsv457329,nsv456440,nsv457773,nsv459662,nsv467727,nsv460039,nsv460184,nsv460128,nsv460317,nsv456662,nsv458996,nsv458551,nsv459329,nsv456218,nsv459218,nsv460217,nsv460084,nsv456774,nsv457885 M 1557 0 71 HNRNPCL1,LOC649330,PRAMEF11 1780854095_A,1780854216_A,1780854341_A,1780854357_A,1780854384_A,1780862015_A,1780862229_A,1780862250_A,1780862263_A,1780862346_A,1780862390_A,1780862574_A,1782681236_A,1782681287_A,1787431167_A,1798860277_A,HGDP00106,HGDP00169,HGDP00251,HGDP00267,HGDP00279,HGDP00285,HGDP00351,HGDP00364,HGDP00423,HGDP00694,HGDP00732,HGDP00748,HGDP00751,HGDP00780,HGDP00781,HGDP00791,HGDP00813,HGDP00856,HGDP00869,HGDP00896,HGDP00945,HGDP00950,HGDP00964,HGDP01003,HGDP01010,HGDP01191,HGDP01296,HGDP01306,HGDP01321,HGDP01330,HGDP01338,HGDP01352,HGDP01360,HGDP01361,HGDP01363,HGDP01368,HGDP01369,HGDP01372,HGDP01375,HGDP01400,NINDS_109,NINDS_117,NINDS_134,NINDS_182,NINDS_198,NINDS_219,NINDS_240,NINDS_253,NINDS_258,NINDS_266,NINDS_27,NINDS_50,NINDS_70,NINDS_83,NINDS_90 dgv9n27 1 12860749 12913896 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv458218,nsv459984,nsv459973,nsv459995,nsv468060,nsv459951,nsv459884,nsv468949,nsv469060,nsv459962,nsv460106,nsv467949,nsv459939,nsv468394,nsv467838,nsv455663,nsv469282,nsv468282,nsv468171,nsv460272,nsv459773,nsv457107 M 1557 22 0 HNRNPCL1,LOC649330,PRAMEF11 1780846321_A,1780854128_A,1780854260_A,1780854261_A,1780854362_A,1780862085_A,1780862294_A,1780862487_A,1782681216_A,1798860565_A,HGDP00021,HGDP00072,HGDP00262,HGDP00560,HGDP00572,HGDP00714,HGDP01033,HGDP01103,HGDP01251,HGDP01317,HGDP01399,NINDS_208 nsv817728 1 12860749 12913896 CNV gain+loss Wang_et_al_2007 17921354 SNP array nssv1417408,nssv1418338,nssv1417095,nssv1418244,nssv1418245,nssv1418336 M 112 4 2 HNRNPCL1,LOC649330,PRAMEF11 NA10847,NA12239,NA18529,NA18951,NA19092,NA19094 dgv124n54 1 12860749 12922611 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545468,nsv545481,nsv545479,nsv545478,nsv545483,nsv545497,nsv545496,nsv545495,nsv545484,nsv545487,nsv545494,nsv545491,nsv545488,nsv545493,nsv545492 M 17421 0 27 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 1780854357_A,1787431167_A,HGDP00169,HGDP00423,HGDP00709,HGDP00732,HGDP00791,HGDP01003,HGDP01010,HGDP01016,HGDP01296,HGDP01338,HGDP01368 dgv125n54 1 12860749 13051338 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545472,nsv545473 M 17421 0 2 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv6332072 1 12861849 12865536 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199961 M 19652 1 0 "" nsv5565762 1 12861915 12861964 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060367 M 35 0 1 "" HG03486 nsv1002419 1 12862229 12918079 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481472 M 11257 1 0 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 nsv999194 1 12862319 13015495 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479949 M 11257 1 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv5827754 1 12863019 12868663 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467839,nssv17462091 M 914 0 0 "" nsv5827850 1 12863519 12865219 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456091,nssv17453680 M 914 0 0 "" nsv5827851 1 12865220 12870916 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451503,nssv17465872 M 914 0 0 "" nsv6331723 1 12865237 12865936 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199962 M 19652 1 0 "" nsv6327141 1 12865637 12872941 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051446 M 19652 0 1 "" dgv126n54 1 12865920 12880356 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545482,nsv545477 M 17421 0 2 "" dgv1n64 1 12865920 12913896 CNV loss Wang_et_al_2007 17921354 SNP array nsv817839,nsv817950,nsv818045 M 112 0 6 HNRNPCL1,LOC649330,PRAMEF11 NA10857,NA12044,NA12865,NA12874,NA18593,NA18965 esv3891859 1 12865920 13379877 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25788920 M 3017 1 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 nsv4034297 1 12866250 12871900 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963018 M 10847 1 0 "" nsv6317015 1 12866437 12871139 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199963 M 19652 1 0 "" nsv6323677 1 12866637 12904353 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199964 M 19652 1 0 PRAMEF11 nsv6316909 1 12866837 12873242 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199965 M 19652 1 0 "" nsv545486 1 12867068 12887549 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710118 M 17421 0 1 PRAMEF11 nsv1010920 1 12867078 12918079 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3698764,nssv3476760,nssv3698765,nssv3481473,nssv3698766,nssv3481731,nssv3465681,nssv3476599,nssv3465684,nssv3479801,nssv3468483,nssv3463893 M 11257 2 10 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 nsv829252 1 12867134 12867736 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1440800 M 31 0 1 "" NA18969 nsv5425888 1 12868319 12868375 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894377 M 3202 1 0 "" esv2743842 1 12868753 12869065 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6972333 M 96 0 1 "" SSM029 nsv5980821 1 12868819 12868945 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525996 M 405 0 1 "" nsv4044659 1 12869624 12870052 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846861 M 10847 0 1 "" nsv6315837 1 12869640 12869939 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051447 M 19652 0 1 "" dgv56n223 1 12869740 12896653 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6328046,nsv6334265,nsv6322786 M 19652 0 3 PRAMEF11 nsv2965 1 12870541 13185906 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3620,nssv10340,nssv5045,nssv9308 M 9 0 4 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12878,NA18517,NA18956,NA19129 nsv829363 1 12870940 12872971 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1440801 M 31 0 1 "" NA18969 nsv5827852 1 12870967 12876195 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463455,nssv17451765 M 914 0 0 "" nsv5827643 1 12870968 12872468 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457178,nssv17452909 M 914 0 0 "" nsv545489 1 12871327 12880356 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710121,nssv710120 M 17421 0 2 "" nsv545490 1 12871327 12899734 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710122 M 17421 0 1 PRAMEF11 esv2743853 1 12871334 12993311 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6784532,essv6863951,essv6675195,essv6668942,essv6807370,essv6843798,essv6669166,essv6747772,essv6742134,essv6917420,essv6950547,essv6847008,essv6793278,essv6764156,essv6910037 M 96 0 15 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8 SSM005,SSM009,SSM011,SSM015,SSM017,SSM025,SSM031,SSM032,SSM053,SSM056,SSM063,SSM071,SSM075,SSM086,SSM089 nsv4044332 1 12871368 12871437 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846872 M 10847 0 1 "" dgv57n223 1 12871701 12888260 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6319535,nsv6332102,nsv6327312,nsv6326793 M 19652 4 0 PRAMEF11 nsv6041929 1 12872285 12872285 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529266 M 405 1 0 "" nsv6326763 1 12872636 12873414 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051450 M 19652 0 1 "" dgv58n223 1 12872942 12876217 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6333592,nsv6322477 M 19652 2 0 "" dgv59n223 1 12872942 12879462 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6323833,nsv6328415 M 19652 2 0 "" dgv60n223 1 12872942 12981420 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6315900,nsv6332180,nsv6325237 M 19652 3 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8 nsv5827644 1 12873120 12876095 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451358,nssv17467530 M 914 0 0 "" nsv6321328 1 12874143 12876142 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199975 M 19652 1 0 "" nsv6317088 1 12875243 12947024 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199976 M 19652 1 0 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2,PRAMEF4 dgv127n54 1 12875424 12919067 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545498,nsv545499,nsv545500,nsv545501,nsv545502 M 17421 0 13 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 HGDP00662 dgv61n223 1 12876043 12898453 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6326220,nsv6327384,nsv6330933 M 19652 3 0 PRAMEF11 nsv3943905 1 12876216 12876216 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189592 M 1 1 0 "" HG002 dgv62n223 1 12876218 12895051 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6319690,nsv6324801 M 19652 0 2 PRAMEF11 nsv4755265 1 12876219 12876219 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16296472 M 25 1 0 "" esv1063166 1 12876225 12876225 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4300681 M 2 1 0 "" HuRef nsv6330934 1 12876263 12878762 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199979 M 19652 1 0 "" dgv4n97 1 12877057 12983506 CNV deletion Lou_et_al_2014 25026903 SNP array nsv1156083,nsv1156134 M 131 0 3 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8 dgv20n209 1 12877582 12886807 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5827645,nsv5827853 M 914 0 0 PRAMEF11 nsv4047772 1 12877850 12933342 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846880 M 10847 0 1 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 dgv6e214 1 12877893 12948772 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585244,esv3585245 M 2504 0 237 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2,PRAMEF4 HG00100,HG00120,HG00126,HG00140,HG00176,HG00185,HG00244,HG00257,HG00278,HG00304,HG00358,HG00442,HG00445,HG00479,HG00584,HG01048,HG01055,HG01101,HG01102,HG01111,HG01113,HG01124,HG01131,HG01142,HG01162,HG01177,HG01183,HG01200,HG01251,HG01280,HG01305,HG01308,HG01312,HG01323,HG01326,HG01342,HG01344,HG01350,HG01354,HG01369,HG01372,HG01377,HG01412,HG01462,HG01498,HG01506,HG01537,HG01565,HG01572,HG01578,HG01599,HG01624,HG01628,HG01676,HG01682,HG01802,HG01845,HG01863,HG01878,HG01892,HG01893,HG01921,HG01923,HG01924,HG01927,HG01932,HG01933,HG01936,HG01938,HG01939,HG01942,HG01944,HG01947,HG01950,HG01953,HG01961,HG01967,HG01968,HG01971,HG01974,HG01979,HG01980,HG01988,HG01989,HG01990,HG01997,HG02002,HG02026,HG02147,HG02150,HG02252,HG02259,HG02266,HG02271,HG02272,HG02277,HG02282,HG02285,HG02286,HG02298,HG02299,HG02301,HG02304,HG02323,HG02345,HG02406,HG02449,HG02464,HG02490,HG02501,HG02549,HG02588,HG02666,HG02700,HG02715,HG02731,HG02840,HG02854,HG02968,HG02981,HG03007,HG03028,HG03040,HG03046,HG03060,HG03086,HG03135,HG03238,HG03241,HG03267,HG03298,HG03342,HG03401,HG03452,HG03538,HG03616,HG03693,HG03711,HG03722,HG03730,HG03755,HG03757,HG03784,HG03812,HG03815,HG03823,HG03837,HG03856,HG03888,HG03902,HG03926,HG03950,HG03951,HG04006,HG04019,HG04093,HG04161,HG04177,HG04206,HG04235,NA06994,NA10851,NA12044,NA12286,NA12383,NA12400,NA12413,NA12489,NA12546,NA12717,NA12873,NA12874,NA18501,NA18559,NA18567,NA18593,NA18611,NA18613,NA18614,NA18963,NA18965,NA18969,NA18981,NA18983,NA18990,NA18991,NA19017,NA19023,NA19024,NA19031,NA19038,NA19066,NA19083,NA19087,NA19114,NA19222,NA19331,NA19334,NA19428,NA19431,NA19437,NA19443,NA19475,NA19652,NA19661,NA19663,NA19700,NA19726,NA19732,NA19734,NA19735,NA19740,NA19741,NA19746,NA19747,NA19755,NA19762,NA19771,NA19786,NA19789,NA20314,NA20320,NA20351,NA20585,NA20589,NA20814,NA20828,NA20859,NA20887,NA20890,NA21102,NA21110,NA21114,NA21118,NA21123,NA21127,NA21144 nsv6323749 1 12877922 12944078 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051454 M 19652 0 1 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2,PRAMEF4 nsv6335511 1 12878663 12904253 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199983 M 19652 1 0 PRAMEF11 nsv5886745 1 12878904 12933441 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361390 M 914 0 1 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 nsv7172 1 12879694 13377142 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7060,nssv6080,nssv382,nssv5213,nssv9625,nssv3714,nssv2496,nssv10379,nssv11168,nssv5133,nssv7150,nssv9329,nssv5286,nssv10403,nssv9624,nssv11101 M 9 0 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv460350 1 12880153 12913896 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv536942 M 1557 0 1 HNRNPCL1,LOC649330,PRAMEF11 HGDP00662 dgv128n54 1 12880153 13125738 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545505,nsv545503 M 17421 0 2 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 nsv433182 1 12880356 12961027 CNV loss Cooper_et_al_2008 18776910 SNP array nssv463063 M 9 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4 NA15510 nsv6331847 1 12880563 12882563 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199984 M 19652 1 0 "" nsv5426209 1 12880701 12918478 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894036 M 3202 1 0 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 nsv4036060 1 12881671 13049979 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846887 M 10847 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv1156094 1 12882985 12909977 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4017919 M 131 0 1 HNRNPCL1,LOC649330,PRAMEF11 nsv1161161 1 12882985 12924596 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4029398 M 369 0 1 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 nsv1161165 1 12882985 12983506 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4029506 M 369 1 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8 dgv5n97 1 12883096 12983506 CNV duplication Lou_et_al_2014 25026903 SNP array nsv1156208,nsv1156135 M 131 3 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF7,PRAMEF8 nsv6335024 1 12883364 12895051 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051456 M 19652 0 1 PRAMEF11 dgv63n223 1 12886960 12936821 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6319387,nsv6325639,nsv6320734,nsv6331849,nsv6326948,nsv6328802,nsv6321329,nsv6319674,nsv6332309 M 19652 9 0 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 dgv64n223 1 12887260 12895251 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6317473,nsv6328034 M 19652 0 2 PRAMEF11 dgv65n223 1 12887460 12894153 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6327710,nsv6330734 M 19652 2 0 PRAMEF11 nsv1075770 1 12887499 12928900 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3770993 M 1 1 0 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2 KWP1 nsv955255 1 12888301 12894700 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3001834 M 1 1 0 PRAMEF11 BILGI_BIOE nsv1139469 1 12888600 12891300 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977056 M 2 1 0 PRAMEF11 KWS2 nsv5827646 1 12888924 12893572 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459799,nssv17453976 M 914 0 0 PRAMEF11 nsv5617483 1 12889587 12889587 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060369 M 35 1 0 PRAMEF11 HG03065 nsv6054142 1 12889587 12889587 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525807 M 405 1 0 PRAMEF11 esv3428728 1 12890165 12892963 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691774 M 185 1 0 PRAMEF11 NA12878 dgv6e201 1 12890623 12948407 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2743864,esv2743897 M 96 0 14 HNRNPCL1,LOC649330,PRAMEF11,PRAMEF2,PRAMEF4 SSM005,SSM009,SSM011,SSM015,SSM017,SSM025,SSM031,SSM032,SSM053,SSM063,SSM071,SSM075,SSM086,SSM089 dgv129n54 1 12890761 13014883 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545516,nsv545504,nsv545508,nsv545526,nsv545517 M 17421 0 6 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF11,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv1122299 1 12892048 12892115 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969750 M 2 0 1 "" KWS2 nsv6327605 1 12892055 12897353 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051459 M 19652 0 1 "" esv2743875 1 12892084 12909500 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863951,essv6668942,essv6843798,essv6917420,essv6669166,essv6807370,essv6793278,essv6910037,essv6847008 M 96 0 9 HNRNPCL1,LOC649330 SSM005,SSM011,SSM015,SSM017,SSM031,SSM071,SSM075,SSM086,SSM089 nsv1156175 1 12892508 12927856 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4019082,nssv4019071 M 131 0 2 HNRNPCL1,LOC649330,PRAMEF2 nsv4390858 1 12892890 12893289 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15703959 M 174 0 1 "" nsv820528 1 12893066 13047331 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1419881 M 1 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA10851 nsv436469 1 12893250 12948757 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466583 M 2 0 1 HNRNPCL1,LOC649330,PRAMEF2,PRAMEF4 NA18505 dgv7e201 1 12893638 13187357 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2743953,esv2743931,esv2743886 M 96 0 14 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 SSM005,SSM006,SSM011,SSM015,SSM017,SSM029,SSM031,SSM032,SSM053,SSM063,SSM075,SSM086,SSM088,SSM089 dgv66n223 1 12893643 12962031 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6316452,nsv6322360,nsv6321022,nsv6334057 M 19652 4 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF4 dgv67n223 1 12894352 12906953 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6320766,nsv6320374 M 19652 2 0 "" dgv130n54 1 12894519 12923962 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545507,nsv545506 M 17421 0 3 HNRNPCL1,LOC649330,PRAMEF2 dgv68n223 1 12894652 12931421 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6333127,nsv6326594,nsv6332236,nsv6332160,nsv6322099 M 19652 5 0 HNRNPCL1,LOC649330,PRAMEF2 dgv69n223 1 12894752 12898453 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6334736,nsv6322459 M 19652 2 0 "" esv3338113 1 12894752 13183347 OTHER inversion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808895 M 185 0 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 NA12878 nsv4517091 1 12895000 12940000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963019 M 10847 1 0 HNRNPCL1,LOC649330,PRAMEF2,PRAMEF4 dgv70n223 1 12895052 12920655 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6324729,nsv6323013,nsv6323001 M 19652 3 0 HNRNPCL1,LOC649330,PRAMEF2 nsv6322253 1 12895252 12900153 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200000 M 19652 1 0 "" dgv21n209 1 12895494 12900070 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5827755,nsv5827647 M 914 0 0 "" nsv6322242 1 12895752 12896653 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051460 M 19652 0 1 "" nsv5430727 1 12896143 12942111 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894038 M 3202 1 0 HNRNPCL1,LOC649330,PRAMEF2,PRAMEF4 nsv4517266 1 12896425 12930275 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846896 M 10847 0 1 HNRNPCL1,LOC649330,PRAMEF2 esv3585246 1 12896438 12928826 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9857920,essv9857991,essv9857935,essv9857985,essv9857936,essv9857993,essv9857917,essv9857963,essv9857910,essv9857982,essv9857926,essv9857996,essv9857929,essv9857967,essv9857912,essv9857986,essv9857919,essv9857968,essv9857913,essv9857998,essv9857932,essv9857994,essv9857921,essv9857987,essv9857930,essv9857988,essv9857911,essv9857981,essv9857925,essv9857965,essv9857906,essv9857966,essv9857923,essv9857995,essv9857914,essv9857980,essv9857916,essv9857977,essv9857933,essv9857989,essv9857915,essv9857964,essv9857938,essv9857979,essv9857924,essv9857990,essv9857934,essv9857973,essv9857907,essv9857992,essv9857931,essv9857969,essv9857909,essv9857970,essv9857937,essv9857975,essv9857928,essv9857974,essv9857918,essv9857976,essv9857927,essv9857972,essv9857908,essv9857983,essv9857922,essv9857997,essv9857788,essv9857900,essv9857984,essv9857795,essv9857890,essv9857962,essv9857789,essv9857892,essv9857978,essv9857790,essv9857903,essv9857971,essv9857786,essv9857904,essv9857791,essv9857897,essv9857792,essv9857902,essv9857797,essv9857905,essv9857793,essv9857893,essv9857794,essv9857894,essv9857787,essv9857895,essv9857796,essv9857898,essv9857819,essv9857896,essv9857822,essv9857891,essv9857806,essv9857889,essv9857799,essv9857901,essv9857830,essv9857899,essv9857811,essv9857951,essv9857831,essv9857961,essv9857824,essv9857960,essv9857802,essv9857958,essv9857810,essv9857959,essv9857829,essv9857952,essv9857834,essv9857949,essv9857807,essv9857947,essv9857817,essv9857955,essv9857816,essv9857957,essv9857818,essv9857945,essv9857821,essv9857943,essv9857835,essv9857941,essv9857833,essv9857953,essv9857808,essv9857946,essv9857813,essv9857940,essv9857809,essv9857942,essv9857828,essv9857939,essv9857804,essv9857948,essv9857812,essv9857956,essv9857826,essv9857944,essv9857814,essv9857954,essv9857805,essv9857950,essv9857827,essv9857866,essv9857801,essv9857870,essv9857820,essv9857857,essv9857798,essv9857849,essv9857825,essv9857842,essv9857800,essv9857858,essv9857832,essv9857883,essv9857803,essv9857836,essv9857823,essv9857863,essv9857815,essv9857844,essv9857848,essv9857869,essv9857874,essv9857837,essv9857856,essv9857846,essv9857877,essv9857878,essv9857850,essv9857884,essv9857888,essv9857839,essv9857872,essv9857853,essv9857868,essv9857851,essv9857871,essv9857879,essv9857843,essv9857852,essv9857880,essv9857862,essv9857875,essv9857845,essv9857860,essv9857847,essv9857886,essv9857867,essv9857882,essv9857881,essv9857855,essv9857873,essv9857885,essv9857838,essv9857876,essv9857864,essv9857887,essv9857865,essv9857854,essv9857861,essv9857841,essv9857859,essv9857840 M 2504 0 213 HNRNPCL1,LOC649330,PRAMEF2 HG00100,HG00126,HG00140,HG00176,HG00185,HG00244,HG00257,HG00278,HG00304,HG00358,HG00442,HG00445,HG00479,HG00584,HG01048,HG01055,HG01101,HG01102,HG01111,HG01113,HG01124,HG01131,HG01142,HG01162,HG01177,HG01183,HG01251,HG01280,HG01305,HG01308,HG01312,HG01323,HG01326,HG01342,HG01344,HG01350,HG01354,HG01369,HG01372,HG01412,HG01462,HG01498,HG01506,HG01537,HG01565,HG01572,HG01578,HG01599,HG01624,HG01628,HG01676,HG01682,HG01802,HG01845,HG01863,HG01878,HG01892,HG01893,HG01921,HG01923,HG01924,HG01927,HG01932,HG01933,HG01936,HG01938,HG01939,HG01942,HG01944,HG01947,HG01950,HG01953,HG01961,HG01967,HG01968,HG01971,HG01974,HG01979,HG01980,HG01988,HG01989,HG01990,HG01997,HG02002,HG02026,HG02147,HG02150,HG02252,HG02259,HG02266,HG02271,HG02272,HG02277,HG02282,HG02285,HG02286,HG02298,HG02299,HG02301,HG02304,HG02345,HG02406,HG02464,HG02490,HG02501,HG02666,HG02715,HG02731,HG02854,HG02968,HG03007,HG03028,HG03040,HG03086,HG03135,HG03238,HG03241,HG03267,HG03298,HG03342,HG03538,HG03616,HG03693,HG03711,HG03722,HG03730,HG03755,HG03757,HG03784,HG03812,HG03815,HG03823,HG03856,HG03888,HG03902,HG03950,HG03951,HG04006,HG04019,HG04093,HG04161,HG04177,HG04206,HG04235,NA06994,NA10851,NA12044,NA12286,NA12383,NA12400,NA12413,NA12489,NA12546,NA12717,NA12873,NA12874,NA18559,NA18567,NA18593,NA18611,NA18613,NA18614,NA18963,NA18965,NA18981,NA18983,NA18991,NA19017,NA19023,NA19024,NA19031,NA19038,NA19066,NA19087,NA19331,NA19334,NA19428,NA19431,NA19437,NA19443,NA19475,NA19652,NA19661,NA19663,NA19700,NA19726,NA19732,NA19734,NA19735,NA19740,NA19741,NA19746,NA19747,NA19755,NA19762,NA19771,NA19786,NA19789,NA20314,NA20320,NA20351,NA20585,NA20589,NA20814,NA20859,NA20887,NA20890,NA21102,NA21114,NA21118,NA21123,NA21127,NA21144 dgv22n209 1 12896528 12900070 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5827855,nsv5827854,nsv5827962 M 914 0 0 "" nsv6318707 1 12896554 12898653 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200005 M 19652 1 0 "" nsv3550017 1 12896603 12938250 OTHER inversion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14455585 M 9 0 0 HNRNPCL1,LOC649330,PRAMEF2 HG00513 nsv6320173 1 12896754 12900053 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200007 M 19652 1 0 "" nsv4518214 1 12897598 12898322 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847759 M 10847 0 1 "" nsv5433097 1 12897708 12898148 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894049 M 3202 0 1 "" dgv16n67 1 12897764 12920188 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv829437,nsv829426,nsv829448,nsv829459 M 31 7 0 HNRNPCL1,LOC649330,PRAMEF2 AK10,NA18526,NA18564,NA18570,NA18947,NA18949,NA18972 nsv5683963 1 12897895 12897895 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17174617 M 3202 1 0 "" esv2743908 1 12898017 12898360 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863951,essv6847008,essv6843798,essv6669166,essv6807370,essv6917420,essv6910037 M 96 0 7 "" SSM005,SSM011,SSM015,SSM017,SSM075,SSM086,SSM089 nsv5417917 1 12898023 12898323 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894060 M 3202 0 1 "" nsv5568874 1 12898044 12898321 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060370 M 35 0 1 "" HG00513 nsv5980907 1 12898044 12898322 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528655 M 405 0 1 "" nsv3524138 1 12898044 12898323 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14334732 M 9 0 1 "" HG00513 nsv6321751 1 12898044 12898323 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051461 M 19652 0 1 "" nsv1077538 1 12898044 12898332 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772495 M 1 0 1 "" KWP1 nsv4739576 1 12898047 12898326 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16282240 M 25 0 1 "" nsv4516660 1 12898060 12898329 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847768 M 10847 0 1 "" nsv5421275 1 12898143 12952126 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894082 M 3202 0 1 HNRNPCL1,LOC649330,PRAMEF2,PRAMEF4 esv2678231 1 12898628 13013341 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5596796 M 1151 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 NA19661 nsv6319252 1 12898655 12953331 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051462 M 19652 0 1 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF4 nsv5827963 1 12898694 12900170 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455362,nssv17466325,nssv17465618 M 914 0 0 "" nsv5827648 1 12898817 12905189 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468854,nssv17450302,nssv17462664 M 914 0 0 "" nsv5827756 1 12898818 12908510 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450928,nssv17462763,nssv17467488 M 914 0 0 HNRNPCL1,LOC649330 dgv71n223 1 12898854 12909253 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6324875,nsv6317278 M 19652 2 0 HNRNPCL1,LOC649330 nsv6329848 1 12898854 12970144 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200014 M 19652 1 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF4 nsv5980908 1 12898936 12900242 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526142 M 405 0 1 "" nsv6335183 1 12899054 12900453 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200015 M 19652 1 0 "" nsv5571757 1 12899556 12899801 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060372 M 35 0 1 "" NA12878 dgv131n54 1 12899734 12924612 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545515,nsv545510,nsv545514,nsv545509,nsv545513,nsv545511,nsv545512 M 17421 0 38 HNRNPCL1,LOC649330,PRAMEF2 dgv7e214 1 12901370 12921250 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585248,esv3585249 M 2504 392 0 HNRNPCL1,LOC649330,PRAMEF2 HG00102,HG00130,HG00146,HG00148,HG00157,HG00183,HG00189,HG00238,HG00250,HG00252,HG00282,HG00285,HG00308,HG00334,HG00339,HG00342,HG00351,HG00375,HG00376,HG00409,HG00410,HG00422,HG00436,HG00446,HG00452,HG00457,HG00458,HG00472,HG00475,HG00476,HG00500,HG00513,HG00525,HG00530,HG00531,HG00536,HG00543,HG00559,HG00560,HG00566,HG00581,HG00592,HG00593,HG00599,HG00607,HG00610,HG00613,HG00614,HG00620,HG00622,HG00623,HG00626,HG00628,HG00631,HG00634,HG00656,HG00657,HG00662,HG00663,HG00671,HG00675,HG00692,HG00699,HG00704,HG00705,HG00707,HG00728,HG00729,HG00739,HG00766,HG00864,HG00867,HG00879,HG00982,HG01064,HG01130,HG01136,HG01303,HG01356,HG01375,HG01402,HG01438,HG01485,HG01492,HG01596,HG01597,HG01598,HG01600,HG01710,HG01768,HG01783,HG01786,HG01794,HG01795,HG01797,HG01800,HG01805,HG01809,HG01812,HG01816,HG01840,HG01844,HG01846,HG01847,HG01849,HG01850,HG01851,HG01852,HG01853,HG01855,HG01860,HG01861,HG01866,HG01867,HG01868,HG01870,HG01872,HG01873,HG01874,HG01890,HG01915,HG01917,HG02012,HG02016,HG02019,HG02020,HG02029,HG02032,HG02051,HG02058,HG02067,HG02069,HG02072,HG02079,HG02081,HG02082,HG02086,HG02095,HG02108,HG02116,HG02121,HG02122,HG02127,HG02128,HG02130,HG02133,HG02137,HG02138,HG02140,HG02144,HG02153,HG02154,HG02156,HG02164,HG02165,HG02180,HG02181,HG02182,HG02185,HG02187,HG02188,HG02190,HG02232,HG02250,HG02309,HG02351,HG02356,HG02360,HG02379,HG02380,HG02389,HG02391,HG02392,HG02395,HG02397,HG02398,HG02409,HG02462,HG02491,HG02494,HG02512,HG02522,HG02555,HG02558,HG02580,HG02594,HG02601,HG02642,HG02643,HG02725,HG02727,HG02756,HG02786,HG02804,HG02840,HG02861,HG02881,HG02895,HG02982,HG03049,HG03081,HG03091,HG03133,HG03159,HG03190,HG03209,HG03228,HG03235,HG03240,HG03354,HG03369,HG03378,HG03388,HG03472,HG03490,HG03491,HG03521,HG03558,HG03631,HG03640,HG03645,HG03667,HG03679,HG03680,HG03691,HG03697,HG03705,HG03717,HG03742,HG03753,HG03770,HG03773,HG03777,HG03785,HG03787,HG03800,HG03802,HG03857,HG03858,HG03866,HG03872,HG03896,HG03916,HG03928,HG03953,HG03969,HG03973,HG03978,HG03990,HG04025,HG04026,HG04039,HG04056,HG04096,HG04146,HG04152,HG04176,HG04182,HG04183,HG04211,NA06989,NA10847,NA11918,NA11930,NA12003,NA12004,NA12414,NA12751,NA12761,NA12815,NA18525,NA18526,NA18531,NA18534,NA18535,NA18536,NA18539,NA18541,NA18543,NA18550,NA18553,NA18557,NA18560,NA18563,NA18564,NA18565,NA18566,NA18570,NA18573,NA18574,NA18577,NA18579,NA18592,NA18596,NA18599,NA18602,NA18606,NA18609,NA18610,NA18612,NA18616,NA18617,NA18619,NA18621,NA18622,NA18623,NA18625,NA18626,NA18629,NA18631,NA18636,NA18638,NA18639,NA18642,NA18644,NA18645,NA18647,NA18740,NA18745,NA18748,NA18861,NA18923,NA18924,NA18940,NA18941,NA18946,NA18947,NA18949,NA18950,NA18952,NA18957,NA18961,NA18964,NA18971,NA18972,NA18977,NA18982,NA18984,NA18990,NA18992,NA18994,NA18997,NA18998,NA19000,NA19001,NA19002,NA19005,NA19042,NA19043,NA19056,NA19058,NA19065,NA19067,NA19075,NA19079,NA19080,NA19085,NA19088,NA19089,NA19090,NA19091,NA19092,NA19096,NA19116,NA19190,NA19198,NA19236,NA19390,NA19393,NA19684,NA19779,NA19914,NA19916,NA20126,NA20296,NA20513,NA20760,NA20802,NA20818,NA20851,NA20856,NA20861,NA20877,NA20895,NA20896,NA20906,NA21099,NA21113,NA21119,NA21128,NA21130,NA21137 esv3585247 1 12901370 12921250 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9858278,essv9858142,essv9858303,essv9858148,essv9858314,essv9858089,essv9858301,essv9858149,essv9858291,essv9858114,essv9858283,essv9858100,essv9858281,essv9858106,essv9858305,essv9858126,essv9858272,essv9858134,essv9858311,essv9858120,essv9858312,essv9858092,essv9858317,essv9858076,essv9858292,essv9858086,essv9858302,essv9858121,essv9858270,essv9858094,essv9858288,essv9858140,essv9858296,essv9858104,essv9858285,essv9858150,essv9858298,essv9858088,essv9858274,essv9858087,essv9858300,essv9858070,essv9858293,essv9858083,essv9858308,essv9858130,essv9858297,essv9858093,essv9858313,essv9858082,essv9858316,essv9858081,essv9858307,essv9858116,essv9858304,essv9858110,essv9858309,essv9858123,essv9858315,essv9858138,essv9858295,essv9858073,essv9858280,essv9858078,essv9858271,essv9858132,essv9858277,essv9858136,essv9858289,essv9858098,essv9858276,essv9858107,essv9858284,essv9858074,essv9858273,essv9858147,essv9858310,essv9858143,essv9858306,essv9858097,essv9858286,essv9858091,essv9858282,essv9858137,essv9858279,essv9858133,essv9858294,essv9858127,essv9858299,essv9858124,essv9858290,essv9858129,essv9858287,essv9858072,essv9858275,essv9858113,essv9858038,essv9858202,essv9858096,essv9858062,essv9858194,essv9858075,essv9858048,essv9858221,essv9858077,essv9858028,essv9858222,essv9858141,essv9858055,essv9858205,essv9858122,essv9858067,essv9858188,essv9858128,essv9858015,essv9858225,essv9858119,essv9858035,essv9858220,essv9858102,essv9858037,essv9858215,essv9858139,essv9858047,essv9858212,essv9858146,essv9858049,essv9858195,essv9858131,essv9858031,essv9858198,essv9858080,essv9858065,essv9858208,essv9858084,essv9858036,essv9858206,essv9858071,essv9858033,essv9858204,essv9858079,essv9858061,essv9858200,essv9858101,essv9858020,essv9858211,essv9858135,essv9858025,essv9858197,essv9858144,essv9858066,essv9858191,essv9858109,essv9858043,essv9858228,essv9858125,essv9858022,essv9858203,essv9858108,essv9858026,essv9858213,essv9858105,essv9858046,essv9858201,essv9858095,essv9858019,essv9858219,essv9858112,essv9858064,essv9858207,essv9858099,essv9858016,essv9858218,essv9858111,essv9858024,essv9858190,essv9858145,essv9858021,essv9858192,essv9858103,essv9858017,essv9858199,essv9858085,essv9858039,essv9858209,essv9858090,essv9858059,essv9858214,essv9858151,essv9858018,essv9858224,essv9858115,essv9858051,essv9858193,essv9858118,essv9858032,essv9858189,essv9858117,essv9858063,essv9858226,essv9858069,essv9858227,essv9858023,essv9858210,essv9858030,essv9858223,essv9858044,essv9858196,essv9858054,essv9858217,essv9858040,essv9858216,essv9858034,essv9858243,essv9858042,essv9858261,essv9858041,essv9858241,essv9858045,essv9858240,essv9858060,essv9858260,essv9858058,essv9858263,essv9858053,essv9858237,essv9858050,essv9858262,essv9858027,essv9858257,essv9858068,essv9858252,essv9858057,essv9858265,essv9858029,essv9858264,essv9858056,essv9858268,essv9858052,essv9858253,essv9858014,essv9858232,essv9858001,essv9858254,essv9858013,essv9858269,essv9858002,essv9858248,essv9857999,essv9858236,essv9858003,essv9858231,essv9858004,essv9858267,essv9858005,essv9858255,essv9858010,essv9858259,essv9858009,essv9858235,essv9858006,essv9858251,essv9858000,essv9858242,essv9858012,essv9858247,essv9858007,essv9858233,essv9858008,essv9858246,essv9858011,essv9858258,essv9858181,essv9858249,essv9858175,essv9858230,essv9858174,essv9858238,essv9858173,essv9858234,essv9858154,essv9858256,essv9858187,essv9858245,essv9858183,essv9858250,essv9858176,essv9858266,essv9858177,essv9858239,essv9858162,essv9858244,essv9858166,essv9858229,essv9858156,essv9858159,essv9858169,essv9858180,essv9858155,essv9858185,essv9858171,essv9858161,essv9858170,essv9858160,essv9858168,essv9858158,essv9858167,essv9858157,essv9858178,essv9858165,essv9858163,essv9858182,essv9858179,essv9858164,essv9858172,essv9858184,essv9858153,essv9858152,essv9858186 M 2504 0 319 HNRNPCL1,LOC649330,PRAMEF2 HG00100,HG00120,HG00176,HG00185,HG00244,HG00250,HG00257,HG00278,HG00304,HG00321,HG00334,HG00342,HG00349,HG00360,HG00442,HG00445,HG00479,HG00524,HG00543,HG00580,HG00584,HG00596,HG00672,HG00684,HG00692,HG00982,HG01048,HG01055,HG01101,HG01102,HG01111,HG01113,HG01124,HG01131,HG01142,HG01162,HG01177,HG01183,HG01200,HG01251,HG01280,HG01305,HG01308,HG01312,HG01323,HG01326,HG01342,HG01344,HG01350,HG01354,HG01369,HG01372,HG01377,HG01383,HG01412,HG01440,HG01443,HG01462,HG01498,HG01537,HG01551,HG01565,HG01571,HG01572,HG01578,HG01596,HG01598,HG01599,HG01615,HG01624,HG01628,HG01676,HG01682,HG01776,HG01802,HG01806,HG01808,HG01845,HG01846,HG01847,HG01855,HG01859,HG01863,HG01868,HG01878,HG01880,HG01892,HG01893,HG01920,HG01921,HG01923,HG01927,HG01932,HG01933,HG01936,HG01938,HG01939,HG01942,HG01944,HG01947,HG01948,HG01950,HG01953,HG01954,HG01961,HG01967,HG01968,HG01971,HG01973,HG01974,HG01979,HG01980,HG01988,HG01989,HG01990,HG01997,HG02002,HG02008,HG02026,HG02031,HG02072,HG02087,HG02090,HG02116,HG02136,HG02144,HG02146,HG02147,HG02150,HG02156,HG02252,HG02259,HG02266,HG02271,HG02277,HG02282,HG02285,HG02286,HG02298,HG02299,HG02301,HG02304,HG02315,HG02323,HG02345,HG02360,HG02394,HG02406,HG02409,HG02449,HG02450,HG02461,HG02464,HG02490,HG02501,HG02549,HG02573,HG02588,HG02651,HG02666,HG02700,HG02715,HG02716,HG02722,HG02731,HG02772,HG02810,HG02840,HG02854,HG02855,HG02968,HG02981,HG03007,HG03028,HG03040,HG03046,HG03086,HG03099,HG03121,HG03135,HG03235,HG03241,HG03267,HG03294,HG03298,HG03342,HG03376,HG03401,HG03470,HG03538,HG03558,HG03616,HG03693,HG03711,HG03722,HG03730,HG03753,HG03755,HG03757,HG03784,HG03805,HG03812,HG03815,HG03823,HG03837,HG03856,HG03858,HG03868,HG03888,HG03902,HG03950,HG03951,HG04006,HG04019,HG04093,HG04094,HG04161,HG04162,HG04177,HG04206,HG04235,NA06994,NA10851,NA12044,NA12286,NA12383,NA12400,NA12413,NA12489,NA12546,NA12718,NA12763,NA12873,NA12874,NA18501,NA18508,NA18559,NA18567,NA18591,NA18592,NA18606,NA18611,NA18614,NA18621,NA18645,NA18941,NA18946,NA18951,NA18963,NA18965,NA18969,NA18981,NA18983,NA18990,NA18991,NA19000,NA19017,NA19023,NA19024,NA19031,NA19038,NA19066,NA19079,NA19083,NA19087,NA19114,NA19222,NA19316,NA19319,NA19331,NA19334,NA19380,NA19394,NA19428,NA19431,NA19437,NA19443,NA19475,NA19652,NA19661,NA19663,NA19681,NA19700,NA19726,NA19732,NA19734,NA19735,NA19740,NA19746,NA19747,NA19755,NA19762,NA19770,NA19771,NA19786,NA19789,NA20274,NA20314,NA20320,NA20351,NA20585,NA20589,NA20810,NA20814,NA20828,NA20859,NA20887,NA20890,NA20908,NA21102,NA21110,NA21111,NA21114,NA21118,NA21123,NA21127,NA21130,NA21142,NA21144 nsv5827757 1 12901819 12908510 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452395,nssv17468267,nssv17460934 M 914 0 0 HNRNPCL1,LOC649330 nsv819147 1 12904000 13171318 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418797 M 2 1 0 HNRNPCL1,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 AK1 nsv821616 1 12904306 13711215 CNV gain Sebat_et_al_2004 15273396 ROMA nssv1421341,nssv1421352,nssv1421363,nssv1421374,nssv1421179,nssv1421290 M 31 6 0 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 esv2743920 1 12904579 12909510 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6764156 M 96 0 1 HNRNPCL1,LOC649330 SSM063 nsv3180257 1 12905124 12920239 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14414544,nssv14414543 M 9 0 0 HNRNPCL1,LOC649330,PRAMEF2 HG00514 nsv5827964 1 12905555 12915229 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457858,nssv17466404 M 914 0 0 HNRNPCL1,LOC649330 nsv5610335 1 12906907 12906907 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060379 M 35 1 0 "" HG00513 nsv6051324 1 12906909 12906909 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534031 M 405 1 0 "" nsv6057522 1 12906943 12906943 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532326 M 405 1 0 "" esv2675529 1 12907342 13183072 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6464502,essv6037647,essv6562809,essv6377713,essv6274420,essv6182285,essv5724395,essv5937542,essv6560398,essv6075220,essv6032809,essv6043566,essv5512955,essv5540544,essv6454116,essv6323765 M 1151 0 16 HNRNPCL1,HNRNPCP5,LOC649330,PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF23,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 HG00126,HG00369,HG00534,HG00613,HG00684,HG01067,HG01173,HG01365,NA12718,NA18867,NA18982,NA19436,NA19455,NA19701,NA19713,NA19917 dgv72n223 1 12907454 12926455 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6317380,nsv6334409 M 19652 2 0 HNRNPCL1,LOC649330,PRAMEF2 esv2743942 1 12908832 12946292 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6675195 M 96 0 1 PRAMEF2,PRAMEF4 SSM032 nsv442514 1 12909237 12927107 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1616958,nssv1616791,nssv1617035,nssv1617135,nssv1617291,nssv1616902,nssv1616769,nssv1616869,nssv1617224,nssv1616836,nssv1617080,nssv1616780,nssv1617169,nssv1616802,nssv1616847,nssv1616880,nssv1616813,nssv1616824,nssv1616980,nssv1617002,nssv1616747,nssv1617257,nssv1617069,nssv1617013,nssv1616969,nssv1616691,nssv1617202,nssv1616658,nssv1617280,nssv1616947,nssv1617268,nssv1617058,nssv1616702,nssv1616991,nssv1616858,nssv1616713,nssv1617246,nssv1617113,nssv1617213,nssv1616891,nssv1617124,nssv1616935,nssv1617024,nssv1617235,nssv1616758,nssv1617302,nssv1617313,nssv1617046,nssv1617157,nssv1616680,nssv1616913,nssv1616924,nssv1617146,nssv1617091,nssv1617102,nssv1616725,nssv1616736,nssv1616669,nssv1617180,nssv1617191 M 270 31 29 PRAMEF2 NA06994,NA07345,NA07348,NA10838,NA10847,NA10851,NA10857,NA12003,NA12004,NA12044,NA12057,NA12239,NA12717,NA12751,NA12753,NA12763,NA12815,NA12864,NA12865,NA12873,NA12874,NA12875,NA18501,NA18506,NA18508,NA18526,NA18550,NA18563,NA18564,NA18566,NA18570,NA18593,NA18609,NA18611,NA18612,NA18622,NA18636,NA18861,NA18863,NA18940,NA18949,NA18951,NA18952,NA18964,NA18965,NA18969,NA18971,NA18972,NA18981,NA18991,NA18992,NA18997,NA18998,NA19005,NA19092,NA19103,NA19116,NA19127,NA19129,NA19222 dgv132n54 1 12909239 12921110 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545522,nsv545519,nsv545518,nsv545525 M 17421 0 4 PRAMEF2 nsv4046758 1 12909400 12916300 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963020 M 10847 1 0 "" esv3577735 1 12910004 13709344 CNV loss Uddin_et_al_2014 25503493 SNP array essv9797088 M 873 0 1 HNRNPCP5,PRAMEF10,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF2,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF4,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 401661HD nsv6321824 1 12910472 12913661 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051463 M 19652 0 1 "" nsv4042681 1 12910475 12913661 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15794616,nssv15780787,nssv15794618,nssv15780786,nssv15794617,nssv15780785,nssv15780784 M 10847 0 0 "" dgv73n223 1 12910654 12954831 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6323526,nsv6327481 M 19652 2 0 PRAMEF10,PRAMEF2,PRAMEF4 dgv10n27 1 12911200 12913896 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460361,nsv460372,nsv460383,nsv460395,nsv460472,nsv460406,nsv460461,nsv460417,nsv460428,nsv460450,nsv460439 M 1557 0 11 "" HGDP00467,HGDP00541,HGDP00702,HGDP00832,HGDP00837,HGDP00846,HGDP00849,HGDP00876,HGDP00984,HGDP00995,HGDP00999 nsv545520 1 12911200 12913896 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173756,nssv1173753,nssv1173754,nssv1173755,nssv1173757,nssv1173758,nssv1173759,nssv1173760,nssv1173761,nssv1173762,nssv1173763,nssv1173765,nssv1173764,nssv1173766,nssv1173752,nssv1173751,nssv1173767,nssv1173750 M 17421 0 18 "" HGDP00467,HGDP00541,HGDP00702,HGDP00830,HGDP00832,HGDP00833,HGDP00834,HGDP00837,HGDP00844,HGDP00846,HGDP00847,HGDP00848,HGDP00849,HGDP00850,HGDP00876,HGDP00984,HGDP00995,HGDP00999 dgv133n54 1 12911200 12919434 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545521,nsv545524,nsv545523 M 17421 0 4 PRAMEF2 nsv6320458 1 12911654 12916154 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200021 M 19652 1 0 "" nsv5827856 1 12913582 12917071 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457963,nssv17459464 M 914 0 0 PRAMEF2 nsv955256 1 12913801 12949300 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3001845 M 1 1 0 PRAMEF2,PRAMEF4 BILGI_BIOE dgv134n54 1 12915847 13052921 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545528,nsv545527 M 17421 2 0 PRAMEF10,PRAMEF2,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 esv3659622 1 12915891 12915891 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16482864 M 20 1 0 "" dgv74n223 1 12916455 12925655 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6316494,nsv6333192 M 19652 2 0 PRAMEF2 nsv5827758 1 12917372 12921246 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454221,nssv17459515 M 914 0 0 PRAMEF2 nsv6324393 1 12917456 12937121 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200025 M 19652 1 0 PRAMEF2 nsv5827649 1 12917472 12919054 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463026,nssv17451600 M 914 0 0 PRAMEF2 dgv23n209 1 12917572 12925665 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5827760,nsv5827759 M 914 0 0 PRAMEF2 nsv6332305 1 12917956 12921155 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200027 M 19652 1 0 PRAMEF2 nsv5578349 1 12918688 12918787 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060380 M 35 0 1 PRAMEF2 NA12329 nsv5980909 1 12918688 12918788 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525686 M 405 0 1 PRAMEF2 esv3659690 1 12919944 12919944 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16482925 M 20 1 0 PRAMEF2 nsv6316773 1 12921356 12925755 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200028 M 19652 1 0 PRAMEF2 nsv6320881 1 12922919 12944921 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200029 M 19652 1 0 PRAMEF4 nsv3189367 1 12923068 12938038 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14414187,nssv14414188 M 9 0 0 "" HG00514 dgv38n106 1 12923300 12927700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1118428,nsv1141128 M 2 2 0 "" KWS1,KWS2 nsv6330641 1 12924056 12926355 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200030 M 19652 1 0 "" nsv4050731 1 12926800 12933400 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15794625,nssv15794621,nssv15794626,nssv15794622,nssv15794620,nssv15794624,nssv15794619,nssv15794623 M 10847 0 0 "" nsv3050051 1 12927329 12927478 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14031871 M 2 0 1 "" NA12878 nsv3319381 1 12927357 12927357 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488471 M 14 1 0 "" HG02106 nsv3319382 1 12927365 12927440 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480953 M 14 0 1 "" HG02106 nsv3319823 1 12927382 12927530 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488579 M 14 0 1 "" HG02106 nsv5575573 1 12927410 12927559 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060381 M 35 0 1 "" HG01114 dgv75n223 1 12927438 12990030 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6331323,nsv6335379 M 19652 2 0 PRAMEF10,PRAMEF4,PRAMEF7,PRAMEF8 nsv3319184 1 12927499 12927614 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488930 M 14 0 1 "" HG02106 nsv5564966 1 12927542 12927611 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060382 M 35 0 1 "" HG00731 nsv5949329 1 12927575 12927575 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17369536 M 914 1 0 "" nsv6318409 1 12927622 12935021 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200032 M 19652 1 0 "" nsv6045280 1 12927636 12927636 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533873 M 405 1 0 "" dgv76n223 1 12927722 12953331 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6328479,nsv6325856,nsv6320434 M 19652 3 0 PRAMEF10,PRAMEF4 dgv77n223 1 12927922 12937921 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6331270,nsv6317645 M 19652 2 0 "" nsv6322536 1 12928022 12931621 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200036 M 19652 1 0 "" nsv5980975 1 12928453 12941673 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17529695 M 405 1 0 PRAMEF4 dgv78n223 1 12930122 12935521 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6323588,nsv6333913 M 19652 2 0 "" nsv6318708 1 12930122 12945321 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200040 M 19652 1 0 PRAMEF4 nsv1075771 1 12930299 12932400 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3763320 M 1 1 0 "" KWP1 nsv1110127 1 12930300 12937700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3959392 M 2 1 0 "" KWS1 nsv1141129 1 12930300 12949200 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3992636 M 2 1 0 PRAMEF4 KWS2 dgv79n223 1 12930422 12941921 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6324735,nsv6324253,nsv6325880 M 19652 3 0 PRAMEF4 nsv4046364 1 12931850 12938000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15794627,nssv15794628,nssv15794634,nssv15794635,nssv15794629,nssv15794632,nssv15794631,nssv15794630,nssv15794633 M 10847 0 0 "" nsv1075772 1 12932599 12950200 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3772462 M 1 1 0 PRAMEF4 KWP1 dgv80n223 1 12933522 12947824 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6321944,nsv6331181 M 19652 2 0 PRAMEF4 nsv6331967 1 12933622 12938421 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200047 M 19652 1 0 "" esv3326797 1 12933965 12935263 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691776 M 185 1 0 "" NA12878 nsv5870951 1 12935548 12935649 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349636 M 914 0 1 "" esv3585250 1 12935657 13049137 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9858757,essv9858715,essv9858759,essv9858714,essv9858761,essv9858766,essv9858753,essv9858756,essv9858764,essv9858754,essv9858760,essv9858765,essv9858755,essv9858758,essv9858763,essv9858762,essv9858767,essv9858713,essv9858741,essv9858717,essv9858728,essv9858719,essv9858736,essv9858718,essv9858749,essv9858716,essv9858726,essv9858743,essv9858750,essv9858721,essv9858748,essv9858739,essv9858738,essv9858734,essv9858724,essv9858744,essv9858746,essv9858731,essv9858725,essv9858747,essv9858732,essv9858733,essv9858737,essv9858729,essv9858720,essv9858740,essv9858722,essv9858745,essv9858752,essv9858751,essv9858742,essv9858727,essv9858730,essv9858723,essv9858735 M 2504 0 55 PRAMEF10,PRAMEF22,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 HG00442,HG01108,HG01176,HG01889,HG01915,HG02136,HG02471,HG02511,HG02574,HG02666,HG02716,HG02768,HG02805,HG02810,HG02814,HG02816,HG02896,HG02938,HG02941,HG02946,HG02981,HG02983,HG03007,HG03025,HG03055,HG03057,HG03082,HG03095,HG03099,HG03100,HG03112,HG03124,HG03126,HG03163,HG03265,HG03268,HG03397,HG03428,HG03432,HG03469,HG03548,HG03563,HG04161,NA18499,NA18505,NA18969,NA19066,NA19083,NA19118,NA19190,NA19394,NA19909,NA20282,NA20298,NA20342 nsv6138852 1 12936111 12942111 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894104 M 3202 0 1 PRAMEF4 nsv5582797 1 12936229 12936503 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060383 M 35 0 1 "" HG03371 nsv5980910 1 12936296 12946697 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537435 M 405 0 1 PRAMEF4 nsv6319874 1 12936322 12940621 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200049 M 19652 1 0 PRAMEF4 nsv6317979 1 12937622 12943021 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200050 M 19652 1 0 PRAMEF4 nsv4043211 1 12938000 12952000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15794641,nssv15794636,nssv15794638,nssv15794637,nssv15794639,nssv15794640,nssv15794643,nssv15794642,nssv15794644 M 10847 0 0 PRAMEF4 nsv6327432 1 12938122 12940821 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200051 M 19652 1 0 PRAMEF4 dgv81n223 1 12939022 12945521 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6324228,nsv6316685 M 19652 2 0 PRAMEF4 dgv135n54 1 12939393 13011457 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545529,nsv545531,nsv545530,nsv545533 M 17421 0 5 PRAMEF10,PRAMEF4,PRAMEF6,PRAMEF7,PRAMEF8 nsv6138072 1 12940111 12997147 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894123 M 3202 0 1 PRAMEF10,PRAMEF4,PRAMEF7,PRAMEF8 nsv6318169 1 12940122 12942921 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200053 M 19652 1 0 PRAMEF4 nsv5981039 1 12940129 12945337 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17522895 M 405 1 0 PRAMEF4 nsv5621449 1 12940534 12940534 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060384 M 35 1 0 PRAMEF4 NA18534 nsv5827965 1 12940619 12944206 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465004,nssv17467059,nssv17459927 M 914 0 0 PRAMEF4 nsv6051131 1 12941709 12941709 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521672 M 405 1 0 PRAMEF4 nsv3319824 1 12941710 12941710 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14475890,nssv14484045 M 14 2 0 PRAMEF4 HG00514,HG02106 nsv3561563 1 12941720 12941720 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14333535 M 9 1 0 PRAMEF4 HG00512 nsv5678182 1 12941720 12941720 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205645,nssv17175636 M 3202 2 0 PRAMEF4 nsv6244272 1 12941720 12941720 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856803 M 1021 1 0 PRAMEF4 nsv5539813 1 12941720 12941728 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894124 M 3202 1 0 PRAMEF4 nsv5827966 1 12941810 12943971 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465986,nssv17457770,nssv17466794 M 914 0 0 PRAMEF4 nsv1118429 1 12943300 12945500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958935 M 2 1 0 PRAMEF4 KWS1 nsv6334701 1 12943622 12945621 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200055 M 19652 1 0 PRAMEF4 esv3435358 1 12943865 12945463 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691777 M 185 1 0 PRAMEF4 NA12878 nsv5827650 1 12943872 12947058 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458025,nssv17462226 M 914 0 0 PRAMEF4 nsv3319614 1 12945522 12960831 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14475094,nssv14478662 M 14 2 0 PRAMEF10,PRAMEF4 HG02106,NA19434 nsv4517868 1 12946000 12989000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963022 M 10847 1 0 PRAMEF10,PRAMEF4,PRAMEF7,PRAMEF8 nsv6328623 1 12946025 12948624 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200056 M 19652 1 0 "" nsv6332726 1 12946225 12946924 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200057 M 19652 1 0 "" nsv6328103 1 12946325 12948024 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200058 M 19652 1 0 "" nsv6326552 1 12947025 12948524 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200059 M 19652 1 0 "" nsv5580873 1 12947643 12948042 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060391 M 35 0 1 "" NA24385 nsv958827 1 12947662 12948053 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005182 M 1 0 1 "" BILGI_BIOE esv2665195 1 12949845 12966192 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6170724,essv6035703,essv6179555,essv6305066,essv5403358,essv5828485,essv5737883,essv6094799,essv5699349,essv5702422 M 1151 0 10 PRAMEF10 NA19661,NA19663,NA19664,NA19681,NA19726,NA19746,NA19747,NA19770,NA19782,NA19789 nsv4047549 1 12950000 12966000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847778 M 10847 0 1 PRAMEF10 nsv6326670 1 12950932 12953231 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200060 M 19652 1 0 PRAMEF10 nsv545532 1 12951774 12985238 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710207 M 17421 0 1 PRAMEF10,PRAMEF7,PRAMEF8 nsv6334732 1 12952132 12977820 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200061 M 19652 1 0 PRAMEF10,PRAMEF7,PRAMEF8 nsv5609514 1 12952815 12952815 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060395 M 35 1 0 PRAMEF10 HG03732 nsv3056053 1 12952832 12952832 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14023098 M 2 1 0 PRAMEF10 NA12878 nsv4039362 1 12953050 12961500 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963023 M 10847 1 0 PRAMEF10 nsv4041780 1 12954600 12955331 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847786 M 10847 0 1 PRAMEF10 nsv6335388 1 12956832 12959131 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200062 M 19652 1 0 PRAMEF10 nsv4036182 1 12957000 12962100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847796 M 10847 0 1 PRAMEF10 nsv6318397 1 12957532 12960031 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200063 M 19652 1 0 PRAMEF10 nsv6325629 1 12958632 12972344 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200064 M 19652 1 0 "" nsv6320482 1 12960332 12962543 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200065 M 19652 1 0 "" nsv1075581 1 12961299 12966500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767720 M 1 0 1 "" KWP1 nsv945775 1 12961351 12974577 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1751521,nssv1751571,nssv1754279,nssv1751573,nssv1751536,nssv1751558,nssv1751576,nssv1751572,nssv1754286,nssv1751566,nssv1751530,nssv1751549,nssv1751524,nssv1751543,nssv1751529,nssv1751552,nssv1751517,nssv1751557,nssv1751534,nssv1751546,nssv1751533,nssv1751540,nssv1751522,nssv1751554,nssv1754280,nssv1751563,nssv1754284,nssv1751544,nssv1754287,nssv1751551,nssv1751580,nssv1751556,nssv1751578,nssv1751561,nssv1754283,nssv1751548,nssv1751538,nssv1751539,nssv1751574,nssv1751560,nssv1751581,nssv1751568,nssv1751577,nssv1751545,nssv1751528,nssv1751567,nssv1751515,nssv1751570,nssv1751582,nssv1751565,nssv1751527,nssv1751562,nssv1751516,nssv1751569,nssv1751579,nssv1751541,nssv1754278,nssv1751550,nssv1754277,nssv1751559,nssv1751523,nssv1751547,nssv1751532,nssv1751555,nssv1754276,nssv1754282,nssv1751537,nssv1754275,nssv1751519,nssv1754274,nssv1754272,nssv1751583,nssv1751518,nssv1754273,nssv1751535,nssv1754281,nssv1754285,nssv1751526,nssv1751525,nssv1751584 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6321853 1 12963544 12973444 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200066 M 19652 1 0 "" nsv6138628 1 12964133 12973144 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683764 M 3202 1 0 "" nsv4039707 1 12965400 12972000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847803 M 10847 0 1 "" nsv4035292 1 12967150 12980450 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15794650,nssv15794649,nssv15794648,nssv15794647,nssv15794646,nssv15794645 M 10847 0 0 PRAMEF7,PRAMEF8 nsv945776 1 12974577 13052998 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752282,nssv1751612,nssv1751627,nssv1751616,nssv1752261,nssv1752292,nssv1752280,nssv1751604,nssv1751638,nssv1752296,nssv1752275,nssv1752287,nssv1751634,nssv1752293,nssv1752276,nssv1751591,nssv1751629,nssv1751610,nssv1752263,nssv1751624,nssv1752307,nssv1751620,nssv1751643,nssv1751592,nssv1752298,nssv1752291,nssv1752267,nssv1751606,nssv1752281,nssv1752289,nssv1751635,nssv1751594,nssv1752305,nssv1751593,nssv1752265,nssv1752286,nssv1752306,nssv1751609,nssv1752270,nssv1752294,nssv1752303,nssv1751601,nssv1751642,nssv1751615,nssv1752271,nssv1751605,nssv1751631,nssv1751598,nssv1752297,nssv1751622,nssv1752300,nssv1751613,nssv1752262,nssv1751603,nssv1751633,nssv1752288,nssv1752304,nssv1751611,nssv1752284,nssv1751626,nssv1752302,nssv1751621,nssv1752278,nssv1751599,nssv1751636,nssv1751607,nssv1751628,nssv1751602,nssv1751632,nssv1751625,nssv1752285,nssv1751617,nssv1752264,nssv1751623,nssv1751640,nssv1751600,nssv1752272,nssv1751585,nssv1752260,nssv1751614,nssv1751637,nssv1751618,nssv1751639,nssv1751590,nssv1752277,nssv1751596,nssv1752273,nssv1751588,nssv1752283,nssv1751595,nssv1752266,nssv1752295,nssv1752269,nssv1751587,nssv1752274,nssv1751589,nssv1752299 M 97 10 0 PRAMEF22,PRAMEF6,PRAMEF7,PRAMEF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5568333 1 12975336 12975387 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060401 M 35 0 1 "" HG02011 nsv4046716 1 12979075 12985000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15794651,nssv15780788,nssv15794652,nssv15794654,nssv15780789,nssv15780790,nssv15794653 M 10847 0 0 PRAMEF7,PRAMEF8 nsv1139471 1 12980600 12992100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977058 M 2 1 0 "" KWS2 nsv545534 1 12981060 12998179 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710210 M 17421 0 1 "" nsv545535 1 12981781 13028837 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710211 M 17421 0 1 PRAMEF6 nsv1128588 1 12985400 12990300 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960499 M 2 1 0 "" KWS1 nsv1075773 1 12985899 12994000 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3771227 M 1 1 0 "" KWP1 nsv6138730 1 12989030 12994120 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894127 M 3202 0 1 "" nsv4050229 1 12989200 12998900 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847818 M 10847 0 1 PRAMEF6 nsv6138092 1 12990025 12998830 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894128 M 3202 1 0 PRAMEF6 nsv6138929 1 12994120 13014116 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894129 M 3202 0 1 PRAMEF6 esv3891636 1 12995510 13028837 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25784392,essv25781834,essv25779830,essv25784075 M 3017 0 4 PRAMEF6 nsv545536 1 12995510 13051338 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710212 M 17421 0 1 PRAMEF22,PRAMEF6 nsv5719463 1 12996908 12996908 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17245529 M 3202 1 0 "" nsv508902 1 12998039 13135946 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619771,nssv623773 M 4 2 0 PRAMEF22,PRAMEF23,PRAMEF5,PRAMEF6 NA10860,NA18994 nsv510936 1 12998039 13649130 OTHER complex Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv624358,nssv621649 M 4 0 0 HNRNPCP5,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA15510,NA18994 esv1004322 1 12998381 13052998 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586195 M 3 1 0 PRAMEF22,PRAMEF6 HuRef nsv945564 1 13002444 13005066 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572319,nssv2572270,nssv2572318,nssv2572269,nssv2572324,nssv2572285,nssv2572332,nssv2572340,nssv2572308,nssv2572278,nssv2572307,nssv2572268,nssv2572301,nssv2572281,nssv2572303,nssv2572298,nssv2572325,nssv2572287,nssv2572320,nssv2572284,nssv2572330,nssv2572277,nssv2572302,nssv2572335,nssv2572313,nssv2572286,nssv2572305,nssv2572299,nssv2572314,nssv2572296,nssv2572326,nssv2572337,nssv2572315,nssv2572290,nssv2572321,nssv2572300,nssv2572317,nssv2572339,nssv2572309,nssv2572293,nssv2572316,nssv2572264,nssv2572328,nssv2572289,nssv2572334,nssv2572344,nssv2572312,nssv2572341,nssv2572311,nssv2572283,nssv2572331,nssv2572294,nssv2572333,nssv2572292,nssv2572306,nssv2572291,nssv2572304,nssv2572271,nssv2572323,nssv2572342,nssv2572322,nssv2572288,nssv2572327,nssv2572276,nssv2572310,nssv2572275,nssv2572266,nssv2572336,nssv2572267,nssv2572282,nssv2572274,nssv2572338,nssv2572273,nssv2572279,nssv2572265,nssv2572295,nssv2572343,nssv2572297,nssv2572272,nssv2572280 M 97 10 0 PRAMEF6 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv14e199 1 13009645 13047292 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2662684,esv2664955 M 1151 0 355 PRAMEF22 HG00403,HG00404,HG00419,HG00421,HG00422,HG00428,HG00442,HG00443,HG00448,HG00449,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00537,HG00542,HG00543,HG00554,HG00557,HG00559,HG00565,HG00566,HG00580,HG00583,HG00589,HG00592,HG00593,HG00596,HG00607,HG00608,HG00614,HG00619,HG00620,HG00625,HG00626,HG00634,HG00638,HG00640,HG00651,HG00654,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00699,HG00701,HG00704,HG00705,HG00707,HG00708,HG00731,HG00732,HG01047,HG01051,HG01052,HG01055,HG01061,HG01066,HG01069,HG01073,HG01075,HG01079,HG01080,HG01082,HG01083,HG01097,HG01101,HG01102,HG01107,HG01167,HG01168,HG01171,HG01174,HG01176,HG01182,HG01183,HG01188,HG01197,HG01198,HG01204,NA06984,NA06994,NA07037,NA07048,NA07051,NA07056,NA07357,NA11843,NA11893,NA11920,NA11932,NA11992,NA11993,NA11995,NA12003,NA12043,NA12044,NA12046,NA12058,NA12156,NA12287,NA12340,NA12341,NA12342,NA12347,NA12399,NA12413,NA12414,NA12546,NA12716,NA12717,NA12749,NA12750,NA12751,NA12763,NA12776,NA12813,NA18526,NA18534,NA18537,NA18538,NA18541,NA18542,NA18543,NA18545,NA18547,NA18548,NA18550,NA18553,NA18555,NA18559,NA18560,NA18561,NA18563,NA18564,NA18565,NA18566,NA18567,NA18577,NA18579,NA18582,NA18592,NA18593,NA18602,NA18603,NA18606,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18618,NA18620,NA18621,NA18622,NA18624,NA18626,NA18627,NA18628,NA18631,NA18632,NA18633,NA18635,NA18636,NA18638,NA18940,NA18941,NA18942,NA18945,NA18947,NA18948,NA18950,NA18951,NA18952,NA18956,NA18964,NA18965,NA18971,NA18973,NA18980,NA18981,NA18982,NA18985,NA18986,NA18987,NA18989,NA18990,NA19000,NA19002,NA19003,NA19005,NA19012,NA19054,NA19056,NA19058,NA19059,NA19060,NA19065,NA19066,NA19067,NA19070,NA19076,NA19079,NA19080,NA19082,NA19083,NA19084,NA19085,NA19088,NA19312,NA19313,NA19315,NA19316,NA19317,NA19318,NA19319,NA19327,NA19331,NA19332,NA19334,NA19346,NA19360,NA19372,NA19373,NA19375,NA19377,NA19379,NA19380,NA19382,NA19390,NA19393,NA19395,NA19396,NA19397,NA19399,NA19403,NA19404,NA19428,NA19429,NA19430,NA19435,NA19436,NA19437,NA19438,NA19439,NA19443,NA19445,NA19446,NA19448,NA19453,NA19455,NA19456,NA19457,NA19463,NA19466,NA19467,NA19469,NA19472,NA19474,NA19651,NA19654,NA19655,NA19657,NA19660,NA19663,NA19675,NA19676,NA19678,NA19679,NA19681,NA19716,NA19717,NA19719,NA19720,NA19722,NA19723,NA19725,NA19726,NA19731,NA19746,NA19747,NA19749,NA19756,NA19758,NA19759,NA19761,NA19762,NA19770,NA19773,NA19774,NA19776,NA19779,NA19780,NA19785,NA19786,NA19789,NA20502,NA20506,NA20508,NA20509,NA20510,NA20515,NA20516,NA20517,NA20518,NA20520,NA20522,NA20524,NA20526,NA20534,NA20535,NA20537,NA20540,NA20541,NA20542,NA20544,NA20585,NA20588,NA20589,NA20753,NA20756,NA20758,NA20765,NA20773,NA20774,NA20778,NA20786,NA20790,NA20792,NA20801,NA20804,NA20805,NA20808,NA20810 nsv1143436 1 13011200 13047700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980634 M 2 0 1 PRAMEF22 KWS1 nsv4051136 1 13013500 13021700 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846911 M 10847 0 1 "" nsv433183 1 13014884 13189824 CNV loss Cooper_et_al_2008 18776910 SNP array nssv463064 M 9 0 1 HNRNPCP5,PRAMEF22,PRAMEF23,PRAMEF5 NA19129 nsv1112520 1 13017600 13039400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966620 M 2 0 1 PRAMEF22 KWS2 esv3657716 1 13021840 13021892 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16481149 M 20 0 0 "" nsv545537 1 13025563 13052921 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710213 M 17421 1 0 PRAMEF22 nsv953503 1 13027001 13166100 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001856 M 1 0 1 PRAMEF22,PRAMEF23,PRAMEF5 BILGI_BIOE nsv4051902 1 13028500 13034000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846919 M 10847 0 1 "" nsv4047790 1 13033681 13033751 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847484 M 10847 0 1 "" nsv6045176 1 13040858 13040858 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518615 M 405 1 0 "" nsv3319635 1 13040978 13041034 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476091 M 14 0 1 "" HG01352 nsv4047953 1 13042150 13048300 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847494 M 10847 0 1 "" nsv4051071 1 13043100 13052800 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847507 M 10847 0 1 "" nsv1121749 1 13044800 13047700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968398 M 2 0 1 "" KWS2 nsv1075774 1 13047099 13052900 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3767741 M 1 1 0 "" KWP1 nsv821036 1 13047332 13052938 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1419992 M 1 1 0 "" NA10851 nsv3319838 1 13048915 13049016 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14811704,nssv14801951 M 14 0 2 "" CHM13,NA19434 nsv3319393 1 13048916 13049017 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14794497,nssv14803404 M 14 0 2 "" CHM13,HG00514 nsv3246469 1 13048916 13049018 CNV mobile element deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14415061 M 9 0 1 "" HG00514 nsv5981044 1 13048917 13049019 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527580 M 405 0 1 "" nsv5574620 1 13048918 13049019 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060426 M 35 0 1 "" HG03065 nsv6138902 1 13049540 13049979 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894136 M 3202 0 1 "" nsv4516824 1 13049586 13049979 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847518 M 10847 0 1 "" nsv3319204 1 13049596 13049984 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479607 M 14 0 1 "" NA19434 nsv1075173 1 13052899 13320100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771979 M 1 0 1 HNRNPCP5,PRAMEF23,PRAMEF5 KWP1 esv1010773 1 13102999 13124417 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586120 M 3 1 0 PRAMEF23,PRAMEF5 HuRef nsv820886 1 13103023 13148421 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420103 M 1 0 1 PRAMEF23,PRAMEF5 NA10851 esv27872 1 13103023 13219695 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv13717,esv19236,esv20862,esv12755,esv19875,esv10927,esv13674,esv19008,esv10209,esv20553 M 40 14 6 HNRNPCP5,PRAMEF23,PRAMEF5 NA11894,NA12004,NA12044,NA12239,NA12287,NA12414,NA12489,NA12878,NA18517,NA18523,NA18858,NA18861,NA19099,NA19108,NA19129,NA19190,NA19225 nsv945777 1 13103076 13219555 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752402,nssv1752366,nssv1752319,nssv1752364,nssv1752309,nssv1752352,nssv1752311,nssv1752373,nssv1752318,nssv1752382,nssv1752310,nssv1752351,nssv1752321,nssv1752368,nssv1752330,nssv1752375,nssv1752338,nssv1752392,nssv1752314,nssv1752386,nssv1752322,nssv1752412,nssv1752348,nssv1752370,nssv1752347,nssv1752388,nssv1752328,nssv1752380,nssv1752403,nssv1752390,nssv1752335,nssv1752383,nssv1752337,nssv1752361,nssv1752349,nssv1752365,nssv1752341,nssv1752414,nssv1752346,nssv1752358,nssv1752315,nssv1752363,nssv1752317,nssv1752379,nssv1752316,nssv1752413,nssv1752308,nssv1752359,nssv1752394,nssv1752405,nssv1752326,nssv1752372,nssv1752340,nssv1752381,nssv1752393,nssv1752384,nssv1752333,nssv1752376,nssv1752398,nssv1752377,nssv1752397,nssv1752406,nssv1752320,nssv1752407,nssv1752401,nssv1752404,nssv1752344,nssv1752360,nssv1752324,nssv1752387,nssv1752329,nssv1752391,nssv1752325,nssv1752355,nssv1752342,nssv1752371,nssv1752396,nssv1752385,nssv1752327,nssv1752369,nssv1752331,nssv1752362,nssv1752313,nssv1752408,nssv1752332,nssv1752357,nssv1752395,nssv1752354,nssv1752336,nssv1752374,nssv1752399,nssv1752410,nssv1752339,nssv1752350,nssv1752343,nssv1752409,nssv1752353 M 97 10 0 HNRNPCP5,PRAMEF23,PRAMEF5 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4043503 1 13103200 13109750 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847526 M 10847 0 1 PRAMEF23,PRAMEF5 nsv545538 1 13103575 13176463 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710214,nssv710215 M 17421 0 2 PRAMEF23,PRAMEF5 dgv136n54 1 13112332 13117481 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545540,nsv545539 M 17421 0 2 PRAMEF23,PRAMEF5 nsv945565 1 13112611 13114413 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572348,nssv2572362,nssv2572346,nssv2572723,nssv2572347,nssv2572726,nssv2572731,nssv2572351,nssv2572354,nssv2572375,nssv2572355,nssv2572374,nssv2572385,nssv2572353,nssv2572707,nssv2572372,nssv2572721,nssv2572732,nssv2572697,nssv2572367,nssv2572717,nssv2572368,nssv2572699,nssv2572364,nssv2572384,nssv2572380,nssv2572700,nssv2572370,nssv2572702,nssv2572361,nssv2572382,nssv2572357,nssv2572719,nssv2572376,nssv2572711,nssv2572725,nssv2572715,nssv2572365,nssv2572713,nssv2572379,nssv2572710,nssv2572377,nssv2572714,nssv2572350,nssv2572720,nssv2572369,nssv2572716,nssv2572728,nssv2572698,nssv2572349,nssv2572383,nssv2572371,nssv2572696,nssv2572727,nssv2572708,nssv2572378,nssv2572387,nssv2572373,nssv2572701,nssv2572352,nssv2572705,nssv2572730,nssv2572703,nssv2572724,nssv2572712,nssv2572360,nssv2572722,nssv2572363,nssv2572386,nssv2572356,nssv2572704,nssv2572381,nssv2572709,nssv2572359,nssv2572718,nssv2572345,nssv2572706,nssv2572366,nssv2572729,nssv2572358 M 97 10 0 PRAMEF23,PRAMEF5 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4045754 1 13113200 13146000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15845618 M 10847 0 1 PRAMEF5 esv3891081 1 13113724 13135428 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25783365,essv25784921 M 3017 0 2 PRAMEF5 nsv3319200 1 13117565 13117565 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475134,nssv14480675,nssv14472878,nssv14473316,nssv14491224,nssv14491880 M 14 6 0 PRAMEF5 HG00268,HG00733,HG02059,HG02106,HG02818,NA19434 dgv15e199 1 13119145 13141792 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2663624,esv2666826,esv2659331 M 1151 0 400 "" HG00403,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00559,HG00560,HG00565,HG00566,HG00577,HG00578,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00593,HG00595,HG00596,HG00607,HG00608,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00628,HG00629,HG00634,HG00635,HG00650,HG00651,HG00653,HG00654,HG00656,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00692,HG00693,HG00698,HG00699,HG00701,HG00705,HG00707,HG00708,HG01124,HG01125,HG01134,HG01136,HG01137,HG01140,HG01148,HG01149,HG01250,HG01251,HG01253,HG01342,HG01350,HG01351,HG01353,HG01357,HG01359,HG01360,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01383,HG01384,HG01389,HG01390,HG01437,HG01440,HG01441,HG01455,HG01461,HG01462,HG01489,HG01491,HG01492,HG01495,HG01498,HG01550,HG01551,NA06986,NA06989,NA06994,NA07000,NA07037,NA07048,NA07051,NA07056,NA07346,NA07347,NA10851,NA11829,NA11830,NA11831,NA11832,NA11881,NA11892,NA11894,NA11919,NA11920,NA11930,NA11931,NA11933,NA11992,NA11993,NA11994,NA12003,NA12044,NA12045,NA12046,NA12144,NA12154,NA12155,NA12156,NA12249,NA12272,NA12275,NA12286,NA12287,NA12341,NA12347,NA12348,NA12383,NA12399,NA12400,NA12716,NA12717,NA12750,NA12761,NA12763,NA12775,NA12776,NA12778,NA12813,NA12827,NA12828,NA12842,NA12843,NA18486,NA18489,NA18498,NA18499,NA18501,NA18502,NA18505,NA18507,NA18508,NA18516,NA18520,NA18522,NA18526,NA18532,NA18534,NA18535,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18555,NA18557,NA18558,NA18559,NA18560,NA18562,NA18563,NA18564,NA18566,NA18567,NA18570,NA18571,NA18572,NA18573,NA18574,NA18576,NA18577,NA18579,NA18592,NA18593,NA18595,NA18599,NA18602,NA18603,NA18605,NA18606,NA18608,NA18609,NA18610,NA18612,NA18614,NA18615,NA18617,NA18618,NA18619,NA18620,NA18621,NA18622,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18853,NA18858,NA18867,NA18868,NA18870,NA18907,NA18908,NA18910,NA18912,NA18916,NA18917,NA18924,NA18933,NA18940,NA18941,NA18942,NA18943,NA18944,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18961,NA18963,NA18964,NA18965,NA18967,NA18971,NA18972,NA18974,NA18976,NA18977,NA18980,NA18981,NA18982,NA18983,NA18984,NA18987,NA18989,NA18999,NA19000,NA19002,NA19004,NA19005,NA19007,NA19009,NA19010,NA19054,NA19055,NA19056,NA19058,NA19059,NA19060,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19083,NA19085,NA19087,NA19088,NA19093,NA19099,NA19108,NA19114,NA19119,NA19129,NA19138,NA19144,NA19152,NA19153,NA19160,NA19171,NA19189,NA19190,NA19198,NA19204,NA19213,NA19223,NA19225,NA19235,NA19648,NA19651,NA19652,NA19655,NA19661,NA19663,NA19664,NA19675,NA19678,NA19679,NA19681,NA19682,NA19685,NA19716,NA19717,NA19719,NA19722,NA19723,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19747,NA19750,NA19758,NA19761,NA19762,NA19770,NA19771,NA19776,NA19777,NA19780,NA19782,NA19783,NA19785,NA19788,NA19789 nsv4051481 1 13121600 13143100 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780801,nssv15780800,nssv15780803,nssv15780802 M 10847 0 0 "" nsv4037619 1 13133121 13133195 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846189 M 10847 0 1 "" nsv545541 1 13137578 13218946 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710218 M 17421 0 1 HNRNPCP5 nsv4516917 1 13138585 13138654 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846197 M 10847 0 1 "" dgv17n67 1 13142545 13188170 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv829470,nsv829492,nsv829481 M 31 6 0 HNRNPCP5 AK4,AK8,NA18564,NA18566,NA18592,NA18947 nsv1139472 1 13142600 13145200 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977059 M 2 1 0 "" KWS2 nsv545542 1 13142720 13174952 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710219 M 17421 0 1 "" nsv5418661 1 13143449 13217835 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894139 M 3202 1 0 HNRNPCP5 nsv4517077 1 13145450 13216000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846207 M 10847 0 1 HNRNPCP5 nsv4035153 1 13145500 13152000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780805,nssv15780804,nssv15780806,nssv15780807,nssv15780808,nssv15780809 M 10847 0 0 "" nsv4040905 1 13145500 13178000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846215 M 10847 0 1 "" dgv26n166 1 13146999 13197000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4037338,nsv4516803 M 10847 2 0 HNRNPCP5 esv3692979 1 13155393 13176463 CNV loss Palta_et_al_2015 25853576 SNP array essv16507192 M 199 0 1 "" NA19204 nsv4036818 1 13156000 13161100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846223 M 10847 0 1 "" nsv4561730 1 13156248 13156249 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027220 M 10847 1 0 "" nsv4041548 1 13158400 13165000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780814,nssv15780815,nssv15780813,nssv15780810,nssv15780812,nssv15780811 M 10847 0 0 "" nsv3536699 1 13159044 13159044 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392496 M 9 1 0 "" NA19240 nsv5605695 1 13159049 13159049 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060411 M 35 1 0 "" HG00171 nsv6042053 1 13159049 13159049 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535121 M 405 1 0 "" nsv3319201 1 13159074 13159074 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489057 M 14 1 0 "" NA19240 nsv112 1 13159771 13162302 CNV insertion Tuzun_et_al_2005 15895083 BAC aCGH,PCR,Sequencing nssv112 M 1 1 0 "" NA15510 nsv821333 1 13161724 13219695 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420214 M 1 1 0 HNRNPCP5 NA10851 nsv1149137 1 13163099 13168700 CNV duplication John_et_al_2014 26484159 Sequencing nssv4002647 M 1 1 0 "" KWB1 nsv5421328 1 13163855 13193833 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894140 M 3202 1 0 HNRNPCP5 nsv4044083 1 13164000 13172000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846230 M 10847 0 1 "" nsv1146025 1 13168899 13181700 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997389 M 1 1 0 "" KWB1 dgv16e212 1 13169606 13709344 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577736,esv3577739 M 873 0 2 HNRNPCP5,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 400930MK,401235IA nsv6106887 1 13169766 13183464 OTHER inversion Wu_et_al_2021 34764282 Sequencing nssv17536767 M 405 0 0 HNRNPCP5 nsv5423660 1 13170560 13178472 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894141 M 3202 0 1 "" nsv4518329 1 13171075 13178200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846239 M 10847 0 1 "" nsv6137938 1 13171756 13183510 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894156 M 3202 1 0 HNRNPCP5 nsv3543818 1 13171778 13189773 OTHER inversion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14456054,nssv14458727,nssv14458821,nssv14463369,nssv14463604,nssv14459728,nssv14455191 M 9 0 0 HNRNPCP5 HG00513,HG00514,HG00731,HG00732,HG00733,NA19239,NA19240 nsv5827857 1 13171834 13174727 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462967,nssv17464082 M 914 0 0 "" dgv82n223 1 13172769 13187673 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6326023,nsv6327876 M 19652 0 2 HNRNPCP5 nsv6334563 1 13173069 13177972 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051465 M 19652 0 1 "" nsv4560854 1 13173331 13173332 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026779 M 10847 1 0 "" nsv5427618 1 13173724 13173777 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894166 M 3202 1 0 "" nsv545543 1 13174109 13178497 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710220 M 17421 0 1 "" esv3577737 1 13174615 13186871 CNV loss Uddin_et_al_2014 25503493 SNP array essv9797310 M 873 0 1 HNRNPCP5 401792KR nsv5981140 1 13176066 13192070 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17518891 M 405 1 0 HNRNPCP5 nsv953504 1 13176501 13188000 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3001867 M 1 1 0 HNRNPCP5 BILGI_BIOE esv3585252 1 13176833 13182837 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9858878,essv9858886,essv9858867,essv9858885,essv9858875,essv9858883,essv9858870,essv9858880,essv9858864,essv9858879,essv9858877,essv9858881,essv9858872,essv9858882,essv9858865,essv9858884,essv9858868,essv9858852,essv9858860,essv9858869,essv9858842,essv9858862,essv9858871,essv9858853,essv9858859,essv9858863,essv9858843,essv9858858,essv9858876,essv9858848,essv9858857,essv9858866,essv9858847,essv9858861,essv9858874,essv9858850,essv9858873,essv9858856,essv9858836,essv9858840,essv9858832,essv9858854,essv9858835,essv9858846,essv9858830,essv9858845,essv9858831,essv9858844,essv9858833,essv9858851,essv9858834,essv9858839,essv9858837,essv9858855,essv9858827,essv9858841,essv9858829,essv9858849,essv9858828,essv9858838,essv9858826,essv9858825 M 2504 0 62 "" HG00118,HG00421,HG00478,HG00537,HG01190,HG01785,HG01808,HG01986,HG02090,HG02152,HG02325,HG02332,HG02419,HG02722,HG02728,HG02771,HG02839,HG02851,HG02881,HG02882,HG03040,HG03073,HG03077,HG03078,HG03081,HG03114,HG03247,HG03291,HG03313,HG03352,HG03457,HG03460,HG03514,HG03567,HG03663,HG03756,HG04002,NA12287,NA12815,NA18489,NA18877,NA18910,NA19026,NA19037,NA19093,NA19108,NA19129,NA19141,NA19189,NA19204,NA19214,NA19225,NA19319,NA19347,NA19379,NA19380,NA19385,NA19430,NA19446,NA19452,NA19700,NA19835 esv3585253 1 13176833 13182837 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9859258,essv9858916,essv9859254,essv9858907,essv9859256,essv9858905,essv9859249,essv9858901,essv9859264,essv9858888,essv9859268,essv9858889,essv9859266,essv9858908,essv9859245,essv9858890,essv9859260,essv9858904,essv9859244,essv9858902,essv9859255,essv9858909,essv9859261,essv9858906,essv9859275,essv9858911,essv9859272,essv9858891,essv9859246,essv9858912,essv9859270,essv9858892,essv9859252,essv9858893,essv9859263,essv9858894,essv9859262,essv9858910,essv9859274,essv9858914,essv9859253,essv9858895,essv9859273,essv9858915,essv9859265,essv9858903,essv9859267,essv9858899,essv9859259,essv9858896,essv9859271,essv9858897,essv9859276,essv9858913,essv9859248,essv9858898,essv9859269,essv9858887,essv9859251,essv9858900,essv9859247,essv9859088,essv9859108,essv9859250,essv9859082,essv9859100,essv9859257,essv9859089,essv9859091,essv9859080,essv9859112,essv9859078,essv9859102,essv9859071,essv9859135,essv9859075,essv9859099,essv9859077,essv9859136,essv9859068,essv9859094,essv9859087,essv9859144,essv9859070,essv9859117,essv9859083,essv9859130,essv9859079,essv9859104,essv9859084,essv9859101,essv9859090,essv9859109,essv9859069,essv9859103,essv9859076,essv9859110,essv9859085,essv9859121,essv9859086,essv9859116,essv9859073,essv9859139,essv9859074,essv9859105,essv9859081,essv9859123,essv9859072,essv9859124,essv9858932,essv9859093,essv9858969,essv9859137,essv9858931,essv9859098,essv9858929,essv9859129,essv9858936,essv9859107,essv9858923,essv9859119,essv9858959,essv9859122,essv9858941,essv9859114,essv9858921,essv9859097,essv9858946,essv9859133,essv9858928,essv9859128,essv9858968,essv9859138,essv9858950,essv9859134,essv9858918,essv9859118,essv9858930,essv9859141,essv9858965,essv9859131,essv9858972,essv9859127,essv9858956,essv9859120,essv9858964,essv9859145,essv9858926,essv9859132,essv9858919,essv9859126,essv9858948,essv9859113,essv9858920,essv9859143,essv9858944,essv9859095,essv9858970,essv9859125,essv9858960,essv9859096,essv9858951,essv9859115,essv9858957,essv9859092,essv9858943,essv9859106,essv9858933,essv9859140,essv9858958,essv9859142,essv9858961,essv9859111,essv9858940,essv9859184,essv9858917,essv9859166,essv9858937,essv9859220,essv9858953,essv9859147,essv9858952,essv9859200,essv9858939,essv9859170,essv9858938,essv9859234,essv9858949,essv9859162,essv9858955,essv9859240,essv9858925,essv9859148,essv9858935,essv9859212,essv9858947,essv9859198,essv9858924,essv9859230,essv9858922,essv9859174,essv9858942,essv9859214,essv9858962,essv9859146,essv9858934,essv9859171,essv9858927,essv9859232,essv9858966,essv9859186,essv9858967,essv9859238,essv9858963,essv9859179,essv9858971,essv9859191,essv9858954,essv9859150,essv9858945,essv9859185,essv9858988,essv9859208,essv9858984,essv9859224,essv9859039,essv9859222,essv9859031,essv9859160,essv9858990,essv9859195,essv9859053,essv9859211,essv9859012,essv9859242,essv9858998,essv9859151,essv9858978,essv9859190,essv9859045,essv9859223,essv9858981,essv9859218,essv9859009,essv9859206,essv9859047,essv9859188,essv9859064,essv9859217,essv9859059,essv9859229,essv9859062,essv9859152,essv9858994,essv9859215,essv9859019,essv9859221,essv9859005,essv9859183,essv9859000,essv9859153,essv9859037,essv9859169,essv9859004,essv9859157,essv9859032,essv9859225,essv9859024,essv9859204,essv9859063,essv9859210,essv9859054,essv9859231,essv9859007,essv9859199,essv9859013,essv9859213,essv9859030,essv9859168,essv9859055,essv9859158,essv9858989,essv9859187,essv9859034,essv9859228,essv9859033,essv9859239,essv9858979,essv9859226,essv9859040,essv9859189,essv9858983,essv9859236,essv9859050,essv9859196,essv9859036,essv9859243,essv9859021,essv9859237,essv9859015,essv9859181,essv9859067,essv9859172,essv9859061,essv9859180,essv9858995,essv9859192,essv9858980,essv9859227,essv9859011,essv9859194,essv9859044,essv9859164,essv9859003,essv9859173,essv9859041,essv9859203,essv9859066,essv9859235,essv9859048,essv9859207,essv9859020,essv9859219,essv9859065,essv9859165,essv9858993,essv9859161,essv9859035,essv9859175,essv9859025,essv9859209,essv9858996,essv9859163,essv9858982,essv9859176,essv9859008,essv9859233,essv9859010,essv9859156,essv9858999,essv9859155,essv9859057,essv9859193,essv9859001,essv9859241,essv9859029,essv9859149,essv9859056,essv9859182,essv9859051,essv9859177,essv9859017,essv9859202,essv9859028,essv9859154,essv9859049,essv9859159,essv9858977,essv9859167,essv9859016,essv9859216,essv9858976,essv9859205,essv9858974,essv9859201,essv9858973,essv9859178,essv9859046,essv9859197,essv9858991,essv9859002,essv9859060,essv9858987,essv9859052,essv9859023,essv9858986,essv9859014,essv9858985,essv9859026,essv9859038,essv9859022,essv9859042,essv9858975,essv9859018,essv9858997,essv9858992,essv9859027,essv9859058,essv9859006,essv9859043 M 2504 390 0 "" HG00130,HG00146,HG00148,HG00157,HG00183,HG00188,HG00189,HG00238,HG00252,HG00282,HG00285,HG00308,HG00331,HG00334,HG00339,HG00342,HG00351,HG00375,HG00376,HG00406,HG00409,HG00410,HG00422,HG00436,HG00442,HG00446,HG00452,HG00457,HG00458,HG00472,HG00475,HG00476,HG00500,HG00513,HG00525,HG00530,HG00531,HG00543,HG00559,HG00560,HG00566,HG00581,HG00592,HG00593,HG00599,HG00614,HG00620,HG00622,HG00623,HG00626,HG00631,HG00632,HG00634,HG00641,HG00656,HG00662,HG00663,HG00671,HG00675,HG00692,HG00693,HG00699,HG00704,HG00705,HG00707,HG00728,HG00729,HG00766,HG00864,HG00867,HG00879,HG00982,HG01105,HG01130,HG01136,HG01281,HG01351,HG01356,HG01375,HG01447,HG01500,HG01515,HG01596,HG01597,HG01598,HG01600,HG01680,HG01709,HG01710,HG01766,HG01768,HG01783,HG01786,HG01794,HG01795,HG01797,HG01800,HG01801,HG01805,HG01809,HG01812,HG01815,HG01816,HG01840,HG01842,HG01844,HG01846,HG01847,HG01849,HG01850,HG01851,HG01852,HG01853,HG01855,HG01858,HG01860,HG01865,HG01866,HG01867,HG01868,HG01870,HG01872,HG01873,HG01874,HG01879,HG01915,HG01950,HG02012,HG02016,HG02017,HG02019,HG02020,HG02029,HG02032,HG02051,HG02058,HG02067,HG02069,HG02072,HG02073,HG02079,HG02081,HG02082,HG02086,HG02116,HG02121,HG02122,HG02127,HG02128,HG02133,HG02137,HG02138,HG02140,HG02153,HG02154,HG02156,HG02164,HG02165,HG02178,HG02180,HG02181,HG02182,HG02185,HG02187,HG02188,HG02221,HG02250,HG02351,HG02356,HG02360,HG02379,HG02380,HG02391,HG02392,HG02395,HG02397,HG02398,HG02408,HG02409,HG02449,HG02462,HG02491,HG02512,HG02522,HG02537,HG02601,HG02643,HG02661,HG02725,HG02786,HG02840,HG02861,HG02895,HG02982,HG03016,HG03021,HG03055,HG03060,HG03189,HG03195,HG03228,HG03235,HG03240,HG03452,HG03490,HG03491,HG03548,HG03640,HG03667,HG03672,HG03679,HG03680,HG03691,HG03697,HG03705,HG03717,HG03720,HG03738,HG03742,HG03753,HG03760,HG03770,HG03771,HG03773,HG03777,HG03785,HG03787,HG03792,HG03800,HG03857,HG03858,HG03872,HG03884,HG03894,HG03896,HG03916,HG03926,HG03941,HG03953,HG03969,HG03971,HG03973,HG04025,HG04026,HG04039,HG04056,HG04096,HG04146,HG04152,HG04176,HG04182,HG04211,HG04219,NA06989,NA07056,NA11920,NA11930,NA12003,NA12347,NA12761,NA18526,NA18531,NA18534,NA18535,NA18536,NA18539,NA18541,NA18543,NA18550,NA18553,NA18555,NA18557,NA18560,NA18563,NA18564,NA18565,NA18566,NA18570,NA18573,NA18574,NA18577,NA18579,NA18592,NA18596,NA18602,NA18603,NA18606,NA18609,NA18610,NA18612,NA18616,NA18617,NA18619,NA18621,NA18622,NA18623,NA18624,NA18625,NA18626,NA18628,NA18629,NA18631,NA18635,NA18636,NA18638,NA18639,NA18642,NA18644,NA18645,NA18647,NA18740,NA18745,NA18748,NA18940,NA18941,NA18946,NA18947,NA18950,NA18952,NA18957,NA18961,NA18964,NA18969,NA18971,NA18972,NA18977,NA18978,NA18982,NA18984,NA18990,NA18994,NA18995,NA18998,NA19000,NA19001,NA19002,NA19005,NA19056,NA19058,NA19059,NA19065,NA19067,NA19075,NA19076,NA19079,NA19080,NA19083,NA19084,NA19085,NA19088,NA19089,NA19090,NA19091,NA19096,NA19190,NA19307,NA19321,NA19438,NA19466,NA19684,NA19779,NA19789,NA19923,NA20513,NA20542,NA20760,NA20801,NA20802,NA20818,NA20851,NA20852,NA20853,NA20856,NA20861,NA20877,NA20878,NA20895,NA20896,NA20906,NA21088,NA21093,NA21099,NA21102,NA21113,NA21115,NA21122,NA21128,NA21129,NA21130,NA21137 nsv5426396 1 13177472 13182672 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894177 M 3202 1 0 "" dgv83n223 1 13177473 13182872 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6319715,nsv6333659 M 19652 2 0 "" nsv6334916 1 13177777 13186475 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051467 M 19652 0 1 HNRNPCP5 nsv4432943 1 13178001 13184000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15747885,nssv15750907,nssv15745940,nssv15752352,nssv15754439 M 15 5 0 HNRNPCP5 NB07,NB10,NB11,NB12,SMI018 nsv4432944 1 13178001 13188000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15753918 M 15 1 0 HNRNPCP5 NB09 nsv5561157 1 13178012 13178057 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895113 M 3202 1 0 "" nsv5612278 1 13178057 13178057 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060413 M 35 1 0 "" HG01596 nsv5726417 1 13178057 13178057 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17250524 M 3202 1 0 "" nsv1075775 1 13178099 13183600 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3763367 M 1 1 0 HNRNPCP5 KWP1 nsv3112749 1 13178170 13189852 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14094421,nssv14087577,nssv14089737 M 467 0 3 HNRNPCP5 sample24,sample3,sample310 nsv6331014 1 13178336 13187255 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200070 M 19652 1 0 HNRNPCP5 esv3577740 1 13178372 13186871 CNV loss Uddin_et_al_2014 25503493 SNP array essv9797532 M 873 0 1 HNRNPCP5 401623SN nsv1005416 1 13178373 13444670 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473590 M 11257 0 1 HNRNPCP5,PRAMEF15,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 dgv137n54 1 13178497 13219371 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545544,nsv545545 M 17421 0 2 HNRNPCP5 esv2743964 1 13178707 13187803 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6885979,essv6682822,essv6859185,essv6950185,essv6885980,essv6839967,essv6874700,essv6669177,essv6877662,essv6682823,essv6880416,essv6692756,essv6863954,essv6937674,essv6871710,essv6847011,essv6889003,essv6784543,essv6889002,essv6847010,essv6880415,essv6906094,essv6859184,essv6906095,essv6868706,essv6729614,essv6868707,essv6709708,essv6784990,essv6748298,essv6916651,essv6836182,essv6722002,essv6718162,essv6707261,essv6824978,essv6747773,essv6824977,essv6689253,essv6686150,essv6821178,essv6789145,essv6797444,essv6695632,essv6742135,essv6843880,essv6735974,essv6946491,essv6917419,essv6913995,essv6797445,essv6725847,essv6843809,essv6761849,essv6946490,essv6689255,essv6759038,essv6807372,essv6972334,essv6750592,essv6696986,essv6807371,essv6669188,essv6801614,essv6725846,essv6921712,essv6714239,essv6679163,essv6933299,essv6793279,essv6764157,essv6876754,essv6753491,essv6853232,essv6703859,essv6910036,essv6902526,essv6668945 M 96 0 63 HNRNPCP5 SSM001,SSM003,SSM004,SSM005,SSM006,SSM008,SSM009,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM021,SSM022,SSM024,SSM029,SSM031,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM040,SSM041,SSM043,SSM044,SSM045,SSM046,SSM047,SSM050,SSM053,SSM056,SSM057,SSM058,SSM061,SSM062,SSM063,SSM069,SSM070,SSM071,SSM072,SSM073,SSM075,SSM079,SSM080,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM096,SSM097 esv8453 1 13178721 13187916 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30894 M 1 0 0 HNRNPCP5 esv3585255 1 13178772 13187474 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9859508,essv9859528,essv9859506,essv9859543,essv9859529,essv9859507,essv9859544,essv9859527,essv9859545,essv9859526,essv9859524,essv9859510,essv9859515,essv9859511,essv9859516,essv9859513,essv9859517,essv9859514,essv9859518,essv9859509,essv9859525,essv9859512,essv9859522,essv9859541,essv9859520,essv9859531,essv9859521,essv9859542,essv9859519,essv9859532,essv9859523,essv9859534,essv9859540,essv9859539,essv9859535,essv9859530,essv9859536,essv9859537,essv9859533,essv9859538 M 2504 0 40 HNRNPCP5 HG00118,HG00421,HG00478,HG01808,HG01986,HG02318,HG02325,HG02332,HG02419,HG02728,HG02771,HG02882,HG03040,HG03073,HG03077,HG03078,HG03081,HG03114,HG03247,HG03460,HG03514,HG03567,HG03663,HG03756,NA12815,NA18489,NA18877,NA18910,NA19026,NA19037,NA19093,NA19108,NA19189,NA19204,NA19214,NA19225,NA19347,NA19446,NA19700,NA19835 nsv1122300 1 13178772 13187493 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985266,nssv3967969 M 2 0 2 HNRNPCP5 KWS1,KWS2 esv2675846 1 13178772 13187516 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6192563,essv6316601,essv6055049,essv5598686,essv6212375,essv5829847,essv5583076,essv5550447,essv5492472,essv6220028,essv6508438,essv6552450,essv5831266,essv6451370 M 1151 0 14 HNRNPCP5 HG00537,NA07357,NA10851,NA11918,NA18489,NA18593,NA19093,NA19099,NA19108,NA19147,NA19225,NA19835,NA20522,NA20529 nsv5827858 1 13178848 13182790 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455453,nssv17468874,nssv17459417 M 914 0 0 "" nsv5429668 1 13179039 13187651 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895115 M 3202 0 1 HNRNPCP5 nsv6334636 1 13179173 13182572 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200071 M 19652 1 0 "" nsv6545045 1 13179633 13180180 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249923 M 19652 0 0 "" nsv3319203 1 13180915 13180915 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486513 M 14 1 0 "" NA19240 esv2743975 1 13181668 13201143 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6889004 M 96 0 1 HNRNPCP5 SSM097 nsv1150505 1 13181999 13199200 CNV duplication John_et_al_2014 26484159 Sequencing nssv3995980 M 1 1 0 HNRNPCP5 KWB1 esv3416903 1 13182365 13182763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691778 M 185 1 0 "" NA12878 esv3585256 1 13182563 13196202 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9859549,essv9859594,essv9859548,essv9859592,essv9859550,essv9859597,essv9859546,essv9859576,essv9859598,essv9859547,essv9859574,essv9859596,essv9859567,essv9859595,essv9859575,essv9859593,essv9859579,essv9859590,essv9859573,essv9859600,essv9859561,essv9859599,essv9859559,essv9859588,essv9859569,essv9859601,essv9859563,essv9859591,essv9859577,essv9859589,essv9859571,essv9859551,essv9859578,essv9859556,essv9859562,essv9859558,essv9859570,essv9859554,essv9859565,essv9859553,essv9859568,essv9859555,essv9859564,essv9859557,essv9859560,essv9859552,essv9859566,essv9859607,essv9859572,essv9859602,essv9859584,essv9859608,essv9859581,essv9859604,essv9859587,essv9859609,essv9859580,essv9859603,essv9859582,essv9859605,essv9859586,essv9859606,essv9859585,essv9859583 M 2504 0 64 HNRNPCP5 HG00118,HG00421,HG00478,HG00537,HG01190,HG01785,HG01808,HG01986,HG02152,HG02325,HG02332,HG02339,HG02419,HG02728,HG02771,HG02839,HG02851,HG02881,HG02882,HG02922,HG03040,HG03073,HG03077,HG03078,HG03081,HG03114,HG03247,HG03291,HG03313,HG03352,HG03354,HG03380,HG03457,HG03460,HG03514,HG03567,HG03663,HG03756,HG04002,HG04018,HG04225,NA12287,NA12815,NA18489,NA18877,NA18910,NA19026,NA19037,NA19093,NA19108,NA19141,NA19189,NA19204,NA19214,NA19225,NA19347,NA19378,NA19385,NA19430,NA19446,NA19452,NA19700,NA19835,NA20281 esv3585257 1 13182563 13196202 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9859613,essv9859621,essv9859611,essv9859618,essv9859610,essv9859619,essv9859612,essv9859617,essv9859625,essv9859622,essv9859620,essv9859626,essv9859624,essv9859615,essv9859623,essv9859614,essv9859616 M 2504 17 0 HNRNPCP5 HG01709,HG01801,HG01865,HG02408,HG02537,HG03021,HG03228,HG03693,HG03760,HG03823,HG03941,HG03971,NA18542,NA19307,NA19321,NA19438,NA19466 nsv6321195 1 13183473 13186973 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051468 M 19652 0 1 HNRNPCP5 nsv5423246 1 13183856 13190473 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895116 M 3202 1 0 HNRNPCP5 nsv4034667 1 13184000 13191000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846248 M 10847 0 1 HNRNPCP5 nsv6327178 1 13184473 13190173 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200072 M 19652 1 0 "" nsv4046638 1 13185600 13194600 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963026 M 10847 1 0 "" nsv1004373 1 13185726 13471933 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3698784 M 11257 1 0 PRAMEF13,PRAMEF15,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv6327423 1 13186073 13187673 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051469 M 19652 0 1 "" nsv5565561 1 13186235 13187204 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060414 M 35 0 1 "" HG01596 esv3430112 1 13186365 13188063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691779 M 185 1 0 "" NA12878 nsv5724411 1 13186651 13186651 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17241664 M 3202 1 0 "" nsv5604573 1 13187243 13187243 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060415 M 35 1 0 "" HG01596 nsv4563049 1 13187275 13187276 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026787 M 10847 1 0 "" nsv5581544 1 13187395 13187454 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060416 M 35 0 1 "" HG01596 nsv5619697 1 13188109 13188109 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060417 M 35 1 0 "" HG01596 nsv6319095 1 13188174 13190173 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200073 M 19652 1 0 "" nsv5566685 1 13188305 13188487 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060418 M 35 0 1 "" HG01596 nsv3319839 1 13189140 13189140 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477509,nssv14472474 M 14 2 0 "" HG02059,HX1 nsv4569216 1 13189340 13189815 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788985 M 10847 0 0 "" nsv5584251 1 13189803 13189933 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060419 M 35 0 1 "" NA12878 nsv4511717 1 13195950 13207000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780817,nssv15780821,nssv15780820,nssv15780819,nssv15780818,nssv15780822,nssv15780816 M 10847 0 0 "" nsv1075776 1 13199499 13204600 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3771045 M 1 1 0 "" KWP1 nsv1149698 1 13199599 13205800 CNV duplication John_et_al_2014 26484159 Sequencing nssv4000997 M 1 1 0 "" KWB1 esv3658740 1 13201566 13201777 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465178 M 20 0 1 "" nsv4518059 1 13201923 13202084 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847534 M 10847 0 1 "" nsv5609077 1 13202638 13202638 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060420 M 35 1 0 "" HG03683 nsv6045584 1 13202638 13202638 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521345 M 405 1 0 "" nsv3319840 1 13202639 13202639 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480224,nssv14480386 M 14 2 0 "" CHM13,NA19240 nsv5577769 1 13205652 13205733 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060421 M 35 0 1 "" NA12878 nsv1153647 1 13207099 13219900 CNV duplication John_et_al_2014 26484159 Sequencing nssv4002298 M 1 1 0 "" KWB1 nsv1124561 1 13207200 13219700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976615 M 2 1 0 "" KWS2 nsv4511766 1 13209850 13216450 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780829,nssv15780827,nssv15780828,nssv15780824,nssv15780826,nssv15780823,nssv15780825 M 10847 0 0 "" nsv953505 1 13209901 13219900 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3001878 M 1 1 0 "" BILGI_BIOE nsv1075365 1 13211499 13213200 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3770942 M 1 1 0 "" KWP1 esv987716 1 13211906 13219912 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586238 M 3 1 0 "" HuRef esv3397866 1 13216065 13219763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691780 M 185 1 0 "" NA12878 nsv1076316 1 13216299 13219900 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3770054 M 1 1 0 "" KWP1 nsv5573272 1 13219129 13219219 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060410 M 35 0 1 "" NA19240 nsv3205783 1 13319913 13692128 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14253864,nssv14253866,nssv14253865,nssv14253867 M 9 0 4 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 HG00513,HG00731,HG00732,NA19238 nsv545546 1 13320001 13323364 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710223 M 17421 0 1 "" dgv138n54 1 13320001 13324817 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545553,nsv545549,nsv545548,nsv545547,nsv545555,nsv545557 M 17421 0 11 "" dgv139n54 1 13320001 13326064 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545550,nsv545558 M 17421 3 0 "" dgv140n54 1 13320001 13326401 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545551,nsv545554,nsv545556 M 17421 0 3 "" esv1000242 1 13320001 13368854 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586500 M 3 1 0 PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6 HuRef esv25471 1 13320047 13499446 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv17976,esv16485,esv12763,esv12571,esv20457,esv18416,esv12877,esv18444,esv17726,esv15096,esv10590,esv17055 M 40 34 11 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv545552 1 13320359 13324097 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710237,nssv710236,nssv710234,nssv710235 M 17421 1 3 "" nsv1075590 1 13326099 13374900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772153 M 1 0 1 PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6 KWP1 nsv953507 1 13326101 13336400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001900 M 1 0 1 PRAMEF22,PRAMEF3 BILGI_BIOE nsv6053738 1 13326161 13326161 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522427 M 405 1 0 "" nsv3319841 1 13326379 13355721 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14480840 M 14 1 0 PRAMEF22,PRAMEF3 HG02106 nsv6138531 1 13326379 13634776 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895143 M 3202 1 0 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv945778 1 13327331 13389874 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752426,nssv1752481,nssv1752418,nssv1752511,nssv1752416,nssv1752515,nssv1752508,nssv1752517,nssv1752425,nssv1752480,nssv1752417,nssv1752471,nssv1752439,nssv1752462,nssv1752420,nssv1752467,nssv1752438,nssv1752492,nssv1752437,nssv1752457,nssv1752454,nssv1752461,nssv1752442,nssv1752470,nssv1752429,nssv1752460,nssv1752509,nssv1752485,nssv1752449,nssv1752494,nssv1752436,nssv1752497,nssv1752502,nssv1752513,nssv1752421,nssv1752487,nssv1752445,nssv1752458,nssv1752456,nssv1752465,nssv1752507,nssv1752474,nssv1752427,nssv1752475,nssv1752504,nssv1752459,nssv1752424,nssv1752469,nssv1752452,nssv1752516,nssv1752423,nssv1752463,nssv1752503,nssv1752473,nssv1752500,nssv1752489,nssv1752501,nssv1752476,nssv1752506,nssv1752472,nssv1752446,nssv1752520,nssv1752448,nssv1752482,nssv1752431,nssv1752498,nssv1752415,nssv1752479,nssv1752428,nssv1752486,nssv1752450,nssv1752491,nssv1752505,nssv1752468,nssv1752451,nssv1752478,nssv1752453,nssv1752495,nssv1752430,nssv1752464,nssv1752432,nssv1752496,nssv1752440,nssv1752483,nssv1752434,nssv1752490,nssv1752419,nssv1752512,nssv1752435,nssv1752484,nssv1752443,nssv1752493,nssv1752447,nssv1752518,nssv1752441,nssv1752519,nssv1752514 M 97 10 0 PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6318878 1 13329902 13626393 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200075 M 19652 1 0 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv5827652 1 13329944 13333065 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455711,nssv17453617 M 914 0 0 PRAMEF22,PRAMEF3 nsv6328434 1 13330002 13382910 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200076 M 19652 1 0 PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6 nsv5613634 1 13330030 13330030 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060429 M 35 1 0 PRAMEF22,PRAMEF3 HG00732 nsv6049707 1 13330030 13330030 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533385 M 405 1 0 PRAMEF22,PRAMEF3 nsv2800768 1 13330089 13330089 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682614 M 2 1 0 PRAMEF22,PRAMEF3 nsv3319842 1 13330089 13330089 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474813,nssv14487548,nssv14490245,nssv14479011,nssv14486038,nssv14478486 M 14 6 0 PRAMEF22,PRAMEF3 CHM13,HG00268,HG00514,HX1,NA19240,NA19434 nsv6326398 1 13330135 13696969 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200077 M 19652 1 0 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv832981 1 13330166 13517412 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442807 M 95 0 1 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF22,PRAMEF23,PRAMEF3,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv5880311 1 13333459 13333531 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349807 M 914 0 1 "" nsv5827653 1 13333474 13341269 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466106,nssv17457197 M 914 0 0 "" nsv5827762 1 13333475 13337981 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462374,nssv17450962 M 914 0 0 "" nsv6541361 1 13333849 13334109 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249924 M 19652 0 0 "" nsv6547921 1 13334190 13335222 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249925 M 19652 0 0 "" nsv5432067 1 13335057 13335375 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895154 M 3202 0 1 "" nsv3199660 1 13335480 13702693 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14335449 M 9 1 0 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF23,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA19239 nsv6137877 1 13335486 13702476 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894562 M 3202 1 0 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF23,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv6334565 1 13336562 13346239 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200078 M 19652 1 0 "" dgv24n209 1 13336718 13711439 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5885687,nsv5886072,nsv5879679,nsv5871474 M 914 0 4 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF23,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv5580313 1 13338234 13339471 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060430 M 35 0 1 "" HG03683 nsv6555319 1 13338238 13338906 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249926 M 19652 0 0 "" nsv1130946 1 13339000 13339600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967643 M 2 0 1 "" KWS2 nsv5421521 1 13339961 13346006 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894573 M 3202 0 0 "" nsv3319843 1 13339978 13355621 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14477531,nssv14486493 M 14 2 0 "" HG00268,HG02059 nsv4038448 1 13340000 13354300 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847573 M 10847 0 1 "" nsv511155 1 13340066 13345819 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626055 M 1 0 1 "" 1 nsv6549421 1 13340483 13342723 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249927 M 19652 0 0 "" nsv5583532 1 13340536 13341167 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060431 M 35 0 1 "" HG03683 nsv3063684 1 13340536 13341208 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14037925 M 2 0 1 "" NA12878 nsv6539171 1 13340557 13340866 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249928 M 19652 0 0 "" nsv5885497 1 13340925 13346321 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364392 M 914 0 1 "" nsv2800464 1 13340927 13346323 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13692334 M 2 0 1 "" nsv3319395 1 13340927 13346323 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473184,nssv14482288,nssv14472916 M 14 0 3 "" CHM13,HG00514,HX1 nsv5428896 1 13340953 13346322 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894584 M 3202 0 1 "" nsv5827969 1 13340970 13346347 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17449779,nssv17455227,nssv17464043 M 914 0 0 "" nsv5827654 1 13340971 13344554 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454952,nssv17460751,nssv17469234 M 914 0 0 "" nsv5981141 1 13341185 13346311 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533732 M 405 0 1 "" nsv5570082 1 13341231 13341295 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060432 M 35 0 1 "" NA20847 nsv5567820 1 13341664 13346518 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060433 M 35 0 1 "" NA24385 nsv545559 1 13341911 13345565 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710245 M 17421 0 1 "" nsv6324003 1 13342160 13344517 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200079 M 19652 1 0 "" nsv472969 1 13342835 13342835 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012443 M 9 1 0 "" NA19129 nsv5608233 1 13343511 13343511 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060434 M 35 1 0 "" HG03683 nsv3056054 1 13343513 13343513 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020291 M 2 1 0 "" NA12878 nsv6543767 1 13343814 13344626 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249929 M 19652 0 0 "" nsv6554355 1 13344089 13344301 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249930 M 19652 0 0 "" nsv5572957 1 13344326 13344641 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060435 M 35 0 1 "" HG01505 nsv5610207 1 13345289 13345289 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060437 M 35 1 0 "" HG03683 nsv3172457 1 13345289 13345389 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438740 M 9 0 0 "" HG00733 nsv6138257 1 13345289 13345401 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894595 M 3202 1 0 "" esv3657891 1 13345323 13345375 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16481305 M 20 0 0 "" nsv6043842 1 13345379 13345379 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534948 M 405 1 0 "" nsv5571205 1 13345471 13345515 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060438 M 35 0 1 "" HG00512 nsv5874357 1 13345471 13345515 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351482 M 914 0 1 "" nsv5980825 1 13345471 13345516 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536984 M 405 0 1 "" nsv5827970 1 13345791 13350080 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467247,nssv17459742 M 914 0 0 "" nsv6328965 1 13346423 13354921 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200080 M 19652 1 0 "" nsv5567776 1 13346868 13346968 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060439 M 35 0 1 "" NA24385 nsv821207 1 13347012 13429392 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420225 M 1 0 1 PRAMEF15,PRAMEF23,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 NA10851 nsv953508 1 13347401 13379800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3001911 M 1 0 1 PRAMEF23,PRAMEF5,PRAMEF6 BILGI_BIOE nsv5692433 1 13348070 13348070 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17174184,nssv17205646 M 3202 2 0 "" nsv5569359 1 13348115 13348591 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060442 M 35 0 1 "" HG03683 nsv6551318 1 13348698 13349528 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249931 M 19652 0 0 "" nsv4049121 1 13349000 13354000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780830,nssv15780835,nssv15780831,nssv15780834,nssv15780832,nssv15780833 M 10847 0 0 "" nsv5827763 1 13350452 13354663 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456585,nssv17451114 M 914 0 0 "" nsv5873001 1 13352592 13352687 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357732 M 914 0 1 "" nsv6138389 1 13352715 13374005 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894606 M 3202 0 1 PRAMEF23,PRAMEF5,PRAMEF6 esv2743986 1 13353537 13497497 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6784554,essv6800932,essv6748309,essv6742136,essv6816577,essv6853233,essv6917421 M 96 0 7 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF23,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 SSM002,SSM008,SSM009,SSM017,SSM053,SSM078,SSM087 nsv5421126 1 13354004 13828839 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894608 M 3202 0 1 LRRC38,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF23,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv1136064 1 13354100 13357800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989670 M 2 0 1 "" KWS2 nsv5575867 1 13354709 13354758 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060443 M 35 0 1 "" HG03732 nsv5981046 1 13354731 13354836 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523298 M 405 0 1 "" nsv5980980 1 13355272 13722339 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521619 M 405 0 1 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF23,PRAMEF5,PRAMEF6,PRAMEF7,PRAMEF8,PRAMEF9 nsv5575632 1 13359541 13361700 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060444 M 35 0 1 PRAMEF5,PRAMEF6 HG03732 nsv3319206 1 13360134 13362295 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483573 M 14 0 1 PRAMEF5,PRAMEF6 HG04217 nsv5682625 1 13366390 13366390 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205647 M 3202 1 0 PRAMEF23,PRAMEF5,PRAMEF6 nsv6137948 1 13368006 13374005 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894609 M 3202 0 1 PRAMEF23,PRAMEF5,PRAMEF6 nsv6138793 1 13368006 13377994 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894611 M 3202 1 0 PRAMEF23,PRAMEF5,PRAMEF6 esv2665484 1 13368345 13375092 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6282087,essv6288394,essv5820341,essv6344402,essv6096804,essv5652728,essv5805042,essv5696953,essv6514155,essv6168348,essv6020722,essv5506822,essv6461686,essv5494076,essv6431464,essv5941913,essv5430477,essv5573162,essv6436500,essv5974248,essv6138136,essv6591719,essv5815259,essv5703881,essv5959523,essv5882418,essv6410534,essv5444057,essv6333942,essv6560799,essv6087877,essv6225081,essv5463844,essv5525648,essv5775135,essv5716590,essv5921103,essv5497301,essv5901173,essv6092066,essv5615380,essv5435009,essv6365909,essv5691512,essv5783116,essv5691405,essv6004250,essv5893957,essv5430621,essv5773314,essv5925897,essv6444431,essv5863970,essv5460337,essv5968831,essv5518347,essv5833750,essv5591357,essv5522244,essv5452069,essv6525145,essv6475366,essv5555972,essv6122402,essv5650208 M 1151 0 65 PRAMEF23,PRAMEF5,PRAMEF6 NA06984,NA06986,NA06989,NA06994,NA07037,NA07048,NA07056,NA07346,NA07347,NA07357,NA10851,NA11829,NA11830,NA11831,NA11832,NA11843,NA11881,NA11892,NA11893,NA11894,NA11919,NA11920,NA11930,NA11931,NA11932,NA11933,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12006,NA12043,NA12044,NA12045,NA12046,NA12058,NA12144,NA12154,NA12155,NA12156,NA12272,NA12273,NA12275,NA12286,NA12287,NA12340,NA12341,NA12347,NA12348,NA12383,NA12399,NA12413,NA12546,NA12716,NA12717,NA12750,NA12751,NA12761,NA12763,NA12776,NA12778,NA12813,NA12828 dgv40n106 1 13368500 13374400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1142746,nsv1121751 M 2 0 2 PRAMEF23,PRAMEF5,PRAMEF6 KWS1,KWS2 nsv1008245 1 13375333 13471933 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464507,nssv3698785,nssv3467514,nssv3470297,nssv3477492,nssv3470021 M 11257 1 5 PRAMEF13,PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 nsv998907 1 13375333 13804575 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479561 M 11257 1 0 LRRC38,PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 esv2762131 1 13375345 13377047 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005005 M 1109 0 1 "" RW_0543 nsv5432382 1 13379994 13615895 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894612 M 3202 0 1 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 nsv6138552 1 13381994 13608780 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894613 M 3202 1 0 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 nsv1075595 1 13384199 13417700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769560 M 1 0 1 PRAMEF7,PRAMEF8 KWP1 nsv953509 1 13384301 13443700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003030 M 1 0 1 PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 BILGI_BIOE nsv4037064 1 13384750 13419500 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847642 M 10847 0 1 PRAMEF7,PRAMEF8 nsv4537835 1 13384910 13384911 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026796 M 10847 1 0 "" nsv4537650 1 13384918 13384919 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026807 M 10847 1 0 "" nsv4518265 1 13384918 13384984 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963027 M 10847 1 0 "" nsv5535177 1 13384984 13385015 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894615 M 3202 1 0 "" dgv41n106 1 13388600 13418000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1112522,nsv1142747 M 2 0 2 PRAMEF7,PRAMEF8 KWS1,KWS2 nsv945779 1 13389874 13390374 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753531,nssv1753504,nssv1752524,nssv1753509,nssv1752525,nssv1753505,nssv1752533,nssv1753508,nssv1752523,nssv1753514,nssv1752531,nssv1753494,nssv1752548,nssv1753516,nssv1752541,nssv1753513,nssv1752550,nssv1753517,nssv1752536,nssv1753502,nssv1753529,nssv1753515,nssv1752534,nssv1753499,nssv1752561,nssv1753520,nssv1752538,nssv1753497,nssv1752527,nssv1753512,nssv1752529,nssv1753496,nssv1752528,nssv1753501,nssv1752530,nssv1752563,nssv1752551,nssv1753518,nssv1753523,nssv1753493,nssv1753532,nssv1753503,nssv1752552,nssv1752567,nssv1752542,nssv1753507,nssv1752539,nssv1753510,nssv1753524,nssv1752564,nssv1752522,nssv1753506,nssv1752562,nssv1753498,nssv1752546,nssv1753492,nssv1753528,nssv1752566,nssv1752556,nssv1753519,nssv1752553,nssv1753521,nssv1753530,nssv1753495,nssv1752544,nssv1752537,nssv1753526,nssv1752545,nssv1752535,nssv1752540,nssv1752560,nssv1752557,nssv1752526,nssv1752558,nssv1752555,nssv1753525,nssv1752547,nssv1752559,nssv1752549,nssv1753527 M 97 10 0 PRAMEF7,PRAMEF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945780 1 13390374 13528289 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753536,nssv1752847,nssv1752846,nssv1753560,nssv1753537,nssv1752842,nssv1753545,nssv1753565,nssv1753543,nssv1752843,nssv1753535,nssv1752844,nssv1753575,nssv1753571,nssv1753579,nssv1753550,nssv1753607,nssv1753549,nssv1752856,nssv1753570,nssv1753600,nssv1753557,nssv1753609,nssv1753573,nssv1752848,nssv1753552,nssv1753586,nssv1753568,nssv1753583,nssv1753618,nssv1752854,nssv1753558,nssv1753602,nssv1753554,nssv1752852,nssv1753620,nssv1753614,nssv1753539,nssv1753597,nssv1753542,nssv1753596,nssv1753563,nssv1753592,nssv1753569,nssv1753582,nssv1753564,nssv1753616,nssv1753548,nssv1753608,nssv1753541,nssv1753601,nssv1753574,nssv1753613,nssv1753534,nssv1753606,nssv1753546,nssv1753585,nssv1753538,nssv1753603,nssv1753572,nssv1753578,nssv1753540,nssv1752849,nssv1753622,nssv1753576,nssv1753619,nssv1752857,nssv1753553,nssv1753593,nssv1753562,nssv1753580,nssv1753547,nssv1753584,nssv1752845,nssv1753604,nssv1753559,nssv1753589,nssv1753561,nssv1753617,nssv1753551,nssv1753612,nssv1753556,nssv1752850,nssv1753567,nssv1753590,nssv1753581,nssv1753595,nssv1753615,nssv1753594,nssv1753598,nssv1752855,nssv1753587,nssv1753591,nssv1753605,nssv1752851,nssv1753611,nssv1752853 M 97 10 0 PRAMEF13,PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv1001235 1 13417051 13475340 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586342 M 3 1 0 PRAMEF13,PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef nsv945566 1 13417179 13420448 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2572782,nssv2572752,nssv2572798,nssv2572741,nssv2572800,nssv2572808,nssv2572802,nssv2572766,nssv2572786,nssv2572770,nssv2572791,nssv2572740,nssv2572801,nssv2572742,nssv2572775,nssv2572813,nssv2572799,nssv2572804,nssv2572790,nssv2572757,nssv2572778,nssv2572805,nssv2572784,nssv2572807,nssv2572789,nssv2572769,nssv2572771,nssv2572747,nssv2572788,nssv2572745,nssv2572795,nssv2572749,nssv2572797,nssv2572763,nssv2572794,nssv2572733,nssv2572779,nssv2572759,nssv2572792,nssv2572806,nssv2572772,nssv2572761,nssv2572783,nssv2572758,nssv2572774,nssv2572750,nssv2572780,nssv2572754,nssv2572773,nssv2572762,nssv2572803,nssv2572760,nssv2572781,nssv2572748,nssv2572785,nssv2572764,nssv2572796,nssv2572746,nssv2572793,nssv2572751,nssv2572776,nssv2572768,nssv2572777,nssv2572767,nssv2572787,nssv2572737,nssv2572744,nssv2572753,nssv2572735,nssv2572755,nssv2572736,nssv2572765,nssv2572743,nssv2572739,nssv2572812,nssv2572810,nssv2572734,nssv2572809,nssv2572811,nssv2572756 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3417900 1 13423365 13424663 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691781 M 185 1 0 PRAMEF15,PRAMEF9 NA12878 dgv42n106 1 13425400 13434900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1112523,nsv1142748 M 2 0 2 PRAMEF15,PRAMEF9 KWS1,KWS2 nsv1076124 1 13426799 13437900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770046 M 1 0 1 PRAMEF15,PRAMEF9 KWP1 nsv1139473 1 13442200 13472700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977060 M 2 1 0 PRAMEF13 KWS2 nsv6138131 1 13442318 13451200 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894134 M 3202 1 0 PRAMEF13 nsv5980979 1 13442318 13472240 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525880 M 405 0 1 PRAMEF13 nsv953510 1 13443701 13472700 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003041 M 1 1 0 PRAMEF13 BILGI_BIOE nsv1161189 1 13444682 13471704 OTHER complex Lou_et_al_2015 26073780 Sequencing,SNP array nssv4029517,nssv4029547 M 369 1 1 PRAMEF13 nsv442562 1 13444908 13468022 CNV gain+loss McCarroll_et_al_2008 18776908 SNP array nssv1617377,nssv1617335,nssv1617360,nssv1617387,nssv1617374,nssv1617384,nssv1617396,nssv1617388,nssv1617393,nssv1617356,nssv1617399,nssv1617373,nssv1617370,nssv1617346,nssv1617357,nssv1617365,nssv1617366,nssv1617364,nssv1617390,nssv1617386,nssv1617394,nssv1617383,nssv1617398,nssv1617385,nssv1617362,nssv1617371,nssv1617401,nssv1617378,nssv1617400,nssv1617359,nssv1617372,nssv1617379,nssv1617361,nssv1617363,nssv1617355,nssv1617397,nssv1617389,nssv1617367,nssv1617375,nssv1617324,nssv1617368,nssv1617395,nssv1617381,nssv1617382,nssv1617376 M 270 4 41 PRAMEF13 NA07019,NA07022,NA07056,NA10847,NA12003,NA12004,NA12239,NA18526,NA18529,NA18540,NA18542,NA18550,NA18555,NA18563,NA18564,NA18566,NA18570,NA18573,NA18577,NA18579,NA18592,NA18603,NA18612,NA18621,NA18622,NA18624,NA18633,NA18635,NA18636,NA18637,NA18940,NA18947,NA18948,NA18952,NA18964,NA18969,NA18971,NA18978,NA18990,NA18992,NA18995,NA18998,NA19005,NA19119,NA19120 nsv1151073 1 13445499 13447000 CNV duplication John_et_al_2014 26484159 Sequencing nssv4002007 M 1 1 0 "" KWB1 nsv1149900 1 13450499 13472300 CNV duplication John_et_al_2014 26484159 Sequencing nssv3998687 M 1 1 0 PRAMEF13 KWB1 nsv3319394 1 13454069 13465908 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14479286 M 14 1 0 "" HG04217 nsv6056241 1 13454711 13454711 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531742 M 405 1 0 "" esv1751185 1 13468489 13468542 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3633436 M 2 0 1 "" HuRef nsv5583767 1 13471785 13472238 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060428 M 35 0 1 "" HG03486 nsv1077081 1 13472099 13555500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768319 M 1 0 1 PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21 KWP1 dgv43n106 1 13472300 13638500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1143437,nsv1112524 M 2 0 2 PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8 KWS1,KWS2 nsv953511 1 13472701 13658700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003053 M 1 0 1 PRAMEF15,PRAMEF16,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 BILGI_BIOE nsv545560 1 13489811 13490061 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710246 M 17421 0 1 "" esv3659966 1 13492859 13492859 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16483174 M 20 1 0 "" nsv8879 1 13520038 13532399 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv28030 M 31 1 0 PRAMEF20,PRAMEF21 NA10847 nsv8991 1 13546805 13749786 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv11787,nssv15108,nssv12110,nssv13101,nssv14087,nssv12104,nssv12423,nssv13757,nssv11784,nssv12432,nssv14734,nssv29272,nssv12759,nssv12756,nssv12444,nssv12431,nssv13755,nssv12774,nssv13759,nssv13110,nssv15119,nssv14419,nssv14418,nssv11788,nssv14404,nssv28924,nssv28925,nssv12764,nssv13095,nssv15443,nssv13412,nssv12771,nssv14413,nssv14088,nssv13440,nssv13111,nssv15773,nssv12436,nssv16433,nssv16103,nssv29273,nssv14759,nssv12442,nssv12106,nssv13425,nssv12100,nssv12781,nssv28536,nssv14748,nssv11786,nssv13082,nssv14743,nssv14089,nssv13094,nssv12114,nssv12430,nssv12451,nssv12434,nssv28534,nssv12102,nssv13427,nssv13097,nssv28537,nssv15094,nssv13758,nssv12760,nssv28942 M 31 30 7 PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA07029,NA07048,NA10839,NA10847,NA10863,NA11830,NA12155,NA12740,NA12802,NA12872,NA18502,NA18504,NA18517,NA18537,NA18552,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19132,NA19144,NA19173,NA19221,NA19240 nsv508137 1 13551291 13772150 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv618967 M 4 0 1 PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF7,PRAMEF8,PRAMEF9 NA10860 esv24967 1 13553987 13556868 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv13012,esv20195 M 40 2 0 "" NA12878,NA18907 nsv945782 1 13607163 13613468 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1752860,nssv1753835,nssv1752867,nssv1753820,nssv1752868,nssv1753844,nssv1753867,nssv1753832,nssv1752859,nssv1753839,nssv1752861,nssv1753869,nssv1752871,nssv1753871,nssv1753864,nssv1753845,nssv1752870,nssv1753876,nssv1753803,nssv1753846,nssv1753804,nssv1753848,nssv1753813,nssv1753841,nssv1753800,nssv1753850,nssv1753802,nssv1753826,nssv1753808,nssv1753834,nssv1753817,nssv1753831,nssv1753866,nssv1753823,nssv1753806,nssv1753849,nssv1752874,nssv1753828,nssv1752866,nssv1753872,nssv1753801,nssv1753829,nssv1752875,nssv1753870,nssv1752864,nssv1753822,nssv1753868,nssv1753840,nssv1753860,nssv1753855,nssv1753807,nssv1753854,nssv1752865,nssv1753877,nssv1753812,nssv1753827,nssv1753814,nssv1753825,nssv1753818,nssv1753838,nssv1753815,nssv1753824,nssv1753859,nssv1753847,nssv1752858,nssv1753875,nssv1753861,nssv1753856,nssv1752862,nssv1753852,nssv1753865,nssv1753836,nssv1752869,nssv1753873,nssv1753819,nssv1753821,nssv1752872,nssv1753851,nssv1753862,nssv1753857,nssv1753863,nssv1753853,nssv1753809,nssv1753833,nssv1753805,nssv1753837,nssv1753810,nssv1753842,nssv1753816,nssv1753858,nssv1752863,nssv1753830,nssv1753811,nssv1753843,nssv1752873,nssv1753878,nssv1753874 M 97 10 0 PRAMEF7,PRAMEF8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv820708 1 13607202 13653136 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420236 M 1 0 1 PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 NA10851 esv29915 1 13607202 13723120 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv16388,esv15458,esv11807,esv10843,esv16637,esv14244 M 40 34 5 PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF7,PRAMEF8,PRAMEF9 NA06985,NA07037,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12776,NA12828,NA12878,NA18502,NA18508,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 dgv141n54 1 13607252 13674919 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545562,nsv545561,nsv545563 M 17421 0 3 PRAMEF15,PRAMEF7,PRAMEF8,PRAMEF9 nsv3319396 1 13612556 13612693 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489729 M 14 0 1 "" NA12878 nsv545564 1 13612734 13706913 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710250 M 17421 0 1 PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 nsv4036494 1 13613200 13621900 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848437 M 10847 0 1 "" nsv945784 1 13613468 13616800 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753889,nssv1753938,nssv1753881,nssv1753918,nssv1753880,nssv1753946,nssv1753957,nssv1753940,nssv1753882,nssv1753945,nssv1753888,nssv1753929,nssv1753950,nssv1753934,nssv1753913,nssv1753935,nssv1753916,nssv1753947,nssv1753898,nssv1753939,nssv1753956,nssv1753927,nssv1753953,nssv1753924,nssv1753904,nssv1753936,nssv1753884,nssv1753930,nssv1753900,nssv1753942,nssv1753883,nssv1753932,nssv1753902,nssv1753928,nssv1753952,nssv1753941,nssv1753879,nssv1753917,nssv1753892,nssv1753931,nssv1753899,nssv1753943,nssv1753954,nssv1753920,nssv1753887,nssv1753919,nssv1753891,nssv1753925,nssv1753901,nssv1753923,nssv1753894,nssv1753921,nssv1753958,nssv1753926,nssv1753893,nssv1753933,nssv1753897,nssv1753937,nssv1753905,nssv1753948,nssv1753886,nssv1753922,nssv1753914,nssv1753944,nssv1753907,nssv1753909,nssv1753885,nssv1753915,nssv1753895,nssv1753896,nssv1753906,nssv1753955,nssv1753908,nssv1753912,nssv1753890,nssv1753951,nssv1753911,nssv1753903,nssv1753949,nssv1753910 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6138466 1 13614779 13624777 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894616 M 3202 1 0 "" nsv4035046 1 13615850 13642000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848446 M 10847 0 1 PRAMEF15,PRAMEF9 nsv5417159 1 13616195 13652771 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894617 M 3202 0 1 PRAMEF15,PRAMEF9 nsv545565 1 13616912 13639722 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710251 M 17421 0 1 "" nsv6325538 1 13624394 13627593 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200081 M 19652 1 0 "" nsv5430007 1 13626585 13679789 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894618 M 3202 0 1 PRAMEF15,PRAMEF9 nsv5827859 1 13626604 13627996 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462440,nssv17455091,nssv17466370 M 914 0 0 "" nsv545566 1 13626760 13671049 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710252 M 17421 0 1 PRAMEF15,PRAMEF9 nsv5429782 1 13626777 13685789 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894619 M 3202 1 0 PRAMEF15,PRAMEF9 nsv945785 1 13627126 13749126 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753969,nssv1753996,nssv1753961,nssv1753977,nssv1753962,nssv1754039,nssv1754044,nssv1754036,nssv1753968,nssv1754037,nssv1753960,nssv1754038,nssv1754050,nssv1753987,nssv1754002,nssv1753983,nssv1754005,nssv1753981,nssv1754032,nssv1753971,nssv1754033,nssv1753975,nssv1754013,nssv1754041,nssv1754019,nssv1753967,nssv1754006,nssv1753976,nssv1754017,nssv1753972,nssv1754025,nssv1753979,nssv1754008,nssv1753978,nssv1754018,nssv1753991,nssv1754009,nssv1754045,nssv1754048,nssv1753966,nssv1753998,nssv1754040,nssv1754014,nssv1753985,nssv1754010,nssv1753970,nssv1754046,nssv1753959,nssv1754015,nssv1753988,nssv1754001,nssv1753986,nssv1754004,nssv1753973,nssv1754055,nssv1753965,nssv1754028,nssv1753995,nssv1754053,nssv1753980,nssv1754007,nssv1753993,nssv1754035,nssv1753963,nssv1754030,nssv1753984,nssv1754029,nssv1753994,nssv1754020,nssv1753964,nssv1754051,nssv1753990,nssv1754003,nssv1753982,nssv1754000,nssv1753992,nssv1754012,nssv1754043,nssv1754022,nssv1753974,nssv1754016,nssv1753989,nssv1754026,nssv1754042,nssv1754024,nssv1754052,nssv1754047,nssv1754027,nssv1754021,nssv1754023,nssv1754031,nssv1753997,nssv1754034,nssv1754049,nssv1754054,nssv1753999,nssv1754011 M 97 10 0 PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF9 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3319638 1 13627294 13642292 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14490233 M 14 1 0 PRAMEF15,PRAMEF9 NA19434 dgv25n209 1 13634895 13644524 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5827656,nsv5827971 M 914 0 0 PRAMEF15,PRAMEF9 nsv3053471 1 13635195 13635195 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033054 M 2 1 0 "" NA12878 nsv5419696 1 13635384 13642776 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894620 M 3202 0 1 PRAMEF15,PRAMEF9 dgv84n223 1 13635593 13646292 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6326545,nsv6331816,nsv6333138 M 19652 3 0 PRAMEF15,PRAMEF9 nsv6319681 1 13635893 13637992 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200083 M 19652 1 0 "" dgv85n223 1 13635993 13698658 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6325763,nsv6326415 M 19652 2 0 PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 nsv5419835 1 13636776 13645392 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894622 M 3202 1 0 PRAMEF15,PRAMEF9 nsv5418032 1 13636776 13650776 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894621 M 3202 0 1 PRAMEF15,PRAMEF9 nsv6333717 1 13636793 13638792 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200088 M 19652 1 0 "" esv987523 1 13636959 13696564 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586687 M 3 1 0 PRAMEF15,PRAMEF18,PRAMEF19,PRAMEF9 HuRef nsv6317139 1 13637224 13881616 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200089 M 19652 1 0 LRRC38,PRAMEF15,PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21,PRAMEF9 dgv86n223 1 13637493 13682805 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6324419,nsv6325145,nsv6334428 M 19652 3 0 PRAMEF15,PRAMEF9 nsv5827657 1 13637560 13643353 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462703,nssv17463005,nssv17449863 M 914 0 0 PRAMEF15,PRAMEF9 nsv6329467 1 13637593 13642592 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051472 M 19652 0 1 PRAMEF15,PRAMEF9 nsv945568 1 13638007 13641276 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2568897,nssv2568932,nssv2568881,nssv2568918,nssv2568876,nssv2568928,nssv2568945,nssv2568908,nssv2568940,nssv2568930,nssv2568890,nssv2568925,nssv2568887,nssv2568923,nssv2568891,nssv2568906,nssv2572818,nssv2568903,nssv2568893,nssv2568926,nssv2568888,nssv2568920,nssv2568892,nssv2568931,nssv2568902,nssv2568929,nssv2568896,nssv2568913,nssv2568898,nssv2568915,nssv2568883,nssv2568909,nssv2568880,nssv2568912,nssv2568884,nssv2568905,nssv2568901,nssv2568910,nssv2572814,nssv2568917,nssv2568941,nssv2568924,nssv2568895,nssv2568938,nssv2568877,nssv2568919,nssv2568894,nssv2568914,nssv2568946,nssv2568935,nssv2568886,nssv2568907,nssv2568942,nssv2568927,nssv2568885,nssv2568904,nssv2568947,nssv2568937,nssv2568899,nssv2568936,nssv2568875,nssv2568921,nssv2568879,nssv2568934,nssv2568870,nssv2568916,nssv2568943,nssv2568872,nssv2568939,nssv2572816,nssv2568871,nssv2572817,nssv2572819,nssv2568948,nssv2568869,nssv2568873,nssv2568882,nssv2572815,nssv2568949,nssv2568874 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3226219 1 13638113 13647934 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14268076 M 9 1 0 PRAMEF15,PRAMEF9 NA19239 nsv6319271 1 13639193 13639992 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051473 M 19652 0 1 "" nsv6318538 1 13639293 13652287 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051474 M 19652 0 1 PRAMEF15,PRAMEF9 nsv5615960 1 13639601 13639601 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060423 M 35 1 0 "" NA19239 dgv87n223 1 13639893 13655105 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6327437,nsv6322159,nsv6335571 M 19652 3 0 PRAMEF15,PRAMEF9 nsv5565089 1 13639971 13640370 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060445 M 35 0 1 "" NA12878 nsv6329192 1 13641393 13644292 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051475 M 19652 0 1 PRAMEF15,PRAMEF9 nsv5827764 1 13644425 13653931 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452834,nssv17463478,nssv17462536 M 914 0 0 PRAMEF15,PRAMEF9 nsv6138910 1 13644776 13651088 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894624 M 3202 1 0 PRAMEF15,PRAMEF9 esv3673909 1 13644905 13645928 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16495721 M 20 0 0 PRAMEF15,PRAMEF9 nsv5827972 1 13645596 13647590 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458544,nssv17461455,nssv17449723 M 914 0 0 PRAMEF15,PRAMEF9 nsv6320532 1 13646093 13649392 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051476 M 19652 0 1 PRAMEF15,PRAMEF9 nsv1075188 1 13646199 13658900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769141 M 1 0 1 PRAMEF15,PRAMEF9 KWP1 nsv1112525 1 13646200 13653400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980636,nssv3966625 M 2 0 2 PRAMEF15,PRAMEF9 KWS1,KWS2 nsv5827860 1 13646314 13647590 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455389,nssv17458600,nssv17464896 M 914 0 0 PRAMEF15,PRAMEF9 nsv5827861 1 13646414 13649928 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465654,nssv17451377,nssv17463539 M 914 0 0 PRAMEF15,PRAMEF9 nsv6330901 1 13652388 13682405 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200096 M 19652 1 0 "" nsv5577083 1 13653866 13656508 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060446 M 35 0 1 "" NA19238 nsv5577755 1 13653883 13654280 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060447 M 35 0 1 "" NA24385 nsv5622370 1 13653885 13653885 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060448 M 35 1 0 "" HG03125 nsv6055830 1 13653974 13653974 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528488 M 405 1 0 "" nsv5981142 1 13654900 13655040 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527205 M 405 0 1 "" nsv5980981 1 13655094 13655273 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519783 M 405 0 1 "" nsv5981143 1 13655424 13655602 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528732 M 405 0 1 "" nsv5981144 1 13655823 13655951 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526207 M 405 0 1 "" nsv6334762 1 13656407 13710460 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200097 M 19652 1 0 PRAMEF18,PRAMEF19 nsv5571406 1 13656412 13656508 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060449 M 35 0 1 "" NA12878 nsv6137885 1 13656793 13662793 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894635 M 3202 1 0 "" nsv6319383 1 13657110 13658909 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200098 M 19652 1 0 "" nsv5827862 1 13657407 13659462 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462939,nssv17466045,nssv17449826 M 914 0 0 "" nsv5972964 1 13657830 13753363 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17355981 M 914 0 0 PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21 nsv6315786 1 13662310 13683605 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051477 M 19652 0 1 "" dgv88n223 1 13662510 13683505 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6316303,nsv6320410 M 19652 2 0 "" nsv5432411 1 13662601 13688789 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894646 M 3202 0 1 "" nsv4040313 1 13663000 13671000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963028 M 10847 1 0 "" nsv4518283 1 13663024 13663097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848471 M 10847 0 1 "" nsv5620295 1 13663050 13663050 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060450 M 35 1 0 "" HG00512 nsv4048919 1 13663067 13663184 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848481 M 10847 0 1 "" nsv5623511 1 13663074 13663074 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060659 M 35 1 0 "" NA12878 nsv3058804 1 13663097 13663097 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025269 M 2 1 0 "" CHM1 nsv3065697 1 13663104 13663104 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034561 M 2 1 0 "" CHM1 nsv3064003 1 13663346 13663346 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035911 M 2 1 0 "" NA12878 nsv6327835 1 13664778 13673777 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051478 M 19652 0 1 "" nsv6331252 1 13667178 13734657 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051479 M 19652 0 1 PRAMEF17,PRAMEF18,PRAMEF19 nsv5827863 1 13667308 13672041 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453297,nssv17461605,nssv17456928 M 914 0 0 "" nsv6329939 1 13668678 13671977 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200101 M 19652 1 0 "" dgv89n223 1 13668778 13671877 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6328649,nsv6321549 M 19652 0 2 "" nsv5827973 1 13668875 13671819 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468845,nssv17451842,nssv17462645 M 914 0 0 "" nsv5827864 1 13668876 13673735 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465789,nssv17453662,nssv17451576 M 914 0 0 "" nsv6331615 1 13668878 13674777 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051481 M 19652 0 1 "" dgv90n223 1 13668878 13682405 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6321572,nsv6320943 M 19652 0 2 "" nsv1141130 1 13669200 13692100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3992637 M 2 1 0 "" KWS2 nsv5607951 1 13671767 13671767 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060660 M 35 1 0 "" HG00512 nsv953512 1 13672401 13693800 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003064 M 1 1 0 "" BILGI_BIOE nsv6322545 1 13674778 13677805 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051485 M 19652 0 1 "" nsv6328955 1 13675178 13682405 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051486 M 19652 0 1 "" nsv5980982 1 13675541 13675680 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530535 M 405 0 1 "" nsv6042564 1 13675596 13675596 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527794 M 405 1 0 "" nsv5576016 1 13675657 13675712 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060661 M 35 0 1 "" NA19238 nsv3058686 1 13675657 13675713 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14032345 M 2 0 1 "" CHM1 nsv5828286 1 13675811 13682129 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468009,nssv17463959,nssv17449807 M 914 0 0 "" nsv6318283 1 13676206 13678205 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051487 M 19652 0 1 "" nsv6335118 1 13676706 13678605 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200102 M 19652 1 0 "" nsv5828078 1 13676982 13678798 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469592,nssv17457139,nssv17456477 M 914 0 0 "" nsv5828079 1 13676983 13681130 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464878,nssv17462456,nssv17457978 M 914 0 0 "" nsv6334771 1 13677106 13681305 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051488 M 19652 0 1 "" nsv6331551 1 13678506 13679705 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051489 M 19652 0 1 "" nsv5427186 1 13678789 13688097 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894690 M 3202 0 1 "" nsv6323851 1 13679106 13680905 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051490 M 19652 0 1 "" nsv6138496 1 13680405 13690842 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894701 M 3202 1 0 "" nsv6330942 1 13682006 13688205 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200103 M 19652 1 0 "" nsv1148774 1 13683899 13693100 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997561 M 1 1 0 "" KWB1 esv3365276 1 13683965 13686863 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691782 M 185 1 0 "" NA12878 nsv6138056 1 13684405 13692842 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894708 M 3202 0 1 "" nsv5827865 1 13685103 13694972 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469496,nssv17459558,nssv17452701 M 914 0 0 PRAMEF18,PRAMEF19 nsv6323485 1 13685206 13686305 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051492 M 19652 0 1 "" nsv5604555 1 13687501 13687501 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060662 M 35 1 0 "" HG00864 nsv5693580 1 13687501 13687501 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175684,nssv17205648 M 3202 2 0 "" nsv6041098 1 13687501 13687501 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526065 M 405 1 0 "" nsv6244304 1 13687515 13687515 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857545 M 1021 1 0 "" esv3430097 1 13687565 13689863 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8691783 M 185 1 0 "" NA12891 nsv2800113 1 13689280 13689280 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686745 M 2 1 0 "" nsv3319845 1 13689280 13689280 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474175,nssv14481357,nssv14478975 M 14 3 0 "" CHM13,HG02059,HG04217 nsv3319639 1 13689331 13689331 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486037,nssv14484043 M 14 2 0 "" HG00733,NA19434 nsv6056302 1 13689348 13689348 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530846 M 405 1 0 "" nsv3176957 1 13689355 13689408 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383858,nssv14438741 M 9 0 0 "" HG00733,NA19240 nsv5621692 1 13689372 13689372 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060663 M 35 1 0 "" HG00864 nsv5623973 1 13689443 13689443 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060664 M 35 1 0 "" NA19238 nsv5613739 1 13689709 13689709 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060665 M 35 1 0 "" HG00864 nsv6050300 1 13689709 13689709 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534092 M 405 1 0 "" nsv5827866 1 13690244 13692376 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450477,nssv17466685,nssv17462227 M 914 0 0 "" nsv6325081 1 13690259 13693158 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200104 M 19652 1 0 "" nsv5881946 1 13691834 13692143 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363971 M 914 0 1 "" nsv6330989 1 13692059 13692658 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051493 M 19652 0 1 "" nsv5827867 1 13692277 13702623 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468216,nssv17469002,nssv17459407 M 914 0 0 PRAMEF18,PRAMEF19 nsv5423189 1 13692842 13708844 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894709 M 3202 1 0 PRAMEF18,PRAMEF19 dgv16e199 1 13692845 13774592 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2677250,esv2660387 M 1151 0 374 PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21 HG00403,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00559,HG00560,HG00565,HG00566,HG00577,HG00578,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00628,HG00629,HG00634,HG00635,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,NA19311,NA19312,NA19313,NA19315,NA19316,NA19317,NA19318,NA19319,NA19321,NA19324,NA19327,NA19328,NA19331,NA19332,NA19334,NA19338,NA19346,NA19347,NA19350,NA19355,NA19359,NA19360,NA19371,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19393,NA19394,NA19395,NA19396,NA19397,NA19398,NA19399,NA19401,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19446,NA19448,NA19449,NA19451,NA19452,NA19453,NA19455,NA19456,NA19457,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19471,NA19472,NA19473,NA19474,NA19625,NA19648,NA19651,NA19652,NA19654,NA19655,NA19657,NA19660,NA19661,NA19663,NA19664,NA19675,NA19676,NA19678,NA19679,NA19681,NA19682,NA19684,NA19685,NA19700,NA19701,NA19703,NA19704,NA19707,NA19711,NA19712,NA19713,NA19716,NA19717,NA19719,NA19720,NA19722,NA19723,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19746,NA19747,NA19749,NA19750,NA19755,NA19756,NA19758,NA19759,NA19761,NA19762,NA19770,NA19771,NA19773,NA19774,NA19776,NA19777,NA19779,NA19780,NA19782,NA19783,NA19785,NA19786,NA19788,NA19789,NA19818,NA19819,NA19834,NA19835,NA19901,NA19904,NA19908,NA19914,NA19916,NA19917,NA19920,NA19921,NA19982,NA19985,NA20126,NA20127,NA20276,NA20278,NA20281,NA20282,NA20287,NA20289,NA20291,NA20294,NA20296,NA20299,NA20314,NA20317,NA20322,NA20332,NA20334,NA20336,NA20340,NA20341,NA20342,NA20344,NA20346,NA20348,NA20356,NA20502,NA20503,NA20504,NA20505,NA20506,NA20507,NA20508,NA20509,NA20510,NA20512,NA20513,NA20514,NA20515,NA20516,NA20517,NA20518,NA20519,NA20520,NA20522,NA20524,NA20525,NA20526,NA20527,NA20528,NA20529,NA20530,NA20531,NA20532,NA20533,NA20534,NA20535,NA20536,NA20537,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20582,NA20585,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20798,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20814,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828 nsv1075191 1 13693099 13773800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770663 M 1 0 1 PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21 KWP1 dgv44n106 1 13693200 13781400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1118102,nsv1130949 M 2 0 2 PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21 KWS1,KWS2 nsv1121752 1 13693800 13695600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968401 M 2 0 1 PRAMEF18,PRAMEF19 KWS2 nsv953522 1 13693801 13772500 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003075 M 1 0 1 PRAMEF17,PRAMEF18,PRAMEF19,PRAMEF20,PRAMEF21 BILGI_BIOE nsv5827658 1 13694573 13697380 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450428,nssv17464617,nssv17467706 M 914 0 0 PRAMEF18,PRAMEF19 nsv3319640 1 13695359 13705458 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14490761 M 14 1 0 PRAMEF18,PRAMEF19 HG02106 nsv5885945 1 13696095 13697102 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360754 M 914 0 1 PRAMEF18,PRAMEF19 nsv5569152 1 13696724 13696781 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060666 M 35 0 1 PRAMEF18,PRAMEF19 HG00732 nsv3065614 1 13696725 13696783 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14016349 M 2 0 1 PRAMEF18,PRAMEF19 CHM1 nsv5538693 1 13696823 13696833 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894711 M 3202 1 0 PRAMEF18,PRAMEF19 nsv5433680 1 13696842 13714844 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894712 M 3202 0 1 PRAMEF18,PRAMEF19 nsv5827868 1 13697381 13699567 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460810,nssv17462879,nssv17456143 M 914 0 0 PRAMEF18,PRAMEF19 nsv5573078 1 13698602 13698908 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060667 M 35 0 1 "" NA19238 nsv5827659 1 13698604 13701197 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457476,nssv17466155,nssv17454659 M 914 0 0 "" nsv6327883 1 13698625 13698922 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051494 M 19652 0 1 "" nsv5575335 1 13700118 13700422 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060668 M 35 0 1 "" NA19238 nsv5867822 1 13700911 13702899 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360482 M 914 0 1 "" nsv6325407 1 13700912 13702326 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200105 M 19652 1 0 "" nsv5827660 1 13700948 13702648 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453040,nssv17456633,nssv17454897 M 914 0 0 "" nsv5617050 1 13701616 13701616 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060457 M 35 1 0 "" NA19238 nsv5414050 1 13702321 13703040 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894713 M 3202 0 1 "" nsv5828080 1 13702449 13703835 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459812,nssv17449801,nssv17453090 M 914 0 0 "" nsv6325118 1 13702660 13703858 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051495 M 19652 0 1 "" nsv3208885 1 13702719 13712402 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14254210 M 9 0 1 "" NA19238 nsv5827974 1 13703661 13709648 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463088,nssv17456589,nssv17459708 M 914 0 0 "" nsv5611025 1 13705433 13705433 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060458 M 35 1 0 "" NA19238 nsv6549634 1 13705989 13706559 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249932 M 19652 0 0 "" nsv6057139 1 13707237 13707237 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524356 M 405 1 0 "" nsv5676776 1 13708519 13708519 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17174906 M 3202 1 0 "" nsv5571141 1 13708778 13709084 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060459 M 35 0 1 "" HG02011 nsv5981047 1 13708781 13709086 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536685 M 405 0 1 "" nsv3063711 1 13708797 13709104 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14033404 M 2 0 1 "" NA12878 nsv5431826 1 13709051 13710177 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894714 M 3202 0 1 "" nsv5621598 1 13709906 13709906 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060460 M 35 1 0 "" HG02011 nsv6057740 1 13709906 13709906 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517930 M 405 1 0 "" nsv5867839 1 13709912 13710531 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353758 M 914 0 1 "" nsv5422880 1 13710283 13711567 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894844 M 3202 0 1 "" nsv3193570 1 13710521 13711577 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14335034 M 9 0 1 "" HG00513 nsv5574638 1 13710521 13711579 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060461 M 35 0 1 "" HG00513 nsv5878630 1 13710521 13711579 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360331 M 914 0 1 "" nsv5981048 1 13710521 13711580 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531281 M 405 0 1 "" nsv6322376 1 13710521 13711580 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051496 M 19652 0 1 "" nsv3319846 1 13710523 13711581 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478800 M 14 0 1 "" HG02059 nsv5828287 1 13710524 13711589 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463575,nssv17467060 M 914 0 0 "" dgv91n223 1 13710528 13712841 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6544014,nsv6536870 M 19652 0 0 "" nsv5610169 1 13710647 13710647 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060462 M 35 1 0 "" HG02011 nsv5619946 1 13713266 13713266 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060463 M 35 1 0 "" NA12329 nsv6322582 1 13713460 13714811 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200106 M 19652 1 0 "" nsv6328966 1 13715887 13716456 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051497 M 19652 0 1 PRAMEF17 esv3670215 1 13718858 13718858 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492398 M 20 1 0 PRAMEF17 nsv6315977 1 13719351 13727819 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051498 M 19652 0 1 "" nsv6139039 1 13719358 13727846 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894849 M 3202 0 1 "" nsv5615234 1 13719365 13719365 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060464 M 35 1 0 "" NA12329 nsv5870113 1 13720778 13720828 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358813 M 914 0 1 "" nsv5615630 1 13721478 13721478 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060465 M 35 1 0 "" HG00513 nsv5958543 1 13721478 13721478 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363370 M 914 1 0 "" nsv6058519 1 13721484 13721484 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533474 M 405 1 0 "" nsv5980826 1 13721566 13721721 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523868 M 405 0 1 "" esv3673932 1 13722884 13725237 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16495742 M 20 0 0 "" nsv6540268 1 13722890 13725870 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249935 M 19652 0 0 "" nsv5429274 1 13723054 13723177 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894868 M 3202 0 1 "" nsv5869885 1 13723100 13723162 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367532 M 914 0 1 "" nsv5980827 1 13723100 13723166 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535833 M 405 0 1 "" nsv5981145 1 13723534 13723756 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521414 M 405 0 1 "" nsv5980828 1 13724862 13724998 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530376 M 405 0 1 "" nsv6553511 1 13727111 13727769 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249936 M 19652 0 0 "" nsv6048118 1 13727390 13727390 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528264 M 405 1 0 "" nsv6321040 1 13727443 13728308 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051499 M 19652 0 1 "" nsv5417230 1 13727513 13728319 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894878 M 3202 0 1 "" nsv5868014 1 13727517 13728313 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351674 M 914 0 1 "" nsv6138050 1 13727661 13727961 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894888 M 3202 0 1 "" nsv5980829 1 13728233 13728294 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526581 M 405 0 1 "" nsv6333231 1 13729149 13733575 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051500 M 19652 0 1 "" nsv6546970 1 13730094 13730583 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249937 M 19652 0 0 "" nsv5428561 1 13731156 13732109 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894900 M 3202 0 1 "" nsv5431382 1 13734942 13741718 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894911 M 3202 0 1 PRAMEF20 nsv6333223 1 13736315 13744308 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200107 M 19652 1 0 PRAMEF20,PRAMEF21 nsv5869815 1 13736405 13736540 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361637 M 914 0 1 "" nsv6538461 1 13741577 13742245 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249938 M 19652 0 0 PRAMEF20 nsv6332223 1 13741710 13745858 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200108 M 19652 1 0 PRAMEF20,PRAMEF21 esv3658592 1 13744191 13744385 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16481937 M 20 0 0 PRAMEF20,PRAMEF21 nsv5430857 1 13744386 13746000 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894922 M 3202 0 1 PRAMEF20,PRAMEF21 nsv5729607 1 13748721 13748721 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17252921 M 3202 1 0 "" nsv3199524 1 13748735 13759080 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14253424 M 9 0 1 "" NA19239 nsv4044321 1 13749000 13756000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848530 M 10847 0 1 "" nsv5678485 1 13749299 13749299 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17174229 M 3202 1 0 "" nsv6536254 1 13749469 13750024 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249939 M 19652 0 0 "" nsv3319207 1 13753586 13753586 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485386 M 14 1 0 "" NA19240 nsv5605132 1 13753587 13753587 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060467 M 35 1 0 "" NA19239 nsv5548400 1 13753592 13753592 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894931 M 3202 1 0 "" nsv5554147 1 13753592 13753592 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894930 M 3202 0 0 "" nsv3184639 1 13753593 13753755 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379985 M 9 0 0 "" NA19240 nsv3205561 1 13756987 13757265 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14336665 M 9 0 1 "" HG00513 nsv5828289 1 13757654 13758953 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450997 M 914 0 0 "" nsv5577954 1 13757725 13758846 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060468 M 35 0 1 "" NA19239 nsv5880412 1 13757725 13758846 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368190 M 914 0 1 "" nsv3525571 1 13757725 13758847 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14335876 M 9 0 1 "" NA19239 nsv6321895 1 13757725 13758847 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051501 M 19652 0 1 "" nsv5428789 1 13757728 13758847 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894933 M 3202 0 1 "" nsv5883753 1 13758351 13764487 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355279 M 914 0 1 "" nsv5828290 1 13758391 13763794 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459446 M 914 0 0 "" nsv5425418 1 13760425 13760514 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16894934 M 3202 0 1 "" nsv9102 1 13762482 13782195 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv15449,nssv13431,nssv13441,nssv12762,nssv13770 M 31 1 4 "" NA18502,NA18860,NA19173,NA19221,NA19240 esv3891970 1 13764823 13830577 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25780939 M 3017 0 1 LRRC38 nsv3194273 1 13765656 13797203 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14253442,nssv14253443 M 9 0 2 "" NA19239,NA19240 nsv5416338 1 13765683 13765817 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895237 M 3202 1 0 "" nsv6331253 1 13767398 13769464 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051502 M 19652 0 1 "" dgv11n206 1 13768069 13771296 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nsv5424545,nsv5429430 M 3202 0 2 "" nsv5429502 1 13768100 13768587 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895239 M 3202 0 1 "" nsv5981146 1 13770642 13770714 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532151 M 405 0 1 "" nsv5981147 1 13770661 13770839 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527337 M 405 0 1 "" nsv6555567 1 13770868 13771120 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249940 M 19652 0 0 "" nsv4742099 1 13771082 13771196 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285230 M 25 0 1 "" nsv5981148 1 13771256 13771339 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524772 M 405 0 1 "" nsv5689708 1 13771613 13771613 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17174939 M 3202 1 0 "" nsv4034264 1 13772000 13778000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848215 M 10847 0 1 "" nsv6316350 1 13772968 13777067 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051503 M 19652 0 1 "" nsv5414195 1 13773899 13777325 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895241 M 3202 0 1 "" nsv5828291 1 13773943 13776273 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468772 M 914 0 0 "" nsv3189492 1 13773953 13777328 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382046 M 9 0 1 "" NA19240 nsv3192675 1 13773965 13777333 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14335613,nssv14335612 M 9 0 2 "" NA19239,NA19240 nsv5583373 1 13773965 13777340 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060469 M 35 0 1 "" NA19239 nsv5886403 1 13773965 13777340 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351271 M 914 0 1 "" nsv6333035 1 13773968 13775267 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051504 M 19652 0 1 "" nsv3319847 1 13773971 13777346 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478060 M 14 0 1 "" NA19240 esv27160 1 13774084 13777459 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17463 M 40 0 4 "" NA18523,NA18858,NA19240,NA19257 nsv829503 1 13774117 13774919 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1425488 M 31 1 0 "" AK4 nsv6546045 1 13774512 13775311 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249941 M 19652 0 0 "" nsv6552186 1 13774662 13775810 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249942 M 19652 0 0 "" esv3660318 1 13774678 13774678 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16483490 M 20 1 0 "" dgv92n223 1 13774783 13775332 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6538104,nsv6545971 M 19652 0 0 "" esv2421816 1 13775026 13776828 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5059200,essv5113890,essv5115047,essv5093159,essv5051994,essv5019707,essv5022297,essv5130132,essv5141839,essv5012309,essv5037812,essv5040208,essv5156754,essv5003662,essv5112792,essv5119368,essv5148013,essv5153639,essv5052409,essv5136291,essv5104141,essv5138283,essv5058297,essv5152519,essv5154618,essv5030554,essv5149288,essv5145851,essv5062851,essv5122714,essv5089820,essv5154357,essv5087732,essv5020433,essv5119297,essv5154171,essv5140759,essv5129509,essv5130030,essv5078655,essv5159320,essv5074912,essv5115799,essv5068630,essv5101907,essv5119113,essv5084227,essv5054130,essv5047739,essv5113231,essv5124207,essv5029052,essv5078647,essv5160977,essv5146662,essv5103764,essv5130729,essv5116299,essv5008201,essv5085452,essv5053308,essv5088842,essv5153368,essv5055935,essv5113057,essv5038344,essv5063651,essv5043697,essv5089793,essv5152549,essv5101761,essv5081621,essv5057582,essv5070195,essv5014986,essv5113322,essv5133703,essv5037910,essv5054861 M 1184 0 79 "" NA12340,NA18486,NA18497,NA18498,NA18500,NA18515,NA18516,NA18520,NA18858,NA18860,NA18910,NA19027,NA19028,NA19095,NA19097,NA19107,NA19109,NA19117,NA19137,NA19153,NA19154,NA19172,NA19173,NA19174,NA19197,NA19199,NA19206,NA19209,NA19210,NA19211,NA19239,NA19240,NA19257,NA19258,NA19307,NA19321,NA19381,NA19382,NA19403,NA19429,NA19438,NA19449,NA19451,NA19452,NA19463,NA19466,NA19468,NA19471,NA19474,NA20282,NA20297,NA20301,NA20332,NA20335,NA20348,NA20521,NA20768,NA20796,NA20799,NA20894,NA20906,NA21344,NA21359,NA21366,NA21381,NA21383,NA21399,NA21401,NA21402,NA21404,NA21405,NA21473,NA21520,NA21596,NA21608,NA21614,NA21616,NA21686,NA21740 nsv6317082 1 13775468 13777367 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051505 M 19652 0 1 "" nsv5828182 1 13775543 13777001 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468173 M 914 0 0 "" nsv6326873 1 13776768 13777367 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051506 M 19652 0 1 "" nsv1076139 1 13777799 13781400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766516 M 1 0 1 "" KWP1 nsv6555013 1 13779184 13779824 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249945 M 19652 0 0 "" nsv5882982 1 13780607 13790773 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353141 M 914 0 1 "" nsv6325413 1 13780635 13790751 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051507 M 19652 0 1 "" nsv5430024 1 13780636 13790743 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895242 M 3202 0 1 "" nsv5827975 1 13780852 13781983 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464779 M 914 0 0 "" nsv5828081 1 13781134 13790744 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450337 M 914 0 0 "" esv3585258 1 13785920 13823188 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9859627 M 2504 0 1 LRRC38 HG01808 nsv5828183 1 13788469 13789494 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467229,nssv17460539 M 914 0 0 "" nsv5828082 1 13788470 13790594 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453322,nssv17454149 M 914 0 0 "" nsv3226173 1 13792661 13798228 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260927,nssv14260929,nssv14260930,nssv14260931,nssv14260928 M 9 5 0 "" HG00513,HG00514,HG00733,NA19238,NA19240 nsv6332687 1 13792662 13794399 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051508 M 19652 0 1 "" esv2504117 1 13796339 13796930 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5309749 M 1 1 0 "" NA18507 nsv4444665 1 13796534 13796534 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15756176 M 1 1 0 "" nsv5980830 1 13796545 13796817 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17533722 M 405 1 0 "" nsv6329746 1 13796569 13809654 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051509 M 19652 0 1 LRRC38 nsv4759859 1 13796602 13796602 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16283460 M 25 1 0 "" nsv3520400 1 13796627 13796627 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438742 M 9 1 0 "" HG00733 nsv5548682 1 13796627 13796627 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895244 M 3202 1 0 "" nsv5619728 1 13796627 13796627 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060470 M 35 1 0 "" HG00731 nsv5962737 1 13796627 13796627 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366278 M 914 1 0 "" nsv6054814 1 13796627 13796627 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519974 M 405 1 0 "" nsv2800465 1 13796628 13796628 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695994,nssv13683858 M 2 2 0 "" nsv3319848 1 13796628 13796628 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14481454,nssv14490263,nssv14485830,nssv14483406,nssv14477117,nssv14480002,nssv14485024,nssv14472182,nssv14490697,nssv14474555,nssv14479928,nssv14474377,nssv14477407,nssv14475178 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3524589 1 13796633 13796633 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412726,nssv14380481 M 9 2 0 "" HG00514,NA19240 nsv3954893 1 13796642 13796642 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189594 M 1 1 0 "" HG002 nsv3060752 1 13796650 13796650 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019852 M 2 1 0 "" CHM1 esv3892081 1 13799457 13948225 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25785248 M 3017 0 1 LRRC38,PDPN nsv4040596 1 13803962 13804018 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848225 M 10847 0 1 LRRC38 nsv833092 1 13804919 13963924 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442829,nssv1442818 M 95 0 2 LRRC38,PDPN nsv518971 1 13806039 13816121 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696439 M 2026 0 1 LRRC38 nsv5828083 1 13807037 13809776 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462909 M 914 0 0 LRRC38 esv3585260 1 13807061 13809636 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9859804,essv9859805,essv9859803 M 2504 0 3 LRRC38 HG01988,HG02090,NA19323 nsv5875762 1 13807082 13809656 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351717 M 914 0 1 LRRC38 nsv4047621 1 13807083 13809657 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848232 M 10847 0 1 LRRC38 nsv5425106 1 13807083 13809657 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895246 M 3202 0 1 LRRC38 nsv6327253 1 13807083 13809657 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051510 M 19652 0 1 LRRC38 nsv5416938 1 13807521 13808328 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895247 M 3202 0 1 LRRC38 nsv5430635 1 13807876 13808098 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895253 M 3202 0 1 LRRC38 nsv5680927 1 13808253 13808253 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175813 M 3202 1 0 LRRC38 nsv6244315 1 13817056 13817056 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857546 M 1021 1 0 LRRC38 nsv6539644 1 13817907 13819033 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249946 M 19652 0 0 LRRC38 esv3660370 1 13826670 13826670 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16483536 M 20 1 0 LRRC38 nsv4042441 1 13827252 13828074 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848239 M 10847 0 1 LRRC38 nsv4449020 1 13827855 13828045 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15756179 M 1 0 1 LRRC38 nsv4516559 1 13827916 13828062 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848245 M 10847 0 1 LRRC38 esv2743997 1 13827928 13828226 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6847012,essv6753492 M 96 0 2 LRRC38 SSM058,SSM086 esv3546566 1 13827940 13828183 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9745313 M 767 0 1 LRRC38 nsv5575708 1 13827952 13828140 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060475 M 35 0 1 LRRC38 HG00731 esv2667214 1 13827952 13828141 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6300070,essv6527450,essv5571879,essv5447578,essv5693025,essv6174435,essv5474916,essv5968490,essv6404963,essv6129928,essv5997060,essv5633266,essv5878044,essv5688382,essv6295186,essv6133155,essv5882652,essv5627382,essv5589979,essv5829553,essv6220064,essv5424672,essv6335162,essv6525437,essv5979848,essv6597214,essv6270017,essv5430608,essv5678857,essv5752641,essv6581615,essv5645853,essv5996805,essv5927303,essv6272089,essv6010231,essv5887391,essv5507820,essv5525495,essv6276556,essv6327539,essv5817662,essv5629333,essv5453421,essv5437821,essv6351454,essv6009858,essv6110467,essv6282862,essv6097172,essv6251516,essv6165043,essv6010861,essv5654703,essv5540905,essv6354439,essv6405631,essv6554198,essv6472157,essv5490185,essv6307016,essv5996246,essv5849354,essv6465113,essv6486467,essv6434833,essv5652502,essv5527918,essv6045496,essv6136422,essv6375468,essv6010364,essv6574648,essv5883876,essv6551447,essv5499304,essv5528342,essv6597905,essv6049111,essv5926579,essv5529075 M 1151 0 81 LRRC38 HG00096,HG00108,HG00123,HG00125,HG00136,HG00137,HG00158,HG00232,HG00249,HG00252,HG00253,HG00277,HG00281,HG00282,HG00309,HG00313,HG00318,HG00324,HG00327,HG00336,HG00345,HG00346,HG00421,HG00437,HG00512,HG00524,HG00533,HG00583,HG00584,HG00589,HG00607,HG00608,HG00651,HG00690,HG00698,HG01052,HG01060,HG01069,HG01070,HG01174,HG01187,HG01334,HG01353,HG01365,HG01366,HG01375,HG01377,HG01384,HG01437,HG01441,HG01492,NA07347,NA10851,NA11894,NA11918,NA11930,NA11995,NA12003,NA12155,NA18548,NA18552,NA18633,NA18636,NA18856,NA18940,NA19093,NA19116,NA19225,NA19321,NA19360,NA19371,NA19374,NA19383,NA19391,NA19394,NA19395,NA19396,NA19397,NA19399,NA19428,NA20341 nsv3951785 1 13827952 13828141 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180314 M 1 0 1 LRRC38 HG002 nsv6329940 1 13827952 13828141 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051511 M 19652 0 1 LRRC38 esv3662185 1 13827952 13828142 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465488 M 20 0 1 LRRC38 nsv4762245 1 13827955 13827955 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16286817 M 25 1 0 LRRC38 nsv5980831 1 13827964 13828153 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536508 M 405 0 1 LRRC38 nsv3319397 1 13828020 13828191 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14487990 M 14 0 1 LRRC38 NA12878 nsv6057774 1 13828044 13828044 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537528 M 405 1 0 LRRC38 nsv4033006 1 13830146 13868479 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963029 M 10847 1 0 LRRC38 nsv5980832 1 13830904 13831717 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518821 M 405 0 1 LRRC38 nsv5883793 1 13830905 13831714 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364735 M 914 0 1 LRRC38 nsv4050061 1 13830905 13831720 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848253 M 10847 0 1 LRRC38 nsv5827976 1 13832256 13837285 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453529 M 914 0 0 LRRC38 nsv5879403 1 13832347 13837257 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365528 M 914 0 1 LRRC38 nsv4052331 1 13832350 13837258 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848264 M 10847 0 1 LRRC38 nsv5981049 1 13832351 13837258 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533815 M 405 0 1 LRRC38 nsv5828184 1 13834186 13835185 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451834,nssv17468832 M 914 0 0 LRRC38 nsv6322519 1 13839496 13841695 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200109 M 19652 1 0 LRRC38 nsv4039518 1 13847522 13847662 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848272 M 10847 0 1 "" esv2744008 1 13848161 13849028 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6738806,essv6776929,essv6707262,essv6972336,essv6718854,essv6933300,essv6937675,essv6703860,essv6682824 M 96 0 9 "" SSM007,SSM021,SSM022,SSM029,SSM034,SSM040,SSM041,SSM052,SSM067 esv2376333 1 13848507 13848866 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4939438 M 1 0 1 "" NA18507 esv2744019 1 13848519 13848893 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6707262,essv6776929,essv6682824 M 96 0 3 "" SSM034,SSM041,SSM067 esv1009061 1 13848607 13848607 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570627 M 3 1 0 "" HuRef nsv5622510 1 13848608 13848608 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060480 M 35 1 0 "" HG00731 nsv5568057 1 13848608 13848671 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060479 M 35 0 1 "" NA19238 nsv2801000 1 13848609 13848609 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679259 M 2 1 0 "" nsv3319643 1 13848609 13848609 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489838,nssv14475270,nssv14489230,nssv14481399,nssv14484820,nssv14473300,nssv14475832,nssv14488280,nssv14479388 M 14 9 0 "" CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02818,HX1,NA12878 nsv3319849 1 13848609 13848672 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489340 M 14 0 1 "" HG02106 nsv4767431 1 13848617 13848617 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16287648 M 25 1 0 "" nsv5981051 1 13848630 13848692 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519209 M 405 0 1 "" nsv3064004 1 13848636 13848636 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14037743 M 2 1 0 "" NA12878 nsv6045758 1 13848656 13848656 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519687 M 405 1 0 "" nsv3540519 1 13848729 13848729 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412727,nssv14376934,nssv14438743 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3319644 1 13848801 13848801 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476011 M 14 1 0 "" NA19240 nsv5981052 1 13853217 13853705 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530494 M 405 0 1 "" esv3546788 1 13854165 13854375 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9745535 M 767 0 1 "" nsv6317883 1 13854179 13857021 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051512 M 19652 0 1 "" esv2658094 1 13854190 13854379 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5908267,essv5868716,essv6207898,essv6208914,essv6460990,essv5703516,essv6301748,essv6096620,essv6577413,essv6166899,essv6331160,essv6576788,essv5767133,essv5543408,essv6150035,essv6481467,essv6556159,essv6006928,essv6585751,essv6514553,essv6518239,essv5953067,essv6456993,essv5970214,essv6568499,essv6590058,essv6510999,essv6414725,essv5836452,essv5562956,essv6092130,essv5922194,essv5891494,essv5677481,essv5579923,essv6044589,essv5978187,essv5703927,essv6302531,essv6188162,essv6476298,essv6406195,essv5644291,essv5881093,essv6135002,essv6260719,essv5550463,essv5639876,essv6421536,essv5550077,essv6247692,essv5933301,essv5550129,essv5975828,essv6134546,essv5623698,essv6482388,essv5811810,essv6228340,essv5437298,essv5621734,essv5982563,essv6274427,essv6268292,essv5519714,essv5571023,essv6130641,essv6499862,essv5965042,essv6259387,essv6000834,essv5929006,essv6443922,essv5731451,essv6031404,essv6094221,essv5534797,essv6039474,essv5949197,essv6012974,essv5556836,essv6473802,essv6081436,essv5974643,essv5821522,essv6337280,essv5535262,essv6237551,essv6307927,essv5656503,essv5930142,essv5667103,essv6484334,essv5835677,essv6538902,essv5960653,essv5759534,essv5866379,essv6033408,essv5645527,essv5955605,essv6275652,essv5679858,essv6127554,essv6597866,essv5507613,essv6314133,essv6505563,essv6589873,essv5840187,essv6075772,essv5470649,essv6175858,essv5664819,essv6584145,essv6182792,essv5514861,essv5835282,essv6392379,essv6519506,essv6489783,essv6385230,essv5530771,essv5908486,essv5685828,essv6534412,essv6501009,essv5901771,essv6529094,essv6487241,essv5761386,essv5440187,essv6563386,essv6575837,essv5767193,essv6346310,essv6056130,essv6526690,essv6580857,essv5521790,essv6596432,essv6354370,essv6317269,essv6582753,essv5763687,essv6424190,essv6277010,essv5513619,essv6487837,essv5509575,essv6380526,essv5932411,essv6134227,essv6293672,essv5709203,essv6477733,essv6318609,essv5963405,essv6298750,essv5548836,essv5415706,essv5916737,essv6268057,essv5469047,essv6078499,essv6519944,essv5740411,essv6418213,essv5567034,essv5464387,essv5547019,essv6420430,essv6312358,essv5466717,essv6436623,essv5738045,essv5662908,essv5397079,essv5867077,essv6241175,essv5694770,essv5439999,essv5442693,essv5616040,essv5834404,essv5758327,essv6480899,essv6559901,essv5953739,essv6016920,essv5406423,essv6144375,essv5557860,essv5601070,essv6044956,essv5757224,essv5683130,essv5795599,essv6380935,essv6038528,essv5897617,essv6514724,essv5580293,essv6560168,essv5463492,essv6227837,essv6084609,essv5754235,essv6124796,essv5722966,essv6173582,essv6516581,essv5454528,essv5642618,essv6248492,essv5520251,essv6281794,essv6471375,essv6358787,essv5431792,essv5768748,essv6417259,essv5718507,essv5612708,essv6166006,essv6127900,essv5526966,essv5999398,essv6459433,essv5426478,essv5517554,essv5413303,essv6138316,essv6038810,essv6437222 M 1151 0 235 "" HG00103,HG00131,HG00133,HG00138,HG00140,HG00142,HG00154,HG00155,HG00182,HG00190,HG00233,HG00237,HG00246,HG00253,HG00259,HG00267,HG00268,HG00271,HG00276,HG00278,HG00281,HG00284,HG00285,HG00306,HG00309,HG00310,HG00318,HG00320,HG00324,HG00327,HG00334,HG00337,HG00339,HG00343,HG00346,HG00366,HG00368,HG00375,HG00418,HG00421,HG00422,HG00427,HG00428,HG00437,HG00442,HG00463,HG00464,HG00475,HG00476,HG00500,HG00513,HG00530,HG00531,HG00534,HG00537,HG00542,HG00543,HG00580,HG00581,HG00583,HG00589,HG00590,HG00592,HG00593,HG00607,HG00608,HG00613,HG00620,HG00638,HG00640,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00689,HG00690,HG00698,HG00699,HG00702,HG00704,HG00707,HG00731,HG01051,HG01052,HG01055,HG01070,HG01072,HG01080,HG01082,HG01083,HG01098,HG01101,HG01102,HG01107,HG01108,HG01134,HG01136,HG01137,HG01140,HG01149,HG01170,HG01173,HG01183,HG01253,HG01254,HG01334,HG01342,HG01350,HG01351,HG01356,HG01357,HG01360,HG01366,HG01378,HG01383,HG01384,HG01390,HG01462,HG01489,HG01515,HG01516,HG01518,HG01522,HG01551,NA06984,NA11994,NA12275,NA12340,NA18487,NA18534,NA18536,NA18543,NA18544,NA18548,NA18550,NA18553,NA18557,NA18559,NA18560,NA18561,NA18565,NA18574,NA18595,NA18596,NA18597,NA18599,NA18608,NA18610,NA18613,NA18622,NA18623,NA18633,NA18636,NA18856,NA18934,NA18956,NA18963,NA18982,NA18985,NA18986,NA18987,NA18990,NA18999,NA19010,NA19062,NA19064,NA19066,NA19067,NA19072,NA19074,NA19075,NA19076,NA19079,NA19080,NA19082,NA19088,NA19198,NA19223,NA19236,NA19248,NA19316,NA19317,NA19318,NA19327,NA19332,NA19372,NA19376,NA19381,NA19384,NA19390,NA19391,NA19396,NA19399,NA19401,NA19404,NA19428,NA19439,NA19443,NA19467,NA19625,NA19651,NA19652,NA19657,NA19658,NA19661,NA19663,NA19682,NA19685,NA19717,NA19726,NA19758,NA19774,NA19782,NA19786,NA19835,NA19901,NA19909,NA19917,NA19921,NA20276,NA20299,NA20314,NA20346,NA20503,NA20755,NA20760,NA20771,NA20818 nsv4738594 1 13854195 13854369 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16293355 M 25 0 1 "" nsv5876194 1 13854200 13854371 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366377 M 914 0 1 "" nsv5572114 1 13854200 13854374 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060481 M 35 0 1 "" HG00731 nsv5981053 1 13854200 13854375 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526889 M 405 0 1 "" nsv3525744 1 13854200 13854376 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14336894,nssv14336889,nssv14336892,nssv14336890,nssv14336891,nssv14336893,nssv14336888 M 9 0 7 "" HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19240 dgv113n152 1 13854200 13854379 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3183039,nsv3176699 M 9 0 0 "" HG00514,HG00733,NA19240 nsv4517646 1 13854200 13854379 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848282 M 10847 0 1 "" nsv5432125 1 13854200 13854379 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895275 M 3202 0 1 "" nsv3319850 1 13854201 13854374 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479709,nssv14480030,nssv14477606,nssv14473923,nssv14480287,nssv14486099,nssv14483114 M 14 0 7 "" HG00268,HG01352,HG02059,HG02818,HX1,NA12878,NA19434 nsv3050718 1 13854202 13854374 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14024791 M 2 0 1 "" NA12878 nsv3319401 1 13854272 13854344 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472393 M 14 0 1 "" NA19240 nsv5686604 1 13854379 13854379 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175859,nssv17205649 M 3202 2 0 "" nsv6244326 1 13854379 13854379 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857635 M 1021 1 0 "" esv3660502 1 13860664 13860664 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16483655 M 20 1 0 "" nsv6326399 1 13860838 13865129 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200110 M 19652 1 0 "" nsv6333679 1 13871154 13877869 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200111 M 19652 1 0 "" nsv5416404 1 13871154 13877870 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895286 M 3202 1 0 "" nsv4042995 1 13871161 13877870 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963030 M 10847 1 0 "" nsv4036891 1 13873368 13880645 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848291 M 10847 0 1 "" nsv5874557 1 13878688 13878971 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350729 M 914 0 1 "" nsv1113079 1 13881143 13881203 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967970 M 2 0 1 "" KWS2 esv3585262 1 13883458 13884461 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9860247,essv9860248 M 2504 0 2 "" HG03298,NA19440 esv2676801 1 13883468 13884505 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5398325 M 1151 0 1 "" NA19440 nsv5876047 1 13883521 13884480 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364617 M 914 0 1 "" nsv4042935 1 13883524 13884481 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848299 M 10847 0 1 "" nsv5420919 1 13883524 13884481 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895297 M 3202 0 1 "" nsv6321839 1 13883524 13884481 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051513 M 19652 0 1 "" nsv5827977 1 13883531 13884530 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454981 M 914 0 0 "" nsv5427964 1 13884270 13902423 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683829 M 3202 0 1 "" esv3585263 1 13884332 13902455 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9860259,essv9860250,essv9860280,essv9860258,essv9860251,essv9860281,essv9860254,essv9860249,essv9860279,essv9860268,essv9860252,essv9860264,essv9860253,essv9860257,essv9860276,essv9860262,essv9860271,essv9860256,essv9860270,essv9860255,essv9860272,essv9860263,essv9860266,essv9860260,essv9860265,essv9860274,essv9860267,essv9860269,essv9860278,essv9860273,essv9860261,essv9860275,essv9860277 M 2504 0 33 "" HG02697,HG02780,HG02790,HG03015,HG03234,HG03629,HG03643,HG03646,HG03684,HG03706,HG03745,HG03755,HG03756,HG03780,HG03812,HG03826,HG03864,HG03934,HG03941,HG03947,HG03960,HG03978,HG03989,HG04070,HG04076,HG04098,HG04099,HG04146,HG04153,HG04183,NA21088,NA21113,NA21120 nsv5827978 1 13884531 13902410 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455441 M 914 0 0 "" nsv5579958 1 13884561 13902428 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060482 M 35 0 1 "" HG03683 nsv5882877 1 13884561 13902428 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359978 M 914 0 1 "" nsv6321794 1 13884561 13902429 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051514 M 19652 0 1 "" nsv4034817 1 13884611 13902423 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848310 M 10847 0 1 "" nsv5883465 1 13885201 13887389 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17364422 M 914 1 0 "" nsv545567 1 13885279 14353071 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710253 M 17421 1 0 PDPN,PRDM2 nsv4035161 1 13886266 13890759 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848318 M 10847 0 1 "" nsv4537759 1 13887208 13887209 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026817 M 10847 1 0 "" nsv5546993 1 13887251 13887260 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895304 M 3202 1 0 "" nsv6327719 1 13889693 13901228 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051515 M 19652 0 1 "" nsv4045801 1 13894043 13896472 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848330 M 10847 0 1 "" esv2744031 1 13894060 13894905 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863955,essv6668946,essv6816578,essv6748320,essv6666891,essv6764158,essv6733479,essv6972337,essv6954736,essv6933301,essv6735975,essv6853234,essv6761850 M 96 0 13 "" SSM008,SSM021,SSM026,SSM029,SSM030,SSM031,SSM049,SSM050,SSM062,SSM063,SSM078,SSM087,SSM089 esv2417844 1 13894317 13894768 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4564737 M 1 0 1 "" NA18507 nsv4739943 1 13894334 13894468 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16291500 M 25 0 1 "" nsv3281985 1 13894348 13894419 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438966,nssv14415335 M 9 0 2 "" HG00514,HG00733 nsv4449021 1 13894348 13894481 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15761612 M 1 0 1 "" nsv3319851 1 13894355 13894487 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476563,nssv14487322,nssv14488090,nssv14484315,nssv14476813,nssv14475318,nssv14473945 M 14 0 7 "" HG00268,HG00733,HG01352,HG02059,HX1,NA12878,NA19240 nsv4043897 1 13894377 13894710 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963032 M 10847 1 0 "" nsv3280790 1 13894386 13894468 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374606 M 9 0 1 "" NA19240 esv2744042 1 13894415 13894600 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863955,essv6816578,essv6954736,essv6668946,essv6853234 M 96 0 5 "" SSM026,SSM031,SSM078,SSM087,SSM089 nsv1121440 1 13894417 13894612 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3965440 M 2 0 1 "" KWS2 nsv5980984 1 13894440 13894570 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528050 M 405 0 1 "" nsv5577887 1 13894456 13894585 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060483 M 35 0 1 "" HG00731 nsv3925745 1 13894456 13894586 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180316 M 1 0 1 "" HG002 esv3663008 1 13894456 13894587 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465562 M 20 0 1 "" nsv3319402 1 13894466 13894573 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487717,nssv14489075,nssv14474088,nssv14476613,nssv14488377,nssv14477838 M 14 0 6 "" HG00268,HG01352,HG02059,HX1,NA12878,NA19434 nsv5885448 1 13894466 13894597 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362349 M 914 0 1 "" nsv1152465 1 13894482 13894630 CNV deletion John_et_al_2014 26484159 Sequencing nssv3997069 M 1 0 1 "" KWB1 nsv1075610 1 13894484 13894707 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765140 M 1 0 1 "" KWP1 nsv3063855 1 13894486 13894619 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14034090 M 2 0 1 "" NA12878 esv2744053 1 13894499 13894574 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863955,essv6954736,essv6668946 M 96 0 3 "" SSM026,SSM031,SSM089 nsv3319645 1 13894523 13894612 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490544 M 14 0 1 "" HG04217 nsv955038 1 13894530 13894714 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000481 M 1 0 1 "" BILGI_BIOE nsv6319292 1 13901688 13902497 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051516 M 19652 0 1 "" nsv5426371 1 13901694 13902497 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683830 M 3202 0 1 "" nsv460483 1 13903715 13916997 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537046 M 1557 0 1 PDPN 1780854159_A nsv545568 1 13903715 13916997 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173768 M 17421 0 1 PDPN 1780854159_A nsv4033295 1 13905594 13905669 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848339 M 10847 0 1 "" nsv3540349 1 13915475 13915475 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380945 M 9 1 0 PDPN NA19240 nsv3937593 1 13915475 13915475 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189595 M 1 1 0 PDPN HG002 nsv4764524 1 13915475 13915475 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16291683 M 25 1 0 PDPN nsv5604800 1 13915475 13915475 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060485,nssv17060484 M 35 2 0 PDPN NA19238,NA24385 nsv5947696 1 13915475 13915475 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360778 M 914 1 0 PDPN nsv6040678 1 13915475 13915475 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518548 M 405 1 0 PDPN nsv2800116 1 13915476 13915476 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693183 M 2 1 0 PDPN nsv3319208 1 13915476 13915476 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474016,nssv14491426,nssv14480642 M 14 3 0 PDPN CHM1,HG00268,HG02106 nsv3060753 1 13915493 13915493 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14030024 M 2 1 0 PDPN CHM1 nsv5980986 1 13917252 13917779 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532411 M 405 0 1 PDPN nsv5965391 1 13925506 13925506 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352427 M 914 1 0 PDPN esv3660617 1 13925868 13925868 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16483759 M 20 1 0 PDPN nsv5582869 1 13928461 13928511 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060486 M 35 0 1 PDPN HG02587 nsv5886250 1 13928461 13928511 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360708 M 914 0 1 PDPN nsv6542248 1 13929752 13930228 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247001 M 19652 0 0 PDPN esv2744064 1 13931412 13932098 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6871711,essv6692757,essv6784991,essv6916662,essv6836183,essv6954737,essv6780864,essv6913997,essv6793280,essv6950548,essv6921713,essv6797446 M 96 0 12 PDPN SSM003,SSM016,SSM018,SSM025,SSM026,SSM037,SSM068,SSM069,SSM071,SSM072,SSM083,SSM091 nsv5618207 1 13931645 13931645 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060488 M 35 1 0 PDPN HG03125 nsv5571484 1 13931645 13931706 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060487 M 35 0 1 PDPN HG00513 nsv5874908 1 13931645 13931706 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356059 M 914 0 1 PDPN nsv1144354 1 13931645 13931707 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995105 M 2 0 1 PDPN KWS1 nsv3525160 1 13931645 13931707 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14338507,nssv14338508 M 9 0 2 PDPN HG00513,HG00514 esv3663652 1 13931645 13931708 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465620 M 20 0 1 PDPN nsv3319403 1 13931646 13931707 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479733,nssv14475417 M 14 0 2 PDPN HG02818,NA12878 nsv3176463 1 13931646 13931708 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14415141 M 9 0 0 PDPN HG00514 nsv5981285 1 13931659 13931724 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532251 M 405 0 1 PDPN nsv4737659 1 13931667 13931729 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16275129 M 25 0 1 PDPN nsv6056748 1 13931698 13931698 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518271 M 405 1 0 PDPN nsv3055424 1 13931699 13931761 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14030200 M 2 0 1 PDPN NA12878 nsv6327170 1 13933140 13934082 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200113 M 19652 1 0 PDPN esv3372731 1 13940018 13940033 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898638,essv8898632,essv8898631,essv8898630,essv8898635,essv8898633,essv8898637,essv8898634 M 185 8 0 PDPN NA18499,NA18501,NA18504,NA18505,NA18523,NA18856,NA19116,NA19257 nsv5615310 1 13940019 13940019 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060489 M 35 1 0 PDPN HG03371 esv3306243 1 13940019 13940020 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7760282,essv7740627,essv7750527,essv7752856,essv7754869,essv7749286,essv7761514,essv7760129 M 185 8 0 PDPN NA18499,NA18501,NA18504,NA18505,NA18523,NA18856,NA19116,NA19257 nsv4533931 1 13940019 13940020 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026844 M 10847 1 0 PDPN nsv5693079 1 13940031 13940031 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175057,nssv17205650 M 3202 2 0 PDPN nsv5394629 1 13940031 13940082 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895306 M 3202 1 0 PDPN nsv1113080 1 13944237 13944300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967971 M 2 0 1 PDPN KWS2 nsv3076 1 13954193 13984534 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv474 M 9 1 0 "" NA19240 nsv528139 1 13973250 13989227 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704685 M 2026 0 1 "" nsv6546259 1 13973840 13974260 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247002 M 19652 0 0 "" nsv4754433 1 13984859 13984859 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284397 M 25 1 0 "" nsv3936770 1 13984869 13984869 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189596 M 1 1 0 "" HG002 nsv5609557 1 13984869 13984869 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060193 M 35 1 0 "" HG00731 nsv2801001 1 13984887 13984887 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690948 M 2 1 0 "" nsv3319404 1 13984887 13984887 CNV sva insertion Audano_et_al_2019 30661756 Sequencing nssv14477328,nssv14479027,nssv14475719,nssv14484583,nssv14482967,nssv14490989,nssv14489309,nssv14481463,nssv14480036,nssv14490337,nssv14473795,nssv14480158,nssv14472153,nssv14488339 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3557982 1 13984892 13984892 CNV sva insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438744,nssv14412728,nssv14388149 M 9 3 0 "" HG00514,HG00733,NA19240 nsv2800117 1 13984893 13984893 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679575 M 2 1 0 "" esv1349671 1 13984919 13984919 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4353969 M 2 1 0 "" HuRef nsv6046937 1 13984933 13984933 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528330 M 405 1 0 "" nsv5720635 1 13985689 13985689 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17239188 M 3202 1 0 "" nsv4537064 1 13990887 13990888 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026853 M 10847 1 0 "" nsv523568 1 13992069 14004623 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699350 M 2026 0 1 "" nsv3187 1 13992339 14037646 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7852 M 9 0 1 PRDM2 NA12156 nsv5981054 1 13993900 13993989 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525522 M 405 0 1 "" nsv5583421 1 13994622 13994937 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060194 M 35 0 1 "" NA18534 esv3585265 1 13994663 13998605 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9860347,essv9860348 M 2504 0 2 "" HG01075,HG01281 nsv6318236 1 13994764 13998712 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051518 M 19652 0 1 "" nsv5432639 1 13994804 13998690 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895309 M 3202 0 1 "" nsv4032777 1 13994804 13998712 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846296 M 10847 0 1 "" nsv5621192 1 13995027 13995027 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060195 M 35 1 0 "" HG00096 nsv6546515 1 13997173 13998515 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247004 M 19652 0 0 "" nsv5432805 1 13998418 13999197 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895310 M 3202 0 1 "" nsv6332346 1 13998418 13999197 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051519 M 19652 0 1 "" nsv5432056 1 13998434 13998741 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895311 M 3202 0 1 "" nsv5980834 1 13998462 13999069 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17534328 M 405 1 0 "" esv2744075 1 13999684 14000134 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6679164 M 96 0 1 "" SSM033 esv3547010 1 13999710 14000086 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9745757 M 767 0 1 "" nsv5576027 1 13999720 14000030 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060198 M 35 0 1 "" HG00513 nsv5879821 1 13999720 14000030 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355072 M 914 0 1 "" nsv6324979 1 13999720 14000031 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051520 M 19652 0 1 "" nsv5981286 1 13999720 14000032 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531964 M 405 0 1 "" nsv2800467 1 13999722 14000032 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13679425 M 2 0 1 "" nsv3319853 1 13999722 14000032 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14473113 M 14 0 1 "" CHM1 nsv3056691 1 13999723 14000034 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14024345 M 2 0 1 "" CHM1 nsv3175965 1 13999726 14000031 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14339006 M 9 0 1 "" HG00513 nsv5414678 1 13999735 14000031 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895312 M 3202 0 1 "" nsv4036233 1 13999735 14000315 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846305 M 10847 0 1 "" nsv4036281 1 14002505 14002674 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846313 M 10847 0 1 "" nsv4458640 1 14003453 14003454 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026863 M 10847 1 0 "" nsv4458916 1 14013438 14013439 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026870 M 10847 1 0 "" nsv5728638 1 14016981 14016981 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17238506 M 3202 1 0 "" nsv5556086 1 14016981 14017009 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895313 M 3202 1 0 "" nsv6550944 1 14017272 14017717 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247006 M 19652 0 0 "" nsv6320511 1 14017794 14018315 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051521 M 19652 0 1 "" nsv6331073 1 14017996 14018595 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051522 M 19652 0 1 "" nsv4034193 1 14018984 14025776 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846323 M 10847 0 1 "" esv3660767 1 14020717 14020717 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16483894 M 20 1 0 "" nsv6552281 1 14020813 14021310 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247007 M 19652 0 0 "" nsv6548284 1 14020987 14021223 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247008 M 19652 0 0 "" nsv6330709 1 14024996 14027895 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200114 M 19652 1 0 PRDM2 nsv6322419 1 14025227 14025724 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051523 M 19652 0 1 "" nsv954813 1 14026501 14053600 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003086 M 1 1 0 PRDM2 BILGI_BIOE nsv4041428 1 14044298 14047638 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846333 M 10847 0 1 PRDM2 nsv6320039 1 14044298 14047638 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051524 M 19652 0 1 PRDM2 nsv4046607 1 14044876 14045395 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846342 M 10847 0 1 PRDM2 nsv6329332 1 14071296 14075595 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200115 M 19652 1 0 PRDM2 nsv5691476 1 14072793 14072793 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175291 M 3202 1 0 PRDM2 nsv6321699 1 14073096 14077295 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200116 M 19652 1 0 PRDM2 nsv3115456 1 14074573 14078345 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14085858 M 467 0 1 PRDM2 sample216 nsv4036138 1 14076342 14076437 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846352 M 10847 0 1 PRDM2 nsv6316960 1 14076396 14080395 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200117 M 19652 1 0 PRDM2 nsv474268 1 14076943 14076943 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012404 M 9 1 0 PRDM2 NA18507 nsv6541809 1 14081865 14084785 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247009 M 19652 0 0 PRDM2 nsv6046053 1 14093292 14093292 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522080 M 405 1 0 PRDM2 nsv4459228 1 14093292 14093293 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025264 M 10847 1 0 PRDM2 nsv5689359 1 14093298 14093298 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175393 M 3202 1 0 PRDM2 nsv5402778 1 14093298 14093349 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895314 M 3202 1 0 PRDM2 esv3577741 1 14100342 14112863 CNV loss Uddin_et_al_2014 25503493 SNP array essv9797643,essv9797755 M 873 0 2 PRDM2 401012TP,401882CR nsv4458917 1 14104417 14104418 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025833 M 10847 1 0 PRDM2 nsv6323738 1 14110454 14111674 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051526 M 19652 0 1 PRDM2 nsv4051762 1 14110455 14111674 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846361 M 10847 0 1 PRDM2 nsv4559841 1 14120331 14120332 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025843 M 10847 1 0 PRDM2 nsv4564859 1 14120755 14125311 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15788994 M 10847 0 0 PRDM2 esv2744086 1 14132559 14132935 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6714240 M 96 0 1 PRDM2 SSM043 nsv473350 1 14133899 14133899 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018587 M 9 1 0 PRDM2 NA19129 nsv3183222 1 14138998 14139300 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440174 M 9 0 0 PRDM2 HG00733 nsv4518382 1 14148045 14149038 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963033 M 10847 1 0 PRDM2 nsv1115337 1 14153100 14157000 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976389 M 2 1 0 "" KWS2 nsv6327889 1 14161996 14166895 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051527 M 19652 0 1 "" esv22539 1 14163040 14167016 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16966,esv19106 M 40 0 10 "" NA18505,NA18511,NA18517,NA18858,NA18907,NA18909,NA19099,NA19147,NA19225,NA19257 nsv5828186 1 14163043 14166945 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452017 M 914 0 0 "" esv3585266 1 14163092 14167002 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9860445,essv9860351,essv9860446,essv9860354,essv9860444,essv9860355,essv9860447,essv9860349,essv9860449,essv9860352,essv9860448,essv9860350,essv9860450,essv9860353,essv9860443,essv9860462,essv9860365,essv9860464,essv9860368,essv9860465,essv9860367,essv9860471,essv9860356,essv9860473,essv9860358,essv9860469,essv9860363,essv9860459,essv9860361,essv9860480,essv9860359,essv9860482,essv9860357,essv9860461,essv9860371,essv9860460,essv9860362,essv9860478,essv9860370,essv9860455,essv9860360,essv9860466,essv9860364,essv9860483,essv9860366,essv9860470,essv9860369,essv9860456,essv9860411,essv9860476,essv9860397,essv9860457,essv9860434,essv9860463,essv9860414,essv9860475,essv9860431,essv9860468,essv9860389,essv9860451,essv9860408,essv9860467,essv9860436,essv9860458,essv9860372,essv9860453,essv9860383,essv9860479,essv9860420,essv9860481,essv9860382,essv9860472,essv9860390,essv9860454,essv9860386,essv9860477,essv9860402,essv9860452,essv9860423,essv9860474,essv9860403,essv9860486,essv9860407,essv9860501,essv9860404,essv9860503,essv9860394,essv9860490,essv9860379,essv9860506,essv9860437,essv9860491,essv9860401,essv9860505,essv9860399,essv9860492,essv9860380,essv9860496,essv9860378,essv9860498,essv9860435,essv9860507,essv9860391,essv9860495,essv9860413,essv9860500,essv9860392,essv9860504,essv9860406,essv9860487,essv9860429,essv9860489,essv9860417,essv9860497,essv9860438,essv9860488,essv9860398,essv9860493,essv9860375,essv9860499,essv9860409,essv9860508,essv9860441,essv9860484,essv9860430,essv9860502,essv9860418,essv9860485,essv9860432,essv9860494,essv9860442,essv9860439,essv9860400,essv9860393,essv9860396,essv9860387,essv9860373,essv9860388,essv9860440,essv9860425,essv9860377,essv9860422,essv9860416,essv9860426,essv9860427,essv9860433,essv9860374,essv9860421,essv9860412,essv9860415,essv9860410,essv9860376,essv9860381,essv9860384,essv9860395,essv9860385,essv9860405,essv9860428,essv9860419,essv9860424 M 2504 0 160 "" HG01028,HG01188,HG01197,HG01413,HG01524,HG01551,HG01610,HG01883,HG01886,HG01894,HG01912,HG01914,HG02013,HG02051,HG02053,HG02111,HG02143,HG02144,HG02322,HG02323,HG02337,HG02427,HG02433,HG02496,HG02502,HG02511,HG02545,HG02555,HG02562,HG02568,HG02574,HG02595,HG02614,HG02620,HG02629,HG02634,HG02646,HG02667,HG02716,HG02757,HG02804,HG02808,HG02817,HG02820,HG02852,HG02885,HG02891,HG02895,HG02947,HG02968,HG03024,HG03025,HG03040,HG03046,HG03052,HG03054,HG03060,HG03078,HG03079,HG03084,HG03091,HG03097,HG03129,HG03130,HG03133,HG03136,HG03139,HG03168,HG03175,HG03195,HG03225,HG03265,HG03280,HG03291,HG03297,HG03300,HG03301,HG03311,HG03343,HG03369,HG03376,HG03385,HG03388,HG03410,HG03436,HG03437,HG03439,HG03445,HG03446,HG03449,HG03458,HG03464,HG03469,HG03472,HG03485,HG03499,HG03514,HG03515,HG03518,HG03556,HG03578,HG03583,NA18486,NA18501,NA18505,NA18510,NA18511,NA18517,NA18858,NA18871,NA18881,NA18907,NA18909,NA19023,NA19035,NA19036,NA19092,NA19093,NA19095,NA19099,NA19107,NA19121,NA19130,NA19131,NA19137,NA19146,NA19147,NA19171,NA19225,NA19257,NA19308,NA19309,NA19316,NA19318,NA19347,NA19374,NA19378,NA19383,NA19390,NA19391,NA19394,NA19403,NA19431,NA19437,NA19440,NA19443,NA19449,NA19452,NA19456,NA19473,NA19703,NA19712,NA19916,NA19982,NA20126,NA20281,NA20287,NA20289,NA20357,NA20412 nsv3319650 1 14163093 14167001 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477268 M 14 0 1 "" HG02818 nsv5571239 1 14163093 14167001 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060202 M 35 0 1 "" HG03486 nsv5874653 1 14163093 14167001 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366529 M 914 0 1 "" esv2660771 1 14163093 14167002 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5652186,essv6479979,essv5688053,essv6475055,essv6414672,essv5638982,essv6057318,essv6150516,essv5712320,essv5638046,essv5470781,essv6101699,essv6563699,essv6064476,essv6113322,essv6344862,essv6100642,essv5738996,essv6546952,essv6276590,essv6556082,essv5421703,essv5653858,essv6143653,essv5601272,essv6591425,essv6112891,essv5850685,essv6289637,essv6208975,essv5617103,essv5837003,essv6007775,essv5508810,essv5881645,essv6241574,essv5456701,essv5947056,essv5878578,essv6302125,essv5614058,essv6586520,essv6499202,essv6131673,essv6198786,essv5663105,essv5561509,essv5660168,essv5446129,essv5913446,essv6326609,essv6334563,essv6030971,essv6569919 M 1151 0 54 "" HG01188,HG01197,HG01551,NA18486,NA18487,NA18501,NA18505,NA18511,NA18517,NA18858,NA18871,NA18907,NA19092,NA19093,NA19099,NA19107,NA19130,NA19137,NA19147,NA19171,NA19225,NA19257,NA19316,NA19318,NA19347,NA19373,NA19374,NA19381,NA19382,NA19383,NA19390,NA19391,NA19394,NA19403,NA19431,NA19437,NA19440,NA19443,NA19444,NA19449,NA19452,NA19453,NA19456,NA19462,NA19469,NA19470,NA19473,NA19703,NA19707,NA19712,NA19916,NA19982,NA20126,NA20287 nsv4033847 1 14163093 14167002 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846923 M 10847 0 1 "" nsv5419341 1 14163093 14167002 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895315 M 3202 0 1 "" nsv6328771 1 14163496 14168295 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200118 M 19652 1 0 "" nsv4041941 1 14163778 14164163 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846933 M 10847 0 1 "" nsv6322160 1 14164096 14166995 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051528 M 19652 0 1 "" nsv5689075 1 14164664 14164664 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175102 M 3202 1 0 "" nsv5960984 1 14165081 14165081 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17367478 M 914 1 0 "" nsv5605389 1 14165116 14165116 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060203 M 35 1 0 "" NA18534 nsv508007 1 14184921 14190921 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv618491,nssv621465 M 4 0 0 "" CHM,NA15510 nsv6321489 1 14185301 14185748 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051529 M 19652 0 1 "" nsv5616492 1 14185688 14185688 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060204 M 35 1 0 "" NA20847 nsv5965157 1 14187404 14187404 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350287 M 914 1 0 "" nsv4038078 1 14188316 14188426 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846941 M 10847 0 1 "" nsv4458918 1 14189734 14189735 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027242 M 10847 1 0 "" nsv4284192 1 14196413 14196414 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027251 M 10847 1 0 "" nsv1156209 1 14208077 14223074 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4019115 M 131 0 1 "" esv3577742 1 14208081 14228490 CNV loss Uddin_et_al_2014 25503493 SNP array essv9797866 M 873 0 1 "" 400272AE nsv516549 1 14208488 14209336 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv690011,nssv669085 M 2026 0 2 "" esv3664374 1 14211380 14211451 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16465685 M 20 0 1 "" esv3585267 1 14222902 14228186 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9860509 M 2504 0 1 "" HG03784 nsv5421903 1 14222994 14228001 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895320 M 3202 0 1 "" nsv4035143 1 14224714 14228635 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848360 M 10847 0 1 "" nsv6323479 1 14224714 14228635 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051530 M 19652 0 1 "" nsv5827980 1 14233191 14242385 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454355 M 914 0 0 "" nsv5431509 1 14236721 14244055 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895321 M 3202 1 0 "" nsv5828293 1 14236728 14249747 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452124 M 914 0 0 "" nsv5878486 1 14236739 14249803 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17357424 M 914 1 0 "" nsv6540549 1 14237023 14237478 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247010 M 19652 0 0 "" esv3585268 1 14240342 14255075 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9860510 M 2504 1 0 "" HG02395 nsv5432030 1 14240426 14255450 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895322 M 3202 1 0 "" nsv4045499 1 14250290 14250385 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963034 M 10847 1 0 "" nsv5414715 1 14250290 14250386 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895324 M 3202 1 0 "" nsv4557860 1 14254126 14254127 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027258 M 10847 1 0 "" nsv5719409 1 14254144 14254144 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17246063,nssv17239403 M 3202 2 0 "" nsv6325468 1 14262495 14282960 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200119 M 19652 1 0 "" esv3670356 1 14263776 14263776 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492524 M 20 1 0 "" esv3660932 1 14271969 14271969 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484042 M 20 1 0 "" nsv4044637 1 14276693 14277015 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848370 M 10847 0 1 "" nsv516435 1 14284460 14286464 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv668340,nssv683301,nssv681150 M 2026 0 3 "" nsv6334474 1 14288834 14289597 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051531 M 19652 0 1 "" esv35099 1 14294605 14370368 CNV gain Pinto_et_al_2007 17911159 SNP array essv6979949,essv6986978 M 771 2 0 "" NA18863 esv24677 1 14295319 14295827 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16259 M 40 0 1 "" NA19257 nsv6327743 1 14299442 14308523 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051532 M 19652 0 1 "" nsv4568291 1 14303673 14303674 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027267 M 10847 1 0 "" esv2758923 1 14305082 14372400 CNV gain Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756836 M 270 2 0 "" NA18861,NA18863 nsv6326972 1 14306147 14309586 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051533 M 19652 0 1 "" dgv34n100 1 14306507 14370745 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001764,nsv1006184,nsv1000636,nsv1009457,nsv1004214,nsv1011918 M 11257 9 0 "" nsv6048543 1 14307588 14307588 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528228 M 405 1 0 "" nsv3935612 1 14307592 14307592 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189597 M 1 1 0 "" HG002 nsv4444666 1 14307592 14307592 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15756738 M 1 1 0 "" nsv5610497 1 14307592 14307592 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060205 M 35 1 0 "" NA24385 nsv6045235 1 14307592 14307592 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521760 M 405 1 0 "" nsv4534790 1 14307592 14307593 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027288 M 10847 1 0 "" nsv3319212 1 14307593 14307593 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484379 M 14 1 0 "" HG00268 nsv4037293 1 14311463 14371404 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963035 M 10847 1 0 "" nsv6325508 1 14311547 14371401 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200121 M 19652 1 0 "" nsv5415687 1 14311547 14371404 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895327 M 3202 1 0 "" dgv8e214 1 14311598 14373032 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585272,esv3585271,esv3585270 M 2504 3 0 "" HG03130,NA18618,NA18861 esv27027 1 14311609 14371586 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv13313 M 40 1 0 "" NA18861 esv2764228 1 14313274 14370757 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7005008,essv7005006,essv7005007 M 1109 3 0 "" RW_0186,RW_0292,RW_0330 nsv545569 1 14313480 14371137 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710254 M 17421 1 0 "" nsv524444 1 14313480 14371175 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv700376 M 2026 1 0 "" nsv5419539 1 14314879 14470879 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895338 M 3202 1 0 "" nsv5426079 1 14316014 14824108 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895349 M 3202 1 0 "" esv3693090 1 14320502 14371137 CNV gain Palta_et_al_2015 25853576 SNP array essv16507970,essv16509155 M 199 2 0 "" NA18861,NA18863 esv3660961 1 14321714 14321714 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484069 M 20 1 0 "" nsv4050062 1 14328450 14332078 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848381 M 10847 0 1 "" nsv1075614 1 14331191 14331260 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769444 M 1 0 1 "" KWP1 nsv1133811 1 14331192 14331260 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969382 M 2 0 1 "" KWS2 nsv5582021 1 14331435 14331510 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060206 M 35 0 1 "" HG03486 nsv4044916 1 14331437 14331511 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848389 M 10847 0 1 "" nsv5430636 1 14331437 14331511 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895358 M 3202 0 1 "" nsv517840 1 14331940 14337844 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695245 M 2026 0 1 "" nsv4459230 1 14338632 14338633 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027299 M 10847 1 0 "" esv1011257 1 14340834 14349546 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563991 M 3 0 1 "" HuRef nsv4459231 1 14344536 14344537 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027310 M 10847 1 0 "" nsv4045866 1 14349026 14349497 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848399 M 10847 0 1 "" nsv6318373 1 14352425 14353084 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051535 M 19652 0 1 "" nsv4459232 1 14357467 14357468 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027321 M 10847 1 0 "" nsv5677354 1 14357481 14357481 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205651,nssv17176915 M 3202 2 0 "" nsv5394954 1 14357481 14357532 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895378 M 3202 1 0 "" nsv5719320 1 14371403 14371403 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17244465 M 3202 1 0 "" nsv5873598 1 14376536 14376720 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363449 M 914 0 1 "" nsv1144355 1 14376611 14376670 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995106 M 2 0 1 "" KWS1 esv3585273 1 14378346 14435580 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9860536 M 2504 1 0 "" NA18618 nsv6320403 1 14382596 14394495 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051536 M 19652 0 1 "" nsv6543594 1 14383490 14383697 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247013 M 19652 0 0 "" nsv5964496 1 14396662 14396662 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352643 M 914 1 0 "" nsv5691834 1 14404957 14404957 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175187 M 3202 1 0 "" nsv5401297 1 14404957 14405008 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895381 M 3202 1 0 "" nsv4537295 1 14405184 14405185 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027887 M 10847 1 0 "" nsv5424008 1 14405856 14407215 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895383 M 3202 0 1 "" nsv4533397 1 14419070 14419071 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027897 M 10847 1 0 "" nsv6050642 1 14419074 14419074 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523393 M 405 1 0 "" nsv3319856 1 14422145 14422196 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14797614 M 14 0 1 "" HG01352 nsv5886741 1 14428892 14429038 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366785 M 914 0 1 "" nsv6333309 1 14428892 14429039 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051537 M 19652 0 1 "" nsv5433479 1 14428909 14429007 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895385 M 3202 0 1 "" nsv4037677 1 14428918 14429007 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848972 M 10847 0 1 "" nsv3200271 1 14433570 14446545 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14254323,nssv14254325,nssv14254324,nssv14254321,nssv14254326,nssv14254322,nssv14254327 M 9 0 7 "" HG00512,HG00513,HG00514,HG00732,HG00733,NA19238,NA19240 esv2573663 1 14436092 14439233 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5360365 M 1 0 1 "" NA18507 nsv819952 1 14436093 14438830 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419473 M 2 0 1 "" AK1 esv3547566 1 14436169 14438343 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9746313 M 767 0 1 "" nsv829514 1 14436261 14436764 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431794 M 31 0 1 "" AK20 nsv4458642 1 14436263 14436264 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027908 M 10847 1 0 "" nsv3520976 1 14436308 14436308 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412729,nssv14438745,nssv14386554 M 9 3 0 "" HG00514,HG00733,NA19240 nsv5618760 1 14436308 14436308 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060207 M 35 1 0 "" HG00732 nsv5686380 1 14436308 14436308 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205652,nssv17175421 M 3202 2 0 "" nsv6244337 1 14436308 14436308 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857660 M 1021 1 0 "" esv3305958 1 14436308 14436309 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7752332,essv7760986,essv7742692,essv7753864,essv7761199,essv7762927,essv7753507,essv7762098,essv7746996,essv7752181,essv7756116,essv7742581,essv7740359,essv7743378,essv7756467,essv7757903,essv7747825,essv7747376,essv7746649,essv7749458,essv7754514,essv7748195,essv7740898,essv7740711,essv7758820,essv7757610,essv7749698,essv7751546,essv7748233,essv7746231,essv7742010,essv7756960,essv7759328,essv7742210,essv7745613,essv7749958,essv7762379,essv7756760,essv7750960,essv7756552,essv7744194,essv7757452,essv7744901,essv7741926,essv7751856,essv7745094,essv7753211,essv7758154,essv7758997,essv7759946 M 185 50 0 "" NA06986,NA07000,NA07051,NA11920,NA11995,NA12043,NA12249,NA12750,NA12776,NA18501,NA18507,NA18508,NA18510,NA18516,NA18519,NA18522,NA18526,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18870,NA18912,NA18940,NA18951,NA18960,NA18964,NA19005,NA19093,NA19099,NA19114,NA19129,NA19137,NA19138,NA19225 esv3338675 1 14436308 14436316 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898676,essv8898668,essv8898685,essv8898662,essv8898664,essv8898644,essv8898679,essv8898693,essv8898663,essv8898651,essv8898656,essv8898673,essv8898687,essv8898688,essv8898691,essv8898694,essv8898649,essv8898666,essv8898639,essv8898645,essv8898682,essv8898657,essv8898650,essv8898671,essv8898642,essv8898690,essv8898677,essv8898684,essv8898680,essv8898675,essv8898667,essv8898640,essv8898641,essv8898672,essv8898665,essv8898686,essv8898654,essv8898653,essv8898683,essv8898646,essv8898652,essv8898678,essv8898655,essv8898660,essv8898689,essv8898659,essv8898674,essv8898648,essv8898643,essv8898661 M 185 50 0 "" NA06986,NA07000,NA07051,NA11920,NA11995,NA12043,NA12249,NA12750,NA12776,NA18501,NA18507,NA18508,NA18510,NA18516,NA18519,NA18522,NA18526,NA18542,NA18545,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18564,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18605,NA18608,NA18638,NA18870,NA18912,NA18940,NA18951,NA18960,NA18964,NA19005,NA19093,NA19099,NA19114,NA19129,NA19137,NA19138,NA19225 nsv5867672 1 14436308 14438240 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352939 M 914 0 1 "" nsv5427417 1 14436308 14438241 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895387 M 3202 0 1 "" nsv6329213 1 14436308 14438241 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051538 M 19652 0 1 "" nsv2801003 1 14436309 14436309 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685769 M 2 1 0 "" nsv3319213 1 14436309 14436309 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14484173,nssv14490766,nssv14491169,nssv14475373,nssv14481187 M 14 5 0 "" CHM1,HG00514,HG00733,HG01352,HG02059 nsv3058854 1 14436309 14438242 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14025378 M 2 0 1 "" CHM1 dgv8n172 1 14436309 14438371 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4432947,nsv4432946,nsv4432945 M 15 0 4 "" NB10,NB12,SMI034,SMI041 nsv4449307 1 14436309 14438939 OTHER complex Genome_in_a_Bottle 32541955 Sequencing nssv15759669 M 1 0 0 "" esv22693 1 14436311 14438948 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17238 M 40 0 21 "" NA11931,NA12044,NA12239,NA12414,NA12489,NA12749,NA12776,NA12828,NA15510,NA18505,NA18508,NA18511,NA18523,NA18858,NA18861,NA19099,NA19114,NA19129,NA19147,NA19225,NA19240 esv2744097 1 14436321 14438933 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880417,essv6816579,essv6874701,essv6686151,essv6877663,essv6692758,essv6885981,essv6950196,essv6859186,essv6847013,essv6892316,essv6784565,essv6863956,essv6810337,essv6889005,essv6675196,essv6895845,essv6906097,essv6868708,essv6929056,essv6898609,essv6720819,essv6748331,essv6801043,essv6804400,essv6668947,essv6836184,essv6722003,essv6832594,essv6666892,essv6839968,essv6738807,essv6828995,essv6780865,essv6925687,essv6813165,essv6710577,essv6821179,essv6707263,essv6669199,essv6695643,essv6742137,essv6941777,essv6843881,essv6766535,essv6753494,essv6816698,essv6843821,essv6946492,essv6913998,essv6807373,essv6744929,essv6801615,essv6776930,essv6753493,essv6967921,essv6961548,essv6733481,essv6733480,essv6689256,essv6759039,essv6972338,essv6761851,essv6714241,essv6921714,essv6933302,essv6793281,essv6876765,essv6917422,essv6703861,essv6910038,essv6750593,essv6902527,essv6761852,essv6750594 M 96 0 71 "" SSM001,SSM002,SSM004,SSM005,SSM006,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM023,SSM024,SSM027,SSM028,SSM029,SSM030,SSM031,SSM032,SSM035,SSM036,SSM037,SSM040,SSM041,SSM042,SSM043,SSM045,SSM049,SSM052,SSM053,SSM055,SSM057,SSM058,SSM061,SSM062,SSM064,SSM067,SSM068,SSM071,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM088,SSM089,SSM090,SSM092,SSM093,SSM094,SSM096,SSM097,SSM098,SSM099,SSM100 nsv957838 1 14436330 14438256 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005023 M 1 0 1 "" BILGI_BIOE nsv5580098 1 14436350 14436654 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060208 M 35 0 1 "" HG00732 nsv5882147 1 14436350 14436654 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366523 M 914 0 1 "" esv2658479 1 14436350 14436655 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5594809,essv6510130,essv6576276,essv5857507,essv5864266,essv6411996,essv5861776,essv6266409,essv5950080,essv6420999,essv5986758,essv6546864,essv5408238,essv5783801,essv6243342,essv5557218,essv6222260,essv6236333,essv6104375,essv5697602,essv6445130,essv5443866,essv6396525,essv6200454,essv6560356,essv5890461,essv5895722,essv6560736,essv6298142,essv5778591,essv6113401,essv5787782,essv6243941,essv6533618,essv6111630,essv5425515,essv6371528,essv5937865,essv5639386,essv5818285,essv6436074,essv6525083,essv5920895,essv6078004,essv5441612,essv5513985,essv5900011,essv6130400,essv6574742,essv6127284,essv6490811,essv5422561,essv5410477,essv5791774,essv6002018,essv5988488,essv6341985,essv6014941,essv6470726,essv5686441,essv6269536,essv5442176,essv6312989,essv5658660,essv6526881,essv6270435,essv6133182,essv6530875,essv6456260,essv5648290,essv5803579,essv5471952,essv5989010,essv6456436,essv5989088,essv6551917,essv5947559,essv6319680,essv6238973,essv6429595,essv6568162,essv5766995,essv6219656,essv5876554,essv5566189,essv5743060,essv5822025,essv5506637,essv6282232,essv6375450,essv6081899,essv5944852,essv6049645,essv6527660,essv5579336,essv5821351,essv6324840,essv5895329,essv5411858,essv6532518,essv5574834,essv5766762,essv5778753,essv5539135,essv5743797,essv5646365,essv6074839,essv6068869,essv5634429,essv6205033,essv5969289,essv5671241,essv5733027,essv6471082,essv5628879,essv6383543,essv6011320,essv6569823,essv5467583,essv5646958,essv6447746,essv6471093,essv5459732,essv6387646,essv5499825,essv5700773,essv6278125,essv5740871,essv6121819,essv6234041,essv6152627,essv6127919,essv5953941,essv5866333,essv5901044,essv6222617,essv6169630,essv6136496,essv5642231,essv6556703,essv6316387,essv5942448,essv5774428,essv6051386,essv5611219,essv6562081,essv6042618,essv6162362,essv5602075,essv6400265,essv6187056,essv6263273,essv6299061,essv5977740,essv6569696,essv5964388,essv6398590,essv5407549,essv5833452,essv5570863,essv6066151,essv6451392,essv6399702,essv5870663,essv5845804,essv5954940,essv5663418,essv5441135,essv6429555,essv5929340,essv6539454,essv6195063,essv6585410,essv6298757,essv5480350,essv6309510,essv5826427,essv6227268,essv6254672,essv5915025,essv6392349,essv6196591,essv5609122,essv6441822,essv6537752,essv5605065,essv5463465,essv6413435,essv5667274,essv5911634,essv6494179,essv5946054,essv5402829,essv6395281,essv5440648,essv5446364,essv5510542,essv5674417,essv6566127,essv5873024,essv6200355,essv5935022,essv6304156,essv5836930,essv5788800,essv6081586,essv6494587,essv6451479 M 1151 0 208 "" HG00106,HG00116,HG00142,HG00160,HG00273,HG00311,HG00334,HG00369,HG00372,HG00373,HG00427,HG00551,HG00554,HG00578,HG00641,HG00732,HG00737,HG01047,HG01055,HG01061,HG01067,HG01069,HG01124,HG01191,HG01251,HG01342,HG01377,HG01462,HG01492,HG01498,NA06986,NA07000,NA11881,NA11931,NA11995,NA12043,NA12044,NA12144,NA12154,NA12155,NA12249,NA12286,NA12348,NA12749,NA12750,NA12775,NA12777,NA12778,NA12828,NA12830,NA12889,NA12890,NA18486,NA18501,NA18505,NA18511,NA18523,NA18526,NA18536,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18561,NA18563,NA18567,NA18570,NA18573,NA18576,NA18577,NA18579,NA18592,NA18603,NA18610,NA18617,NA18622,NA18628,NA18636,NA18638,NA18861,NA18867,NA18870,NA18874,NA18940,NA18942,NA18947,NA18949,NA18950,NA18953,NA18956,NA18959,NA18960,NA18965,NA18968,NA18972,NA18973,NA18975,NA18976,NA18977,NA18986,NA18987,NA18988,NA18991,NA19000,NA19005,NA19009,NA19054,NA19062,NA19064,NA19065,NA19072,NA19079,NA19081,NA19084,NA19087,NA19088,NA19098,NA19099,NA19114,NA19116,NA19119,NA19129,NA19137,NA19138,NA19147,NA19153,NA19189,NA19210,NA19225,NA19238,NA19240,NA19248,NA19316,NA19318,NA19327,NA19332,NA19350,NA19374,NA19376,NA19381,NA19397,NA19403,NA19428,NA19467,NA19469,NA19648,NA19651,NA19654,NA19655,NA19660,NA19661,NA19664,NA19679,NA19681,NA19682,NA19684,NA19685,NA19717,NA19722,NA19725,NA19726,NA19732,NA19746,NA19747,NA19749,NA19750,NA19755,NA19759,NA19770,NA19771,NA19776,NA19780,NA19782,NA19785,NA19788,NA19789,NA19818,NA19835,NA19900,NA19920,NA19921,NA20282,NA20340,NA20502,NA20505,NA20506,NA20518,NA20522,NA20524,NA20534,NA20539,NA20542,NA20544,NA20585,NA20586,NA20753,NA20766,NA20772,NA20773,NA20783,NA20786,NA20805,NA20811,NA20812,NA20818,NA20828 nsv2800770 1 14436351 14436655 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13687313 M 2 0 1 "" nsv3320277 1 14436351 14436655 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474333,nssv14475543,nssv14488509,nssv14491909,nssv14472864 M 14 0 5 "" CHM1,HG00514,HG00733,HG01352,HG02059 nsv5423403 1 14436354 14436655 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895388 M 3202 0 1 "" nsv3183591 1 14436354 14436659 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378423 M 9 0 0 "" NA19240 dgv142n54 1 14436368 14438213 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545570,nsv545571 M 17421 0 2 "" dgv143n54 1 14436368 14438897 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545573,nsv545572,nsv545574,nsv545575 M 17421 0 14 "" nsv5536841 1 14436606 14436655 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895389 M 3202 1 0 "" nsv1140407 1 14436655 14438565 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979113 M 2 1 0 "" KWS2 esv6543 1 14436838 14439179 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28984 M 1 0 0 "" dgv144n54 1 14436961 14438897 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545581,nsv545580,nsv545579,nsv545578,nsv545577,nsv545576,nsv545582 M 17421 0 212 "" esv3547677 1 14437000 14438987 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9746424 M 767 0 1 "" esv3429 1 14437040 14439028 CNV loss Wang_et_al_2008 18987735 Sequencing essv25870 M 1 0 1 "" YH dgv18n67 1 14437049 14438114 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv829537,nsv829525 M 31 0 2 "" NA18547,NA18949 nsv829548 1 14437049 14438804 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1421444,nssv1440802,nssv1436328,nssv1423978,nssv1437928,nssv1423396,nssv1440119,nssv1432529,nssv1434158,nssv1428816,nssv1431058,nssv1426373,nssv1434861,nssv1431795,nssv1423945,nssv1432008,nssv1433411,nssv1430332,nssv1422359,nssv1423109 M 31 0 20 "" AK12,AK16,AK18,AK20,AK6,NA18526,NA18542,NA18552,NA18564,NA18570,NA18582,NA18592,NA18942,NA18947,NA18951,NA18968,NA18969,NA18972,NA18997,NA18999 nsv5572188 1 14437072 14438938 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060209 M 35 0 1 "" HG00732 nsv5875448 1 14437072 14438938 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366490 M 914 0 1 "" nsv1137731 1 14437072 14438939 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982416,nssv3969751 M 2 0 2 "" KWS1,KWS2 dgv114n152 1 14437072 14438942 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3190199,nsv3180396 M 9 0 0 "" HG00514,HG00733,NA19240 nsv2801004 1 14437073 14438939 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13689761 M 2 0 1 "" nsv3319405 1 14437073 14438939 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473224,nssv14475322,nssv14480288,nssv14490459,nssv14480708,nssv14473548,nssv14481205 M 14 0 7 "" CHM1,HG00514,HG00733,HG01352,HG02059,NA19240,NA19434 nsv4390859 1 14437073 14438939 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15704071 M 174 0 1 "" nsv5981062 1 14437074 14438247 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534885 M 405 0 1 "" nsv3247126 1 14437074 14438939 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14337800,nssv14337796,nssv14337801,nssv14337795,nssv14337798,nssv14337799,nssv14337797 M 9 0 0 "" HG00512,HG00513,HG00514,HG00732,HG00733,NA19238,NA19240 esv3585274 1 14437074 14438948 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing 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M 2504 0 1426 "" 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NA19682,NA19704,NA19707,NA19711,NA19713,NA19722,NA19725,NA19726,NA19732,NA19734,NA19735,NA19740,NA19746,NA19747,NA19749,NA19750,NA19758,NA19759,NA19770,NA19776,NA19780,NA19782,NA19785,NA19792,NA19795,NA19818,NA19819,NA19835,NA19900,NA19904,NA19909,NA19913,NA19914,NA19916,NA19920,NA19921,NA19922,NA19982,NA20126,NA20274,NA20276,NA20278,NA20281,NA20282,NA20287,NA20299,NA20317,NA20318,NA20320,NA20321,NA20332,NA20340,NA20356,NA20357,NA20412,NA20502,NA20504,NA20505,NA20506,NA20507,NA20508,NA20511,NA20512,NA20513,NA20514,NA20517,NA20518,NA20519,NA20521,NA20522,NA20524,NA20528,NA20529,NA20530,NA20534,NA20535,NA20539,NA20542,NA20544,NA20581,NA20585,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20758,NA20759,NA20760,NA20763,NA20766,NA20767,NA20768,NA20770,NA20771,NA20772,NA20773,NA20783,NA20786,NA20792,NA20799,NA20800,NA20804,NA20805,NA20806,NA20811,NA20812,NA20818,NA20821,NA20822,NA20827,NA20828,NA20845,NA20851,NA20852,NA20854,NA20856,NA20859,NA20862,NA20864,NA20866,NA20867,NA20868,NA20869,NA20870,NA20872,NA20874,NA20881,NA20884,NA20886,NA20887,NA20888,NA20889,NA20891,NA20894,NA20896,NA20897,NA20900,NA20901,NA20902,NA20904,NA20908,NA20910,NA21087,NA21089,NA21090,NA21092,NA21099,NA21100,NA21101,NA21102,NA21103,NA21105,NA21109,NA21111,NA21112,NA21114,NA21115,NA21117,NA21119,NA21120,NA21122,NA21124,NA21125,NA21127,NA21128,NA21129,NA21130,NA21135,NA21137,NA21141,NA21142,NA21143 nsv4432948 1 14437075 14438939 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15746617,nssv15748763,nssv15748603,nssv15752468,nssv15746130 M 15 0 5 "" BTQ016,BTQ038,MDQ010,MDQ025,SMI018 nsv5828294 1 14437120 14438219 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456155 M 914 0 0 "" esv2677400 1 14437512 14437716 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6065716,essv5628727,essv6113450,essv5990445,essv5941385,essv5874531,essv6140255,essv6359458,essv5560236,essv6222395,essv5644839,essv6592622,essv6143735,essv5778779,essv6021772,essv6517718,essv6417617,essv5595420,essv5442038,essv5904317,essv6326244,essv5834649,essv5538382,essv6544902,essv6248143,essv6259107,essv5471761,essv6472226,essv5942437,essv5938624,essv6423008,essv5772277,essv5861392,essv6292668,essv5671721,essv6342801,essv6484428,essv5937378,essv6122453,essv6456208,essv5441316,essv6595361,essv5548161,essv5518985,essv6127682,essv5979272,essv5900793,essv5655773,essv6551479,essv6036512,essv6384998,essv5586169,essv6275862,essv5402373,essv6101865,essv6528471,essv6570147,essv5822928,essv6100090,essv6343689,essv5466880,essv6028013,essv6034072,essv6177462,essv6487794,essv6149977,essv5959331,essv6346411,essv6086855,essv5524318,essv5888222,essv6589918,essv5746743,essv6036664,essv6252496,essv5993369,essv6077539,essv5405144,essv6367040,essv6310608,essv5598006,essv5786310,essv5547690,essv6529141,essv6434686,essv6118078,essv5708496,essv5618947,essv6169547,essv6152393,essv5892058,essv5448598,essv6325102,essv5839384,essv6573044,essv6164033,essv6193204,essv6130781,essv5695769,essv5709988,essv5524694,essv6503483,essv5737062,essv6347817,essv6183701,essv5568667,essv6356682,essv6405232,essv6567561,essv5840147,essv5547575,essv5970446,essv6061655,essv5730999,essv5409996,essv5980797,essv6308533,essv5891934,essv5585011,essv6112750,essv6320598,essv6107622,essv5415353,essv5800934,essv5651965,essv5569084,essv6407325,essv5934737,essv5710074,essv6307394,essv5915475,essv6478830,essv5915972,essv5521310,essv5814014,essv5420530,essv6369046,essv6355280,essv5939475,essv5965364,essv6026122,essv6323428,essv5499052,essv5564504,essv5683122,essv6481196,essv6468034,essv5763813,essv5640444,essv5839816,essv5956035,essv5908728,essv6088386,essv6339190,essv6442110,essv5596257,essv5738170,essv5506600,essv5631451,essv6055844,essv6388711,essv6464349,essv5701932,essv6254369,essv5930305,essv5486438,essv5856589,essv6110530,essv6342060,essv5677972,essv5625772,essv5443227,essv5412839,essv5397688,essv5766320,essv6431926,essv6508619,essv6191892,essv5458992,essv6231083,essv6276570,essv5628791,essv6459838,essv6435412,essv5645927,essv6220751,essv5498732,essv5856356,essv6197223,essv5398510,essv5915192,essv5585364,essv6457005,essv5448832,essv5440330,essv6298256,essv5778389,essv5707098,essv5682418,essv6450142,essv6271796,essv5680499,essv5713827,essv6197434,essv5906104,essv6258105,essv6370951,essv5892108,essv5713706,essv5519197,essv5685867,essv5630101,essv5771723,essv5774263,essv5495711,essv5620167,essv6150885,essv6430667,essv6176099,essv6424159,essv6264265,essv5675346,essv5674930,essv6319531,essv6019825,essv5826134,essv5502748,essv5699817,essv6365053,essv6151162,essv5500963,essv5829006,essv6081638,essv6439781,essv5841214,essv5820336,essv5405056,essv5556157,essv6556804,essv6171076,essv5876024,essv5647586,essv5587602,essv5884032,essv5496036,essv5757322,essv5702276,essv5400492,essv5520162,essv5802912,essv5414474,essv6369856,essv5881915,essv6471064,essv6313364,essv5418688,essv5974397,essv5978131,essv5797254,essv5411800,essv6394135,essv6577593,essv6082228,essv6495051,essv6544048,essv5942105,essv6271329,essv6495621,essv5530845,essv6232736,essv5692977,essv6470357,essv6479660,essv5809894,essv6412982,essv6003910,essv6299587,essv6408099,essv5687679,essv6006628,essv5893532,essv5698356,essv5710140,essv5515656,essv5796252,essv5652119,essv5600708,essv6479751,essv6168192,essv6053800,essv5458150,essv5848759,essv5631438,essv6122429,essv5779009,essv5437968,essv6544020,essv6286874,essv5857567,essv6000543,essv6219991,essv5483604,essv6570764,essv5985115,essv5906621,essv5927777,essv5607825,essv5427397,essv6363755,essv6056942,essv5640009,essv5819115,essv6207533,essv5620170,essv6578137,essv6086784,essv5704119,essv6362488,essv5899652,essv5698631,essv6039834,essv5963684,essv6049734,essv6019435,essv5794770,essv5576794,essv6391330,essv6538977,essv6140547,essv5974264,essv6383480,essv5517238,essv5408994,essv5861146,essv6259844,essv5838917,essv6259589,essv6275858,essv6206486,essv6445864,essv5644506,essv6561431,essv6090497,essv5680166,essv6104278,essv6499814,essv5434461,essv6587727,essv6245793,essv6295302,essv6530876,essv5629160,essv5550601,essv5979248,essv6214827,essv5479039,essv5624834,essv5535280,essv6033176,essv6421569,essv5682533,essv5989465,essv6325024,essv5780626,essv5410668,essv5816645,essv6403371,essv6016525,essv6313002,essv5467495,essv6363510,essv6313188,essv6554543,essv6321031,essv5508803,essv5571818,essv5402871,essv6350134,essv5882630,essv6160494,essv6208033,essv6037548,essv6451058,essv5631319,essv6399957,essv6106944,essv6066879,essv5644202,essv5442500,essv5929267,essv6040838,essv6043143,essv6436608,essv6274764,essv6013089,essv5761148,essv6314106,essv5676464,essv5899716,essv5797738,essv5833316,essv5628747,essv5667110,essv5963942,essv6183618,essv5726426,essv5676907,essv5731030,essv6102880,essv5761655,essv5649489,essv5543560,essv6473329,essv6099485,essv5464963,essv6390933,essv5619174,essv6276064,essv6542661,essv5502621,essv6253317,essv5515663,essv6191346,essv5557097,essv6389098,essv6508555,essv5564662,essv5437595,essv5472482,essv5703494,essv6029437,essv5931573,essv6491931,essv5461283,essv6317779,essv5553199,essv6519740,essv5395937,essv5526644,essv6050474,essv6275336,essv5604639,essv5955110,essv5586241,essv6045960,essv6110385,essv5514594,essv5843711,essv6542565,essv6166730,essv5615572,essv5716197,essv6242591,essv6462959,essv5576685,essv6224472,essv5492739,essv6508194,essv6143816,essv5810404,essv5682403,essv5461549,essv5961553,essv6568615,essv6108664,essv5726413,essv5552025,essv5851579,essv5878923,essv6050190,essv5851208,essv6146889,essv6216279,essv6268029,essv6356202,essv6367282,essv6498960,essv5485977,essv6306526,essv5981021,essv6406985,essv6015787,essv5878549,essv5623263,essv6199662,essv6296696,essv6245720,essv6255202,essv5434603,essv6059496,essv5837895,essv5604363,essv5731341,essv6441784,essv5846540,essv5429233,essv6333086,essv5853299,essv5939906,essv6159664,essv6029052,essv6090725,essv5750239,essv6322611,essv6164760,essv5715356,essv5743748,essv5635174 M 1151 0 508 "" HG00100,HG00106,HG00112,HG00114,HG00116,HG00119,HG00122,HG00125,HG00126,HG00131,HG00137,HG00140,HG00142,HG00151,HG00152,HG00154,HG00160,HG00177,HG00179,HG00182,HG00183,HG00185,HG00186,HG00188,HG00189,HG00190,HG00232,HG00237,HG00242,HG00245,HG00246,HG00247,HG00249,HG00253,HG00258,HG00260,HG00263,HG00266,HG00269,HG00270,HG00271,HG00272,HG00273,HG00278,HG00281,HG00282,HG00310,HG00311,HG00312,HG00319,HG00321,HG00324,HG00326,HG00329,HG00330,HG00334,HG00339,HG00357,HG00361,HG00369,HG00372,HG00373,HG00377,HG00403,HG00404,HG00419,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00537,HG00543,HG00553,HG00554,HG00556,HG00557,HG00559,HG00560,HG00566,HG00577,HG00578,HG00580,HG00581,HG00583,HG00584,HG00590,HG00593,HG00596,HG00607,HG00608,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00628,HG00629,HG00635,HG00637,HG00641,HG00650,HG00651,HG00653,HG00654,HG00656,HG00662,HG00663,HG00671,HG00672,HG00683,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG00732,HG00737,HG00740,HG01047,HG01051,HG01055,HG01061,HG01067,HG01069,HG01070,HG01073,HG01075,HG01079,HG01080,HG01097,HG01102,HG01107,HG01108,HG01113,HG01124,HG01125,HG01136,HG01168,HG01171,HG01176,HG01183,HG01190,HG01191,HG01198,HG01251,HG01334,HG01342,HG01350,HG01354,HG01357,HG01359,HG01366,HG01374,HG01375,HG01377,HG01384,HG01389,HG01437,HG01462,HG01489,HG01492,HG01494,HG01522,NA06984,NA06986,NA07000,NA07048,NA07051,NA10847,NA11920,NA11931,NA11933,NA11994,NA11995,NA12003,NA12043,NA12044,NA12058,NA12144,NA12154,NA12155,NA12249,NA12286,NA12342,NA12348,NA12383,NA12400,NA12489,NA12748,NA12750,NA12775,NA12777,NA12778,NA12830,NA12843,NA12889,NA12890,NA18486,NA18501,NA18508,NA18510,NA18511,NA18516,NA18519,NA18522,NA18523,NA18526,NA18532,NA18534,NA18536,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18549,NA18550,NA18552,NA18553,NA18555,NA18558,NA18559,NA18561,NA18562,NA18564,NA18565,NA18567,NA18570,NA18572,NA18573,NA18576,NA18577,NA18582,NA18592,NA18593,NA18595,NA18596,NA18597,NA18603,NA18605,NA18606,NA18608,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18633,NA18635,NA18636,NA18637,NA18638,NA18853,NA18858,NA18861,NA18867,NA18870,NA18874,NA18912,NA18934,NA18940,NA18942,NA18947,NA18949,NA18950,NA18951,NA18953,NA18956,NA18959,NA18960,NA18963,NA18964,NA18965,NA18973,NA18977,NA18982,NA18983,NA18985,NA18986,NA18987,NA18988,NA18999,NA19000,NA19004,NA19005,NA19007,NA19009,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19067,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088,NA19093,NA19099,NA19114,NA19116,NA19129,NA19130,NA19137,NA19138,NA19147,NA19189,NA19197,NA19213,NA19223,NA19225,NA19235,NA19248,NA19256,NA19312,NA19313,NA19316,NA19332,NA19338,NA19347,NA19350,NA19360,NA19372,NA19373,NA19374,NA19375,NA19376,NA19377,NA19381,NA19391,NA19395,NA19396,NA19397,NA19398,NA19399,NA19403,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19438,NA19443,NA19445,NA19446,NA19449,NA19451,NA19452,NA19457,NA19462,NA19466,NA19467,NA19468,NA19469,NA19470,NA19474,NA19648,NA19651,NA19652,NA19654,NA19655,NA19660,NA19661,NA19664,NA19675,NA19679,NA19681,NA19682,NA19685,NA19704,NA19707,NA19711,NA19713,NA19722,NA19725,NA19726,NA19746,NA19749,NA19755,NA19776,NA19780,NA19782,NA19818,NA19819,NA19835,NA19900,NA19904,NA19909,NA19914,NA19916,NA19920,NA19921,NA19982,NA20317,NA20502,NA20504,NA20505,NA20506,NA20507,NA20508,NA20512,NA20513,NA20518,NA20519,NA20521,NA20522,NA20528,NA20529,NA20530,NA20534,NA20535,NA20542,NA20544,NA20581,NA20585,NA20586,NA20588,NA20589,NA20753,NA20754,NA20756,NA20758,NA20759,NA20760,NA20766,NA20768,NA20770,NA20771,NA20772,NA20773,NA20786,NA20792,NA20799,NA20804,NA20805,NA20806,NA20811,NA20812,NA20816,NA20818,NA20828 dgv145n54 1 14437559 14439042 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545584,nsv545585,nsv545583,nsv545586 M 17421 0 11 "" esv3585275 1 14437868 14438136 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing 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M 2504 0 1432 "" HG00100,HG00105,HG00106,HG00107,HG00112,HG00113,HG00114,HG00116,HG00119,HG00121,HG00122,HG00125,HG00126,HG00127,HG00128,HG00130,HG00131,HG00137,HG00140,HG00142,HG00145,HG00151,HG00154,HG00157,HG00160,HG00177,HG00179,HG00182,HG00183,HG00185,HG00186,HG00188,HG00189,HG00190,HG00232,HG00233,HG00237,HG00238,HG00240,HG00242,HG00245,HG00246,HG00250,HG00253,HG00258,HG00260,HG00263,HG00266,HG00269,HG00271,HG00272,HG00273,HG00278,HG00281,HG00282,HG00304,HG00310,HG00311,HG00319,HG00321,HG00324,HG00326,HG00329,HG00330,HG00332,HG00334,HG00339,HG00341,HG00351,HG00357,HG00360,HG00361,HG00365,HG00369,HG00371,HG00372,HG00373,HG00379,HG00380,HG00381,HG00382,HG00383,HG00403,HG00404,HG00406,HG00407,HG00410,HG00419,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00451,HG00452,HG00457,HG00458,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00500,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00537,HG00543,HG00551,HG00553,HG00554,HG00556,HG00557,HG00559,HG00560,HG00566,HG00580,HG00581,HG00583,HG00584,HG00590,HG00593,HG00596,HG00598,HG00599,HG00607,HG00608,HG00611,HG00613,HG00614,HG00619,HG00620,HG00622,HG00623,HG00625,HG00628,HG00629,HG00631,HG00637,HG00638,HG00641,HG00650,HG00651,HG00653,HG00654,HG00656,HG00662,HG00663,HG00671,HG00672,HG00674,HG00675,HG00683,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00704,HG00705,HG00707,HG00708,HG00717,HG00728,HG00729,HG00732,HG00737,HG00759,HG00766,HG00844,HG00851,HG00864,HG00867,HG00879,HG00881,HG00956,HG00978,HG00982,HG01029,HG01031,HG01046,HG01047,HG01049,HG01051,HG01055,HG01058,HG01061,HG01063,HG01064,HG01067,HG01069,HG01070,HG01073,HG01075,HG01079,HG01080,HG01085,HG01092,HG01094,HG01097,HG01102,HG01104,HG01107,HG01108,HG01111,HG01113,HG01122,HG01124,HG01125,HG01130,HG01131,HG01136,HG01139,HG01142,HG01161,HG01164,HG01168,HG01171,HG01173,HG01176,HG01177,HG01183,HG01190,HG01191,HG01198,HG01250,HG01251,HG01254,HG01259,HG01271,HG01280,HG01286,HG01303,HG01305,HG01308,HG01312,HG01325,HG01334,HG01341,HG01342,HG01344,HG01348,HG01350,HG01354,HG01357,HG01359,HG01360,HG01362,HG01366,HG01374,HG01375,HG01377,HG01384,HG01389,HG01392,HG01395,HG01402,HG01405,HG01437,HG01443,HG01444,HG01447,HG01456,HG01459,HG01462,HG01468,HG01474,HG01479,HG01485,HG01486,HG01489,HG01492,HG01494,HG01495,HG01498,HG01500,HG01503,HG01504,HG01507,HG01512,HG01513,HG01515,HG01518,HG01519,HG01522,HG01531,HG01536,HG01537,HG01550,HG01551,HG01556,HG01565,HG01566,HG01571,HG01572,HG01578,HG01589,HG01593,HG01595,HG01596,HG01597,HG01598,HG01599,HG01600,HG01602,HG01603,HG01606,HG01612,HG01617,HG01620,HG01623,HG01624,HG01625,HG01628,HG01630,HG01669,HG01672,HG01673,HG01675,HG01684,HG01685,HG01694,HG01695,HG01697,HG01708,HG01709,HG01710,HG01757,HG01761,HG01762,HG01766,HG01767,HG01768,HG01776,HG01779,HG01789,HG01790,HG01795,HG01797,HG01798,HG01800,HG01801,HG01802,HG01806,HG01808,HG01809,HG01810,HG01811,HG01812,HG01813,HG01815,HG01816,HG01817,HG01840,HG01842,HG01843,HG01844,HG01845,HG01846,HG01848,HG01850,HG01852,HG01853,HG01855,HG01858,HG01859,HG01860,HG01861,HG01862,HG01863,HG01864,HG01867,HG01869,HG01870,HG01872,HG01873,HG01874,HG01878,HG01880,HG01883,HG01889,HG01890,HG01893,HG01896,HG01912,HG01914,HG01915,HG01918,HG01920,HG01923,HG01924,HG01926,HG01936,HG01942,HG01944,HG01945,HG01947,HG01948,HG01950,HG01954,HG01961,HG01965,HG01980,HG01986,HG01988,HG01989,HG01991,HG01992,HG02003,HG02008,HG02013,HG02014,HG02016,HG02017,HG02020,HG02023,HG02025,HG02026,HG02028,HG02029,HG02032,HG02035,HG02040,HG02047,HG02048,HG02049,HG02051,HG02052,HG02053,HG02057,HG02058,HG02060,HG02061,HG02064,HG02067,HG02072,HG02073,HG02075,HG02076,HG02078,HG02079,HG02081,HG02082,HG02084,HG02085,HG02086,HG02087,HG02088,HG02089,HG02090,HG02095,HG02102,HG02113,HG02121,HG02122,HG02127,HG02131,HG02133,HG02134,HG02136,HG02137,HG02138,HG02139,HG02140,HG02141,HG02142,HG02143,HG02144,HG02146,HG02151,HG02153,HG02155,HG02156,HG02164,HG02165,HG02178,HG02179,HG02180,HG02181,HG02182,HG02185,HG02186,HG02188,HG02190,HG02215,HG02219,HG02220,HG02223,HG02230,HG02233,HG02239,HG02250,HG02252,HG02253,HG02256,HG02262,HG02266,HG02274,HG02275,HG02281,HG02298,HG02308,HG02309,HG02314,HG02317,HG02323,HG02330,HG02337,HG02339,HG02343,HG02348,HG02351,HG02353,HG02355,HG02356,HG02364,HG02367,HG02371,HG02373,HG02374,HG02375,HG02379,HG02380,HG02382,HG02384,HG02385,HG02386,HG02390,HG02392,HG02395,HG02396,HG02398,HG02399,HG02401,HG02407,HG02408,HG02409,HG02410,HG02420,HG02427,HG02429,HG02433,HG02439,HG02449,HG02450,HG02455,HG02465,HG02471,HG02476,HG02477,HG02479,HG02481,HG02484,HG02485,HG02491,HG02496,HG02497,HG02502,HG02508,HG02511,HG02513,HG02521,HG02522,HG02537,HG02545,HG02554,HG02557,HG02558,HG02561,HG02562,HG02568,HG02571,HG02580,HG02582,HG02594,HG02601,HG02603,HG02604,HG02611,HG02613,HG02623,HG02624,HG02629,HG02645,HG02646,HG02648,HG02651,HG02652,HG02655,HG02657,HG02658,HG02666,HG02675,HG02679,HG02685,HG02687,HG02688,HG02691,HG02696,HG02697,HG02702,HG02703,HG02724,HG02727,HG02731,HG02733,HG02736,HG02757,HG02759,HG02760,HG02768,HG02769,HG02771,HG02774,HG02775,HG02778,HG02780,HG02783,HG02784,HG02786,HG02790,HG02792,HG02798,HG02799,HG02805,HG02807,HG02808,HG02811,HG02814,HG02817,HG02837,HG02855,HG02879,HG02882,HG02885,HG02896,HG02922,HG02941,HG02946,HG02953,HG02971,HG02973,HG02974,HG02976,HG02979,HG02981,HG03009,HG03015,HG03016,HG03018,HG03027,HG03039,HG03040,HG03052,HG03054,HG03055,HG03060,HG03061,HG03063,HG03064,HG03069,HG03077,HG03078,HG03081,HG03085,HG03086,HG03088,HG03091,HG03095,HG03096,HG03099,HG03105,HG03108,HG03109,HG03111,HG03112,HG03114,HG03115,HG03123,HG03127,HG03129,HG03130,HG03132,HG03133,HG03136,HG03139,HG03157,HG03159,HG03162,HG03163,HG03168,HG03169,HG03172,HG03175,HG03190,HG03196,HG03202,HG03212,HG03224,HG03228,HG03229,HG03235,HG03240,HG03265,HG03270,HG03271,HG03279,HG03280,HG03291,HG03294,HG03298,HG03301,HG03313,HG03363,HG03367,HG03370,HG03372,HG03378,HG03388,HG03394,HG03410,HG03419,HG03428,HG03436,HG03439,HG03455,HG03457,HG03458,HG03460,HG03461,HG03470,HG03472,HG03476,HG03478,HG03479,HG03485,HG03490,HG03499,HG03514,HG03517,HG03518,HG03547,HG03557,HG03559,HG03563,HG03565,HG03571,HG03575,HG03577,HG03585,HG03589,HG03594,HG03595,HG03607,HG03611,HG03615,HG03624,HG03631,HG03642,HG03645,HG03646,HG03649,HG03652,HG03663,HG03667,HG03681,HG03686,HG03689,HG03691,HG03693,HG03694,HG03695,HG03696,HG03698,HG03705,HG03708,HG03717,HG03718,HG03720,HG03727,HG03736,HG03740,HG03741,HG03744,HG03746,HG03752,HG03755,HG03760,HG03762,HG03771,HG03773,HG03774,HG03775,HG03778,HG03779,HG03781,HG03788,HG03790,HG03792,HG03802,HG03805,HG03809,HG03815,HG03817,HG03826,HG03829,HG03836,HG03837,HG03844,HG03846,HG03848,HG03849,HG03850,HG03862,HG03863,HG03864,HG03866,HG03867,HG03868,HG03869,HG03870,HG03873,HG03874,HG03882,HG03885,HG03887,HG03888,HG03890,HG03895,HG03898,HG03908,HG03911,HG03914,HG03916,HG03917,HG03925,HG03926,HG03928,HG03931,HG03934,HG03951,HG03953,HG03955,HG03960,HG03965,HG03968,HG03973,HG03974,HG03976,HG03977,HG03989,HG03990,HG03991,HG03999,HG04002,HG04003,HG04006,HG04014,HG04015,HG04019,HG04022,HG04025,HG04026,HG04029,HG04033,HG04035,HG04038,HG04047,HG04056,HG04059,HG04060,HG04061,HG04070,HG04075,HG04080,HG04090,HG04099,HG04106,HG04107,HG04118,HG04134,HG04141,HG04144,HG04146,HG04152,HG04155,HG04156,HG04159,HG04161,HG04162,HG04173,HG04176,HG04180,HG04182,HG04183,HG04188,HG04189,HG04195,HG04198,HG04200,HG04206,HG04225,HG04229,NA06984,NA06986,NA06994,NA07000,NA07048,NA07051,NA10847,NA11881,NA11920,NA11931,NA11933,NA11994,NA11995,NA12005,NA12043,NA12044,NA12058,NA12144,NA12154,NA12155,NA12249,NA12286,NA12342,NA12348,NA12383,NA12400,NA12414,NA12489,NA12748,NA12749,NA12750,NA12760,NA12762,NA12775,NA12776,NA12777,NA12778,NA12812,NA12813,NA12814,NA12828,NA12830,NA12843,NA12872,NA12873,NA12874,NA12889,NA12890,NA18486,NA18489,NA18501,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18519,NA18522,NA18523,NA18525,NA18526,NA18528,NA18531,NA18532,NA18533,NA18534,NA18536,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18549,NA18550,NA18552,NA18553,NA18555,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18565,NA18567,NA18570,NA18572,NA18573,NA18577,NA18582,NA18591,NA18592,NA18593,NA18595,NA18596,NA18597,NA18603,NA18605,NA18606,NA18608,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18624,NA18625,NA18626,NA18627,NA18628,NA18629,NA18630,NA18633,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18644,NA18645,NA18646,NA18648,NA18745,NA18748,NA18749,NA18757,NA18853,NA18858,NA18861,NA18867,NA18870,NA18874,NA18876,NA18878,NA18879,NA18881,NA18912,NA18915,NA18924,NA18934,NA18940,NA18942,NA18946,NA18947,NA18949,NA18950,NA18951,NA18953,NA18954,NA18956,NA18957,NA18959,NA18960,NA18962,NA18963,NA18964,NA18965,NA18966,NA18968,NA18969,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18982,NA18983,NA18985,NA18986,NA18987,NA18988,NA18991,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19004,NA19005,NA19006,NA19007,NA19009,NA19010,NA19012,NA19019,NA19020,NA19023,NA19024,NA19026,NA19028,NA19031,NA19036,NA19037,NA19038,NA19041,NA19042,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19067,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19081,NA19082,NA19083,NA19084,NA19085,NA19086,NA19087,NA19088,NA19089,NA19090,NA19093,NA19096,NA19098,NA19099,NA19113,NA19114,NA19116,NA19117,NA19119,NA19129,NA19130,NA19137,NA19138,NA19141,NA19143,NA19147,NA19149,NA19153,NA19159,NA19175,NA19184,NA19189,NA19197,NA19200,NA19201,NA19206,NA19207,NA19210,NA19213,NA19214,NA19223,NA19225,NA19235,NA19238,NA19248,NA19256,NA19308,NA19310,NA19312,NA19314,NA19315,NA19316,NA19318,NA19319,NA19321,NA19327,NA19331,NA19332,NA19338,NA19350,NA19360,NA19372,NA19374,NA19375,NA19376,NA19377,NA19378,NA19391,NA19395,NA19397,NA19399,NA19403,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19437,NA19438,NA19443,NA19445,NA19446,NA19449,NA19451,NA19452,NA19454,NA19457,NA19466,NA19467,NA19468,NA19474,NA19648,NA19651,NA19652,NA19654,NA19655,NA19661,NA19664,NA19669,NA19670,NA19679,NA19681,NA19682,NA19704,NA19707,NA19711,NA19713,NA19722,NA19725,NA19726,NA19732,NA19734,NA19735,NA19740,NA19746,NA19747,NA19749,NA19750,NA19758,NA19759,NA19770,NA19776,NA19780,NA19782,NA19785,NA19792,NA19795,NA19818,NA19819,NA19835,NA19900,NA19904,NA19909,NA19913,NA19914,NA19916,NA19920,NA19921,NA19922,NA19982,NA20126,NA20274,NA20276,NA20278,NA20281,NA20282,NA20287,NA20291,NA20296,NA20298,NA20299,NA20317,NA20318,NA20320,NA20321,NA20332,NA20340,NA20356,NA20357,NA20412,NA20502,NA20504,NA20505,NA20506,NA20507,NA20508,NA20511,NA20512,NA20513,NA20514,NA20517,NA20518,NA20519,NA20521,NA20522,NA20524,NA20528,NA20529,NA20530,NA20534,NA20535,NA20539,NA20542,NA20544,NA20581,NA20585,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20756,NA20758,NA20759,NA20760,NA20763,NA20766,NA20767,NA20768,NA20770,NA20771,NA20772,NA20773,NA20783,NA20786,NA20792,NA20799,NA20800,NA20804,NA20805,NA20806,NA20811,NA20812,NA20818,NA20821,NA20822,NA20827,NA20828,NA20845,NA20851,NA20852,NA20854,NA20856,NA20859,NA20862,NA20864,NA20866,NA20867,NA20868,NA20869,NA20870,NA20872,NA20874,NA20881,NA20884,NA20886,NA20887,NA20888,NA20889,NA20891,NA20894,NA20896,NA20897,NA20900,NA20901,NA20902,NA20904,NA20908,NA20910,NA21087,NA21089,NA21090,NA21092,NA21099,NA21100,NA21101,NA21102,NA21103,NA21105,NA21109,NA21111,NA21112,NA21114,NA21115,NA21117,NA21119,NA21120,NA21122,NA21124,NA21125,NA21127,NA21128,NA21129,NA21130,NA21135,NA21137,NA21141,NA21142,NA21143 esv3660138 1 14438565 14438940 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16483327 M 20 0 0 "" esv3661081 1 14442291 14442291 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484177 M 20 1 0 "" nsv4043427 1 14454258 14460287 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846950 M 10847 0 1 "" esv3585276 1 14454385 14465055 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863395 M 2504 0 1 "" NA19308 esv3585277 1 14454385 14465055 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863396 M 2504 1 0 "" NA18618 esv2744108 1 14454785 14454923 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6941778 M 96 0 1 "" SSM023 esv2764190 1 14455748 14464952 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005013,essv7005012,essv7005009,essv7005010,essv7005014,essv7005015 M 1109 0 6 "" RW_0018,RW_0042,RW_0067,RW_0142,RW_0189,RW_0518 nsv4038022 1 14456193 14459281 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846958 M 10847 0 1 "" esv3585278 1 14457833 14465198 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863397 M 2504 0 1 "" NA19308 nsv5419831 1 14457851 14465142 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895391 M 3202 0 1 "" nsv6547613 1 14470950 14471839 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247014 M 19652 0 0 "" nsv6546470 1 14471099 14471629 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247015 M 19652 0 0 "" nsv5716038 1 14471186 14471186 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17251680 M 3202 1 0 "" nsv6319235 1 14472046 14475749 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051539 M 19652 0 1 "" nsv4458921 1 14474963 14474964 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027918 M 10847 1 0 "" nsv6317284 1 14484859 14489830 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051540 M 19652 0 1 "" esv3367782 1 14497228 14497228 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740936 M 185 1 0 "" NA19240 nsv4042990 1 14500162 14501076 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846968 M 10847 0 1 "" nsv5423944 1 14506288 14506440 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895392 M 3202 1 0 "" nsv6318847 1 14506507 14506947 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051541 M 19652 0 1 "" nsv5426568 1 14508880 14509298 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895393 M 3202 1 0 "" nsv4458922 1 14508887 14508888 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026241 M 10847 1 0 "" nsv6329422 1 14510035 14512530 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051542 M 19652 0 1 "" nsv6551841 1 14532252 14533476 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247016 M 19652 0 0 "" nsv5960618 1 14532401 14532401 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354211 M 914 1 0 "" nsv4046083 1 14537877 14537953 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846978 M 10847 0 1 "" esv3661167 1 14540674 14540674 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484254 M 20 1 0 "" nsv528033 1 14541312 14546009 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704564 M 2026 0 1 "" nsv6324379 1 14541455 14543945 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051543 M 19652 0 1 "" nsv5420213 1 14543139 14543286 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895395 M 3202 1 0 "" nsv6329818 1 14544396 14546395 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051544 M 19652 0 1 "" esv3585279 1 14547913 14557127 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863398 M 2504 0 1 "" NA12058 esv2664939 1 14548055 14557092 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6179776 M 1151 0 1 "" NA12058 nsv5426444 1 14548055 14557092 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895396 M 3202 0 1 "" nsv6330906 1 14549409 14550006 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051545 M 19652 0 1 "" nsv4048515 1 14550914 14562781 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846988 M 10847 0 1 "" nsv6332886 1 14550914 14562781 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051546 M 19652 0 1 "" nsv6324173 1 14553430 14554123 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051547 M 19652 0 1 "" esv2663195 1 14560853 14564015 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5486359 M 1151 0 1 "" NA19076 esv3585280 1 14560869 14564038 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863399 M 2504 0 1 "" NA19076 nsv4048847 1 14560883 14563998 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846998 M 10847 0 1 "" nsv5423505 1 14560883 14563998 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895398 M 3202 0 1 "" esv3585281 1 14571715 14572586 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863400,essv9863401 M 2504 0 2 "" HG01873,NA21137 nsv5428117 1 14571733 14572570 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895399 M 3202 0 1 "" nsv6056541 1 14573626 14573626 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520443 M 405 1 0 "" nsv1144356 1 14576723 14576780 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995107 M 2 0 1 "" KWS1 nsv6244348 1 14580559 14580559 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857669 M 1021 1 0 "" nsv5962025 1 14584469 14584469 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17364354 M 914 1 0 "" nsv5729402 1 14584902 14584902 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17240949 M 3202 1 0 "" esv3577743 1 14586542 14596091 CNV loss Uddin_et_al_2014 25503493 SNP array essv9797977 M 873 0 1 "" 401608GE esv3661239 1 14588687 14588687 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484318 M 20 1 0 "" nsv5416957 1 14595015 14596806 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897023 M 3202 0 1 "" esv3585282 1 14595021 14596824 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863402 M 2504 0 1 "" HG01892 nsv6545610 1 14603940 14604880 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247018 M 19652 0 0 "" nsv6244359 1 14605408 14605408 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857680 M 1021 1 0 "" nsv1133812 1 14605437 14605494 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969383 M 2 0 1 "" KWS2 nsv5828295 1 14619158 14622363 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463552 M 914 0 0 "" esv3585283 1 14619205 14622520 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863404,essv9863403 M 2504 0 2 "" NA19435,NA19445 nsv5877244 1 14619221 14622440 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353635 M 914 0 1 "" esv2677279 1 14619221 14622441 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6171442,essv5983468,essv5825058 M 1151 0 3 "" NA19435,NA19445,NA19453 nsv5427741 1 14619223 14622441 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897024 M 3202 0 1 "" nsv6321818 1 14629589 14632861 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051548 M 19652 0 1 "" nsv6329392 1 14631256 14631862 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051549 M 19652 0 1 "" nsv4568720 1 14639340 14639341 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026270 M 10847 1 0 "" nsv6325388 1 14640163 14640708 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051550 M 19652 0 1 "" nsv4036693 1 14642271 14648764 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847009 M 10847 0 1 "" nsv6327810 1 14642398 14648764 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051551 M 19652 0 1 "" nsv6323907 1 14643996 14644884 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051552 M 19652 0 1 "" nsv5878177 1 14645359 14645693 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354328 M 914 0 1 "" nsv4046231 1 14645362 14645694 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848973 M 10847 0 1 "" nsv6322421 1 14648836 14649406 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051555 M 19652 0 1 "" nsv6334519 1 14650940 14651343 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051556 M 19652 0 1 "" nsv5572668 1 14657709 14658484 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060220 M 35 0 1 "" NA24385 nsv5875486 1 14657709 14658484 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368197 M 914 0 1 "" nsv3935869 1 14657709 14658485 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15180319 M 1 0 1 "" HG002 nsv4449308 1 14657709 14658485 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15756742 M 1 0 1 "" nsv6322985 1 14657711 14658485 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051557 M 19652 0 1 "" nsv6319560 1 14668620 14673487 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051559 M 19652 0 1 "" nsv460494 1 14676909 14703854 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537055 M 1557 0 1 "" 1780862466_A nsv545587 1 14676909 14703854 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173769 M 17421 0 1 "" 1780862466_A nsv520614 1 14677729 14678726 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697519 M 2026 0 1 "" nsv518697 1 14677729 14688707 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696148 M 2026 0 1 "" nsv833203 1 14679200 14720939 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1442840,nssv1442852,nssv1442885,nssv1442863,nssv1442874,nssv1442896,nssv1442940,nssv1442907,nssv1442918,nssv1442929 M 95 5 5 "" nsv6317940 1 14684661 14688203 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051937 M 19652 0 1 "" esv3585284 1 14684700 14686504 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863406,essv9863405,essv9863407 M 2504 0 3 "" HG00129,NA18934,NA19119 nsv5432965 1 14684708 14686536 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897025 M 3202 0 1 "" nsv1122301 1 14684764 14684819 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969752 M 2 0 1 "" KWS2 nsv4044136 1 14686622 14707130 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848981 M 10847 0 1 "" nsv4049906 1 14701640 14701725 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963036 M 10847 1 0 "" nsv5417845 1 14712880 14824880 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897026 M 3202 1 0 "" esv3585285 1 14713511 14743602 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863408 M 2504 1 0 "" NA18618 nsv6320601 1 14714732 14718424 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051943 M 19652 0 1 "" nsv6321743 1 14716453 14717026 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201201 M 19652 1 0 "" nsv5687088 1 14721142 14721142 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17176124 M 3202 1 0 "" nsv5404566 1 14721142 14721193 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897027 M 3202 1 0 "" esv3667974 1 14721567 14721639 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16466009 M 20 0 1 "" nsv4047268 1 14722774 14726984 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848992 M 10847 0 1 "" nsv6554178 1 14728218 14728314 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247023 M 19652 0 0 "" nsv6331707 1 14731097 14734596 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051945 M 19652 0 1 "" esv3585286 1 14731108 14734670 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863409 M 2504 0 1 "" NA12761 esv2664734 1 14731112 14734654 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5738570 M 1151 0 1 "" NA12761 nsv5421538 1 14731117 14734654 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897028 M 3202 0 1 "" nsv4568562 1 14731698 14731699 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026880 M 10847 1 0 "" nsv6333669 1 14732989 14733682 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051946 M 19652 0 1 "" esv3585287 1 14735732 14742235 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863410 M 2504 0 1 "" NA18541 esv2673563 1 14735785 14742259 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6532160 M 1151 0 1 "" NA18541 nsv5421489 1 14735785 14742259 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897029 M 3202 0 1 "" nsv4562694 1 14736052 14736053 CNV mobile element insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026285 M 10847 1 0 "" esv2617537 1 14738502 14740043 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5289167 M 1 0 1 "" NA18507 nsv6040633 1 14746691 14746691 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523092 M 405 1 0 "" nsv5621396 1 14747379 14747379 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060698 M 35 1 0 "" NA20509 nsv4037488 1 14763228 14772670 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849006 M 10847 0 1 "" nsv6244370 1 14766621 14766621 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857704 M 1021 1 0 "" esv3661328 1 14770802 14770802 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484399 M 20 1 0 "" nsv4459245 1 14782558 14782559 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026295 M 10847 1 0 "" nsv4516608 1 14788547 14788604 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846683 M 10847 0 1 "" nsv5426821 1 14791691 14793269 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897030 M 3202 0 1 "" nsv5687766 1 14793171 14793171 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17176993 M 3202 1 0 "" nsv6244381 1 14793171 14793171 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857715 M 1021 1 0 "" nsv4572365 1 14795575 14795576 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026305 M 10847 1 0 "" nsv5726034 1 14795590 14795590 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17243247,nssv17235004 M 3202 2 0 "" nsv3227065 1 14802405 14829196 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260962,nssv14260964,nssv14260959,nssv14260967,nssv14260960,nssv14260963,nssv14260965,nssv14260961,nssv14260966 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv6327212 1 14805197 14808796 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051729 M 19652 0 1 "" nsv4532931 1 14805899 14805900 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026314 M 10847 1 0 "" nsv6328125 1 14809419 14809674 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051730 M 19652 0 1 "" nsv6330153 1 14816697 14819096 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051731 M 19652 0 1 "" esv3360411 1 14819096 14819910 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652043 M 185 1 0 "" NA19240 nsv4754300 1 14819141 14819141 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16274272 M 25 1 0 "" esv3670472 1 14819161 14819161 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492629 M 20 1 0 "" nsv3534201 1 14819161 14819161 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378099,nssv14438748 M 9 2 0 "" HG00733,NA19240 nsv5609573 1 14819161 14819161 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060501 M 35 1 0 "" HG00731 nsv3056760 1 14819162 14819162 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031834 M 2 1 0 "" CHM1 nsv3320531 1 14819162 14819162 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479043,nssv14472054,nssv14488466,nssv14480132,nssv14484084,nssv14478825,nssv14474867,nssv14474787,nssv14476617,nssv14478360,nssv14473414,nssv14484671,nssv14487404,nssv14488943 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv2800474 1 14819163 14819163 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13709717 M 2 1 0 "" nsv3053475 1 14819163 14819163 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031082 M 2 1 0 "" NA12878 nsv512719 1 14819175 14819225 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625344 M 1 1 0 "" 1 nsv3541697 1 14819179 14819179 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412731 M 9 1 0 "" HG00514 nsv4533511 1 14819192 14819193 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026324 M 10847 1 0 "" nsv2800125 1 14819202 14819202 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13711014 M 2 1 0 "" nsv3538452 1 14819207 14819207 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381928,nssv14438749 M 9 2 0 "" HG00733,NA19240 nsv5621058 1 14819207 14819207 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060502 M 35 1 0 "" HG00731 nsv3940486 1 14819215 14819215 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189598 M 1 1 0 "" HG002 nsv6047400 1 14819215 14819215 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536304 M 405 1 0 "" nsv3320339 1 14819216 14819216 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489818,nssv14485457,nssv14474631,nssv14479667,nssv14479542,nssv14479193,nssv14491340,nssv14489111,nssv14487772,nssv14479790,nssv14473228,nssv14481790,nssv14481770,nssv14488109 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3064010 1 14819221 14819221 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035611 M 2 1 0 "" NA12878 nsv5981185 1 14822838 14822955 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518381 M 405 0 1 "" nsv4037743 1 14822840 14822955 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846694 M 10847 0 1 "" nsv5419804 1 14822840 14822955 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897034 M 3202 0 1 "" nsv5884825 1 14823072 14823169 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17358170 M 914 1 0 "" nsv4036677 1 14823072 14823171 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963037 M 10847 1 0 "" nsv5423028 1 14823072 14823171 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897035 M 3202 1 0 "" nsv4458982 1 14824200 14824201 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026334 M 10847 1 0 "" nsv4458983 1 14827449 14827450 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026344 M 10847 1 0 "" nsv5539035 1 14832567 14832602 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897037 M 3202 1 0 "" nsv2800475 1 14840826 14840826 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688015,nssv13691803 M 2 2 0 "" nsv3320107 1 14840826 14840826 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491154,nssv14473840,nssv14483576,nssv14486339,nssv14485056,nssv14479044,nssv14476851,nssv14478137 M 14 8 0 "" CHM1,CHM13,HG00268,HG00514,HX1,NA12878,NA19240,NA19434 nsv5614127 1 14840826 14840826 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060503 M 35 1 0 "" HG00731 nsv4752109 1 14840834 14840834 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284387 M 25 1 0 "" nsv2800476 1 14840859 14840859 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688831 M 2 1 0 "" nsv3064011 1 14840861 14840861 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017044 M 2 1 0 "" NA12878 nsv5608819 1 14840861 14840861 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060504 M 35 1 0 "" HG00513 nsv3537370 1 14840868 14840868 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386162 M 9 1 0 "" NA19240 nsv3320108 1 14840893 14840893 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489310,nssv14483304,nssv14473645,nssv14475581,nssv14485269,nssv14476724 M 14 6 0 "" CHM1,CHM13,HG00268,HG00514,HX1,NA12878 nsv3541482 1 14840903 14840903 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438750 M 9 1 0 "" HG00733 nsv2800777 1 14840911 14840911 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13700420 M 2 1 0 "" nsv3534594 1 14840913 14840913 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412732 M 9 1 0 "" HG00514 nsv3540825 1 14840997 14840997 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373151 M 9 1 0 "" NA19240 nsv3925799 1 14840997 14840997 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189599 M 1 1 0 "" HG002 nsv5608911 1 14840997 14840997 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060505 M 35 1 0 "" HG00731 nsv5690920 1 14840997 14840997 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17175507 M 3202 1 0 "" nsv6043915 1 14840997 14840997 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532046 M 405 1 0 "" nsv2800778 1 14840998 14840998 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699453 M 2 1 0 "" nsv3320535 1 14840998 14840998 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484373,nssv14474265,nssv14487749,nssv14485321,nssv14488294,nssv14476081,nssv14489857,nssv14476437,nssv14479938,nssv14485426,nssv14486634,nssv14477812 M 14 12 0 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02059,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3542151 1 14841002 14841002 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438751 M 9 1 0 "" HG00733 esv1086173 1 14841005 14841005 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4139423 M 2 1 0 "" HuRef nsv3056056 1 14841006 14841006 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020156 M 2 1 0 "" NA12878 nsv3538194 1 14841009 14841009 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412733 M 9 1 0 "" HG00514 nsv3320536 1 14841067 14841067 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473143 M 14 1 0 "" HG00268 nsv5728462 1 14849063 14849063 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17247257 M 3202 1 0 "" nsv6317629 1 14850414 14861852 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051736 M 19652 0 1 "" nsv5720614 1 14854986 14854986 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17234237 M 3202 1 0 "" nsv5828305 1 14856026 14865355 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461637 M 914 0 0 "" nsv5877151 1 14856060 14865284 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364720 M 914 0 1 "" nsv4032717 1 14856063 14865285 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846704 M 10847 0 1 "" nsv5828093 1 14861056 14862255 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451703,nssv17460092 M 914 0 0 "" nsv5886736 1 14861104 14861157 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360403 M 914 0 1 "" nsv6539298 1 14868771 14875724 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247027 M 19652 0 0 "" nsv4312612 1 14869740 14870568 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789010 M 10847 0 0 "" nsv4052138 1 14870710 14871591 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846712 M 10847 0 1 "" nsv6328517 1 14870710 14871591 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051740 M 19652 0 1 "" nsv4517033 1 14877225 14877590 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846723 M 10847 0 1 "" nsv4516584 1 14884999 14906000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15846730 M 10847 0 1 "" nsv833314 1 14899155 15068876 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442951 M 95 0 1 KAZN nsv460506 1 14907214 14981920 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537067 M 1557 0 1 KAZN HGDP00554 nsv545588 1 14907214 14981920 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173770 M 17421 0 1 KAZN HGDP00554 nsv3298 1 14912307 14939486 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv7914 M 9 1 0 KAZN NA12156 nsv6317908 1 14927861 14928514 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052140 M 19652 0 1 KAZN nsv6321532 1 14932285 14933179 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052142 M 19652 0 1 KAZN nsv6330125 1 14936782 14937773 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052143 M 19652 0 1 KAZN nsv4034469 1 14937406 14937547 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847292 M 10847 0 1 KAZN nsv5422681 1 14937406 14937547 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897040 M 3202 0 1 KAZN nsv5427739 1 14938651 14938712 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897041 M 3202 0 1 KAZN nsv6334919 1 14940048 14970938 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200821 M 19652 1 0 KAZN nsv473059 1 14947269 14947269 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017325 M 9 1 0 KAZN NA19129 nsv4051227 1 14948767 14949125 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963038 M 10847 1 0 KAZN nsv5828106 1 14950214 14984778 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458017 M 914 0 0 KAZN nsv5884332 1 14950655 14984971 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368799 M 914 0 1 KAZN nsv5828000 1 14952064 14953063 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455286,nssv17468637 M 914 0 0 KAZN nsv6330944 1 14954124 15218219 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200822 M 19652 1 0 KAZN dgv35n100 1 14954288 15224744 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014029,nsv1001102 M 11257 2 0 KAZN nsv470697 1 14960173 15044796 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547709 M 443 1 0 KAZN HGDP00890 nsv6316029 1 14962830 14964804 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052146 M 19652 0 1 KAZN nsv3190045 1 14965873 14966388 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412734 M 9 0 0 KAZN HG00514 nsv6535914 1 14968763 14970552 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247479 M 19652 0 0 KAZN nsv5828001 1 14968899 14970048 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458060 M 914 0 0 KAZN nsv5870690 1 14969055 14969830 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352133 M 914 0 1 KAZN nsv4459251 1 14969337 14969338 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026354 M 10847 1 0 KAZN nsv5828002 1 14971251 14972350 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453882,nssv17460534 M 914 0 0 KAZN nsv6321241 1 14973349 14975752 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052153 M 19652 0 1 KAZN esv2637393 1 14978582 14979561 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5269600 M 1 1 0 KAZN NA18507 nsv4444667 1 14978934 14978934 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761297 M 1 1 0 KAZN nsv3944555 1 14978982 14978982 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15189600 M 1 1 0 KAZN HG002 nsv5621302 1 14978982 14978982 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060720 M 35 1 0 KAZN HG00731 nsv3541394 1 14979002 14979002 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412735,nssv14387205,nssv14438752 M 9 3 0 KAZN HG00514,HG00733,NA19240 nsv5618902 1 14979002 14979002 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060721 M 35 1 0 KAZN HG03732 nsv6054208 1 14979002 14979002 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533902 M 405 1 0 KAZN nsv2800126 1 14979003 14979003 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13710800 M 2 1 0 KAZN nsv3320136 1 14979003 14979003 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489397,nssv14480398,nssv14490794,nssv14490224,nssv14482143,nssv14478925,nssv14480941,nssv14482491,nssv14481576,nssv14485906,nssv14477560,nssv14484245,nssv14474976,nssv14479557 M 14 14 0 KAZN CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv1497348 1 14979008 14979008 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3929982 M 2 1 0 KAZN HuRef nsv5534094 1 14979008 14979053 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897043 M 3202 1 0 KAZN nsv3056057 1 14979009 14979009 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14030822 M 2 1 0 KAZN NA12878 nsv4043770 1 14979011 14979113 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847303 M 10847 0 1 KAZN nsv6319198 1 14981731 15021820 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052154 M 19652 0 1 KAZN nsv6324569 1 14988295 15052290 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052156 M 19652 0 1 KAZN nsv5690655 1 14989126 14989126 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17176249 M 3202 1 0 KAZN nsv5407168 1 14989126 14989177 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897044 M 3202 1 0 KAZN nsv4043256 1 14989798 14989865 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847311 M 10847 0 1 KAZN nsv5871606 1 14995160 14995245 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368528 M 914 0 1 KAZN nsv5981358 1 15008129 15008185 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518232 M 405 0 1 KAZN nsv5679560 1 15008130 15008130 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17178049,nssv17205654 M 3202 2 0 KAZN nsv4459116 1 15018502 15018503 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026382 M 10847 1 0 KAZN nsv4558386 1 15018783 15018784 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027936 M 10847 1 0 KAZN nsv6329492 1 15020006 15026917 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052163 M 19652 0 1 KAZN nsv6317861 1 15020812 15021625 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052164 M 19652 0 1 KAZN nsv5964825 1 15022006 15022006 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357479 M 914 1 0 KAZN nsv476853 1 15027359 15027359 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020114 M 9 1 0 KAZN NA12878 nsv4036831 1 15036606 15036687 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847330 M 10847 0 1 KAZN nsv4033768 1 15051090 15051251 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847341 M 10847 0 1 KAZN dgv17e212 1 15056557 15062194 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577745,esv3577744 M 873 0 10 KAZN 400051MR,400333CC,400524NJ,400782IE,401184MM,401203MP,401235IA,401415CB,401427CB,401981GF nsv6335053 1 15060997 15061796 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052198 M 19652 0 1 KAZN nsv4035121 1 15065041 15070193 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847351 M 10847 0 1 KAZN nsv6316783 1 15066755 15067102 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052207 M 19652 0 1 KAZN nsv4040410 1 15066756 15067102 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847359 M 10847 0 1 KAZN nsv6056102 1 15075930 15075930 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537162 M 405 1 0 KAZN nsv4560390 1 15075930 15075931 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027946 M 10847 1 0 KAZN nsv4755543 1 15075938 15075938 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16272395 M 25 1 0 KAZN nsv5726654 1 15075943 15075943 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17252036 M 3202 1 0 KAZN nsv5554088 1 15075943 15075994 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897053 M 3202 1 0 KAZN nsv6325807 1 15076387 15076888 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052214 M 19652 0 1 KAZN nsv478373 1 15078662 15078662 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018566 M 9 1 0 KAZN NA18507 esv2670554 1 15089657 15091690 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5701194 M 1151 0 1 KAZN NA18536 nsv5432225 1 15089659 15091690 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897064 M 3202 0 1 KAZN esv3585288 1 15089659 15091713 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863411 M 2504 0 1 KAZN NA18536 nsv545589 1 15089767 15162350 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710494 M 17421 0 1 KAZN nsv4567093 1 15091005 15091006 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027955 M 10847 1 0 KAZN nsv4033427 1 15094739 15099525 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847368 M 10847 0 1 KAZN nsv475615 1 15095267 15095267 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013409 M 9 1 0 KAZN NA12878 nsv4459121 1 15104822 15104823 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027964 M 10847 1 0 KAZN nsv1001770 1 15106057 15149171 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481126 M 11257 0 1 KAZN nsv5614779 1 15106836 15106836 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060553 M 35 1 0 KAZN HG01596 esv3585289 1 15107148 15147389 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863412 M 2504 0 1 KAZN HG03372 nsv4038199 1 15107211 15147350 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848550 M 10847 0 1 KAZN nsv5418747 1 15107211 15147350 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897075 M 3202 0 1 KAZN nsv6319977 1 15107211 15147350 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052228 M 19652 0 1 KAZN nsv5720028 1 15108762 15108762 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17244671 M 3202 1 0 KAZN nsv5561930 1 15108762 15108813 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897097 M 3202 1 0 KAZN nsv545590 1 15111927 15162350 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710495 M 17421 0 1 KAZN esv8986 1 15113552 15113751 CNV gain Ahn_et_al_2009 19470904 Sequencing essv31427 M 1 0 0 KAZN esv2744119 1 15120012 15120719 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6692759,essv6832595 M 96 0 2 KAZN SSM037,SSM082 nsv5564750 1 15120144 15120230 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060560 M 35 0 1 KAZN HG02818 nsv5867888 1 15120144 15120230 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363828 M 914 0 1 KAZN nsv3320146 1 15120146 15120232 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484694 M 14 0 1 KAZN HG02818 nsv5981592 1 15120176 15120262 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524123 M 405 0 1 KAZN nsv4049235 1 15121841 15121954 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963039 M 10847 1 0 KAZN nsv1133813 1 15128672 15128733 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969384 M 2 0 1 KAZN KWS2 nsv4459255 1 15139411 15139412 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027973 M 10847 1 0 KAZN esv3577746 1 15148927 15153669 CNV loss Uddin_et_al_2014 25503493 SNP array essv9799199,essv9799310 M 873 0 2 KAZN 400354TJ,400674CA nsv4560777 1 15155130 15155131 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027982 M 10847 1 0 KAZN nsv6316284 1 15155850 15164336 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052883 M 19652 0 1 KAZN esv3585290 1 15161618 15165674 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863413 M 2504 0 1 KAZN HG01779 nsv5414861 1 15161676 15165644 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897104 M 3202 0 1 KAZN nsv6316484 1 15161676 15165644 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052888 M 19652 0 1 KAZN nsv6324793 1 15179049 15181003 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200893 M 19652 1 0 KAZN nsv4047247 1 15180580 15185887 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848575 M 10847 0 1 KAZN nsv5675234 1 15182870 15182870 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17176564,nssv17205655 M 3202 2 0 KAZN nsv5407067 1 15182870 15182921 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897106 M 3202 1 0 KAZN nsv5956306 1 15184709 15184709 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351537 M 914 1 0 KAZN esv3585292 1 15187487 15192877 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863416 M 2504 0 1 KAZN HG01747 nsv5417643 1 15187643 15192951 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897108 M 3202 0 1 KAZN nsv6318462 1 15187643 15192951 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052898 M 19652 0 1 KAZN nsv5608027 1 15188348 15188348 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060761 M 35 1 0 KAZN HG03371 nsv5828224 1 15190782 15192981 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450247 M 914 0 0 KAZN nsv5879686 1 15190835 15192998 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358321 M 914 0 1 KAZN nsv6316351 1 15190837 15192953 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052899 M 19652 0 1 KAZN nsv4049307 1 15190838 15192953 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849011 M 10847 0 1 KAZN nsv5828225 1 15193882 15197481 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463207 M 914 0 0 KAZN nsv5870596 1 15194130 15201382 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366558 M 914 0 1 KAZN esv3670488 1 15194449 15194449 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492643 M 20 1 0 KAZN nsv3561285 1 15194449 15194449 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14337265,nssv14337268,nssv14337267,nssv14337264,nssv14337266 M 9 5 0 KAZN HG00513,HG00732,HG00733,NA19239,NA19240 nsv5619396 1 15194449 15194449 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060762 M 35 1 0 KAZN HG00732 nsv5962977 1 15194449 15194449 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353919 M 914 1 0 KAZN nsv6056028 1 15194449 15194449 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530728 M 405 1 0 KAZN nsv3188159 1 15194449 15194511 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385798,nssv14438753 M 9 0 0 KAZN HG00733,NA19240 nsv3320162 1 15194450 15194450 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484464,nssv14479442,nssv14481347 M 14 3 0 KAZN HG00268,HG04217,HX1 nsv4755303 1 15194457 15194457 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16283429 M 25 1 0 KAZN esv1214811 1 15194463 15194463 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4234331 M 2 1 0 KAZN HuRef nsv5546510 1 15194463 15194500 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895783 M 3202 1 0 KAZN nsv5877570 1 15194463 15194584 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367292 M 914 0 1 KAZN nsv3051612 1 15194464 15194464 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14018958 M 2 1 0 KAZN NA12878 esv3348016 1 15194471 15194471 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8701356 M 185 1 0 KAZN NA12878 dgv8e201 1 15199304 15199935 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2744153,esv2744130 M 96 0 23 KAZN SSM003,SSM012,SSM013,SSM017,SSM023,SSM025,SSM026,SSM028,SSM029,SSM036,SSM039,SSM041,SSM042,SSM047,SSM064,SSM067,SSM068,SSM070,SSM072,SSM079,SSM083,SSM086,SSM087 esv2744142 1 15199394 15199514 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6972340 M 96 0 1 KAZN SSM029 esv2744164 1 15199478 15199633 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6707266 M 96 0 1 KAZN SSM041 nsv2800785 1 15199550 15199605 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13683777 M 2 0 1 KAZN nsv3320587 1 15199550 15199605 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489389,nssv14490190,nssv14479925,nssv14472358,nssv14476638,nssv14482480,nssv14488295,nssv14480942,nssv14476763 M 14 0 9 KAZN CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1,NA12878 dgv115n152 1 15199550 15199611 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282276,nsv3524832 M 9 0 7 KAZN HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19239 nsv5567194 1 15199555 15199610 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060764 M 35 0 1 KAZN HG00731 nsv5870451 1 15199555 15199610 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355718 M 914 0 1 KAZN nsv5981595 1 15199555 15199611 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518016 M 405 0 1 KAZN esv3669962 1 15199555 15199612 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16466188 M 20 0 1 KAZN esv2744175 1 15199575 15199734 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6821180 M 96 0 1 KAZN SSM079 nsv4734249 1 15199609 15199666 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16265783 M 25 0 1 KAZN nsv6044709 1 15203367 15203367 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519692 M 405 1 0 KAZN nsv545591 1 15207011 15456919 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710496 M 17421 0 1 KAZN,TMEM51-AS1 esv2744186 1 15208653 15211219 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6876787 M 96 0 1 KAZN SSM012 nsv5883241 1 15209229 15209313 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360920 M 914 0 1 KAZN nsv4044623 1 15209232 15209314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849022 M 10847 0 1 KAZN nsv5415370 1 15209232 15209314 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895784 M 3202 0 1 KAZN nsv5577433 1 15209792 15209890 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060767 M 35 0 1 KAZN HG03065 nsv4760246 1 15209795 15209795 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284009 M 25 1 0 KAZN nsv3319938 1 15209803 15209803 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472171 M 14 1 0 KAZN HG00268 nsv4534309 1 15209815 15209816 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028000 M 10847 1 0 KAZN nsv4040103 1 15209817 15209903 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849031 M 10847 0 1 KAZN nsv5414545 1 15209817 15209912 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895785 M 3202 0 1 KAZN nsv4532903 1 15209819 15209820 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028011 M 10847 1 0 KAZN nsv5981274 1 15209838 15209925 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535069 M 405 0 1 KAZN nsv6043962 1 15209839 15209839 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532866 M 405 1 0 KAZN nsv5608841 1 15209851 15209851 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060768 M 35 1 0 KAZN HG00732 nsv5687263 1 15209922 15209922 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17177855 M 3202 1 0 KAZN nsv1008761 1 15212891 15276526 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482225 M 11257 1 0 KAZN esv3585293 1 15217207 15220605 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863417 M 2504 0 1 KAZN HG01362 nsv4051679 1 15217308 15220509 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849041 M 10847 0 1 KAZN nsv5431003 1 15217308 15220509 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895791 M 3202 0 1 KAZN nsv6331214 1 15217308 15220509 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052901 M 19652 0 1 KAZN esv3661550 1 15217336 15217336 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484599 M 20 1 0 KAZN nsv6050546 1 15223831 15223831 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530497 M 405 1 0 KAZN nsv4565921 1 15230709 15230710 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028039 M 10847 1 0 KAZN nsv5728245 1 15230731 15230731 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17241926 M 3202 1 0 KAZN nsv5559805 1 15230731 15230782 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895813 M 3202 1 0 KAZN nsv6544359 1 15231414 15232393 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247499 M 19652 0 0 KAZN nsv6318334 1 15242854 15244541 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052910 M 19652 0 1 KAZN nsv4042297 1 15245193 15245415 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849058 M 10847 0 1 KAZN dgv45n106 1 15250300 15251300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1118103,nsv1121753 M 2 0 2 KAZN KWS1,KWS2 nsv1077104 1 15250599 15251300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764318 M 1 0 1 KAZN KWP1 nsv820102 1 15256262 15261328 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419679 M 2 1 0 KAZN AK1 nsv4534144 1 15260063 15260064 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028049 M 10847 1 0 KAZN nsv5680264 1 15260078 15260078 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205656,nssv17178097 M 3202 2 0 KAZN nsv6138873 1 15260078 15260330 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895835 M 3202 0 1 KAZN nsv5870325 1 15260078 15260342 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363515 M 914 0 1 KAZN nsv4034138 1 15265695 15265876 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849076 M 10847 0 1 KAZN nsv4328998 1 15269644 15279562 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789018 M 10847 0 0 KAZN nsv5561380 1 15269644 15279562 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895858 M 3202 0 0 KAZN nsv5970937 1 15270282 15274904 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17361190 M 914 0 0 KAZN nsv6541168 1 15270284 15274905 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247500 M 19652 0 0 KAZN nsv6244392 1 15270699 15270699 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857726 M 1021 1 0 KAZN esv3661612 1 15272850 15272850 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484654 M 20 1 0 KAZN nsv5414947 1 15274496 15279496 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895869 M 3202 0 1 KAZN dgv9e214 1 15274725 15279617 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585294,esv3585295 M 2504 0 9 KAZN HG00190,HG02968,HG03024,HG03577,NA19036,NA19099,NA19375,NA19440,NA20332 esv3585296 1 15274725 15279617 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863437,essv9863435,essv9863436,essv9863434,essv9863433 M 2504 5 0 KAZN HG00105,HG01064,HG03018,NA19379,NA19380 nsv5828342 1 15274825 15279576 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454278 M 914 0 0 KAZN nsv6321408 1 15274897 15278196 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052914 M 19652 0 1 KAZN esv23718 1 15274921 15279573 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11412 M 40 0 1 KAZN NA19099 nsv441681 1 15276484 15279296 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656585,nssv1656587,nssv1656586 M 270 0 3 KAZN NA18913,NA18914,NA19099 nsv4330303 1 15277073 15455481 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789026 M 10847 0 0 KAZN,TMEM51-AS1 nsv3117133 1 15277608 15455135 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nssv14102539 M 467 1 0 KAZN,TMEM51-AS1 sample45 nsv4050109 1 15280084 15281651 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849093 M 10847 0 1 KAZN nsv5424133 1 15280084 15281651 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895870 M 3202 0 1 KAZN nsv6326131 1 15280084 15281651 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052915 M 19652 0 1 KAZN esv2744197 1 15284664 15285374 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6929057,essv6666893,essv6780868,essv6710579 M 96 0 4 KAZN SSM020,SSM030,SSM042,SSM068 esv2744208 1 15284787 15284948 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6710579 M 96 0 1 KAZN SSM042 esv2656721 1 15288308 15288577 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6577580,essv6013489,essv6108403 M 1151 0 3 KAZN HG01101,NA19657,NA19779 nsv4033112 1 15288534 15317402 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963040 M 10847 1 0 KAZN esv2761573 1 15289210 15317230 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv6994411 M 1109 1 0 KAZN SW_0857 nsv5557565 1 15296395 15313921 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895871 M 3202 0 0 KAZN nsv4048226 1 15303894 15306013 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849103 M 10847 0 1 KAZN nsv5415128 1 15308958 15309053 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895872 M 3202 0 1 KAZN nsv6317723 1 15310236 15312296 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052924 M 19652 0 1 KAZN nsv5885234 1 15311592 15311985 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352780 M 914 0 1 KAZN nsv4516997 1 15311610 15312484 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963041 M 10847 1 0 KAZN nsv6053939 1 15311746 15311746 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529816 M 405 1 0 KAZN nsv6333458 1 15311935 15313880 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052925 M 19652 0 1 KAZN nsv4041293 1 15311936 15313886 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847031 M 10847 0 1 KAZN nsv6317252 1 15315797 15318996 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052927 M 19652 0 1 KAZN nsv4518391 1 15315825 15318980 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847039 M 10847 0 1 KAZN nsv6539846 1 15316515 15323346 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247504 M 19652 0 0 KAZN nsv6316558 1 15317748 15318980 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052928 M 19652 0 1 KAZN nsv4044699 1 15317750 15318980 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847049 M 10847 0 1 KAZN esv3585297 1 15325490 15327572 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863456,essv9863461,essv9863455,essv9863462,essv9863457,essv9863464,essv9863454,essv9863463,essv9863458,essv9863460,essv9863466,essv9863465,essv9863438,essv9863459,essv9863451,essv9863453,essv9863439,essv9863448,essv9863444,essv9863440,essv9863446,essv9863441,essv9863443,essv9863447,essv9863445,essv9863449,essv9863442,essv9863450,essv9863452 M 2504 0 29 KAZN HG02307,HG02580,HG02620,HG02702,HG02808,HG02820,HG02836,HG02837,HG02885,HG02891,HG03127,HG03160,HG03394,HG03457,HG03458,HG03476,HG03547,HG03548,HG03556,HG03578,HG03757,NA18874,NA18879,NA19023,NA19096,NA19118,NA19153,NA19190,NA20126 nsv5418773 1 15325651 15327522 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895873 M 3202 0 1 KAZN nsv4043696 1 15325935 15326000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847058 M 10847 0 1 KAZN nsv6322683 1 15326327 15327593 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052935 M 19652 0 1 KAZN esv2676425 1 15326513 15327631 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5959097,essv6543636,essv6064396,essv6286986,essv6113589 M 1151 0 5 KAZN NA18505,NA18874,NA19108,NA19190,NA19313 nsv5828345 1 15326624 15327623 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463451 M 914 0 0 KAZN nsv5869764 1 15326648 15327591 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364945 M 914 0 1 KAZN nsv4050638 1 15326650 15327592 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847068 M 10847 0 1 KAZN nsv5414165 1 15326650 15327592 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895875 M 3202 0 1 KAZN esv3585298 1 15326657 15327606 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863507,essv9863476,essv9863506,essv9863471,essv9863493,essv9863500,essv9863478,essv9863492,essv9863501,essv9863484,essv9863495,essv9863496,essv9863481,essv9863491,essv9863502,essv9863479,essv9863494,essv9863505,essv9863485,essv9863503,essv9863490,essv9863497,essv9863470,essv9863504,essv9863473,essv9863498,essv9863472,essv9863499,essv9863477,essv9863467,essv9863480,essv9863468,essv9863488,essv9863469,essv9863482,essv9863474,essv9863489,essv9863475,essv9863487,essv9863483,essv9863486 M 2504 0 41 KAZN HG02307,HG02427,HG02455,HG02580,HG02620,HG02702,HG02808,HG02820,HG02836,HG02837,HG02879,HG02885,HG02891,HG03046,HG03048,HG03127,HG03160,HG03169,HG03363,HG03385,HG03394,HG03457,HG03458,HG03476,HG03514,HG03547,HG03548,HG03556,HG03578,NA18488,NA18505,NA18874,NA18879,NA19023,NA19096,NA19108,NA19118,NA19153,NA19190,NA20126,NA20340 esv27978 1 15326675 15327295 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13462 M 40 0 1 KAZN NA19190 nsv6315747 1 15331488 15346548 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052937 M 19652 0 1 KAZN nsv5415828 1 15333139 15333204 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895876 M 3202 1 0 KAZN nsv5420012 1 15333933 15334172 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895879 M 3202 0 1 KAZN esv3674177 1 15336907 15337009 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16495963 M 20 0 0 KAZN nsv4458948 1 15338857 15338858 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026892 M 10847 1 0 KAZN nsv5419116 1 15340078 15343564 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895880 M 3202 0 1 KAZN nsv6321876 1 15340078 15343622 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052945 M 19652 0 1 KAZN esv3585299 1 15340081 15343617 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863508,essv9863509,essv9863513,essv9863512,essv9863510,essv9863511 M 2504 0 6 KAZN HG01885,HG03189,HG03241,HG03520,HG03571,NA19913 nsv4039660 1 15340085 15343591 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847078 M 10847 0 1 KAZN nsv520075 1 15341055 15341413 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697211 M 2026 0 1 KAZN nsv527648 1 15341055 15343094 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704119 M 2026 0 1 KAZN nsv517844 1 15341055 15344403 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695248 M 2026 0 1 KAZN nsv521566 1 15343094 15347363 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv698183 M 2026 1 0 KAZN nsv5871187 1 15343922 15344842 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351332 M 914 0 1 KAZN nsv4050252 1 15343922 15344852 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847088 M 10847 0 1 KAZN nsv5428095 1 15343922 15344852 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895881 M 3202 0 1 KAZN nsv5981598 1 15343936 15344852 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526700 M 405 0 1 KAZN esv3585300 1 15343948 15344881 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863514,essv9863515,essv9863516 M 2504 0 3 KAZN HG02116,NA18525,NA18629 nsv545592 1 15344936 15377687 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710497 M 17421 0 1 KAZN nsv6546056 1 15358707 15359452 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247518 M 19652 0 0 KAZN nsv5539962 1 15362725 15362759 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895882 M 3202 1 0 KAZN nsv4764472 1 15362754 15362754 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16262602 M 25 1 0 KAZN nsv3531686 1 15362774 15362774 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389200,nssv14438754 M 9 2 0 KAZN HG00733,NA19240 nsv3942950 1 15362774 15362774 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191252 M 1 1 0 KAZN HG002 nsv4444668 1 15362774 15362774 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15758179 M 1 1 0 KAZN nsv5616137 1 15362774 15362774 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061128 M 35 1 0 KAZN HG00731 nsv5959004 1 15362774 15362774 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351234 M 914 1 0 KAZN nsv2800132 1 15362775 15362775 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679880 M 2 1 0 KAZN nsv3320419 1 15362775 15362775 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478113,nssv14477731,nssv14475783,nssv14484387,nssv14472481,nssv14487427 M 14 6 0 KAZN CHM1,HG00268,HG02106,HG02818,HX1,NA19240 nsv6042701 1 15362782 15362782 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517572 M 405 1 0 KAZN esv22036 1 15364967 15365622 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11732 M 40 0 1 KAZN NA12776 esv2744219 1 15365037 15365734 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6885982,essv6675197,essv6874702,essv6669210,essv6859188,essv6847015,essv6863957,essv6836186,essv6889006,essv6747774,essv6744930,essv6813167,essv6668948,essv6961549,essv6843832,essv6801616,essv6816710,essv6764159,essv6972341,essv6733482,essv6816580,essv6759040,essv6692760,essv6921715,essv6682825,essv6793282 M 96 0 26 KAZN SSM005,SSM010,SSM011,SSM018,SSM027,SSM029,SSM031,SSM032,SSM034,SSM037,SSM049,SSM055,SSM056,SSM061,SSM063,SSM071,SSM073,SSM077,SSM078,SSM083,SSM086,SSM088,SSM089,SSM092,SSM096,SSM097 nsv4046555 1 15365164 15365430 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963042 M 10847 1 0 KAZN esv3671697 1 15365231 15365287 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16466344 M 20 0 1 KAZN nsv2800484 1 15365266 15365375 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13676687 M 2 0 1 KAZN nsv3320614 1 15365266 15365375 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481420,nssv14473975 M 14 0 2 KAZN CHM1,NA19434 nsv4744651 1 15365268 15365378 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16294565 M 25 0 1 KAZN nsv3953787 1 15365283 15365393 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181681 M 1 0 1 KAZN HG002 esv3548788 1 15365283 15365398 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9747535 M 767 0 1 KAZN nsv5981133 1 15365283 15365398 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518931 M 405 0 1 KAZN nsv5868116 1 15365283 15365502 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351317 M 914 0 1 KAZN nsv3061681 1 15365284 15365394 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14023839 M 2 0 1 KAZN CHM1 esv1011013 1 15365289 15365398 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3577254 M 3 0 1 KAZN HuRef esv1748933 1 15365291 15365401 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3823225 M 2 0 1 KAZN HuRef esv2744230 1 15365325 15365563 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6885982,essv6692760,essv6863957,essv6801616,essv6889006,essv6675197,essv6859188,essv6847015,essv6816580,essv6836186,essv6813167,essv6744930,essv6843832,essv6972341,essv6759040,essv6961549,essv6793282,essv6682825,essv6668948 M 96 0 19 KAZN SSM011,SSM027,SSM029,SSM031,SSM032,SSM034,SSM037,SSM055,SSM061,SSM071,SSM073,SSM077,SSM078,SSM083,SSM086,SSM088,SSM089,SSM096,SSM097 esv2678969 1 15365338 15365503 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6008282,essv5676377,essv6121185,essv5653658,essv5638545,essv5714361,essv5633833,essv6229821,essv5589171,essv6069641,essv5562131,essv5397554,essv5723719,essv6406302,essv6255549,essv6166905,essv6462213,essv6266633,essv5737281,essv6570486,essv5943948,essv6417866,essv5776461,essv5753845,essv5554665,essv6220232,essv6565358,essv6263364,essv5713653,essv5676598,essv6410464,essv5667515,essv5443769,essv6041768,essv6323738,essv5452369,essv5687484,essv5825410,essv5512288,essv6556702,essv6569702,essv6300292,essv5895506,essv6127500,essv6189080,essv6199069,essv5828094,essv6534079,essv5717724,essv5915598,essv5760169,essv5872659,essv6053815,essv6160268,essv5604942,essv6484942,essv5996205,essv5808706,essv5572955,essv6267676,essv5540657,essv6185332 M 1151 0 62 KAZN HG00139,HG00154,HG00249,HG00252,HG00260,HG00261,HG00268,HG00276,HG00278,HG00280,HG00284,HG00310,HG00313,HG00315,HG00318,HG00319,HG00323,HG00336,HG00337,HG00353,HG00418,HG00419,HG00428,HG00436,HG00437,HG00442,HG00443,HG00449,HG00473,HG00475,HG00478,HG00479,HG00500,HG00512,HG00513,HG00525,HG00537,HG00557,HG00583,HG00662,HG00663,HG00684,HG00698,HG00699,HG00701,HG00707,HG01070,HG01072,HG01082,HG01334,NA18534,NA18543,NA18546,NA18602,NA18605,NA18606,NA18612,NA18613,NA18623,NA18624,NA18633,NA18636 nsv3320420 1 15365411 15365520 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472140,nssv14480021,nssv14473373,nssv14477695 M 14 0 4 KAZN HG00514,HG02059,HG04217,NA12878 nsv5566775 1 15365423 15365532 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061130 M 35 0 1 KAZN HG00512 nsv3280449 1 15365431 15365541 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14414796 M 9 0 1 KAZN HG00514 esv1186245 1 15365439 15365439 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3944374 M 2 1 0 KAZN HuRef esv3661746 1 15366980 15366980 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484775 M 20 1 0 KAZN nsv5427963 1 15371723 15372528 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895883 M 3202 0 1 KAZN nsv5429607 1 15372541 15373982 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895884 M 3202 0 1 KAZN esv2744241 1 15374794 15375510 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6824979,essv6789147,essv6941780,essv6913999,essv6759041,essv6769512 M 96 0 6 KAZN SSM016,SSM023,SSM061,SSM065,SSM070,SSM080 esv2313486 1 15375023 15375435 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4985131 M 1 0 1 KAZN NA18507 nsv4747679 1 15375050 15375299 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278181 M 25 0 1 KAZN nsv5887100 1 15375066 15375317 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359122 M 914 0 1 KAZN nsv5981134 1 15375072 15375319 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531902 M 405 0 1 KAZN esv3672941 1 15375095 15375222 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16466456 M 20 0 1 KAZN esv2744253 1 15375103 15375304 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6789147,essv6941780,essv6913999,essv6769512 M 96 0 4 KAZN SSM016,SSM023,SSM065,SSM070 nsv5569821 1 15375153 15375236 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061133 M 35 0 1 KAZN NA19239 nsv5869013 1 15375153 15375250 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361844 M 914 0 1 KAZN nsv5981603 1 15375222 15375289 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524932 M 405 0 1 KAZN esv2744264 1 15375271 15375421 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6824979 M 96 0 1 KAZN SSM080 nsv4044654 1 15375792 15376589 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847099 M 10847 0 1 KAZN esv2744275 1 15376047 15376960 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6666894 M 96 0 1 KAZN SSM030 esv3661832 1 15376469 15376469 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484852 M 20 1 0 KAZN nsv4732305 1 15376512 15376569 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16282796 M 25 0 1 KAZN nsv3280720 1 15376515 15376576 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392094 M 9 0 1 KAZN NA19240 nsv3320615 1 15376516 15376575 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486378,nssv14474222,nssv14487032 M 14 0 3 KAZN HX1,NA19240,NA19434 nsv5981281 1 15376524 15376580 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534893 M 405 0 1 KAZN nsv5575667 1 15376524 15376588 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061134 M 35 0 1 KAZN HG00732 nsv1077107 1 15376528 15376612 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771645 M 1 0 1 KAZN KWP1 nsv1137732 1 15376529 15376612 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990239 M 2 0 1 KAZN KWS2 nsv4032973 1 15387976 15388090 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963787 M 10847 1 0 KAZN esv2744286 1 15389970 15390567 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6666895,essv6941781,essv6769513 M 96 0 3 KAZN SSM023,SSM030,SSM065 nsv5565031 1 15390265 15390319 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061142 M 35 0 1 KAZN NA19238 nsv3208665 1 15390265 15390320 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14340119 M 9 0 1 KAZN NA19238 nsv3320425 1 15390266 15390320 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484374 M 14 0 1 KAZN NA19434 nsv3173275 1 15390266 15390321 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382389 M 9 0 0 KAZN NA19240 nsv5874882 1 15390333 15390387 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365720 M 914 0 1 KAZN nsv5981435 1 15390335 15390393 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536661 M 405 0 1 KAZN nsv4739944 1 15390343 15390398 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260120 M 25 0 1 KAZN nsv4047899 1 15394000 15599000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963788 M 10847 1 0 C1orf195,FHAD1,KAZN,TMEM51,TMEM51-AS1 esv3661873 1 15395527 15395527 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484890 M 20 1 0 KAZN nsv4050663 1 15395665 15395788 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848034 M 10847 0 1 KAZN nsv4047900 1 15396954 15398243 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848042 M 10847 0 1 KAZN nsv5828131 1 15397342 15412443 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458503 M 914 0 0 KAZN esv3585301 1 15397849 15412264 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863517 M 2504 1 0 KAZN HG00732 nsv5882885 1 15397925 15412640 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17365348 M 914 1 0 KAZN nsv6321343 1 15397925 15412641 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201524 M 19652 1 0 KAZN nsv4034509 1 15397925 15412658 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963789 M 10847 1 0 KAZN nsv5427124 1 15397925 15412658 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895899 M 3202 1 0 KAZN nsv3192181 1 15397926 15412647 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14339866 M 9 1 0 KAZN HG00732 nsv5611465 1 15397942 15397942 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061143 M 35 1 0 KAZN HG00732 nsv4047787 1 15398474 15398918 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848052 M 10847 0 1 KAZN nsv3212477 1 15402248 15403764 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14273675 M 9 1 0 KAZN HG00732 nsv6333445 1 15408374 15409560 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052993 M 19652 0 1 KAZN nsv4032660 1 15409037 15467154 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848058 M 10847 0 1 KAZN,TMEM51-AS1 nsv833425 1 15409826 15618224 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1442963 M 95 1 0 C1orf195,FHAD1,KAZN,TMEM51,TMEM51-AS1 nsv5828018 1 15411094 15413105 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459538 M 914 0 0 KAZN nsv5415681 1 15411968 15417927 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895910 M 3202 0 1 KAZN nsv6550587 1 15418650 15654468 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248126 M 19652 0 0 C1orf195,FHAD1,KAZN,TMEM51,TMEM51-AS1 nsv508913 1 15418886 15491957 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619772 M 4 1 0 C1orf195,KAZN,TMEM51,TMEM51-AS1 NA10860 nsv6335471 1 15419439 15427109 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053002 M 19652 0 1 KAZN nsv5957358 1 15427660 15427660 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361856 M 914 1 0 KAZN nsv5615197 1 15430015 15430015 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060783 M 35 1 0 KAZN HG03371 nsv4517961 1 15430018 15430075 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963790 M 10847 1 0 KAZN nsv1075209 1 15436609 15436680 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765033 M 1 0 1 KAZN KWP1 esv2618588 1 15436764 15436830 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5193142 M 1 0 1 KAZN NA18507 nsv4459265 1 15446553 15446554 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026912 M 10847 1 0 TMEM51-AS1 nsv6330591 1 15454671 15455948 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051320 M 19652 0 1 TMEM51-AS1 esv22618 1 15456143 15461008 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15067 M 40 0 1 TMEM51-AS1 NA18502 nsv4535535 1 15457498 15457499 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026921 M 10847 1 0 TMEM51-AS1 nsv5543606 1 15457538 15457541 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895953 M 3202 1 0 TMEM51-AS1 nsv5682585 1 15466150 15466150 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205657 M 3202 1 0 TMEM51-AS1 nsv6244404 1 15466173 15466173 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858416 M 1021 1 0 TMEM51-AS1 nsv5880378 1 15470463 15470878 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351166 M 914 0 1 TMEM51-AS1 nsv6331599 1 15472113 15480871 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200420 M 19652 1 0 TMEM51,TMEM51-AS1 nsv4044932 1 15486159 15494364 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963791 M 10847 1 0 C1orf195,TMEM51 nsv6324533 1 15486159 15494364 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200423 M 19652 1 0 C1orf195,TMEM51 nsv1156216 1 15486454 15493910 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4019126 M 131 0 1 C1orf195,TMEM51 nsv6334348 1 15486497 15491596 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051342 M 19652 0 1 C1orf195,TMEM51 dgv26n209 1 15486901 15491534 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5887500,nsv5875535 M 914 0 2 C1orf195,TMEM51 esv2664046 1 15486934 15491463 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6539898,essv5998459,essv5618394,essv5981893,essv6211506,essv6165781 M 1151 0 6 C1orf195,TMEM51 HG01108,HG01198,NA19102,NA19373,NA19466,NA20282 nsv5420930 1 15486947 15491463 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895974 M 3202 0 1 C1orf195,TMEM51 esv3585302 1 15486947 15491483 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863534,essv9863520,essv9863533,essv9863518,essv9863536,essv9863519,essv9863535,essv9863538,essv9863531,essv9863539,essv9863529,essv9863541,essv9863528,essv9863540,essv9863526,essv9863537,essv9863527,essv9863521,essv9863530,essv9863523,essv9863525,essv9863522,essv9863532,essv9863524 M 2504 0 24 C1orf195,TMEM51 HG01108,HG01198,HG01363,HG02006,HG02309,HG02420,HG02461,HG02537,HG02574,HG03077,HG03081,HG03088,HG03202,HG03479,HG03515,NA19019,NA19095,NA19102,NA19206,NA19466,NA19467,NA19475,NA19658,NA20282 dgv27n166 1 15486979 15492000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4041785,nsv4034658 M 10847 0 2 C1orf195,TMEM51 nsv5828352 1 15487076 15491443 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457825 M 914 0 0 C1orf195,TMEM51 nsv437203 1 15487444 15490324 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467084 M 60 0 1 TMEM51 NA19103 esv2764256 1 15489185 15490286 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005020,essv7005017,essv7005019,essv7005018,essv7005016 M 1109 0 5 TMEM51 RW_0012,RW_0222,RW_0231,RW_0281,RW_0601 nsv441682 1 15489185 15490286 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656588,nssv1656591,nssv1656589,nssv1656590 M 270 0 4 TMEM51 NA19102,NA19103,NA19206,NA19208 nsv6315672 1 15489401 15492406 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051344 M 19652 0 1 C1orf195,TMEM51 nsv519926 1 15489817 15489884 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv689561,nssv690383,nssv659518,nssv687857 M 2026 0 4 TMEM51 nsv3520341 1 15490119 15490119 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412736 M 9 1 0 TMEM51 HG00514 nsv5398742 1 15490119 15490119 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895975 M 3202 1 0 TMEM51 nsv5621434 1 15490119 15490119 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060796 M 35 1 0 TMEM51 HG00512 nsv5964488 1 15490119 15490119 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363153 M 914 1 0 TMEM51 nsv4535251 1 15490119 15490120 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028057 M 10847 1 0 TMEM51 nsv3319968 1 15490120 15490120 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14472851 M 14 1 0 TMEM51 HX1 nsv4766233 1 15490125 15490125 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284438 M 25 1 0 TMEM51 nsv6050076 1 15490129 15490129 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521737 M 405 1 0 TMEM51 nsv3561566 1 15490134 15490134 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14341488,nssv14341489 M 9 2 0 TMEM51 HG00512,HG00514 nsv5688432 1 15490134 15490134 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17176430,nssv17205658 M 3202 2 0 TMEM51 nsv6256169 1 15490134 15490134 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858459 M 1021 1 0 TMEM51 nsv6327701 1 15490606 15491577 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051345 M 19652 0 1 C1orf195,TMEM51 nsv4040811 1 15490652 15495340 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847374 M 10847 0 1 C1orf195,TMEM51 nsv5964349 1 15496640 15496640 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353064 M 914 1 0 C1orf195,TMEM51 nsv4535521 1 15496640 15496641 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028065 M 10847 1 0 C1orf195,TMEM51 nsv5679959 1 15496656 15496656 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17176663,nssv17205659 M 3202 2 0 C1orf195,TMEM51 nsv6256206 1 15496656 15496656 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858469 M 1021 1 0 C1orf195,TMEM51 nsv5404340 1 15496656 15496707 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895978 M 3202 1 0 C1orf195,TMEM51 nsv6322108 1 15500034 15502545 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051347 M 19652 0 1 TMEM51 nsv159446 1 15500879 15510662 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178024 M 24 TMEM51 nsv5683047 1 15506732 15506732 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205660,nssv17177941 M 3202 2 0 TMEM51 nsv4458956 1 15506732 15506733 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028633 M 10847 1 0 TMEM51 nsv5407332 1 15506732 15506783 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895981 M 3202 1 0 TMEM51 nsv4534481 1 15509247 15509248 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026954 M 10847 1 0 TMEM51 nsv5886262 1 15509736 15511123 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350417 M 914 0 1 TMEM51 nsv4042032 1 15509736 15511124 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847384 M 10847 0 1 TMEM51 nsv5828353 1 15509752 15511095 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452027 M 914 0 0 TMEM51 nsv5881621 1 15512480 15512542 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357607 M 914 0 1 TMEM51 esv3585305 1 15513936 15520369 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863590 M 2504 0 1 TMEM51 HG04219 nsv5426254 1 15513993 15520417 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16895982 M 3202 0 1 TMEM51 nsv5828234 1 15515126 15550417 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455267 M 914 0 0 TMEM51 nsv4042108 1 15515428 15550711 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963792 M 10847 1 0 TMEM51 nsv5880428 1 15515484 15550708 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17367305 M 914 1 0 TMEM51 nsv6329362 1 15515484 15550709 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200428 M 19652 1 0 TMEM51 nsv6319549 1 15515797 15518996 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051355 M 19652 0 1 TMEM51 nsv4042080 1 15515837 15519169 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847392 M 10847 0 1 TMEM51 nsv4032945 1 15516013 15528468 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963793 M 10847 1 0 TMEM51 nsv1005708 1 15516299 15550525 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473940 M 11257 1 0 TMEM51 nsv5828235 1 15517630 15525197 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458812,nssv17457288 M 914 0 0 TMEM51 nsv5883799 1 15517853 15525053 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353957 M 914 0 1 TMEM51 nsv460550 1 15518792 15550525 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537098 M 1557 1 0 TMEM51 HGDP00863 nsv545593 1 15518792 15550525 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173771 M 17421 1 0 TMEM51 HGDP00863 nsv5964404 1 15518945 15518945 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17355317 M 914 1 0 TMEM51 nsv6324956 1 15529561 15531128 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052312 M 19652 0 1 TMEM51 esv2750811 1 15530260 15550525 CNV gain Pinto_et_al_2007 17911159 SNP array essv6981605,essv6985613,essv6981606 M 771 3 0 TMEM51 BEC_304 nsv1012018 1 15539259 15553764 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472900 M 11257 1 0 TMEM51 nsv6317065 1 15539429 15542756 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052318 M 19652 0 1 TMEM51 esv2621292 1 15550989 15551990 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5251821 M 1 1 0 "" NA18507 nsv4766409 1 15551676 15551676 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295905 M 25 1 0 "" nsv4444669 1 15551697 15551697 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759037 M 1 1 0 "" nsv6055379 1 15551702 15551702 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530365 M 405 1 0 "" nsv3542698 1 15551714 15551714 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438755,nssv14412737,nssv14389598 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3949465 1 15551714 15551714 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191253 M 1 1 0 "" HG002 nsv5607194 1 15551714 15551714 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060637 M 35 1 0 "" HG00731 nsv2800793 1 15551715 15551715 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677044,nssv13678350 M 2 2 0 "" nsv3320201 1 15551715 15551715 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490866,nssv14472920,nssv14483277,nssv14483951,nssv14489739,nssv14491098,nssv14479082,nssv14481586,nssv14478174,nssv14473399,nssv14473427,nssv14476621,nssv14476476 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3051617 1 15551722 15551722 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025483 M 2 1 0 "" NA12878 nsv4036393 1 15557211 15557277 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847410 M 10847 0 1 "" esv2423211 1 15557232 15559147 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5345612 M 1 0 1 "" NA18507 nsv5419254 1 15557570 15558556 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896006 M 3202 0 1 "" nsv6330262 1 15557628 15558557 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052336 M 19652 0 1 "" nsv5878595 1 15557812 15558555 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354169 M 914 0 1 "" esv2672360 1 15557812 15558556 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6551358,essv6554736,essv5828760,essv6467816,essv6179960,essv5817642,essv6019157,essv5590991,essv5545255,essv5755585 M 1151 0 10 "" NA19130,NA19383,NA19399,NA19428,NA19435,NA19444,NA19453,NA19701,NA19834,NA20291 esv3585306 1 15557847 15558602 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863608,essv9863623,essv9863601,essv9863591,essv9863634,essv9863622,essv9863632,essv9863604,essv9863638,essv9863613,essv9863633,essv9863618,essv9863639,essv9863605,essv9863636,essv9863619,essv9863635,essv9863607,essv9863637,essv9863620,essv9863626,essv9863621,essv9863627,essv9863610,essv9863629,essv9863611,essv9863630,essv9863602,essv9863625,essv9863617,essv9863631,essv9863606,essv9863628,essv9863603,essv9863624,essv9863616,essv9863594,essv9863614,essv9863596,essv9863615,essv9863595,essv9863612,essv9863600,essv9863609,essv9863597,essv9863592,essv9863593,essv9863599,essv9863598 M 2504 0 49 "" HG01063,HG01915,HG01948,HG02107,HG02307,HG02308,HG02339,HG02455,HG02464,HG02476,HG02501,HG02511,HG02537,HG02573,HG02675,HG02768,HG02798,HG02836,HG02852,HG02855,HG02881,HG02888,HG03069,HG03073,HG03091,HG03127,HG03241,HG03247,HG03291,HG03298,HG03382,HG03472,HG03514,NA18507,NA18870,NA19023,NA19121,NA19130,NA19146,NA19210,NA19214,NA19383,NA19399,NA19428,NA19435,NA19701,NA19834,NA20291,NA20339 nsv4040669 1 15563577 15579574 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963794 M 10847 1 0 FHAD1 nsv4036394 1 15567431 15568702 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963795 M 10847 1 0 "" nsv4045806 1 15569398 15570689 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847428 M 10847 0 1 "" esv3585307 1 15569645 15571244 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863640 M 2504 0 1 "" HG01860 nsv4034542 1 15569649 15571251 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847438 M 10847 0 1 "" nsv5420870 1 15569649 15571251 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897345 M 3202 0 1 "" esv28285 1 15576232 15578112 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv15216 M 40 0 1 FHAD1 NA12749 nsv4035652 1 15577688 15581994 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847447 M 10847 0 1 FHAD1 nsv4049877 1 15577688 15586317 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847456 M 10847 0 1 FHAD1 nsv5882474 1 15579019 15579087 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366616 M 914 0 1 FHAD1 esv27394 1 15581325 15582378 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14001 M 40 1 0 FHAD1 NA18861 nsv517234 1 15585613 15593666 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv654089,nssv678288,nssv691051,nssv669267 M 2026 4 0 FHAD1 nsv5680693 1 15590031 15590031 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205661 M 3202 1 0 FHAD1 nsv6256217 1 15590031 15590031 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858488 M 1021 1 0 FHAD1 nsv4050146 1 15590229 15601746 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963796 M 10847 1 0 FHAD1 esv3661924 1 15596640 15596640 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16484935 M 20 1 0 FHAD1 esv2744297 1 15597454 15597744 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6937676 M 96 0 1 FHAD1 SSM022 nsv3194642 1 15597637 15598103 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14340280 M 9 0 1 FHAD1 HG00512 nsv6333472 1 15598816 15603106 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052374 M 19652 0 1 FHAD1 nsv5417818 1 15599127 15606186 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897346 M 3202 0 1 FHAD1 esv3585308 1 15599128 15606167 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863642,essv9863641 M 2504 0 2 FHAD1 HG00272,NA19378 esv2762133 1 15599807 15602036 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005021 M 1109 0 1 FHAD1 RW_0544 nsv472480 1 15602554 15602554 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014170 M 9 1 0 FHAD1 NA18555 nsv4045472 1 15605244 15617814 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847467 M 10847 0 1 FHAD1 nsv6256228 1 15606940 15606940 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858540 M 1021 1 0 FHAD1 nsv4041193 1 15617430 15618997 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847845 M 10847 0 1 FHAD1 nsv5414340 1 15617732 15618747 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897347 M 3202 0 1 FHAD1 nsv6325363 1 15621119 15627472 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052385 M 19652 0 1 FHAD1 nsv5726365 1 15623411 15623411 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17240813 M 3202 1 0 FHAD1 nsv4537579 1 15627577 15627578 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026964 M 10847 1 0 FHAD1 nsv5604646 1 15627631 15627631 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061698 M 35 1 0 FHAD1 HG02587 nsv5540779 1 15627638 15627674 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897350 M 3202 1 0 FHAD1 nsv5419505 1 15627815 15629265 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897351 M 3202 0 1 FHAD1 nsv6320377 1 15636861 15665981 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052397 M 19652 0 1 FHAD1 nsv4037054 1 15637678 15639370 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847852 M 10847 0 1 FHAD1 nsv6319630 1 15637678 15639370 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052400 M 19652 0 1 FHAD1 nsv4035992 1 15638160 15692606 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848100 M 10847 0 1 FHAD1 esv2508152 1 15640659 15641550 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5282605 M 1 1 0 FHAD1 NA18507 nsv4444670 1 15641098 15641098 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761830 M 1 1 0 FHAD1 nsv4758836 1 15641113 15641113 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16296750 M 25 1 0 FHAD1 nsv3538059 1 15641131 15641131 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14372791 M 9 1 0 FHAD1 NA19240 nsv3927474 1 15641131 15641131 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191254 M 1 1 0 FHAD1 HG002 esv3670609 1 15641142 15641142 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492752 M 20 1 0 FHAD1 nsv3538051 1 15641142 15641142 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412738,nssv14438756 M 9 2 0 FHAD1 HG00514,HG00733 nsv5618699 1 15641142 15641142 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061151 M 35 1 0 FHAD1 HG00731 nsv5961809 1 15641142 15641142 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354420 M 914 1 0 FHAD1 nsv6053527 1 15641142 15641142 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532750 M 405 1 0 FHAD1 nsv2800876 1 15641143 15641143 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699830 M 2 1 0 FHAD1 nsv3060757 1 15641143 15641143 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14018340 M 2 1 0 FHAD1 CHM1 nsv3320204 1 15641143 15641143 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485869,nssv14478200,nssv14487191,nssv14487038,nssv14490110,nssv14476469,nssv14476752,nssv14472442,nssv14490381,nssv14483817,nssv14472302,nssv14489244,nssv14472828,nssv14484292 M 14 14 0 FHAD1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv5540674 1 15641143 15641171 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897352 M 3202 1 0 FHAD1 nsv3053481 1 15641144 15641144 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14027428 M 2 1 0 FHAD1 NA12878 nsv3539810 1 15641156 15641156 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438757,nssv14412739 M 9 2 0 FHAD1 HG00514,HG00733 nsv3561567 1 15641157 15641157 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14340421,nssv14340422,nssv14340420,nssv14340424,nssv14340423 M 9 5 0 FHAD1 HG00512,HG00513,HG00514,HG00732,HG00733 esv3674237 1 15641172 15641271 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496017 M 20 0 0 FHAD1 nsv3319981 1 15641262 15641262 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491489 M 14 1 0 FHAD1 HG02106 nsv6317705 1 15642103 15646497 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052406 M 19652 0 1 FHAD1 nsv6322767 1 15644265 15649610 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051962 M 19652 0 1 FHAD1 nsv5674342 1 15645377 15645377 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17177407 M 3202 1 0 FHAD1 nsv4517332 1 15645550 15645603 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848110 M 10847 0 1 FHAD1 nsv833536 1 15650001 15855325 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442974,nssv1442985 M 95 0 2 CASP9,CELA2A,CELA2B,CTRC,DNAJC16,EFHD2,FHAD1 nsv6319952 1 15654447 15666736 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051971 M 19652 0 1 FHAD1 nsv6322860 1 15654503 15680199 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051972 M 19652 0 1 FHAD1 nsv1007255 1 15657142 15678841 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475158 M 11257 0 1 FHAD1 esv2671419 1 15657366 15659494 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6070034 M 1151 0 1 FHAD1 NA19703 esv3585309 1 15657384 15659461 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863643 M 2504 0 1 FHAD1 NA19703 nsv4050640 1 15657525 15659578 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848121 M 10847 0 1 FHAD1 nsv5421225 1 15657525 15659578 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897354 M 3202 0 1 FHAD1 nsv6322093 1 15657525 15659578 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051974 M 19652 0 1 FHAD1 nsv6328408 1 15683961 15686203 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051985 M 19652 0 1 FHAD1 nsv6331787 1 15683963 15690950 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18051986 M 19652 0 1 FHAD1 nsv4042003 1 15683974 15690903 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848130 M 10847 0 1 FHAD1 nsv5417732 1 15685439 15769006 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897355 M 3202 1 0 CTRC,EFHD2,FHAD1 nsv5871882 1 15686328 15686490 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365367 M 914 0 1 FHAD1 nsv4034909 1 15686336 15686482 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847861 M 10847 0 1 FHAD1 nsv460561 1 15687059 15750217 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537108 M 1557 0 1 EFHD2,FHAD1 NINDS_60 nsv545594 1 15687059 15750217 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173772 M 17421 0 1 EFHD2,FHAD1 NINDS_60 nsv4459143 1 15687606 15687607 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026981 M 10847 1 0 FHAD1 esv3662149 1 15688498 15688498 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485138 M 20 1 0 FHAD1 nsv4049191 1 15698137 15698209 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847871 M 10847 0 1 FHAD1 nsv5426228 1 15698137 15698209 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897356 M 3202 0 1 FHAD1 nsv5546072 1 15699852 15699852 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897357 M 3202 1 0 FHAD1 nsv5616296 1 15699852 15699852 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061174 M 35 1 0 FHAD1 HG03371 nsv4534069 1 15699852 15699853 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026992 M 10847 1 0 FHAD1 nsv475629 1 15705796 15705796 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016316 M 9 1 0 FHAD1 NA12878 nsv3223712 1 15706102 15712381 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14273692 M 9 1 0 FHAD1 HG00732 nsv478487 1 15711298 15711298 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014816 M 9 1 0 FHAD1 NA18507 nsv4765107 1 15714751 15714751 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16262727 M 25 1 0 FHAD1 nsv3538055 1 15714831 15714831 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438759,nssv14412740 M 9 2 0 FHAD1 HG00514,HG00733 nsv3925431 1 15714831 15714831 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191255 M 1 1 0 FHAD1 HG002 nsv4444671 1 15714831 15714831 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15764677 M 1 1 0 FHAD1 nsv5617934 1 15714831 15714831 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061177,nssv17061176 M 35 2 0 FHAD1 HG00731,HG03065 nsv5961067 1 15714831 15714831 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363833 M 914 1 0 FHAD1 nsv6053322 1 15714831 15714831 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533841 M 405 1 0 FHAD1 nsv2800879 1 15714832 15714832 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13703411 M 2 1 0 FHAD1 nsv3051618 1 15714832 15714832 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017512 M 2 1 0 FHAD1 NA12878 nsv3320447 1 15714832 15714832 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484712,nssv14488487,nssv14482702,nssv14483445,nssv14479259,nssv14483043,nssv14476881,nssv14472716,nssv14476564,nssv14472315,nssv14473804,nssv14479767,nssv14483028,nssv14474791 M 14 14 0 FHAD1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3539489 1 15714832 15714832 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373473 M 9 1 0 FHAD1 NA19240 nsv3535592 1 15714841 15714841 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382145 M 9 1 0 FHAD1 NA19240 nsv3939179 1 15714841 15714841 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191256 M 1 1 0 FHAD1 HG002 nsv5547448 1 15714855 15714882 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897373 M 3202 1 0 FHAD1 nsv5949863 1 15715943 15715943 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17359003 M 914 1 0 FHAD1 nsv6324650 1 15718778 15723612 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052004 M 19652 0 1 FHAD1 nsv6329176 1 15720750 15721476 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052005 M 19652 0 1 FHAD1 nsv4038009 1 15720756 15721476 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847882 M 10847 0 1 FHAD1 esv3585310 1 15724685 15754306 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863644 M 2504 1 0 EFHD2 HG00590 nsv6325949 1 15737503 15738008 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052011 M 19652 0 1 EFHD2 nsv5881970 1 15743140 15743252 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350086 M 914 0 1 EFHD2 nsv4049217 1 15743141 15743253 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847891 M 10847 0 1 EFHD2 nsv5426977 1 15743141 15743253 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897394 M 3202 0 1 EFHD2 nsv5874553 1 15744774 15745088 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351746 M 914 0 1 EFHD2 nsv5416862 1 15747228 15748801 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897405 M 3202 0 1 EFHD2 nsv4038752 1 15747303 15747385 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847908 M 10847 0 1 EFHD2 nsv4035977 1 15748018 15748076 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847917 M 10847 0 1 EFHD2 nsv4040111 1 15749000 15761000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963797 M 10847 1 0 EFHD2 nsv4046263 1 15755444 15755645 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847928 M 10847 0 1 EFHD2 nsv4042773 1 15756788 15756885 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847939 M 10847 0 1 EFHD2 nsv5981527 1 15759910 15812960 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17519015 M 405 1 0 CELA2A,CELA2B,CTRC nsv5879932 1 15762892 15763120 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351289 M 914 0 1 "" esv3674264 1 15764324 15764338 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496041 M 20 0 0 "" esv2117572 1 15772321 15772653 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4687770 M 1 0 1 CTRC NA18507 nsv5416270 1 15774665 15781736 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897416 M 3202 0 1 "" esv3585311 1 15774665 15781763 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863645 M 2504 0 1 "" HG01134 esv2667593 1 15774731 15781767 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6506394 M 1151 0 1 "" HG01134 nsv6326013 1 15779840 15780535 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052032 M 19652 0 1 "" esv3548899 1 15781001 15802468 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9747646 M 767 0 1 CELA2A esv2744308 1 15781951 15802404 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6863958,essv6675199,essv6868711,essv6692761,essv6780869,essv6824980,essv6843843,essv6797448,essv6902529,essv6921716,essv6750595 M 96 0 11 CELA2A SSM011,SSM013,SSM018,SSM032,SSM037,SSM057,SSM068,SSM072,SSM080,SSM089,SSM090 nsv6332470 1 15782049 15801460 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052034 M 19652 0 1 CELA2A nsv1114929 1 15782351 15801688 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975224 M 2 0 1 CELA2A KWS1 nsv5419722 1 15782400 15801744 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897427 M 3202 0 1 CELA2A nsv4042526 1 15782500 15801000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847946 M 10847 0 1 CELA2A esv2761582 1 15783771 15801495 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv6994522 M 1109 0 1 CELA2A SW_1130 nsv5887218 1 15785502 15785560 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352794 M 914 0 1 CELA2A nsv6046883 1 15789731 15789731 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536852 M 405 1 0 CELA2A nsv1161190 1 15789733 15811346 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4029629 M 369 1 0 CELA2A,CELA2B nsv945786 1 15789932 15793276 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755509,nssv1755490,nssv1754063,nssv1755498,nssv1754077,nssv1755522,nssv1754083,nssv1755493,nssv1754088,nssv1754098,nssv1754071,nssv1755487,nssv1754093,nssv1754106,nssv1754072,nssv1755517,nssv1755513,nssv1755505,nssv1754084,nssv1755494,nssv1754060,nssv1754094,nssv1754061,nssv1755500,nssv1754085,nssv1754100,nssv1755510,nssv1754103,nssv1754068,nssv1755496,nssv1754064,nssv1755504,nssv1754081,nssv1755495,nssv1754087,nssv1754096,nssv1754080,nssv1755486,nssv1755511,nssv1754107,nssv1754075,nssv1754097,nssv1754086,nssv1755481,nssv1755507,nssv1755524,nssv1755508,nssv1754105,nssv1754056,nssv1755521,nssv1754069,nssv1755485,nssv1754062,nssv1754099,nssv1754074,nssv1755501,nssv1754092,nssv1755518,nssv1754082,nssv1754095,nssv1754067,nssv1755520,nssv1755515,nssv1754102,nssv1754089,nssv1755483,nssv1754076,nssv1755502,nssv1754091,nssv1755491,nssv1755506,nssv1755488,nssv1754078,nssv1755497,nssv1754070,nssv1755523,nssv1755512,nssv1754104,nssv1754073,nssv1755492,nssv1754090,nssv1755516,nssv1754079,nssv1755525,nssv1754059,nssv1755489,nssv1754058,nssv1755484,nssv1754066,nssv1754101,nssv1755514,nssv1755499,nssv1754057,nssv1755482,nssv1754065,nssv1755503,nssv1755519 M 97 10 0 CELA2A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4038995 1 15789956 15809840 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847956 M 10847 0 1 CELA2A,CELA2B esv3676141 1 15791715 15791770 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16466744 M 20 0 1 CELA2A nsv441683 1 15792424 15811221 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656594,nssv1656593,nssv1656595,nssv1656592 M 270 0 4 CELA2A,CELA2B NA12865,NA12875,NA18959,NA18981 nsv5427815 1 15793551 15813443 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897438 M 3202 0 1 CELA2A,CELA2B nsv6335385 1 15794823 15814308 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052038 M 19652 0 1 CELA2A,CELA2B esv3585312 1 15794893 15814475 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863646 M 2504 0 1 CELA2A,CELA2B NA18981 esv2744319 1 15794969 15814637 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880418,essv6807374,essv6748342,essv6707267,essv6742138,essv6910041 M 96 0 6 CELA2A,CELA2B SSM008,SSM015,SSM041,SSM053,SSM075,SSM094 nsv818056 1 15796808 15808872 CNV loss Wang_et_al_2007 17921354 SNP array nssv1415732,nssv1415731 M 112 0 2 CELA2A,CELA2B NA12865,NA12875 nsv5870598 1 15802707 15802786 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350918 M 914 0 1 CELA2B nsv4036007 1 15802708 15802787 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847966 M 10847 0 1 CELA2B nsv6542789 1 15804959 15805770 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247099 M 19652 0 0 CELA2B nsv4458968 1 15814189 15814190 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027011 M 10847 1 0 CELA2B nsv5686267 1 15814202 15814202 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17178257 M 3202 1 0 CELA2B nsv5409420 1 15814202 15814253 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897445 M 3202 1 0 CELA2B nsv6044045 1 15814990 15814990 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525026 M 405 1 0 CELA2B nsv6334055 1 15818872 15823006 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052050 M 19652 0 1 CASP9 esv3662343 1 15824889 15824889 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485311 M 20 1 0 CASP9 nsv6323282 1 15833685 15840861 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052055 M 19652 0 1 CASP9 nsv4047032 1 15833688 15840861 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847976 M 10847 0 1 CASP9 nsv6545419 1 15836138 15836443 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247102 M 19652 0 0 CASP9 nsv5981461 1 15836528 15836596 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519838 M 405 0 1 CASP9 nsv4518286 1 15842324 15842768 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847986 M 10847 0 1 CASP9 nsv5433158 1 15842338 15842768 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897447 M 3202 0 1 CASP9 nsv6318028 1 15842344 15842816 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052063 M 19652 0 1 CASP9 nsv4036411 1 15843330 15848838 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15847995 M 10847 0 1 CASP9 nsv6323088 1 15847466 15849932 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052064 M 19652 0 1 CASP9 nsv4043174 1 15847672 15849931 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849143 M 10847 0 1 CASP9 nsv4033021 1 15848750 15855000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963798 M 10847 1 0 CASP9,DNAJC16 nsv1126181 1 15850300 15852200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984410 M 2 0 1 CASP9 KWS1 nsv1076153 1 15850399 15852900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763981 M 1 0 1 CASP9 KWP1 nsv954814 1 15850801 15852300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003097 M 1 0 1 CASP9 BILGI_BIOE nsv4050063 1 15864300 15864401 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849151 M 10847 0 1 DNAJC16 nsv6539303 1 15865862 15866397 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247110 M 19652 0 0 DNAJC16 nsv4563848 1 15871358 15871359 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027019 M 10847 1 0 DNAJC16 nsv4049065 1 15888097 15964416 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963799 M 10847 1 0 AGMAT,DDI2,DNAJC16 nsv4532768 1 15894803 15894804 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027027 M 10847 1 0 DNAJC16 nsv4567950 1 15896681 15896682 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027037 M 10847 1 0 DNAJC16 esv3662412 1 15898641 15898641 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485374 M 20 1 0 AGMAT nsv5828251 1 15898806 15905349 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451058 M 914 0 0 AGMAT nsv6335463 1 15903047 15934347 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052091 M 19652 0 1 AGMAT nsv6555317 1 15903282 15903818 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247135 M 19652 0 0 AGMAT esv3577747 1 15905974 15908390 CNV loss Uddin_et_al_2014 25503493 SNP array essv9799421 M 873 0 1 AGMAT 400845ML dgv28n166 1 15907204 15917848 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4040520,nsv4039486 M 10847 0 2 AGMAT nsv5868577 1 15908131 15908524 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364600 M 914 0 1 AGMAT nsv6334102 1 15908245 15917824 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052095 M 19652 0 1 AGMAT dgv116n152 1 15908278 15908669 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3192599,nsv3206940 M 9 0 5 AGMAT HG00512,HG00513,NA19238,NA19239,NA19240 nsv4533474 1 15912919 15912920 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027047 M 10847 1 0 "" esv29612 1 15913142 15913612 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv18278 M 40 1 0 "" NA19240 nsv6545001 1 15915671 15916317 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247143 M 19652 0 0 "" nsv3195804 1 15916532 15958564 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14253469 M 9 0 1 DDI2 NA19239 nsv6324850 1 15916741 15918280 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200540 M 19652 1 0 "" nsv6318176 1 15919496 15937295 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052108 M 19652 0 1 "" esv3585313 1 15920571 15937491 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863652,essv9863650,essv9863651,essv9863649,essv9863648,essv9863647 M 2504 0 6 "" HG02339,HG02476,HG02549,HG03298,NA19239,NA19834 dgv17e199 1 15920609 15937305 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2672627,esv2660595 M 1151 0 1 "" NA19834 nsv5565566 1 15920631 15937273 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060845 M 35 0 1 "" NA19239 nsv5430906 1 15920632 15937276 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897449 M 3202 0 1 "" nsv3209176 1 15920634 15937274 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14343325 M 9 0 1 "" NA19239 nsv4033568 1 15920665 15937252 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849177 M 10847 0 1 "" esv3585314 1 15923826 15927256 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863666,essv9863655,essv9863667,essv9863656,essv9863658,essv9863653,essv9863654,essv9863660,essv9863664,essv9863662,essv9863665,essv9863657,essv9863659,essv9863661,essv9863663 M 2504 0 15 "" HG01058,HG01885,HG02462,HG02476,HG02549,HG02645,HG02851,HG03132,HG03166,HG03189,HG03298,NA19121,NA19310,NA19443,NA19834 nsv5429714 1 15923852 15927306 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897451 M 3202 0 1 "" nsv4047102 1 15923868 15927306 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849186 M 10847 0 1 "" nsv6324305 1 15923886 15927306 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052109 M 19652 0 1 "" esv2663683 1 15923946 15927366 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6404860,essv6190839,essv6384427,essv6046980 M 1151 0 4 "" NA19439,NA19443,NA19469,NA19470 nsv6335039 1 15925496 15927695 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052110 M 19652 0 1 "" nsv6318553 1 15926262 15930011 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052112 M 19652 0 1 "" nsv5876251 1 15926613 15926941 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360802 M 914 0 1 "" esv3663940 1 15929312 15929374 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16486750 M 20 0 0 "" nsv945787 1 15930452 15931762 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755554,nssv1755598,nssv1755550,nssv1755618,nssv1755549,nssv1755574,nssv1755606,nssv1755597,nssv1755545,nssv1755576,nssv1755551,nssv1755581,nssv1755557,nssv1755592,nssv1755562,nssv1755588,nssv1755556,nssv1755571,nssv1755605,nssv1755620,nssv1755531,nssv1755622,nssv1755559,nssv1755595,nssv1755543,nssv1755586,nssv1755539,nssv1755619,nssv1755552,nssv1755565,nssv1755609,nssv1755600,nssv1755553,nssv1755567,nssv1755534,nssv1755617,nssv1755540,nssv1755568,nssv1755607,nssv1755579,nssv1755544,nssv1755593,nssv1755558,nssv1755577,nssv1755548,nssv1755566,nssv1755547,nssv1755596,nssv1755526,nssv1755570,nssv1755533,nssv1755589,nssv1755608,nssv1755616,nssv1755537,nssv1755572,nssv1755542,nssv1755587,nssv1755530,nssv1755591,nssv1755612,nssv1755614,nssv1755532,nssv1755583,nssv1755541,nssv1755590,nssv1755610,nssv1755602,nssv1755538,nssv1755582,nssv1755555,nssv1755601,nssv1755603,nssv1755575,nssv1755561,nssv1755621,nssv1755546,nssv1755564,nssv1755560,nssv1755585,nssv1755604,nssv1755578,nssv1755563,nssv1755615,nssv1755536,nssv1755599,nssv1755527,nssv1755573,nssv1755535,nssv1755569,nssv1755611,nssv1755613,nssv1755529,nssv1755580,nssv1755528,nssv1755584,nssv1755594 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3662546 1 15930791 15930791 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485495 M 20 1 0 "" nsv471769 1 15932973 15938422 CNV loss Hinds_et_al_2006 16327809 Oligo aCGH,PCR nssv646050 M 95 "" nsv4045953 1 15933793 15939225 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963800 M 10847 1 0 "" nsv6318848 1 15933817 15939182 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200919 M 19652 1 0 "" nsv6549686 1 15934063 15934289 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247148 M 19652 0 0 "" esv3664347 1 15934325 15934393 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16487116 M 20 0 0 "" nsv6329124 1 15934996 15936895 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052252 M 19652 0 1 "" nsv5417042 1 15935041 15938219 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897452 M 3202 0 1 "" nsv5876899 1 15935091 15938225 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354768 M 914 0 1 "" esv2661096 1 15935091 15938226 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6566730,essv6248093,essv6487434,essv5802283 M 1151 0 4 "" NA18499,NA18510,NA19172,NA19235 esv3585315 1 15935139 15938228 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863668,essv9863679,essv9863674,essv9863670,essv9863678,essv9863673,essv9863669,essv9863680,essv9863677,essv9863681,essv9863676,essv9863671,essv9863672,essv9863675 M 2504 0 14 "" HG01889,HG02318,HG02470,HG02537,HG02549,HG03073,HG03097,HG03109,HG03298,HG03442,NA18499,NA18510,NA19172,NA19235 nsv5828045 1 15935181 15938380 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468974 M 914 0 0 "" nsv6537310 1 15937561 15938124 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247150 M 19652 0 0 "" nsv6536652 1 15938690 15939340 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247151 M 19652 0 0 "" nsv6316159 1 15943696 15944195 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052253 M 19652 0 1 DDI2 nsv5422991 1 15944620 15947033 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897453 M 3202 1 0 DDI2 esv3302757 1 15944657 15947045 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7733047 M 185 1 0 DDI2 NA18501 nsv6548730 1 15956106 15956462 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247155 M 19652 0 0 DDI2 nsv1006877 1 15968610 16034201 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3698786 M 11257 1 0 DDI2,PLEKHM2,RSC1A1 esv3662695 1 15971082 15971082 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485629 M 20 1 0 DDI2 nsv6553129 1 15972909 15973927 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247743 M 19652 0 0 DDI2 nsv4052082 1 15975307 15975527 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849209 M 10847 0 1 DDI2 nsv6317381 1 15983451 15984775 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052270 M 19652 0 1 DDI2 nsv6553271 1 15984658 15985225 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247744 M 19652 0 0 DDI2 nsv4458972 1 15985852 15985853 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027056 M 10847 1 0 DDI2 nsv4459162 1 15986573 15986574 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027065 M 10847 1 0 DDI2,RSC1A1 nsv4045712 1 15987913 15988398 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849219 M 10847 0 1 RSC1A1 nsv6329858 1 15987913 15988398 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052275 M 19652 0 1 RSC1A1 nsv6332353 1 15991658 15993533 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052277 M 19652 0 1 "" nsv5727059 1 15992846 15992846 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17249037 M 3202 1 0 "" nsv5563083 1 15992846 15992897 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897456 M 3202 1 0 "" nsv6541907 1 15996912 15998031 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247749 M 19652 0 0 "" nsv6551762 1 15999114 15999569 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247751 M 19652 0 0 "" nsv6548198 1 16000854 16001732 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247752 M 19652 0 0 "" esv3585316 1 16001481 16009887 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863682,essv9863683 M 2504 0 2 "" HG01134,HG01357 esv2678818 1 16001499 16009817 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5600879,essv5804859 M 1151 0 2 "" HG01134,HG01357 nsv5432727 1 16001530 16009785 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897457 M 3202 0 1 "" nsv6333244 1 16001530 16009785 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052287 M 19652 0 1 "" nsv524044 1 16001588 16161836 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699908 M 2026 0 1 FBLIM1,FLJ37453,PLEKHM2,SLC25A34,TMEM82,UQCRHL nsv4459033 1 16003835 16003836 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027074 M 10847 1 0 "" nsv6331016 1 16004696 16239095 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200929 M 19652 1 0 FBLIM1,FLJ37453,PLEKHM2,SLC25A34,SPEN,TMEM82,UQCRHL esv28978 1 16009544 16011390 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv21090 M 40 1 0 PLEKHM2 NA06985 nsv545595 1 16009856 16010494 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710498,nssv710499 M 17421 1 1 "" dgv146n54 1 16009856 16010759 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545603,nsv545596,nsv545597 M 17421 0 3 "" dgv147n54 1 16009856 16011076 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545599,nsv545598 M 17421 11 2 PLEKHM2 dgv148n54 1 16009856 16011338 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545601,nsv545600 M 17421 6 0 PLEKHM2 nsv545602 1 16009958 16010582 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710521 M 17421 0 1 "" dgv149n54 1 16010062 16011279 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545604,nsv545611,nsv545610,nsv545609 M 17421 0 5 PLEKHM2 nsv545605 1 16010115 16010825 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710524 M 17421 0 1 "" dgv150n54 1 16010115 16011338 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545606,nsv545607,nsv545608 M 17421 7 0 PLEKHM2 nsv545612 1 16010494 16011338 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710536 M 17421 1 0 PLEKHM2 nsv545613 1 16010494 16015784 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710537 M 17421 0 1 PLEKHM2 nsv1076156 1 16010599 16011200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762740 M 1 0 1 PLEKHM2 KWP1 nsv1143439 1 16010600 16011300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980638 M 2 0 1 PLEKHM2 KWS1 dgv151n54 1 16012657 16095316 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545614,nsv545616,nsv545615 M 17421 3 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 HGDP00130,HGDP00160,HGDP00163 nsv6138285 1 16013819 16080998 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897459 M 3202 1 0 PLEKHM2,SLC25A34,TMEM82 nsv5887014 1 16013837 16080975 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17362091 M 914 1 0 PLEKHM2,SLC25A34,TMEM82 esv3585317 1 16013837 16080976 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863684,essv9863694,essv9863691,essv9863693,essv9863687,essv9863685,essv9863686,essv9863692,essv9863690,essv9863688,essv9863689 M 2504 11 0 PLEKHM2,SLC25A34,TMEM82 HG02690,HG03644,HG03653,HG03697,HG03713,HG03730,HG03754,HG03973,HG03976,HG04211,NA20874 dgv11n27 1 16015986 16095316 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460572,nsv460583 M 1557 2 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 HGDP00130,HGDP00160 esv2674903 1 16019636 16022170 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6211324 M 1151 0 1 PLEKHM2 HG00595 nsv5421311 1 16019686 16022157 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897476 M 3202 0 1 PLEKHM2 nsv6543785 1 16020868 16021252 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247754 M 19652 0 0 PLEKHM2 nsv6332654 1 16024357 16028937 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052291 M 19652 0 1 PLEKHM2 dgv29n166 1 16024357 16030646 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4038160,nsv4044095 M 10847 0 2 PLEKHM2 nsv954825 1 16025001 16080300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003108 M 1 0 1 PLEKHM2,SLC25A34,TMEM82 BILGI_BIOE nsv4036870 1 16026403 16169713 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963801 M 10847 1 0 FBLIM1,FLJ37453,PLEKHM2,SLC25A34,TMEM82,UQCRHL nsv5981649 1 16026403 16169720 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17528772 M 405 1 0 FBLIM1,FLJ37453,PLEKHM2,SLC25A34,TMEM82,UQCRHL nsv5828252 1 16026543 16037504 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467083 M 914 0 0 PLEKHM2 nsv6320302 1 16027570 16038485 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052293 M 19652 0 1 PLEKHM2 nsv6553859 1 16027930 16029064 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247755 M 19652 0 0 PLEKHM2 nsv5422282 1 16031992 16032085 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897487 M 3202 0 1 PLEKHM2 nsv4765305 1 16036026 16036026 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295388 M 25 1 0 PLEKHM2 esv3585319 1 16037975 16071850 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9863695,essv9863705,essv9863697,essv9863702,essv9863696,essv9863700,essv9863704,essv9863698,essv9863701,essv9863699,essv9863703 M 2504 11 0 PLEKHM2,SLC25A34,TMEM82 HG02690,HG03644,HG03653,HG03697,HG03713,HG03730,HG03754,HG03973,HG03976,HG04211,NA20874 nsv5828254 1 16041147 16066096 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466365 M 914 0 0 PLEKHM2,SLC25A34 nsv508925 1 16043591 16130068 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619773 M 4 1 0 FBLIM1,PLEKHM2,SLC25A34,TMEM82 NA10860 nsv545617 1 16048005 16097237 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173776 M 17421 0 1 FBLIM1,PLEKHM2,SLC25A34,TMEM82 1780862275_A dgv117n152 1 16049896 16051695 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3208519,nsv3203930 M 9 0 9 PLEKHM2 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4033962 1 16052956 16053174 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849263 M 10847 0 1 PLEKHM2 nsv6137955 1 16056664 16070165 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897498 M 3202 1 0 PLEKHM2,SLC25A34,TMEM82 nsv4517217 1 16061430 16061547 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849111 M 10847 0 1 "" nsv4046659 1 16062155 16069169 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849120 M 10847 0 1 SLC25A34,TMEM82 nsv5422098 1 16062155 16069169 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897519 M 3202 0 1 SLC25A34,TMEM82 nsv6334287 1 16063875 16086447 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052692 M 19652 0 1 FBLIM1,SLC25A34,TMEM82 nsv4040857 1 16072152 16077054 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849702 M 10847 0 1 TMEM82 nsv5428679 1 16072152 16077054 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897530 M 3202 0 1 TMEM82 nsv6329506 1 16072189 16077054 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052696 M 19652 0 1 TMEM82 nsv5828167 1 16073174 16080601 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459869 M 914 0 0 TMEM82 nsv5828048 1 16073274 16076773 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455276,nssv17462688 M 914 0 0 TMEM82 nsv6325050 1 16073764 16074720 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052697 M 19652 0 1 TMEM82 nsv5867620 1 16074093 16076707 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369353 M 914 0 1 TMEM82 nsv4050458 1 16075464 16079387 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849709 M 10847 0 1 "" nsv460594 1 16075906 16126207 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537135 M 1557 0 1 FBLIM1 NINDS_70 nsv545618 1 16075906 16126207 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173777 M 17421 0 1 FBLIM1 NINDS_70 nsv4047618 1 16078174 16078278 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963802 M 10847 1 0 "" nsv5884184 1 16079251 16079437 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366241 M 914 0 1 "" nsv5431712 1 16080186 16080255 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897546 M 3202 1 0 "" nsv5611058 1 16080188 16080188 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061204 M 35 1 0 "" HG02492 nsv6549495 1 16080943 16081446 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247765 M 19652 0 0 "" nsv1137733 1 16080989 16081056 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990240 M 2 0 1 "" KWS2 nsv1126182 1 16084900 16085400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984411 M 2 0 1 FBLIM1 KWS1 nsv6324672 1 16086878 16111873 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052700 M 19652 0 1 FBLIM1 nsv527046 1 16087260 16110815 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703422 M 2026 0 1 FBLIM1 esv3577748 1 16087824 16109638 CNV loss Uddin_et_al_2014 25503493 SNP array essv9799532 M 873 0 1 FBLIM1 401906DT nsv4567855 1 16093253 16093254 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027085 M 10847 1 0 FBLIM1 nsv5887528 1 16094764 16094946 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367104 M 914 0 1 FBLIM1 nsv4049601 1 16095160 16095278 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849718 M 10847 0 1 FBLIM1 nsv5416807 1 16095160 16095278 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897547 M 3202 0 1 FBLIM1 nsv4036517 1 16095859 16096036 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849725 M 10847 0 1 FBLIM1 nsv6316072 1 16102955 16123857 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200937 M 19652 1 0 FBLIM1 nsv6318046 1 16104198 16108322 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052711 M 19652 0 1 FBLIM1 esv3664668 1 16108231 16108425 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16487404 M 20 0 0 FBLIM1 nsv5423689 1 16111569 16111870 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897548 M 3202 0 1 FBLIM1 nsv5881490 1 16111603 16113445 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356206 M 914 0 1 FBLIM1 nsv5828049 1 16111737 16113536 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461018 M 914 0 0 FBLIM1 nsv6320213 1 16111963 16116827 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200939 M 19652 1 0 FBLIM1 nsv6326807 1 16114196 16116895 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052723 M 19652 0 1 "" nsv4037100 1 16115823 16117826 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849735 M 10847 0 1 "" nsv6331215 1 16115896 16119795 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052728 M 19652 0 1 "" nsv945788 1 16119357 16122517 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754987,nssv1755026,nssv1755628,nssv2568959,nssv1755623,nssv2568960,nssv1755029,nssv1755025,nssv1755648,nssv1755011,nssv1756094,nssv1755004,nssv1755637,nssv1755018,nssv1755647,nssv1754990,nssv1755627,nssv1755019,nssv1755031,nssv1755024,nssv1755643,nssv1755005,nssv1755652,nssv1754995,nssv1756096,nssv2568953,nssv1755655,nssv2568968,nssv1755644,nssv2568951,nssv1755030,nssv1755013,nssv1754984,nssv1754994,nssv1754986,nssv1755006,nssv1755631,nssv1755000,nssv1755650,nssv1754998,nssv1755654,nssv2568967,nssv1755638,nssv1756099,nssv1755640,nssv2568954,nssv1755630,nssv1755009,nssv1755653,nssv1755020,nssv1755641,nssv1754992,nssv1756095,nssv1755016,nssv1755639,nssv2568962,nssv1755635,nssv1754989,nssv1755651,nssv1756101,nssv1754988,nssv2568965,nssv1755028,nssv1756105,nssv1756093,nssv1754999,nssv1755645,nssv1755014,nssv1755629,nssv1756108,nssv1755642,nssv1756103,nssv1756098,nssv1755012,nssv1754985,nssv1755008,nssv1755634,nssv2568963,nssv1755636,nssv1754997,nssv1755649,nssv1755015,nssv1755646,nssv2568952,nssv1755624,nssv2568950,nssv1755633,nssv1756106,nssv1755626,nssv1755001,nssv1755632,nssv1754991,nssv1756097,nssv1756102,nssv1755625,nssv1756104,nssv1756107,nssv1754993,nssv1756100,nssv1755002,nssv2568964,nssv1754996,nssv1755021,nssv1755003,nssv1755027,nssv2568957,nssv1755023,nssv1755022,nssv1755017,nssv2568956,nssv1755010,nssv1755007,nssv2568961,nssv2568958 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4561748 1 16119782 16119783 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027093 M 10847 1 0 "" nsv833647 1 16120537 16278829 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1442996 M 95 0 1 FLJ37453,SPEN,UQCRHL,ZBTB17 nsv5981413 1 16123791 16124088 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523189 M 405 0 1 "" nsv4746681 1 16123796 16124093 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268032 M 25 0 1 "" nsv1002667 1 16124569 16135774 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465075 M 11257 1 0 UQCRHL nsv4051743 1 16124923 16125236 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963803 M 10847 1 0 "" nsv5578946 1 16125025 16125333 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061213 M 35 0 1 "" HG00732 nsv5883051 1 16125025 16125333 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351863 M 914 0 1 "" nsv3192678 1 16125025 16125334 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14341865 M 9 0 1 "" HG00733 esv3549121 1 16125025 16125367 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9747868 M 767 0 1 "" nsv3182002 1 16125026 16125335 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440210 M 9 0 1 "" HG00733 nsv6334327 1 16125086 16125511 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052733 M 19652 0 1 "" esv2744330 1 16125299 16125485 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6946493 M 96 0 1 "" SSM024 nsv5423911 1 16125354 16147651 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897550 M 3202 0 1 UQCRHL nsv5423324 1 16126967 16127046 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897551 M 3202 0 1 "" esv2758924 1 16127480 16155107 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756837 M 270 0 2 UQCRHL NA07019,NA12815 nsv545619 1 16129441 16161389 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710538 M 17421 0 1 FLJ37453,UQCRHL esv2672537 1 16129582 16131430 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6381980,essv5493439,essv6439037,essv5888075,essv5847534,essv6340165,essv6264811,essv6452740,essv6036373,essv6315106,essv6253229,essv5751674,essv6227263,essv6410505,essv6256469,essv6344540,essv5872941,essv6343216,essv5798425 M 1151 0 19 "" HG00261,NA18873,NA18950,NA18959,NA18988,NA19004,NA19060,NA19092,NA19116,NA19130,NA19172,NA19236,NA19713,NA19716,NA19835,NA19900,NA19920,NA20582,NA20799 dgv36n100 1 16131819 16154998 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010221,nsv999232,nsv1006630,nsv1011909,nsv1005130 M 11257 7 0 UQCRHL nsv6327348 1 16135915 16138316 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052739 M 19652 0 1 "" nsv3409 1 16136483 16179189 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8042 M 9 0 1 FLJ37453,SPEN NA12156 nsv6321107 1 16137547 16146051 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052740 M 19652 0 1 "" nsv3210025 1 16138954 16159322 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255159,nssv14255158,nssv14255160,nssv14255157 M 9 0 4 "" HG00513,HG00514,HG00732,NA19238 nsv4050173 1 16139198 16148287 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963804 M 10847 1 0 "" esv3662825 1 16139732 16139732 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485746 M 20 1 0 "" dgv93n223 1 16139982 16141518 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6551165,nsv6545470 M 19652 0 0 "" nsv6323541 1 16140919 16141589 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200942 M 19652 1 0 "" nsv6325869 1 16141188 16155762 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052745 M 19652 0 1 "" nsv5605459 1 16142824 16142824 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061216 M 35 1 0 "" NA19983 nsv4536333 1 16142824 16142825 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027104 M 10847 1 0 "" nsv5534873 1 16142840 16142875 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897553 M 3202 1 0 "" nsv4459043 1 16143187 16143188 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027115 M 10847 1 0 "" nsv6335396 1 16145496 16187495 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200943 M 19652 1 0 FLJ37453,SPEN nsv954836 1 16145501 16155600 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003119 M 1 0 1 "" BILGI_BIOE nsv5872396 1 16145759 16146069 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366469 M 914 0 1 "" nsv5432801 1 16146169 16148836 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897562 M 3202 0 1 "" esv2677120 1 16146192 16148782 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5492044,essv5659106 M 1151 0 2 "" NA18616,NA18617 nsv6545965 1 16147985 16148350 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247775 M 19652 0 0 "" nsv5981416 1 16148250 16148402 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523626 M 405 0 1 "" nsv511126 1 16149301 16161836 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626032 M 1 0 1 FLJ37453 1 nsv5430880 1 16149515 16150912 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898497 M 3202 0 1 "" dgv37n100 1 16149903 16250533 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002341,nsv1005932,nsv1000044,nsv1011973,nsv1011856,nsv1008828,nsv1006258,nsv1001014,nsv1005322 M 11257 14 0 FLJ37453,SPEN esv3584590 1 16149915 16155010 CNV loss Mokhtar_et_al_2014 24956385 SNP array essv9838024,essv9838026,essv9838025 M 34 0 3 "" OA053,OA054,OA062 dgv18e199 1 16150338 16156992 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2671254,esv2669666,esv2667258 M 1151 0 76 "" HG00553,HG00554,HG00640,HG00641,HG00732,HG00737,HG00740,HG01047,HG01051,HG01052,HG01055,HG01060,HG01069,HG01072,HG01079,HG01080,HG01082,HG01095,HG01097,HG01098,HG01101,HG01102,HG01107,HG01167,HG01168,HG01174,HG01176,HG01182,HG01187,HG01191,HG01197,HG01515,HG01516,HG01519,NA20502,NA20505,NA20506,NA20515,NA20516,NA20517,NA20519,NA20520,NA20522,NA20527,NA20530,NA20533,NA20535,NA20536,NA20537,NA20538,NA20540,NA20542,NA20582,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20759,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20786,NA20787,NA20796,NA20807,NA20809,NA20810,NA20811,NA20815 nsv6324373 1 16150623 16158161 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052750 M 19652 0 1 "" esv2763791 1 16151627 16155010 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv6994744,essv6995077,essv6995744,essv6995855,essv6995411,essv6996188,essv6994966,essv6995966,essv6994633,essv6995189,essv6995522,essv6995300,essv6994855,essv6996077,essv6995633 M 1109 0 15 "" SW_0008,SW_0009,SW_0158,SW_0173,SW_0215,SW_0255,SW_0634,SW_0691,SW_0847,SW_0888,SW_1038,SW_1126,SW_1148,SW_1171,SW_1355 esv3585321 1 16151682 16155632 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9864448,essv9864675,essv9864413,essv9864503,essv9864365,essv9864596,essv9864355,essv9864528,essv9864405,essv9864513,essv9864213,essv9864539,essv9864366,essv9864690,essv9864210,essv9864627,essv9864327,essv9864697,essv9864315,essv9864502,essv9864432,essv9864609,essv9864445,essv9864542,essv9864328,essv9864658,essv9864208,essv9864531,essv9864239,essv9864671,essv9864267,essv9864510,essv9864278,essv9864696,essv9864288,essv9864527,essv9864375,essv9864625,essv9864253,essv9864587,essv9864379,essv9864538,essv9864408,essv9864501,essv9864241,essv9864504,essv9864360,essv9864634,essv9864397,essv9864583,essv9864270,essv9864679,essv9864223,essv9864631,essv9864257,essv9864674,essv9864292,essv9864576,essv9864217,essv9864633,essv9864242,essv9864532,essv9864422,essv9864512,essv9864250,essv9864649,essv9864334,essv9864525,essv9864273,essv9864555,essv9864380,essv9864580,essv9864426,essv9864605,essv9864258,essv9864623,essv9864227,essv9864682,essv9864311,essv9864589,essv9864331,essv9864610,essv9864367,essv9864549,essv9864382,essv9864579,essv9864272,essv9864602,essv9864212,essv9864519,essv9864337,essv9864685,essv9864444,essv9864603,essv9864320,essv9864505,essv9864248,essv9864638,essv9864441,essv9864547,essv9864310,essv9864678,essv9864381,essv9864564,essv9864423,essv9864693,essv9864221,essv9864516,essv9864358,essv9864540,essv9864209,essv9864541,essv9864255,essv9864681,essv9864243,essv9864572,essv9864232,essv9864641,essv9864216,essv9864622,essv9864319,essv9864652,essv9864424,essv9864612,essv9864332,essv9864591,essv9864401,essv9864554,essv9864215,essv9864646,essv9864225,essv9864635,essv9864312,essv9864521,essv9864294,essv9864574,essv9864286,essv9864533,essv9864293,essv9864526,essv9864264,essv9864595,essv9864371,essv9864506,essv9864321,essv9864628,essv9864297,essv9864663,essv9864387,essv9864637,essv9864376,essv9864509,essv9864333,essv9864615,essv9864406,essv9864688,essv9864361,essv9864673,essv9864304,essv9864668,essv9864298,essv9864664,essv9864429,essv9864553,essv9864386,essv9864592,essv9864251,essv9864517,essv9864246,essv9864508,essv9864269,essv9864556,essv9864276,essv9864695,essv9864395,essv9864611,essv9864224,essv9864619,essv9864330,essv9864575,essv9864359,essv9864535,essv9864394,essv9864571,essv9864245,essv9864518,essv9864345,essv9864666,essv9864254,essv9864629,essv9864317,essv9864545,essv9864353,essv9864569,essv9864418,essv9864642,essv9864279,essv9864692,essv9864400,essv9864667,essv9864214,essv9864520,essv9864388,essv9864548,essv9864399,essv9864626,essv9864207,essv9864507,essv9864350,essv9864670,essv9864369,essv9864543,essv9864427,essv9864599,essv9864309,essv9864661,essv9864402,essv9864594,essv9864244,essv9864585,essv9864323,essv9864645,essv9864300,essv9864614,essv9864262,essv9864514,essv9864437,essv9864573,essv9864435,essv9864680,essv9864420,essv9864689,essv9864299,essv9864613,essv9864340,essv9864660,essv9864378,essv9864691,essv9864301,essv9864601,essv9864324,essv9864616,essv9864398,essv9864606,essv9864307,essv9864600,essv9864313,essv9864654,essv9864348,essv9864617,essv9864259,essv9864650,essv9864247,essv9864662,essv9864407,essv9864550,essv9864347,essv9864566,essv9864403,essv9864568,essv9864282,essv9864677,essv9864283,essv9864537,essv9864446,essv9864552,essv9864425,essv9864515,essv9864419,essv9864524,essv9864305,essv9864640,essv9864354,essv9864621,essv9864368,essv9864522,essv9864303,essv9864598,essv9864416,essv9864581,essv9864326,essv9864563,essv9864390,essv9864567,essv9864438,essv9864683,essv9864421,essv9864551,essv9864316,essv9864608,essv9864275,essv9864686,essv9864291,essv9864593,essv9864296,essv9864558,essv9864412,essv9864577,essv9864289,essv9864630,essv9864431,essv9864694,essv9864404,essv9864578,essv9864341,essv9864534,essv9864433,essv9864655,essv9864374,essv9864676,essv9864261,essv9864607,essv9864329,essv9864657,essv9864362,essv9864672,essv9864231,essv9864669,essv9864436,essv9864529,essv9864256,essv9864651,essv9864410,essv9864590,essv9864233,essv9864618,essv9864389,essv9864653,essv9864295,essv9864544,essv9864428,essv9864620,essv9864318,essv9864586,essv9864308,essv9864659,essv9864240,essv9864656,essv9864417,essv9864559,essv9864351,essv9864588,essv9864230,essv9864604,essv9864430,essv9864546,essv9864229,essv9864562,essv9864342,essv9864687,essv9864325,essv9864530,essv9864414,essv9864523,essv9864228,essv9864639,essv9864434,essv9864636,essv9864356,essv9864511,essv9864372,essv9864665,essv9864260,essv9864643,essv9864274,essv9864560,essv9864222,essv9864632,essv9864226,essv9864584,essv9864249,essv9864647,essv9864393,essv9864597,essv9864271,essv9864684,essv9864352,essv9864565,essv9864357,essv9864536,essv9864439,essv9864561,essv9864415,essv9864644,essv9864302,essv9864624,essv9864219,essv9864570,essv9864220,essv9864582,essv9864284,essv9864557,essv9864335,essv9864648,essv9864238,essv9864064,essv9864115,essv9864280,essv9863998,essv9864155,essv9864211,essv9864044,essv9864199,essv9864363,essv9864007,essv9864200,essv9864237,essv9863987,essv9864183,essv9864396,essv9864080,essv9864194,essv9864277,essv9863986,essv9864178,essv9864265,essv9864093,essv9864146,essv9864252,essv9864091,essv9864122,essv9864373,essv9863980,essv9864165,essv9864236,essv9864034,essv9864110,essv9864343,essv9864006,essv9864171,essv9864339,essv9863981,essv9864163,essv9864391,essv9864002,essv9864182,essv9864370,essv9864009,essv9864132,essv9864281,essv9864099,essv9864125,essv9864349,essv9864097,essv9864177,essv9864383,essv9864071,essv9864158,essv9864344,essv9864090,essv9864184,essv9864364,essv9864035,essv9864117,essv9864384,essv9863997,essv9864202,essv9864306,essv9864001,essv9864153,essv9864285,essv9864109,essv9864124,essv9864338,essv9864095,essv9864180,essv9864442,essv9864043,essv9864168,essv9864336,essv9864028,essv9864141,essv9864266,essv9864070,essv9864149,essv9864314,essv9864102,essv9864162,essv9864290,essv9864049,essv9864189,essv9864411,essv9864086,essv9864119,essv9864234,essv9864017,essv9864195,essv9864322,essv9864008,essv9864147,essv9864443,essv9864047,essv9864205,essv9864392,essv9864020,essv9864190,essv9864287,essv9864032,essv9864137,essv9864235,essv9864010,essv9864136,essv9864385,essv9863982,essv9864129,essv9864268,essv9863991,essv9864133,essv9864218,essv9864075,essv9864203,essv9864346,essv9864073,essv9864150,essv9864377,essv9864056,essv9864116,essv9864263,essv9864045,essv9864196,essv9864409,essv9863993,essv9864192,essv9864447,essv9864089,essv9864138,essv9864440,essv9864059,essv9864179,essv9864033,essv9864166,essv9864072,essv9864135,essv9863992,essv9864186,essv9864048,essv9864120,essv9864041,essv9864118,essv9864000,essv9864181,essv9864003,essv9864170,essv9864014,essv9864142,essv9863996,essv9864176,essv9864052,essv9864204,essv9863989,essv9864197,essv9864101,essv9864198,essv9864038,essv9864172,essv9864025,essv9864128,essv9864103,essv9864161,essv9864013,essv9864126,essv9864054,essv9864140,essv9864068,essv9864134,essv9864105,essv9864159,essv9864057,essv9864173,essv9863972,essv9864139,essv9863976,essv9864112,essv9864027,essv9864152,essv9864030,essv9864193,essv9864096,essv9864111,essv9864016,essv9864169,essv9863999,essv9864188,essv9863968,essv9864143,essv9864081,essv9864144,essv9864067,essv9864113,essv9864078,essv9864201,essv9863985,essv9864175,essv9863983,essv9864121,essv9864066,essv9864127,essv9864021,essv9864191,essv9864037,essv9864123,essv9864051,essv9864174,essv9864050,essv9864157,essv9864026,essv9864206,essv9864062,essv9864185,essv9863979,essv9864187,essv9864082,essv9864148,essv9864098,essv9864164,essv9864053,essv9864145,essv9864055,essv9864130,essv9864092,essv9864151,essv9864087,essv9864167,essv9864004,essv9864114,essv9864074,essv9864131,essv9864108,essv9864160,essv9863970,essv9864156,essv9864039,essv9864154,essv9864058,essv9864500,essv9864088,essv9864474,essv9864036,essv9864476,essv9864063,essv9864497,essv9864012,essv9864492,essv9864060,essv9864494,essv9863969,essv9864479,essv9864107,essv9864455,essv9864022,essv9864481,essv9863978,essv9864466,essv9864015,essv9864483,essv9863977,essv9864484,essv9864104,essv9864456,essv9863975,essv9864467,essv9864084,essv9864454,essv9864079,essv9864493,essv9864019,essv9864458,essv9863973,essv9864465,essv9864046,essv9864496,essv9864083,essv9864478,essv9863990,essv9864495,essv9864076,essv9864480,essv9863984,essv9864488,essv9864005,essv9864472,essv9864018,essv9864464,essv9864069,essv9864491,essv9864024,essv9864490,essv9863995,essv9864468,essv9864106,essv9864463,essv9863974,essv9864460,essv9864031,essv9864475,essv9864029,essv9864477,essv9864011,essv9864459,essv9864042,essv9864499,essv9864100,essv9864485,essv9864040,essv9864453,essv9864094,essv9864469,essv9863994,essv9864451,essv9864077,essv9864449,essv9864061,essv9864450,essv9864023,essv9864470,essv9864065,essv9864487,essv9863988,essv9864471,essv9863971,essv9864473,essv9864085,essv9864452,essv9863730,essv9864461,essv9863731,essv9864489,essv9863794,essv9864457,essv9863732,essv9864462,essv9863733,essv9864482,essv9863814,essv9864486,essv9863734,essv9864498,essv9863735,essv9863838,essv9863736,essv9863831,essv9863810,essv9863829,essv9863737,essv9863919,essv9863738,essv9863843,essv9863739,essv9863921,essv9863740,essv9863929,essv9863741,essv9863826,essv9863789,essv9863858,essv9863793,essv9863941,essv9863742,essv9863824,essv9863792,essv9863837,essv9863807,essv9863841,essv9863790,essv9863938,essv9863806,essv9863910,essv9863788,essv9863874,essv9863743,essv9863912,essv9863744,essv9863893,essv9863797,essv9863888,essv9863803,essv9863905,essv9863799,essv9863965,essv9863745,essv9863908,essv9863800,essv9863870,essv9863746,essv9863947,essv9863809,essv9863876,essv9863707,essv9863828,essv9863747,essv9863927,essv9863748,essv9863846,essv9863708,essv9863958,essv9863804,essv9863825,essv9863798,essv9863864,essv9863749,essv9863922,essv9863808,essv9863866,essv9863750,essv9863957,essv9863709,essv9863948,essv9863751,essv9863943,essv9863710,essv9863879,essv9863752,essv9863872,essv9863753,essv9863923,essv9863754,essv9863945,essv9863811,essv9863914,essv9863711,essv9863832,essv9863755,essv9863906,essv9863756,essv9863848,essv9863757,essv9863936,essv9863815,essv9863884,essv9863796,essv9863816,essv9863758,essv9863962,essv9863759,essv9863960,essv9863760,essv9863857,essv9863761,essv9863896,essv9863712,essv9863886,essv9863713,essv9863951,essv9863762,essv9863900,essv9863791,essv9863847,essv9863714,essv9863939,essv9863763,essv9863892,essv9863764,essv9863853,essv9863765,essv9863899,essv9863766,essv9863959,essv9863812,essv9863836,essv9863767,essv9863916,essv9863715,essv9863861,essv9863813,essv9863878,essv9863716,essv9863821,essv9863768,essv9863852,essv9863802,essv9863822,essv9863769,essv9863889,essv9863717,essv9863901,essv9863805,essv9863880,essv9863770,essv9863952,essv9863771,essv9863869,essv9863718,essv9863827,essv9863772,essv9863934,essv9863773,essv9863940,essv9863801,essv9863911,essv9863795,essv9863823,essv9863719,essv9863845,essv9863774,essv9863833,essv9863720,essv9863894,essv9863775,essv9863881,essv9863776,essv9863925,essv9863721,essv9863883,essv9863777,essv9863963,essv9863778,essv9863871,essv9863722,essv9863949,essv9863779,essv9863868,essv9863723,essv9863930,essv9863780,essv9863920,essv9863781,essv9863954,essv9863724,essv9863942,essv9863725,essv9863933,essv9863726,essv9863937,essv9863782,essv9863885,essv9863783,essv9863840,essv9863727,essv9863863,essv9863784,essv9863953,essv9863728,essv9863819,essv9863785,essv9863931,essv9863786,essv9863862,essv9863787,essv9863944,essv9863729,essv9863834,essv9863851,essv9863860,essv9863867,essv9863877,essv9863898,essv9863961,essv9863818,essv9863932,essv9863854,essv9863966,essv9863903,essv9863895,essv9863855,essv9863950,essv9863967,essv9863924,essv9863964,essv9863859,essv9863839,essv9863865,essv9863891,essv9863835,essv9863897,essv9863902,essv9863915,essv9863928,essv9863830,essv9863875,essv9863817,essv9863844,essv9863918,essv9863926,essv9863873,essv9863890,essv9863955,essv9863856,essv9863820,essv9863946,essv9863917,essv9863907,essv9863850,essv9863913,essv9863842,essv9863887,essv9863909,essv9863956,essv9863935,essv9863882,essv9863904,essv9863849 M 2504 0 991 "" HG00097,HG00099,HG00101,HG00102,HG00105,HG00110,HG00111,HG00112,HG00114,HG00115,HG00116,HG00117,HG00119,HG00120,HG00121,HG00122,HG00125,HG00126,HG00127,HG00128,HG00129,HG00130,HG00133,HG00142,HG00143,HG00148,HG00149,HG00151,HG00154,HG00155,HG00157,HG00159,HG00160,HG00171,HG00173,HG00176,HG00180,HG00182,HG00185,HG00187,HG00231,HG00233,HG00234,HG00237,HG00238,HG00239,HG00242,HG00244,HG00246,HG00250,HG00251,HG00253,HG00255,HG00256,HG00257,HG00258,HG00261,HG00262,HG00263,HG00264,HG00265,HG00267,HG00268,HG00271,HG00272,HG00273,HG00274,HG00277,HG00280,HG00281,HG00282,HG00285,HG00304,HG00306,HG00309,HG00311,HG00313,HG00318,HG00321,HG00323,HG00327,HG00328,HG00329,HG00330,HG00334,HG00335,HG00336,HG00337,HG00342,HG00343,HG00345,HG00349,HG00350,HG00355,HG00358,HG00360,HG00361,HG00362,HG00365,HG00366,HG00367,HG00369,HG00371,HG00373,HG00378,HG00379,HG00381,HG00419,HG00445,HG00478,HG00479,HG00513,HG00524,HG00525,HG00542,HG00553,HG00554,HG00559,HG00580,HG00581,HG00598,HG00607,HG00619,HG00637,HG00640,HG00641,HG00656,HG00671,HG00684,HG00701,HG00707,HG00729,HG00732,HG00737,HG00739,HG00740,HG00743,HG00864,HG00956,HG01047,HG01049,HG01052,HG01054,HG01055,HG01058,HG01060,HG01064,HG01069,HG01072,HG01077,HG01079,HG01080,HG01082,HG01094,HG01095,HG01098,HG01101,HG01102,HG01107,HG01110,HG01111,HG01113,HG01119,HG01122,HG01125,HG01130,HG01131,HG01139,HG01142,HG01162,HG01167,HG01168,HG01174,HG01176,HG01177,HG01182,HG01187,HG01191,HG01197,HG01242,HG01247,HG01248,HG01250,HG01251,HG01256,HG01257,HG01259,HG01269,HG01277,HG01280,HG01281,HG01302,HG01305,HG01308,HG01311,HG01312,HG01325,HG01326,HG01334,HG01342,HG01345,HG01351,HG01353,HG01356,HG01359,HG01360,HG01362,HG01372,HG01374,HG01375,HG01377,HG01383,HG01389,HG01396,HG01402,HG01412,HG01413,HG01435,HG01437,HG01438,HG01441,HG01443,HG01461,HG01468,HG01474,HG01479,HG01486,HG01491,HG01492,HG01494,HG01495,HG01497,HG01498,HG01500,HG01501,HG01503,HG01504,HG01507,HG01510,HG01512,HG01513,HG01515,HG01516,HG01518,HG01519,HG01528,HG01531,HG01556,HG01571,HG01577,HG01578,HG01583,HG01589,HG01599,HG01602,HG01603,HG01605,HG01615,HG01619,HG01623,HG01631,HG01668,HG01669,HG01673,HG01676,HG01678,HG01679,HG01680,HG01684,HG01685,HG01686,HG01694,HG01697,HG01699,HG01702,HG01704,HG01707,HG01709,HG01710,HG01746,HG01747,HG01757,HG01766,HG01767,HG01768,HG01771,HG01773,HG01777,HG01779,HG01781,HG01786,HG01789,HG01797,HG01804,HG01805,HG01807,HG01808,HG01812,HG01813,HG01844,HG01850,HG01852,HG01862,HG01868,HG01869,HG01871,HG01874,HG01878,HG01892,HG01896,HG01917,HG01921,HG01924,HG01926,HG01927,HG01932,HG01933,HG01935,HG01944,HG01945,HG01948,HG01950,HG01954,HG01961,HG01965,HG01967,HG01968,HG01970,HG01973,HG01974,HG01976,HG01982,HG01988,HG01989,HG01997,HG02002,HG02003,HG02008,HG02009,HG02010,HG02016,HG02019,HG02048,HG02064,HG02075,HG02076,HG02079,HG02086,HG02089,HG02102,HG02104,HG02105,HG02108,HG02134,HG02142,HG02146,HG02147,HG02151,HG02152,HG02155,HG02165,HG02179,HG02186,HG02187,HG02188,HG02215,HG02219,HG02223,HG02230,HG02231,HG02235,HG02236,HG02239,HG02250,HG02252,HG02260,HG02262,HG02265,HG02266,HG02271,HG02275,HG02277,HG02278,HG02286,HG02291,HG02301,HG02304,HG02308,HG02325,HG02343,HG02348,HG02367,HG02379,HG02384,HG02399,HG02402,HG02407,HG02408,HG02409,HG02425,HG02442,HG02455,HG02471,HG02491,HG02493,HG02494,HG02513,HG02522,HG02541,HG02545,HG02580,HG02585,HG02594,HG02597,HG02600,HG02601,HG02603,HG02604,HG02648,HG02649,HG02651,HG02652,HG02654,HG02655,HG02657,HG02658,HG02660,HG02661,HG02666,HG02682,HG02684,HG02685,HG02687,HG02688,HG02690,HG02691,HG02694,HG02696,HG02697,HG02699,HG02700,HG02716,HG02724,HG02725,HG02727,HG02728,HG02731,HG02736,HG02737,HG02760,HG02774,HG02775,HG02778,HG02780,HG02786,HG02789,HG02790,HG02792,HG02793,HG02804,HG02811,HG02836,HG02851,HG02885,HG02981,HG03006,HG03007,HG03012,HG03016,HG03018,HG03019,HG03021,HG03066,HG03072,HG03077,HG03079,HG03091,HG03115,HG03136,HG03159,HG03224,HG03225,HG03228,HG03229,HG03234,HG03235,HG03238,HG03247,HG03268,HG03271,HG03279,HG03280,HG03343,HG03351,HG03376,HG03401,HG03419,HG03439,HG03464,HG03470,HG03485,HG03491,HG03514,HG03517,HG03563,HG03593,HG03594,HG03595,HG03598,HG03603,HG03611,HG03624,HG03625,HG03629,HG03636,HG03642,HG03643,HG03644,HG03646,HG03652,HG03653,HG03663,HG03668,HG03672,HG03681,HG03686,HG03687,HG03689,HG03691,HG03692,HG03694,HG03695,HG03696,HG03697,HG03702,HG03703,HG03705,HG03708,HG03709,HG03713,HG03714,HG03717,HG03720,HG03727,HG03729,HG03730,HG03731,HG03741,HG03742,HG03743,HG03744,HG03745,HG03746,HG03750,HG03752,HG03753,HG03754,HG03755,HG03756,HG03760,HG03771,HG03772,HG03773,HG03774,HG03777,HG03778,HG03780,HG03782,HG03784,HG03785,HG03787,HG03792,HG03793,HG03796,HG03802,HG03803,HG03805,HG03808,HG03809,HG03814,HG03815,HG03817,HG03821,HG03824,HG03829,HG03830,HG03832,HG03833,HG03836,HG03837,HG03838,HG03844,HG03846,HG03849,HG03854,HG03856,HG03862,HG03863,HG03864,HG03866,HG03869,HG03870,HG03872,HG03873,HG03875,HG03882,HG03884,HG03885,HG03887,HG03888,HG03890,HG03894,HG03895,HG03896,HG03897,HG03898,HG03902,HG03910,HG03911,HG03919,HG03920,HG03925,HG03926,HG03928,HG03931,HG03934,HG03941,HG03943,HG03944,HG03945,HG03949,HG03951,HG03953,HG03960,HG03963,HG03967,HG03968,HG03969,HG03971,HG03973,HG03974,HG03976,HG03977,HG03978,HG03985,HG03986,HG03990,HG03995,HG03998,HG03999,HG04001,HG04006,HG04014,HG04015,HG04019,HG04020,HG04022,HG04026,HG04038,HG04047,HG04056,HG04059,HG04060,HG04061,HG04062,HG04063,HG04075,HG04076,HG04090,HG04093,HG04096,HG04106,HG04131,HG04134,HG04140,HG04141,HG04144,HG04146,HG04152,HG04153,HG04156,HG04159,HG04162,HG04164,HG04173,HG04176,HG04177,HG04182,HG04183,HG04185,HG04186,HG04188,HG04189,HG04194,HG04195,HG04200,HG04210,HG04214,HG04216,HG04219,HG04227,HG04235,NA06985,NA06986,NA06989,NA07048,NA07056,NA07357,NA11829,NA11830,NA11832,NA11840,NA11881,NA11894,NA11918,NA11920,NA11930,NA11931,NA11932,NA11933,NA11994,NA11995,NA12003,NA12004,NA12005,NA12043,NA12058,NA12144,NA12156,NA12234,NA12249,NA12272,NA12273,NA12275,NA12286,NA12342,NA12347,NA12400,NA12413,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12760,NA12761,NA12763,NA12775,NA12776,NA12778,NA12813,NA12814,NA12815,NA12828,NA12830,NA12842,NA12843,NA12872,NA12878,NA12889,NA12890,NA18498,NA18533,NA18542,NA18544,NA18564,NA18599,NA18609,NA18615,NA18618,NA18626,NA18627,NA18646,NA18853,NA18868,NA18873,NA18874,NA18924,NA19017,NA19019,NA19025,NA19028,NA19030,NA19086,NA19089,NA19090,NA19098,NA19171,NA19175,NA19316,NA19338,NA19360,NA19372,NA19376,NA19378,NA19379,NA19385,NA19391,NA19393,NA19404,NA19429,NA19438,NA19448,NA19456,NA19463,NA19468,NA19648,NA19651,NA19654,NA19663,NA19664,NA19669,NA19670,NA19678,NA19679,NA19682,NA19684,NA19701,NA19704,NA19719,NA19720,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19734,NA19740,NA19741,NA19747,NA19750,NA19752,NA19756,NA19771,NA19774,NA19776,NA19783,NA19785,NA19786,NA19788,NA19922,NA19923,NA19984,NA20126,NA20278,NA20296,NA20314,NA20320,NA20332,NA20348,NA20412,NA20502,NA20505,NA20506,NA20509,NA20511,NA20512,NA20515,NA20516,NA20517,NA20519,NA20520,NA20521,NA20522,NA20527,NA20530,NA20533,NA20535,NA20536,NA20538,NA20540,NA20542,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20759,NA20760,NA20762,NA20763,NA20764,NA20766,NA20767,NA20769,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20786,NA20787,NA20792,NA20795,NA20796,NA20797,NA20799,NA20800,NA20803,NA20804,NA20806,NA20807,NA20809,NA20810,NA20811,NA20812,NA20813,NA20814,NA20815,NA20818,NA20822,NA20826,NA20832,NA20845,NA20847,NA20849,NA20850,NA20852,NA20853,NA20856,NA20858,NA20859,NA20862,NA20863,NA20864,NA20866,NA20867,NA20868,NA20869,NA20872,NA20874,NA20876,NA20881,NA20882,NA20884,NA20885,NA20887,NA20890,NA20891,NA20892,NA20894,NA20895,NA20897,NA20899,NA20900,NA20903,NA20905,NA20906,NA20908,NA20910,NA21087,NA21090,NA21092,NA21094,NA21095,NA21097,NA21099,NA21100,NA21103,NA21104,NA21106,NA21107,NA21108,NA21110,NA21111,NA21112,NA21116,NA21117,NA21118,NA21120,NA21122,NA21123,NA21124,NA21125,NA21126,NA21128,NA21130,NA21133,NA21137,NA21141,NA21142,NA21144 nsv5878065 1 16151731 16153383 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356731 M 914 0 1 "" nsv6321873 1 16151759 16153371 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052751 M 19652 0 1 "" nsv511677 1 16151770 16155798 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626315 M 1 0 1 "" 1 esv3549232 1 16151839 16155638 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9747979 M 767 0 1 "" esv2744341 1 16151897 16155437 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6874703,essv6859190,essv6892317,essv6859189,essv6895846,essv6810338,essv6868712,essv6807377,essv6784576,essv6954739,essv6707268,essv6906098,essv6686152,essv6847016,essv6744933,essv6725848,essv6747775,essv6836188,essv6742139,essv6804401,essv6776934,essv6946494,essv6666896,essv6937677,essv6972342,essv6714242,essv6876798,essv6682826,essv6756547,essv6750596,essv6703862 M 96 0 30 "" SSM009,SSM012,SSM014,SSM022,SSM024,SSM026,SSM029,SSM030,SSM034,SSM035,SSM040,SSM041,SSM043,SSM046,SSM053,SSM055,SSM056,SSM057,SSM059,SSM067,SSM074,SSM075,SSM076,SSM083,SSM086,SSM088,SSM090,SSM092,SSM098,SSM099 dgv46n106 1 16151900 16155600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1135305,nsv1121067 M 2 0 1 "" KWS2 nsv1075218 1 16151904 16155439 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770625 M 1 0 1 "" KWP1 esv2853347 1 16151922 16155357 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7122914 M 1 0 1 "" HuRef esv1010744 1 16151931 16158109 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564107 M 3 0 1 "" HuRef nsv3172394 1 16151935 16155419 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14415551 M 9 0 1 "" HG00514 nsv3526464 1 16151935 16155429 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14341404,nssv14341405,nssv14341403,nssv14341406 M 9 0 4 "" HG00512,HG00513,HG00514,HG00732 nsv4047804 1 16151935 16155439 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849771 M 10847 0 1 "" nsv5428471 1 16151935 16155439 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898508 M 3202 0 1 "" nsv6330203 1 16151935 16155439 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052752 M 19652 0 1 "" nsv4742636 1 16151935 16155440 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16269978 M 25 0 1 "" dgv19e199 1 16151935 16155538 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2666280,esv2663874,esv2658702 M 1151 0 310 "" HG00111,HG00112,HG00114,HG00116,HG00117,HG00119,HG00120,HG00122,HG00124,HG00125,HG00126,HG00127,HG00133,HG00142,HG00143,HG00148,HG00149,HG00151,HG00152,HG00154,HG00155,HG00156,HG00157,HG00158,HG00159,HG00160,HG00171,HG00173,HG00176,HG00180,HG00182,HG00185,HG00231,HG00233,HG00237,HG00239,HG00242,HG00244,HG00246,HG00247,HG00249,HG00250,HG00251,HG00253,HG00256,HG00257,HG00258,HG00261,HG00262,HG00263,HG00264,HG00265,HG00267,HG00268,HG00271,HG00272,HG00274,HG00277,HG00280,HG00281,HG00282,HG00285,HG00306,HG00309,HG00312,HG00323,HG00327,HG00328,HG00329,HG00334,HG00335,HG00336,HG00337,HG00342,HG00343,HG00345,HG00366,HG00367,HG00369,HG00373,HG00377,HG00478,HG00479,HG00501,HG00512,HG00524,HG00525,HG00553,HG00554,HG00559,HG00578,HG00580,HG00581,HG00607,HG00619,HG00635,HG00637,HG00640,HG00641,HG00656,HG00671,HG00701,HG00702,HG00707,HG00732,HG00737,HG00740,HG01047,HG01052,HG01055,HG01060,HG01066,HG01069,HG01072,HG01079,HG01080,HG01082,HG01095,HG01101,HG01107,HG01113,HG01125,HG01167,HG01174,HG01176,HG01187,HG01191,HG01250,HG01251,HG01334,HG01342,HG01351,HG01353,HG01356,HG01359,HG01360,HG01365,HG01374,HG01375,HG01377,HG01383,HG01389,HG01437,HG01441,HG01456,HG01461,HG01491,HG01492,HG01494,HG01495,HG01497,HG01498,HG01515,HG01518,NA06986,NA06989,NA07048,NA07056,NA07346,NA07357,NA11829,NA11830,NA11881,NA11894,NA11918,NA11920,NA11930,NA11931,NA11932,NA11933,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12058,NA12144,NA12156,NA12249,NA12272,NA12273,NA12275,NA12286,NA12341,NA12342,NA12347,NA12400,NA12413,NA12414,NA12489,NA12716,NA12717,NA12749,NA12750,NA12751,NA12761,NA12763,NA12775,NA12776,NA12778,NA12813,NA12828,NA12830,NA12878,NA12889,NA12890,NA12891,NA18542,NA18544,NA18564,NA18599,NA18609,NA18615,NA18618,NA18627,NA18853,NA18868,NA18873,NA18874,NA18924,NA19311,NA19316,NA19360,NA19372,NA19376,NA19379,NA19385,NA19391,NA19393,NA19398,NA19429,NA19463,NA19648,NA19651,NA19654,NA19660,NA19663,NA19664,NA19670,NA19675,NA19678,NA19679,NA19682,NA19684,NA19685,NA19701,NA19704,NA19719,NA19720,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19750,NA19756,NA19771,NA19774,NA19776,NA19783,NA19785,NA19786,NA19788,NA20126,NA20278,NA20296,NA20314,NA20332,NA20348,NA20502,NA20509,NA20512,NA20516,NA20519,NA20520,NA20530,NA20533,NA20536,NA20537,NA20540,NA20542,NA20582,NA20586,NA20588,NA20589,NA20753,NA20754,NA20759,NA20760,NA20766,NA20769,NA20770,NA20771,NA20774,NA20783,NA20792,NA20796,NA20797,NA20799,NA20800,NA20804,NA20807,NA20811,NA20813,NA20814,NA20815,NA20818,NA20826 nsv3045462 1 16151939 16155435 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14017962 M 2 0 1 "" NA12878 nsv5877682 1 16151940 16155438 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366368 M 914 0 1 "" nsv2800159 1 16151941 16152181 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13679336 M 2 0 1 "" nsv3320664 1 16151941 16152181 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14483022,nssv14488820,nssv14473713 M 14 0 3 "" CHM13,HG00514,NA12878 nsv5981545 1 16151943 16153233 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533768 M 405 0 1 "" nsv5580194 1 16151943 16155426 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061217 M 35 0 1 "" HG00732 nsv498663 1 16151943 16155433 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585393 M 9 0 1 "" nsv5981879 1 16151943 16155440 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524369 M 405 0 1 "" nsv1146753 1 16151949 16155444 CNV deletion John_et_al_2014 26484159 Sequencing nssv3995904 M 1 0 1 "" KWB1 nsv957836 1 16151954 16155390 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3004960 M 1 0 1 "" BILGI_BIOE nsv5828052 1 16152184 16155383 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460383 M 914 0 0 "" nsv2800893 1 16152197 16155440 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13683174 M 2 0 1 "" nsv3320665 1 16152197 16155440 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490933,nssv14481690,nssv14482671,nssv14484532,nssv14486689 M 14 0 5 "" CHM13,HG00268,HG00514,HG02106,NA12878 esv29597 1 16152274 16155502 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17422 M 40 0 12 "" NA06985,NA11894,NA11931,NA11993,NA12004,NA12156,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510 nsv513982 1 16152277 16153957 CNV loss Campbell_et_al_2011 21397061 Oligo aCGH nssv2850677,nssv2853836,nssv2850682,nssv2853855,nssv2850679,nssv2853909,nssv2850681,nssv2853883,nssv2853952,nssv2853829,nssv2850678,nssv2853926,nssv2853949,nssv2853893,nssv2853961,nssv2853870,nssv2853954,nssv2853857,nssv2853947,nssv2853871,nssv2853950,nssv2853920,nssv2853955,nssv2853925,nssv2853958,nssv2853879,nssv2853946,nssv2853858,nssv2853951,nssv2853869,nssv2853959,nssv2853932,nssv2850680,nssv2853845,nssv2853945,nssv2853830,nssv2850675,nssv2853884,nssv2853953,nssv2853888,nssv2853948,nssv2853863,nssv2853957,nssv2853923,nssv2853960,nssv2853853,nssv2853956,nssv2853885,nssv2850676,nssv2853896,nssv2853924,nssv2853833,nssv2853906,nssv2853862,nssv2853865,nssv2853905,nssv2853837,nssv2853889,nssv2853937,nssv2853878,nssv2853831,nssv2853843,nssv2853942,nssv2853929,nssv2853892,nssv2853916,nssv2853860,nssv2853886,nssv2853881,nssv2853839,nssv2853887,nssv2853919,nssv2853928,nssv2853854,nssv2853840,nssv2853902,nssv2853917,nssv2853847,nssv2853921,nssv2853903,nssv2853904,nssv2853918,nssv2853874,nssv2853931,nssv2853848,nssv2853915,nssv2853852,nssv2853913,nssv2853850,nssv2853939,nssv2853940,nssv2853907,nssv2853842,nssv2853910,nssv2853859,nssv2853832,nssv2853922,nssv2853866,nssv2853875,nssv2853867,nssv2853914,nssv2853895,nssv2853898,nssv2853927,nssv2853838,nssv2853846,nssv2853876,nssv2853873,nssv2853834,nssv2853835,nssv2853877,nssv2853890,nssv2853861,nssv2853899,nssv2853872,nssv2853941,nssv2853897,nssv2853933,nssv2853912,nssv2853908,nssv2853911,nssv2853944,nssv2853900,nssv2853935,nssv2853851,nssv2853943,nssv2853849,nssv2853901,nssv2853841,nssv2853880,nssv2853936,nssv2853934,nssv2853930,nssv2853938,nssv2853894,nssv2853856,nssv2853882,nssv2853844,nssv2853891,nssv2853868,nssv2853864 M 2366 0 141 "" NA06985,NA06986,NA06989,NA06991,NA07014,NA07019,NA07031,NA07034,NA07048,NA07056,NA07346,NA07348,NA07349,NA07357,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10850,NA10856,NA10857,NA10863,NA11829,NA11830,NA11832,NA11839,NA11840,NA11881,NA11882,NA11894,NA11918,NA11920,NA11930,NA11993,NA11994,NA11995,NA12004,NA12005,NA12043,NA12058,NA12144,NA12156,NA12234,NA12249,NA12272,NA12273,NA12274,NA12275,NA12286,NA12336,NA12343,NA12347,NA12400,NA12414,NA12485,NA12489,NA12708,NA12716,NA12717,NA12740,NA12749,NA12750,NA12751,NA12753,NA12760,NA12761,NA12763,NA12766,NA12775,NA12776,NA12778,NA12802,NA12813,NA12814,NA12815,NA12817,NA12828,NA12830,NA12832,NA12842,NA12843,NA12872,NA12877,NA12878,NA12889,NA12890,NA12891,NA18498,NA18509,NA18542,NA18564,NA18609,NA18853,NA18854,NA18868,NA18869,NA18873,NA18874,NA18875,NA18924,NA18925,NA19098,NA19123,NA19150,NA19151,NA19171,NA19175,NA19177,NA19181,NA19183,NA21301,NA21302,NA21303,NA21344,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21400,NA21401,NA21454,NA21475,NA21477,NA21478,NA21479,NA21480,NA21489,NA21522,NA21583,NA21717,NA21718 nsv545620 1 16152297 16154944 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710754,nssv710767,nssv710750,nssv710759,nssv710592,nssv710766,nssv710761,nssv710760,nssv710762,nssv710763,nssv710764,nssv710765,nssv710774,nssv710591,nssv710768,nssv710753,nssv710752,nssv710770,nssv710771,nssv710543,nssv710769,nssv710542,nssv710780,nssv710773,nssv710772,nssv710751,nssv710540,nssv710539,nssv710541,nssv710546,nssv710545,nssv710544,nssv710552,nssv710551,nssv710776,nssv710547,nssv710590,nssv710566,nssv710550,nssv710548,nssv710549,nssv710775,nssv710554,nssv710565,nssv710553,nssv710555,nssv710558,nssv710557,nssv710556,nssv710559,nssv710564,nssv710561,nssv710562,nssv710560,nssv710563,nssv710570,nssv710579,nssv710569,nssv710567,nssv710568,nssv710571,nssv710572,nssv710578,nssv710574,nssv710589,nssv710573,nssv710577,nssv710575,nssv710576,nssv710582,nssv710588,nssv710778,nssv710777,nssv710581,nssv710580,nssv710583,nssv710584,nssv710779,nssv710586,nssv710585,nssv710587,nssv710635,nssv710749,nssv710597,nssv710671,nssv710782,nssv710596,nssv710594,nssv710593,nssv710595,nssv710781,nssv710787,nssv710607,nssv710598,nssv710601,nssv710798,nssv710599,nssv710758,nssv710600,nssv710606,nssv710602,nssv710605,nssv710603,nssv710604,nssv710611,nssv710608,nssv710610,nssv710609,nssv710616,nssv710617,nssv710613,nssv710614,nssv710612,nssv710615,nssv710785,nssv710622,nssv710783,nssv710784,nssv710621,nssv710618,nssv710619,nssv710620,nssv710623,nssv710632,nssv710626,nssv710624,nssv710625,nssv710627,nssv710633,nssv710628,nssv710631,nssv710634,nssv710629,nssv710630,nssv710670,nssv710637,nssv710786,nssv710643,nssv710636,nssv710640,nssv710644,nssv710642,nssv710639,nssv710638,nssv710641,nssv710648,nssv710645,nssv710647,nssv710646,nssv710653,nssv710652,nssv710651,nssv710649,nssv710650,nssv710660,nssv710659,nssv710656,nssv710655,nssv710669,nssv710654,nssv710658,nssv710657,nssv710662,nssv710665,nssv710661,nssv710664,nssv710663,nssv710667,nssv710668,nssv710666,nssv710674,nssv710673,nssv710672,nssv710684,nssv710676,nssv710675,nssv710683,nssv710678,nssv710682,nssv710677,nssv710789,nssv710681,nssv710680,nssv710679,nssv710692,nssv710686,nssv710685,nssv710757,nssv710703,nssv710687,nssv710788,nssv710748,nssv710691,nssv710689,nssv710690,nssv710688,nssv710704,nssv710702,nssv710697,nssv710694,nssv710693,nssv710696,nssv710695,nssv710698,nssv710701,nssv710700,nssv710699,nssv710713,nssv710705,nssv710707,nssv710708,nssv710706,nssv710755,nssv710792,nssv710712,nssv710711,nssv710710,nssv710709,nssv710790,nssv710747,nssv710720,nssv710716,nssv710714,nssv710715,nssv710756,nssv710717,nssv710797,nssv710721,nssv710791,nssv710718,nssv710719,nssv710724,nssv710723,nssv710722,nssv710729,nssv710725,nssv710726,nssv710746,nssv710728,nssv710727,nssv710734,nssv710731,nssv710733,nssv710730,nssv710732,nssv710735,nssv710741,nssv710736,nssv710740,nssv710745,nssv710739,nssv710738,nssv710737,nssv710796,nssv710742,nssv710793,nssv710744,nssv710795,nssv710794,nssv710743 M 17421 0 260 "" nsv945789 1 16152390 16155191 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756110,nssv1756170,nssv1756194,nssv1756203,nssv1756119,nssv1756166,nssv1756118,nssv1756150,nssv1756112,nssv1756173,nssv1756111,nssv1756185,nssv1756135,nssv1756196,nssv1756188,nssv1756169,nssv1756120,nssv1756153,nssv1756127,nssv1756177,nssv1756186,nssv1756163,nssv1756190,nssv1756182,nssv1756114,nssv1756175,nssv1756139,nssv1756198,nssv1756193,nssv1756165,nssv1756128,nssv1756181,nssv1756145,nssv1756176,nssv1756142,nssv1756151,nssv1756125,nssv1756204,nssv1756134,nssv1756159,nssv1756109,nssv1756167,nssv1756141,nssv1756201,nssv1756138,nssv1756155,nssv1756132,nssv1756171,nssv1756121,nssv1756179,nssv1756187,nssv1756160,nssv1756123,nssv1756162,nssv1756137,nssv1756168,nssv1756124,nssv1756158,nssv1756144,nssv1756183,nssv1756117,nssv1756202,nssv1756129,nssv1756149,nssv1756122,nssv1756156,nssv1756189,nssv1756172,nssv1756116,nssv1756199,nssv1756130,nssv1756147,nssv1756126,nssv1756161,nssv1756143,nssv1756152,nssv1756133,nssv1756205,nssv1756192,nssv1756178,nssv1756131,nssv1756174,nssv1756191,nssv1756184,nssv1756146,nssv1756180,nssv1756115,nssv1756197,nssv1756140,nssv1756154,nssv1756195,nssv1756157,nssv1756113,nssv1756164,nssv1756136,nssv1756148,nssv1756200 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv152n54 1 16152400 16153885 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545621,nsv545622 M 17421 0 2 "" nsv1011969 1 16153485 16201540 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465593,nssv3467774 M 11257 1 1 FLJ37453,SPEN nsv1012917 1 16153485 16202022 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475320 M 11257 0 1 FLJ37453,SPEN esv2764241 1 16153497 16181645 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005028,essv7005027,essv7005024,essv7005026,essv7005030,essv7005023,essv7005029,essv7005025 M 1109 0 8 FLJ37453,SPEN RW_0028,RW_0058,RW_0098,RW_0131,RW_0136,RW_0273,RW_0325,RW_0570 dgv153n54 1 16153498 16154944 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545625,nsv545623 M 17421 0 3 "" dgv154n54 1 16153498 16161389 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545624,nsv545626 M 17421 0 2 FLJ37453 nsv6323046 1 16155803 16158176 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052754 M 19652 0 1 "" nsv4040850 1 16156000 16169000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963805 M 10847 1 0 FLJ37453 nsv3195923 1 16157933 16158708 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14343006,nssv14343005 M 9 0 2 "" HG00513,HG00514 nsv6326368 1 16158029 16167406 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052757 M 19652 0 1 FLJ37453 nsv4459166 1 16158254 16158255 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027124 M 10847 1 0 "" nsv5723482 1 16158810 16158810 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17248386 M 3202 1 0 "" nsv4537677 1 16158810 16158811 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027135 M 10847 1 0 "" nsv5725813 1 16158822 16158822 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17249848 M 3202 1 0 "" nsv5546454 1 16158822 16158873 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898541 M 3202 1 0 "" esv3662875 1 16160042 16160042 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485791 M 20 1 0 "" nsv6050950 1 16160737 16160737 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530856 M 405 1 0 FLJ37453 nsv5717808 1 16162232 16162232 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236647 M 3202 1 0 FLJ37453 nsv5561125 1 16162232 16162283 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898544 M 3202 1 0 FLJ37453 nsv5423506 1 16165099 16166499 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898545 M 3202 0 1 FLJ37453 dgv38n100 1 16165661 16250533 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011695,nsv1004140 M 11257 2 0 FLJ37453,SPEN nsv6540446 1 16165909 16166313 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247776 M 19652 0 0 FLJ37453 nsv6535922 1 16169083 16169833 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247777 M 19652 0 0 FLJ37453 nsv6549253 1 16171058 16172188 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247778 M 19652 0 0 FLJ37453 nsv6323519 1 16171896 16175995 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200948 M 19652 1 0 FLJ37453,SPEN nsv4039552 1 16180716 16187229 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848159 M 10847 0 1 SPEN nsv6333590 1 16180716 16187229 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053054 M 19652 0 1 SPEN nsv6327186 1 16182096 16183995 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053057 M 19652 0 1 SPEN nsv6550116 1 16182228 16182771 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247780 M 19652 0 0 SPEN nsv4032609 1 16182475 16182530 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848166 M 10847 0 1 SPEN nsv5424101 1 16182475 16182530 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898546 M 3202 0 1 SPEN nsv6326893 1 16182778 16187841 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053059 M 19652 0 1 SPEN nsv6256239 1 16185651 16185651 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858541 M 1021 1 0 SPEN esv3585322 1 16185814 16193131 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9864701,essv9864703,essv9864700,essv9864702,essv9864699,essv9864704,essv9864698,essv9864705 M 2504 0 8 SPEN HG00654,HG00674,HG01028,HG02410,NA18531,NA18537,NA18552,NA18641 esv2668319 1 16185829 16193008 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6530617,essv6100111 M 1151 0 2 SPEN HG00654,NA18534 nsv5981476 1 16185866 16187104 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523933 M 405 0 1 SPEN nsv5570014 1 16185892 16192887 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061228 M 35 0 1 SPEN NA18534 nsv5873275 1 16185892 16192887 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356288 M 914 0 1 SPEN esv2744352 1 16185907 16193059 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6801154,essv6731930,essv6761854 M 96 0 3 SPEN SSM001,SSM002,SSM062 nsv6138581 1 16185908 16192918 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898547 M 3202 0 1 SPEN nsv4049425 1 16185919 16192888 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848000 M 10847 0 1 SPEN nsv829559 1 16185986 16192955 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1439448,nssv1428817,nssv1422361 M 31 0 3 SPEN AK12,NA18537,NA18552 nsv5981548 1 16186152 16192841 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527533 M 405 0 1 SPEN esv2665696 1 16186430 16187131 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6542681,essv5956490,essv5926085,essv5447900 M 1151 0 4 SPEN HG00525,HG00531,HG00654,NA19009 nsv5828257 1 16186430 16192909 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469139 M 914 0 0 SPEN nsv5870986 1 16186536 16187050 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359431 M 914 0 1 SPEN nsv5981477 1 16186536 16187051 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527325 M 405 0 1 SPEN nsv5414139 1 16186540 16187051 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898549 M 3202 0 1 SPEN nsv4731037 1 16186546 16187062 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16287381 M 25 0 1 SPEN nsv4518199 1 16186550 16187051 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848009 M 10847 0 1 SPEN nsv4040869 1 16188940 16189003 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848019 M 10847 0 1 SPEN nsv5432873 1 16188940 16189003 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898550 M 3202 0 1 SPEN nsv5420269 1 16191714 16192087 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898551 M 3202 0 1 SPEN nsv4035662 1 16194676 16196035 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848029 M 10847 0 1 SPEN nsv5415142 1 16196110 16196214 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898552 M 3202 1 0 SPEN nsv6549895 1 16205303 16206227 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247785 M 19652 0 0 SPEN esv3674442 1 16205545 16205630 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496201 M 20 0 0 SPEN nsv6316224 1 16206452 16210510 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053460 M 19652 0 1 SPEN esv22591 1 16210276 16213462 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17906 M 40 1 0 SPEN NA12287 nsv6328951 1 16210337 16213506 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200956 M 19652 1 0 SPEN nsv5433161 1 16210337 16213534 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898553 M 3202 1 0 SPEN nsv1133814 1 16213957 16214036 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969385 M 2 0 1 SPEN KWS2 nsv3194762 1 16222192 16222710 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14344211 M 9 0 1 SPEN NA19239 nsv6317356 1 16226776 16228044 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053486 M 19652 0 1 SPEN nsv6551256 1 16228061 16228424 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247786 M 19652 0 0 SPEN nsv3200407 1 16230719 16231239 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14344051 M 9 0 1 SPEN NA19239 nsv6550457 1 16231160 16231401 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247787 M 19652 0 0 SPEN nsv6537069 1 16233117 16233815 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247788 M 19652 0 0 SPEN nsv4037948 1 16241794 16241877 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848593 M 10847 0 1 SPEN nsv508936 1 16242347 16507520 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619774,nssv619775 M 4 1 0 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,SPEN,ZBTB17 NA10860 nsv6539337 1 16243090 16243559 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247791 M 19652 0 0 SPEN nsv4459046 1 16249567 16249568 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027705 M 10847 1 0 SPEN nsv5544157 1 16252964 16252967 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898555 M 3202 1 0 SPEN nsv478397 1 16254922 16254922 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012377 M 9 1 0 SPEN NA18507 nsv954843 1 16257801 16279700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003129 M 1 0 1 SPEN,ZBTB17 BILGI_BIOE nsv4040334 1 16275439 16275556 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848603 M 10847 0 1 ZBTB17 nsv4050494 1 16278938 16279644 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848613 M 10847 0 1 ZBTB17 nsv6054101 1 16283895 16283895 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524072 M 405 1 0 ZBTB17 nsv833758 1 16295523 16467014 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1443007,nssv1443018 M 95 1 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7,ZBTB17 esv3665236 1 16297888 16298002 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16487916 M 20 0 0 ZBTB17 nsv5424792 1 16300213 16300273 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898353 M 3202 1 0 ZBTB17 nsv4537070 1 16300849 16300850 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027715 M 10847 1 0 ZBTB17 esv3662981 1 16307203 16307203 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485887 M 20 1 0 "" esv3585323 1 16309317 16311379 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9864706 M 2504 0 1 "" HG02614 nsv4032974 1 16309331 16311406 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848622 M 10847 0 1 "" nsv5414641 1 16309331 16311406 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898355 M 3202 0 1 "" nsv4319008 1 16310812 16515615 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789037 M 10847 0 0 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 nsv5423130 1 16311877 16330092 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898356 M 3202 1 0 "" esv3585324 1 16311970 16330082 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9864707 M 2504 1 0 "" HG03792 nsv1076159 1 16312029 16312083 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769794 M 1 0 1 "" KWP1 nsv1133815 1 16312030 16312083 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969386 M 2 0 1 "" KWS2 nsv6331569 1 16315919 16317763 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052428 M 19652 0 1 "" nsv4048250 1 16318841 16335303 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848631 M 10847 0 1 C1orf64 nsv6330754 1 16318841 16335303 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052432 M 19652 0 1 C1orf64 nsv4041678 1 16320806 16325617 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848641 M 10847 0 1 "" nsv997887 1 16321010 16441703 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3698789 M 11257 1 0 C1orf64,CLCNKA,CLCNKB,FAM131C,HSPB7 nsv4032771 1 16322731 16327842 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848648 M 10847 0 1 "" nsv5418237 1 16323946 16326021 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898357 M 3202 0 1 "" nsv3212860 1 16324827 16329957 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261491,nssv14261489,nssv14261490 M 9 3 0 "" HG00731,NA19238,NA19240 nsv545627 1 16327422 16374330 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710806 M 17421 0 1 C1orf64,CLCNKA,CLCNKB,HSPB7 nsv3532426 1 16329336 16329336 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388636,nssv14380092 M 9 1 0 "" NA19240 nsv3561415 1 16329336 16329336 CNV sva insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14342846,nssv14343464,nssv14342847 M 9 3 0 "" HG00731,NA19238,NA19240 nsv5612732 1 16329336 16329336 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061016 M 35 1 0 "" HG00731 nsv5955219 1 16329336 16329336 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17365927 M 914 1 0 "" nsv4533047 1 16329336 16329337 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027725 M 10847 1 0 "" nsv3320248 1 16329337 16329337 CNV sva insertion Audano_et_al_2019 30661756 Sequencing nssv14473030 M 14 1 0 "" NA12878 nsv5718321 1 16329351 16329351 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17244832 M 3202 1 0 "" nsv5562795 1 16329351 16329387 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898359 M 3202 1 0 "" nsv6330256 1 16329634 16331208 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052440 M 19652 0 1 C1orf64 nsv6320785 1 16330942 16335020 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052441 M 19652 0 1 C1orf64 nsv517651 1 16331909 16380582 CNV gain+loss Shaikh_et_al_2009 19592680 SNP array nssv687387,nssv653562,nssv673550,nssv688461,nssv656190,nssv673015,nssv655929,nssv701339,nssv687919,nssv674672,nssv692440,nssv680689,nssv698988,nssv675618,nssv664812,nssv653845,nssv654197,nssv672518,nssv685627,nssv673768,nssv656487,nssv692238,nssv678289,nssv669108,nssv661818,nssv669916,nssv667590,nssv669004,nssv664299,nssv674326,nssv683268,nssv670058,nssv663351,nssv666809,nssv680788,nssv701973,nssv700288,nssv683426,nssv659185,nssv668525,nssv674154 M 2026 5 36 C1orf64,CLCNKA,CLCNKB,HSPB7 nsv520148 1 16331909 16466003 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697249 M 2026 0 1 C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 nsv524045 1 16331909 16552772 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699909 M 2026 0 1 ARHGEF19,C1orf64,CLCNKA,CLCNKB,EPHA2,FAM131C,HSPB7 nsv6316679 1 16333063 16335033 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052442 M 19652 0 1 C1orf64 nsv954844 1 16340101 16404400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003130 M 1 0 1 CLCNKA,CLCNKB,FAM131C,HSPB7 BILGI_BIOE dgv12n27 1 16340460 16368403 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460605,nsv460618 M 1557 0 2 CLCNKA,HSPB7 HGDP00525,HGDP00971 nsv545628 1 16340460 16368403 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710807,nssv1173779,nssv1173778 M 17421 1 2 CLCNKA,HSPB7 HGDP00525,HGDP00971 nsv460629 1 16340460 16380582 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537170 M 1557 1 0 CLCNKA,CLCNKB,HSPB7 HGDP01090 dgv155n54 1 16340460 16393357 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545633,nsv545629 M 17421 2 0 CLCNKA,CLCNKB,FAM131C,HSPB7 HGDP00923,HGDP01090 nsv470698 1 16340460 16396806 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547710 M 443 0 1 CLCNKA,CLCNKB,FAM131C,HSPB7 HGDP00661 nsv3113618 1 16341388 16380955 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14096558 M 467 0 1 CLCNKA,CLCNKB,HSPB7 sample363 esv2760188 1 16344664 16390402 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv6996744,essv6996300,essv6996522,essv6996633,essv6996411 M 1109 4 1 CLCNKA,CLCNKB,FAM131C,HSPB7 SW_0061,SW_0086,SW_0786,SW_1282,SW_1480 nsv1161228 1 16345255 16389566 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4029640 M 369 1 0 CLCNKA,CLCNKB,FAM131C,HSPB7 dgv13n27 1 16346457 16376831 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460651,nsv460640 M 1557 2 0 CLCNKA,CLCNKB HGDP00906,HGDP00941 dgv156n54 1 16346457 16376831 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545632,nsv545631,nsv545630 M 17421 3 0 CLCNKA,CLCNKB HGDP00906,HGDP00934,HGDP00941 dgv10e214 1 16346751 16367787 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585326,esv3585327 M 2504 108 0 CLCNKA HG01063,HG01108,HG01170,HG01885,HG01986,HG02012,HG02090,HG02283,HG02318,HG02419,HG02433,HG02450,HG02455,HG02496,HG02537,HG02549,HG02555,HG02573,HG02623,HG02646,HG02667,HG02756,HG02757,HG02769,HG02807,HG02811,HG02861,HG02878,HG02884,HG02896,HG02923,HG02938,HG02976,HG02977,HG02982,HG03028,HG03066,HG03073,HG03086,HG03096,HG03097,HG03108,HG03109,HG03132,HG03136,HG03159,HG03160,HG03166,HG03189,HG03198,HG03240,HG03300,HG03301,HG03311,HG03352,HG03366,HG03370,HG03385,HG03394,HG03472,HG03518,HG03521,HG03547,HG03548,HG03563,HG03567,HG03575,NA18489,NA18504,NA18508,NA18858,NA18867,NA18876,NA18909,NA18912,NA18915,NA19023,NA19035,NA19093,NA19108,NA19121,NA19130,NA19143,NA19152,NA19159,NA19172,NA19209,NA19213,NA19247,NA19310,NA19338,NA19346,NA19347,NA19401,NA19428,NA19429,NA19436,NA19449,NA19454,NA19456,NA19473,NA19625,NA19712,NA19901,NA19920,NA20126,NA20291,NA20321 nsv6137991 1 16346879 16369495 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896482 M 3202 1 0 CLCNKA esv25815 1 16346942 16390883 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv17676,esv10646 M 40 8 0 CLCNKA,CLCNKB,FAM131C NA12156,NA12489,NA12828,NA18508,NA18858,NA18861,NA18909,NA19108 esv2744364 1 16347137 16379230 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6874704,essv6675200,essv6871712,essv6784587,essv6892318,essv6937678,essv6883255,essv6725849,essv6895847,essv6764160,essv6906099,essv6729616,essv6748353,essv6828997,essv6784992,essv6801265,essv6710580,essv6828996,essv6780870,essv6816581,essv6821181,essv6836190,essv6718163,essv6836189,essv6824981,essv6925688,essv6743041,essv6914000,essv6843854,essv6946495,essv6967923,essv6747777,essv6972343,essv6961550,essv6950552,essv6950550,essv6718865,essv6718876,essv6714244,essv6917425,essv6754152,essv6839969,essv6793283,essv6669221,essv6921717,essv6769514,essv6750599,essv6910042,essv6917424,essv6756548,essv6776935 M 96 0 45 CLCNKA,CLCNKB SSM001,SSM002,SSM005,SSM007,SSM008,SSM009,SSM011,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM022,SSM024,SSM025,SSM027,SSM028,SSM029,SSM032,SSM042,SSM043,SSM044,SSM046,SSM047,SSM056,SSM057,SSM059,SSM063,SSM065,SSM067,SSM068,SSM069,SSM071,SSM078,SSM079,SSM080,SSM081,SSM083,SSM084,SSM091,SSM092,SSM095,SSM098,SSM099 nsv5828174 1 16347247 16359696 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461341 M 914 0 0 CLCNKA nsv6334897 1 16347296 16349895 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200975 M 19652 1 0 CLCNKA nsv6323996 1 16347396 16354395 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200976 M 19652 1 0 CLCNKA nsv6322864 1 16347696 16351295 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200977 M 19652 1 0 CLCNKA dgv2n64 1 16348412 16368324 CNV gain Wang_et_al_2007 17921354 SNP array nsv818078,nsv818067 M 112 5 0 CLCNKA NA19143,NA19172,NA19173,NA19193,NA19194 nsv6332480 1 16348896 16360095 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200978 M 19652 1 0 CLCNKA nsv473735 1 16349254 16349254 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012638 M 9 1 0 CLCNKA NA19129 esv8597 1 16349712 16371897 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31038 M 1 0 0 CLCNKA,CLCNKB nsv4034698 1 16351000 16373000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848659 M 10847 0 1 CLCNKA,CLCNKB nsv4049821 1 16351255 16351311 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848667 M 10847 0 1 CLCNKA nsv6256250 1 16352828 16352828 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858542 M 1021 1 0 CLCNKA nsv5427283 1 16353112 16375022 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896483 M 3202 0 1 CLCNKA,CLCNKB esv2674711 1 16354481 16376278 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5945246,essv6073654,essv5449000,essv6534826 M 1151 0 4 CLCNKA,CLCNKB HG00159,NA18557,NA18596,NA20533 nsv6331075 1 16355522 16366111 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052449 M 19652 0 1 CLCNKA esv2665318 1 16357445 16362492 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6300428,essv6096342,essv5429090,essv5994393,essv5422545,essv5738567,essv6577191,essv5524902,essv5937904,essv5986462,essv5970021,essv6510317,essv6116357,essv6458525,essv6514405,essv5778558,essv6139055,essv5484840,essv6444250,essv5893680,essv5907875,essv6423982,essv6035088,essv6260115,essv5620482,essv5620722,essv5868906,essv6137777,essv5959997,essv5595661,essv6126669,essv5477532,essv6357323,essv5957745,essv5721884,essv6443514,essv5728168,essv5548759,essv6155862,essv5721139,essv6274071,essv5813713,essv5671555,essv5689713,essv6565313,essv5832972,essv5957852,essv6079824,essv5800906,essv6112083,essv6282724,essv5761570,essv6340268,essv6292749,essv6378765,essv6564723,essv6065374,essv5483132,essv5907250,essv5559776,essv6206665,essv6264913,essv6048525 M 1151 0 63 CLCNKA HG00404,HG00418,HG00427,HG00428,HG00436,HG00442,HG00448,HG00449,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00533,HG00542,HG00543,HG00556,HG00557,HG00559,HG00560,HG00565,HG00566,HG00578,HG00580,HG00581,HG00583,HG00584,HG00590,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00619,HG00620,HG00626,HG00628,HG00629,HG00634,HG00635,HG00654,HG00657,HG00662,HG00663,HG00672,HG00684,HG00689,HG00690,HG00692,HG00698,HG00699,HG00701,HG00704,HG00708 esv3585328 1 16358741 16372849 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9864869,essv9864868,essv9864867 M 2504 0 3 CLCNKA,CLCNKB NA18573,NA19003,NA19471 nsv5867713 1 16358743 16372843 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366781 M 914 0 1 CLCNKA,CLCNKB nsv4731176 1 16358743 16372844 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16296101 M 25 0 1 CLCNKA,CLCNKB nsv829570 1 16359361 16403632 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426375 M 31 1 0 CLCNKA,CLCNKB,FAM131C AK6 nsv545634 1 16360279 16387513 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710808 M 17421 1 0 CLCNKA,CLCNKB,FAM131C nsv545635 1 16360487 16360881 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710834,nssv710814,nssv710831,nssv710830,nssv710809,nssv710833,nssv710832,nssv710811,nssv710812,nssv710813,nssv710810,nssv710815,nssv710818,nssv710836,nssv710829,nssv710817,nssv710835,nssv710816,nssv710819,nssv710828,nssv710823,nssv710822,nssv710821,nssv710820,nssv710824,nssv710837,nssv710826,nssv710827,nssv710825 M 17421 0 29 CLCNKA nsv545636 1 16360706 16360881 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710838 M 17421 0 1 "" nsv4743812 1 16360957 16384219 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16290914 M 25 0 1 CLCNKB esv2434454 1 16361125 16385507 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5273432 M 1 0 1 CLCNKB,FAM131C NA18507 esv3665284 1 16361319 16361395 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16487960 M 20 0 0 "" nsv511678 1 16361428 16384130 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626316 M 1 0 1 CLCNKB 1 nsv4051038 1 16361500 16384000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848678 M 10847 0 1 CLCNKB esv995840 1 16362090 16385344 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3574114 M 3 0 1 CLCNKB,FAM131C HuRef dgv94n223 1 16362296 16388807 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6327556,nsv6316327 M 19652 2 0 CLCNKB,FAM131C nsv6138226 1 16362495 16388879 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896484 M 3202 1 0 CLCNKB,FAM131C dgv9e201 1 16362564 16389155 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2742460,esv2742397,esv2742425,esv2742424,esv2740827,esv2742283,esv2742462,esv2742343,esv2742478,esv2741927,esv2742477,esv2742487,esv2742086,esv2742488,esv2742008,esv2742502,esv2742525,esv2741630,esv2741629,esv2742027,esv2742579,esv2742578,esv2741665,esv2742603,esv2741739,esv2742215,esv2741741,esv2742030,esv2742214,esv2742676,esv2742677,esv2740758,esv2742704,esv2740828,esv2742742,esv2742741,esv2742398,esv2742186,esv2742344,esv2742282,esv2741855,esv2740760,esv2741822,esv2741950,esv2742785,esv2742786,esv2740810,esv2742158,esv2740915,esv2742087,esv2742822,esv2742828,esv2741854,esv2742830,esv2742867,esv2740950,esv2742050,esv2742868,esv2744375,esv2742913,esv2742947,esv2742049,esv2741777,esv2741778,esv2740964,esv2740981,esv2742988,esv2742987,esv2743035,esv2742308,esv2741083,esv2741082,esv2743060,esv2742048,esv2741126,esv2742285,esv2742120,esv2741168,esv2741171,esv2743116,esv2741204,esv2741203,esv2743160,esv2743158,esv2743159,esv2743157,esv2741275,esv2741302,esv2741348,esv2741349,esv2743253,esv2741410,esv2741427,esv2741432,esv2741456,esv2740860,esv2741507,esv2743310,esv2741532,esv2742378,esv2741533,esv2743311,esv2741557,esv2741556,esv2740952,esv2741582,esv2741581,esv2741590,esv2741605 M 96 0 84 CLCNKB,FAM131C SSM001,SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM030,SSM031,SSM032,SSM033,SSM034,SSM036,SSM037,SSM038,SSM042,SSM043,SSM044,SSM045,SSM047,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM057,SSM059,SSM061,SSM062,SSM063,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM074,SSM076,SSM077,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM097,SSM098,SSM100 dgv1e19 1 16363001 16389311 CNV loss Ahn_et_al_2009 19470904 Sequencing esv5593,esv5890 M 1 0 0 CLCNKB,FAM131C nsv436443 1 16363261 16384355 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv466694 M 2 0 1 CLCNKB,FAM131C NA18505 nsv5828175 1 16363711 16365678 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460560,nssv17457483 M 914 0 0 "" dgv20e199 1 16363781 16389166 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2677387,esv2667784,esv2675551,esv2657098 M 1151 0 106 CLCNKB,FAM131C HG00100,HG00103,HG00149,HG00151,HG00171,HG00173,HG00174,HG00188,HG00265,HG00311,HG00326,HG00367,HG00377,HG00443,HG00531,HG00542,HG00565,HG00566,HG00590,HG00595,HG00611,HG00613,HG00620,HG00650,HG00656,HG00671,HG00732,HG00740,HG01066,HG01112,HG01136,HG01168,HG01250,HG01254,HG01390,HG01455,HG01456,HG01465,HG01488,HG01494,HG01518,HG01519,HG01521,NA11831,NA11832,NA18488,NA18550,NA18561,NA18567,NA18573,NA18574,NA18582,NA18614,NA18619,NA18620,NA18623,NA18625,NA18637,NA18940,NA18960,NA18963,NA18964,NA18977,NA18988,NA19002,NA19004,NA19010,NA19058,NA19064,NA19070,NA19072,NA19074,NA19078,NA19082,NA19083,NA19084,NA19235,NA19248,NA19360,NA19660,NA19661,NA19747,NA19758,NA19774,NA19779,NA19782,NA19783,NA19786,NA19819,NA20278,NA20289,NA20314,NA20334,NA20344,NA20348,NA20518,NA20522,NA20533,NA20760,NA20761,NA20770,NA20804,NA20807,NA20809,NA20818,NA20828 dgv27n209 1 16363793 16389162 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5878588,nsv5872444 M 914 0 2 CLCNKB,FAM131C dgv95n223 1 16363798 16389166 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6334929,nsv6326548 M 19652 0 2 CLCNKB,FAM131C dgv157n54 1 16363925 16385768 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545637,nsv545639 M 17421 2 0 CLCNKB,FAM131C esv2764186 1 16363940 16379416 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005031,essv7005034,essv7005035,essv7005032 M 1109 2 2 CLCNKB RW_0158,RW_0213,RW_0578,RW_0623 nsv1156228 1 16363940 16379416 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4019137 M 131 1 0 CLCNKB nsv1156242 1 16363940 16389566 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4019148 M 131 1 0 CLCNKB,FAM131C esv32650 1 16364027 16389792 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv93058,essv97715,essv95958 M 51 3 0 CLCNKB,FAM131C 21863,22127,22278 dgv28n209 1 16364579 16371254 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5828264,nsv5828176 M 914 0 0 CLCNKB esv3662992 1 16366292 16366292 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485897 M 20 1 0 "" nsv6324380 1 16367296 16369095 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200982 M 19652 1 0 "" nsv441684 1 16368131 16379331 CNV gain McCarroll_et_al_2008 18776908 SNP array nssv1656597,nssv1656598,nssv1656599,nssv1656596 M 270 4 0 CLCNKB NA10846,NA12144,NA18508,NA19159 esv3892192 1 16368324 16380582 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25778320,essv25799687 M 3017 0 2 CLCNKB nsv545638 1 16368324 16380815 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710840 M 17421 1 0 CLCNKB nsv5828058 1 16369457 16383692 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17449827,nssv17463526 M 914 0 0 CLCNKB esv3585329 1 16370620 16381653 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9864870 M 2504 0 1 CLCNKB HG00329 esv3585330 1 16370620 16381653 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9864910,essv9864876,essv9864911,essv9864872,essv9864909,essv9864873,essv9864905,essv9864895,essv9864871,essv9864907,essv9864896,essv9864874,essv9864901,essv9864897,essv9864875,essv9864906,essv9864898,essv9864908,essv9864894,essv9864902,essv9864915,essv9864903,essv9864916,essv9864900,essv9864917,essv9864899,essv9864914,essv9864904,essv9864919,essv9864893,essv9864918,essv9864892,essv9864912,essv9864891,essv9864913,essv9864890,essv9864881,essv9864885,essv9864877,essv9864889,essv9864882,essv9864888,essv9864880,essv9864887,essv9864884,essv9864886,essv9864879,essv9864883,essv9864878 M 2504 49 0 CLCNKB HG00133,HG00154,HG00285,HG00318,HG00323,HG00328,HG00534,HG01049,HG01054,HG01069,HG01131,HG01280,HG01284,HG01431,HG01444,HG01479,HG01524,HG01566,HG01623,HG01631,HG01710,HG01771,HG02095,HG02494,HG02687,HG02811,HG02891,HG03006,HG03625,HG03692,HG03705,HG03727,HG03773,HG04063,HG04144,NA11932,NA12144,NA12489,NA12815,NA18573,NA19003,NA19984,NA20535,NA20804,NA20832,NA20906,NA21104,NA21109,NA21123 nsv6324445 1 16372796 16389495 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200983 M 19652 1 0 CLCNKB,FAM131C esv6377 1 16376267 16386339 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28818 M 1 0 0 CLCNKB,FAM131C nsv1114931 1 16376467 16386256 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975228 M 2 0 1 CLCNKB,FAM131C KWS1 nsv4755111 1 16376516 16376516 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288640 M 25 1 0 CLCNKB esv2672024 1 16376516 16386257 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5725607,essv6430086,essv5543906,essv6528095,essv5882752,essv5795038,essv6192930,essv5506546,essv6590246,essv6294008,essv5586249,essv6024964,essv6225479,essv6159718,essv5708728,essv6552675,essv5653009,essv6319461,essv6203399,essv5498358,essv6143236,essv6512664,essv5775668,essv6091489,essv5494124,essv6170837,essv6215867,essv6510333,essv6473131,essv5421071,essv6303815,essv5578112,essv5697412,essv5581282,essv6310035,essv5793220,essv6499853,essv5668780,essv5857865,essv5910472,essv5658413,essv5904448,essv6417678,essv5647478,essv5416876,essv5868719,essv5956397,essv6004070,essv5858629,essv5456993,essv5720498,essv5568392,essv6406274,essv5723037,essv5947711,essv6455941,essv5414192,essv5649772,essv5664202,essv6329539,essv6311138,essv5820488,essv6526622,essv6003113,essv5988552,essv6318323,essv6465427,essv5479995,essv6320475,essv5738637,essv5468519,essv5485270,essv5949634,essv6155819,essv5950603,essv6355273,essv6556176,essv5570627,essv6086404,essv5880159,essv6514107,essv5509924,essv6206305,essv5460695,essv5996592,essv5543186,essv6058914,essv6078023,essv5633393,essv5843872,essv6578329,essv6250085,essv6282654,essv5861237,essv6408607,essv5666832,essv6025595,essv6375733,essv5988070,essv6566576,essv6089675,essv5531874,essv5804802,essv6247239,essv5779194,essv6444703,essv5727877,essv5732786,essv5880309,essv5726526,essv5994980,essv6543773,essv6425458,essv5955756,essv5918552,essv6529133,essv5408661,essv6535746,essv5992121,essv5563176,essv6597076,essv6021311,essv5846842,essv5937119,essv6272791,essv6295563,essv6364016,essv5592664,essv6313064,essv5522656,essv6109863,essv6060239,essv6385341,essv6214660,essv6076160,essv6243403,essv5550252,essv6563180,essv6402376,essv5888412,essv5866483,essv6563042,essv6466036,essv6001397,essv5609847,essv6334335,essv5528176,essv6217185,essv5895599,essv6172582,essv5797166,essv5687736 M 1151 0 152 CLCNKB,FAM131C HG00120,HG00133,HG00146,HG00157,HG00233,HG00565,HG01097,HG01113,HG01254,HG01356,HG01383,HG01440,HG01515,HG01516,HG01518,HG01550,HG01551,NA06985,NA06986,NA07037,NA07051,NA07056,NA10851,NA11892,NA11918,NA11920,NA11933,NA11995,NA12155,NA12273,NA12286,NA12287,NA12340,NA12347,NA12348,NA12383,NA12413,NA12489,NA12716,NA12717,NA12748,NA12761,NA12777,NA12778,NA12827,NA12829,NA12830,NA12842,NA18488,NA18502,NA18542,NA18547,NA18552,NA18562,NA18564,NA18572,NA18574,NA18576,NA18592,NA18609,NA18637,NA18916,NA18947,NA18948,NA18959,NA18964,NA18980,NA18983,NA18985,NA18999,NA19004,NA19005,NA19007,NA19054,NA19055,NA19060,NA19063,NA19065,NA19066,NA19070,NA19074,NA19083,NA19087,NA19093,NA19172,NA19189,NA19256,NA19373,NA19393,NA19404,NA19445,NA19453,NA19648,NA19654,NA19655,NA19679,NA19726,NA19728,NA19731,NA19747,NA19750,NA19758,NA19774,NA19776,NA19777,NA19780,NA19782,NA19785,NA19835,NA20127,NA20291,NA20296,NA20299,NA20314,NA20344,NA20505,NA20506,NA20509,NA20512,NA20517,NA20518,NA20527,NA20528,NA20529,NA20530,NA20533,NA20534,NA20538,NA20541,NA20543,NA20752,NA20755,NA20758,NA20759,NA20760,NA20761,NA20766,NA20769,NA20770,NA20771,NA20772,NA20787,NA20792,NA20796,NA20804,NA20808,NA20810,NA20811,NA20813,NA20814,NA20818,NA20828 esv1006289 1 16376517 16376517 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3572231 M 3 1 0 CLCNKB HuRef esv1779187 1 16376518 16376518 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3873209 M 2 1 0 CLCNKB HuRef esv3663003 1 16376518 16376518 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485906 M 20 1 0 CLCNKB nsv3928690 1 16376518 16376518 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191257 M 1 1 0 CLCNKB HG002 nsv5556728 1 16376518 16376518 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896485 M 3202 0 0 CLCNKB nsv5624041 1 16376518 16376518 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061024 M 35 1 0 CLCNKB HG00731 nsv5967286 1 16376518 16376518 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366406 M 914 1 0 CLCNKB nsv6058882 1 16376518 16376518 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520874 M 405 1 0 CLCNKB nsv4533712 1 16376518 16376519 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027735 M 10847 1 0 CLCNKB dgv118n152 1 16376518 16376597 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3176503,nsv3180861 M 9 0 0 CLCNKB HG00514,HG00733 nsv3557933 1 16376518 16386334 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14345121,nssv14345117,nssv14345118,nssv14345119,nssv14345120,nssv14345122,nssv14345116 M 9 0 0 CLCNKB,FAM131C HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19239 nsv2800160 1 16376519 16376519 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13697014 M 2 1 0 CLCNKB nsv3056764 1 16376519 16376519 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14030699 M 2 1 0 CLCNKB CHM1 nsv3320024 1 16376519 16376519 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475917,nssv14485502,nssv14487474,nssv14486785,nssv14482663,nssv14487245,nssv14486025,nssv14482911,nssv14484618,nssv14476024,nssv14485873 M 14 11 0 CLCNKB CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1,NA19434 nsv1116588 1 16376519 16386339 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3993560,nssv3987946 M 2 2 0 CLCNKB,FAM131C KWS1,KWS2 esv2744386 1 16376737 16386222 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6877666,essv6906101,essv6937680,essv6941783,essv6776937,essv6946498,essv6692764,essv6696989,essv6921722 M 96 0 9 CLCNKB,FAM131C SSM014,SSM018,SSM022,SSM023,SSM024,SSM037,SSM038,SSM067,SSM093 nsv4034081 1 16376756 16378641 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848689 M 10847 0 1 CLCNKB nsv545640 1 16376831 16387573 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710842 M 17421 1 0 CLCNKB,FAM131C esv3663012 1 16379562 16379562 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485914 M 20 1 0 CLCNKB nsv4532892 1 16383422 16383423 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026936 M 10847 1 0 CLCNKB esv3448687 1 16383665 16385263 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692007 M 185 1 0 CLCNKB,FAM131C NA19239 nsv6324094 1 16383696 16384495 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200984 M 19652 1 0 CLCNKB,FAM131C nsv1118430 1 16383700 16385000 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958936 M 2 1 0 CLCNKB,FAM131C KWS1 nsv1075223 1 16386099 16389100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768943 M 1 0 1 FAM131C KWP1 nsv6329558 1 16386696 16388195 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200985 M 19652 1 0 FAM131C nsv5828059 1 16386893 16388471 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467356,nssv17452663,nssv17453845 M 914 0 0 FAM131C esv3665322 1 16388432 16388581 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16487994 M 20 0 0 FAM131C nsv4048996 1 16401792 16406475 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848696 M 10847 0 1 "" nsv5970424 1 16407682 16408898 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17350154 M 914 0 0 "" nsv4766429 1 16407684 16407684 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16272842 M 25 1 0 "" nsv4561055 1 16407684 16408899 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789046 M 10847 0 0 "" nsv5554700 1 16407684 16408899 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896489 M 3202 0 0 "" nsv5552087 1 16407685 16407685 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896490 M 3202 1 0 "" nsv5622499 1 16407685 16407685 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061032 M 35 1 0 "" NA19239 nsv6057612 1 16407685 16407685 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525582 M 405 1 0 "" nsv3182634 1 16407685 16407819 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374751 M 9 0 0 "" NA19240 nsv6540184 1 16407686 16408763 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247332 M 19652 0 0 "" nsv3558703 1 16408763 16408899 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14344650,nssv14344651 M 9 0 0 "" NA19239,NA19240 nsv5539350 1 16410500 16410536 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896492 M 3202 1 0 "" nsv6332036 1 16411494 16423161 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052474 M 19652 0 1 "" nsv6325511 1 16413133 16416677 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052475 M 19652 0 1 "" dgv96n223 1 16415093 16416097 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6536251,nsv6549550 M 19652 0 0 "" nsv5557458 1 16415205 16416096 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896493 M 3202 0 0 "" nsv3558345 1 16415255 16416094 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14345853,nssv14345855,nssv14345854,nssv14345856 M 9 0 0 "" HG00731,NA19238,NA19239,NA19240 nsv1116485 1 16415316 16416091 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3978666 M 2 0 0 "" KWS2 nsv4761992 1 16416090 16416090 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16268371 M 25 1 0 "" nsv5604796 1 16416094 16416094 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061229 M 35 1 0 "" HG00731 nsv6040676 1 16416094 16416094 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534173 M 405 1 0 "" nsv4536493 1 16416094 16416095 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027516 M 10847 1 0 "" nsv3185913 1 16416094 16416153 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388052 M 9 0 0 "" NA19240 nsv2800801 1 16416095 16416095 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685595 M 2 1 0 "" nsv3321110 1 16416095 16416095 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490089,nssv14476601,nssv14478941,nssv14490396 M 14 4 0 "" CHM13,HG02818,NA12878,NA19240 nsv5967445 1 16416095 16416095 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17365207 M 914 1 0 "" nsv5968269 1 16416095 16416935 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17359354 M 914 0 0 "" nsv3064020 1 16416098 16416098 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035070 M 2 1 0 "" NA12878 nsv3320029 1 16416759 16416808 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474064 M 14 0 1 "" NA19434 nsv5612909 1 16421209 16421209 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061234 M 35 1 0 "" HG03486 nsv5955902 1 16421209 16421209 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360852 M 914 1 0 "" nsv6053087 1 16421219 16421219 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533987 M 405 1 0 "" esv1072127 1 16421223 16421223 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3733226 M 2 1 0 "" HuRef nsv3320252 1 16421231 16421231 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473301 M 14 1 0 "" HG02818 nsv6328898 1 16426945 16427716 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052487 M 19652 0 1 "" nsv6538211 1 16427391 16428936 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247340 M 19652 0 0 "" nsv5429171 1 16427518 16427589 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896496 M 3202 0 1 "" dgv97n223 1 16429696 16433895 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6333571,nsv6330190 M 19652 0 2 "" nsv5583662 1 16429702 16435185 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061244 M 35 0 1 "" HG03486 esv2674944 1 16429702 16435186 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5749349,essv5620580,essv5968961,essv6207393,essv5630758,essv6082751,essv6055609,essv5809448,essv5849998,essv5977599,essv5566499,essv5735031,essv6338934,essv6200466 M 1151 0 14 "" HG01083,HG01390,NA19235,NA19248,NA19347,NA19390,NA19394,NA19397,NA19403,NA19431,NA19434,NA19440,NA19455,NA19462 nsv3320256 1 16429704 16435187 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479473,nssv14490325 M 14 0 2 "" HG02818,NA19434 nsv5868327 1 16429717 16435233 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351972 M 914 0 1 "" nsv5828063 1 16429743 16435184 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468902 M 914 0 0 "" nsv6138378 1 16429748 16435233 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896499 M 3202 0 1 "" dgv30n166 1 16429753 16435627 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4039195,nsv4043904 M 10847 0 2 "" esv3585331 1 16429786 16435215 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865022,essv9864921,essv9865019,essv9864922,essv9865013,essv9864920,essv9865004,essv9864925,essv9865014,essv9864923,essv9865010,essv9864924,essv9865016,essv9865041,essv9864960,essv9865006,essv9865032,essv9864993,essv9865018,essv9865025,essv9864952,essv9865007,essv9865038,essv9864992,essv9865008,essv9865043,essv9864971,essv9865024,essv9865027,essv9864972,essv9865021,essv9865036,essv9864967,essv9865017,essv9865034,essv9864988,essv9865009,essv9865026,essv9864976,essv9865011,essv9865042,essv9864940,essv9865005,essv9865040,essv9864979,essv9865020,essv9865039,essv9864965,essv9865012,essv9865044,essv9864959,essv9865023,essv9865045,essv9864955,essv9865015,essv9865030,essv9864945,essv9865028,essv9864977,essv9865029,essv9864987,essv9865037,essv9864975,essv9865035,essv9864991,essv9865046,essv9864954,essv9865031,essv9864961,essv9865033,essv9864973,essv9864927,essv9864964,essv9864934,essv9864953,essv9864938,essv9864980,essv9864936,essv9864951,essv9864928,essv9864946,essv9864935,essv9864982,essv9864933,essv9864956,essv9864931,essv9864985,essv9864929,essv9864957,essv9864932,essv9864974,essv9864939,essv9864984,essv9864930,essv9864994,essv9864926,essv9864962,essv9864937,essv9864986,essv9865003,essv9864942,essv9864996,essv9864981,essv9865002,essv9864995,essv9864997,essv9864966,essv9865001,essv9864958,essv9865000,essv9864947,essv9864998,essv9864941,essv9864999,essv9864989,essv9864963,essv9864990,essv9864983,essv9864978,essv9864968,essv9864969,essv9864950,essv9864948,essv9864970,essv9864943,essv9864944,essv9864949 M 2504 0 127 "" HG01083,HG01105,HG01167,HG01390,HG01456,HG01550,HG01882,HG01886,HG01958,HG02307,HG02314,HG02318,HG02322,HG02323,HG02339,HG02420,HG02442,HG02449,HG02462,HG02470,HG02502,HG02536,HG02541,HG02570,HG02571,HG02582,HG02586,HG02588,HG02589,HG02610,HG02642,HG02678,HG02703,HG02721,HG02759,HG02769,HG02807,HG02808,HG02810,HG02816,HG02881,HG02882,HG02952,HG03039,HG03045,HG03048,HG03066,HG03074,HG03086,HG03095,HG03105,HG03118,HG03121,HG03126,HG03129,HG03130,HG03133,HG03139,HG03163,HG03166,HG03172,HG03224,HG03246,HG03267,HG03270,HG03301,HG03342,HG03363,HG03370,HG03410,HG03428,HG03432,HG03437,HG03451,HG03455,HG03461,HG03484,HG03511,HG03548,HG03556,HG03565,HG03571,HG03578,HG03706,NA18502,NA18517,NA18873,NA18909,NA19036,NA19042,NA19095,NA19131,NA19143,NA19147,NA19184,NA19189,NA19201,NA19214,NA19235,NA19248,NA19314,NA19320,NA19347,NA19350,NA19351,NA19375,NA19390,NA19394,NA19397,NA19403,NA19431,NA19434,NA19440,NA19455,NA19461,NA19462,NA19908,NA19909,NA19982,NA20278,NA20287,NA20291,NA20294,NA20320,NA20321,NA20332,NA20355 nsv6320060 1 16430796 16435195 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052493 M 19652 0 1 "" nsv833869 1 16436753 16605129 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443029 M 95 0 1 ARHGEF19,EPHA2,FBXO42,RSG1 nsv6545860 1 16442669 16469127 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247344 M 19652 0 0 EPHA2 nsv5612892 1 16451888 16451888 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061248 M 35 1 0 EPHA2 HG02492 nsv4533824 1 16456665 16456666 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027527 M 10847 1 0 EPHA2 nsv5432955 1 16457621 16457675 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896500 M 3202 1 0 EPHA2 nsv5604910 1 16458008 16458008 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061251 M 35 1 0 EPHA2 HG02492 esv3663023 1 16459243 16459243 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485924 M 20 1 0 EPHA2 nsv5981892 1 16459313 16459441 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527948 M 405 0 1 EPHA2 esv3670761 1 16459372 16459372 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492890 M 20 1 0 EPHA2 nsv5614211 1 16459424 16459424 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061252 M 35 1 0 EPHA2 NA19983 nsv5610325 1 16462790 16462790 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061253 M 35 1 0 EPHA2 HG02492 nsv1126978 1 16462878 16462944 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985267 M 2 0 1 EPHA2 KWS1 nsv5881480 1 16463156 16463207 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369529 M 914 0 1 EPHA2 nsv5981427 1 16463156 16463208 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528648 M 405 0 1 EPHA2 esv3663034 1 16463838 16463838 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485934 M 20 1 0 EPHA2 nsv470699 1 16466003 16530716 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547711 M 443 0 1 ARHGEF19,EPHA2 HGDP00697 nsv5981428 1 16469128 16469268 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522414 M 405 0 1 EPHA2 nsv5981429 1 16469263 16469384 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530022 M 405 0 1 EPHA2 nsv5424348 1 16472618 16472704 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896501 M 3202 1 0 EPHA2 nsv5883299 1 16487529 16487822 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358822 M 914 0 1 "" nsv4754804 1 16490534 16490534 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16273417 M 25 1 0 "" nsv4536952 1 16490535 16490536 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027548 M 10847 1 0 "" nsv5612611 1 16490549 16490549 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061044 M 35 1 0 "" HG00732 nsv5955684 1 16490549 16490549 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352106 M 914 1 0 "" nsv6048544 1 16490549 16490549 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533686 M 405 1 0 "" nsv3321122 1 16490550 16490550 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479785,nssv14474593,nssv14476368 M 14 3 0 "" HX1,NA19240,NA19434 esv1258099 1 16490555 16490555 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4037753 M 2 1 0 "" HuRef nsv3539392 1 16490561 16490561 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385713,nssv14438761 M 9 2 0 "" HG00733,NA19240 esv2744397 1 16492409 16492917 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6748387,essv6675202 M 96 0 2 "" SSM008,SSM032 nsv1076165 1 16492642 16492703 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766803 M 1 0 1 "" KWP1 nsv3280438 1 16492644 16492700 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441990 M 9 0 1 "" HG00733 esv1271324 1 16492647 16492707 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3655096 M 2 0 1 "" HuRef nsv5885777 1 16492654 16492733 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17361160 M 914 1 0 "" nsv4536568 1 16492659 16492660 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027559 M 10847 1 0 "" nsv4765166 1 16492661 16492661 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16281519 M 25 1 0 "" dgv2e180 1 16492664 16492735 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array esv993773,esv993479 M 3 0 1 "" HuRef nsv5867891 1 16492680 16492735 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355269 M 914 0 1 "" esv3549454 1 16492680 16492736 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9748201 M 767 0 1 "" nsv1122303 1 16492680 16492736 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969754 M 2 0 1 "" KWS2 nsv3525619 1 16492680 16492736 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14345691,nssv14345690 M 9 0 2 "" HG00732,HG00733 nsv5981897 1 16492680 16492736 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526269 M 405 0 1 "" nsv5570169 1 16492687 16492746 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061047 M 35 0 1 "" HG01505 nsv4034342 1 16492694 16493075 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849294 M 10847 0 1 "" nsv6048555 1 16492696 16492696 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530316 M 405 1 0 "" nsv3932706 1 16492724 16492724 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191262 M 1 1 0 "" HG002 nsv4444717 1 16492724 16492724 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15758192 M 1 1 0 "" esv3665359 1 16512082 16512152 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488027 M 20 0 0 "" nsv4537285 1 16514488 16514489 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027567 M 10847 1 0 "" esv3585332 1 16516967 16525168 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865047 M 2504 0 1 ARHGEF19 HG03823 nsv5418053 1 16517091 16524960 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896503 M 3202 0 1 ARHGEF19 nsv6319062 1 16517091 16524960 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053293 M 19652 0 1 ARHGEF19 esv3663053 1 16518455 16518455 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485951 M 20 1 0 "" nsv5544470 1 16519108 16519277 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896504 M 3202 1 0 "" nsv6316702 1 16519691 16521365 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053296 M 19652 0 1 "" esv3665395 1 16521604 16521657 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488060 M 20 0 0 "" nsv545641 1 16530049 16661427 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173785 M 17421 0 1 ARHGEF19,FBXO42,RSG1 HGDP01309 nsv4051834 1 16539841 16540654 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849314 M 10847 0 1 "" nsv5981659 1 16541488 16541558 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520108 M 405 0 1 "" nsv954845 1 16541601 16563600 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003131 M 1 0 1 RSG1 BILGI_BIOE nsv5419821 1 16542016 16571040 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896505 M 3202 0 1 RSG1 esv3585333 1 16542020 16571033 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865048 M 2504 0 1 RSG1 HG03643 nsv6332114 1 16546808 16553549 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052498 M 19652 0 1 "" nsv3520 1 16547808 16582246 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2762 M 9 1 0 FBXO42,RSG1 NA18555 nsv1149944 1 16551740 16551810 CNV deletion John_et_al_2014 26484159 Sequencing nssv3998729 M 1 0 1 "" KWB1 nsv5414677 1 16556892 16557184 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896515 M 3202 0 1 "" dgv18e212 1 16563936 16593338 CNV gain Uddin_et_al_2014 25503493 SNP array esv3575583,esv3575694 M 873 3 0 FBXO42 400410CD,400618GC,401532LJ nsv6324484 1 16565191 16593869 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201893 M 19652 1 0 FBXO42 nsv5414169 1 16565191 16593872 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896526 M 3202 1 0 FBXO42 nsv4042325 1 16565191 16593926 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963807 M 10847 1 0 FBXO42 nsv5423931 1 16567234 16572944 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896537 M 3202 0 1 "" nsv6317273 1 16567404 16568548 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052508 M 19652 0 1 "" nsv4049676 1 16567405 16568548 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849887 M 10847 0 1 "" esv3585334 1 16568887 16592199 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865049 M 2504 1 0 FBXO42 HG00160 nsv6331650 1 16570495 16570969 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201895 M 19652 1 0 "" nsv5981569 1 16584048 16588026 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531423 M 405 0 1 FBXO42 nsv4039048 1 16585501 16590513 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849897 M 10847 0 1 FBXO42 nsv545642 1 16585818 16672559 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173786 M 17421 0 1 FBXO42 HGDP00286 nsv6549164 1 16588965 16589494 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247957 M 19652 0 0 FBXO42 nsv4046319 1 16590363 16592579 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963808 M 10847 1 0 FBXO42 nsv5564834 1 16592723 16592773 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17060864 M 35 0 1 FBXO42 NA19239 nsv5867806 1 16592723 16592773 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356102 M 914 0 1 FBXO42 nsv3203273 1 16592723 16592774 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14348008 M 9 0 1 FBXO42 NA19239 nsv4047918 1 16593496 16602033 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849906 M 10847 0 1 FBXO42 nsv6317852 1 16593496 16602033 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052518 M 19652 0 1 FBXO42 nsv4459648 1 16594285 16594286 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027577 M 10847 1 0 FBXO42 nsv5678062 1 16594300 16594300 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17179000 M 3202 1 0 FBXO42 nsv5399748 1 16594300 16594351 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896547 M 3202 1 0 FBXO42 nsv6256261 1 16597287 16597287 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858543 M 1021 1 0 FBXO42 nsv4033808 1 16598066 16599009 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849917 M 10847 0 1 FBXO42 nsv6318204 1 16598948 16608868 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052521 M 19652 0 1 FBXO42 nsv5875225 1 16600686 16601998 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365246 M 914 0 1 FBXO42 nsv6334759 1 16604828 16609357 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052525 M 19652 0 1 FBXO42 nsv6320616 1 16607624 16608319 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052526 M 19652 0 1 FBXO42 nsv6542502 1 16608220 16609205 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247960 M 19652 0 0 FBXO42 nsv5423210 1 16608728 16610004 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896558 M 3202 0 1 FBXO42 nsv6545766 1 16608938 16609492 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247961 M 19652 0 0 FBXO42 nsv4034096 1 16610306 16610437 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849936 M 10847 0 1 FBXO42 nsv5886258 1 16614382 16614454 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365765 M 914 0 1 FBXO42 nsv5885679 1 16614817 16615376 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351426 M 914 0 1 FBXO42 nsv4035413 1 16614830 16615377 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849945 M 10847 0 1 FBXO42 nsv6331391 1 16614830 16615377 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052532 M 19652 0 1 FBXO42 nsv6315794 1 16622028 16625602 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052537 M 19652 0 1 FBXO42 nsv4046558 1 16623121 16623292 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849962 M 10847 0 1 FBXO42 dgv98n223 1 16624238 16625566 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6548424,nsv6554260 M 19652 0 0 FBXO42 nsv6549551 1 16630706 16631218 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247964 M 19652 0 0 FBXO42 nsv6538719 1 16635382 16636538 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247965 M 19652 0 0 FBXO42 nsv4753050 1 16637580 16637580 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16276842 M 25 1 0 FBXO42 esv1036042 1 16637582 16637582 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3767129 M 2 1 0 FBXO42 HuRef esv3670768 1 16637582 16637582 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492896 M 20 1 0 FBXO42 nsv3561294 1 16637582 16637582 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14346155,nssv14346154 M 9 2 0 FBXO42 HG00731,NA19239 nsv3929943 1 16637582 16637582 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191269 M 1 1 0 FBXO42 HG002 nsv4444718 1 16637582 16637582 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757071 M 1 1 0 FBXO42 nsv5544862 1 16637582 16637582 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896569 M 3202 1 0 FBXO42 nsv5615497 1 16637582 16637582 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061501 M 35 1 0 FBXO42 HG00731 nsv5958597 1 16637582 16637582 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17355464 M 914 1 0 FBXO42 nsv6052351 1 16637582 16637582 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534637 M 405 1 0 FBXO42 nsv4537044 1 16637582 16637583 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027586 M 10847 1 0 FBXO42 nsv2800809 1 16637583 16637583 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694808 M 2 1 0 FBXO42 nsv3064024 1 16637583 16637583 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034129 M 2 1 0 FBXO42 NA12878 nsv3321315 1 16637583 16637583 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14484682,nssv14489220 M 14 2 0 FBXO42 CHM13,NA12878 esv2618916 1 16639768 16639820 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5350545 M 1 0 1 FBXO42 NA18507 nsv6256272 1 16643354 16643354 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17859083 M 1021 1 0 FBXO42 nsv3200588 1 16646187 16657688 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14257979 M 9 0 1 FBXO42 HG00732 nsv6317166 1 16646677 16655600 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201902 M 19652 1 0 FBXO42 nsv4036402 1 16646727 16655571 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963809 M 10847 1 0 FBXO42 nsv6316599 1 16647820 16706314 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201903 M 19652 1 0 FBXO42,SZRD1 nsv947414 1 16647908 16672782 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2764539 M 97 1 0 FBXO42 HGDP00542 esv3577750 1 16648667 16654842 CNV loss Uddin_et_al_2014 25503493 SNP array essv9799978 M 873 0 1 FBXO42 401196CR nsv5881989 1 16648811 16672082 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17358054 M 914 1 0 FBXO42 nsv5828507 1 16648822 16657586 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454908 M 914 0 0 FBXO42 nsv4052382 1 16649700 16656750 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849979 M 10847 0 1 FBXO42 esv2667137 1 16649712 16657375 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6419344 M 1151 0 1 FBXO42 HG00732 esv3585336 1 16649754 16657313 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865174 M 2504 0 1 FBXO42 HG00732 nsv5579404 1 16649774 16657297 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061503 M 35 0 1 FBXO42 HG00732 nsv5424594 1 16649774 16657298 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896591 M 3202 0 1 FBXO42 nsv3203920 1 16649784 16657293 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14347790,nssv14347789 M 9 0 2 FBXO42 HG00731,HG00732 nsv6322325 1 16649817 16657277 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052572 M 19652 0 1 FBXO42 nsv6325624 1 16650288 16652152 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052573 M 19652 0 1 FBXO42 nsv6055037 1 16651018 16651018 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526834 M 405 1 0 FBXO42 nsv4535105 1 16653935 16653936 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028639 M 10847 1 0 FBXO42 nsv6332317 1 16656746 16657980 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201904 M 19652 1 0 FBXO42 nsv5687707 1 16661586 16661586 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17177543 M 3202 1 0 FBXO42 nsv6256283 1 16661586 16661586 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17859084 M 1021 1 0 FBXO42 nsv5828280 1 16661649 16670291 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459301 M 914 0 0 FBXO42 nsv6555158 1 16662205 16662484 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247967 M 19652 0 0 FBXO42 nsv4044911 1 16662293 16667968 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849985 M 10847 0 1 FBXO42 nsv6540596 1 16662867 16663569 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247968 M 19652 0 0 FBXO42 nsv1113081 1 16662951 16663020 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967972 M 2 0 1 FBXO42 KWS2 nsv3239662 1 16663165 16665266 OTHER inversion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14458277 M 9 0 0 FBXO42 HG00512 nsv3244207 1 16663309 16665262 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14348949 M 9 0 0 FBXO42 HG00512 nsv5540215 1 16665252 16665252 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896594 M 3202 1 0 FBXO42 nsv5621760 1 16665265 16665265 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061509 M 35 1 0 FBXO42 HG00512 nsv6552566 1 16666359 16666926 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247969 M 19652 0 0 FBXO42 nsv5415337 1 16668908 16669069 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896595 M 3202 0 1 FBXO42 nsv6536267 1 16669922 16670660 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247970 M 19652 0 0 FBXO42 nsv6553344 1 16670816 16671626 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247972 M 19652 0 0 FBXO42 nsv4038673 1 16671000 16676200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849995 M 10847 0 1 FBXO42 nsv4045727 1 16672118 16672235 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850005 M 10847 0 1 FBXO42 nsv5423397 1 16672118 16672235 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896596 M 3202 0 1 FBXO42 nsv6330293 1 16672994 16676995 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052591 M 19652 0 1 FBXO42 nsv6549870 1 16673157 16673440 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247975 M 19652 0 0 FBXO42 nsv3927422 1 16677243 16677243 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191270 M 1 1 0 FBXO42 HG002 nsv5607954 1 16677244 16677244 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061510 M 35 1 0 FBXO42 NA24385 nsv4444719 1 16677245 16677245 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762968 M 1 1 0 FBXO42 nsv6538463 1 16680686 16681801 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247976 M 19652 0 0 "" nsv6554004 1 16683137 16683740 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247978 M 19652 0 0 "" nsv5870686 1 16683955 16684260 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360362 M 914 0 1 "" nsv6334338 1 16686001 16687865 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052605 M 19652 0 1 "" nsv511679 1 16686601 16690950 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626317 M 1 0 1 "" 1 nsv5828282 1 16686981 16687980 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458629,nssv17458582 M 914 0 0 "" nsv4037512 1 16686985 16690639 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850014 M 10847 0 1 "" nsv6334830 1 16686985 16690639 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052606 M 19652 0 1 "" nsv6321301 1 16690766 16692830 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052609 M 19652 0 1 "" nsv4459071 1 16692254 16692255 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028650 M 10847 1 0 "" nsv945790 1 16695239 16696016 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756216,nssv1756297,nssv1756215,nssv1756299,nssv1756209,nssv1756252,nssv1756207,nssv1756298,nssv1756291,nssv1756294,nssv1756208,nssv1756253,nssv1756238,nssv1756277,nssv1756284,nssv1756275,nssv1756243,nssv1756293,nssv1756283,nssv1756281,nssv1756226,nssv1756245,nssv1756222,nssv1756301,nssv1756206,nssv1756261,nssv1756242,nssv1756267,nssv1756224,nssv1756269,nssv1756231,nssv1756300,nssv1756237,nssv1756296,nssv1756227,nssv1756247,nssv1756230,nssv1756266,nssv1756232,nssv1756254,nssv1756290,nssv1756282,nssv1756223,nssv1756263,nssv1756286,nssv1756271,nssv1756239,nssv1756272,nssv1756214,nssv1756270,nssv1756219,nssv1756273,nssv1756210,nssv1756244,nssv1756218,nssv1756276,nssv1756229,nssv1756248,nssv1756285,nssv1756251,nssv1756220,nssv1756264,nssv1756211,nssv1756262,nssv1756217,nssv1756250,nssv1756228,nssv1756295,nssv1756234,nssv1756278,nssv1756221,nssv1756256,nssv1756288,nssv1756274,nssv1756241,nssv1756279,nssv1756213,nssv1756260,nssv1756289,nssv1756265,nssv1756235,nssv1756249,nssv1756233,nssv1756259,nssv1756287,nssv1756255,nssv1756236,nssv1756246,nssv1756212,nssv1756268,nssv1756225,nssv1756257,nssv1756240,nssv1756258,nssv1756292,nssv1756280,nssv1756302 M 97 10 0 SZRD1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4051981 1 16696814 16699739 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850024 M 10847 0 1 SZRD1 nsv6334866 1 16696818 16699739 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052618 M 19652 0 1 SZRD1 nsv5555579 1 16697712 16698534 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896598 M 3202 0 0 SZRD1 nsv5542862 1 16698528 16698528 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896599 M 3202 1 0 SZRD1 esv3674494 1 16700090 16700177 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496249 M 20 0 0 SZRD1 nsv4459655 1 16700907 16700908 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028661 M 10847 1 0 SZRD1 nsv5415980 1 16701456 16733666 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896600 M 3202 1 0 SPATA21,SZRD1 nsv4038944 1 16705334 16705426 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850030 M 10847 0 1 SZRD1 nsv4516561 1 16705459 16705887 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963810 M 10847 1 0 SZRD1 nsv6331359 1 16705517 16708831 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052633 M 19652 0 1 SZRD1 nsv4036637 1 16705831 16706161 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849773 M 10847 0 1 SZRD1 nsv6328441 1 16705831 16706161 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052765 M 19652 0 1 SZRD1 nsv4035720 1 16706871 16706951 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849781 M 10847 0 1 SZRD1 nsv4050723 1 16706987 16712615 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849792 M 10847 0 1 SZRD1 nsv6334253 1 16709981 16710246 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052637 M 19652 0 1 SZRD1 nsv4517263 1 16710003 16710246 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849804 M 10847 0 1 SZRD1 nsv5421870 1 16710003 16710246 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896601 M 3202 0 1 SZRD1 nsv3114534 1 16710692 16826189 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nssv14090885 M 467 1 0 CROCCP3,NECAP2,SPATA21,SZRD1 sample273 nsv4044937 1 16710997 16711915 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849814 M 10847 0 1 SZRD1 nsv5427252 1 16710997 16711915 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896602 M 3202 0 1 SZRD1 esv3585337 1 16715499 16733725 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865175 M 2504 1 0 SPATA21,SZRD1 HG03978 nsv4035542 1 16729034 16734205 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849823 M 10847 0 1 SPATA21 nsv3192456 1 16729038 16729279 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14348208 M 9 0 1 SPATA21 HG00514 nsv4036320 1 16731088 16741115 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849833 M 10847 0 1 SPATA21 nsv6325543 1 16735364 16756615 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201916 M 19652 1 0 SPATA21 nsv4037456 1 16736074 16736674 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849840 M 10847 0 1 SPATA21 nsv5428943 1 16736190 16736674 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896603 M 3202 0 1 SPATA21 nsv6332761 1 16737158 16739210 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052668 M 19652 0 1 SPATA21 nsv3199723 1 16748357 16756725 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255002,nssv14255001 M 9 0 2 SPATA21 HG00512,HG00514 nsv829581 1 16748650 16755035 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1421445 M 31 0 1 SPATA21 NA18997 nsv6318171 1 16749278 16751129 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052677 M 19652 0 1 SPATA21 nsv4047528 1 16749279 16751129 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849847 M 10847 0 1 SPATA21 esv2675247 1 16749495 16756842 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6234125,essv5923478,essv5844196,essv5998659,essv5861121,essv6408124,essv5934337 M 1151 0 7 SPATA21 HG00448,HG00501,HG00512,HG00524,HG00626,HG00629,HG00663 nsv5981501 1 16749569 16749824 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518292 M 405 0 1 SPATA21 nsv6555084 1 16749908 16750227 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247985 M 19652 0 0 SPATA21 nsv4444720 1 16750681 16750681 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765987 M 1 1 0 SPATA21 nsv6052449 1 16750699 16750699 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523431 M 405 1 0 SPATA21 esv3670771 1 16750700 16750700 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492899 M 20 1 0 SPATA21 nsv3523667 1 16750700 16750700 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438762,nssv14412743,nssv14374126 M 9 3 0 SPATA21 HG00514,HG00733,NA19240 nsv3929669 1 16750700 16750700 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191271 M 1 1 0 SPATA21 HG002 nsv5621949 1 16750700 16750700 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061527 M 35 1 0 SPATA21 HG00731 nsv5964983 1 16750700 16750700 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354356 M 914 1 0 SPATA21 nsv2801049 1 16750701 16750701 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699566 M 2 1 0 SPATA21 nsv3065709 1 16750701 16750701 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14038284 M 2 1 0 SPATA21 CHM1 nsv3321319 1 16750701 16750701 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14481603,nssv14480762,nssv14477094,nssv14475154,nssv14485942,nssv14488869,nssv14486433,nssv14489025,nssv14485832,nssv14489323,nssv14480868,nssv14475794,nssv14484846,nssv14474966 M 14 14 0 SPATA21 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4767425 1 16750703 16750703 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16282867 M 25 1 0 SPATA21 nsv3056066 1 16750704 16750704 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14028013 M 2 1 0 SPATA21 NA12878 esv1035588 1 16750713 16750713 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3853896 M 2 1 0 SPATA21 HuRef nsv5828708 1 16751131 16752767 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460159 M 914 0 0 SPATA21 nsv5566855 1 16751156 16755117 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061528 M 35 0 1 SPATA21 HG00512 nsv5869645 1 16751156 16755117 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355901 M 914 0 1 SPATA21 esv2674598 1 16751156 16755118 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6096210,essv6114958,essv6414142,essv5945549,essv6498947,essv6334699,essv6031717,essv5447426,essv6459305,essv5767891,essv5702426,essv5496584,essv6007559,essv5794132 M 1151 0 14 SPATA21 HG00448,HG00501,HG00512,HG00524,HG00663,NA18548,NA18557,NA18561,NA18574,NA18576,NA18596,NA18633,NA19003,NA19087 nsv6322277 1 16751156 16755118 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052682 M 19652 0 1 SPATA21 dgv19n67 1 16751159 16755035 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv829592,nsv829603 M 31 0 3 SPATA21 AK14,AK6,NA18969 nsv3205844 1 16751166 16755119 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14349178,nssv14349179 M 9 0 2 SPATA21 HG00512,HG00514 nsv4745234 1 16751169 16755131 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278786 M 25 0 1 SPATA21 nsv3321320 1 16751172 16755133 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480320 M 14 0 1 SPATA21 HG00514 nsv3182784 1 16751182 16755140 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14415497 M 9 0 0 SPATA21 HG00514 nsv5981575 1 16751183 16755118 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519790 M 405 0 1 SPATA21 nsv4048539 1 16751185 16755118 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849856 M 10847 0 1 SPATA21 nsv6138788 1 16751185 16755118 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896607 M 3202 0 1 SPATA21 esv2744408 1 16751192 16755106 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6874707,essv6764164,essv6871715,essv6718909,essv6744935 M 96 0 5 SPATA21 SSM007,SSM055,SSM063,SSM091,SSM092 esv3585338 1 16751203 16755179 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865188,essv9865177,essv9865184,essv9865182,essv9865187,essv9865181,essv9865185,essv9865178,essv9865183,essv9865180,essv9865186,essv9865179,essv9865176,essv9865195,essv9865194,essv9865202,essv9865200,essv9865193,essv9865197,essv9865199,essv9865190,essv9865189,essv9865192,essv9865201,essv9865196,essv9865191,essv9865198 M 2504 0 27 SPATA21 HG00448,HG00524,HG00622,HG00632,HG00663,HG00728,HG01028,HG01799,HG02032,HG02073,HG02075,HG02155,HG02513,NA18548,NA18557,NA18561,NA18574,NA18596,NA18633,NA18639,NA18643,NA18967,NA18969,NA18994,NA18997,NA19003,NA19087 esv3577751 1 16751221 16755882 CNV loss Uddin_et_al_2014 25503493 SNP array essv9800200,essv9800089 M 873 0 2 SPATA21 400043HC,400360SM nsv4046167 1 16752949 16753250 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849875 M 10847 0 1 SPATA21 nsv5828284 1 16753068 16755167 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462216 M 914 0 0 SPATA21 nsv6333479 1 16756072 16779707 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053812 M 19652 0 1 NECAP2,SPATA21 nsv6539413 1 16756073 16756723 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247989 M 19652 0 0 SPATA21 nsv6320435 1 16761652 16763176 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052776 M 19652 0 1 SPATA21 nsv6551943 1 16761947 16762658 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247990 M 19652 0 0 SPATA21 esv2758925 1 16764333 17483981 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756838,esv2757725 M 270 182 33 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MFAP2,MIR3675,MST1L,MST1P2,NBPF1,NECAP2,PADI2,SDHB NA06991,NA06993,NA07000,NA07019,NA07022,NA07034,NA07048,NA07055,NA07357,NA10830,NA10831,NA10847,NA10851,NA10855,NA10860,NA10861,NA10863,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11881,NA11882,NA11992,NA11993,NA11994,NA11995,NA12003,NA12004,NA12043,NA12044,NA12056,NA12144,NA12146,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12707,NA12717,NA12740,NA12750,NA12751,NA12753,NA12760,NA12762,NA12763,NA12801,NA12812,NA12813,NA12864,NA12865,NA12872,NA12873,NA12875,NA12878,NA12891,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18506,NA18507,NA18515,NA18516,NA18517,NA18521,NA18522,NA18523,NA18526,NA18529,NA18540,NA18542,NA18545,NA18547,NA18555,NA18558,NA18561,NA18563,NA18564,NA18566,NA18570,NA18571,NA18577,NA18579,NA18582,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18623,NA18632,NA18635,NA18636,NA18637,NA18853,NA18854,NA18855,NA18856,NA18863,NA18870,NA18872,NA18913,NA18940,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18967,NA18968,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19103,NA19116,NA19119,NA19120,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19139,NA19140,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19173,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19221,NA19222,NA19223,NA19238,NA19239 nsv428421 1 16764333 17483981 CNV gain+loss Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv454465,nssv454265,nssv454376,nssv454321,nssv454509,nssv454332,nssv454276,nssv454299,nssv454487,nssv454521,nssv454410,nssv454454,nssv454387,nssv454354,nssv454365,nssv454432,nssv454343,nssv454398,nssv454421,nssv454443,nssv454310,nssv454476,nssv454498 M 62 17 6 ATP13A2,CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MFAP2,MIR3675,MST1L,MST1P2,NBPF1,NECAP2,PADI2,SDHB HGDP00449,HGDP00450,HGDP00460,HGDP00462,HGDP00463,HGDP00467,HGDP00472,HGDP00476,HGDP00984,HGDP00986,HGDP01086,HGDP01088,HGDP01093,HGDP01094,NA18498,NA18916,NA19096,NA19147,NA19181,NA19225,NA19257 nsv1077130 1 16765079 16766617 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764232 M 1 0 1 "" KWP1 nsv1121708 1 16765079 16766617 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989635,nssv3994207 M 2 0 2 "" KWS1,KWS2 dgv1n68 1 16765771 16936692 CNV loss Wong_et_al_2007 17160897 BAC aCGH nsv833980,nsv834092 M 95 0 8 CROCCP3,MIR3675,NBPF1,NECAP2 nsv6552154 1 16765795 16766324 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247991 M 19652 0 0 "" nsv5828598 1 16767496 16769495 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457685 M 914 0 0 NECAP2 nsv9213 1 16777017 16779533 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv12118,nssv13424,nssv15103 M 31 0 3 NECAP2 NA18504,NA18517,NA19144 dgv39n100 1 16777679 17291882 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002322,nsv1015127,nsv1012519,nsv1002985,nsv1001569,nsv1014379,nsv1001032,nsv1003077,nsv1013995,nsv1012639,nsv1012642,nsv1007741,nsv1010082,nsv1003293,nsv998219,nsv1009669,nsv1000113,nsv998739,nsv1014522,nsv1000484,nsv1011646,nsv1011657,nsv1008783,nsv1014635,nsv1005562,nsv1004738,nsv1013089,nsv1012031,nsv1004894,nsv1005184,nsv1005297,nsv1005491 M 11257 50 0 CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1,NECAP2 nsv6328697 1 16782740 16791382 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201920 M 19652 1 0 NECAP2 nsv4044878 1 16782762 16791383 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963811 M 10847 1 0 NECAP2 nsv6330805 1 16789696 16790995 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052790 M 19652 0 1 "" nsv5424174 1 16789976 16790266 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896609 M 3202 0 1 "" nsv3117492 1 16791648 16826189 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14091019 M 467 0 1 CROCCP3 sample274 nsv4047411 1 16791868 16791977 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850627 M 10847 0 1 "" nsv4033037 1 16793278 16793351 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963812 M 10847 1 0 "" nsv5433136 1 16793278 16793354 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896610 M 3202 1 0 "" dgv40n100 1 16796721 16986839 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997628,nsv998355,nsv1006224,nsv1013886,nsv1008610 M 11257 5 0 CROCCP2,CROCCP3,MIR3675,MST1P2,NBPF1 nsv9324 1 16797147 17281224 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv13420,nssv13742,nssv13750,nssv14100,nssv13419,nssv11785,nssv14080,nssv28922,nssv14410,nssv14740,nssv13422,nssv12758,nssv13756,nssv12097,nssv12753,nssv15438,nssv15768,nssv13754,nssv13749,nssv13426,nssv14082,nssv12428,nssv16098,nssv13092,nssv13096,nssv14760,nssv14415,nssv14421,nssv12766,nssv12098,nssv14085,nssv14414,nssv16414,nssv12440,nssv15424,nssv14430,nssv13090,nssv13752,nssv29254,nssv14744,nssv16763,nssv17093,nssv15779,nssv12778,nssv17423,nssv11767,nssv15104,nssv12448,nssv14084,nssv12116,nssv13089,nssv16084,nssv11768,nssv13761,nssv13104,nssv29255,nssv15754,nssv14091 M 31 11 17 CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 NA07029,NA07048,NA10839,NA10847,NA11830,NA12155,NA12740,NA12802,NA18502,NA18517,NA18537,NA18552,NA18564,NA18853,NA18860,NA18972,NA18975,NA18980,NA19007,NA19144,NA19173,NA19221 nsv4036844 1 16800908 16802544 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850638 M 10847 0 1 CROCCP3 nsv5981912 1 16801313 16801413 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537378 M 405 0 1 CROCCP3 nsv4039392 1 16804040 16806517 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963813 M 10847 1 0 CROCCP3 nsv1161242 1 16804341 17087292 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4029651 M 369 1 0 CROCCP2,CROCCP3,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 esv3663079 1 16804714 16804714 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485975 M 20 1 0 CROCCP3 nsv5874690 1 16805679 16805984 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356795 M 914 0 1 CROCCP3 nsv6325802 1 16805696 16826495 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052836 M 19652 0 1 CROCCP3 esv3663084 1 16805974 16805974 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485980 M 20 1 0 CROCCP3 nsv436814 1 16806094 16950241 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465509 M 2 1 0 CROCCP2,CROCCP3,MIR3675,NBPF1 NA18505 nsv5614695 1 16806338 16806338 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061534 M 35 1 0 CROCCP3 HG00171 nsv5883934 1 16806338 16806473 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349931 M 914 0 1 CROCCP3 nsv5981913 1 16806338 16806474 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523120 M 405 0 1 CROCCP3 nsv4047371 1 16806373 16806474 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850648 M 10847 0 1 CROCCP3 nsv6323334 1 16806596 16808695 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052835 M 19652 0 1 CROCCP3 nsv4739109 1 16806639 16808739 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16292719 M 25 0 1 CROCCP3 nsv5828510 1 16806660 16807959 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455938 M 914 0 0 CROCCP3 nsv5868990 1 16806696 16808842 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351216 M 914 0 1 CROCCP3 esv2750816 1 16808694 17029714 CNV gain Pinto_et_al_2007 17911159 SNP array essv6981188,essv6985510 M 771 2 0 CROCCP2,CROCCP3,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 BEC_362 esv3674500 1 16808712 16808713 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496254 M 20 0 0 CROCCP3 nsv6327879 1 16809096 16811495 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052831 M 19652 0 1 CROCCP3 dgv12n206 1 16809634 17278450 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nsv5559248,nsv5560911 M 3202 0 0 CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 nsv5828599 1 16809835 16811586 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453945 M 914 0 0 CROCCP3 nsv3198197 1 16809835 16815158 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14253484 M 9 0 1 CROCCP3 NA19239 esv3585339 1 16809854 16811588 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865403,essv9865336,essv9865339,essv9865400,essv9865335,essv9865380,essv9865426,essv9865338,essv9865385,essv9865407,essv9865337,essv9865388,essv9865429,essv9865334,essv9865349,essv9865421,essv9865333,essv9865369,essv9865409,essv9865382,essv9865428,essv9865364,essv9865399,essv9865351,essv9865396,essv9865360,essv9865411,essv9865366,essv9865420,essv9865381,essv9865415,essv9865341,essv9865414,essv9865342,essv9865416,essv9865354,essv9865417,essv9865365,essv9865418,essv9865379,essv9865423,essv9865346,essv9865427,essv9865358,essv9865395,essv9865390,essv9865401,essv9865356,essv9865397,essv9865352,essv9865412,essv9865372,essv9865405,essv9865371,essv9865419,essv9865368,essv9865410,essv9865370,essv9865408,essv9865391,essv9865424,essv9865348,essv9865402,essv9865377,essv9865398,essv9865373,essv9865406,essv9865362,essv9865413,essv9865375,essv9865404,essv9865361,essv9865394,essv9865353,essv9865422,essv9865392,essv9865425,essv9865383,essv9865207,essv9865359,essv9865211,essv9865393,essv9865208,essv9865350,essv9865206,essv9865376,essv9865210,essv9865344,essv9865205,essv9865367,essv9865203,essv9865340,essv9865209,essv9865384,essv9865204,essv9865387,essv9865332,essv9865343,essv9865319,essv9865345,essv9865308,essv9865347,essv9865276,essv9865389,essv9865250,essv9865355,essv9865306,essv9865357,essv9865241,essv9865378,essv9865243,essv9865374,essv9865317,essv9865363,essv9865327,essv9865386,essv9865295,essv9865232,essv9865280,essv9865224,essv9865298,essv9865221,essv9865258,essv9865222,essv9865261,essv9865226,essv9865268,essv9865228,essv9865292,essv9865238,essv9865252,essv9865231,essv9865309,essv9865235,essv9865315,essv9865225,essv9865316,essv9865227,essv9865290,essv9865234,essv9865302,essv9865239,essv9865310,essv9865233,essv9865293,essv9865237,essv9865294,essv9865212,essv9865265,essv9865214,essv9865275,essv9865223,essv9865267,essv9865230,essv9865282,essv9865216,essv9865242,essv9865217,essv9865322,essv9865220,essv9865328,essv9865236,essv9865281,essv9865240,essv9865266,essv9865215,essv9865329,essv9865213,essv9865246,essv9865219,essv9865255,essv9865218,essv9865288,essv9865229,essv9865330,essv9865260,essv9865323,essv9865299,essv9865283,essv9865285,essv9865297,essv9865274,essv9865314,essv9865245,essv9865277,essv9865262,essv9865263,essv9865291,essv9865256,essv9865301,essv9865331,essv9865284,essv9865287,essv9865259,essv9865248,essv9865326,essv9865305,essv9865273,essv9865251,essv9865244,essv9865271,essv9865289,essv9865269,essv9865304,essv9865325,essv9865247,essv9865264,essv9865286,essv9865249,essv9865311,essv9865318,essv9865324,essv9865320,essv9865279,essv9865278,essv9865300,essv9865312,essv9865257,essv9865253,essv9865303,essv9865272,essv9865307,essv9865313,essv9865296,essv9865254,essv9865270,essv9865321 M 2504 0 227 CROCCP3 HG00641,HG01063,HG01105,HG01111,HG01188,HG01241,HG01390,HG01398,HG01551,HG01879,HG01880,HG01883,HG01885,HG01890,HG01914,HG01956,HG01986,HG01989,HG02006,HG02051,HG02090,HG02095,HG02108,HG02255,HG02283,HG02284,HG02315,HG02318,HG02323,HG02325,HG02330,HG02339,HG02419,HG02420,HG02433,HG02439,HG02461,HG02470,HG02481,HG02485,HG02489,HG02496,HG02497,HG02505,HG02558,HG02561,HG02570,HG02574,HG02586,HG02613,HG02621,HG02628,HG02629,HG02634,HG02643,HG02666,HG02667,HG02678,HG02703,HG02768,HG02799,HG02804,HG02807,HG02810,HG02819,HG02860,HG02879,HG02922,HG02976,HG02982,HG03028,HG03039,HG03046,HG03049,HG03052,HG03058,HG03069,HG03072,HG03077,HG03078,HG03079,HG03084,HG03096,HG03099,HG03105,HG03118,HG03127,HG03135,HG03139,HG03157,HG03159,HG03163,HG03166,HG03175,HG03189,HG03193,HG03202,HG03241,HG03258,HG03268,HG03270,HG03280,HG03291,HG03294,HG03295,HG03300,HG03304,HG03311,HG03342,HG03343,HG03352,HG03354,HG03366,HG03367,HG03370,HG03372,HG03382,HG03385,HG03394,HG03397,HG03401,HG03428,HG03442,HG03446,HG03455,HG03457,HG03472,HG03473,HG03478,HG03479,HG03485,HG03515,HG03556,HG03558,HG03571,HG03575,NA18504,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18858,NA18868,NA18871,NA18876,NA18877,NA18878,NA18912,NA18915,NA18917,NA18924,NA18934,NA19025,NA19041,NA19042,NA19098,NA19102,NA19107,NA19108,NA19113,NA19117,NA19118,NA19119,NA19129,NA19131,NA19141,NA19146,NA19147,NA19171,NA19172,NA19198,NA19207,NA19210,NA19235,NA19239,NA19314,NA19318,NA19319,NA19320,NA19321,NA19323,NA19327,NA19331,NA19332,NA19334,NA19338,NA19346,NA19347,NA19350,NA19372,NA19375,NA19377,NA19384,NA19385,NA19394,NA19395,NA19397,NA19399,NA19428,NA19429,NA19431,NA19437,NA19438,NA19446,NA19454,NA19456,NA19461,NA19462,NA19466,NA19467,NA19625,NA19835,NA19900,NA19909,NA19913,NA19914,NA19916,NA20126,NA20281,NA20298,NA20334,NA20339,NA20342,NA20355,NA20357 nsv3526530 1 16809857 16811591 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14348549,nssv14348548 M 9 0 2 CROCCP3 NA19239,NA19240 nsv5569651 1 16809863 16811593 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061535 M 35 0 1 CROCCP3 NA19239 nsv5872548 1 16809863 16811593 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358084 M 914 0 1 CROCCP3 esv2677321 1 16809863 16811594 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5424664,essv6326321,essv5558209,essv5588104,essv5742037,essv5650036,essv5772336,essv5968737,essv5929046,essv5766029,essv5866644,essv6466185,essv6543948,essv5685352,essv5873459,essv6427061,essv6240662,essv5607387,essv5880396,essv5764841,essv6236486,essv6413235,essv5839539,essv5665727,essv5594740,essv5814400,essv5847629,essv6315322,essv6384264,essv6040129,essv6361728,essv5925942,essv6176931,essv6008582,essv6081357,essv6398890,essv6153540,essv6512322,essv6223308,essv5643548,essv5781062,essv6193516,essv6103297,essv5867128,essv5965649,essv5789982,essv6227728,essv5651548,essv6320568,essv6025226,essv5810140,essv6091706,essv5886295,essv5980873,essv5684720,essv5441457,essv6211001,essv5406731,essv5994676,essv6159131,essv5725325,essv6097680,essv6006605,essv5749056,essv6591590,essv5677064,essv5792515,essv5422968,essv5589069,essv5622317,essv5770402,essv6507242,essv5679780,essv6108738,essv6432913,essv6162882,essv6341487,essv5535525,essv5715096,essv5878129,essv5939358,essv6531900,essv6513444 M 1151 0 83 CROCCP3 HG00641,HG01111,HG01390,HG01551,NA07346,NA11994,NA12763,NA12892,NA18486,NA18504,NA18510,NA18516,NA18517,NA18519,NA18520,NA18858,NA18868,NA18871,NA18912,NA18917,NA18924,NA18953,NA18976,NA18981,NA19098,NA19102,NA19107,NA19108,NA19116,NA19129,NA19131,NA19147,NA19152,NA19171,NA19172,NA19198,NA19235,NA19238,NA19239,NA19240,NA19313,NA19318,NA19321,NA19327,NA19331,NA19332,NA19334,NA19338,NA19346,NA19347,NA19350,NA19359,NA19372,NA19375,NA19377,NA19381,NA19382,NA19384,NA19385,NA19394,NA19395,NA19396,NA19397,NA19399,NA19428,NA19429,NA19431,NA19446,NA19461,NA19462,NA19466,NA19467,NA19469,NA19625,NA19835,NA19900,NA19909,NA19914,NA19916,NA20126,NA20281,NA20341,NA20342 nsv3188697 1 16809864 16811595 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392551 M 9 0 0 CROCCP3 NA19240 nsv4517027 1 16809865 16811594 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848186 M 10847 0 1 CROCCP3 nsv5433529 1 16809865 16811594 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896612 M 3202 0 1 CROCCP3 nsv3321132 1 16809866 16811595 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488919 M 14 0 1 CROCCP3 NA19240 nsv159668 1 16809866 16811596 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178246 M 24 CROCCP3 dgv10e201 1 16810061 17003614 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2744419,esv2744452 M 96 0 21 CROCCP2,CROCCP3,LOC729574,MIR3675,MST1P2,NBPF1 SSM001,SSM005,SSM009,SSM017,SSM019,SSM023,SSM025,SSM033,SSM034,SSM038,SSM043,SSM047,SSM055,SSM056,SSM057,SSM066,SSM068,SSM077,SSM078,SSM084,SSM095 nsv6256295 1 16810657 16810657 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17859085 M 1021 1 0 CROCCP3 nsv945793 1 16811263 16963644 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756558,nssv1756363,nssv1756321,nssv1756374,nssv1756329,nssv1756390,nssv1756323,nssv1756369,nssv1756330,nssv1756562,nssv1756322,nssv1756373,nssv1756400,nssv1756389,nssv1756335,nssv1756382,nssv1756340,nssv1756568,nssv1756336,nssv1756385,nssv1756398,nssv1756366,nssv1756354,nssv1756360,nssv1756339,nssv1756365,nssv1756352,nssv1756358,nssv1756356,nssv1756367,nssv1756554,nssv1756372,nssv1756324,nssv1756566,nssv1756557,nssv1756394,nssv1756331,nssv1756391,nssv1756399,nssv1756560,nssv1756350,nssv1756395,nssv1756320,nssv1756380,nssv1756328,nssv1756386,nssv1756347,nssv1756564,nssv1756556,nssv1756359,nssv1756342,nssv1756370,nssv1756555,nssv1756383,nssv1756344,nssv1756387,nssv1756345,nssv1756368,nssv1756337,nssv1756361,nssv1756349,nssv1756378,nssv1756327,nssv1756569,nssv1756351,nssv1756375,nssv1756325,nssv1756384,nssv1756348,nssv1756396,nssv1756326,nssv1756364,nssv1756357,nssv1756392,nssv1756353,nssv1756377,nssv1756332,nssv1756371,nssv1756338,nssv1756561,nssv1756397,nssv1756565,nssv1756334,nssv1756376,nssv1756333,nssv1756388,nssv1756346,nssv1756567,nssv1756343,nssv1756381,nssv1756559,nssv1756379,nssv1756355,nssv1756563,nssv1756341,nssv1756393,nssv1756362 M 97 10 0 CROCCP2,CROCCP3,MIR3675,NBPF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv1e203 1 16813921 17262247 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array esv2763736,esv2764199 M 1109 115 105 CROCC,CROCCP2,CROCCP3,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 RW_0003,RW_0007,RW_0020,RW_0021,RW_0023,RW_0030,RW_0032,RW_0034,RW_0041,RW_0043,RW_0046,RW_0047,RW_0054,RW_0060,RW_0063,RW_0068,RW_0069,RW_0078,RW_0084,RW_0085,RW_0087,RW_0093,RW_0098,RW_0099,RW_0101,RW_0105,RW_0106,RW_0108,RW_0110,RW_0112,RW_0120,RW_0146,RW_0148,RW_0156,RW_0158,RW_0161,RW_0162,RW_0169,RW_0173,RW_0178,RW_0179,RW_0180,RW_0183,RW_0186,RW_0187,RW_0190,RW_0191,RW_0192,RW_0194,RW_0195,RW_0196,RW_0210,RW_0212,RW_0215,RW_0216,RW_0217,RW_0218,RW_0221,RW_0233,RW_0234,RW_0250,RW_0251,RW_0255,RW_0257,RW_0258,RW_0268,RW_0272,RW_0281,RW_0288,RW_0289,RW_0293,RW_0296,RW_0309,RW_0310,RW_0311,RW_0314,RW_0315,RW_0318,RW_0321,RW_0324,RW_0327,RW_0333,RW_0335,RW_0346,RW_0348,RW_0354,RW_0357,RW_0359,RW_0361,RW_0520,RW_0521,RW_0525,RW_0526,RW_0531,RW_0536,RW_0540,RW_0545,RW_0546,RW_0552,RW_0558,RW_0559,RW_0560,RW_0567,RW_0570,RW_0573,RW_0574,RW_0583,RW_0585,RW_0593,RW_0599,RW_0603,RW_0604,RW_0615,RW_0620,RW_0631,RW_0640,RW_0643,RW_0648,RW_0655,RW_0658,RW_0664,RW_0666,SW_0002,SW_0009,SW_0046,SW_0057,SW_0058,SW_0060,SW_0062,SW_0077,SW_0089,SW_0116,SW_0146,SW_0147,SW_0149,SW_0173,SW_0185,SW_0230,SW_0253,SW_0257,SW_0269,SW_0375,SW_0605,SW_0638,SW_0639,SW_0659,SW_0757,SW_0759,SW_0801,SW_0803,SW_0829,SW_0833,SW_0834,SW_0859,SW_0885,SW_1012,SW_1045,SW_1064,SW_1074,SW_1083,SW_1095,SW_1100,SW_1106,SW_1111,SW_1112,SW_1118,SW_1124,SW_1137,SW_1149,SW_1153,SW_1166,SW_1167,SW_1176,SW_1180,SW_1190,SW_1196,SW_1198,SW_1201,SW_1213,SW_1240,SW_1242,SW_1277,SW_1282,SW_1295,SW_1305,SW_1306,SW_1323,SW_1325,SW_1327,SW_1340,SW_1354,SW_1356,SW_1365,SW_1367,SW_1371,SW_1402,SW_1404,SW_1405,SW_1406,SW_1424,SW_1428,SW_1433,SW_1435,SW_1436,SW_1438,SW_1439,SW_1443,SW_1450,SW_1456,SW_1467,SW_1472,SW_1478,SW_1503,SW_1527 nsv5432346 1 16814079 16820760 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896616 M 3202 0 1 CROCCP3 esv3585340 1 16814143 16820729 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865431,essv9865432,essv9865430 M 2504 0 3 CROCCP3 NA21103,NA21104,NA21130 esv2678817 1 16814591 16963259 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6308194 M 1151 0 1 CROCCP2,CROCCP3,MIR3675,NBPF1 NA18528 esv3663102 1 16814828 16814828 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16485996 M 20 1 0 CROCCP3 esv3674502 1 16817700 16817701 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496256 M 20 0 0 CROCCP3 nsv1003019 1 16819621 16986839 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468388 M 11257 0 1 CROCCP2,MIR3675,MST1P2,NBPF1 dgv41n100 1 16819621 17048467 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006607,nsv1013208,nsv1010382,nsv1002854,nsv1002278,nsv1003672,nsv1007277,nsv999526,nsv1006305 M 11257 15 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 nsv6328461 1 16819696 16821095 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052798 M 19652 0 1 "" esv3585341 1 16819716 16821068 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865433 M 2504 0 1 "" HG03397 nsv5429087 1 16819722 16821060 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896627 M 3202 0 1 "" dgv46e59 1 16821265 16822463 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3429753,esv3359930 M 185 2 0 "" NA19239,NA19240 esv33046 1 16821558 17012524 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv97938,essv96254,essv95920,essv97341,essv101566,essv101730,essv95236,essv94690,essv98327,essv96456,essv101021 M 51 0 11 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 21603,21693,21772,21791,21837,21872,21879,21909,21911,22261,22371 nsv5828391 1 16821596 16829013 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457851 M 914 0 0 "" nsv5949885 1 16823668 16823668 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354143 M 914 1 0 "" nsv6331591 1 16824296 16826095 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052803 M 19652 0 1 "" nsv6322378 1 16824496 16827395 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201925 M 19652 1 0 "" dgv42n100 1 16828502 17225213 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012439,nsv1008791,nsv1005499 M 11257 0 3 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 esv3680674 1 16828714 16828862 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467152 M 20 0 1 "" nsv5416185 1 16828785 16832877 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896635 M 3202 0 1 "" nsv6317377 1 16828785 16832877 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18052808 M 19652 0 1 "" nsv1113082 1 16829217 16829279 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967973 M 2 0 1 "" KWS2 nsv5981576 1 16829289 16829348 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522067 M 405 0 1 "" dgv43n100 1 16830808 16970444 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014444,nsv1009058,nsv1008752,nsv1013868,nsv1006860,nsv1014927 M 11257 0 7 CROCCP2,MIR3675,NBPF1 dgv44n100 1 16830808 16986839 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012518,nsv1008952,nsv999004,nsv1013085,nsv1006306 M 11257 18 5 CROCCP2,MIR3675,MST1P2,NBPF1 nsv6555376 1 16831103 16831492 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247998 M 19652 0 0 "" dgv47e59 1 16831565 16843763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3380800,esv3385063,esv3383407,esv3342628,esv3431489 M 185 5 0 "" NA12878,NA12891,NA12892,NA19238,NA19240 dgv6n97 1 16831863 17011510 CNV duplication Lou_et_al_2014 25026903 SNP array nsv1156254,nsv1156268 M 131 2 0 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 dgv20n67 1 16831880 17106501 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv829636,nsv829614,nsv821699,nsv821710 M 31 4 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 NA18564,NA18570,NA18973,NA18997 nsv821511 1 16831880 17106501 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420247 M 1 1 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 NA10851 nsv829625 1 16831880 17281753 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1436329,nssv1434862,nssv1423407,nssv1437217,nssv1428017,nssv1428819,nssv1431796,nssv1423946,nssv1433412,nssv1423110,nssv1427247 M 31 11 0 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 AK10,AK12,AK20,AK8,NA18526,NA18542,NA18582,NA18942,NA18949,NA18968,NA18999 nsv5567477 1 16831910 16832371 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061544 M 35 0 1 "" HG00731 esv2744430 1 16832027 16849751 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6917430,essv6729619,essv6813170,essv6747780,essv6816585,essv6714246,essv6744936 M 96 0 7 "" SSM017,SSM043,SSM047,SSM055,SSM056,SSM077,SSM078 nsv5570661 1 16832167 16832370 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061545 M 35 0 1 "" HG00731 esv3367641 1 16832365 16836063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692016 M 185 1 0 "" NA19239 dgv47n106 1 16832500 16843500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1115338,nsv1128589 M 2 2 0 "" KWS1,KWS2 nsv1075366 1 16832599 16843300 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3772732 M 1 1 0 "" KWP1 esv29642 1 16833086 17125629 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv17374,esv11265,esv19804,esv20857,esv12183,esv16441,esv12048,esv20432,esv20185,esv18078,esv10634,esv13221,esv17891,esv15698,esv17903,esv18819 M 40 26 20 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 NA07045,NA11894,NA11931,NA11993,NA12004,NA12044,NA12156,NA12239,NA12287,NA12414,NA12489,NA12749,NA12828,NA12878,NA15510,NA18502,NA18505,NA18511,NA18517,NA18523,NA18858,NA18861,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv1154047 1 16833099 16843400 CNV duplication John_et_al_2014 26484159 Sequencing nssv4003323 M 1 1 0 "" KWB1 nsv954846 1 16833201 16843500 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003133 M 1 1 0 "" BILGI_BIOE dgv21e199 1 16833341 17001601 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2668944,esv2667810,esv2666304,esv2669650,esv2667669 M 1151 0 24 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 HG00123,HG00183,HG00236,HG00336,HG00344,HG00418,HG00427,HG00512,HG00608,HG00640,HG00651,HG00662,HG00698,HG00708,HG01082,HG01350,HG01488,NA18535,NA18574,NA18599,NA18636,NA19439,NA19463,NA19712 nsv5420640 1 16834395 16839495 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896636 M 3202 0 0 "" esv2744441 1 16834539 16836427 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6816585,essv6729619,essv6917430,essv6747780,essv6714246,essv6744936 M 96 0 6 "" SSM017,SSM043,SSM047,SSM055,SSM056,SSM078 esv2670550 1 16834562 16836315 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6518200,essv5681151,essv5853498,essv5489675,essv5971178,essv6434867,essv5731108,essv5441244,essv5787027,essv5639312,essv5614581,essv6159093,essv6378939,essv6388576,essv6166189,essv5667448,essv5893831,essv5914502,essv5820642,essv6210974,essv5983898,essv5411638,essv5673967,essv6316303,essv5721291,essv6027230,essv5723249,essv5648712,essv6239663,essv5720451,essv5473218,essv5761106,essv5662725,essv5975796,essv5910548,essv5875749,essv6121551,essv5884907,essv6297798,essv5769310,essv6284702,essv5655327,essv6100767,essv6003545,essv5400511,essv5878340,essv5818513,essv6457853,essv5473340,essv5816415,essv6476208 M 1151 0 51 "" HG01048,HG01098,HG01112,HG01251,HG01253,HG01254,HG01456,HG01494,HG01495,HG01521,HG01522,HG01550,NA06989,NA18553,NA18562,NA18965,NA19003,NA19172,NA19223,NA19315,NA19729,NA19732,NA19746,NA19747,NA19750,NA19758,NA19762,NA19773,NA19774,NA19780,NA19783,NA19785,NA19788,NA19985,NA20282,NA20287,NA20289,NA20291,NA20296,NA20322,NA20332,NA20334,NA20336,NA20340,NA20342,NA20346,NA20356,NA20530,NA20582,NA20757,NA20796 nsv955054 1 16834611 16836317 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000486 M 1 0 1 "" BILGI_BIOE esv3385457 1 16836565 16843763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692021 M 185 1 0 "" NA19239 nsv3320899 1 16839196 16850595 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14487374,nssv14474216,nssv14475261 M 14 3 0 "" CHM1,HG01352,HG02059 esv3585342 1 16842495 16859577 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9865434,essv9865435 M 2504 0 2 "" HG02360,HG02382 nsv5828601 1 16842749 16848920 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461995,nssv17463827 M 914 0 0 "" nsv5567290 1 16843395 16844201 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061552 M 35 0 1 "" HG00514 nsv3185176 1 16843395 16854741 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14442434 M 9 0 0 "" HG00733 nsv5828602 1 16843592 16844606 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465346,nssv17458677 M 914 0 0 "" nsv5828711 1 16843695 16845106 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459369,nssv17454489 M 914 0 0 "" nsv472863 1 16843750 16843750 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012769 M 9 1 0 "" NA18555 nsv5584025 1 16844226 16844557 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061554 M 35 0 1 "" NA12329 dgv45n100 1 16844920 17114700 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002636,nsv997565,nsv997605,nsv1003068,nsv998414,nsv1013347,nsv1002291,nsv1001395,nsv999128,nsv1007961,nsv999889,nsv1005752,nsv1005144 M 11257 31 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 nsv5418506 1 16850450 16854520 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896638 M 3202 0 1 "" nsv1001952 1 16851502 16945329 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471132,nssv3698800 M 11257 1 1 CROCCP2,MIR3675,NBPF1 nsv3170229 1 16851514 17005734 CNV duplication Fu_et_al_2018 29476164 SNP array nssv14252311,nssv14242712,nssv14241587 M 93 3 0 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 MLY_12,MLY_4,MLY_8 nsv3320902 1 16851596 16874895 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14483398,nssv14474654,nssv14480133,nssv14486700,nssv14486090,nssv14472098,nssv14488717,nssv14487566,nssv14478406,nssv14481054,nssv14472365,nssv14484375,nssv14473951 M 14 13 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv1076317 1 16854599 16865500 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762608 M 1 1 0 "" KWP1 dgv48e59 1 16854665 16864063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3429655,esv3421741,esv3407285,esv3441445 M 185 4 0 "" NA12878,NA12891,NA19238,NA19240 nsv1147347 1 16856699 16864000 CNV duplication John_et_al_2014 26484159 Sequencing nssv4000122 M 1 1 0 "" KWB1 dgv48n106 1 16856800 16865700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1132280,nsv1139474 M 2 2 0 "" KWS1,KWS2 nsv3211842 1 16857081 16897113 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261544,nssv14261545,nssv14261543 M 9 3 0 MIR3675,NBPF1 HG00732,NA19238,NA19239 dgv49e59 1 16857765 17002863 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3385432,esv3387438,esv3326076,esv3413552,esv3442238 M 185 5 0 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 NA12878,NA12891,NA12892,NA19238,NA19239 nsv6047682 1 16863851 16863851 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527491 M 405 1 0 "" nsv4761144 1 16863860 16863860 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16268062 M 25 1 0 "" nsv5678633 1 16863868 16863868 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17177076,nssv17205662 M 3202 2 0 "" nsv6256324 1 16863868 16863868 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17859086 M 1021 1 0 "" nsv5397757 1 16863868 16863919 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896640 M 3202 1 0 "" nsv4758018 1 16863946 17062566 OTHER inversion Quan_et_al_2021 34034800 Sequencing nssv16271828 M 25 0 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv49n106 1 16864300 17000900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1124562,nsv1132281 M 2 2 0 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 KWS1,KWS2 nsv4743168 1 16864511 16998460 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16293669 M 25 0 1 CROCCP2,MIR3675,MST1P2,NBPF1 dgv50e59 1 16864565 16874463 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3434952,esv3432763 M 185 2 0 "" NA12892,NA19240 esv3577752 1 16865795 17286266 CNV loss Uddin_et_al_2014 25503493 SNP array essv9800533,essv9801200,essv9800977,essv9800422,essv9800644,essv9800311,essv9800755,essv9801089,essv9800866 M 873 0 9 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 400205SP,400285FA,400352CA,400863SS,401012TP,401027KW,401288LD,401506LK,401517PR nsv834203 1 16866144 16910121 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443240,nssv1443251,nssv1443129,nssv1443140,nssv1443151,nssv1443162,nssv1443173,nssv1443229,nssv1443185,nssv1443196,nssv1443207,nssv1443218 M 95 0 12 MIR3675,NBPF1 nsv5616223 1 16866186 16866186 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061563 M 35 1 0 "" HG03065 nsv6052130 1 16866186 16866186 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527292 M 405 1 0 "" nsv3051625 1 16866193 16866193 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020014 M 2 1 0 "" NA12878 nsv3320062 1 16866204 16866204 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14478122 M 14 1 0 "" NA12878 nsv5421914 1 16866879 17002879 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896641 M 3202 0 0 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 nsv6316459 1 16866996 16868395 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201934 M 19652 1 0 "" nsv1077282 1 16866999 16881400 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762392 M 1 1 0 MIR3675 KWP1 nsv4503904 1 16867000 16883900 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780848,nssv15780842,nssv15780844,nssv15780847,nssv15780846,nssv15780843,nssv15780845,nssv15780837,nssv15780836,nssv15780839,nssv15780841,nssv15780840,nssv15780838 M 10847 0 0 MIR3675 nsv1152149 1 16867199 16994000 CNV duplication John_et_al_2014 26484159 Sequencing nssv3996757 M 1 1 0 CROCCP2,MIR3675,MST1P2,NBPF1 KWB1 nsv954847 1 16867201 16909200 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003134 M 1 1 0 MIR3675,NBPF1 BILGI_BIOE nsv5580372 1 16868195 16868272 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061564 M 35 0 1 "" NA19650 nsv5577161 1 16868341 16870577 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061565 M 35 0 1 "" HG03732 nsv5573749 1 16869018 16869113 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061566 M 35 0 1 "" HG03065 nsv3046088 1 16869023 16869145 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14029813 M 2 0 1 "" NA12878 nsv1116446 1 16869672 17191473 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3978627 M 2 0 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 KWS2 nsv6317122 1 16870196 16879095 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201935 M 19652 1 0 MIR3675 dgv46n100 1 16871266 16969988 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001753,nsv1007618,nsv1013756 M 11257 4 0 CROCCP2,MIR3675,NBPF1 dgv47n100 1 16871266 16970444 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010358,nsv1006638,nsv1006099,nsv1006436,nsv999682,nsv1010074,nsv1005136 M 11257 28 40 CROCCP2,MIR3675,NBPF1 dgv48n100 1 16871266 17005966 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001617,nsv998751,nsv1003878,nsv1010727 M 11257 70 15 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 dgv49n100 1 16871266 17037085 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010269,nsv1005045 M 11257 0 2 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv50n100 1 16871266 17048467 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1007096,nsv1006615,nsv1014352,nsv1010976,nsv1006444,nsv998027,nsv998387,nsv1003580,nsv1011759,nsv998882,nsv1004005,nsv1004053,nsv1009886,nsv1010594,nsv1009214,nsv1007868,nsv1009923,nsv1005327 M 11257 52 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 nsv1004807 1 16871266 17048467 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3698841,nssv3481280,nssv3698840,nssv3480143,nssv3468750,nssv3473766,nssv3476359,nssv3477919,nssv3478560,nssv3468826,nssv3478386,nssv3476305,nssv3465901,nssv3474409,nssv3481898,nssv3475762,nssv3470380,nssv3480403,nssv3482004,nssv3463008,nssv3463963,nssv3470590,nssv3472288,nssv3479470,nssv3465243,nssv3464998,nssv3463087,nssv3469069,nssv3466295,nssv3474865,nssv3465762,nssv3477768,nssv3471542,nssv3469188,nssv3475171,nssv3465078,nssv3464100,nssv3466840,nssv3479728,nssv3476612,nssv3471748 M 11257 39 2 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv51n100 1 16871266 17114700 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013819,nsv1001344,nsv1009098,nsv1000693,nsv1011045 M 11257 0 5 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv52n100 1 16871266 17114700 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003927,nsv1010821,nsv1006241 M 11257 12 4 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv53n100 1 16871266 17177953 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010634,nsv998951,nsv1007622,nsv999991 M 11257 0 4 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv54n100 1 16871266 17214810 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008201,nsv1011684,nsv1006764,nsv1002009,nsv999605,nsv1009896 M 11257 11 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv55n100 1 16871266 17276229 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013996,nsv1000023,nsv1009019,nsv999140,nsv999702,nsv1004542,nsv1006011,nsv1014932 M 11257 42 8 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 nsv1161246 1 16871278 16943613 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4029662 M 369 1 0 MIR3675,NBPF1 nsv6547805 1 16871455 17054819 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248001 M 19652 0 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 nsv4038598 1 16872358 16872412 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848770 M 10847 0 1 "" esv3429389 1 16874765 16895863 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692033 M 185 1 0 MIR3675,NBPF1 NA19240 nsv5584420 1 16874817 16875022 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061569 M 35 0 1 "" HG00514 nsv3320903 1 16876696 16888395 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14472612,nssv14483493,nssv14476378 M 14 3 0 "" CHM13,HG00268,HG02059 nsv499577 1 16879365 17006969 OTHER inversion Kidd_et_al_2010b 21111241 Sequencing nssv585483 M 9 0 0 CROCCP2,LOC729574,MST1P2,NBPF1 nsv1077283 1 16881799 17000800 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3766021 M 1 1 0 CROCCP2,LOC729574,MST1P2,NBPF1 KWP1 nsv5672450 1 16882081 16904083 OTHER inversion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061571 M 35 0 0 NBPF1 HG00731 nsv4534434 1 16884195 16884196 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028675 M 10847 1 0 "" nsv5533953 1 16884197 16884247 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896642 M 3202 1 0 "" nsv6048614 1 16884299 16884299 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520973 M 405 1 0 "" nsv5615790 1 16884435 16884435 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061574 M 35 1 0 "" HG00864 nsv5617559 1 16884482 16884482 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061575 M 35 1 0 "" HG00864 nsv7173 1 16885574 17264314 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9682,nssv11237,nssv1777,nssv10523,nssv5314,nssv929,nssv5304,nssv747,nssv10890,nssv1903,nssv10882,nssv9405,nssv1863,nssv3885,nssv10507,nssv1893,nssv9691,nssv9949,nssv657,nssv3861,nssv3851,nssv5331,nssv1910,nssv10485,nssv9355,nssv6334 M 9 0 0 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 NA12156,NA12878,NA15510,NA18507,NA18517,NA18555,NA18956,NA19129,NA19240 nsv3632 1 16885846 16920424 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9681,nssv3801,nssv11241,nssv5295,nssv564,nssv6260,nssv2682 M 9 7 0 NBPF1 NA12156,NA12878,NA15510,NA18507,NA18555,NA19129,NA19240 dgv56n100 1 16886123 16970444 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012484,nsv997666,nsv1000986,nsv1004437,nsv1010184 M 11257 0 6 CROCCP2,NBPF1 nsv834247 1 16886563 16997171 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1443262,nssv1443273,nssv1443284,nssv1443296,nssv1443307,nssv1443318,nssv1443329,nssv1443340,nssv1443362,nssv1443373,nssv1443384,nssv1443351 M 95 1 11 CROCCP2,MST1P2,NBPF1 nsv3219590 1 16887670 16896776 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261573,nssv14261576,nssv14261574,nssv14261571,nssv14261575,nssv14261572 M 9 6 0 NBPF1 HG00513,HG00514,HG00731,HG00733,NA19238,NA19239 nsv221 1 16888296 16891688 CNV insertion Tuzun_et_al_2005 15895083 BAC aCGH,PCR,Sequencing nssv221 M 1 1 0 NBPF1 NA15510 nsv5566930 1 16889997 16890251 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061718 M 35 0 1 NBPF1 NA19240 nsv471343 1 16890412 16918689 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv548026,nssv548025,nssv548027 M 3 3 0 NBPF1 JDW,NA18507,YH nsv471344 1 16890412 16939982 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv548029,nssv548030,nssv548028 M 3 3 0 NBPF1 JDW,NA18507,YH nsv482190 1 16890412 16939982 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558551 M 1 1 0 NBPF1 KB1 nsv945569 1 16890507 16892064 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569035,nssv2569066,nssv2569015,nssv2568985,nssv2569033,nssv2568973,nssv2569030,nssv2568989,nssv2569018,nssv2568993,nssv2569009,nssv2569057,nssv2569024,nssv2569056,nssv2569025,nssv2568984,nssv2569045,nssv2569004,nssv2569041,nssv2568992,nssv2569028,nssv2569053,nssv2569027,nssv2568995,nssv2569012,nssv2569006,nssv2569038,nssv2569008,nssv2569022,nssv2569048,nssv2569039,nssv2568975,nssv2569037,nssv2569001,nssv2569013,nssv2568983,nssv2569031,nssv2568981,nssv2569044,nssv2569050,nssv2569034,nssv2569051,nssv2569023,nssv2569005,nssv2569026,nssv2569058,nssv2569029,nssv2568997,nssv2569014,nssv2568994,nssv2569040,nssv2569062,nssv2569020,nssv2569059,nssv2569016,nssv2569052,nssv2569042,nssv2568991,nssv2569017,nssv2568986,nssv2569019,nssv2569068,nssv2569036,nssv2568982,nssv2569011,nssv2569063,nssv2568980,nssv2569060,nssv2568972,nssv2568987,nssv2568979,nssv2569069,nssv2568970,nssv2569002,nssv2569055,nssv2569007,nssv2568971,nssv2568996,nssv2569061,nssv2568969,nssv2569064,nssv2568990,nssv2569000,nssv2568998,nssv2569003,nssv2569067,nssv2569049,nssv2569047,nssv2568978,nssv2569046,nssv2568976,nssv2568974 M 97 10 0 NBPF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3532712 1 16890650 16890650 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392057,nssv14438763,nssv14412744 M 9 3 0 NBPF1 HG00514,HG00733,NA19240 nsv3225002 1 16890650 16897113 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14270440,nssv14270438,nssv14270439 M 9 3 0 NBPF1 HG00512,HG00732,NA19240 dgv119n152 1 16890650 16919392 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3214834,nsv3211052 M 9 5 0 NBPF1 HG00512,HG00514,HG00732,HG00733,NA19238 nsv3230123 1 16890650 17012724 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14268134,nssv14268133 M 9 2 0 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 HG00733,NA19239 nsv5616386 1 16891008 16891008 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061719 M 35 1 0 NBPF1 HG00864 nsv957837 1 16891138 16893611 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3004997 M 1 0 1 NBPF1 BILGI_BIOE nsv5981731 1 16891341 16891402 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527501 M 405 0 1 NBPF1 nsv514916 1 16891448 16893975 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2851730,nssv2852962,nssv2853158,nssv2851690,nssv2851794,nssv2852993,nssv2853015,nssv2853094,nssv2851713,nssv2853196,nssv2851617,nssv2852932,nssv2852952,nssv2853030,nssv2851787,nssv2853159,nssv2852928,nssv2851632,nssv2853183,nssv2851774,nssv2853115,nssv2852977,nssv2851770,nssv2851638,nssv2851719,nssv2853070,nssv2853176,nssv2853155,nssv2851670,nssv2853172,nssv2852968,nssv2851662,nssv2851652,nssv2851735,nssv2851782,nssv2851766,nssv2852959,nssv2851808,nssv2851723,nssv2852990,nssv2851674,nssv2851724,nssv2851643,nssv2851660,nssv2851762,nssv2853069,nssv2851801,nssv2851615,nssv2853080,nssv2852996,nssv2853045,nssv2853133,nssv2852978,nssv2853107,nssv2853128,nssv2851684,nssv2853154,nssv2851708,nssv2853145,nssv2852923,nssv2853123,nssv2853134,nssv2853068,nssv2853136,nssv2853207,nssv2851628,nssv2853051,nssv2851621,nssv2851732,nssv2853150,nssv2853067,nssv2853114,nssv2853057,nssv2853049,nssv2852938,nssv2853008,nssv2853163,nssv2853000,nssv2853111,nssv2851626,nssv2853203,nssv2852964,nssv2852989,nssv2853096,nssv2851718,nssv2853132,nssv2851728,nssv2851736,nssv2853162,nssv2851790,nssv2851780,nssv2853106,nssv2853182,nssv2851769,nssv2851693,nssv2851681,nssv2853101,nssv2853113,nssv2851733,nssv2852957,nssv2851727,nssv2852943,nssv2853188,nssv2852981,nssv2851791,nssv2853105,nssv2851686,nssv2851737,nssv2851759,nssv2853118,nssv2852999,nssv2851695,nssv2852961,nssv2851806,nssv2851725,nssv2851623,nssv2851620,nssv2852995,nssv2853089,nssv2852950,nssv2852992,nssv2851657,nssv2851795,nssv2851772,nssv2851721,nssv2851706,nssv2853055,nssv2852954,nssv2853122,nssv2853040,nssv2853184,nssv2853166,nssv2852937,nssv2853152,nssv2851764,nssv2851669,nssv2853059,nssv2853007,nssv2851741,nssv2851786,nssv2851716,nssv2852933,nssv2851777,nssv2852940,nssv2852994,nssv2853039,nssv2853052,nssv2853026,nssv2852979,nssv2851813,nssv2851768,nssv2853137,nssv2851773,nssv2851751,nssv2852924,nssv2852980,nssv2853169,nssv2851703,nssv2853117,nssv2851650,nssv2851633,nssv2853056,nssv2852982,nssv2853151,nssv2851647,nssv2853160,nssv2853195,nssv2851761,nssv2851648,nssv2853019,nssv2851815,nssv2851811,nssv2851685,nssv2851726,nssv2853084,nssv2851812,nssv2853025,nssv2853021,nssv2851765,nssv2851789,nssv2853116,nssv2851778,nssv2853149,nssv2851692,nssv2851640,nssv2851700,nssv2853003,nssv2853042,nssv2852949,nssv2853001,nssv2851799,nssv2852965,nssv2853048,nssv2853088,nssv2853131,nssv2853121,nssv2853022,nssv2851630,nssv2851631,nssv2851802,nssv2853078,nssv2851687,nssv2851672,nssv2851697,nssv2853204,nssv2853140,nssv2851641,nssv2853023,nssv2853083,nssv2853053,nssv2851634,nssv2853103,nssv2853006,nssv2851629,nssv2853028,nssv2851755,nssv2851752,nssv2851717,nssv2851711,nssv2851691,nssv2853092,nssv2851682,nssv2851619,nssv2851750,nssv2851651,nssv2851702,nssv2851779,nssv2851639,nssv2853167,nssv2851805,nssv2852958,nssv2853180,nssv2853173,nssv2853011,nssv2853138,nssv2852987,nssv2851667,nssv2853144,nssv2851776,nssv2853175,nssv2853081,nssv2853075,nssv2851665,nssv2851810,nssv2852939,nssv2852927,nssv2851796,nssv2851744,nssv2853085,nssv2852930,nssv2851740,nssv2853198,nssv2852948,nssv2853143,nssv2853014,nssv2852926,nssv2851792,nssv2853161,nssv2851754,nssv2852951,nssv2853004,nssv2851749,nssv2851699,nssv2852944,nssv2851800,nssv2853108,nssv2851688,nssv2852975,nssv2853066,nssv2851758,nssv2852985,nssv2851738,nssv2853141,nssv2853170,nssv2853058,nssv2851664,nssv2852969,nssv2853178,nssv2852967,nssv2853005,nssv2853098,nssv2852946,nssv2853200,nssv2851637,nssv2853119,nssv2852984,nssv2853024,nssv2853100,nssv2851701,nssv2853044,nssv2853146,nssv2851709,nssv2853077,nssv2853120,nssv2852986,nssv2853110,nssv2851763,nssv2851785,nssv2851767,nssv2851705,nssv2853072,nssv2853171,nssv2851614,nssv2853037,nssv2853060,nssv2851807,nssv2851677,nssv2851613,nssv2852929,nssv2853071,nssv2852942,nssv2852935,nssv2853097,nssv2852925,nssv2851683,nssv2851715,nssv2853076,nssv2851707,nssv2853130,nssv2851618,nssv2853035,nssv2851771,nssv2851798,nssv2851675,nssv2853202,nssv2852960,nssv2853050,nssv2853016,nssv2851663,nssv2852970,nssv2853032,nssv2853129,nssv2853064,nssv2851671,nssv2851814,nssv2853086,nssv2853012,nssv2853157,nssv2853065,nssv2851658,nssv2851689,nssv2852941,nssv2853142,nssv2853206,nssv2853033,nssv2851646,nssv2853087,nssv2853002,nssv2851679,nssv2851775,nssv2853062,nssv2853201,nssv2853164,nssv2851676,nssv2852931,nssv2851680,nssv2853185,nssv2851745,nssv2852947,nssv2853061,nssv2851710,nssv2851803,nssv2853079,nssv2853036,nssv2852991,nssv2853099,nssv2853125,nssv2851624,nssv2851753,nssv2852953,nssv2852971,nssv2853197,nssv2853013,nssv2853102,nssv2853038,nssv2851666,nssv2853168,nssv2852955,nssv2852997,nssv2853186,nssv2853174,nssv2852983,nssv2851797,nssv2852956,nssv2851642,nssv2853191,nssv2853017,nssv2851712,nssv2853112,nssv2852988,nssv2851734,nssv2853148,nssv2853192,nssv2851661,nssv2851655,nssv2851696,nssv2853205,nssv2853031,nssv2853177,nssv2851747,nssv2851659,nssv2853124,nssv2853074,nssv2851760,nssv2851678,nssv2853104,nssv2851756,nssv2851793,nssv2852974,nssv2851616,nssv2851673,nssv2853010,nssv2853027,nssv2853109,nssv2851694,nssv2851757,nssv2852945,nssv2853020,nssv2853189,nssv2852934,nssv2851748,nssv2853054,nssv2852973,nssv2853194,nssv2853082,nssv2851809,nssv2853135,nssv2853046,nssv2853043,nssv2852966,nssv2851698,nssv2851645,nssv2851654,nssv2852976,nssv2851722,nssv2852998,nssv2851627,nssv2851743,nssv2851731,nssv2853095,nssv2851729,nssv2853018,nssv2852963,nssv2852972,nssv2853193,nssv2851656,nssv2851783,nssv2851622,nssv2853063,nssv2853029,nssv2851784,nssv2853127,nssv2853126,nssv2851635,nssv2853156,nssv2851714,nssv2853009,nssv2853190,nssv2851720,nssv2853153,nssv2851781,nssv2853073,nssv2853165,nssv2853093,nssv2851644,nssv2853147,nssv2851636,nssv2853179,nssv2853091,nssv2853139,nssv2851653,nssv2851739,nssv2851746,nssv2851668,nssv2853047,nssv2853187,nssv2851704,nssv2852936,nssv2851649,nssv2853199,nssv2851804,nssv2851788,nssv2853041,nssv2853181,nssv2853034,nssv2853090,nssv2851742,nssv2851625 M 2366 488 0 NBPF1 NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10851,NA10852,NA10855,NA10856,NA10857,NA10859,NA10860,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12043,NA12044,NA12045,NA12056,NA12058,NA12144,NA12145,NA12146,NA12154,NA12155,NA12156,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12329,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12414,NA12485,NA12489,NA12546,NA12708,NA12716,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18518,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19107,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19177,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21310,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21404,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21512,NA21513,NA21514,NA21522,NA21523,NA21524,NA21525,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21717,NA21718 nsv945570 1 16892064 16893680 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2569081,nssv2569078,nssv2569073,nssv2569096,nssv2569992,nssv2569991,nssv2569080,nssv2569983,nssv2569071,nssv2569085,nssv2569072,nssv2569077,nssv2569134,nssv2569102,nssv2569119,nssv2569107,nssv2569982,nssv2569994,nssv2569122,nssv2570006,nssv2569980,nssv2569095,nssv2569136,nssv2569079,nssv2569130,nssv2569090,nssv2569118,nssv2569101,nssv2569123,nssv2569093,nssv2569121,nssv2569984,nssv2569979,nssv2569990,nssv2569115,nssv2569997,nssv2569126,nssv2569104,nssv2569975,nssv2569097,nssv2569974,nssv2569110,nssv2569127,nssv2569099,nssv2569116,nssv2569993,nssv2569114,nssv2569092,nssv2569113,nssv2569084,nssv2569111,nssv2569100,nssv2569133,nssv2569996,nssv2569977,nssv2570003,nssv2569129,nssv2569094,nssv2569135,nssv2570004,nssv2569128,nssv2570001,nssv2569976,nssv2569999,nssv2569137,nssv2569103,nssv2569981,nssv2569986,nssv2569132,nssv2569083,nssv2569117,nssv2569082,nssv2569124,nssv2569086,nssv2569112,nssv2569985,nssv2569125,nssv2569091,nssv2569106,nssv2569108,nssv2569988,nssv2569070,nssv2569074,nssv2569998,nssv2569987,nssv2569089,nssv2569105,nssv2570002,nssv2569995,nssv2570005,nssv2569088,nssv2569075 M 97 10 0 NBPF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1145322 1 16892216 16892279 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982417 M 2 0 1 NBPF1 KWS1 dgv120n152 1 16892277 16893847 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3173842,nsv3182638 M 9 0 0 NBPF1 HG00514,HG00733 nsv3952169 1 16892279 16892279 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191272 M 1 1 0 NBPF1 HG002 nsv5621548 1 16892279 16892279 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061720 M 35 1 0 NBPF1 HG02011 nsv2801054 1 16892280 16892280 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683987 M 2 1 0 NBPF1 nsv3320066 1 16892280 16892280 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491092,nssv14479987,nssv14488093,nssv14490311,nssv14479281,nssv14474577,nssv14487079,nssv14485307 M 14 8 0 NBPF1 CHM13,HG00514,HG00733,HG01352,HG04217,HX1,NA12878,NA19240 esv3419518 1 16892299 16892299 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8808928 M 185 1 0 NBPF1 NA12878 nsv435932 1 16892389 16892507 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465620 M 2 1 0 NBPF1 NA15510 nsv159149 1 16892493 16894030 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177727 M 24 NBPF1 nsv5606333 1 16892580 16892580 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061053 M 35 1 0 NBPF1 HG00512 nsv436039 1 16892689 16892745 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465731 M 2 1 0 NBPF1 NA15510 nsv945571 1 16893680 16894518 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570093,nssv2570015,nssv2570076,nssv2570007,nssv2570089,nssv2570098,nssv2570090,nssv2570027,nssv2570068,nssv2570019,nssv2570067,nssv2570013,nssv2570074,nssv2570056,nssv2570060,nssv2570014,nssv2570082,nssv2570039,nssv2570091,nssv2570043,nssv2570062,nssv2570025,nssv2570083,nssv2570032,nssv2570080,nssv2570036,nssv2570079,nssv2570053,nssv2570086,nssv2570102,nssv2570071,nssv2570028,nssv2570070,nssv2570100,nssv2570073,nssv2570042,nssv2570065,nssv2570038,nssv2570085,nssv2570016,nssv2570069,nssv2570034,nssv2570063,nssv2570058,nssv2570064,nssv2570010,nssv2570081,nssv2570096,nssv2570095,nssv2570009,nssv2570061,nssv2570017,nssv2570087,nssv2570054,nssv2570084,nssv2570035,nssv2570094,nssv2570012,nssv2570078,nssv2570031,nssv2570075,nssv2570026,nssv2570072,nssv2570037,nssv2570092,nssv2570049,nssv2570021,nssv2570106,nssv2570030,nssv2570059,nssv2570105,nssv2570041,nssv2570029,nssv2570097,nssv2570023,nssv2570040,nssv2570020,nssv2570051,nssv2570103,nssv2570048,nssv2570045,nssv2570046,nssv2570052,nssv2570057,nssv2570047,nssv2570018,nssv2570101,nssv2570008,nssv2570107,nssv2570104,nssv2570024,nssv2570050 M 97 10 0 NBPF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945572 1 16895122 16920861 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570194,nssv2570139,nssv2570119,nssv2570191,nssv2570112,nssv2570124,nssv2570118,nssv2570114,nssv2570111,nssv2570123,nssv2570109,nssv2570144,nssv2570151,nssv2570190,nssv2570155,nssv2570134,nssv2570160,nssv2570128,nssv2570149,nssv2570189,nssv2570171,nssv2570117,nssv2570180,nssv2570130,nssv2570157,nssv2570136,nssv2570162,nssv2570140,nssv2570169,nssv2570127,nssv2570172,nssv2570148,nssv2570163,nssv2570142,nssv2570164,nssv2570141,nssv2570184,nssv2570195,nssv2570178,nssv2570146,nssv2570175,nssv2570116,nssv2570179,nssv2570186,nssv2570153,nssv2570126,nssv2570161,nssv2570185,nssv2570170,nssv2570125,nssv2570167,nssv2570113,nssv2570158,nssv2570147,nssv2570181,nssv2570129,nssv2570152,nssv2570193,nssv2570174,nssv2570137,nssv2570156,nssv2570145,nssv2570166,nssv2570188,nssv2570173,nssv2570122,nssv2570177,nssv2570115,nssv2570150,nssv2570120,nssv2570168,nssv2570108,nssv2570183,nssv2570133,nssv2570159,nssv2570192,nssv2570182,nssv2570135,nssv2570138,nssv2570131 M 97 10 0 NBPF1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv545643 1 16895276 16945358 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710843 M 17421 0 1 CROCCP2,NBPF1 esv34697 1 16895276 17045646 CNV gain Pinto_et_al_2007 17911159 SNP array essv6990378,essv6986884,essv6979544 M 771 3 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 NA18570 esv3444386 1 16896365 16976563 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692035 M 185 1 0 CROCCP2,MST1P2,NBPF1 NA19240 nsv3532949 1 16897113 16897113 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379599,nssv14270462 M 9 1 0 NBPF1 NA19240 nsv3743 1 16899499 16945621 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv835,nssv3842 M 9 0 2 CROCCP2,NBPF1 NA12878,NA19240 nsv3321138 1 16901596 16961895 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14476925,nssv14485249,nssv14488680,nssv14479803,nssv14486561,nssv14474847,nssv14480379,nssv14480936,nssv14472598,nssv14473307,nssv14480769,nssv14475980,nssv14485117 M 14 13 0 CROCCP2,NBPF1 CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv3549677 1 16902312 16908903 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9748424 M 767 0 1 NBPF1 nsv5571158 1 16906424 16912719 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061059 M 35 0 1 NBPF1 NA18534 dgv1n16 1 16908693 16915645 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nsv436307,nsv435920 M 2 0 2 NBPF1 NA15510,NA18505 dgv57n100 1 16909597 16970166 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006221,nsv1014127 M 11257 0 3 CROCCP2,NBPF1 dgv58n100 1 16909597 16986839 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000320,nsv1003821,nsv1006493,nsv1004735,nsv1013966 M 11257 14 16 CROCCP2,MST1P2,NBPF1 nsv1008129 1 16909597 17012773 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475183,nssv3466515 M 11257 1 1 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 dgv59n100 1 16909597 17022269 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006458,nsv1001891,nsv1006137,nsv1011340,nsv1008114 M 11257 6 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv60n100 1 16909597 17030233 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013734,nsv997399 M 11257 0 2 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv61n100 1 16909597 17048467 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006602,nsv1010704,nsv999541,nsv1011002,nsv999929 M 11257 32 7 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 dgv62n100 1 16909597 17094054 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998373,nsv1009059,nsv1005218,nsv1005387,nsv1007115 M 11257 8 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 dgv63n100 1 16909597 17283075 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013560,nsv1002158,nsv1012664,nsv1012813,nsv1003788,nsv1006712,nsv999319,nsv1008466,nsv1004375,nsv1011167,nsv1013554,nsv1015052,nsv1002264,nsv1006276,nsv1005462 M 11257 22 0 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 nsv954848 1 16910001 17028700 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003135 M 1 1 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 BILGI_BIOE nsv160674 1 16910755 16917058 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179252 M 24 NBPF1 nsv6538766 1 16914631 17035113 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248013 M 19652 0 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 nsv3321330 1 16915696 16930695 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14477077 M 14 1 0 NBPF1 CHM13 nsv1113083 1 16916979 16917029 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967974 M 2 0 1 NBPF1 KWS2 nsv5675015 1 16918646 16918646 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17179069 M 3202 1 0 NBPF1 nsv5407282 1 16918646 16918697 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896643 M 3202 1 0 NBPF1 esv2744463 1 16919364 16919501 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6941785 M 96 0 1 NBPF1 SSM023 esv2597795 1 16922530 16968438 CNV gain McKernan_et_al_2009 19546169 Sequencing essv5337771 M 1 1 0 CROCCP2,NBPF1 NA18507 dgv64n100 1 16923000 16970444 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013386,nsv1004732,nsv1004813 M 11257 0 6 CROCCP2,NBPF1 nsv998073 1 16923000 16970444 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473772,nssv3471934,nssv3463501,nssv3476266,nssv3698883,nssv3474789,nssv3470797,nssv3479724 M 11257 1 7 CROCCP2,NBPF1 dgv65n100 1 16923000 17114700 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997416,nsv1001363,nsv1002975,nsv1008595,nsv1009781,nsv1013754,nsv1005235 M 11257 9 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 nsv469795 1 16923240 17010093 CNV gain+loss Locke_et_al_2006 16826518 BAC aCGH nssv1675283,nssv1676350,nssv1672656,nssv1673449,nssv1675328,nssv1675165,nssv1672101,nssv1676473,nssv1675154,nssv1674737,nssv1674026,nssv1673830,nssv1673706,nssv1673678,nssv1672635,nssv1675645,nssv1675030,nssv1676452,nssv1674398,nssv1673729,nssv1672126,nssv1675644,nssv1673154,nssv1674594,nssv1674352,nssv1676595,nssv1675110,nssv1674196,nssv1675471,nssv1673571,nssv1672293,nssv1675262,nssv1675932,nssv1675019,nssv1673499,nssv1672511,nssv1675604,nssv1673422,nssv1673599,nssv1673029,nssv1672065,nssv1674269,nssv1676098,nssv1676008,nssv1674784,nssv1672226 M 265 45 1 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 nsv471655 1 16923241 17010093 CNV gain+loss Sharp_et_al_2005 15918152 BAC aCGH,FISH nssv550580,nssv550599,nssv550595,nssv550577,nssv550578,nssv550593,nssv550592,nssv550571,nssv550575,nssv550572,nssv550591,nssv550581,nssv550573,nssv550597,nssv550582,nssv550576,nssv550594,nssv550587,nssv550588,nssv550596,nssv550574,nssv550579,nssv550589,nssv550585,nssv550590,nssv550584,nssv550598,nssv550586,nssv550583 M 48 2 27 CROCCP2,LOC729574,MIR3675,MST1P2,NBPF1 JK1051A,JK1058B,JK776,NA10469,NA10494,NA10495,NA10496,NA10967,NA10969,NA10976,NA10979,NA11521,NA11523,NA15724,NA15725,NA15726,NA15728,NA15730,NA15731,NA15732,NA15733,NA17014,NA17015,NA17016,NA17020,NA17051,NA17052,NA17059,P86GA nsv3114785 1 16924285 17201782 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nssv14104808 M 467 1 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 sample52 dgv66n100 1 16926136 17048467 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011696,nsv1004276,nsv1004345,nsv1004477,nsv1007267,nsv1007303 M 11257 11 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 nsv999755 1 16931317 16986839 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3462973 M 11257 1 0 CROCCP2,MST1P2,NBPF1 dgv121n152 1 16934633 17186151 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3229631,nsv3229650,nsv3224554 M 9 8 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2,NBPF1 HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 dgv67n100 1 16935944 16986839 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013795,nsv1013907 M 11257 7 2 CROCCP2,MST1P2,NBPF1 dgv68n100 1 16935944 17022269 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997494,nsv998431,nsv1001028 M 11257 4 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2,NBPF1 nsv3217944 1 16939632 16948083 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14274688 M 9 1 0 CROCCP2,NBPF1 HG00732 nsv3200490 1 16942696 16955075 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14253497 M 9 0 1 CROCCP2 NA19239 dgv69n100 1 16943601 16970444 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997712,nsv1008125 M 11257 0 3 CROCCP2 dgv70n100 1 16943601 17114700 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002493,nsv1001392,nsv1012231,nsv1011567 M 11257 7 8 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2 nsv3854 1 16945141 16964571 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3870 M 9 1 0 CROCCP2 NA12878 nsv3321331 1 16945296 16978395 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14485817 M 14 1 0 CROCCP2,MST1P2 CHM13 nsv3050258 1 16945790 16947679 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14033554 M 2 0 1 CROCCP2 NA12878 nsv5969911 1 16945792 17278449 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17359444 M 914 0 0 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2 nsv3539279 1 16947159 16947159 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375301 M 9 1 0 CROCCP2 NA19240 esv29948 1 16948127 17257997 CNV loss Wheeler_et_al_2008 18421352 Oligo aCGH,Sequencing essv84187 M 3 0 1 CROCC,CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2 WATSON dgv21n67 1 16953076 17106501 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821721,nsv821732 M 31 2 0 CROCCP2,ESPNP,LOC729574,MIR3675,MST1L,MST1P2 AK14,NA18547 nsv1006849 1 16953759 16970444 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477604,nssv3471099,nssv3475522,nssv3463231 M 11257 2 2 CROCCP2 nsv1003602 1 16953759 16986839 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464884,nssv3470239 M 11257 0 2 CROCCP2,MST1P2 dgv71n100 1 16953759 17012773 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013865,nsv1009664 M 11257 0 2 CROCCP2,LOC729574,MIR3675,MST1P2 dgv72n100 1 16953759 17048467 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1015120,nsv1002033,nsv1003822,nsv999674 M 11257 13 5 CROCCP2,ESPNP,LOC729574,MIR3675,MST1P2 nsv1156270 1 16954295 17005734 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4019261 M 131 1 0 CROCCP2,LOC729574,MST1P2 nsv5981672 1 16955840 16956006 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528864 M 405 0 1 CROCCP2 nsv5623173 1 16956151 16956151 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061074 M 35 1 0 CROCCP2 HG00513 nsv5608354 1 16956449 16956449 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061282 M 35 1 0 CROCCP2 HG00513 nsv5607322 1 16956521 16956521 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061283 M 35 1 0 CROCCP2 HG00513 nsv5621402 1 16960751 16960751 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061285 M 35 1 0 "" HG00513 nsv5620229 1 16961908 16961908 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061286 M 35 1 0 "" HG00513 nsv1113084 1 16962726 16962791 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967975 M 2 0 1 "" KWS2 nsv1004433 1 16963301 16986839 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469087,nssv3698902,nssv3466938,nssv3698901,nssv3478593,nssv3465301,nssv3470088,nssv3471766 M 11257 2 6 MST1P2 dgv73n100 1 16963301 17012773 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1013392,nsv1002286 M 11257 2 0 LOC729574,MIR3675,MST1P2 dgv74n100 1 16963301 17114700 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014092,nsv997837,nsv1001042,nsv1006084,nsv1007699 M 11257 6 0 ESPNP,LOC729574,MIR3675,MST1L,MST1P2 dgv75n100 1 16963301 17190850 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000053,nsv1008141 M 11257 3 0 ESPNP,LOC729574,MIR3675,MST1L,MST1P2 nsv3320909 1 16963496 16990195 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14477893 M 14 1 0 MST1P2 HG00733 nsv3534321 1 16964449 16964449 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412746 M 9 1 0 "" HG00514 dgv76n100 1 16965649 17048467 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010979,nsv1009805,nsv1004954,nsv1006044 M 11257 8 0 ESPNP,LOC729574,MIR3675,MST1P2 nsv3223153 1 16967443 16996360 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260832,nssv14260838,nssv14260835,nssv14260837,nssv14260834,nssv14260836,nssv14261325,nssv14260839,nssv14260833 M 9 9 0 MST1P2 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 dgv77n100 1 16968113 17114415 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005862,nsv1003231,nsv1010902 M 11257 0 3 ESPNP,LOC729574,MIR3675,MST1L,MST1P2 nsv1161255 1 16970456 17029592 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4029674 M 369 1 0 ESPNP,LOC729574,MIR3675,MST1P2 nsv436652 1 16974452 17083243 OTHER inversion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465873 M 2 0 0 ESPNP,LOC729574,MIR3675,MST1L,MST1P2 NA18505 dgv3n199 1 16975512 17084944 OTHER inversion Quan_et_al_2021 34034800 Sequencing nsv4763393,nsv4755493 M 25 0 0 ESPNP,LOC729574,MIR3675,MST1L,MST1P2 nsv945794 1 16978528 16982572 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756648,nssv1756637,nssv1756573,nssv1756613,nssv1756571,nssv1756630,nssv1756579,nssv1756615,nssv1756572,nssv1756628,nssv1756580,nssv1756639,nssv1756581,nssv1756616,nssv1756597,nssv1756617,nssv1756603,nssv1756625,nssv1756586,nssv1756634,nssv1756596,nssv1756629,nssv1756599,nssv1756631,nssv1756605,nssv1756608,nssv1756584,nssv1756626,nssv1756583,nssv1756609,nssv1756606,nssv1756614,nssv1756604,nssv1756633,nssv1756585,nssv1756612,nssv1756600,nssv1756635,nssv1756570,nssv1756623,nssv1756641,nssv1756627,nssv1756647,nssv1756618,nssv1756645,nssv1756632,nssv1756590,nssv1756624,nssv1756591,nssv1756620,nssv1756601,nssv1756611,nssv1756640,nssv1756621,nssv1756578,nssv1756638,nssv1756588,nssv1756636,nssv1756642,nssv1756622,nssv1756582,nssv1756619,nssv1756577,nssv1756610,nssv1756589,nssv1756598,nssv1756592,nssv1756644,nssv1756593,nssv1756646,nssv1756643,nssv1756587,nssv1756574,nssv1756576,nssv1756594,nssv1756575,nssv1756607,nssv1756602,nssv1756595,nssv1756649 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3321335 1 16978596 16995095 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14489873,nssv14480031,nssv14488842,nssv14477741,nssv14474608 M 14 5 0 "" CHM1,CHM13,HG04217,HX1,NA19240 esv3385518 1 16979065 16988863 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692036 M 185 1 0 "" NA19240 nsv945795 1 16982572 17010028 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756660,nssv1756680,nssv1756651,nssv1756656,nssv1756659,nssv1756672,nssv1756652,nssv1756669,nssv1753747,nssv1756674,nssv1756653,nssv1756677,nssv1756702,nssv1756654,nssv1753749,nssv1756678,nssv1756711,nssv1753740,nssv1756710,nssv1756683,nssv1756704,nssv1756682,nssv1753753,nssv1756686,nssv1756690,nssv1756661,nssv1753754,nssv1756685,nssv1753735,nssv1753744,nssv1756708,nssv1756676,nssv1756714,nssv1756687,nssv1756692,nssv1756679,nssv1753727,nssv1753748,nssv1753750,nssv1753739,nssv1753733,nssv1753745,nssv1756703,nssv1756658,nssv1753732,nssv1753743,nssv1753758,nssv1753738,nssv1753756,nssv1756675,nssv1753731,nssv1756667,nssv1753729,nssv1756684,nssv1756696,nssv1756664,nssv1756709,nssv1756673,nssv1756697,nssv1756666,nssv1756706,nssv1756671,nssv1756712,nssv1756670,nssv1753736,nssv1756662,nssv1753759,nssv1756657,nssv1753734,nssv1756655,nssv1756705,nssv1756681,nssv1756695,nssv1753746,nssv1753728,nssv1756663,nssv1756713,nssv1753742,nssv1756693,nssv1756650,nssv1756707,nssv1756665,nssv1756688,nssv1756668,nssv1756694,nssv1756698,nssv1756699,nssv1756689,nssv1753737,nssv1753751,nssv1753755,nssv1753757,nssv1756715,nssv1753726,nssv1756700,nssv1756701,nssv1756691 M 97 10 0 LOC729574,MIR3675 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv78n100 1 16986839 17276229 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001113,nsv1008540,nsv1009507,nsv1005723,nsv1007084,nsv997587,nsv1006962,nsv997940,nsv1005714,nsv998415,nsv998520,nsv998576,nsv1003651,nsv998952,nsv1007496,nsv1006624,nsv999429,nsv999659,nsv1011033,nsv1011953,nsv999821,nsv1004456,nsv1007124,nsv1013047,nsv1013663,nsv1009239,nsv1013086,nsv1014131,nsv1005263,nsv1010564,nsv1005992 M 11257 0 37 CROCC,ESPNP,LOC729574,MIR3675,MST1L nsv3320070 1 16987222 16988982 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473842 M 14 0 1 "" HG01352 nsv3060903 1 16987230 16988990 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14032309 M 2 0 1 "" CHM1 nsv5571179 1 16987243 16989003 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061293 M 35 0 1 "" HG00513 dgv51e59 1 16989365 17002863 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3391515,esv3415606 M 185 2 0 LOC729574 NA19239,NA19240 nsv1149010 1 16994199 16998400 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997798 M 1 1 0 "" KWB1 nsv3532436 1 16996360 16996360 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438765 M 9 1 0 "" HG00733 nsv5568838 1 16997452 16997870 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061296 M 35 0 1 "" NA19238 nsv1150135 1 16998699 17002000 CNV duplication John_et_al_2014 26484159 Sequencing nssv4003438 M 1 1 0 LOC729574 KWB1 nsv945573 1 16999987 17003206 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570259,nssv2570223,nssv2570269,nssv2570279,nssv2570254,nssv2570221,nssv2570270,nssv2570202,nssv2570244,nssv2570233,nssv2570241,nssv2570218,nssv2570257,nssv2570234,nssv2570260,nssv2570213,nssv2570243,nssv2570229,nssv2570239,nssv2570211,nssv2570250,nssv2570219,nssv2570272,nssv2570210,nssv2570265,nssv2570274,nssv2570261,nssv2570273,nssv2570255,nssv2570196,nssv2570252,nssv2570205,nssv2570249,nssv2570280,nssv2570246,nssv2570203,nssv2570263,nssv2570276,nssv2570268,nssv2570236,nssv2570262,nssv2570225,nssv2570240,nssv2570204,nssv2570271,nssv2570228,nssv2570266,nssv2570226,nssv2570238,nssv2570217,nssv2570237,nssv2570277,nssv2570267,nssv2570281,nssv2570248,nssv2570278,nssv2570247,nssv2571157,nssv2570245,nssv2570214,nssv2570256,nssv2570222,nssv2570251,nssv2570216,nssv2570258,nssv2570227,nssv2570199,nssv2570224,nssv2570200,nssv2570215,nssv2571156,nssv2570230,nssv2570207,nssv2570235,nssv2570206,nssv2570232,nssv2570197,nssv2570208,nssv2570201,nssv2570212 M 97 10 0 LOC729574 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3180417 1 17000910 17001220 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14416409 M 9 0 1 "" HG00514 nsv5564626 1 17000916 17001226 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061723 M 35 0 1 "" NA19238 nsv3320910 1 17000919 17001230 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14477350,nssv14488504 M 14 0 2 "" HG01352,HG02818 nsv160333 1 17000927 17001237 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178911 M 24 "" nsv5430483 1 17001795 17008879 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16896648 M 3202 0 1 MIR3675 nsv5828715 1 17001869 17006962 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458740,nssv17458476 M 914 0 0 "" nsv4518263 1 17002000 17007000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848704 M 10847 0 1 "" nsv4045483 1 17002000 17009000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963814 M 10847 1 0 MIR3675 nsv5610308 1 17002913 17002913 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061724 M 35 1 0 "" HG02011 nsv5615015 1 17003015 17003015 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061725 M 35 1 0 "" NA19650 esv3670782 1 17003085 17003085 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492908 M 20 1 0 "" nsv5956278 1 17003792 17003792 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363216 M 914 1 0 "" nsv6552668 1 17003857 17054795 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248021 M 19652 0 0 ESPNP,MIR3675 nsv1005904 1 17005722 17022269 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481884 M 11257 1 0 ESPNP,MIR3675 dgv79n100 1 17005722 17045749 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012474,nsv998430,nsv1012785,nsv1001470,nsv1000863 M 11257 7 0 ESPNP,MIR3675 dgv80n100 1 17005722 17048467 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009729,nsv1002159,nsv1012493,nsv1002906,nsv1010617,nsv1000215,nsv1000264 M 11257 0 11 ESPNP,MIR3675 dgv81n100 1 17005722 17048467 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012136,nsv1012120,nsv1012643,nsv1005534,nsv1010324,nsv1004024,nsv1010853,nsv1001394,nsv1000798 M 11257 108 74 ESPNP,MIR3675 dgv82n100 1 17005722 17114700 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006800,nsv1001537,nsv1011193,nsv997533,nsv998337,nsv1010255,nsv1001071,nsv1012901,nsv999715,nsv1014668,nsv1011952,nsv1006268,nsv1009237,nsv1007149,nsv1011015 M 11257 54 116 ESPNP,LOC729574,MIR3675,MST1L dgv83n100 1 17005722 17114700 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002351,nsv997472,nsv1001021,nsv997906,nsv1003320,nsv1011440,nsv1003921,nsv1000446,nsv1011126,nsv1011895,nsv999817,nsv1005736,nsv1004466,nsv1000749,nsv1010185,nsv1002283,nsv1013519 M 11257 0 27 ESPNP,LOC729574,MIR3675,MST1L dgv85n100 1 17005722 17228694 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1009673,nsv997590,nsv997873,nsv998000,nsv998033,nsv1007755,nsv1015029,nsv1006639,nsv1012272,nsv1011317 M 11257 11 0 ESPNP,LOC729574,MIR3675,MST1L dgv86n100 1 17005722 17283075 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010977,nsv1010964,nsv1009568,nsv1002740,nsv1009506,nsv997327,nsv1014328,nsv1011194,nsv997485,nsv997557,nsv1009482,nsv1013479,nsv997761,nsv1000042,nsv1015101,nsv998046,nsv1012661,nsv1013740,nsv998741,nsv1011447,nsv1009441,nsv1007131,nsv1005933,nsv999163,nsv999369,nsv1011710,nsv999387,nsv999570,nsv999527,nsv999758,nsv1000831,nsv999997,nsv1011507,nsv1004677,nsv1008705,nsv1014920 M 11257 62 0 CROCC,ESPNP,LOC729574,MIR3675,MST1L dgv87n100 1 17005966 17100865 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002334,nsv1007901,nsv1002559,nsv1001556,nsv1003140,nsv998273,nsv1000221,nsv1006166,nsv1010159,nsv1004982,nsv1000417,nsv1000936,nsv1014803,nsv1001965 M 11257 0 22 ESPNP,LOC729574,MIR3675,MST1L nsv1156271 1 17005978 17076467 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4019372 M 131 1 0 ESPNP,LOC729574,MIR3675 nsv1161259 1 17005978 17093257 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4029685 M 369 1 0 ESPNP,LOC729574,MIR3675,MST1L esv6890 1 17006189 17052558 OTHER inversion Ahn_et_al_2009 19470904 Sequencing essv29331 M 1 0 0 ESPNP,MIR3675 dgv50n106 1 17006700 17071900 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1124564,nsv1132282 M 2 2 0 ESPNP,LOC729574,MIR3675 KWS1,KWS2 nsv1145756 1 17006799 17125600 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997119 M 1 1 0 ESPNP,LOC729574,MIR3675,MST1L KWB1 nsv5580003 1 17006919 17007335 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061726 M 35 0 1 "" HG02818 nsv6320824 1 17006996 17015495 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201958 M 19652 1 0 MIR3675 nsv5671202 1 17007160 17051486 OTHER inversion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061727 M 35 0 0 ESPNP,MIR3675 HG00731 dgv158n54 1 17007904 17012241 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545646,nsv545644 M 17421 2 0 "" dgv159n54 1 17007904 17032817 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545662,nsv545648,nsv545645 M 17421 3 0 ESPNP nsv4047459 1 17008000 17013500 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780852,nssv15780849,nssv15780851,nssv15780850,nssv15780853,nssv15780858,nssv15780855,nssv15780854,nssv15780856,nssv15780857 M 10847 0 0 "" nsv545647 1 17008459 17011440 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710847 M 17421 0 1 "" nsv6333166 1 17008696 17011295 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201959 M 19652 1 0 "" nsv5415985 1 17009295 17049745 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897581 M 3202 0 0 ESPNP esv3550010 1 17009330 17012832 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9748757 M 767 0 1 "" nsv6334086 1 17009396 17014995 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201960 M 19652 1 0 "" esv2674537 1 17009418 17012813 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5468546,essv5628187,essv6404006,essv6291015,essv5572978,essv5658429,essv5405281,essv6344873,essv6491624,essv5807086,essv5446401,essv5758571,essv5765729,essv5574566,essv5523214,essv5947507,essv5564714,essv6573379,essv6372009,essv5711181,essv6380767,essv6360784,essv6030963,essv6364471,essv5989070,essv5790768,essv6081699,essv6114980,essv5694190,essv5690211,essv6441722,essv6359790,essv5862501,essv5928206,essv6101895,essv5717818,essv6406803,essv6053434,essv6284859,essv5843228,essv5983061,essv6555681,essv6566709,essv5622750,essv5952662,essv5779459,essv5521243,essv5779105,essv5649126,essv5420981,essv5781026,essv6511693,essv6548398,essv5886787,essv5687935,essv5818143,essv6063346,essv6558915,essv5597696,essv5426405,essv5620721,essv6339803,essv6434898,essv5416951,essv5538981,essv6566168,essv5634621,essv5400807,essv5405827,essv5522283,essv6168578,essv5898712,essv5601865,essv5441624,essv6278840,essv5867626,essv6152453,essv5522561,essv5646594,essv5979046,essv6144931,essv6506941,essv6527654,essv5932491,essv6491394,essv5475962,essv5733827,essv5516049,essv5428585,essv5498434,essv6101431,essv6133368,essv6206569,essv6064394,essv6553008,essv5556477,essv6184657,essv5450449,essv6204127,essv6191418,essv6575467,essv6072451,essv6135236,essv6194133,essv6352989,essv6371104,essv5675983,essv5654884,essv6242796,essv6388186,essv6527131,essv5767854,essv6345568,essv5912082,essv6336596,essv6386175,essv5954562,essv5716666,essv5869444,essv5904226,essv5497490,essv6477249,essv6550107,essv5995615,essv6340804,essv6149614,essv5884764,essv6095136,essv6220286,essv5528906,essv5630441,essv6304222,essv5663758,essv5654096,essv5840176,essv5861246,essv6144789,essv5995111,essv5954510,essv5439273,essv6419175,essv5837910,essv5967522,essv5631480,essv5740680,essv5625489,essv6073221,essv6252762,essv5466394,essv6062015,essv6162076,essv5805458,essv5480709,essv5751052,essv5499026,essv6209760,essv5750689,essv6390229,essv6369470,essv6399607,essv5459096,essv5635005,essv5555842,essv5971609,essv6499684,essv6014530,essv5666021,essv5834651,essv6070586,essv5610089,essv6173602,essv5512960,essv5470150,essv6075554,essv6456558,essv6422104,essv5918449,essv6589499,essv6237236,essv5456761,essv6340517,essv6576532,essv5848784,essv5845466,essv6094907,essv5659724,essv5871089,essv6531615,essv5558838,essv5759449,essv5622486,essv5944489,essv6269989,essv5443825,essv5904906,essv6289912,essv6100410,essv6544021,essv6440875,essv6144310,essv5534470,essv5599948,essv5397199,essv6165269,essv5434623,essv6295321,essv5767579,essv6535199,essv5594173,essv6288994,essv6062781,essv5784932,essv6506860,essv6572481,essv5938676,essv5501495,essv6500898,essv6307717,essv5983421,essv5795831,essv5687737,essv6366610,essv6305573,essv5450442,essv5660879,essv5588510,essv6274472,essv6311618,essv6519161,essv6173453,essv6451403,essv6326395,essv6402765,essv6484828,essv5731191,essv5678619,essv5711800,essv6158310,essv5832273,essv6530707,essv6244985,essv5745858,essv6042231,essv6014448,essv5422751,essv5701300,essv5876352,essv5501014,essv5429936,essv5408617,essv6330896,essv6512267,essv6437266,essv6110361,essv5989234,essv5549484,essv5439126,essv6283948,essv5410219,essv6170895,essv5440218,essv5942351,essv6108655,essv5687503,essv5471763,essv6539990,essv5676145,essv6489093,essv6141516,essv6474992,essv6535766,essv6365495,essv6143457,essv6253114,essv6115776,essv6462609,essv6310418,essv6006624,essv5532131,essv5803514,essv5683343,essv6466750,essv6479874,essv6000398,essv5917545,essv5502907,essv6324849,essv6223777,essv5840562,essv6449652,essv6138458,essv6572041,essv6390884,essv6124785,essv5926444,essv6283849,essv6150918,essv6104247,essv5732019,essv6329980,essv6437116,essv5879466,essv6320877,essv5744923,essv6102391,essv6191528,essv6508340,essv5778439,essv6261378,essv5686905,essv6596903,essv6495857,essv5684371,essv5592325,essv5657457,essv5460549,essv5628205,essv6507612,essv6407203,essv5408916,essv6050842,essv6086610,essv6201640,essv5772379,essv6537976,essv6507086,essv6376515,essv6486409,essv6316163,essv6577141,essv5422535,essv6340787,essv6440341,essv5430661,essv5844835,essv5873719,essv6093404,essv5781535,essv5560573,essv6015473,essv6473934,essv6311407,essv5454886,essv5582484,essv6389888,essv5822947,essv5552506,essv5964161,essv5411743,essv5562392,essv5833583,essv5778640,essv5915995,essv5653579,essv6590349,essv6253547,essv6506388,essv6116391,essv6308847,essv5707975,essv6384902,essv6383399,essv6329788,essv6299710,essv6242545,essv5778837,essv6433338,essv6254840,essv6066246,essv6380924,essv5752513,essv6167973,essv5561677,essv6197697,essv6538910,essv6197425,essv6071185,essv6117340,essv6210017,essv5492919,essv6014024,essv5993506,essv5609401,essv6203409,essv5496330,essv5780669,essv5898730,essv5502985,essv5791045,essv5522462,essv5905293,essv5419906,essv6164861,essv6157868,essv5561998,essv6056561,essv6064611,essv6126012,essv6205151,essv5632946,essv5955295,essv5877453,essv5748260,essv5876909,essv5607051,essv6564093,essv5836953,essv6359213,essv5588391,essv6414302,essv5813447,essv5576365,essv6124790,essv5583622,essv5792204,essv5560331,essv6371146,essv6130914,essv5852693,essv5434400,essv5486827,essv6259973,essv5731821,essv5650129,essv6550941,essv5796095,essv6166124,essv5932138,essv5790074,essv6577146,essv6238610,essv5656954,essv6156415,essv5917653,essv6234519,essv6219251,essv6160069,essv5712371,essv5982866,essv6228205,essv6446581,essv5729629,essv6532473,essv5652076,essv6369264,essv6066164,essv6050303,essv6105650,essv6427868,essv5842985,essv5766417,essv6536498,essv5854394,essv6053629,essv5760255,essv6182977,essv5728797,essv5705556,essv5659971,essv5746062,essv6560980,essv5884380,essv5458126,essv6053811,essv6396356,essv5517821,essv6395527,essv5413153,essv6496807,essv5750528,essv6221667,essv6047851,essv6012796,essv5756652,essv5585612,essv6035337,essv5873264,essv6337993,essv5448518,essv6384766,essv5403479,essv5918699,essv5468763 M 1151 0 483 "" HG00096,HG00100,HG00106,HG00111,HG00112,HG00115,HG00116,HG00118,HG00119,HG00120,HG00122,HG00123,HG00124,HG00125,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00141,HG00142,HG00143,HG00146,HG00147,HG00148,HG00149,HG00150,HG00152,HG00153,HG00155,HG00156,HG00157,HG00160,HG00171,HG00173,HG00174,HG00178,HG00179,HG00180,HG00181,HG00185,HG00186,HG00187,HG00188,HG00231,HG00233,HG00236,HG00237,HG00239,HG00242,HG00243,HG00244,HG00245,HG00247,HG00250,HG00251,HG00252,HG00254,HG00258,HG00259,HG00262,HG00265,HG00266,HG00267,HG00269,HG00271,HG00274,HG00275,HG00276,HG00277,HG00280,HG00281,HG00284,HG00306,HG00308,HG00310,HG00315,HG00318,HG00319,HG00320,HG00323,HG00324,HG00325,HG00327,HG00330,HG00331,HG00335,HG00336,HG00338,HG00345,HG00346,HG00359,HG00361,HG00362,HG00366,HG00367,HG00372,HG00373,HG00375,HG00377,HG00380,HG00403,HG00404,HG00418,HG00421,HG00427,HG00428,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00476,HG00478,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00536,HG00537,HG00551,HG00553,HG00556,HG00557,HG00559,HG00560,HG00565,HG00566,HG00577,HG00578,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00625,HG00626,HG00628,HG00629,HG00635,HG00637,HG00638,HG00651,HG00653,HG00654,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00690,HG00693,HG00698,HG00699,HG00704,HG00707,HG00708,HG00731,HG00734,HG00736,HG00739,HG00740,HG01047,HG01048,HG01060,HG01061,HG01066,HG01067,HG01069,HG01072,HG01073,HG01075,HG01079,HG01083,HG01094,HG01097,HG01101,HG01102,HG01107,HG01110,HG01112,HG01113,HG01124,HG01125,HG01133,HG01136,HG01137,HG01140,HG01148,HG01149,HG01170,HG01171,HG01174,HG01183,HG01187,HG01188,HG01191,HG01197,HG01198,HG01204,HG01254,HG01334,HG01342,HG01351,HG01353,HG01354,HG01356,HG01360,HG01365,HG01366,HG01374,HG01375,HG01377,HG01378,HG01389,HG01390,HG01437,HG01440,HG01441,HG01456,HG01461,HG01465,HG01488,HG01489,HG01492,HG01494,HG01495,HG01498,HG01516,HG01518,HG01519,HG01521,HG01550,HG01551,NA06986,NA06989,NA07048,NA07051,NA07347,NA11843,NA11892,NA11893,NA11920,NA11930,NA11932,NA11994,NA12046,NA12058,NA12154,NA12155,NA12272,NA12273,NA12275,NA12286,NA12341,NA12342,NA12383,NA12399,NA12400,NA12718,NA12763,NA12777,NA18488,NA18516,NA18530,NA18532,NA18533,NA18534,NA18535,NA18538,NA18539,NA18541,NA18543,NA18547,NA18553,NA18559,NA18560,NA18565,NA18566,NA18567,NA18574,NA18602,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18626,NA18627,NA18628,NA18630,NA18631,NA18634,NA18853,NA18867,NA18868,NA18940,NA18948,NA18950,NA18956,NA18959,NA18960,NA18961,NA18963,NA18964,NA18977,NA18983,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18991,NA18999,NA19002,NA19003,NA19004,NA19007,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19075,NA19076,NA19077,NA19078,NA19079,NA19080,NA19082,NA19083,NA19084,NA19085,NA19087,NA19088,NA19198,NA19311,NA19312,NA19317,NA19318,NA19324,NA19328,NA19331,NA19332,NA19334,NA19346,NA19359,NA19360,NA19381,NA19382,NA19385,NA19390,NA19395,NA19398,NA19401,NA19429,NA19436,NA19438,NA19440,NA19443,NA19445,NA19446,NA19448,NA19452,NA19453,NA19463,NA19467,NA19469,NA19470,NA19472,NA19625,NA19651,NA19652,NA19655,NA19657,NA19658,NA19660,NA19661,NA19663,NA19664,NA19670,NA19675,NA19676,NA19678,NA19679,NA19682,NA19704,NA19707,NA19717,NA19719,NA19720,NA19722,NA19723,NA19725,NA19726,NA19731,NA19732,NA19746,NA19749,NA19755,NA19756,NA19758,NA19762,NA19773,NA19776,NA19777,NA19782,NA19783,NA19785,NA19786,NA19788,NA19818,NA19835,NA19904,NA19908,NA19920,NA19921,NA20276,NA20289,NA20296,NA20299,NA20344,NA20346,NA20502,NA20503,NA20512,NA20528,NA20529,NA20582,NA20586,NA20752,NA20754,NA20771,NA20774,NA20775,NA20790,NA20797,NA20806,NA20812,NA20818 esv2744475 1 17009495 17012813 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6874710,essv6859193,essv6871716,essv6832597,essv6692766,essv6750603,essv6764166,essv6729622,essv6916695,essv6950240,essv6801487,essv6929059,essv6722006,essv6789149,essv6710583,essv6816586,essv6910046,essv6801617,essv6972345,essv6876843,essv6793286,essv6744937,essv6784632 M 96 0 23 "" SSM002,SSM003,SSM004,SSM009,SSM012,SSM015,SSM020,SSM029,SSM037,SSM042,SSM045,SSM047,SSM055,SSM057,SSM063,SSM070,SSM071,SSM073,SSM078,SSM082,SSM088,SSM091,SSM092 nsv957609 1 17009513 17012735 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003694 M 1 0 1 "" BILGI_BIOE nsv5570722 1 17009556 17012746 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061729 M 35 0 1 "" HG02818 dgv2n6 1 17009557 17012761 CNV deletion Mills_et_al_2006 16902084 Sequencing nsv159352,nsv159492 M 24 "" nsv4731457 1 17009558 17012748 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273292 M 25 0 1 "" nsv5573373 1 17009568 17010266 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061730 M 35 0 1 "" HG00512 nsv5952643 1 17009570 17009570 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350664 M 914 1 0 "" dgv160n54 1 17009604 17011655 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545649,nsv545650 M 17421 0 3 "" dgv161n54 1 17009604 17012241 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545657,nsv545651 M 17421 8 0 "" dgv162n54 1 17009604 17012637 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545658,nsv545660,nsv545652 M 17421 0 4 "" nsv545653 1 17009604 17012695 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710860,nssv710861,nssv710859,nssv710862 M 17421 2 2 "" nsv545654 1 17009604 17032814 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710863 M 17421 0 1 ESPNP dgv163n54 1 17010194 17011936 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545656,nsv545655 M 17421 3 4 "" nsv545659 1 17010350 17011655 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710874 M 17421 0 1 "" nsv545661 1 17010563 17012241 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710878,nssv710877 M 17421 1 1 "" nsv6323729 1 17011396 17014795 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201961 M 19652 1 0 "" nsv1014742 1 17011438 17030233 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475540,nssv3463641,nssv3698924 M 11257 3 0 ESPNP dgv88n100 1 17011438 17035208 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003570,nsv1013125 M 11257 0 2 ESPNP dgv89n100 1 17011438 17094054 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002602,nsv997279,nsv1010301,nsv1008943 M 11257 17 10 ESPNP,LOC729574,MST1L dgv90n100 1 17011438 17111547 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002553,nsv1013618,nsv1007643 M 11257 5 0 ESPNP,LOC729574,MST1L dgv91n100 1 17011438 17276229 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011409,nsv1014413,nsv1002162,nsv1008657,nsv1001591,nsv998199,nsv1015124,nsv1001160,nsv1006669,nsv1010885,nsv1008334,nsv1002170,nsv1007278,nsv1005834,nsv1004244,nsv999721,nsv999959,nsv1002043,nsv1009637,nsv1007514,nsv1011647,nsv1000925,nsv1010741,nsv1013593,nsv1008211,nsv1012011 M 11257 163 38 CROCC,ESPNP,LOC729574,MIR3675,MST1L dgv92n100 1 17011438 17330137 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008435,nsv1003274,nsv1001726 M 11257 3 0 ATP13A2,CROCC,ESPNP,LOC729574,MFAP2,MIR3675,MST1L nsv438303 1 17011655 17024300 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv468740,nssv468963,nssv468852,nssv469074 M 269 0 4 ESPNP NA12802,NA12815,NA19138,NA19139 esv33965 1 17012120 17279975 CNV gain+loss de_Smith_et_al_2007 17666407 Oligo aCGH essv96578,essv100427,essv93586,essv92596,essv97457,essv94591,essv98340,essv96287,essv95797,essv93568,essv95690,essv100508,essv95548,essv99198,essv95128,essv93832,essv101115,essv101691,essv99013,essv97738,essv94631,essv101061,essv94416,essv96937,essv97929,essv101652,essv96504,essv100280,essv93056,essv93286,essv94915,essv92701,essv97172,essv95885,essv98164,essv97342,essv101508,essv95397,essv97317 M 51 31 7 CROCC,ESPNP,LOC729574,MIR3675,MST1L 21603,21616,21618,21634,21693,21721,21772,21808,21817,21837,21841,21847,21863,21872,21879,21909,21911,21932,21938,21944,22011,22075,22128,22170,22231,22233,22261,22275,22278,22286,22298,22300,22371 dgv93n100 1 17012178 17094054 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006664,nsv1001620,nsv1013619,nsv1008172 M 11257 6 0 ESPNP,LOC729574,MST1L nsv1075777 1 17012199 17113300 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3769244 M 1 1 0 ESPNP,LOC729574,MST1L KWP1 nsv5566779 1 17012372 17012746 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061731 M 35 0 1 "" HG00514 esv2547944 1 17012740 17050802 CNV gain McKernan_et_al_2009 19546169 Sequencing essv5366950 M 1 1 0 ESPNP NA18507 nsv945796 1 17012769 17014780 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1753794,nssv1754460,nssv1753766,nssv1754430,nssv1753798,nssv1754441,nssv1754465,nssv1754480,nssv1754462,nssv1754433,nssv1753799,nssv1754426,nssv1753779,nssv1754420,nssv1754461,nssv1754425,nssv1753775,nssv1754418,nssv1753791,nssv1754450,nssv1754469,nssv1754436,nssv1753782,nssv1754454,nssv1753777,nssv1754482,nssv1753778,nssv1754442,nssv1753788,nssv1754438,nssv1753760,nssv1754457,nssv1754417,nssv1754421,nssv1753773,nssv1754427,nssv1753769,nssv1754432,nssv1753776,nssv1754444,nssv1753786,nssv1754428,nssv1753781,nssv1754435,nssv1753787,nssv1754424,nssv1754471,nssv1754473,nssv1753768,nssv1754476,nssv1753792,nssv1754474,nssv1753789,nssv1754437,nssv1753797,nssv1754448,nssv1753780,nssv1754422,nssv1754468,nssv1754472,nssv1753765,nssv1754453,nssv1753790,nssv1754452,nssv1754464,nssv1754440,nssv1753767,nssv1754419,nssv1753793,nssv1754447,nssv1753795,nssv1754458,nssv1753772,nssv1754477,nssv1754416,nssv1754439,nssv1753784,nssv1754431,nssv1753783,nssv1754451,nssv1754466,nssv1754446,nssv1754463,nssv1754455,nssv1753771,nssv1754443,nssv1753762,nssv1754459,nssv1753764,nssv1754479,nssv1754470,nssv1754449,nssv1753770,nssv1754429,nssv1753761,nssv1754481,nssv1754475 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv821743 1 17013588 17106501 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1437930 M 31 1 0 ESPNP,LOC729574,MST1L NA18951 nsv437204 1 17014694 17024300 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467085 M 60 0 1 ESPNP NA18506 nsv821754 1 17015261 17032864 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426377 M 31 1 0 ESPNP AK6 nsv821765 1 17015261 17053911 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1440804 M 31 1 0 ESPNP NA18969 nsv3321148 1 17015496 17025695 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14473748,nssv14486087,nssv14479326,nssv14484606 M 14 4 0 ESPNP HG00514,HG02059,HG02818,NA19434 nsv1156284 1 17016880 17056457 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4020590 M 131 0 1 ESPNP nsv819277 1 17018421 17053941 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418721 M 2 1 0 ESPNP AK1 nsv437205 1 17019120 17036231 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467086 M 60 0 1 ESPNP NA19139 esv3334984 1 17020065 17025763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692039 M 185 1 0 ESPNP NA19240 nsv4042036 1 17020224 17020321 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848710 M 10847 0 1 ESPNP nsv3321339 1 17020796 17047695 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14475288,nssv14490550,nssv14479287 M 14 3 0 ESPNP CHM1,HG00514,HG02818 nsv4049898 1 17023720 17023827 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848719 M 10847 0 1 ESPNP nsv437206 1 17024300 17083261 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467087 M 60 0 1 ESPNP,LOC729574,MST1L NA18863 dgv11e214 1 17026064 17052112 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585346,esv3585345,esv3585344,esv3585347 M 2504 2458 0 ESPNP HG00096,HG00097,HG00099,HG00100,HG00101,HG00102,HG00103,HG00105,HG00106,HG00107,HG00108,HG00109,HG00110,HG00111,HG00112,HG00113,HG00114,HG00115,HG00116,HG00118,HG00119,HG00120,HG00121,HG00122,HG00123,HG00125,HG00126,HG00127,HG00128,HG00129,HG00130,HG00131,HG00132,HG00133,HG00136,HG00137,HG00138,HG00139,HG00140,HG00141,HG00142,HG00143,HG00145,HG00146,HG00148,HG00149,HG00150,HG00151,HG00154,HG00155,HG00157,HG00158,HG00159,HG00160,HG00171,HG00173,HG00174,HG00176,HG00177,HG00178,HG00179,HG00180,HG00181,HG00182,HG00183,HG00185,HG00186,HG00187,HG00188,HG00189,HG00190,HG00231,HG00232,HG00233,HG00234,HG00235,HG00236,HG00237,HG00238,HG00239,HG00240,HG00242,HG00243,HG00244,HG00245,HG00246,HG00250,HG00251,HG00252,HG00253,HG00254,HG00255,HG00256,HG00257,HG00258,HG00259,HG00260,HG00261,HG00262,HG00263,HG00264,HG00265,HG00266,HG00267,HG00268,HG00269,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00288,HG00290,HG00308,HG00309,HG00310,HG00311,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00330,HG00331,HG00332,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00341,HG00342,HG00343,HG00344,HG00345,HG00346,HG00349,HG00350,HG00351,HG00353,HG00355,HG00356,HG00357,HG00358,HG00360,HG00361,HG00362,HG00364,HG00365,HG00366,HG00367,HG00369,HG00371,HG00372,HG00373,HG00375,HG00376,HG00378,HG00379,HG00380,HG00381,HG00382,HG00383,HG00384,HG00403,HG00404,HG00406,HG00407,HG00409,HG00410,HG00419,HG00421,HG00422,HG00428,HG00436,HG00437,HG00442,HG00443,HG00445,HG00446,HG00448,HG00449,HG00451,HG00452,HG00457,HG00458,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00551,HG00553,HG00554,HG00556,HG00557,HG00559,HG00560,HG00565,HG00566,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00593,HG00595,HG00596,HG00598,HG00599,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00622,HG00623,HG00625,HG00626,HG00628,HG00629,HG00631,HG00632,HG00634,HG00637,HG00638,HG00640,HG00641,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00674,HG00675,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00704,HG00705,HG00707,HG00708,HG00717,HG00728,HG00729,HG00731,HG00732,HG00734,HG00736,HG00737,HG00739,HG00740,HG00742,HG00743,HG00759,HG00766,HG00844,HG00851,HG00864,HG00867,HG00879,HG00881,HG00956,HG00978,HG00982,HG01028,HG01029,HG01031,HG01046,HG01047,HG01048,HG01049,HG01051,HG01052,HG01054,HG01055,HG01058,HG01060,HG01061,HG01063,HG01064,HG01066,HG01067,HG01069,HG01070,HG01072,HG01073,HG01075,HG01077,HG01079,HG01080,HG01082,HG01083,HG01085,HG01086,HG01088,HG01089,HG01092,HG01094,HG01095,HG01097,HG01098,HG01101,HG01102,HG01104,HG01105,HG01107,HG01108,HG01110,HG01111,HG01112,HG01113,HG01119,HG01121,HG01122,HG01124,HG01125,HG01130,HG01131,HG01133,HG01134,HG01136,HG01137,HG01139,HG01140,HG01142,HG01148,HG01149,HG01161,HG01162,HG01164,HG01167,HG01168,HG01170,HG01171,HG01173,HG01174,HG01176,HG01177,HG01183,HG01187,HG01188,HG01190,HG01191,HG01197,HG01198,HG01200,HG01204,HG01205,HG01241,HG01242,HG01247,HG01248,HG01250,HG01251,HG01253,HG01254,HG01256,HG01257,HG01259,HG01260,HG01269,HG01271,HG01272,HG01275,HG01277,HG01280,HG01281,HG01284,HG01286,HG01302,HG01303,HG01305,HG01308,HG01311,HG01312,HG01323,HG01325,HG01326,HG01334,HG01341,HG01342,HG01344,HG01345,HG01348,HG01350,HG01351,HG01353,HG01354,HG01356,HG01357,HG01359,HG01360,HG01362,HG01363,HG01365,HG01366,HG01369,HG01372,HG01374,HG01375,HG01377,HG01378,HG01383,HG01389,HG01390,HG01392,HG01393,HG01395,HG01396,HG01398,HG01402,HG01403,HG01405,HG01412,HG01413,HG01414,HG01431,HG01432,HG01435,HG01437,HG01438,HG01440,HG01441,HG01443,HG01444,HG01447,HG01455,HG01456,HG01459,HG01461,HG01462,HG01464,HG01465,HG01468,HG01474,HG01479,HG01485,HG01486,HG01488,HG01489,HG01491,HG01492,HG01494,HG01495,HG01497,HG01498,HG01500,HG01501,HG01503,HG01504,HG01506,HG01507,HG01509,HG01510,HG01512,HG01513,HG01515,HG01516,HG01518,HG01519,HG01521,HG01522,HG01524,HG01525,HG01527,HG01528,HG01530,HG01531,HG01536,HG01537,HG01550,HG01551,HG01556,HG01565,HG01566,HG01571,HG01572,HG01577,HG01578,HG01583,HG01586,HG01589,HG01593,HG01595,HG01596,HG01597,HG01598,HG01599,HG01600,HG01602,HG01603,HG01605,HG01606,HG01607,HG01608,HG01610,HG01612,HG01613,HG01615,HG01617,HG01618,HG01619,HG01620,HG01623,HG01624,HG01625,HG01626,HG01628,HG01630,HG01631,HG01632,HG01668,HG01669,HG01670,HG01672,HG01673,HG01675,HG01676,HG01678,HG01679,HG01680,HG01684,HG01685,HG01686,HG01694,HG01695,HG01697,HG01699,HG01700,HG01702,HG01704,HG01705,HG01707,HG01708,HG01709,HG01746,HG01747,HG01756,HG01757,HG01761,HG01762,HG01765,HG01766,HG01767,HG01768,HG01770,HG01771,HG01773,HG01775,HG01776,HG01777,HG01779,HG01781,HG01783,HG01784,HG01785,HG01786,HG01789,HG01790,HG01791,HG01794,HG01795,HG01796,HG01797,HG01798,HG01799,HG01800,HG01801,HG01802,HG01804,HG01805,HG01806,HG01807,HG01808,HG01809,HG01810,HG01811,HG01812,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nsv6049238 1 17027900 17027900 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521080 M 405 1 0 ESPNP nsv5613741 1 17027901 17027901 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061734 M 35 1 0 ESPNP HG00171 nsv3056765 1 17027912 17027912 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14023566 M 2 1 0 ESPNP CHM1 nsv4757316 1 17027913 17027913 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16261101 M 25 1 0 ESPNP dgv52e59 1 17029465 17125658 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3347982,esv3350404,esv3418061,esv3377509 M 185 4 0 ESPNP,LOC729574,MST1L NA12878,NA12891,NA12892,NA19238 esv3419956 1 17029565 17041163 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692043 M 185 1 0 ESPNP NA12892 nsv954849 1 17029601 17125300 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003136 M 1 1 0 ESPNP,LOC729574,MST1L BILGI_BIOE esv2658050 1 17031841 17032423 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5875088,essv5428228,essv5527619,essv6257129,essv5927601,essv5952061,essv6258973,essv5826742 M 1151 0 8 ESPNP NA18856,NA19138,NA19317,NA19332,NA19446,NA19452,NA19467,NA19681 nsv4038030 1 17031841 17032423 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848726 M 10847 0 1 ESPNP nsv4049762 1 17032441 17032524 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850044 M 10847 0 1 ESPNP esv3892414 1 17032814 17267496 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25788485,essv25791923 M 3017 2 0 CROCC,ESPNP,LOC729574,MIR3675,MST1L nsv545663 1 17032817 17046439 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710880,nssv710881,nssv710882 M 17421 0 3 ESPNP dgv164n54 1 17032817 17103410 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545668,nsv545664 M 17421 0 2 ESPNP,LOC729574,MST1L nsv3191488 1 17033949 17083297 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255861,nssv14255859,nssv14255860,nssv14255862 M 9 0 4 ESPNP,LOC729574,MST1L HG00513,HG00514,HG00731,HG00733 esv3372391 1 17034765 17092063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692045 M 185 1 0 ESPNP,LOC729574,MST1L NA19240 dgv99n223 1 17035096 17040495 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6329302,nsv6316112 M 19652 2 0 ESPNP nsv511141 1 17035193 17046456 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625265 M 1 0 1 ESPNP 1 dgv165n54 1 17035600 17053909 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545666,nsv545665 M 17421 0 2 ESPNP nsv1009050 1 17036202 17111547 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482504 M 11257 0 1 ESPNP,LOC729574,MST1L nsv1013011 1 17036674 17114700 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475430 M 11257 1 0 ESPNP,LOC729574,MST1L nsv4536725 1 17038799 17038800 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028703 M 10847 1 0 ESPNP nsv5957909 1 17042833 17042833 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17368024 M 914 1 0 ESPNP nsv545667 1 17044511 17089050 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710886 M 17421 0 1 ESPNP,LOC729574,MST1L nsv1004978 1 17045446 17114700 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469518,nssv3700034,nssv3474240,nssv3700033,nssv3480064,nssv3700035,nssv3463375,nssv3470604,nssv3482626,nssv3474852 M 11257 3 7 ESPNP,LOC729574,MST1L nsv945797 1 17048159 17077526 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754573,nssv1754526,nssv1754517,nssv1754554,nssv1754491,nssv1754525,nssv1754569,nssv1754580,nssv1754516,nssv1754584,nssv1754568,nssv1754558,nssv1754521,nssv1754538,nssv1754571,nssv1754559,nssv1754488,nssv1754548,nssv1754509,nssv1754585,nssv1754499,nssv1754586,nssv1754510,nssv1754587,nssv1754570,nssv1754552,nssv1754505,nssv1754556,nssv1754506,nssv1754565,nssv1754508,nssv1754553,nssv1754492,nssv1754589,nssv1754572,nssv1754557,nssv1754504,nssv1754540,nssv1754495,nssv1754536,nssv1754578,nssv1754550,nssv1754524,nssv1754541,nssv1754513,nssv1754532,nssv1754501,nssv1754582,nssv1754496,nssv1754562,nssv1754514,nssv1754527,nssv1754490,nssv1754546,nssv1754498,nssv1754547,nssv1754518,nssv1754531,nssv1754515,nssv1754537,nssv1754523,nssv1754564,nssv1754483,nssv1754560,nssv1754520,nssv1754529,nssv1754503,nssv1754567,nssv1754507,nssv1754542,nssv1754512,nssv1754561,nssv1754487,nssv1754549,nssv1754574,nssv1754551,nssv1754575,nssv1754543,nssv1754519,nssv1754535,nssv1754502,nssv1754528,nssv1754497,nssv1754579,nssv1754484,nssv1754534,nssv1754494,nssv1754539,nssv1754485,nssv1754530,nssv1754486,nssv1754583,nssv1754576,nssv1754581,nssv1754493,nssv1754545,nssv1754563 M 97 10 0 LOC729574 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3320914 1 17048296 17125095 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14473710,nssv14481402,nssv14491360,nssv14481677,nssv14479726,nssv14489789,nssv14472891,nssv14483501,nssv14486837 M 14 9 0 LOC729574,MST1L HG00268,HG00514,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19434 nsv5724932 1 17049355 17049355 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17242365 M 3202 1 0 "" nsv5716243 1 17049370 17049370 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17244824 M 3202 1 0 "" esv2440890 1 17050802 17054181 CNV gain McKernan_et_al_2009 19546169 Sequencing essv5191715 M 1 1 0 "" NA18507 dgv22n67 1 17050837 17106654 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821798,nsv821787,nsv821776,nsv821810 M 31 4 0 LOC729574,MST1L AK16,AK18,AK2,AK4 nsv3320693 1 17051596 17061895 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14484192 M 14 1 0 LOC729574 HG00733 nsv3320915 1 17051596 17085595 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14490843,nssv14489135,nssv14480900,nssv14474745,nssv14478366,nssv14482569,nssv14479334,nssv14491451,nssv14479038,nssv14472706,nssv14483810,nssv14485632,nssv14478152 M 14 13 0 LOC729574,MST1L CHM1,CHM13,HG00268,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3542092 1 17051600 17051600 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384711 M 9 1 0 "" NA19240 nsv3215627 1 17051600 17083297 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267878,nssv14267877,nssv14267876 M 9 3 0 LOC729574,MST1L HG00513,HG00731,NA19239 esv2744486 1 17052228 17186826 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6692767,essv6847018,essv6829000 M 96 0 3 LOC729574,MIR3675,MST1L SSM037,SSM081,SSM086 nsv3965 1 17052511 17085042 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3893,nssv5340 M 9 2 0 LOC729574,MST1L NA12878,NA19129 nsv1077134 1 17053756 17053819 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766946 M 1 0 1 "" KWP1 esv2744497 1 17054301 17054683 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6692767,essv6829000 M 96 0 2 "" SSM037,SSM081 esv2744508 1 17054436 17054588 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6692767 M 96 0 1 "" SSM037 nsv5567071 1 17055700 17057841 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061741 M 35 0 1 "" NA12329 nsv5538292 1 17056631 17056670 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16897647 M 3202 1 0 "" nsv5624468 1 17057162 17057162 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061742 M 35 1 0 "" HG02818 nsv6060068 1 17057162 17057162 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519454 M 405 1 0 "" esv3423215 1 17058465 17071063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692048 M 185 1 0 LOC729574 NA19239 nsv5613914 1 17059527 17059527 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061744 M 35 1 0 "" NA12329 nsv5981924 1 17059991 17060321 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522668 M 405 0 1 "" nsv6052088 1 17060063 17060063 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526234 M 405 1 0 "" nsv5570686 1 17062067 17062572 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061745 M 35 0 1 "" HG00731 nsv3320694 1 17062564 17062564 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472860 M 14 1 0 "" HG02106 nsv3188591 1 17062573 17069850 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438766 M 9 0 0 "" HG00733 nsv3210213 1 17064088 17090017 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255536,nssv14255537,nssv14255535 M 9 0 3 MST1L HG00512,HG00513,HG00731 dgv22e199 1 17069933 17232790 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2674439,esv2659361 M 1151 0 10 MIR3675,MST1L HG00124,HG00174,HG00339,HG00554,HG00734,HG01073,HG01124,HG01140,HG01365,NA19057 nsv5574580 1 17070918 17073104 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061752 M 35 0 1 "" HG00731 nsv5583260 1 17071079 17077992 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061753 M 35 0 1 "" HG03125 nsv3937798 1 17071423 17073187 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181686 M 1 0 1 "" HG002 nsv498664 1 17071423 17073212 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585404 M 9 0 1 "" dgv123n152 1 17071424 17073208 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3174616,nsv3180995 M 9 0 2 "" HG00514,HG00733 nsv3321152 1 17071425 17073188 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488646,nssv14479258,nssv14478021 M 14 0 3 "" HG00733,HG02106,HG04217 nsv4735908 1 17071430 17073196 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16294599 M 25 0 1 "" nsv5981809 1 17071436 17073189 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530268 M 405 0 1 "" nsv3066407 1 17071465 17073228 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14034455 M 2 0 1 "" CHM1 esv3430695 1 17072165 17085763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692049 M 185 1 0 MST1L NA19239 nsv1115339 1 17072300 17125600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977062,nssv3987051 M 2 2 0 MST1L KWS1,KWS2 esv3674504 1 17072991 17073460 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496258 M 20 0 0 "" nsv5428927 1 17074237 17124879 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898067 M 3202 0 0 MST1L nsv945798 1 17077526 17082410 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754602,nssv1754656,nssv1754622,nssv1754653,nssv1754623,nssv1754649,nssv1754597,nssv1754651,nssv1754607,nssv1754633,nssv1754674,nssv1754662,nssv1754667,nssv1754650,nssv1754619,nssv1754635,nssv1754673,nssv1754641,nssv1754627,nssv1754664,nssv1754626,nssv1754658,nssv1754620,nssv1754637,nssv1754608,nssv1754659,nssv1754615,nssv1754655,nssv1754598,nssv1754640,nssv1754616,nssv1754636,nssv1754595,nssv1754657,nssv1754594,nssv1754645,nssv1754677,nssv1754663,nssv1754671,nssv1754666,nssv1754672,nssv1754646,nssv1754630,nssv1754642,nssv1754605,nssv1754634,nssv1754609,nssv1754652,nssv1754624,nssv1754660,nssv1754628,nssv1754661,nssv1754625,nssv1754639,nssv1754596,nssv1754638,nssv1754614,nssv1754648,nssv1754604,nssv1754647,nssv1754668,nssv1754644,nssv1754613,nssv1754631,nssv1754612,nssv1754593,nssv1754618,nssv1754600,nssv1754606,nssv1754591,nssv1754629,nssv1754592,nssv1754611,nssv1754601,nssv1754670,nssv1754675,nssv1754669,nssv1754617,nssv1754603,nssv1754590 M 97 10 0 MST1L HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945799 1 17082410 17125658 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754689,nssv1754681,nssv1754685,nssv1754683,nssv1754678,nssv1754679,nssv1754686,nssv1754680,nssv1754688,nssv1754682,nssv1754684 M 97 10 0 MST1L HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv101n100 1 17082579 17286307 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010868,nsv997522,nsv997588,nsv997704,nsv1008997,nsv1012064,nsv1006989,nsv1014863,nsv999848,nsv1001823,nsv1004987,nsv1010245,nsv1005424,nsv1013757 M 11257 23 0 CROCC,MIR3675,MST1L nsv5981737 1 17084499 17084693 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527738 M 405 0 1 MST1L esv3414600 1 17086265 17088263 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692050 M 185 1 0 MST1L NA19239 nsv3321345 1 17092696 17125095 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14484755,nssv14480072,nssv14473388,nssv14485243,nssv14486708 M 14 5 0 "" CHM1,HG00268,HG00733,HG02106,HG04217 esv3424787 1 17095965 17105363 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692051 M 185 1 0 "" NA19240 esv3397521 1 17106165 17108263 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692052 M 185 1 0 "" NA19240 nsv6256435 1 17114318 17114318 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17859087 M 1021 1 0 "" esv3408780 1 17117065 17118963 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692054 M 185 1 0 "" NA19238 nsv1075367 1 17119799 17124900 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3773002 M 1 1 0 "" KWP1 esv3348545 1 17120165 17125363 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692055 M 185 1 0 "" NA19238 nsv3537745 1 17120797 17120797 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412747,nssv14438767 M 9 2 0 "" HG00514,HG00733 nsv945800 1 17175659 17282004 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754691,nssv1754703,nssv1754701,nssv1755838,nssv1754692,nssv1754711,nssv1755844,nssv1754706,nssv1754693,nssv1755785,nssv1754700,nssv1754697,nssv1755854,nssv1755835,nssv1755816,nssv1754716,nssv1755829,nssv1755837,nssv1755813,nssv1755786,nssv1755815,nssv1755790,nssv1755834,nssv1754702,nssv1755804,nssv1754695,nssv1755801,nssv1754710,nssv1755818,nssv1755842,nssv1755810,nssv1754721,nssv1755833,nssv1754705,nssv1755831,nssv1754699,nssv1755806,nssv1754718,nssv1755812,nssv1755843,nssv1755793,nssv1754713,nssv1755849,nssv1755789,nssv1755830,nssv1754690,nssv1755855,nssv1755788,nssv1755797,nssv1755787,nssv1755823,nssv1754704,nssv1755796,nssv1754707,nssv1755817,nssv1754696,nssv1755856,nssv1755839,nssv1755819,nssv1754719,nssv1755809,nssv1755840,nssv1755805,nssv1754722,nssv1755808,nssv1754717,nssv1755826,nssv1754723,nssv1755851,nssv1755845,nssv1755800,nssv1755841,nssv1755853,nssv1754708,nssv1755807,nssv1754712,nssv1755794,nssv1754715,nssv1755850,nssv1755791,nssv1755795,nssv1754714,nssv1755827,nssv1754694,nssv1755798,nssv1755828,nssv1755820,nssv1755852,nssv1755846,nssv1755832,nssv1755799,nssv1755821,nssv1755848,nssv1755802,nssv1755824,nssv1755811,nssv1755822 M 97 10 0 CROCC,MIR3675 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv100n223 1 17175696 17300495 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6332212,nsv6333329 M 19652 2 0 CROCC,MIR3675 esv26111 1 17175722 17281753 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv20155,esv15181,esv18904,esv11657,esv20295,esv11182,esv15416,esv16106 M 40 16 11 CROCC,MIR3675 NA07037,NA07045,NA11894,NA11993,NA12156,NA12414,NA12878,NA15510,NA18502,NA18505,NA18511,NA18523,NA18858,NA18861,NA18907,NA18909,NA19099,NA19108,NA19114,NA19129,NA19147,NA19225,NA19257 nsv821037 1 17175722 17281753 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420258 M 1 1 0 CROCC,MIR3675 NA10851 esv3422357 1 17175865 17180563 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692056 M 185 1 0 "" NA12891 dgv53e59 1 17175865 17182463 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3367003,esv3366548,esv3353084,esv3328740,esv3333777 M 185 5 0 "" NA12878,NA12892,NA19238,NA19239,NA19240 dgv101n223 1 17175896 17280695 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6320386,nsv6318497,nsv6331920,nsv6322810,nsv6330297,nsv6325357,nsv6324645,nsv6317008,nsv6334962,nsv6329675,nsv6334131,nsv6333530,nsv6323586,nsv6329945,nsv6323922,nsv6325375,nsv6333066,nsv6324462,nsv6329085,nsv6320481,nsv6327329,nsv6319231,nsv6331765,nsv6322166,nsv6325968,nsv6318137,nsv6333791,nsv6320932,nsv6324554,nsv6320609,nsv6317735,nsv6318278,nsv6318192 M 19652 33 0 CROCC,MIR3675 nsv1151399 1 17175899 17275700 CNV duplication John_et_al_2014 26484159 Sequencing nssv4003962 M 1 1 0 CROCC,MIR3675 KWB1 nsv1076319 1 17175999 17203400 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3764135 M 1 1 0 MIR3675 KWP1 nsv1128590 1 17176000 17180800 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960501 M 2 1 0 "" KWS1 nsv545669 1 17176864 17195180 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710888 M 17421 0 1 MIR3675 nsv1014044 1 17177033 17236258 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478018 M 11257 1 0 MIR3675 dgv104n100 1 17177033 17261251 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1010819,nsv1005785,nsv1012591,nsv1002830,nsv1012582,nsv1006496,nsv997607,nsv1003243,nsv998760,nsv998988,nsv1012137,nsv1006089,nsv1011464,nsv1013384,nsv1011896,nsv1001652,nsv1012431,nsv1013495,nsv1006260,nsv1014805,nsv1005329,nsv1007033 M 11257 0 32 CROCC,MIR3675 dgv105n100 1 17177033 17262235 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012503,nsv1002929,nsv1003050,nsv1014380,nsv1014409,nsv1007098,nsv1008038,nsv1004202,nsv1006056,nsv1000195,nsv1008693,nsv1001788,nsv1006120,nsv1010291,nsv1005985,nsv1013701 M 11257 298 82 CROCC,MIR3675 dgv106n100 1 17177033 17262235 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003238,nsv1014435,nsv1005672,nsv1008080,nsv1002084,nsv1006917,nsv1012933,nsv999892,nsv1007186,nsv1009803,nsv1013559,nsv1012349,nsv1005399 M 11257 19 0 CROCC,MIR3675 nsv1006828 1 17177033 17276229 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700138,nssv3479165,nssv3700137,nssv3477465,nssv3700136,nssv3467228,nssv3700135,nssv3477926,nssv3474178,nssv3474179,nssv3462769,nssv3471245,nssv3482066,nssv3464892,nssv3463758,nssv3470456,nssv3471291,nssv3465003,nssv3464272,nssv3480631,nssv3476691,nssv3467984,nssv3477410,nssv3464446 M 11257 23 1 CROCC,MIR3675 dgv107n100 1 17177033 17303832 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006648,nsv1002758,nsv999751,nsv1005053,nsv1013621 M 11257 14 0 CROCC,MFAP2,MIR3675 dgv108n100 1 17177033 17336865 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001977,nsv999404 M 11257 2 0 ATP13A2,CROCC,MFAP2,MIR3675 nsv834258 1 17177359 17280949 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443395,nssv1443407,nssv1443418 M 95 0 3 CROCC,MIR3675 nsv6138574 1 17177658 17193395 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898069 M 3202 0 1 MIR3675 nsv5422451 1 17177658 17275658 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898070 M 3202 0 0 CROCC,MIR3675 nsv6324411 1 17180096 17183195 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201543 M 19652 1 0 "" nsv5423859 1 17181535 17189867 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899769 M 3202 0 1 MIR3675 nsv6333787 1 17181696 17187095 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201546 M 19652 1 0 MIR3675 nsv834269 1 17181778 17365026 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443440,nssv1443429,nssv1443451,nssv1443462,nssv1443473,nssv1443484,nssv1443495,nssv1443506,nssv1443518,nssv1443529,nssv1443540,nssv1443573,nssv1443551,nssv1443562,nssv1443595,nssv1443584,nssv1443606,nssv1443617,nssv1443629,nssv1443640,nssv1443651,nssv1443662 M 95 0 22 ATP13A2,CROCC,MFAP2,MIR3675,SDHB dgv29n209 1 17181873 17183687 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5828400,nsv5828399,nsv5828525 M 914 0 0 "" nsv6324440 1 17181996 17183195 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201547 M 19652 1 0 "" nsv6317773 1 17181996 17221895 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201548 M 19652 1 0 MIR3675 dgv109n100 1 17182425 17248386 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998234,nsv1003512,nsv1014579,nsv1011863 M 11257 9 12 MIR3675 nsv1156356 1 17182437 17203497 OTHER complex Lou_et_al_2014 25026903 SNP array nssv4020701,nssv4021403,nssv4021486,nssv4020812,nssv4021475 M 131 1 4 MIR3675 dgv7n97 1 17182437 17276241 OTHER complex Lou_et_al_2014 25026903 SNP array nsv1154576,nsv1156392 M 131 17 38 CROCC,MIR3675 nsv1139475 1 17182700 17275700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977063 M 2 1 0 CROCC,MIR3675 KWS2 dgv166n54 1 17183115 17282425 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545670,nsv545671 M 17421 3 5 CROCC,MIR3675 esv3892303 1 17183115 17282425 CNV gain+loss Suktitipat_et_al_2014 25118596 SNP array essv25800967,essv25785742,essv25798913,essv25791145,essv25786129,essv25784995,essv25786037 M 3017 1 6 CROCC,MIR3675 nsv545672 1 17183115 17299983 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710897 M 17421 0 1 CROCC,MIR3675 dgv54e59 1 17183165 17276363 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3406942,esv3380286 M 185 2 0 CROCC,MIR3675 NA19239,NA19240 nsv1132284 1 17184800 17186500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987053 M 2 1 0 MIR3675 KWS1 dgv102n223 1 17184996 17254995 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6325512,nsv6315856,nsv6324666 M 19652 3 0 CROCC,MIR3675 dgv103n223 1 17185196 17240395 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6320088,nsv6329068,nsv6328061,nsv6317295,nsv6322890,nsv6322675,nsv6320990,nsv6317385 M 19652 8 0 MIR3675 nsv5577162 1 17185864 17186106 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061272 M 35 0 1 "" HG00732 nsv3321160 1 17185996 17209295 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14487753,nssv14480902,nssv14474746,nssv14483618,nssv14485058,nssv14473215,nssv14478287,nssv14472903,nssv14491196,nssv14486243,nssv14480647,nssv14480349,nssv14482050,nssv14482177 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 dgv104n223 1 17186096 17221995 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6333674,nsv6319526,nsv6328907,nsv6328746,nsv6330405,nsv6331277,nsv6320671,nsv6317567,nsv6333856,nsv6318857,nsv6326469,nsv6321123,nsv6330640 M 19652 13 0 "" esv3354837 1 17186465 17188963 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692063 M 185 1 0 "" NA19238 nsv5828401 1 17187301 17189587 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450188,nssv17463317 M 914 0 0 "" nsv1132285 1 17189600 17221500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987054 M 2 1 0 "" KWS1 nsv5615226 1 17189617 17189617 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061273 M 35 1 0 "" HG01505 nsv954851 1 17189701 17193600 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003138 M 1 1 0 "" BILGI_BIOE nsv1156393 1 17190004 17203497 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4021531 M 131 1 0 "" nsv5579526 1 17190345 17192583 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061274 M 35 0 1 "" HG03732 nsv6256546 1 17190363 17190363 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856468 M 1021 1 0 "" dgv105n223 1 17190696 17207095 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6326828,nsv6328689 M 19652 2 0 "" dgv110n100 1 17190850 17247874 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014375,nsv1010206,nsv1014452,nsv1010407,nsv1009221,nsv1013536 M 11257 0 8 "" dgv111n100 1 17190850 17295200 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006180,nsv1014411,nsv998363,nsv1000622,nsv1008482,nsv1005199 M 11257 25 0 CROCC nsv1156406 1 17190862 17253375 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4021542 M 131 1 0 CROCC esv990069 1 17190862 17262247 CNV loss Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586006 M 3 0 1 CROCC HuRef nsv1160181 1 17190862 17276241 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4030059,nssv4029881,nssv4030026,nssv4029981,nssv4029948,nssv4029959,nssv4029848,nssv4026046,nssv4026113,nssv4029718,nssv4030070,nssv4030081,nssv4029970,nssv4026124,nssv4029903,nssv4030014,nssv4026002,nssv4029837,nssv4026135,nssv4029826,nssv4030003,nssv4029804,nssv4026035,nssv4026146,nssv4029759,nssv4030092,nssv4030037,nssv4026157,nssv4026168,nssv4030103,nssv4030114,nssv4026068,nssv4026079,nssv4029728,nssv4026102,nssv4029781,nssv4029735,nssv4025991,nssv4029792,nssv4029730,nssv4029870,nssv4029696,nssv4029815,nssv4029729,nssv4026090,nssv4029734,nssv4029731,nssv4029732,nssv4029937,nssv4029926,nssv4030125,nssv4026057,nssv4029892,nssv4030048,nssv4029992,nssv4029737,nssv4029736,nssv4029770,nssv4029859,nssv4029738,nssv4029915,nssv4026024,nssv4026013,nssv4029748,nssv4029707 M 369 65 0 CROCC nsv3169934 1 17190862 17276241 CNV duplication Fu_et_al_2018 29476164 SNP array nssv14243728,nssv14247238,nssv14249410,nssv14251024,nssv14244758,nssv14247283,nssv14247786,nssv14246364,nssv14247021,nssv14242618,nssv14247880,nssv14248841,nssv14251972,nssv14242931,nssv14247364,nssv14250808,nssv14243345,nssv14241790,nssv14246291,nssv14250759,nssv14241634,nssv14248195,nssv14244123,nssv14247192,nssv14244597,nssv14251164,nssv14241989,nssv14244727,nssv14241468,nssv14242336,nssv14244848,nssv14246494,nssv14247989,nssv14251622,nssv14250906,nssv14248711,nssv14252155,nssv14250657,nssv14252074,nssv14247332,nssv14249310,nssv14243306,nssv14244949,nssv14252429,nssv14248537,nssv14245497,nssv14247153,nssv14245046,nssv14247454,nssv14251148,nssv14245319,nssv14248035,nssv14243388,nssv14248502,nssv14245117,nssv14251577,nssv14247295,nssv14246049,nssv14249273,nssv14245015,nssv14249283,nssv14245951,nssv14247626,nssv14246271,nssv14243042,nssv14246515,nssv14242744,nssv14252196,nssv14245199,nssv14241724,nssv14246432,nssv14245128,nssv14250377,nssv14242002,nssv14248538,nssv14250671,nssv14246181,nssv14248440,nssv14249051,nssv14244593,nssv14246231,nssv14249618,nssv14245087 M 93 83 0 CROCC MLY_1,MLY_10,MLY_11,MLY_13,MLY_14,MLY_15,MLY_16,MLY_17,MLY_2,MLY_3,MLY_4,MLY_5,MLY_6,MLY_7,MLY_9,NGO_1,NGO_10,NGO_11,NGO_12,NGO_13,NGO_14,NGO_15,NGO_16,NGO_17,NGO_18,NGO_19,NGO_2,NGO_21,NGO_22,NGO_23,NGO_24,NGO_25,NGO_26,NGO_27,NGO_28,NGO_29,NGO_3,NGO_30,NGO_31,NGO_32,NGO_33,NGO_35,NGO_37,NGO_38,NGO_4,NGO_41,NGO_42,NGO_43,NGO_46,NGO_48,NGO_49,NGO_5,NGO_50,NGO_51,NGO_52,NGO_53,NGO_54,NGO_55,NGO_6,NGO_7,NGO_8,NGO_9,PML_1,PML_2,PML_3,PML_4,SNI_1,SNI_10,SNI_11,SNI_12,SNI_13,SNI_14,SNI_15,SNI_16,SNI_17,SNI_2,SNI_3,SNI_4,SNI_5,SNI_6,SNI_7,SNI_8,SNI_9 nsv1154577 1 17190862 17282425 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4007062 M 131 1 0 CROCC nsv3051097 1 17191782 17191904 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14017803 M 2 0 1 "" NA12878 nsv2800819 1 17191810 17191905 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690679 M 2 0 1 "" nsv5565473 1 17191810 17191906 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061275 M 35 0 1 "" HG00732 nsv3320926 1 17191811 17191907 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487300,nssv14477934,nssv14480470,nssv14482534,nssv14478931,nssv14481975 M 14 0 6 "" CHM1,HG00268,HG01352,HG02106,HG04217,NA19434 nsv6333293 1 17194096 17198295 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201604 M 19652 1 0 "" dgv55e59 1 17194665 17205663 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3326251,esv3329394 M 185 2 0 "" NA12878,NA19238 nsv2800172 1 17194720 17194720 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676792 M 2 1 0 "" nsv3321353 1 17194720 17194720 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14473131,nssv14486275,nssv14479907,nssv14480319,nssv14482030,nssv14491910,nssv14474719,nssv14476206 M 14 8 0 "" CHM1,CHM13,HG00268,HG01352,HG02106,HG04217,HX1,NA19434 nsv5616914 1 17194721 17194721 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061276 M 35 1 0 "" HG00514 nsv3053487 1 17194731 17194731 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021270 M 2 1 0 "" NA12878 esv3584587 1 17195155 17262247 CNV gain Mokhtar_et_al_2014 24956385 SNP array essv9838720,essv9838719 M 34 2 0 CROCC KSM006,KSM008 nsv442727 1 17195155 17262247 CNV gain McCarroll_et_al_2008 18776908 SNP array nssv1617606,nssv1617489,nssv1617481,nssv1617521,nssv1617538,nssv1617402,nssv1617522,nssv1617409,nssv1617507,nssv1617616,nssv1617513,nssv1617423,nssv1617588,nssv1617451,nssv1617459,nssv1617605,nssv1617549,nssv1617420,nssv1617621,nssv1617550,nssv1617526,nssv1617571,nssv1617497,nssv1617598,nssv1617432,nssv1617540,nssv1617582,nssv1617593,nssv1617535,nssv1617567,nssv1617541,nssv1617610,nssv1617608,nssv1617600,nssv1617516,nssv1617449,nssv1617581,nssv1617482,nssv1617561,nssv1617617,nssv1617618,nssv1617585,nssv1617431,nssv1617438,nssv1617407,nssv1617485,nssv1617504,nssv1617565,nssv1617563,nssv1617557,nssv1617518,nssv1617495,nssv1617505,nssv1617421,nssv1617576,nssv1617426,nssv1617630,nssv1617473,nssv1617490,nssv1617510,nssv1617422,nssv1617446,nssv1617554,nssv1617472,nssv1617453,nssv1617478,nssv1617532,nssv1617405,nssv1617506,nssv1617471,nssv1617544,nssv1617417,nssv1617519,nssv1617452,nssv1617551,nssv1617575,nssv1617566,nssv1617476,nssv1617587,nssv1617466,nssv1617442,nssv1617599,nssv1617564,nssv1617586,nssv1617437,nssv1617462,nssv1617545,nssv1617530,nssv1617440,nssv1617419,nssv1617628,nssv1617548,nssv1617428,nssv1617498,nssv1617607,nssv1617463,nssv1617430,nssv1617441,nssv1617496,nssv1617464,nssv1617543,nssv1617512,nssv1617597,nssv1617556,nssv1617531,nssv1617404,nssv1617612,nssv1617429,nssv1617484,nssv1617509,nssv1617413,nssv1617443,nssv1617624,nssv1617411,nssv1617488,nssv1617493,nssv1617454,nssv1617537,nssv1617416,nssv1617572,nssv1617511,nssv1617467,nssv1617500,nssv1617546,nssv1617583,nssv1617596,nssv1617578,nssv1617629,nssv1617444,nssv1617483,nssv1617589,nssv1617494,nssv1617474,nssv1617465,nssv1617434,nssv1617529,nssv1617523,nssv1617533,nssv1617424,nssv1617595,nssv1617487,nssv1617406,nssv1617562,nssv1617508,nssv1617475,nssv1617570,nssv1617594,nssv1617468,nssv1617515,nssv1617415,nssv1617626,nssv1617501,nssv1617579,nssv1617620,nssv1617601,nssv1617439,nssv1617450,nssv1617573,nssv1617524,nssv1617499,nssv1617632,nssv1617427,nssv1617555,nssv1617611,nssv1617477,nssv1617455,nssv1617577,nssv1617418,nssv1617584,nssv1617534,nssv1617553,nssv1617622,nssv1617559,nssv1617542,nssv1617609,nssv1617592,nssv1617457,nssv1617527,nssv1617528,nssv1617623,nssv1617433,nssv1617408,nssv1617627,nssv1617492,nssv1617486,nssv1617552,nssv1617574,nssv1617560,nssv1617456,nssv1617460,nssv1617448,nssv1617615,nssv1617410,nssv1617445,nssv1617604,nssv1617517,nssv1617435,nssv1617619,nssv1617470,nssv1617520,nssv1617461,nssv1617590,nssv1617539,nssv1617412,nssv1617479,nssv1617603,nssv1617631,nssv1617568 M 270 208 0 CROCC NA06985,NA06991,NA07022,NA07029,NA07034,NA07048,NA07345,NA10835,NA10838,NA10846,NA10847,NA10851,NA10854,NA10855,NA10857,NA10860,NA10861,NA10863,NA11831,NA11832,NA11840,NA11992,NA11994,NA12003,NA12004,NA12005,NA12006,NA12044,NA12056,NA12057,NA12144,NA12154,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12717,NA12740,NA12751,NA12752,NA12753,NA12760,NA12762,NA12812,NA12813,NA12814,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA18500,NA18501,NA18502,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18515,NA18516,NA18517,NA18521,NA18522,NA18524,NA18526,NA18529,NA18532,NA18537,NA18540,NA18542,NA18545,NA18550,NA18555,NA18558,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18594,NA18603,NA18605,NA18612,NA18620,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18862,NA18870,NA18871,NA18872,NA18912,NA18913,NA18914,NA18942,NA18943,NA18944,NA18945,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18997,NA18998,NA18999,NA19000,NA19005,NA19007,NA19012,NA19093,NA19094,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19119,NA19120,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19172,NA19192,NA19193,NA19194,NA19200,NA19201,NA19202,NA19203,NA19204,NA19205,NA19206,NA19208,NA19209,NA19211,NA19221,NA19222,NA19223,NA19239,NA19240 nsv6320835 1 17196896 17207195 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201608 M 19652 1 0 "" dgv106n223 1 17198596 17275595 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6334720,nsv6316574,nsv6328156 M 19652 3 0 CROCC nsv954852 1 17198701 17209300 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003139 M 1 1 0 "" BILGI_BIOE nsv1077143 1 17200410 17200465 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764423 M 1 0 1 "" KWP1 nsv1137734 1 17200411 17200465 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995108,nssv3969755 M 2 0 2 "" KWS1,KWS2 nsv5828613 1 17201604 17218082 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458563,nssv17456818 M 914 0 0 "" nsv6334920 1 17201696 17203495 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201612 M 19652 1 0 "" nsv6319849 1 17201796 17205795 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201614 M 19652 1 0 "" nsv1076178 1 17201940 17202000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765604 M 1 0 1 "" KWP1 nsv1008351 1 17203485 17236258 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468385,nssv3480147,nssv3477663,nssv3469546,nssv3482661,nssv3465556 M 11257 1 5 "" dgv112n100 1 17203485 17248386 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011411,nsv1006185,nsv1012168,nsv1011785,nsv1014469,nsv1006571,nsv1006653,nsv1004370,nsv1004806,nsv1005092 M 11257 0 14 "" dgv113n100 1 17203485 17261251 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000445,nsv1003988,nsv1009920,nsv1006577 M 11257 6 0 CROCC dgv114n100 1 17203485 17262235 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997581,nsv1010879,nsv1003420,nsv1009055,nsv1012863,nsv1004714,nsv1013140,nsv1007034 M 11257 88 88 CROCC dgv115n100 1 17203485 17262235 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008910,nsv1001034,nsv1002717,nsv1002908,nsv1002932,nsv1001379,nsv1011835,nsv1005607,nsv1006216,nsv1013372,nsv999057,nsv999431,nsv999493,nsv1010636,nsv1013913,nsv1011009 M 11257 0 39 CROCC dgv116n100 1 17203485 17276229 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998222,nsv1012812,nsv999974 M 11257 32 6 CROCC nsv1075649 1 17204183 17204248 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765494 M 1 0 1 "" KWP1 nsv1133816 1 17204184 17204248 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982418,nssv3970141 M 2 0 2 "" KWS1,KWS2 nsv5573884 1 17206157 17206661 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061279 M 35 0 1 "" HG00732 nsv6550708 1 17207074 17207496 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248055 M 19652 0 0 "" esv3674506 1 17207506 17207661 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496260 M 20 0 0 "" dgv23n67 1 17207577 17272607 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821821,nsv821832 M 31 2 0 CROCC NA18547,NA18592 dgv30n209 1 17207677 17221810 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5828527,nsv5828614 M 914 0 0 "" nsv433184 1 17208451 17263377 CNV loss Cooper_et_al_2008 18776910 SNP array nssv463065 M 9 0 1 CROCC NA12156 dgv12e214 1 17208619 17225378 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585350,esv3585349 M 2504 1833 0 "" HG00096,HG00097,HG00100,HG00101,HG00102,HG00103,HG00106,HG00108,HG00110,HG00112,HG00113,HG00114,HG00115,HG00116,HG00117,HG00119,HG00120,HG00122,HG00126,HG00127,HG00128,HG00129,HG00130,HG00131,HG00132,HG00133,HG00137,HG00140,HG00141,HG00143,HG00145,HG00146,HG00148,HG00149,HG00150,HG00151,HG00154,HG00155,HG00157,HG00158,HG00159,HG00171,HG00174,HG00176,HG00177,HG00178,HG00179,HG00180,HG00181,HG00182,HG00183,HG00185,HG00186,HG00188,HG00190,HG00231,HG00233,HG00234,HG00235,HG00236,HG00237,HG00238,HG00239,HG00240,HG00242,HG00243,HG00244,HG00246,HG00255,HG00257,HG00259,HG00261,HG00262,HG00263,HG00265,HG00266,HG00267,HG00273,HG00275,HG00277,HG00280,HG00281,HG00282,HG00284,HG00290,HG00308,HG00309,HG00310,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00326,HG00327,HG00328,HG00330,HG00331,HG00335,HG00336,HG00337,HG00338,HG00341,HG00343,HG00344,HG00345,HG00346,HG00349,HG00353,HG00356,HG00357,HG00358,HG00360,HG00361,HG00366,HG00369,HG00371,HG00372,HG00375,HG00376,HG00378,HG00379,HG00380,HG00382,HG00384,HG00403,HG00404,HG00406,HG00410,HG00419,HG00421,HG00422,HG00428,HG00436,HG00437,HG00442,HG00443,HG00445,HG00446,HG00448,HG00449,HG00452,HG00457,HG00458,HG00463,HG00472,HG00473,HG00475,HG00478,HG00479,HG00500,HG00513,HG00524,HG00525,HG00530,HG00531,HG00534,HG00536,HG00542,HG00543,HG00551,HG00556,HG00560,HG00565,HG00566,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00593,HG00595,HG00596,HG00598,HG00599,HG00607,HG00611,HG00613,HG00614,HG00619,HG00620,HG00622,HG00623,HG00625,HG00626,HG00628,HG00629,HG00631,HG00632,HG00634,HG00637,HG00640,HG00641,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00674,HG00675,HG00683,HG00684,HG00689,HG00692,HG00693,HG00698,HG00699,HG00701,HG00704,HG00705,HG00707,HG00708,HG00717,HG00728,HG00731,HG00734,HG00736,HG00737,HG00740,HG00742,HG00743,HG00766,HG00844,HG00851,HG00864,HG00867,HG00879,HG00881,HG00956,HG00978,HG00982,HG01028,HG01031,HG01046,HG01047,HG01051,HG01052,HG01054,HG01055,HG01060,HG01061,HG01063,HG01064,HG01066,HG01067,HG01070,HG01072,HG01073,HG01075,HG01077,HG01079,HG01080,HG01082,HG01083,HG01085,HG01086,HG01088,HG01089,HG01092,HG01094,HG01095,HG01097,HG01098,HG01101,HG01102,HG01104,HG01105,HG01107,HG01108,HG01110,HG01111,HG01112,HG01119,HG01121,HG01122,HG01125,HG01130,HG01131,HG01133,HG01134,HG01136,HG01137,HG01139,HG01148,HG01161,HG01162,HG01164,HG01167,HG01168,HG01170,HG01171,HG01173,HG01174,HG01177,HG01182,HG01183,HG01187,HG01188,HG01190,HG01191,HG01197,HG01198,HG01200,HG01204,HG01205,HG01247,HG01250,HG01253,HG01254,HG01259,HG01260,HG01269,HG01271,HG01275,HG01277,HG01280,HG01281,HG01284,HG01286,HG01303,HG01305,HG01308,HG01312,HG01325,HG01326,HG01345,HG01348,HG01350,HG01351,HG01353,HG01354,HG01356,HG01357,HG01359,HG01363,HG01366,HG01369,HG01372,HG01374,HG01377,HG01383,HG01384,HG01390,HG01392,HG01393,HG01395,HG01396,HG01398,HG01403,HG01405,HG01413,HG01414,HG01431,HG01437,HG01441,HG01443,HG01444,HG01447,HG01455,HG01456,HG01459,HG01461,HG01462,HG01464,HG01465,HG01468,HG01474,HG01479,HG01485,HG01486,HG01488,HG01489,HG01491,HG01492,HG01494,HG01495,HG01500,HG01501,HG01503,HG01504,HG01507,HG01510,HG01512,HG01513,HG01515,HG01518,HG01519,HG01521,HG01522,HG01524,HG01525,HG01527,HG01531,HG01536,HG01537,HG01550,HG01565,HG01566,HG01571,HG01577,HG01583,HG01586,HG01589,HG01593,HG01595,HG01596,HG01597,HG01598,HG01599,HG01600,HG01602,HG01603,HG01605,HG01606,HG01608,HG01610,HG01612,HG01613,HG01615,HG01619,HG01620,HG01623,HG01624,HG01625,HG01626,HG01628,HG01630,HG01631,HG01668,HG01673,HG01675,HG01676,HG01678,HG01679,HG01684,HG01694,HG01695,HG01697,HG01699,HG01704,HG01705,HG01707,HG01708,HG01710,HG01746,HG01756,HG01761,HG01762,HG01765,HG01766,HG01767,HG01768,HG01770,HG01773,HG01775,HG01776,HG01777,HG01779,HG01781,HG01783,HG01789,HG01790,HG01794,HG01795,HG01798,HG01799,HG01800,HG01801,HG01802,HG01804,HG01805,HG01806,HG01807,HG01808,HG01809,HG01810,HG01811,HG01812,HG01813,HG01815,HG01816,HG01817,HG01840,HG01842,HG01843,HG01844,HG01845,HG01846,HG01847,HG01848,HG01849,HG01850,HG01851,HG01852,HG01853,HG01855,HG01857,HG01858,HG01859,HG01860,HG01861,HG01862,HG01863,HG01864,HG01866,HG01868,HG01869,HG01870,HG01871,HG01872,HG01873,HG01874,HG01878,HG01879,HG01880,HG01883,HG01885,HG01886,HG01889,HG01892,HG01893,HG01894,HG01912,HG01914,HG01915,HG01917,HG01921,HG01927,HG01933,HG01936,HG01938,HG01941,HG01945,HG01947,HG01948,HG01950,HG01953,HG01958,HG01961,HG01965,HG01970,HG01973,HG01976,HG01980,HG01985,HG01988,HG01989,HG01990,HG01991,HG01992,HG02003,HG02009,HG02010,HG02012,HG02013,HG02016,HG02017,HG02019,HG02020,HG02023,HG02025,HG02028,HG02029,HG02031,HG02035,HG02040,HG02047,HG02048,HG02049,HG02050,HG02052,HG02053,HG02054,HG02057,HG02058,HG02061,HG02064,HG02067,HG02069,HG02070,HG02072,HG02073,HG02076,HG02078,HG02079,HG02081,HG02082,HG02084,HG02085,HG02086,HG02087,HG02089,HG02090,HG02095,HG02102,HG02107,HG02108,HG02111,HG02121,HG02122,HG02127,HG02128,HG02130,HG02131,HG02134,HG02136,HG02137,HG02138,HG02139,HG02140,HG02141,HG02143,HG02144,HG02147,HG02151,HG02152,HG02153,HG02154,HG02155,HG02156,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esv29988 1 17209332 17252167 CNV loss Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv84227 M 2 0 1 CROCC HuRef dgv117n100 1 17209591 17262235 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014213,nsv1011151,nsv1003197,nsv1010217,nsv1007304 M 11257 13 18 CROCC esv2421455 1 17209603 17267496 CNV duplication Altshuler_et_al_2010 20811451 SNP array essv5075339,essv5047063,essv5130303,essv5092490,essv5065233,essv5047731,essv5044467,essv5144065,essv5010821,essv5111803,essv5026732,essv5095692,essv5133764,essv5057556,essv5030908,essv5004468,essv5063353,essv5098055,essv5097100,essv5114344,essv5005212,essv5083668,essv5093977,essv5070319,essv5134163,essv5101825,essv5028158,essv5097008,essv5014551,essv5048297,essv5108682,essv5155913,essv5102812,essv5083755,essv5065850,essv5124332,essv5034553,essv5103286,essv5037942,essv5074373,essv5105478,essv5002999,essv5047270,essv5078646,essv5008849,essv5047389,essv5114680,essv5006977,essv5047460,essv5118129,essv5148048,essv5117115,essv5004735,essv5008007,essv5055998,essv5116384,essv5055587,essv5127846,essv5066756,essv5051143,essv5107567,essv5118836,essv5092788,essv5155086,essv5079342,essv5052144,essv5017049,essv5127811,essv5030022,essv5142986,essv5077558,essv5114037,essv5157953,essv5054964,essv5038258,essv5065477,essv5028085,essv5009826,essv5042829,essv5107641,essv5060750,essv5052461,essv5087882,essv5159156,essv5025020,essv5062523,essv5024608,essv5056874,essv5031423,essv5130485,essv5092816,essv5089240,essv5158627,essv5054086,essv5139651,essv5043721,essv5072970,essv5160036,essv5033589,essv5157311,essv5091035,essv5103855,essv5104936,essv5081290,essv5002508,essv5048632,essv5028804,essv5058964,essv5056012,essv5111201,essv5153097,essv5055362,essv5029838,essv5157609,essv5160258,essv5146549,essv5019386,essv5139328,essv5033120,essv5102550,essv5103379,essv5084521,essv5147309,essv5100179,essv5085695,essv5021954,essv5096758,essv5026768,essv5104217,essv5133749,essv5129917,essv5043975,essv5007467,essv5030388,essv5131352,essv5076924,essv5005544,essv5117231,essv5030592,essv5039612,essv5046246,essv5051979,essv5150465,essv5022891,essv5136108,essv5098012,essv5098226,essv5016687,essv5091264,essv5016821,essv5157797,essv5087014,essv5119616,essv5041980,essv5045249,essv5035906,essv5058603,essv5137317,essv5126598,essv5123426,essv5156750,essv5103826,essv5112366,essv5080865,essv5114280,essv5117284,essv5066867,essv5010067,essv5112594,essv5027775,essv5158152,essv5039355,essv5152984,essv5023433,essv5150313,essv5072037,essv5032316,essv5133460,essv5102792,essv5134811,essv5022740,essv5040328,essv5129041,essv5101859,essv5088822,essv5075932,essv5122596,essv5042625,essv5064110,essv5021911,essv5068855,essv5080701,essv5125345,essv5061722,essv5092709,essv5041804,essv5099962,essv5124285,essv5123032,essv5049281,essv5072329,essv5009191,essv5061673,essv5139461,essv5094689,essv5113280,essv5125312,essv5007344,essv5138642,essv5130759,essv5028380,essv5025494,essv5117269,essv5067082,essv5145666,essv5090959,essv5147413,essv5083511,essv5119957,essv5011659,essv5015446,essv5124242,essv5012961,essv5021982,essv5115772,essv5090302,essv5041169,essv5154202,essv5143686,essv5085316,essv5006490,essv5152363,essv5056267,essv5003961,essv5016348,essv5081843,essv5117492,essv5032170,essv5122188,essv5060841,essv5119277,essv5091949,essv5079911,essv5009673,essv5145780,essv5081176,essv5146134,essv5136215,essv5101186,essv5095894,essv5089140,essv5060560,essv5111876,essv5030387,essv5143147,essv5152854,essv5041786,essv5098315,essv5096754,essv5143890,essv5022534,essv5017890,essv5020555,essv5159889,essv5048317,essv5108762,essv5131593,essv5006519,essv5008791,essv5090873,essv5041116,essv5007479,essv5029931,essv5114829,essv5134440,essv5029426,essv5130484,essv5020252,essv5151178,essv5097936,essv5033107,essv5135695,essv5144538,essv5075006,essv5134195,essv5135140,essv5076075,essv5106778,essv5064272,essv5118820,essv5133752,essv5071137,essv5079599,essv5020012,essv5026401,essv5114019,essv5096519,essv5092744,essv5060943,essv5148716,essv5141602,essv5095343,essv5007504,essv5032469,essv5084421,essv5094626,essv5149250,essv5088695,essv5083861,essv5136415,essv5149086,essv5059549,essv5063672,essv5040075,essv5012897,essv5121681,essv5037850,essv5147835,essv5075073,essv5016066,essv5006951,essv5079835,essv5079291,essv5146556,essv5071800,essv5046441,essv5110435,essv5054679,essv5080108,essv5040787,essv5081263,essv5045959,essv5111040,essv5032089,essv5122630,essv5077016,essv5019727,essv5148185,essv5147022,essv5123097,essv5159643,essv5128437,essv5105240,essv5014694,essv5084952,essv5002754,essv5106194,essv5139551,essv5024108,essv5072259,essv5036337,essv5028561,essv5082948,essv5054059,essv5147986,essv5027457,essv5084910,essv5159082,essv5064258,essv5078913,essv5130731,essv5098676,essv5138662,essv5136324,essv5065387,essv5079108,essv5091838,essv5117452,essv5157378,essv5065490,essv5079526,essv5062035,essv5159525,essv5004579,essv5069984,essv5142022,essv5101695,essv5006744,essv5038223,essv5160566,essv5078527,essv5119538,essv5072067,essv5031413,essv5130948,essv5009278,essv5065875,essv5125769,essv5036548,essv5035947,essv5086846,essv5086014,essv5049622,essv5029256,essv5020880,essv5019407,essv5027238,essv5121988,essv5105600,essv5017352,essv5002576,essv5037077,essv5088248,essv5051017,essv5142604,essv5088205,essv5120412,essv5103479,essv5051479,essv5037760,essv5115989,essv5024133,essv5051588,essv5124993,essv5086951,essv5071772,essv5022960,essv5119235,essv5157199,essv5075234,essv5039926,essv5113019,essv5045814,essv5074466,essv5044837,essv5133688,essv5090458,essv5117088,essv5104214,essv5026386,essv5041206,essv5007786,essv5148464,essv5089028,essv5002555,essv5027419,essv5096160,essv5140684,essv5017332,essv5044898,essv5097885,essv5077378,essv5089873,essv5102184,essv5056674,essv5064028,essv5119844,essv5042300,essv5005847,essv5112549,essv5032830,essv5035516,essv5109355,essv5002204,essv5045712,essv5089151,essv5090637,essv5113041,essv5110166,essv5147504,essv5130528,essv5111478,essv5129083,essv5048475,essv5021994,essv5037484,essv5014180,essv5071647,essv5070821,essv5049316,essv5044592,essv5013009,essv5006486,essv5049633,essv5117383,essv5050900,essv5157006,essv5156413,essv5100525,essv5145356,essv5147205,essv5107317,essv5017379,essv5105480,essv5111824,essv5071290,essv5100613,essv5150991,essv5103415,essv5053715,essv5048396,essv5019753,essv5078659,essv5046634,essv5143110,essv5104436,essv5096648,essv5048230,essv5010139,essv5034838,essv5117045,essv5096769,essv5123038,essv5160797,essv5123887,essv5114781,essv5043100,essv5074418,essv5061003,essv5085572,essv5113637,essv5008077,essv5090798,essv5078545,essv5046901,essv5129159,essv5058801,essv5007779,essv5047004,essv5091243,essv5121588,essv5155596,essv5084379,essv5061190,essv5152822,essv5109258,essv5086298,essv5085246,essv5016117,essv5051739,essv5103771,essv5105050,essv5018074,essv5143625,essv5043135,essv5146796,essv5046748,essv5157375,essv5127120,essv5039821,essv5121813,essv5045095,essv5060546,essv5097921,essv5055357,essv5115978,essv5021628,essv5037567,essv5086652,essv5056651,essv5076493,essv5014507,essv5016691,essv5141584,essv5041587,essv5009199,essv5008648,essv5047555,essv5124020,essv5030042,essv5133449,essv5099230,essv5018172,essv5066068,essv5083100,essv5095836,essv5127109,essv5047562,essv5133268,essv5086531,essv5022653,essv5086692,essv5135969,essv5087089,essv5128349,essv5160425,essv5124305,essv5102014,essv5128838,essv5051338,essv5103759,essv5151985,essv5160920,essv5032394,essv5093178,essv5086003,essv5106798,essv5004444,essv5095772,essv5120827,essv5045122,essv5114338,essv5060130,essv5083720,essv5049144,essv5094424,essv5007838,essv5123196,essv5057110,essv5083014,essv5058264,essv5071444,essv5146659,essv5116817,essv5106448,essv5084328,essv5112080,essv5128315,essv5135966,essv5009440,essv5015131,essv5105512,essv5137608,essv5109059,essv5064371,essv5064968,essv5014810,essv5103778,essv5051919,essv5035199,essv5135370,essv5151782,essv5128868,essv5093717,essv5134265,essv5130594,essv5146488,essv5076373,essv5114395,essv5024519,essv5084304,essv5076127,essv5123076,essv5003922,essv5153278,essv5018174,essv5115299,essv5133655,essv5112506,essv5155101,essv5032838,essv5011869,essv5074168,essv5134308,essv5098068,essv5062068,essv5033382,essv5107685,essv5115933,essv5039517,essv5103961,essv5051004,essv5084771,essv5134482,essv5136757,essv5110707,essv5019668,essv5057234,essv5048039,essv5121078,essv5007503,essv5156813,essv5117997,essv5152392,essv5135041,essv5106735,essv5019224,essv5057016,essv5152014,essv5077283,essv5139716,essv5095375,essv5040406,essv5130918,essv5006182,essv5103126,essv5061412,essv5117717,essv5081270,essv5091443,essv5149295,essv5031308,essv5070553,essv5006467,essv5110272,essv5003158,essv5021138,essv5040865,essv5153944,essv5127759,essv5096269,essv5017794,essv5071124,essv5063859,essv5130675,essv5048257,essv5088408,essv5027231,essv5107122,essv5044987,essv5065965,essv5064411,essv5093849,essv5121029,essv5052108,essv5065940,essv5110120,essv5141036,essv5059367,essv5030772,essv5076471,essv5126792,essv5050841,essv5052392,essv5054193,essv5015676,essv5069059,essv5059149,essv5063794,essv5088681,essv5024993,essv5136376,essv5021931,essv5106741,essv5064954,essv5058107,essv5046536,essv5003156,essv5054318,essv5045172,essv5057304,essv5153800,essv5109088,essv5073684,essv5021274,essv5076597,essv5116575,essv5065761,essv5050835,essv5082199,essv5106431,essv5121456,essv5101502,essv5113257,essv5053913,essv5058624,essv5028001,essv5024780,essv5069245,essv5069410,essv5128068,essv5036913,essv5057255,essv5031356,essv5053053,essv5127738,essv5099226,essv5102689,essv5008000,essv5101426,essv5056899,essv5110538,essv5138727,essv5105808,essv5099069,essv5159099,essv5081157,essv5093740,essv5042364,essv5076785,essv5055429,essv5039437,essv5094810,essv5032435,essv5050331,essv5075151,essv5099314,essv5010456,essv5066838,essv5065977,essv5065791,essv5119346,essv5140347,essv5113457,essv5148378,essv5048138,essv5016121,essv5055154,essv5105069,essv5103322,essv5051893,essv5030657,essv5104607,essv5066540,essv5004085,essv5121490,essv5145900,essv5105910,essv5085767,essv5085965,essv5059805,essv5142856,essv5096642,essv5129387,essv5090795,essv5038858,essv5082429,essv5004269,essv5136646,essv5026223,essv5101917,essv5125865,essv5030913,essv5085115,essv5042763,essv5115530,essv5059015,essv5014326,essv5047898,essv5015485,essv5053255,essv5045942,essv5115411,essv5056144,essv5026459,essv5032473,essv5126766,essv5058411,essv5158666,essv5098036,essv5067874,essv5054766,essv5004154,essv5085304,essv5026844,essv5099089,essv5120699,essv5122841,essv5132756,essv5092468,essv5104802,essv5012630,essv5035883,essv5075589,essv5009030,essv5016987,essv5152305,essv5048413,essv5018177,essv5018347 M 1184 850 0 CROCC NA06984,NA06985,NA06986,NA06991,NA06995,NA06997,NA07000,NA07014,NA07022,NA07031,NA07045,NA07051,NA07345,NA07346,NA07347,NA07349,NA07435,NA10835,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10853,NA10854,NA10855,NA10861,NA10863,NA10865,NA11831,NA11832,NA11840,NA11843,NA11891,NA11892,NA11918,NA11920,NA11931,NA11992,NA11994,NA12003,NA12006,NA12044,NA12045,NA12056,NA12057,NA12144,NA12154,NA12234,NA12248,NA12264,NA12273,NA12275,NA12282,NA12286,NA12287,NA12335,NA12340,NA12341,NA12342,NA12344,NA12347,NA12375,NA12383,NA12399,NA12400,NA12413,NA12489,NA12708,NA12740,NA12748,NA12749,NA12751,NA12752,NA12753,NA12760,NA12762,NA12763,NA12766,NA12776,NA12778,NA12812,NA12813,NA12814,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12865,NA12872,NA12873,NA12874,NA12875,NA12877,NA12889,NA12890,NA17965,NA17966,NA17967,NA17968,NA17969,NA17970,NA17974,NA17975,NA17976,NA17977,NA17980,NA17981,NA17982,NA17983,NA17986,NA17987,NA17988,NA17989,NA17990,NA17993,NA17995,NA17996,NA17997,NA17998,NA17999,NA18101,NA18102,NA18105,NA18106,NA18107,NA18108,NA18109,NA18112,NA18117,NA18118,NA18120,NA18122,NA18124,NA18125,NA18128,NA18129,NA18131,NA18132,NA18133,NA18134,NA18135,NA18136,NA18138,NA18139,NA18140,NA18144,NA18146,NA18150,NA18152,NA18153,NA18155,NA18156,NA18157,NA18158,NA18159,NA18160,NA18161,NA18166,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18505,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18515,NA18516,NA18517,NA18518,NA18520,NA18524,NA18526,NA18529,NA18532,NA18534,NA18537,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18550,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18566,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18610,NA18612,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18622,NA18623,NA18624,NA18626,NA18627,NA18628,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18647,NA18670,NA18682,NA18685,NA18689,NA18694,NA18704,NA18740,NA18745,NA18747,NA18748,NA18749,NA18854,NA18855,NA18857,NA18859,NA18860,NA18862,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18910,NA18911,NA18912,NA18914,NA18916,NA18923,NA18924,NA18925,NA18930,NA18933,NA18935,NA18939,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18951,NA18952,NA18953,NA18954,NA18955,NA18956,NA18957,NA18959,NA18960,NA18961,NA18963,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18987,NA18990,NA18991,NA18993,NA18994,NA18997,NA18999,NA19000,NA19001,NA19002,NA19005,NA19007,NA19010,NA19027,NA19038,NA19044,NA19046,NA19054,NA19056,NA19059,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19077,NA19079,NA19080,NA19081,NA19083,NA19084,NA19085,NA19086,NA19088,NA19093,NA19094,NA19095,NA19097,NA19098,NA19099,NA19101,NA19102,NA19103,NA19114,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19139,NA19140,NA19141,NA19142,NA19144,NA19146,NA19149,NA19150,NA19151,NA19152,NA19153,NA19161,NA19172,NA19175,NA19176,NA19179,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19203,NA19204,NA19206,NA19208,NA19209,NA19211,NA19213,NA19214,NA19215,NA19221,NA19222,NA19223,NA19224,NA19225,NA19226,NA19235,NA19236,NA19240,NA19247,NA19248,NA19249,NA19256,NA19257,NA19258,NA19307,NA19308,NA19309,NA19310,NA19311,NA19313,NA19315,NA19316,NA19317,NA19318,NA19324,NA19327,NA19328,NA19332,NA19334,NA19346,NA19347,NA19350,NA19352,NA19359,NA19360,NA19372,NA19373,NA19374,NA19376,NA19377,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19391,NA19393,NA19394,NA19396,NA19398,NA19399,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19443,NA19444,NA19445,NA19448,NA19451,NA19452,NA19456,NA19457,NA19463,NA19467,NA19468,NA19471,NA19474,NA19625,NA19649,NA19650,NA19651,NA19653,NA19657,NA19658,NA19659,NA19662,NA19663,NA19664,NA19665,NA19675,NA19677,NA19678,NA19680,NA19685,NA19686,NA19703,NA19704,NA19705,NA19708,NA19712,NA19713,NA19714,NA19719,NA19720,NA19721,NA19723,NA19724,NA19726,NA19748,NA19750,NA19751,NA19755,NA19756,NA19759,NA19761,NA19762,NA19770,NA19771,NA19772,NA19773,NA19777,NA19789,NA19794,NA19796,NA19828,NA19834,NA19835,NA19836,NA19901,NA19902,NA19904,NA19914,NA19915,NA19916,NA19917,NA19918,NA19921,NA19982,NA19983,NA20126,NA20129,NA20279,NA20282,NA20284,NA20287,NA20288,NA20289,NA20290,NA20291,NA20295,NA20297,NA20300,NA20301,NA20302,NA20317,NA20319,NA20322,NA20332,NA20333,NA20334,NA20335,NA20336,NA20337,NA20341,NA20347,NA20348,NA20349,NA20350,NA20356,NA20357,NA20358,NA20363,NA20502,NA20505,NA20506,NA20508,NA20510,NA20512,NA20517,NA20518,NA20521,NA20522,NA20525,NA20527,NA20528,NA20529,NA20534,NA20540,NA20541,NA20542,NA20543,NA20581,NA20582,NA20586,NA20588,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20761,NA20765,NA20766,NA20769,NA20771,NA20772,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20792,NA20795,NA20796,NA20799,NA20800,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20815,NA20816,NA20818,NA20819,NA20826,NA20828,NA20846,NA20849,NA20851,NA20853,NA20854,NA20856,NA20858,NA20866,NA20869,NA20870,NA20871,NA20872,NA20873,NA20883,NA20885,NA20887,NA20888,NA20890,NA20891,NA20892,NA20894,NA20906,NA20907,NA20911,NA21086,NA21088,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21102,NA21103,NA21106,NA21108,NA21109,NA21113,NA21115,NA21118,NA21119,NA21142,NA21143,NA21144,NA21295,NA21297,NA21300,NA21301,NA21302,NA21303,NA21307,NA21309,NA21316,NA21318,NA21333,NA21336,NA21344,NA21352,NA21353,NA21355,NA21357,NA21359,NA21360,NA21361,NA21362,NA21363,NA21364,NA21365,NA21366,NA21368,NA21370,NA21371,NA21378,NA21379,NA21381,NA21382,NA21383,NA21384,NA21385,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21402,NA21403,NA21404,NA21405,NA21408,NA21414,NA21415,NA21418,NA21421,NA21423,NA21435,NA21436,NA21439,NA21440,NA21441,NA21447,NA21448,NA21451,NA21454,NA21455,NA21457,NA21473,NA21476,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21489,NA21490,NA21491,NA21493,NA21494,NA21509,NA21512,NA21513,NA21517,NA21520,NA21521,NA21522,NA21523,NA21525,NA21526,NA21527,NA21528,NA21529,NA21574,NA21575,NA21576,NA21577,NA21580,NA21582,NA21587,NA21596,NA21597,NA21600,NA21601,NA21608,NA21611,NA21614,NA21615,NA21616,NA21617,NA21631,NA21632,NA21634,NA21635,NA21648,NA21678,NA21682,NA21686,NA21689,NA21693,NA21716,NA21717,NA21718,NA21723,NA21733,NA21738,NA21739,NA21768,NA21776,NA21784,NA21825 esv3663147 1 17210386 17210386 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486036 M 20 1 0 "" nsv6554913 1 17210422 17211088 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248056 M 19652 0 0 "" nsv3321354 1 17211196 17226395 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14476550,nssv14475203 M 14 2 0 "" CHM1,NA19240 dgv118n100 1 17212702 17276229 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000008,nsv997739 M 11257 4 0 CROCC nsv545673 1 17213883 17218478 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710898 M 17421 0 1 "" nsv834280 1 17214713 17449501 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443706,nssv1443717,nssv1443728,nssv1443741,nssv1443752,nssv1443673,nssv1443684,nssv1443695 M 95 0 8 ATP13A2,CROCC,MFAP2,PADI2,SDHB nsv4459686 1 17214877 17214878 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028724 M 10847 1 0 "" nsv6323788 1 17214996 17224595 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201617 M 19652 1 0 "" nsv4034635 1 17215384 17215533 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850067 M 10847 0 1 "" nsv4045122 1 17215598 17215670 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850452 M 10847 0 1 "" nsv6321198 1 17215896 17240395 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201618 M 19652 1 0 "" nsv6333663 1 17216196 17221795 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201619 M 19652 1 0 "" nsv437207 1 17217265 17257302 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467088 M 60 0 1 CROCC NA19208 dgv119n100 1 17217391 17259308 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1003614,nsv1007159,nsv1004952 M 11257 4 0 CROCC dgv120n100 1 17217391 17324433 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000630,nsv1005792,nsv1013544 M 11257 3 0 ATP13A2,CROCC,MFAP2 dgv107n223 1 17218196 17221895 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6325119,nsv6322192 M 19652 2 0 "" dgv167n54 1 17219273 17250573 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545675,nsv545674 M 17421 0 2 CROCC nsv954853 1 17222101 17231500 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003140 M 1 1 0 "" BILGI_BIOE dgv108n223 1 17222396 17251595 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6325493,nsv6319691 M 19652 2 0 CROCC nsv1128591 1 17222400 17275700 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960502 M 2 1 0 CROCC KWS1 nsv5879358 1 17222514 17222691 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364822 M 914 0 1 "" nsv6041358 1 17222653 17222653 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522062 M 405 1 0 "" dgv24n67 1 17222692 17272635 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821843,nsv821887,nsv821876 M 31 3 0 CROCC NA18552,NA18566,NA18947 nsv5828531 1 17223211 17229101 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451100,nssv17465047 M 914 0 0 "" nsv5828402 1 17223212 17235429 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461550,nssv17464633 M 914 0 0 "" nsv6334568 1 17224096 17225395 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201625 M 19652 1 0 "" nsv1004093 1 17224958 17258127 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477505,nssv3479262,nssv3472352 M 11257 1 2 CROCC dgv121n100 1 17224958 17262235 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1004027,nsv1004277,nsv1011902,nsv1001263,nsv1005146 M 11257 0 7 CROCC dgv168n54 1 17225264 17259278 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545679,nsv545676 M 17421 0 2 CROCC nsv6552514 1 17226707 17226839 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248059 M 19652 0 0 "" nsv4516862 1 17226788 17226856 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963815 M 10847 1 0 "" nsv1119666 1 17226869 17226964 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982111 M 2 0 1 "" KWS1 nsv997723 1 17228694 17248386 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479153,nssv3470882,nssv3473113 M 11257 0 3 "" dgv56e59 1 17228865 17230363 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3351872,esv3378698 M 185 2 0 "" NA12878,NA12891 dgv25n67 1 17229814 17261298 CNV gain Park_et_al_2010 20364138 Oligo aCGH nsv821898,nsv821865,nsv821854 M 31 3 0 CROCC AK2,NA18537,NA18972 nsv545677 1 17229991 17242731 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710902 M 17421 0 1 "" nsv5828615 1 17231021 17244973 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456215,nssv17467333 M 914 0 0 "" nsv1077155 1 17231733 17231802 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770138 M 1 0 1 "" KWP1 nsv1122304 1 17231734 17231802 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969756 M 2 0 1 "" KWS2 nsv1133817 1 17232419 17232473 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982112,nssv3969757 M 2 0 2 "" KWS1,KWS2 esv3431776 1 17232565 17234663 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692070 M 185 1 0 "" NA12891 esv3342657 1 17233096 17233846 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740943 M 185 1 0 "" NA19240 nsv545678 1 17233203 17247518 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710906,nssv710903,nssv710905,nssv710904 M 17421 0 4 "" esv3406906 1 17233565 17235263 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692071 M 185 1 0 "" NA12878 nsv5430863 1 17233903 17234221 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899777 M 3202 0 1 "" dgv109n223 1 17235396 17275695 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6335490,nsv6318239,nsv6324988 M 19652 3 0 CROCC nsv1006384 1 17235672 17253526 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467303 M 11257 0 1 CROCC dgv122n100 1 17235672 17261876 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998844,nsv1013867,nsv1000426 M 11257 5 0 CROCC dgv123n100 1 17235672 17262235 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997427,nsv997518,nsv997816,nsv998672,nsv1000314,nsv998774,nsv998767,nsv1013296,nsv1013736,nsv1003807,nsv1003831,nsv1002017,nsv1005762,nsv1009905,nsv1004895,nsv1009231 M 11257 0 34 CROCC dgv124n100 1 17235672 17262235 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012684,nsv1008279,nsv1013207,nsv1005265,nsv1005306 M 11257 22 28 CROCC nsv5568349 1 17235766 17235835 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061776 M 35 0 1 "" HG03486 nsv6316757 1 17235896 17247695 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201628 M 19652 1 0 "" nsv4040942 1 17235967 17236050 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850460 M 10847 0 1 "" nsv508947 1 17236312 17337610 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619776,nssv623774 M 4 2 0 ATP13A2,CROCC,MFAP2 NA10860,NA18994 nsv6319846 1 17236753 17237363 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201630 M 19652 1 0 "" nsv6550225 1 17237031 17237373 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248067 M 19652 0 0 "" dgv13e214 1 17238417 17266696 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585353,esv3585354 M 2504 1826 0 CROCC 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dgv169n54 1 17238694 17257302 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545683,nsv545680 M 17421 0 2 CROCC dgv170n54 1 17238694 17264365 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545682,nsv545684,nsv545681,nsv545685 M 17421 0 4 CROCC dgv125n100 1 17239455 17257931 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014417,nsv1008214,nsv1010177 M 11257 0 7 CROCC nsv1002599 1 17239455 17295200 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481639 M 11257 1 0 CROCC nsv5618871 1 17239815 17239815 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061777 M 35 1 0 "" HG03486 esv3892525 1 17239973 17282425 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25783921 M 3017 0 1 CROCC nsv6332689 1 17241196 17265195 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201632 M 19652 1 0 CROCC nsv6331473 1 17241296 17248295 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201633 M 19652 1 0 "" nsv5583104 1 17241691 17241795 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061778 M 35 0 1 "" HG03486 nsv1002613 1 17242354 17276229 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481654 M 11257 0 1 CROCC nsv5955235 1 17242678 17242678 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17359866 M 914 1 0 "" dgv126n100 1 17245201 17262235 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000311,nsv1001522,nsv1008243,nsv1001234,nsv1003945 M 11257 0 7 CROCC nsv1004224 1 17245201 17262235 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3477575,nssv3469116,nssv3471310 M 11257 2 1 CROCC nsv5828720 1 17245274 17254649 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455880,nssv17456959 M 914 0 0 CROCC nsv5828617 1 17245474 17265313 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460579,nssv17463761 M 914 0 0 CROCC dgv171n54 1 17245635 17263377 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545689,nsv545688,nsv545687,nsv545686 M 17421 0 9 CROCC nsv5882794 1 17246913 17246977 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350480 M 914 0 1 "" nsv482201 1 17248445 17299474 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558562 M 1 1 0 CROCC KB1 nsv437208 1 17248885 17268329 CNV loss Conrad_et_al_2006 16327808 Oligo aCGH,SNP array nssv467089 M 60 0 1 CROCC NA19240 nsv4459565 1 17249029 17249030 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027757 M 10847 1 0 CROCC nsv438355 1 17253828 17265366 CNV loss McCarroll_et_al_2006 16468122 SNP array nssv469518,nssv469407,nssv469185,nssv469296 M 269 0 4 CROCC NA19207,NA19208,NA19238,NA19240 nsv471438 1 17254695 17281238 CNV gain Alkan_et_al_2009 19718026 Oligo aCGH,Sequencing nssv548300,nssv548311,nssv548289 M 3 3 0 CROCC JDW,NA18507,YH nsv1119667 1 17255435 17255488 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982113 M 2 0 1 CROCC KWS1 dgv127n100 1 17257305 17291882 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000171,nsv1012323 M 11257 0 2 CROCC nsv3321358 1 17259196 17280895 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14487183,nssv14485349,nssv14475787,nssv14486804,nssv14475849,nssv14477449,nssv14480260,nssv14481161,nssv14472359,nssv14476153 M 14 10 0 CROCC CHM1,HG00514,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv5873892 1 17260731 17260782 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361286 M 914 0 1 CROCC esv3663157 1 17260800 17260800 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486045 M 20 1 0 CROCC nsv5421340 1 17261026 17261601 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899779 M 3202 0 1 CROCC dgv14e214 1 17263114 17273513 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585355,esv3585356 M 2504 1828 0 CROCC 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HG02178,HG02179,HG02180,HG02181,HG02182,HG02184,HG02185,HG02186,HG02187,HG02190,HG02215,HG02219,HG02221,HG02223,HG02224,HG02232,HG02233,HG02238,HG02239,HG02250,HG02252,HG02253,HG02255,HG02256,HG02260,HG02262,HG02265,HG02266,HG02274,HG02275,HG02277,HG02281,HG02282,HG02284,HG02285,HG02286,HG02307,HG02308,HG02309,HG02312,HG02314,HG02315,HG02317,HG02318,HG02322,HG02323,HG02325,HG02332,HG02334,HG02337,HG02339,HG02343,HG02353,HG02355,HG02356,HG02364,HG02367,HG02371,HG02373,HG02375,HG02379,HG02380,HG02384,HG02385,HG02386,HG02389,HG02390,HG02392,HG02394,HG02395,HG02397,HG02398,HG02399,HG02401,HG02402,HG02406,HG02407,HG02408,HG02409,HG02410,HG02419,HG02420,HG02425,HG02427,HG02429,HG02433,HG02439,HG02442,HG02445,HG02450,HG02455,HG02461,HG02462,HG02464,HG02465,HG02470,HG02471,HG02476,HG02477,HG02479,HG02481,HG02484,HG02489,HG02490,HG02494,HG02496,HG02501,HG02502,HG02505,HG02508,HG02511,HG02512,HG02513,HG02522,HG02536,HG02537,HG02541,HG02545,HG02549,HG02554,HG02555,HG02557,HG02561,HG02562,HG02568,HG02571,HG02573,HG02574,HG02577,HG02580,HG02582,HG02585,HG02586,HG02588,HG02589,HG02594,HG02595,HG02597,HG02601,HG02604,HG02610,HG02611,HG02613,HG02620,HG02624,HG02629,HG02634,HG02635,HG02642,HG02646,HG02651,HG02652,HG02654,HG02658,HG02660,HG02666,HG02667,HG02675,HG02676,HG02678,HG02679,HG02681,HG02682,HG02685,HG02687,HG02691,HG02694,HG02696,HG02697,HG02700,HG02702,HG02703,HG02715,HG02716,HG02721,HG02722,HG02725,HG02727,HG02733,HG02734,HG02756,HG02757,HG02759,HG02760,HG02763,HG02768,HG02769,HG02771,HG02772,HG02774,HG02775,HG02778,HG02783,HG02790,HG02793,HG02798,HG02808,HG02810,HG02811,HG02813,HG02814,HG02816,HG02817,HG02820,HG02837,HG02839,HG02840,HG02851,HG02852,HG02855,HG02860,HG02881,HG02882,HG02884,HG02888,HG02891,HG02895,HG02896,HG02922,HG02941,HG02943,HG02944,HG02946,HG02947,HG02952,HG02953,HG02970,HG02971,HG02973,HG02974,HG02976,HG02979,HG02981,HG02982,HG02983,HG03006,HG03007,HG03009,HG03016,HG03018,HG03019,HG03021,HG03022,HG03024,HG03027,HG03039,HG03040,HG03045,HG03046,HG03048,HG03052,HG03054,HG03055,HG03058,HG03060,HG03061,HG03063,HG03064,HG03066,HG03069,HG03072,HG03073,HG03079,HG03081,HG03082,HG03084,HG03088,HG03091,HG03095,HG03097,HG03099,HG03100,HG03105,HG03108,HG03109,HG03111,HG03112,HG03114,HG03115,HG03120,HG03121,HG03124,HG03126,HG03127,HG03129,HG03130,HG03132,HG03133,HG03135,HG03136,HG03159,HG03160,HG03162,HG03166,HG03168,HG03172,HG03175,HG03189,HG03193,HG03195,HG03198,HG03199,HG03202,HG03209,HG03212,HG03224,HG03225,HG03229,HG03237,HG03238,HG03240,HG03246,HG03247,HG03258,HG03265,HG03267,HG03271,HG03279,HG03280,HG03291,HG03294,HG03297,HG03298,HG03301,HG03303,HG03304,HG03311,HG03313,HG03351,HG03352,HG03354,HG03363,HG03366,HG03367,HG03369,HG03370,HG03372,HG03376,HG03378,HG03380,HG03382,HG03388,HG03391,HG03397,HG03401,HG03410,HG03419,HG03428,HG03432,HG03433,HG03436,HG03437,HG03442,HG03445,HG03446,HG03449,HG03451,HG03452,HG03455,HG03457,HG03458,HG03460,HG03461,HG03464,HG03469,HG03470,HG03476,HG03478,HG03484,HG03485,HG03490,HG03499,HG03511,HG03517,HG03520,HG03521,HG03538,HG03539,HG03547,HG03548,HG03556,HG03558,HG03559,HG03563,HG03565,HG03567,HG03571,HG03572,HG03575,HG03577,HG03578,HG03583,HG03585,HG03593,HG03594,HG03598,HG03607,HG03615,HG03625,HG03629,HG03631,HG03634,HG03642,HG03643,HG03645,HG03652,HG03653,HG03663,HG03672,HG03679,HG03681,HG03686,HG03687,HG03689,HG03693,HG03694,HG03696,HG03698,HG03703,HG03706,HG03713,HG03717,HG03727,HG03731,HG03733,HG03738,HG03744,HG03745,HG03746,HG03756,HG03757,HG03765,HG03767,HG03770,HG03771,HG03775,HG03778,HG03779,HG03781,HG03784,HG03786,HG03788,HG03792,HG03793,HG03796,HG03800,HG03802,HG03803,HG03805,HG03808,HG03809,HG03817,HG03821,HG03823,HG03824,HG03826,HG03829,HG03830,HG03832,HG03836,HG03838,HG03850,HG03854,HG03857,HG03858,HG03861,HG03866,HG03867,HG03869,HG03870,HG03873,HG03874,HG03884,HG03886,HG03888,HG03895,HG03897,HG03898,HG03899,HG03902,HG03905,HG03907,HG03911,HG03913,HG03914,HG03916,HG03917,HG03919,HG03920,HG03922,HG03926,HG03931,HG03934,HG03940,HG03943,HG03949,HG03950,HG03960,HG03963,HG03965,HG03968,HG03971,HG03973,HG03977,HG03985,HG03990,HG03991,HG03999,HG04003,HG04014,HG04017,HG04018,HG04023,HG04025,HG04026,HG04029,HG04033,HG04035,HG04039,HG04054,HG04056,HG04059,HG04060,HG04061,HG04062,HG04063,HG04070,HG04076,HG04080,HG04090,HG04093,HG04100,HG04118,HG04131,HG04140,HG04141,HG04144,HG04146,HG04153,HG04156,HG04158,HG04161,HG04162,HG04164,HG04171,HG04173,HG04176,HG04183,HG04186,HG04189,HG04194,HG04195,HG04198,HG04200,HG04209,HG04211,HG04216,HG04219,HG04222,HG04227,HG04229,HG04235,NA06984,NA06985,NA06986,NA06994,NA07000,NA07048,NA07051,NA07347,NA10847,NA10851,NA11831,NA11832,NA11840,NA11843,NA11892,NA11918,NA11919,NA11920,NA11930,NA11931,NA11933,NA11992,NA11994,NA12003,NA12004,NA12005,NA12006,NA12044,NA12045,NA12046,NA12144,NA12154,NA12234,NA12249,NA12273,NA12275,NA12282,NA12286,NA12287,NA12340,NA12341,NA12342,NA12347,NA12383,NA12399,NA12400,NA12413,NA12489,NA12546,NA12717,NA12748,NA12749,NA12751,NA12760,NA12762,NA12763,NA12776,NA12778,NA12812,NA12813,NA12814,NA12827,NA12828,NA12829,NA12830,NA12842,NA12843,NA12872,NA12873,NA12874,NA12889,NA12890,NA18486,NA18488,NA18489,NA18498,NA18499,NA18501,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18520,NA18522,NA18523,NA18525,NA18526,NA18528,NA18530,NA18531,NA18532,NA18533,NA18534,NA18535,NA18537,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18548,NA18549,NA18550,NA18555,NA18557,NA18558,NA18559,NA18561,NA18562,NA18563,NA18564,NA18565,NA18566,NA18571,NA18572,NA18573,NA18574,NA18577,NA18579,NA18582,NA18591,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18606,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18620,NA18622,NA18623,NA18624,NA18625,NA18626,NA18627,NA18628,NA18629,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18645,NA18646,NA18647,NA18648,NA18740,NA18745,NA18747,NA18748,NA18749,NA18853,NA18856,NA18864,NA18865,NA18867,NA18868,NA18870,NA18871,NA18873,NA18874,NA18876,NA18878,NA18879,NA18881,NA18907,NA18908,NA18909,NA18910,NA18912,NA18916,NA18923,NA18924,NA18933,NA18939,NA18941,NA18942,NA18943,NA18944,NA18945,NA18946,NA18947,NA18948,NA18949,NA18950,NA18951,NA18952,NA18953,NA18954,NA18956,NA18957,NA18959,NA18960,NA18961,NA18963,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18976,NA18978,NA18979,NA18980,NA18981,NA18982,NA18983,NA18984,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18991,NA18992,NA18993,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19001,NA19002,NA19004,NA19005,NA19007,NA19010,NA19011,NA19012,NA19017,NA19019,NA19020,NA19023,NA19024,NA19025,NA19026,NA19027,NA19028,NA19030,NA19031,NA19035,NA19036,NA19037,NA19038,NA19042,NA19043,NA19054,NA19056,NA19058,NA19059,NA19060,NA19062,NA19063,NA19065,NA19066,NA19067,NA19068,NA19070,NA19072,NA19074,NA19077,NA19079,NA19080,NA19081,NA19082,NA19083,NA19085,NA19086,NA19087,NA19088,NA19089,NA19090,NA19091,NA19092,NA19093,NA19095,NA19098,NA19099,NA19102,NA19114,NA19117,NA19118,NA19119,NA19121,NA19129,NA19131,NA19137,NA19138,NA19141,NA19143,NA19144,NA19146,NA19149,NA19152,NA19153,NA19159,NA19160,NA19172,NA19175,NA19184,NA19185,NA19189,NA19190,NA19197,NA19198,NA19200,NA19201,NA19204,NA19206,NA19209,NA19213,NA19214,NA19222,NA19223,NA19225,NA19235,NA19236,NA19239,NA19247,NA19248,NA19256,NA19257,NA19307,NA19308,NA19309,NA19310,NA19312,NA19315,NA19316,NA19317,NA19318,NA19319,NA19320,NA19323,NA19324,NA19327,NA19328,NA19331,NA19332,NA19334,NA19338,NA19346,NA19347,NA19350,NA19351,NA19355,NA19360,NA19372,NA19374,NA19376,NA19377,NA19378,NA19379,NA19380,NA19383,NA19384,NA19391,NA19393,NA19394,NA19399,NA19401,NA19428,NA19429,NA19430,NA19431,NA19434,NA19435,NA19436,NA19437,NA19438,NA19439,NA19440,NA19445,NA19448,NA19449,NA19451,NA19452,NA19454,NA19455,NA19456,NA19457,NA19463,NA19466,NA19468,NA19471,NA19472,NA19474,NA19475,NA19625,NA19648,NA19649,NA19651,NA19655,NA19657,NA19658,NA19661,NA19663,NA19664,NA19678,NA19679,NA19703,NA19704,NA19707,NA19711,NA19712,NA19713,NA19717,NA19719,NA19720,NA19723,NA19726,NA19729,NA19740,NA19746,NA19750,NA19752,NA19755,NA19756,NA19758,NA19759,NA19761,NA19762,NA19764,NA19770,NA19771,NA19773,NA19774,NA19777,NA19783,NA19785,NA19786,NA19789,NA19792,NA19794,NA19819,NA19834,NA19835,NA19901,NA19904,NA19913,NA19914,NA19916,NA19917,NA19920,NA19921,NA19923,NA19982,NA19984,NA20126,NA20127,NA20274,NA20282,NA20287,NA20289,NA20291,NA20296,NA20298,NA20299,NA20314,NA20317,NA20318,NA20320,NA20321,NA20332,NA20334,NA20339,NA20348,NA20355,NA20356,NA20357,NA20359,NA20362,NA20412,NA20502,NA20503,NA20505,NA20506,NA20507,NA20508,NA20509,NA20510,NA20511,NA20512,NA20513,NA20514,NA20517,NA20518,NA20521,NA20522,NA20525,NA20527,NA20528,NA20529,NA20531,NA20532,NA20534,NA20536,NA20540,NA20541,NA20542,NA20543,NA20581,NA20582,NA20585,NA20586,NA20588,NA20752,NA20753,NA20754,NA20755,NA20756,NA20757,NA20758,NA20759,NA20761,NA20763,NA20765,NA20766,NA20769,NA20771,NA20772,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20792,NA20795,NA20796,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20814,NA20815,NA20818,NA20819,NA20821,NA20822,NA20826,NA20827,NA20845,NA20846,NA20849,NA20851,NA20853,NA20854,NA20856,NA20858,NA20863,NA20864,NA20866,NA20867,NA20868,NA20869,NA20870,NA20872,NA20878,NA20884,NA20885,NA20887,NA20888,NA20890,NA20891,NA20892,NA20894,NA20906,NA20911,NA21086,NA21088,NA21090,NA21091,NA21092,NA21094,NA21097,NA21098,NA21099,NA21102,NA21103,NA21106,NA21108,NA21109,NA21113,NA21115,NA21118,NA21119,NA21122,NA21124,NA21126,NA21128,NA21130,NA21135,NA21141,NA21142,NA21143,NA21144 nsv5828404 1 17263914 17273598 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459246,nssv17458553 M 914 0 0 CROCC nsv6333534 1 17266596 17277195 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201642 M 19652 1 0 CROCC nsv6333544 1 17267596 17269395 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201643 M 19652 1 0 CROCC nsv6326105 1 17269367 17273738 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201644 M 19652 1 0 CROCC dgv57e59 1 17270765 17272363 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3347572,esv3452155,esv3375285 M 185 3 0 CROCC NA12878,NA12891,NA12892 nsv5568738 1 17272133 17272194 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061791 M 35 0 1 CROCC HG03732 nsv6332415 1 17274396 17275595 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201646 M 19652 1 0 CROCC esv3663164 1 17276414 17276414 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486051 M 20 1 0 CROCC nsv5566545 1 17276579 17276873 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061794 M 35 0 1 CROCC HG00512 nsv3177760 1 17276580 17276875 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384118 M 9 0 1 CROCC NA19240 nsv5981748 1 17276717 17277005 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533251 M 405 0 1 CROCC nsv3936695 1 17276718 17277012 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181694 M 1 0 1 CROCC HG002 nsv5572686 1 17278379 17278636 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061796 M 35 0 1 CROCC HG00512 nsv3954012 1 17278379 17278637 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181701 M 1 0 1 CROCC HG002 nsv5981689 1 17278379 17278637 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527221 M 405 0 1 CROCC nsv957534 1 17278449 17280515 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003468 M 1 0 1 CROCC BILGI_BIOE nsv1076186 1 17278449 17280523 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763961 M 1 0 1 CROCC KWP1 esv3343101 1 17279965 17280763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692076 M 185 1 0 CROCC NA12891 nsv4032672 1 17282866 17283223 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850484 M 10847 0 1 CROCC nsv6323948 1 17285807 17291125 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053315 M 19652 0 1 CROCC nsv954854 1 17287601 17340400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003141 M 1 0 1 ATP13A2,CROCC,MFAP2 BILGI_BIOE esv3663172 1 17287952 17287952 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486059 M 20 1 0 CROCC esv3663179 1 17289645 17289645 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486065 M 20 1 0 CROCC nsv1077159 1 17300399 17301200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767137 M 1 0 1 MFAP2 KWP1 esv3670789 1 17300519 17300519 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492914 M 20 1 0 "" nsv6045765 1 17303031 17303031 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531929 M 405 1 0 MFAP2 nsv1143440 1 17306400 17307400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980640 M 2 0 1 MFAP2 KWS1 nsv6330314 1 17311811 17312024 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053335 M 19652 0 1 "" nsv5433110 1 17311812 17312024 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899781 M 3202 0 1 "" nsv6334369 1 17312096 17313695 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053336 M 19652 0 1 ATP13A2 nsv4459568 1 17314388 17314389 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027773 M 10847 1 0 ATP13A2 nsv6325982 1 17315573 17387742 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201654 M 19652 1 0 ATP13A2,SDHB nsv5981692 1 17325658 17326179 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535273 M 405 0 1 ATP13A2 nsv5422918 1 17332596 17335408 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899782 M 3202 0 1 ATP13A2 esv3663190 1 17332708 17332708 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486075 M 20 1 0 ATP13A2 nsv4050277 1 17332814 17333142 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850494 M 10847 0 1 ATP13A2 esv3360661 1 17335883 17335905 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863677 M 185 1 0 ATP13A2 NA12005 esv3663197 1 17343826 17343826 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486081 M 20 1 0 "" nsv4045173 1 17349715 17349783 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850504 M 10847 0 1 SDHB nsv5429141 1 17349715 17349783 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899783 M 3202 0 1 SDHB nsv5432386 1 17354923 17356063 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899784 M 3202 0 1 SDHB nsv6316862 1 17358722 17361504 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053378 M 19652 0 1 SDHB nsv4050459 1 17359036 17359413 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850522 M 10847 0 1 SDHB nsv5883506 1 17361001 17363336 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355964 M 914 0 1 SDHB esv2662800 1 17361001 17363337 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5534174,essv6032694,essv6493736,essv6458674,essv5515375 M 1151 0 5 SDHB HG00151,HG01066,HG01174,HG01488,NA19723 nsv4038764 1 17361004 17363337 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850530 M 10847 0 1 SDHB nsv5422746 1 17361004 17363337 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899785 M 3202 0 1 SDHB nsv6324534 1 17361004 17363337 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053381 M 19652 0 1 SDHB esv3585358 1 17361016 17363374 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9874570,essv9874566,essv9874571,essv9874567,essv9874565,essv9874569,essv9874568 M 2504 0 7 SDHB HG00151,HG01066,HG01174,HG01488,HG01565,HG01783,NA19723 nsv5828535 1 17361025 17362560 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457404 M 914 0 0 SDHB nsv5870258 1 17363168 17363231 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358950 M 914 0 1 SDHB nsv6047869 1 17363214 17363214 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529962 M 405 1 0 SDHB nsv5886825 1 17365690 17365741 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363747 M 914 0 1 SDHB nsv4045242 1 17365692 17365742 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850538 M 10847 0 1 SDHB nsv545690 1 17366871 17485653 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710923 M 17421 1 0 PADI2,SDHB nsv6552449 1 17368021 17369590 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248077 M 19652 0 0 SDHB nsv6540602 1 17373244 17373692 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248078 M 19652 0 0 SDHB nsv6325402 1 17381272 17381569 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201664 M 19652 1 0 "" nsv6041770 1 17381468 17381468 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531870 M 405 1 0 "" nsv4459375 1 17382813 17382814 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027780 M 10847 1 0 "" nsv4042164 1 17388524 17389108 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850548 M 10847 0 1 "" nsv4042522 1 17391413 17394613 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850556 M 10847 0 1 PADI2 nsv6332073 1 17392946 17397537 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053412 M 19652 0 1 PADI2 nsv6326534 1 17399618 17414808 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201668 M 19652 1 0 PADI2 nsv1145323 1 17402781 17427228 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982419 M 2 0 1 PADI2 KWS1 esv3670795 1 17402799 17402799 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492920 M 20 1 0 PADI2 nsv5424239 1 17402996 17403335 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899786 M 3202 0 1 PADI2 nsv5427869 1 17403307 17437875 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899787 M 3202 1 0 PADI2 esv3585359 1 17403943 17437540 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9874572 M 2504 1 0 PADI2 HG01935 esv3663212 1 17404981 17404981 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486095 M 20 1 0 PADI2 esv2422314 1 17407393 17543122 CNV duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP array essv5161240 M 181 1 0 PADI1,PADI2 ND01703 nsv460662 1 17412501 17485551 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537201 M 1557 0 1 PADI2 HGDP00896 nsv545691 1 17412501 17485551 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173787 M 17421 0 1 PADI2 HGDP00896 nsv4046179 1 17413151 17413232 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850561 M 10847 0 1 PADI2 nsv5415628 1 17413151 17413232 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899788 M 3202 0 1 PADI2 nsv5870488 1 17415367 17415433 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363486 M 914 0 1 PADI2 nsv4046823 1 17415368 17415434 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850667 M 10847 0 1 PADI2 nsv5423710 1 17415368 17415434 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899789 M 3202 0 1 PADI2 nsv6550465 1 17419290 17419840 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248083 M 19652 0 0 PADI2 nsv6328875 1 17425922 17488673 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201670 M 19652 1 0 PADI2 nsv6329757 1 17426456 17436830 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053431 M 19652 0 1 PADI2 nsv1009931 1 17426762 17487951 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468895 M 11257 1 0 PADI2 esv3663216 1 17426867 17426867 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486099 M 20 1 0 PADI2 nsv1133818 1 17430625 17430678 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970142 M 2 0 1 PADI2 KWS2 nsv1137735 1 17430708 17430771 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990242 M 2 0 1 PADI2 KWS2 nsv5981753 1 17431013 17431971 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519569 M 405 0 1 PADI2 nsv6317458 1 17433096 17434695 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053999 M 19652 0 1 PADI2 nsv1076191 1 17433415 17433479 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766859 M 1 0 1 PADI2 KWP1 nsv5545643 1 17441123 17441123 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899790 M 3202 1 0 PADI2 nsv5616224 1 17441123 17441123 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061330 M 35 1 0 PADI2 NA19239 esv3305460 1 17441123 17441124 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7756324,essv7754097,essv7755485,essv7744319,essv7756230,essv7749234,essv7746912,essv7741691,essv7750186,essv7744629,essv7749714,essv7752737,essv7760271,essv7758201,essv7743175,essv7762283,essv7740897,essv7761430 M 185 18 0 PADI2 NA18486,NA18489,NA18498,NA18499,NA18502,NA18505,NA18522,NA18853,NA18856,NA18870,NA18912,NA18916,NA19093,NA19108,NA19116,NA19137,NA19138,NA19239 nsv4532860 1 17441123 17441124 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027791 M 10847 1 0 PADI2 esv3310333 1 17441132 17441133 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7836931,essv7837611,essv7838900 M 185 3 0 PADI2 NA19238,NA19239,NA19240 nsv3561428 1 17441134 17441134 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14348734 M 9 1 0 PADI2 NA19239 nsv5693686 1 17441134 17441134 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205663,nssv17177636 M 3202 2 0 PADI2 nsv5881873 1 17446676 17446961 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362256 M 914 0 1 "" nsv4037101 1 17446676 17446964 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850677 M 10847 0 1 "" esv2422211 1 17452922 17484499 CNV duplication Simon-Sanchez_et_al_2007 17116639 qPCR,SNP array essv5161296 M 181 1 0 "" ND03833 nsv5693114 1 17454017 17454017 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17177666 M 3202 1 0 "" nsv6550591 1 17457402 17457966 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248085 M 19652 0 0 "" nsv6317194 1 17459053 17466094 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053821 M 19652 0 1 "" nsv4459430 1 17459147 17459148 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027802 M 10847 1 0 "" nsv5875994 1 17460204 17460253 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358542 M 914 0 1 "" nsv5427929 1 17460204 17460254 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899792 M 3202 0 1 "" nsv6320131 1 17460289 17461377 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053823 M 19652 0 1 "" nsv1110994 1 17461278 17461363 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961423 M 2 1 0 "" KWS1 nsv6318620 1 17466500 17468920 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053824 M 19652 0 1 "" nsv1004390 1 17468645 17554853 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700280 M 11257 1 0 PADI1 nsv6335147 1 17472067 17472711 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053826 M 19652 0 1 "" nsv4035280 1 17475414 17484253 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850686 M 10847 0 1 "" nsv4043992 1 17480237 17480299 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850696 M 10847 0 1 "" nsv5828542 1 17484057 17493533 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463717 M 914 0 0 "" nsv5887244 1 17484098 17514581 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352024 M 914 0 1 "" nsv4034805 1 17484099 17514582 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850703 M 10847 0 1 "" nsv5419077 1 17484099 17514582 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899794 M 3202 0 1 "" nsv6320029 1 17484099 17514582 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053829 M 19652 0 1 "" esv3585361 1 17484104 17514588 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9874807,essv9874803,essv9874785,essv9874806,essv9874792,essv9874805,essv9874787,essv9874790,essv9874789,essv9874804,essv9874802,essv9874798,essv9874797,essv9874786,essv9874791,essv9874796,essv9874801,essv9874788,essv9874793,essv9874799,essv9874794,essv9874795,essv9874800 M 2504 0 23 "" HG02784,HG03603,HG03643,HG03731,HG03771,HG03832,HG03875,HG03947,HG03953,HG03955,HG03990,HG03991,HG04020,HG04026,HG04056,HG04099,HG04118,HG04146,HG04225,HG04239,NA20884,NA20894,NA21126 esv3892636 1 17485551 17510703 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25781376,essv25786663,essv25782507,essv25782334,essv25782733,essv25798477 M 3017 0 6 "" esv2762267 1 17485581 17513852 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7007744 M 1109 0 1 "" SW_1378 esv3577753 1 17485914 17514831 CNV loss Uddin_et_al_2014 25503493 SNP array essv9801311 M 873 0 1 "" 401275SJ nsv5828543 1 17489884 17494283 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454846 M 914 0 0 "" nsv5875174 1 17490893 17494261 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354825 M 914 0 1 "" nsv3214005 1 17491355 17494605 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267920,nssv14267921 M 9 2 0 "" HG00731,NA19239 esv2627134 1 17492270 17493050 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5378317 M 1 1 0 "" NA18507 nsv4444721 1 17492452 17492452 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761302 M 1 1 0 "" nsv1077620 1 17492498 17492571 CNV insertion Thareja_et_al_2015 25765185 Sequencing nssv3769520 M 1 1 0 "" KWP1 nsv5422284 1 17492508 17492714 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899814 M 3202 1 0 "" nsv6316740 1 17492508 17492714 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201680 M 19652 1 0 "" nsv3525282 1 17492509 17492714 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14350525 M 9 1 0 "" NA19239 nsv3056069 1 17492642 17492642 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14026533 M 2 1 0 "" NA12878 nsv512720 1 17492683 17493571 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625345 M 1 1 0 "" 1 nsv4767232 1 17492704 17492704 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16261444 M 25 1 0 "" esv3670800 1 17492713 17492713 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492924 M 20 1 0 "" nsv3533019 1 17492713 17492713 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388164,nssv14438768,nssv14412748 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3947654 1 17492713 17492713 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191302 M 1 1 0 "" HG002 nsv5542752 1 17492713 17492713 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899825 M 3202 1 0 "" nsv5613301 1 17492713 17492713 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061341 M 35 1 0 "" HG00731 nsv6048812 1 17492713 17492713 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527396 M 405 1 0 "" esv1174577 1 17492714 17492714 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4070341 M 2 1 0 "" HuRef nsv2800175 1 17492714 17492714 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13711243 M 2 1 0 "" nsv3056766 1 17492714 17492714 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017508 M 2 1 0 "" CHM1 nsv3320727 1 17492714 17492714 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487961,nssv14483342,nssv14488206,nssv14478680,nssv14486827,nssv14481350,nssv14484027,nssv14477275,nssv14481585,nssv14475720,nssv14472287,nssv14483345,nssv14486499,nssv14485032 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4516562 1 17498938 17499059 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850704 M 10847 0 1 "" nsv4050610 1 17501381 17502437 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850705 M 10847 0 1 "" nsv4051763 1 17502249 17502410 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850706 M 10847 0 1 "" nsv4045645 1 17503840 17620036 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963816 M 10847 1 0 PADI1,PADI3 nsv6317600 1 17504496 17506395 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053843 M 19652 0 1 "" nsv5414629 1 17517592 17517880 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899847 M 3202 0 1 "" esv3670803 1 17517706 17517706 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492927 M 20 1 0 "" nsv3933581 1 17518401 17518401 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191304 M 1 1 0 "" HG002 nsv5615086 1 17518401 17518401 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061909 M 35 1 0 "" NA24385 nsv4035685 1 17518434 17518508 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963817 M 10847 1 0 "" nsv4459432 1 17523992 17523993 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027809 M 10847 1 0 "" nsv4040319 1 17530220 17530808 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850707 M 10847 0 1 "" nsv5414955 1 17530548 17530702 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899869 M 3202 0 1 "" nsv834291 1 17530817 17676712 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443763,nssv1443774 M 95 2 0 PADI1,PADI3,PADI4 nsv4046052 1 17531856 17535759 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850708 M 10847 0 1 PADI1 nsv4459381 1 17533559 17533560 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027817 M 10847 1 0 PADI1 nsv5682815 1 17533574 17533574 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17177191 M 3202 1 0 PADI1 nsv5413277 1 17533574 17533625 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899882 M 3202 1 0 PADI1 nsv4047086 1 17534338 17534406 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850709 M 10847 0 1 PADI1 nsv5426508 1 17534914 17535194 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899883 M 3202 1 0 PADI1 nsv4759720 1 17534939 17534939 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16271301 M 25 1 0 PADI1 esv3550343 1 17534965 17535076 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9749090 M 767 0 1 PADI1 nsv3320733 1 17534989 17535099 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476764 M 14 0 1 PADI1 NA19434 nsv5981696 1 17534997 17535066 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532717 M 405 0 1 PADI1 nsv1114935 1 17535022 17535084 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975231 M 2 0 1 PADI1 KWS1 esv3663231 1 17535067 17535067 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486111 M 20 1 0 PADI1 nsv3950102 1 17535067 17535067 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191305 M 1 1 0 PADI1 HG002 nsv5615130 1 17535067 17535067 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061914 M 35 1 0 PADI1 HG00731 nsv6049851 1 17535067 17535067 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533855 M 405 1 0 PADI1 nsv2800917 1 17535068 17535068 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13711638 M 2 1 0 PADI1 nsv3320734 1 17535068 17535068 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489491,nssv14485340,nssv14475866,nssv14481902,nssv14474851,nssv14488285 M 14 6 0 PADI1 CHM1,CHM13,HG00268,HG01352,HG02106,HG02818 dgv124n152 1 17535071 17535146 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3177413,nsv3177414 M 9 0 0 PADI1 HG00514,HG00733,NA19240 esv1489199 1 17535092 17535092 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3883314 M 2 1 0 PADI1 HuRef nsv3056071 1 17535095 17535095 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019717 M 2 1 0 PADI1 NA12878 nsv3321174 1 17535113 17535113 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474092,nssv14489347 M 14 2 0 PADI1 HG00268,NA19434 nsv4035178 1 17540959 17541046 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850710 M 10847 0 1 PADI1 nsv954861 1 17541801 17563400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003142 M 1 0 1 PADI1 BILGI_BIOE nsv5416716 1 17542878 17542966 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899885 M 3202 1 0 PADI1 esv2762134 1 17550121 17552875 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005180 M 1109 0 1 PADI1 RW_0111 nsv470700 1 17551943 17594592 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547713 M 443 0 1 PADI1,PADI3 HGDP00298 nsv5621653 1 17553728 17553728 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061920 M 35 1 0 PADI1 HG01596 nsv545692 1 17554853 17657534 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710924 M 17421 0 1 PADI1,PADI3,PADI4 nsv4043398 1 17558045 17558235 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850711 M 10847 0 1 PADI1 nsv4459433 1 17560706 17560707 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027826 M 10847 1 0 PADI1 nsv4534299 1 17561778 17561779 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027836 M 10847 1 0 PADI1 nsv5553602 1 17561805 17561838 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899887 M 3202 1 0 PADI1 nsv511680 1 17566573 17569081 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626318 M 1 0 1 PADI1 1 nsv3938945 1 17567946 17568090 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181149 M 1 0 1 PADI1 HG002 nsv5581266 1 17567946 17568233 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061924 M 35 0 1 PADI1 HG00732 esv3681285 1 17567946 17568307 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467207 M 20 0 1 PADI1 nsv2800179 1 17567947 17568054 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13684287 M 2 0 1 PADI1 nsv3321366 1 17567947 17568054 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489562,nssv14484672,nssv14483286,nssv14488009,nssv14480095 M 14 0 5 PADI1 CHM13,HG00268,HG00514,HG01352,NA19240 dgv125n152 1 17567947 17568091 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3281612,nsv3280474 M 9 0 2 PADI1 HG00514,NA19240 nsv3281777 1 17567947 17568235 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14442453 M 9 0 1 PADI1 HG00733 nsv3321367 1 17567948 17568163 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477436 M 14 0 1 PADI1 NA19434 esv1009642 1 17567948 17568235 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3578196 M 3 0 1 PADI1 HuRef nsv5981829 1 17567971 17568117 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529138 M 405 0 1 PADI1 nsv4737745 1 17567976 17568122 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16266829 M 25 0 1 PADI1 nsv4432991 1 17567980 17568487 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15745591 M 15 0 1 PADI1 SMI041 esv1398963 1 17567997 17568285 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4132855 M 2 0 1 PADI1 HuRef nsv6138076 1 17568082 17568442 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899888 M 3202 0 1 PADI1 nsv508958 1 17571342 17623132 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621083,nssv619777,nssv623775 M 4 3 0 PADI1,PADI3 NA10860,NA15510,NA18994 nsv4042555 1 17572774 17575861 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850712 M 10847 0 1 PADI3 esv3665729 1 17574609 17574687 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488360 M 20 0 0 "" nsv5966365 1 17575131 17575131 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363168 M 914 1 0 "" nsv4042165 1 17575424 17639513 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963818 M 10847 1 0 PADI3,PADI4 nsv6326385 1 17575477 17639511 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201688 M 19652 1 0 PADI3,PADI4 dgv128n100 1 17576328 17636000 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011098,nsv1005242 M 11257 3 0 PADI3,PADI4 nsv481528 1 17577254 17577254 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013550 M 9 0 0 PADI3 nsv4051486 1 17586193 17593995 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850713 M 10847 0 1 PADI3 nsv6321333 1 17586193 17593995 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053924 M 19652 0 1 PADI3 nsv521814 1 17586653 17592324 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694586 M 2026 0 1 PADI3 dgv129n100 1 17588162 17622897 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000599,nsv997473,nsv1003069,nsv1000395,nsv1007323,nsv1000437,nsv1015132,nsv1007766,nsv1014175,nsv1004800 M 11257 26 0 PADI3 dgv19e212 1 17591077 17619997 CNV gain Uddin_et_al_2014 25503493 SNP array esv3576027,esv3576138,esv3575805,esv3576360,esv3576249,esv3575916 M 873 8 0 PADI3 400525MR,401133JG,401287CF,401372RR,401510DG,401634CH,401681MS,401825TH nsv4459435 1 17591837 17591838 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027846 M 10847 1 0 PADI3 nsv3321370 1 17591838 17591838 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14489090 M 14 1 0 PADI3 NA19434 nsv5687164 1 17591850 17591850 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205665,nssv17178639 M 3202 2 0 PADI3 nsv5408073 1 17591850 17591901 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899890 M 3202 1 0 PADI3 nsv516116 1 17592324 17613809 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv691565,nssv669330,nssv666311,nssv654821,nssv668375 M 2026 5 0 PADI3 nsv3169887 1 17593406 17622654 CNV duplication Fu_et_al_2018 29476164 SNP array nssv14250548 M 93 1 0 PADI3 MLY_11 nsv6320298 1 17593796 17621495 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201020 M 19652 1 0 PADI3 nsv5868880 1 17594146 17621183 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17364008 M 914 1 0 PADI3 nsv5429791 1 17594146 17621197 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899891 M 3202 1 0 PADI3 nsv4048144 1 17594146 17621223 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963819 M 10847 1 0 PADI3 esv3585363 1 17594229 17623219 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9874820,essv9874822,essv9874825,essv9874821,essv9874824,essv9874823,essv9874826,essv9874819 M 2504 8 0 PADI3 HG00136,HG02690,HG03649,HG03775,HG03947,NA20521,NA20853,NA20894 nsv1011954 1 17594884 17617097 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482059,nssv3477036,nssv3470184,nssv3700287 M 11257 4 0 PADI3 esv2762268 1 17594896 17617109 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7007855 M 1109 1 0 PADI3 SW_1213 nsv5828630 1 17595243 17601742 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462327 M 914 0 0 PADI3 nsv545693 1 17595811 17613809 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710925 M 17421 1 0 PADI3 nsv1011242 1 17595811 17629045 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472097 M 11257 1 0 PADI3 nsv4535427 1 17599297 17599298 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027856 M 10847 1 0 PADI3 nsv4033901 1 17601083 17601508 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850714 M 10847 0 1 PADI3 nsv6320333 1 17601083 17601508 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053934 M 19652 0 1 PADI3 nsv5981698 1 17602338 17604673 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529475 M 405 0 1 PADI3 nsv1003937 1 17603605 17694701 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467117 M 11257 0 1 PADI3,PADI4 nsv4076 1 17609733 17621412 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv955 M 9 1 0 PADI3 NA19240 nsv3212125 1 17613057 17614818 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267937 M 9 1 0 "" NA19239 nsv3214477 1 17614818 17621000 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261363,nssv14261360,nssv14261365,nssv14261362,nssv14261366,nssv14261364,nssv14261358,nssv14261361,nssv14261359 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5981834 1 17615546 17615831 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17525685 M 405 1 0 "" nsv6054685 1 17615569 17615569 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536583 M 405 1 0 "" nsv6054987 1 17615607 17615607 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519575 M 405 1 0 "" esv1667289 1 17615796 17615796 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3808815 M 2 1 0 "" HuRef nsv3938604 1 17615798 17615798 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190729 M 1 1 0 "" HG002 nsv5545672 1 17615798 17615798 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899892 M 3202 1 0 "" nsv5616245 1 17615798 17615798 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061590 M 35 1 0 "" HG00731 nsv6052152 1 17615798 17615798 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531874 M 405 1 0 "" esv3674527 1 17615798 17615799 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496279 M 20 0 0 "" dgv126n152 1 17615798 17618483 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3181744,nsv3176442,nsv3170509 M 9 0 0 "" HG00514,HG00733,NA19240 nsv2801066 1 17615799 17615799 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691286 M 2 1 0 "" nsv3320740 1 17615799 17615799 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475555,nssv14486064,nssv14483123,nssv14485322,nssv14476846,nssv14484310,nssv14485950,nssv14484135,nssv14485678,nssv14484319,nssv14491038,nssv14479891,nssv14485639 M 14 13 0 "" CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv997286 1 17615802 17619428 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565762 M 3 1 0 "" HuRef nsv3538619 1 17615825 17615825 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381869,nssv14412751 M 9 2 0 "" HG00514,NA19240 nsv3561304 1 17615825 17615825 CNV sva insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14351999,nssv14352000,nssv14352004,nssv14352001,nssv14352005,nssv14352003,nssv14352002 M 9 7 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,NA19238,NA19240 nsv5828632 1 17616071 17620953 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462155 M 914 0 0 "" nsv3548506 1 17617716 17617716 CNV line1 insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383977 M 9 1 0 "" NA19240 nsv5620327 1 17617716 17617716 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061591 M 35 1 0 "" NA19238 nsv4533438 1 17617716 17617717 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027864 M 10847 1 0 "" nsv3531285 1 17617731 17617731 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377249 M 9 1 0 "" NA19240 nsv3561592 1 17617731 17617731 CNV sva insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14350884,nssv14350885 M 9 2 0 "" NA19238,NA19240 nsv5680960 1 17617731 17617731 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17179180 M 3202 1 0 "" nsv5719014 1 17617731 17617731 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17245384,nssv17243380 M 3202 2 0 "" nsv4766850 1 17619368 17619368 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16289919 M 25 1 0 "" nsv3053492 1 17619380 17619380 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017350 M 2 1 0 "" NA12878 nsv3539959 1 17619381 17619381 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378209 M 9 1 0 "" NA19240 nsv3946148 1 17619381 17619381 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192582 M 1 1 0 "" HG002 nsv2801067 1 17619382 17619382 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688176 M 2 1 0 "" nsv3541604 1 17619390 17619390 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438772 M 9 1 0 "" HG00733 nsv5605180 1 17619390 17619390 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061592 M 35 1 0 "" HG00731 nsv6041523 1 17619390 17619390 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533141 M 405 1 0 "" nsv2800827 1 17619391 17619391 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690744 M 2 1 0 "" nsv3320741 1 17619391 17619391 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480520,nssv14486109,nssv14478069,nssv14472469,nssv14478207,nssv14490347,nssv14491982,nssv14489814,nssv14476630,nssv14483229,nssv14482968,nssv14486478,nssv14481850 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240 nsv5534492 1 17619393 17619417 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899894 M 3202 1 0 "" nsv4047135 1 17621020 17633470 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850715 M 10847 0 1 "" nsv6322657 1 17621020 17633470 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053953 M 19652 0 1 "" nsv4536439 1 17625625 17625626 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027602 M 10847 1 0 "" nsv4046288 1 17626260 17627701 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850716 M 10847 0 1 "" nsv6334171 1 17626260 17627701 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053958 M 19652 0 1 "" nsv4051822 1 17627235 17627314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850717 M 10847 0 1 "" esv3663249 1 17628076 17628076 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486128 M 20 1 0 "" nsv6325032 1 17637275 17637412 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053969 M 19652 0 1 PADI4 esv3585365 1 17641948 17642976 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9874863,essv9874854,essv9874861,essv9874855,essv9874864,essv9874856,essv9874859,essv9874851,essv9874860,essv9874857,essv9874862,essv9874852,essv9874849,essv9874869,essv9874850,essv9874848,essv9874866,essv9874853,essv9874847,essv9874867,essv9874846,essv9874868,essv9874845,essv9874865,essv9874858 M 2504 0 25 PADI4 HG01882,HG01896,HG02090,HG02282,HG02323,HG02583,HG02882,HG03072,HG03378,HG03410,HG03439,HG03446,HG03470,HG03578,NA18486,NA18867,NA19095,NA19102,NA19130,NA19318,NA19443,NA19707,NA19713,NA20289,NA20351 nsv5828547 1 17641990 17643023 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453729 M 914 0 0 PADI4 nsv5870151 1 17642027 17642919 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365115 M 914 0 1 PADI4 esv2674909 1 17642027 17642920 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5982492,essv6453312,essv6207285,essv6543344,essv5539586,essv6425476,essv5677106 M 1151 0 7 PADI4 NA18486,NA18867,NA19130,NA19443,NA19469,NA19470,NA19713 nsv5415406 1 17642027 17642920 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899896 M 3202 0 1 PADI4 nsv6321177 1 17642027 17642920 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053974 M 19652 0 1 PADI4 nsv4050147 1 17642029 17642886 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850719 M 10847 0 1 PADI4 nsv1137736 1 17644326 17644393 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990243 M 2 0 1 PADI4 KWS2 nsv4041821 1 17644422 17655015 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850720 M 10847 0 1 PADI4 nsv4040824 1 17646143 17651277 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850721 M 10847 0 1 PADI4 nsv6335483 1 17646143 17651277 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053979 M 19652 0 1 PADI4 nsv1126979 1 17649767 17649829 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985268 M 2 0 1 PADI4 KWS1 nsv4045523 1 17650078 17659891 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850722 M 10847 0 1 PADI4 nsv6327475 1 17650804 17651210 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053108 M 19652 0 1 PADI4 nsv4039298 1 17650809 17651210 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850723 M 10847 0 1 PADI4 nsv6323493 1 17651526 17657226 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201029 M 19652 1 0 PADI4 nsv481233 1 17652684 17652684 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019868 M 9 0 0 PADI4 nsv6548917 1 17654628 17655087 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248107 M 19652 0 0 PADI4 nsv4047218 1 17655520 17655793 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850724 M 10847 0 1 PADI4 nsv4534813 1 17655550 17655551 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027613 M 10847 1 0 PADI4 nsv5431554 1 17659360 17680262 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899898 M 3202 1 0 PADI4 nsv4049378 1 17662719 17678598 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963820 M 10847 1 0 PADI4 nsv6324500 1 17662719 17678606 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201031 M 19652 1 0 PADI4 nsv5432502 1 17662822 17703757 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899908 M 3202 1 0 PADI4,PADI6 esv3585366 1 17663971 17701638 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9874870 M 2504 1 0 PADI4,PADI6 NA12829 nsv1075256 1 17664181 17664239 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765016 M 1 0 1 PADI4 KWP1 nsv4037761 1 17667544 17667965 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850725 M 10847 0 1 PADI4 nsv3194367 1 17674244 17685852 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14256542,nssv14256540,nssv14256541 M 9 0 3 PADI4 HG00731,HG00732,HG00733 nsv545694 1 17674821 17676843 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710926 M 17421 0 1 PADI4 nsv511142 1 17674821 17681277 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625376 M 1 0 1 PADI4 1 esv33950 1 17675515 17677114 CNV gain+loss de_Smith_et_al_2007 17666407 Oligo aCGH essv100601,essv96650,essv95937,essv96134,essv94943,essv96455,essv100231,essv95433,essv92812,essv101586,essv101249,essv95861,essv96384,essv93123,essv95154 M 51 12 3 PADI4 21603,21618,21721,21847,21863,21911,21944,22007,22011,22127,22231,22261,22286,22298,22371 esv21592 1 17675886 17678930 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16374,esv15492,esv15841 M 40 0 14 PADI4 NA06985,NA07045,NA11894,NA11931,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12489,NA12749,NA12828,NA15510 esv4441 1 17675893 17677762 CNV loss Wang_et_al_2008 18987735 Sequencing essv26882 M 1 0 1 PADI4 YH nsv511681 1 17676000 17677698 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626319 M 1 0 1 PADI4 1 nsv1069104 1 17676099 17677755 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762664 M 1 0 1 PADI4 KWP1 dgv51n106 1 17676100 17677700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1128447,nsv1136065,nsv1144784 M 2 0 2 PADI4 KWS1,KWS2 esv3550565 1 17676111 17677716 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9749312 M 767 0 1 PADI4 nsv5828414 1 17676159 17677658 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457875 M 914 0 0 PADI4 nsv3189507 1 17676161 17677654 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14442724 M 9 0 0 PADI4 HG00733 esv3585367 1 17676165 17677662 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing 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essv9874938,essv9875076,essv9874983,essv9875167,essv9874939,essv9875041,essv9874881,essv9875183,essv9874940,essv9875120,essv9874941,essv9875140,essv9874942,essv9875165,essv9874967,essv9875026,essv9874992,essv9875115,essv9874943,essv9875045,essv9874984,essv9875080,essv9874998,essv9875109,essv9874980,essv9875227,essv9874882,essv9875143,essv9874944,essv9875163,essv9874972,essv9875006,essv9874883,essv9875010,essv9874884,essv9875148,essv9874945,essv9875228,essv9874885,essv9875052,essv9874946,essv9875230,essv9874996,essv9875093,essv9874947,essv9874948,essv9874886,essv9874949,essv9874950,essv9874951,essv9874952,essv9874953,essv9874954,essv9874990,essv9874887,essv9874989,essv9874955,essv9874976,essv9874969 M 2504 0 1309 PADI4 HG00096,HG00097,HG00099,HG00100,HG00101,HG00106,HG00108,HG00111,HG00113,HG00114,HG00118,HG00121,HG00122,HG00123,HG00125,HG00126,HG00132,HG00136,HG00137,HG00138,HG00139,HG00142,HG00143,HG00145,HG00149,HG00150,HG00151,HG00154,HG00155,HG00158,HG00159,HG00160,HG00171,HG00173,HG00176,HG00177,HG00178,HG00181,HG00182,HG00183,HG00185,HG00186,HG00187,HG00188,HG00190,HG00234,HG00236,HG00237,HG00238,HG00239,HG00245,HG00251,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00260,HG00261,HG00262,HG00263,HG00266,HG00268,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00285,HG00290,HG00306,HG00308,HG00309,HG00315,HG00318,HG00319,HG00321,HG00323,HG00324,HG00326,HG00329,HG00332,HG00334,HG00335,HG00336,HG00337,HG00339,HG00342,HG00344,HG00345,HG00349,HG00353,HG00355,HG00357,HG00358,HG00362,HG00364,HG00365,HG00366,HG00368,HG00369,HG00372,HG00375,HG00376,HG00378,HG00379,HG00381,HG00382,HG00384,HG00403,HG00404,HG00406,HG00407,HG00409,HG00421,HG00422,HG00428,HG00436,HG00442,HG00445,HG00446,HG00448,HG00449,HG00451,HG00457,HG00458,HG00464,HG00475,HG00478,HG00479,HG00500,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00543,HG00551,HG00553,HG00554,HG00556,HG00557,HG00559,HG00565,HG00566,HG00580,HG00581,HG00584,HG00589,HG00590,HG00592,HG00595,HG00596,HG00598,HG00599,HG00607,HG00608,HG00610,HG00611,HG00614,HG00619,HG00620,HG00622,HG00623,HG00626,HG00628,HG00629,HG00631,HG00632,HG00634,HG00637,HG00638,HG00641,HG00650,HG00653,HG00654,HG00657,HG00663,HG00671,HG00672,HG00674,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00704,HG00705,HG00707,HG00708,HG00717,HG00728,HG00729,HG00731,HG00732,HG00734,HG00737,HG00742,HG00766,HG00851,HG00864,HG00879,HG00881,HG00956,HG00978,HG00982,HG01028,HG01048,HG01052,HG01054,HG01055,HG01060,HG01061,HG01066,HG01067,HG01069,HG01070,HG01072,HG01075,HG01080,HG01082,HG01083,HG01088,HG01089,HG01095,HG01097,HG01101,HG01104,HG01105,HG01107,HG01112,HG01121,HG01122,HG01131,HG01133,HG01134,HG01136,HG01137,HG01139,HG01140,HG01142,HG01148,HG01149,HG01161,HG01162,HG01164,HG01168,HG01170,HG01173,HG01174,HG01182,HG01188,HG01190,HG01191,HG01198,HG01200,HG01204,HG01205,HG01247,HG01250,HG01251,HG01257,HG01259,HG01272,HG01281,HG01284,HG01302,HG01303,HG01305,HG01308,HG01311,HG01323,HG01325,HG01326,HG01341,HG01344,HG01350,HG01351,HG01354,HG01356,HG01357,HG01359,HG01360,HG01362,HG01363,HG01365,HG01369,HG01372,HG01374,HG01375,HG01378,HG01384,HG01395,HG01396,HG01402,HG01412,HG01413,HG01414,HG01431,HG01435,HG01437,HG01440,HG01441,HG01443,HG01444,HG01447,HG01456,HG01462,HG01485,HG01486,HG01488,HG01489,HG01491,HG01494,HG01497,HG01498,HG01500,HG01501,HG01504,HG01509,HG01510,HG01512,HG01513,HG01515,HG01518,HG01519,HG01521,HG01522,HG01524,HG01525,HG01528,HG01530,HG01531,HG01536,HG01537,HG01556,HG01565,HG01566,HG01571,HG01572,HG01578,HG01583,HG01586,HG01589,HG01595,HG01597,HG01598,HG01599,HG01600,HG01602,HG01603,HG01607,HG01610,HG01613,HG01617,HG01618,HG01619,HG01620,HG01623,HG01624,HG01628,HG01630,HG01631,HG01668,HG01669,HG01670,HG01672,HG01673,HG01676,HG01678,HG01679,HG01680,HG01686,HG01694,HG01695,HG01697,HG01700,HG01702,HG01704,HG01710,HG01746,HG01747,HG01761,HG01762,HG01766,HG01771,HG01777,HG01783,HG01786,HG01789,HG01790,HG01794,HG01795,HG01798,HG01799,HG01800,HG01801,HG01802,HG01804,HG01805,HG01807,HG01808,HG01809,HG01810,HG01811,HG01812,HG01813,HG01815,HG01816,HG01817,HG01841,HG01842,HG01845,HG01846,HG01847,HG01849,HG01850,HG01851,HG01852,HG01853,HG01857,HG01858,HG01859,HG01860,HG01861,HG01862,HG01863,HG01864,HG01866,HG01867,HG01868,HG01869,HG01871,HG01872,HG01874,HG01878,HG01896,HG01920,HG01921,HG01923,HG01924,HG01932,HG01933,HG01935,HG01936,HG01939,HG01941,HG01944,HG01945,HG01947,HG01950,HG01951,HG01953,HG01954,HG01961,HG01965,HG01967,HG01968,HG01971,HG01973,HG01974,HG01976,HG01977,HG01979,HG01980,HG01982,HG01985,HG01988,HG01991,HG01992,HG02002,HG02003,HG02006,HG02008,HG02016,HG02017,HG02019,HG02023,HG02025,HG02029,HG02031,HG02035,HG02040,HG02048,HG02050,HG02057,HG02060,HG02061,HG02064,HG02067,HG02070,HG02072,HG02073,HG02078,HG02081,HG02084,HG02086,HG02087,HG02088,HG02089,HG02095,HG02104,HG02105,HG02113,HG02122,HG02127,HG02128,HG02130,HG02133,HG02134,HG02136,HG02137,HG02138,HG02139,HG02140,HG02142,HG02147,HG02151,HG02152,HG02153,HG02154,HG02156,HG02164,HG02165,HG02166,HG02178,HG02179,HG02180,HG02181,HG02184,HG02185,HG02186,HG02187,HG02188,HG02190,HG02215,HG02220,HG02221,HG02224,HG02231,HG02232,HG02235,HG02236,HG02239,HG02250,HG02252,HG02253,HG02265,HG02266,HG02271,HG02272,HG02274,HG02275,HG02283,HG02285,HG02286,HG02291,HG02292,HG02298,HG02299,HG02301,HG02312,HG02345,HG02348,HG02351,HG02355,HG02360,HG02364,HG02367,HG02373,HG02374,HG02375,HG02380,HG02382,HG02383,HG02384,HG02385,HG02386,HG02389,HG02391,HG02392,HG02394,HG02395,HG02396,HG02397,HG02398,HG02399,HG02401,HG02402,HG02406,HG02407,HG02408,HG02409,HG02420,HG02425,HG02450,HG02485,HG02489,HG02490,HG02493,HG02494,HG02512,HG02513,HG02521,HG02522,HG02558,HG02594,HG02595,HG02597,HG02603,HG02610,HG02624,HG02648,HG02649,HG02654,HG02655,HG02657,HG02658,HG02660,HG02661,HG02685,HG02688,HG02690,HG02691,HG02697,HG02716,HG02724,HG02727,HG02728,HG02731,HG02733,HG02734,HG02737,HG02763,HG02775,HG02778,HG02783,HG02784,HG02786,HG02787,HG02792,HG02793,HG02799,HG02804,HG02811,HG02816,HG02854,HG02923,HG03006,HG03007,HG03009,HG03015,HG03016,HG03019,HG03021,HG03052,HG03127,HG03168,HG03225,HG03228,HG03229,HG03234,HG03235,HG03237,HG03241,HG03419,HG03433,HG03446,HG03485,HG03488,HG03490,HG03491,HG03511,HG03520,HG03539,HG03556,HG03557,HG03585,HG03594,HG03595,HG03598,HG03603,HG03604,HG03607,HG03611,HG03619,HG03625,HG03629,HG03631,HG03634,HG03636,HG03640,HG03642,HG03643,HG03644,HG03645,HG03646,HG03649,HG03652,HG03653,HG03660,HG03663,HG03667,HG03668,HG03673,HG03680,HG03681,HG03684,HG03686,HG03687,HG03689,HG03691,HG03693,HG03694,HG03695,HG03696,HG03697,HG03698,HG03702,HG03703,HG03705,HG03706,HG03708,HG03713,HG03714,HG03717,HG03718,HG03720,HG03722,HG03730,HG03733,HG03736,HG03738,HG03741,HG03742,HG03744,HG03745,HG03750,HG03753,HG03762,HG03765,HG03767,HG03770,HG03772,HG03773,HG03775,HG03779,HG03780,HG03781,HG03785,HG03786,HG03787,HG03788,HG03789,HG03792,HG03796,HG03802,HG03808,HG03815,HG03817,HG03821,HG03823,HG03826,HG03829,HG03830,HG03833,HG03838,HG03846,HG03848,HG03851,HG03854,HG03856,HG03857,HG03858,HG03861,HG03862,HG03864,HG03866,HG03868,HG03871,HG03873,HG03874,HG03875,HG03882,HG03887,HG03888,HG03890,HG03894,HG03895,HG03896,HG03897,HG03899,HG03902,HG03905,HG03910,HG03913,HG03914,HG03916,HG03917,HG03919,HG03920,HG03922,HG03926,HG03931,HG03937,HG03940,HG03943,HG03945,HG03947,HG03949,HG03950,HG03951,HG03953,HG03955,HG03960,HG03965,HG03969,HG03973,HG03974,HG03976,HG03977,HG03978,HG03985,HG03991,HG03995,HG03998,HG03999,HG04002,HG04003,HG04014,HG04015,HG04019,HG04020,HG04022,HG04025,HG04026,HG04029,HG04033,HG04035,HG04038,HG04056,HG04059,HG04060,HG04062,HG04063,HG04070,HG04075,HG04080,HG04093,HG04096,HG04099,HG04100,HG04106,HG04131,HG04134,HG04140,HG04141,HG04146,HG04152,HG04153,HG04155,HG04156,HG04158,HG04161,HG04162,HG04164,HG04173,HG04176,HG04180,HG04182,HG04183,HG04185,HG04186,HG04188,HG04189,HG04194,HG04195,HG04198,HG04200,HG04206,HG04210,HG04211,HG04214,HG04216,HG04225,HG04227,HG04229,HG04235,HG04238,HG04239,NA06985,NA07000,NA07048,NA07051,NA07056,NA07347,NA10847,NA11894,NA11918,NA11920,NA11931,NA11933,NA11992,NA12003,NA12004,NA12006,NA12043,NA12144,NA12155,NA12156,NA12234,NA12275,NA12283,NA12286,NA12287,NA12341,NA12347,NA12348,NA12383,NA12489,NA12716,NA12717,NA12718,NA12748,NA12749,NA12750,NA12751,NA12760,NA12761,NA12763,NA12777,NA12812,NA12827,NA12828,NA12872,NA12873,NA12889,NA18526,NA18528,NA18531,NA18532,NA18533,NA18534,NA18535,NA18536,NA18537,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18557,NA18559,NA18560,NA18561,NA18562,NA18564,NA18565,NA18566,NA18567,NA18570,NA18571,NA18572,NA18573,NA18574,NA18577,NA18579,NA18582,NA18591,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18609,NA18610,NA18611,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18625,NA18627,NA18629,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18639,NA18640,NA18641,NA18642,NA18643,NA18644,NA18645,NA18646,NA18647,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18939,NA18940,NA18941,NA18943,NA18944,NA18945,NA18946,NA18947,NA18949,NA18950,NA18951,NA18952,NA18956,NA18957,NA18959,NA18961,NA18962,NA18963,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18976,NA18977,NA18978,NA18979,NA18980,NA18981,NA18982,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18993,NA18994,NA18995,NA18999,NA19000,NA19001,NA19002,NA19003,NA19004,NA19005,NA19006,NA19009,NA19010,NA19011,NA19012,NA19028,NA19036,NA19038,NA19043,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19066,NA19067,NA19068,NA19070,NA19074,NA19075,NA19076,NA19077,NA19081,NA19082,NA19083,NA19084,NA19085,NA19086,NA19087,NA19089,NA19090,NA19091,NA19351,NA19360,NA19436,NA19466,NA19467,NA19474,NA19652,NA19654,NA19657,NA19663,NA19669,NA19670,NA19682,NA19712,NA19717,NA19719,NA19722,NA19725,NA19726,NA19728,NA19729,NA19731,NA19734,NA19740,NA19747,NA19750,NA19755,NA19759,NA19770,NA19771,NA19774,NA19776,NA19777,NA19782,NA19788,NA19792,NA19794,NA19917,NA19982,NA19984,NA20296,NA20299,NA20314,NA20339,NA20342,NA20351,NA20359,NA20504,NA20505,NA20506,NA20509,NA20510,NA20512,NA20513,NA20515,NA20516,NA20520,NA20521,NA20522,NA20524,NA20525,NA20527,NA20528,NA20529,NA20531,NA20532,NA20533,NA20535,NA20536,NA20539,NA20540,NA20541,NA20581,NA20582,NA20585,NA20586,NA20587,NA20588,NA20753,NA20754,NA20755,NA20759,NA20760,NA20761,NA20762,NA20764,NA20765,NA20766,NA20768,NA20770,NA20771,NA20772,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20790,NA20795,NA20797,NA20798,NA20799,NA20800,NA20801,NA20804,NA20806,NA20809,NA20811,NA20812,NA20813,NA20814,NA20819,NA20822,NA20828,NA20832,NA20845,NA20847,NA20850,NA20851,NA20853,NA20854,NA20856,NA20859,NA20861,NA20863,NA20864,NA20867,NA20874,NA20876,NA20878,NA20881,NA20885,NA20886,NA20887,NA20888,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20900,NA20902,NA20904,NA20905,NA20906,NA20910,NA20911,NA21087,NA21089,NA21090,NA21091,NA21092,NA21093,NA21095,NA21097,NA21098,NA21099,NA21101,NA21102,NA21105,NA21108,NA21109,NA21110,NA21113,NA21115,NA21116,NA21117,NA21118,NA21119,NA21120,NA21122,NA21125,NA21126,NA21128,NA21129,NA21130,NA21133,NA21135,NA21137,NA21142,NA21144 esv2853236 1 17676167 17677660 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7122803 M 1 0 1 PADI4 HuRef nsv4749851 1 17676169 17677662 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16263324 M 25 0 1 PADI4 nsv5566583 1 17676172 17677664 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061594 M 35 0 1 PADI4 HG00731 nsv5869861 1 17676172 17677664 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350168 M 914 0 1 PADI4 dgv23e199 1 17676172 17677665 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2662192,esv2673709 M 1151 0 450 PADI4 HG00096,HG00098,HG00100,HG00106,HG00108,HG00111,HG00114,HG00118,HG00122,HG00123,HG00124,HG00125,HG00126,HG00136,HG00137,HG00138,HG00139,HG00143,HG00144,HG00145,HG00149,HG00150,HG00151,HG00154,HG00155,HG00158,HG00159,HG00160,HG00171,HG00173,HG00176,HG00177,HG00178,HG00181,HG00182,HG00183,HG00185,HG00186,HG00187,HG00188,HG00190,HG00236,HG00237,HG00239,HG00245,HG00246,HG00251,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00262,HG00263,HG00266,HG00268,HG00270,HG00271,HG00272,HG00273,HG00274,HG00275,HG00276,HG00277,HG00278,HG00280,HG00285,HG00306,HG00309,HG00315,HG00318,HG00319,HG00321,HG00323,HG00324,HG00326,HG00329,HG00334,HG00335,HG00336,HG00337,HG00339,HG00342,HG00344,HG00345,HG00353,HG00357,HG00366,HG00369,HG00372,HG00375,HG00377,HG00380,HG00403,HG00404,HG00418,HG00421,HG00422,HG00427,HG00428,HG00436,HG00442,HG00448,HG00449,HG00464,HG00475,HG00478,HG00479,HG00500,HG00501,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00543,HG00551,HG00553,HG00554,HG00556,HG00557,HG00559,HG00565,HG00566,HG00577,HG00578,HG00580,HG00581,HG00589,HG00590,HG00592,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00614,HG00619,HG00620,HG00626,HG00628,HG00629,HG00634,HG00635,HG00637,HG00638,HG00641,HG00650,HG00653,HG00654,HG00657,HG00663,HG00671,HG00672,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG00731,HG00732,HG00734,HG00737,HG01048,HG01052,HG01055,HG01060,HG01061,HG01066,HG01069,HG01070,HG01072,HG01075,HG01080,HG01082,HG01083,HG01095,HG01097,HG01101,HG01107,HG01112,HG01133,HG01134,HG01136,HG01137,HG01140,HG01148,HG01149,HG01168,HG01170,HG01173,HG01174,HG01182,HG01188,HG01190,HG01191,HG01198,HG01204,HG01250,HG01251,HG01350,HG01351,HG01354,HG01356,HG01357,HG01359,HG01360,HG01365,HG01374,HG01375,HG01378,HG01384,HG01437,HG01440,HG01441,HG01456,HG01462,HG01488,HG01489,HG01491,HG01494,HG01497,HG01498,HG01515,HG01518,HG01519,HG01521,HG01522,HG01550,NA07000,NA07048,NA07051,NA07056,NA07347,NA10847,NA11843,NA11918,NA11920,NA11931,NA11992,NA11993,NA12003,NA12004,NA12006,NA12155,NA12156,NA12275,NA12283,NA12287,NA12341,NA12347,NA12348,NA12489,NA12717,NA12748,NA12749,NA12750,NA12751,NA12761,NA12763,NA12828,NA18526,NA18532,NA18533,NA18534,NA18535,NA18537,NA18538,NA18539,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18557,NA18559,NA18560,NA18561,NA18562,NA18565,NA18566,NA18567,NA18570,NA18571,NA18572,NA18573,NA18574,NA18576,NA18577,NA18579,NA18582,NA18592,NA18595,NA18597,NA18599,NA18602,NA18603,NA18605,NA18609,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18618,NA18619,NA18621,NA18622,NA18623,NA18627,NA18630,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18940,NA18941,NA18943,NA18944,NA18945,NA18947,NA18949,NA18950,NA18951,NA18952,NA18956,NA18959,NA18961,NA18963,NA18964,NA18965,NA18967,NA18971,NA18972,NA18973,NA18974,NA18976,NA18977,NA18980,NA18981,NA18982,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18999,NA19000,NA19002,NA19003,NA19004,NA19005,NA19009,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19066,NA19067,NA19068,NA19070,NA19074,NA19075,NA19076,NA19077,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19360,NA19436,NA19466,NA19652,NA19654,NA19660,NA19663,NA19682,NA19685,NA19712,NA19717,NA19719,NA19722,NA19725,NA19726,NA19728,NA19729,NA19731,NA19750,NA19755,NA19759,NA19770,NA19774,NA19776,NA19777,NA19782,NA19788,NA19982,NA20299,NA20314,NA20344,NA20505,NA20510,NA20516,NA20525,NA20533,NA20540,NA20581,NA20586,NA20761,NA20768,NA20783,NA20798,NA20801,NA20809,NA20816 nsv5981757 1 17676172 17677665 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520558 M 405 0 1 PADI4 nsv3062260 1 17676173 17677666 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14025841 M 2 0 1 PADI4 CHM1 nsv2801068 1 17676174 17677666 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13688291 M 2 0 1 PADI4 nsv3320742 1 17676174 17677666 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488547,nssv14489348,nssv14475995,nssv14475418,nssv14486596,nssv14489801 M 14 0 6 PADI4 CHM1,HG01352,HG02059,HG02106,HG04217,HX1 nsv3201284 1 17676180 17677674 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14349920,nssv14349922,nssv14349921 M 9 0 3 PADI4 HG00731,HG00732,HG00733 nsv6333965 1 17676183 17677655 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053124 M 19652 0 1 PADI4 nsv5423748 1 17676184 17677653 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899915 M 3202 0 1 PADI4 nsv4048100 1 17676184 17677675 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850726 M 10847 0 1 PADI4 nsv1153189 1 17676187 17677662 CNV deletion John_et_al_2014 26484159 Sequencing nssv4001106 M 1 0 1 PADI4 KWB1 nsv545696 1 17676291 17676894 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv710928 M 17421 1 0 PADI4 dgv172n54 1 17676291 17676969 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545695,nsv545702 M 17421 0 2 PADI4 nsv545697 1 17676291 17677196 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711177,nssv711140,nssv711080,nssv710939,nssv711172,nssv711025,nssv711191,nssv711122,nssv711171,nssv711149,nssv711167,nssv711151,nssv710975,nssv710953,nssv711173,nssv711176,nssv710929,nssv710944,nssv711148,nssv711042,nssv711117,nssv711026,nssv711015,nssv711013,nssv710990,nssv711145,nssv711175,nssv711174,nssv710971,nssv711046,nssv711078,nssv711031,nssv711075,nssv711138,nssv711186,nssv710970,nssv711181,nssv711150,nssv711039,nssv711093,nssv711092,nssv711180,nssv711178,nssv711023,nssv711179,nssv711187,nssv711106,nssv710968,nssv711202,nssv710994,nssv711185,nssv711041,nssv711040,nssv711097,nssv711184,nssv711061,nssv711091,nssv710982,nssv711083,nssv710942,nssv711182,nssv711183,nssv710947,nssv711143,nssv711159,nssv711057,nssv711115,nssv711156,nssv710973,nssv711142,nssv711189,nssv711190,nssv711152,nssv711001,nssv711043,nssv711155,nssv711095,nssv710993,nssv710948,nssv711188,nssv710945,nssv711094,nssv711079,nssv710972,nssv711166,nssv711096,nssv710992,nssv711012,nssv711116,nssv711154,nssv711060,nssv710991,nssv711153,nssv710974,nssv710946,nssv711020,nssv710952,nssv711119,nssv711158,nssv711098,nssv710949,nssv711065,nssv710978,nssv711121,nssv711192,nssv711045,nssv710995,nssv711101,nssv711165,nssv711082,nssv711201,nssv711066,nssv711030,nssv711197,nssv711144,nssv711099,nssv710967,nssv710977,nssv711062,nssv711196,nssv711118,nssv711105,nssv711100,nssv710976,nssv711195,nssv711027,nssv711028,nssv711194,nssv710981,nssv711193,nssv710999,nssv711103,nssv711064,nssv711199,nssv711044,nssv711198,nssv711200,nssv711081,nssv711164,nssv711102,nssv710998,nssv710979,nssv711000,nssv710980,nssv711141,nssv711014,nssv710997,nssv710951,nssv711120,nssv710996,nssv711157,nssv711104,nssv711029,nssv711063,nssv710950,nssv711024,nssv711018,nssv711147,nssv711170,nssv711146,nssv711168,nssv711123,nssv711084,nssv711056,nssv710989,nssv711086,nssv711048,nssv711074,nssv711072,nssv711068,nssv711055,nssv711108,nssv711038,nssv710988,nssv711022,nssv711077,nssv711203,nssv711114,nssv711206,nssv711207,nssv711205,nssv710943,nssv711034,nssv711011,nssv711204,nssv710941,nssv711210,nssv711005,nssv710931,nssv711124,nssv711052,nssv710957,nssv710958,nssv711209,nssv710956,nssv711160,nssv711163,nssv711085,nssv711004,nssv711215,nssv711208,nssv710969,nssv711214,nssv711211,nssv711107,nssv711212,nssv711213,nssv710954,nssv710937,nssv710984,nssv710938,nssv710955,nssv711090,nssv711222,nssv711139,nssv711137,nssv711216,nssv711125,nssv710932,nssv711126,nssv711221,nssv711067,nssv711217,nssv711219,nssv710930,nssv711220,nssv711218,nssv711127,nssv711033,nssv711003,nssv710983,nssv711032,nssv711224,nssv711002,nssv711223,nssv711059,nssv711047,nssv711169,nssv711051,nssv711113,nssv711089,nssv710985,nssv711010,nssv711087,nssv711136,nssv711070,nssv711006,nssv710961,nssv711111,nssv710987,nssv711109,nssv711054,nssv711007,nssv711110,nssv710933,nssv711036,nssv711058,nssv710940,nssv710959,nssv711021,nssv711129,nssv711128,nssv711076,nssv711069,nssv711019,nssv710966,nssv711037,nssv710960,nssv711053,nssv711049,nssv711132,nssv711088,nssv710936,nssv711050,nssv710986,nssv711035,nssv711162,nssv711073,nssv711135,nssv711131,nssv710963,nssv711130,nssv711112,nssv711017,nssv710962,nssv711071,nssv711009,nssv711161,nssv710935,nssv711133,nssv711016,nssv711008,nssv710964,nssv711134,nssv710934,nssv710965 M 17421 0 296 PADI4 dgv173n54 1 17676291 17683041 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545709,nsv545698 M 17421 0 2 PADI4 dgv26n67 1 17676338 17677316 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv821909,nsv821921 M 31 0 10 PADI4 AK10,AK18,AK2,AK6,NA18542,NA18547,NA18582,NA18592,NA18947,NA18951 dgv174n54 1 17676343 17676740 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545699,nsv545700,nsv545701 M 17421 0 4 PADI4 dgv175n54 1 17676497 17677196 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545708,nsv545707,nsv545705,nsv545703 M 17421 0 7 PADI4 dgv176n54 1 17676548 17676908 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545706,nsv545704 M 17421 0 2 PADI4 esv2668971 1 17676755 17677069 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5733481,essv5531444,essv5611827,essv6093232,essv5854481,essv5738058,essv5818897,essv5407721,essv5887555,essv6464188,essv6408671,essv5435295,essv6491259,essv5426085,essv5620368,essv6571261,essv6064754,essv5857059,essv5793252,essv5687710,essv6547338,essv5987121,essv5674886,essv6416652,essv5660678,essv6515691,essv5915181,essv5954070,essv5925907,essv5565877,essv6070585,essv5784815,essv6555283,essv5676839,essv5856732,essv6597277,essv6575089,essv6242374,essv5509800,essv6458746,essv5555098,essv6048539,essv6056488,essv6325385,essv5753334,essv5552801,essv5613767,essv6260198,essv5971462,essv6360051,essv5993410,essv6323098,essv5885339,essv5898856,essv6390354,essv5733371,essv6125174,essv5799035,essv6471205,essv5779786,essv6546367,essv5456391,essv6251135,essv5544073,essv5410540,essv5734333,essv6184342,essv6148287,essv5566238,essv6440779,essv5933017,essv6356460,essv5795834,essv6480386,essv6433703,essv5971604,essv5404742,essv5575282,essv6348860,essv6346338,essv5875559,essv6588631,essv5561030,essv6119904,essv6560547,essv5599537,essv5627585,essv5916234,essv6211335,essv5536627,essv6018406,essv6515487,essv5735345,essv5618962,essv6213717,essv5451549,essv6522335,essv5551588,essv6218809,essv5529919,essv5417702,essv5552738,essv5398889,essv6366763,essv5995070,essv6327079,essv5718995,essv5702184,essv5922881,essv5501866,essv5508508,essv6219080,essv6190829,essv6496576,essv6590465,essv6496822,essv5951857,essv6587187,essv6053280,essv6157323,essv5449744,essv5875969,essv6175182,essv6295491,essv5427241,essv5671134,essv6147737,essv5779531,essv5683107,essv5722530,essv6103997,essv5583507,essv5702649,essv5474895,essv6435876,essv5464976,essv5818707,essv5852424,essv5959490,essv6331793,essv6041256,essv5540901,essv5442980,essv5778292,essv6399931,essv6178410,essv5497868,essv5923598,essv5667214,essv6015793,essv5430739,essv5941194,essv5449688,essv6010376,essv5957974,essv6201923,essv6159488,essv5583939,essv6489407,essv5786235,essv5986487,essv6357121,essv6585760,essv6286529,essv5597745,essv6040056,essv5425144,essv6534643,essv6504587,essv5777780,essv5730184,essv6319276,essv5899590,essv5831445,essv6197835,essv5468017,essv5804145,essv6597952,essv6255643,essv5903813,essv6289019,essv6214056,essv6036491,essv5439049,essv5560453,essv6100570,essv6270143,essv5815767,essv6237499,essv6575921,essv5558164,essv6425808,essv6519515,essv5740463,essv6175869,essv6013299,essv5812294,essv6020303,essv6064294,essv5845825,essv6572379,essv5452465,essv6041410,essv5710981,essv5876283,essv5638674,essv5898309,essv6040606,essv5814373,essv6234866,essv5457544,essv5751151,essv6589280,essv5927619,essv6056704,essv5775939,essv5864069,essv5666573,essv6177847,essv6137625,essv6427606,essv5491752,essv6588122,essv5415703,essv5619631,essv6504909,essv5965198,essv6370417,essv6363525,essv5560591,essv5812284,essv5741565,essv6001907,essv6317627,essv6211209,essv5764097,essv6408020,essv5546062,essv6310102,essv5843222,essv5794613,essv5492221,essv6311775,essv6145187,essv5599410,essv5544420,essv5696056,essv6277119,essv5899634,essv5843002,essv5480144,essv6187276,essv6433099,essv6258852,essv5492311,essv6372651,essv5723557,essv6555680,essv6493590,essv5742452,essv5441885,essv6069195,essv6533626,essv6492474,essv5902777,essv5429822,essv6384800,essv6480169,essv6014089,essv6586594,essv5563867,essv5661630,essv6140222,essv6162807,essv6300072,essv6513989,essv6463884,essv6354056,essv6533013,essv5899059,essv5822169,essv5679247,essv6231082,essv5560098,essv6398321,essv6004197,essv5936368,essv5772833,essv6098759,essv6566493,essv6082005,essv6057137,essv5962340,essv6387344,essv5922997,essv5519646,essv6520803,essv6112655,essv6263499,essv6251620,essv5556408,essv5523310,essv6327150,essv6296419,essv5486810,essv5410022,essv6394777,essv5918057,essv6590097,essv5498619,essv6297150,essv6348112,essv5901643,essv6305136,essv5843177,essv5967997,essv6052942,essv6117783,essv6077438,essv6351315,essv6258346,essv5767166,essv6128643,essv6223320,essv6206837,essv6392383,essv6116779,essv5532376,essv6105306,essv5714458,essv5993700,essv6318124,essv6400822,essv5640005,essv5974211,essv6488141,essv5442434,essv6527716,essv5831260,essv6341164,essv5531181,essv5475768,essv6145776,essv5542932,essv5400684,essv6122547,essv6227314,essv5606083,essv6300106,essv6300217,essv6071733,essv5828470,essv6022790,essv5651486,essv5470739,essv5726246,essv5959232,essv6462139,essv5955781,essv5768547,essv5666187,essv5959470,essv5641197,essv5656233,essv5976725,essv5986567,essv6265345,essv5681424,essv5686163,essv6544427,essv6493193,essv6421021,essv5857990,essv6558653,essv5774886,essv6487892,essv5755151,essv6523718,essv5606128,essv5998513,essv6088105,essv5587996,essv5822873,essv5549925,essv6133159,essv5947019,essv5932264,essv6316978,essv6353024,essv5400073,essv6438202,essv6216645,essv6300425,essv6098388,essv6472143,essv5497775,essv6074323,essv5895482,essv6226561,essv6278968,essv6589300,essv6442272,essv6075844,essv6325377,essv5719114,essv5617166,essv6061371,essv6343914,essv6042755,essv6128373,essv5661464,essv5830435,essv6011037,essv6279898,essv5516699,essv5655354,essv5923942,essv5768122,essv5560410,essv6292522,essv6539623,essv6533902,essv6175745,essv6286474,essv6076498,essv6571109,essv5949065,essv5596741,essv6495602,essv5910133,essv6251103,essv5766854,essv5978190,essv5529660,essv5634001,essv5563834,essv6561308,essv5471589,essv5906449,essv5495607,essv6303493,essv6110716,essv6014847 M 1151 0 443 PADI4 HG00100,HG00106,HG00108,HG00111,HG00114,HG00118,HG00122,HG00123,HG00124,HG00125,HG00126,HG00136,HG00137,HG00138,HG00139,HG00142,HG00143,HG00149,HG00150,HG00151,HG00154,HG00155,HG00158,HG00159,HG00160,HG00171,HG00173,HG00176,HG00177,HG00178,HG00182,HG00183,HG00185,HG00186,HG00187,HG00188,HG00190,HG00236,HG00237,HG00239,HG00245,HG00251,HG00253,HG00254,HG00256,HG00257,HG00258,HG00259,HG00261,HG00262,HG00263,HG00268,HG00270,HG00271,HG00272,HG00273,HG00274,HG00276,HG00277,HG00278,HG00280,HG00285,HG00306,HG00309,HG00315,HG00318,HG00319,HG00323,HG00324,HG00326,HG00329,HG00334,HG00335,HG00336,HG00337,HG00339,HG00344,HG00345,HG00353,HG00357,HG00366,HG00369,HG00372,HG00375,HG00377,HG00403,HG00404,HG00418,HG00421,HG00422,HG00427,HG00428,HG00436,HG00442,HG00448,HG00449,HG00464,HG00475,HG00478,HG00479,HG00500,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00543,HG00553,HG00554,HG00556,HG00557,HG00559,HG00565,HG00566,HG00577,HG00578,HG00580,HG00581,HG00584,HG00589,HG00590,HG00592,HG00595,HG00596,HG00607,HG00608,HG00611,HG00620,HG00628,HG00629,HG00634,HG00635,HG00637,HG00638,HG00641,HG00650,HG00653,HG00654,HG00657,HG00663,HG00671,HG00672,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG00731,HG00732,HG00734,HG00737,HG01048,HG01052,HG01055,HG01060,HG01061,HG01066,HG01067,HG01069,HG01070,HG01072,HG01075,HG01080,HG01082,HG01083,HG01095,HG01101,HG01107,HG01133,HG01134,HG01136,HG01137,HG01140,HG01148,HG01149,HG01170,HG01174,HG01190,HG01191,HG01198,HG01204,HG01250,HG01350,HG01351,HG01354,HG01356,HG01357,HG01359,HG01365,HG01374,HG01375,HG01378,HG01384,HG01437,HG01440,HG01441,HG01462,HG01488,HG01489,HG01491,HG01492,HG01494,HG01497,HG01515,HG01518,HG01519,HG01521,HG01522,NA07000,NA07048,NA07051,NA07056,NA07347,NA11918,NA11920,NA11931,NA11933,NA12003,NA12155,NA12275,NA12283,NA12286,NA12341,NA12347,NA12348,NA12383,NA12718,NA12748,NA12749,NA12751,NA12763,NA12777,NA12827,NA12889,NA18534,NA18535,NA18536,NA18538,NA18541,NA18542,NA18543,NA18544,NA18545,NA18546,NA18547,NA18548,NA18549,NA18550,NA18552,NA18553,NA18557,NA18559,NA18560,NA18561,NA18562,NA18564,NA18565,NA18566,NA18567,NA18570,NA18571,NA18572,NA18573,NA18574,NA18576,NA18577,NA18579,NA18582,NA18592,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18605,NA18609,NA18610,NA18612,NA18613,NA18614,NA18615,NA18616,NA18617,NA18619,NA18621,NA18622,NA18623,NA18627,NA18630,NA18631,NA18632,NA18633,NA18634,NA18635,NA18636,NA18637,NA18638,NA18940,NA18941,NA18944,NA18945,NA18949,NA18950,NA18951,NA18952,NA18956,NA18959,NA18961,NA18963,NA18964,NA18965,NA18977,NA18980,NA18982,NA18985,NA18986,NA18987,NA18988,NA18989,NA18990,NA18999,NA19000,NA19002,NA19003,NA19004,NA19009,NA19010,NA19012,NA19054,NA19055,NA19056,NA19057,NA19058,NA19059,NA19060,NA19062,NA19063,NA19064,NA19066,NA19067,NA19068,NA19070,NA19074,NA19075,NA19076,NA19077,NA19081,NA19082,NA19083,NA19084,NA19085,NA19087,NA19360,NA19436,NA19466,NA19467,NA19474,NA19652,NA19654,NA19657,NA19660,NA19663,NA19682,NA19685,NA19712,NA19717,NA19719,NA19720,NA19722,NA19725,NA19726,NA19731,NA19747,NA19755,NA19756,NA19770,NA19771,NA19776,NA19777,NA19782,NA19788,NA19982,NA20314,NA20342,NA20505,NA20506,NA20509,NA20510,NA20512,NA20520,NA20521,NA20524,NA20527,NA20528,NA20529,NA20533,NA20535,NA20537,NA20540,NA20581,NA20582,NA20585,NA20586,NA20588,NA20753,NA20754,NA20755,NA20759,NA20761,NA20765,NA20768,NA20770,NA20773,NA20774,NA20775,NA20778,NA20783,NA20785,NA20798,NA20799,NA20800,NA20801,NA20804,NA20806,NA20809,NA20811,NA20812,NA20813,NA20814,NA20816,NA20819,NA20828 nsv5981758 1 17677530 17677696 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531643 M 405 0 1 PADI4 nsv4045979 1 17678348 17678634 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963821 M 10847 1 0 PADI4 nsv3320743 1 17678427 17678542 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486088,nssv14479802,nssv14473044,nssv14480359 M 14 0 4 PADI4 HG00268,HG02818,NA19240,NA19434 nsv3321372 1 17678429 17678482 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480975,nssv14477127,nssv14479264,nssv14480125 M 14 0 4 PADI4 HG01352,HG02106,HG04217,NA12878 nsv6054144 1 17678433 17678433 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533314 M 405 1 0 PADI4 nsv5583803 1 17678446 17678499 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061595 M 35 0 1 PADI4 HG02011 nsv4517505 1 17678449 17679173 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850727 M 10847 0 1 PADI4 nsv5583757 1 17678450 17678598 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061596 M 35 0 1 PADI4 NA19238 dgv127n152 1 17678450 17678602 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280440,nsv3525278 M 9 0 2 PADI4 NA19238,NA19240 nsv5605405 1 17678452 17678452 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061597 M 35 1 0 PADI4 HG03683 nsv4739721 1 17678462 17678518 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16290167 M 25 0 1 PADI4 esv3550676 1 17678462 17678543 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9749423 M 767 0 1 PADI4 nsv1137737 1 17678462 17678543 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990244 M 2 0 1 PADI4 KWS2 nsv5981759 1 17678464 17678546 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525634 M 405 0 1 PADI4 nsv2800921 1 17678480 17678480 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681136 M 2 1 0 PADI4 nsv3320744 1 17678480 17678480 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485685,nssv14482029,nssv14479978 M 14 3 0 PADI4 CHM13,HG02059,HG02818 esv3665754 1 17678480 17678532 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488382 M 20 0 0 PADI4 nsv1152088 1 17678497 17678614 CNV deletion John_et_al_2014 26484159 Sequencing nssv3999267 M 1 0 1 PADI4 KWB1 nsv5612364 1 17678500 17678500 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061598 M 35 1 0 PADI4 NA19239 nsv6053692 1 17678507 17678507 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529536 M 405 1 0 PADI4 nsv3536570 1 17678527 17678527 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383683 M 9 1 0 PADI4 NA19240 nsv5618233 1 17678533 17678533 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061599 M 35 1 0 PADI4 HG03486 nsv4533525 1 17678534 17678535 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027623 M 10847 1 0 PADI4 nsv4533099 1 17678577 17678578 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027634 M 10847 1 0 PADI4 nsv5424981 1 17678607 17678802 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899916 M 3202 1 0 PADI4 nsv4536771 1 17678627 17678628 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027645 M 10847 1 0 PADI4 nsv5422160 1 17678627 17678693 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899917 M 3202 1 0 PADI4 nsv4534411 1 17678679 17678680 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027653 M 10847 1 0 PADI4 nsv6060286 1 17678705 17678705 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535061 M 405 1 0 PADI4 nsv5720909 1 17684087 17684087 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17238576,nssv17238421 M 3202 2 0 PADI4 nsv958215 1 17684727 17685070 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005200 M 1 0 1 PADI4 BILGI_BIOE esv3550900 1 17684743 17685108 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9749647 M 767 0 1 PADI4 nsv1068605 1 17684763 17685086 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770948 M 1 0 1 PADI4 KWP1 nsv5576067 1 17684764 17685085 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061601 M 35 0 1 PADI4 HG00731 nsv5879851 1 17684764 17685085 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352008 M 914 0 1 PADI4 nsv3943493 1 17684764 17685086 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181073 M 1 0 1 PADI4 HG002 nsv6331788 1 17684764 17685086 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053129 M 19652 0 1 PADI4 esv3681529 1 17684764 17685087 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467229 M 20 0 1 PADI4 dgv52n106 1 17684764 17685088 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1144085,nsv1122305 M 2 0 2 PADI4 KWS1,KWS2 dgv128n152 1 17684765 17685087 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3185392,nsv3521603 M 9 0 9 PADI4 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv2800828 1 17684766 17685087 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13704898 M 2 0 1 PADI4 nsv3320946 1 17684766 17685087 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14480243,nssv14490015,nssv14474574,nssv14487660,nssv14475631,nssv14481268,nssv14482479,nssv14488080 M 14 0 8 PADI4 CHM1,CHM13,HG00268,HG00733,HG02059,HG02818,HX1,NA19240 nsv4747669 1 17684771 17685092 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16290578 M 25 0 1 PADI4 nsv5962897 1 17684774 17684774 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361540 M 914 1 0 PADI4 nsv5981761 1 17684779 17685101 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523257 M 405 0 1 PADI4 nsv4043038 1 17684780 17685086 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850728 M 10847 0 1 PADI4 nsv5414767 1 17684780 17685086 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899919 M 3202 0 1 PADI4 nsv3061039 1 17684781 17685103 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14028306 M 2 0 1 PADI4 CHM1 nsv1153728 1 17684792 17685087 CNV deletion John_et_al_2014 26484159 Sequencing nssv4002382 M 1 0 1 PADI4 KWB1 nsv6553238 1 17694878 17695961 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248111 M 19652 0 0 "" esv3674535 1 17695013 17695014 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496286 M 20 0 0 "" nsv6550680 1 17695022 17695707 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248112 M 19652 0 0 "" esv3663266 1 17695709 17695709 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486143 M 20 1 0 "" nsv473158 1 17700921 17700921 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016455 M 9 1 0 PADI6 NA19129 esv2590404 1 17704772 17706200 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5203286 M 1 0 1 PADI6 NA18507 nsv4043418 1 17705414 17705908 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850730 M 10847 0 1 PADI6 esv2214804 1 17705422 17706069 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4985556 M 1 0 1 PADI6 NA18507 nsv5583187 1 17705596 17705907 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061607 M 35 0 1 PADI6 HG02818 nsv5886685 1 17705596 17705907 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353467 M 914 0 1 PADI6 nsv6334583 1 17705596 17705908 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053144 M 19652 0 1 PADI6 nsv3321373 1 17705598 17705909 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14476482,nssv14473830 M 14 0 2 PADI6 HG02818,NA19434 esv2626551 1 17705607 17705918 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5305827 M 1 0 1 PADI6 NA18507 nsv5426153 1 17705611 17705908 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899922 M 3202 0 1 PADI6 nsv478562 1 17722785 17722785 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011985 M 9 1 0 PADI6 NA18507 nsv5885346 1 17731167 17732137 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355109 M 914 0 1 "" nsv5828636 1 17731186 17732185 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452093 M 914 0 0 "" nsv5417434 1 17731204 17732117 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899933 M 3202 0 1 "" nsv945802 1 17733187 17735044 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755877,nssv1754311,nssv1755886,nssv1754313,nssv1755887,nssv1755926,nssv1755878,nssv1754314,nssv1755970,nssv1755948,nssv1755879,nssv1755950,nssv1755965,nssv1754318,nssv1755888,nssv1755922,nssv1755909,nssv1755953,nssv1755904,nssv1755920,nssv1755876,nssv1755923,nssv1755901,nssv1755952,nssv1755907,nssv1755958,nssv1755898,nssv1755919,nssv1755916,nssv1755941,nssv1755897,nssv1754312,nssv1755966,nssv1755973,nssv1755892,nssv1755936,nssv1755899,nssv1755944,nssv1755890,nssv1755921,nssv1755900,nssv1755927,nssv1755969,nssv1755937,nssv1755963,nssv1755929,nssv1755894,nssv1755945,nssv1755885,nssv1755925,nssv1755912,nssv1755947,nssv1755914,nssv1755943,nssv1755881,nssv1754315,nssv1755905,nssv1755939,nssv1755884,nssv1755932,nssv1755917,nssv1755928,nssv1755911,nssv1755931,nssv1755964,nssv1755940,nssv1755908,nssv1754317,nssv1755967,nssv1755954,nssv1755883,nssv1755972,nssv1755882,nssv1755959,nssv1755893,nssv1755960,nssv1755971,nssv1755938,nssv1755889,nssv1755955,nssv1755910,nssv1755951,nssv1755962,nssv1755942,nssv1755906,nssv1755930,nssv1755961,nssv1755949,nssv1755903,nssv1755956,nssv1755895,nssv1755918,nssv1755896,nssv1754316,nssv1755915,nssv1755934,nssv1755933 M 97 10 0 RCC2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5414529 1 17741968 17742324 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899944 M 3202 0 1 RCC2 nsv5423205 1 17746196 17746359 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899955 M 3202 0 1 RCC2 nsv3223239 1 17751569 17752087 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14274031 M 9 1 0 RCC2 HG00731 nsv4040943 1 17756714 17756768 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850731 M 10847 0 1 RCC2 nsv3531111 1 17757854 17757854 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438773 M 9 1 0 RCC2 HG00733 nsv5607370 1 17757855 17757855 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061934 M 35 1 0 RCC2 HG00732 nsv6042339 1 17757855 17757855 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522302 M 405 1 0 RCC2 nsv6331421 1 17763097 17765196 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053176 M 19652 0 1 RCC2 nsv6335545 1 17763797 17767796 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201046 M 19652 1 0 RCC2 dgv53n106 1 17764000 17765000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1121755,nsv1142749 M 2 0 2 RCC2 KWS1,KWS2 nsv3561907 1 17764165 17764165 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14351933 M 9 1 0 RCC2 HG00514 esv3663273 1 17764169 17764169 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486150 M 20 1 0 RCC2 nsv3532997 1 17764169 17764169 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438774,nssv14374808,nssv14412753 M 9 3 0 RCC2 HG00514,HG00733,NA19240 nsv3946295 1 17764169 17764169 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192585 M 1 1 0 RCC2 HG002 nsv4444722 1 17764169 17764169 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15758605 M 1 1 0 RCC2 nsv5606785 1 17764169 17764169 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061937 M 35 1 0 RCC2 HG00731 nsv6043266 1 17764169 17764169 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536018 M 405 1 0 RCC2 nsv4537430 1 17764169 17764170 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027663 M 10847 1 0 RCC2 nsv2800922 1 17764170 17764170 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13701820 M 2 1 0 RCC2 nsv3056072 1 17764170 17764170 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025877 M 2 1 0 RCC2 NA12878 nsv3320950 1 17764170 17764170 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479507,nssv14490016,nssv14478333,nssv14486166,nssv14479086,nssv14486560,nssv14480041,nssv14472349,nssv14473185,nssv14488636,nssv14478865,nssv14490830,nssv14488605 M 14 13 0 RCC2 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv4767115 1 17764172 17764172 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16273636 M 25 1 0 RCC2 nsv5548549 1 17764177 17764220 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899977 M 3202 1 0 RCC2 nsv1075665 1 17764199 17765000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767386 M 1 0 1 RCC2 KWP1 nsv821932 1 17764499 17766919 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426379 M 31 1 0 RCC2 AK6 nsv6324809 1 17765797 17766696 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053181 M 19652 0 1 RCC2 nsv6325350 1 17765997 17768496 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201048 M 19652 1 0 RCC2 nsv5828739 1 17768599 17775951 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463208 M 914 0 0 "" nsv6325368 1 17769171 17772293 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053187 M 19652 0 1 "" nsv475340 1 17769798 17769798 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019257 M 9 1 0 "" NA19240 nsv4046865 1 17770530 17777273 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963822 M 10847 1 0 "" nsv5423845 1 17770614 17778628 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899999 M 3202 0 1 "" nsv5828416 1 17771024 17780325 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450266 M 914 0 0 "" nsv5879303 1 17771313 17847965 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17360154 M 914 1 0 "" nsv6326151 1 17771313 17847966 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201049 M 19652 1 0 "" nsv5422439 1 17771446 17771866 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900008 M 3202 0 1 "" nsv4746441 1 17771702 17771878 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268249 M 25 0 1 "" nsv5982177 1 17771720 17771883 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523928 M 405 0 1 "" nsv6331259 1 17771842 17780907 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053190 M 19652 0 1 "" nsv5981702 1 17772219 17772433 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535296 M 405 0 1 "" nsv5431016 1 17773921 17781885 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900009 M 3202 1 0 "" nsv6551015 1 17775524 17776044 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248739 M 19652 0 0 "" nsv5433512 1 17775997 17776088 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683857 M 3202 0 1 "" nsv6318734 1 17776024 17777280 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201050 M 19652 1 0 "" nsv6321257 1 17776040 17777413 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053198 M 19652 0 1 "" nsv5427098 1 17776451 17777197 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900010 M 3202 0 1 "" nsv1000724 1 17776821 17840991 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464679 M 11257 1 0 "" nsv1154604 1 17776833 17849932 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4007063 M 131 1 0 "" nsv6319670 1 17777623 17787639 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053200 M 19652 0 1 "" nsv4037294 1 17778681 17780242 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850732 M 10847 0 1 "" nsv4033054 1 17780785 17781895 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963823 M 10847 1 0 "" nsv5428560 1 17780822 17782919 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900011 M 3202 0 1 "" nsv5963544 1 17781467 17781467 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17364436 M 914 1 0 "" nsv5885213 1 17781474 17781763 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365753 M 914 0 1 "" nsv6317416 1 17781668 17782691 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053203 M 19652 0 1 "" nsv6326923 1 17782408 17784732 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053204 M 19652 0 1 "" nsv5875253 1 17782621 17782920 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368516 M 914 0 1 "" nsv5828741 1 17785833 17791353 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468757,nssv17461142 M 914 0 0 "" nsv5982178 1 17789003 17789167 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531667 M 405 0 1 "" nsv6549416 1 17791681 17792075 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248743 M 19652 0 0 "" nsv5981766 1 17792484 17792586 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519068 M 405 0 1 "" nsv5828418 1 17796744 17804038 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459807 M 914 0 0 "" nsv5981705 1 17798542 17798631 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536637 M 405 0 1 "" nsv1119668 1 17798598 17798661 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982114 M 2 0 1 "" KWS1 nsv6317707 1 17798820 17800311 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053217 M 19652 0 1 "" nsv6540364 1 17801507 17802107 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248747 M 19652 0 0 "" nsv5981706 1 17802050 17802117 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524370 M 405 0 1 "" nsv6553505 1 17802959 17803879 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248748 M 19652 0 0 "" nsv4045976 1 17803621 17803713 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850733 M 10847 0 1 "" nsv4040170 1 17804620 17813689 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850734 M 10847 0 1 "" nsv6325955 1 17804626 17813696 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053221 M 19652 0 1 "" nsv6334743 1 17805164 17807195 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053222 M 19652 0 1 "" nsv5828640 1 17805964 17839310 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457164 M 914 0 0 "" esv3674538 1 17809901 17809902 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496289 M 20 0 0 "" nsv4046986 1 17810198 17856510 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963824 M 10847 1 0 "" nsv5981707 1 17811082 17811248 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534337 M 405 0 1 "" nsv4034293 1 17811600 17815164 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850735 M 10847 0 1 "" nsv6323098 1 17811627 17815164 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053225 M 19652 0 1 "" esv3670816 1 17813887 17813887 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492939 M 20 1 0 "" nsv6546533 1 17814689 17815166 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248756 M 19652 0 0 "" nsv6538946 1 17814850 17815231 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248757 M 19652 0 0 "" nsv1133819 1 17815109 17815176 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970143 M 2 0 1 "" KWS2 esv2658880 1 17815616 17819866 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5837730 M 1151 0 1 "" NA19078 esv3585368 1 17815655 17819730 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876180 M 2504 0 1 "" NA19078 nsv945804 1 17815695 17829119 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1754405,nssv1754332,nssv1754320,nssv1754347,nssv1754322,nssv1754397,nssv1754329,nssv1754401,nssv1754321,nssv1754326,nssv1754328,nssv1754335,nssv1754394,nssv1754337,nssv1754360,nssv1754323,nssv1754391,nssv1754343,nssv1754365,nssv1754344,nssv1754373,nssv1754338,nssv1754387,nssv1754356,nssv1754393,nssv1754342,nssv1754411,nssv1754327,nssv1754409,nssv1754403,nssv1754407,nssv1754345,nssv1754375,nssv1754330,nssv1754396,nssv1754406,nssv1754378,nssv1754404,nssv1754362,nssv1754351,nssv1754358,nssv1754346,nssv1754370,nssv1754352,nssv1754410,nssv1754402,nssv1754385,nssv1754319,nssv1754374,nssv1754341,nssv1754366,nssv1754350,nssv1754382,nssv1754399,nssv1754408,nssv1754348,nssv1754380,nssv1754324,nssv1754389,nssv1754339,nssv1755032,nssv1754349,nssv1754414,nssv1754325,nssv1754377,nssv1754355,nssv1754367,nssv1754336,nssv1754363,nssv1754398,nssv1754368,nssv1754334,nssv1754392,nssv1754400,nssv1754381,nssv1754353,nssv1754388,nssv1754354,nssv1754369,nssv1754331,nssv1754412,nssv1754333,nssv1754383,nssv1754340,nssv1754361,nssv1754379,nssv1754364,nssv1754386,nssv1754395,nssv1754357,nssv1754413,nssv1754415,nssv1754372,nssv1754371,nssv1754384,nssv1754390,nssv1754359 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5413942 1 17815852 17819908 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900013 M 3202 0 1 "" nsv5730854 1 17820855 17820855 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236295 M 3202 1 0 "" nsv4558339 1 17820855 17820856 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027673 M 10847 1 0 "" nsv4049394 1 17824938 17826154 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850736 M 10847 0 1 "" nsv6317615 1 17825766 17828576 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053232 M 19652 0 1 "" nsv6325828 1 17826501 17835041 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053233 M 19652 0 1 "" nsv6333727 1 17827758 17847403 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201054 M 19652 1 0 "" nsv4036966 1 17829600 17830575 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850738 M 10847 0 1 "" nsv4187 1 17829944 17863993 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2861 M 9 1 0 "" NA18555 nsv6323341 1 17830297 17832196 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053234 M 19652 0 1 "" nsv6328206 1 17830486 17831430 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201055 M 19652 1 0 "" nsv5874224 1 17831335 17831642 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364252 M 914 0 1 "" nsv4459725 1 17832508 17832509 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027682 M 10847 1 0 "" nsv1126980 1 17833938 17834000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985269 M 2 0 1 "" KWS1 nsv5882049 1 17839156 17840878 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357218 M 914 0 1 "" esv3585369 1 17840332 17844303 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876181 M 2504 0 1 "" NA18637 esv2676950 1 17840390 17844226 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5798081 M 1151 0 1 "" NA18637 nsv5425546 1 17840464 17844323 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900015 M 3202 0 1 "" nsv6537008 1 17844080 17845015 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248766 M 19652 0 0 "" nsv5981708 1 17846795 17846992 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522480 M 405 0 1 "" nsv6045707 1 17850867 17850867 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535598 M 405 1 0 "" nsv5430387 1 17851659 17863658 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900016 M 3202 0 1 "" esv3585370 1 17852589 17863249 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876182 M 2504 0 1 "" HG00452 nsv5828421 1 17852724 17863660 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452032 M 914 0 0 "" nsv5720879 1 17852740 17852740 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236828 M 3202 1 0 "" nsv4045295 1 17852900 17863800 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850739 M 10847 0 1 "" dgv8n145 1 17853751 17863844 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nsv3118340,nsv3115091 M 467 0 2 "" sample176,sample339 nsv834302 1 17857931 18039947 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443785,nssv1443796 M 95 0 2 ARHGEF10L nsv5828747 1 17859827 17861026 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458914 M 914 0 0 "" esv997027 1 17861778 17877078 OTHER inversion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564910 M 3 0 0 ARHGEF10L HuRef nsv4034589 1 17862447 17863284 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850740 M 10847 0 1 "" nsv6326975 1 17868119 17868737 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054364 M 19652 0 1 ARHGEF10L esv3585371 1 17868275 17869946 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876183 M 2504 0 1 ARHGEF10L NA18943 nsv5418398 1 17868320 17869858 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900017 M 3202 0 1 ARHGEF10L nsv4035605 1 17869480 17869985 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850741 M 10847 0 1 ARHGEF10L nsv5678740 1 17879865 17879865 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17178717 M 3202 1 0 ARHGEF10L nsv5394390 1 17879865 17879916 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900018 M 3202 1 0 ARHGEF10L nsv4518004 1 17882662 17882771 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850742 M 10847 0 1 ARHGEF10L nsv4035806 1 17882724 17882797 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850743 M 10847 0 1 ARHGEF10L nsv5571657 1 17882729 17882814 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061640 M 35 0 1 ARHGEF10L NA19238 nsv3201226 1 17882729 17882815 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14352495,nssv14352496 M 9 0 2 ARHGEF10L NA19238,NA19240 nsv3173181 1 17882730 17882816 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374371 M 9 0 0 ARHGEF10L NA19240 nsv3320747 1 17882731 17882816 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480010 M 14 0 1 ARHGEF10L NA19240 nsv818089 1 17887963 17903298 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417309 M 112 0 1 ARHGEF10L NA18608 nsv470701 1 17887963 17918600 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547714 M 443 0 1 ARHGEF10L HGDP00825 nsv5876180 1 17888668 17888804 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17366032 M 914 1 0 ARHGEF10L nsv4046797 1 17888668 17888820 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963825 M 10847 1 0 ARHGEF10L nsv5431260 1 17888668 17888820 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900019 M 3202 1 0 ARHGEF10L esv988531 1 17889411 17899949 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563476 M 3 0 1 ARHGEF10L HuRef nsv5428543 1 17890031 17890386 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900020 M 3202 1 0 ARHGEF10L nsv460673 1 17892816 17918600 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537212 M 1557 0 1 ARHGEF10L HGDP00553 nsv545710 1 17892816 17918600 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173788 M 17421 0 1 ARHGEF10L HGDP00553 nsv6319657 1 17896896 17898295 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053689 M 19652 0 1 ARHGEF10L nsv4047879 1 17905667 17909052 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850744 M 10847 0 1 ARHGEF10L nsv954872 1 17912201 18036300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003144 M 1 0 1 ARHGEF10L BILGI_BIOE nsv5541553 1 17920082 17920132 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900021 M 3202 1 0 ARHGEF10L nsv4517240 1 17920132 17920189 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963826 M 10847 1 0 ARHGEF10L nsv5609139 1 17920671 17920671 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061350 M 35 1 0 ARHGEF10L HG01596 nsv5880914 1 17920671 17920755 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17362524 M 914 1 0 ARHGEF10L nsv4041270 1 17920671 17920757 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963827 M 10847 1 0 ARHGEF10L nsv6059166 1 17920688 17920688 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529343 M 405 1 0 ARHGEF10L nsv4050272 1 17921635 17921702 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850745 M 10847 0 1 ARHGEF10L nsv6331400 1 17926339 17936816 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053708 M 19652 0 1 ARHGEF10L nsv6324769 1 17935093 17935861 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053714 M 19652 0 1 ARHGEF10L nsv4298 1 17941666 17962669 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8255 M 9 0 1 ARHGEF10L NA12156 nsv4564094 1 17959811 17959812 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025850 M 10847 1 0 ARHGEF10L nsv5723931 1 17959825 17959825 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17240190 M 3202 1 0 ARHGEF10L esv3663299 1 17968475 17968475 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486173 M 20 1 0 ARHGEF10L nsv5419704 1 17978632 17978720 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900038 M 3202 1 0 ARHGEF10L nsv1160182 1 17981913 18608879 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026179 M 369 1 0 ACTL8,ARHGEF10L,IGSF21 nsv4459739 1 17988380 17988381 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025858 M 10847 1 0 ARHGEF10L nsv5678352 1 17988395 17988395 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205666,nssv17177278 M 3202 2 0 ARHGEF10L nsv5408081 1 17988395 17988446 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900666 M 3202 1 0 ARHGEF10L nsv1154613 1 17989765 18132269 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4007064 M 131 1 0 ACTL8,ARHGEF10L nsv5886952 1 17994650 17995666 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350942 M 914 0 1 ARHGEF10L nsv6316576 1 17994650 17995667 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053751 M 19652 0 1 ARHGEF10L esv3585373 1 17997675 18003884 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876206,essv9876207,essv9876210,essv9876209,essv9876208 M 2504 0 5 ARHGEF10L HG01055,HG03265,NA19017,NA19355,NA20321 esv2659798 1 17997723 18003855 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6019654,essv6083805,essv6231586 M 1151 0 3 ARHGEF10L HG01055,NA19359,NA20322 nsv4042234 1 17997723 18003855 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850746 M 10847 0 1 ARHGEF10L nsv5421054 1 17997723 18003855 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898820 M 3202 0 1 ARHGEF10L nsv6322980 1 17997723 18003855 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053754 M 19652 0 1 ARHGEF10L nsv4037358 1 17998344 17999604 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850747 M 10847 0 1 ARHGEF10L nsv6319972 1 17998344 17999604 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053755 M 19652 0 1 ARHGEF10L esv2764267 1 17998481 18003946 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005182,essv7005181 M 1109 0 2 ARHGEF10L RW_0079,RW_0090 nsv518693 1 17998777 18000627 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696144 M 2026 0 1 ARHGEF10L nsv6333777 1 18001896 18002995 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201084 M 19652 1 0 ARHGEF10L esv3681785 1 18002543 18002664 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467252 M 20 0 1 ARHGEF10L esv3663313 1 18002746 18002746 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486186 M 20 1 0 ARHGEF10L esv3681851 1 18002773 18002857 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467258 M 20 0 1 ARHGEF10L nsv4432998 1 18009569 18009929 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15745766 M 15 0 1 ARHGEF10L SMI034 nsv4741217 1 18009576 18009771 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259252 M 25 0 1 ARHGEF10L esv2661094 1 18009607 18009864 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6494099,essv6529968,essv5408908,essv6054663,essv6444158,essv6504484,essv6285990,essv5654483,essv6459527,essv6421116,essv6431843,essv6560865,essv5719322,essv5818974,essv6279593,essv6283282,essv5849927,essv5693568,essv5885133,essv6402872,essv6531610,essv6336514,essv5942546,essv5471448,essv6161024,essv5742045,essv5878829,essv6318610,essv6041365,essv6233303,essv6127850,essv6464162,essv6487250,essv6144540,essv6426380,essv5834010,essv5656296,essv5959897,essv6259537,essv5897210,essv5495308,essv5867182,essv6341178,essv6422733,essv6146675,essv5494918,essv6078925,essv5491675,essv5400854,essv5922399 M 1151 0 50 ARHGEF10L HG00108,HG00111,HG00124,HG00127,HG00237,HG00250,HG00251,HG00275,HG00280,HG00284,HG00285,HG00313,HG00331,HG00334,HG00342,HG00343,HG00344,HG00418,HG00443,HG00479,HG00531,HG00580,HG00656,HG00693,HG00698,HG00699,HG00702,HG00707,HG00708,HG01061,HG01067,HG01073,HG01250,HG01351,HG01365,HG01437,HG01440,HG01441,NA18486,NA18544,NA18548,NA18596,NA18612,NA18633,NA19360,NA19374,NA19398,NA19403,NA19762,NA20291 esv3551122 1 18009637 18009892 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9749869 M 767 0 1 ARHGEF10L nsv2801075 1 18009641 18009808 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13695039 M 2 0 1 ARHGEF10L nsv3321188 1 18009641 18009808 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491667,nssv14490712,nssv14479991,nssv14474738 M 14 0 4 ARHGEF10L CHM1,HG00733,HG02059,NA19434 nsv3282995 1 18009647 18009815 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14442578 M 9 0 1 ARHGEF10L HG00733 esv3665865 1 18009695 18009921 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488482 M 20 0 0 ARHGEF10L nsv4432999 1 18009703 18009888 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15749429 M 15 0 1 ARHGEF10L MDQ045 nsv5572225 1 18009720 18009916 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061366 M 35 0 1 ARHGEF10L HG00732 nsv5981855 1 18009723 18009918 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521104 M 405 0 1 ARHGEF10L nsv3320961 1 18009824 18009947 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488632 M 14 0 1 ARHGEF10L NA19434 nsv3213726 1 18012219 18021512 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261383,nssv14261382,nssv14261379,nssv14261378,nssv14261380,nssv14261377,nssv14261385,nssv14261384,nssv14261381 M 9 9 0 ARHGEF10L HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3585374 1 18013086 18019111 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876211 M 2504 0 1 ARHGEF10L HG02016 nsv5414716 1 18013118 18019133 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898821 M 3202 0 1 ARHGEF10L nsv512721 1 18015300 18015985 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625346 M 1 1 0 ARHGEF10L 1 nsv3533401 1 18015600 18015600 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412754 M 9 1 0 ARHGEF10L HG00514 nsv3214707 1 18015600 18022928 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271691 M 9 1 0 ARHGEF10L HG00512 nsv5616437 1 18015934 18015934 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061367 M 35 1 0 ARHGEF10L NA18534 esv3351922 1 18015939 18016134 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652056 M 185 1 0 ARHGEF10L NA19240 nsv4750579 1 18015941 18015941 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16276365 M 25 1 0 ARHGEF10L nsv2800833 1 18015948 18015948 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691978 M 2 1 0 ARHGEF10L nsv3321189 1 18015948 18015948 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475569,nssv14475676,nssv14489995,nssv14478868,nssv14483170,nssv14479926,nssv14476902,nssv14483752,nssv14482484 M 14 9 0 ARHGEF10L CHM1,HG00268,HG00733,HG02059,HG02106,HG02818,NA12878,NA19240,NA19434 nsv3320755 1 18015950 18015950 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485978,nssv14487230 M 14 2 0 ARHGEF10L HG02059,HG02818 nsv3533502 1 18015973 18015973 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384664 M 9 1 0 ARHGEF10L NA19240 nsv3929300 1 18015976 18015976 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192586 M 1 1 0 ARHGEF10L HG002 nsv5611443 1 18015976 18015976 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061368 M 35 1 0 ARHGEF10L HG01596 nsv6048726 1 18015976 18015976 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535307 M 405 1 0 ARHGEF10L nsv3320756 1 18015977 18015977 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482329,nssv14487218,nssv14487796,nssv14491724,nssv14481743,nssv14487824,nssv14489650,nssv14476168,nssv14490795,nssv14475454 M 14 10 0 ARHGEF10L CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,NA12878,NA19240,NA19434 nsv5614369 1 18015978 18015978 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061369 M 35 1 0 ARHGEF10L HG00731 nsv2801076 1 18015979 18015979 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683516 M 2 1 0 ARHGEF10L nsv3064031 1 18015981 18015981 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14038339 M 2 1 0 ARHGEF10L NA12878 nsv2800927 1 18015982 18015982 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681252 M 2 1 0 ARHGEF10L nsv3321385 1 18015982 18015982 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479338,nssv14484318,nssv14485363,nssv14485523,nssv14472398,nssv14478558,nssv14483415,nssv14480160,nssv14482608 M 14 9 0 ARHGEF10L CHM1,HG00268,HG00733,HG02059,HG02106,HG02818,NA12878,NA19240,NA19434 nsv3538068 1 18015987 18015987 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438775 M 9 1 0 ARHGEF10L HG00733 nsv4039702 1 18016000 18028000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963828 M 10847 1 0 ARHGEF10L nsv2800928 1 18016029 18016029 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690228 M 2 1 0 ARHGEF10L nsv3536078 1 18016045 18016045 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438776 M 9 1 0 ARHGEF10L HG00733 nsv3320757 1 18016057 18016057 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482064,nssv14473065,nssv14475374 M 14 3 0 ARHGEF10L HG00514,HG02059,HG02818 nsv5611272 1 18016071 18016071 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061370 M 35 1 0 ARHGEF10L HG00731 nsv5878819 1 18016183 18016415 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359440 M 914 0 1 ARHGEF10L nsv4044257 1 18016184 18016416 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850749 M 10847 0 1 ARHGEF10L nsv5418812 1 18016184 18016416 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898822 M 3202 0 1 ARHGEF10L nsv4039992 1 18018424 18065964 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963829 M 10847 1 0 ARHGEF10L nsv4042556 1 18027720 18662947 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963830 M 10847 1 0 ACTL8,IGSF21 nsv3205167 1 18029546 18033445 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14353180,nssv14353174,nssv14353178,nssv14353177,nssv14353175,nssv14353176,nssv14353179,nssv14353173,nssv14353172 M 9 0 9 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv6329538 1 18030790 18035088 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053775 M 19652 0 1 "" nsv4042413 1 18032000 18134000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963831 M 10847 1 0 ACTL8 nsv3320761 1 18054117 18054117 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483005 M 14 1 0 "" HG02106 nsv3321191 1 18054181 18054271 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486695 M 14 0 1 "" HG02106 nsv5611641 1 18054196 18054196 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061375 M 35 1 0 "" NA19650 nsv4534223 1 18054226 18054227 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025867 M 10847 1 0 "" nsv3561305 1 18054267 18054267 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14352719 M 9 1 0 "" HG00513 nsv5964791 1 18058319 18058319 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17359981 M 914 1 0 "" nsv6326498 1 18058320 18058707 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053786 M 19652 0 1 "" nsv6047578 1 18058328 18058328 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518507 M 405 1 0 "" nsv5541498 1 18058331 18058370 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16898825 M 3202 1 0 "" nsv4750966 1 18058333 18058333 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16270244 M 25 1 0 "" esv2668483 1 18061683 18063084 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6007743,essv6230113 M 1151 0 2 "" NA18544,NA18619 esv3585375 1 18061714 18063037 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876214,essv9876213,essv9876212 M 2504 0 3 "" NA18544,NA18619,NA18748 nsv6326737 1 18061796 18064895 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053789 M 19652 0 1 "" nsv4050961 1 18061798 18063021 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850750 M 10847 0 1 "" nsv5420670 1 18061798 18063021 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683858 M 3202 0 1 "" nsv6321799 1 18064060 18064644 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053793 M 19652 0 1 "" nsv508248 1 18064405 18140305 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622757 M 4 0 1 ACTL8 NA18994 nsv4517023 1 18064730 18065220 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850751 M 10847 0 1 "" esv3663336 1 18068910 18068910 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486206 M 20 1 0 "" nsv4046095 1 18073241 18076420 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850752 M 10847 0 1 "" nsv518590 1 18073505 18074702 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696036 M 2026 0 1 "" nsv4536407 1 18080827 18080828 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025878 M 10847 1 0 "" nsv3931101 1 18094810 18094810 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192587 M 1 1 0 ACTL8 HG002 nsv4444723 1 18094810 18094810 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757566 M 1 1 0 ACTL8 nsv5604711 1 18094810 18094810 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061383 M 35 1 0 ACTL8 HG00731 nsv5885539 1 18094810 18094859 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17362158 M 914 1 0 ACTL8 nsv5415487 1 18094810 18094860 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899169 M 3202 1 0 ACTL8 nsv2800188 1 18094811 18094811 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13707097 M 2 1 0 ACTL8 nsv3321386 1 18094811 18094811 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489058,nssv14477380,nssv14486432,nssv14483555 M 14 4 0 ACTL8 CHM1,CHM13,HG01352,HG02106 nsv6059029 1 18094831 18094831 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520937 M 405 1 0 ACTL8 nsv3184872 1 18094837 18094887 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438777 M 9 0 0 ACTL8 HG00733 nsv4751180 1 18094846 18094846 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16274314 M 25 1 0 ACTL8 nsv4032557 1 18094860 18095702 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850753 M 10847 0 1 ACTL8 nsv3321194 1 18095172 18095239 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476363 M 14 0 1 ACTL8 NA19434 nsv4044482 1 18106747 18106914 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963832 M 10847 1 0 ACTL8 nsv5828429 1 18108429 18109930 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452404 M 914 0 0 ACTL8 esv3585376 1 18108493 18109753 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876216,essv9876215,essv9876217,essv9876218,essv9876219 M 2504 0 5 ACTL8 NA19351,NA19374,NA19434,NA19436,NA19438 nsv5872002 1 18108502 18109750 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366389 M 914 0 1 ACTL8 esv2669735 1 18108502 18109751 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6161052,essv5631732 M 1151 0 2 ACTL8 NA19434,NA19438 nsv6331001 1 18108502 18109751 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054010 M 19652 0 1 ACTL8 nsv4036489 1 18108503 18109751 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850754 M 10847 0 1 ACTL8 nsv5423385 1 18108503 18109751 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899170 M 3202 0 1 ACTL8 nsv3320964 1 18108504 18109752 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473755 M 14 0 1 ACTL8 NA19434 nsv4559399 1 18119574 18119575 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027872 M 10847 1 0 ACTL8 nsv1154624 1 18127396 18159495 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4007066 M 131 1 0 ACTL8 nsv3541113 1 18128271 18128271 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438778 M 9 1 0 ACTL8 HG00733 nsv5417440 1 18131851 18132030 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899171 M 3202 0 1 ACTL8 esv3681918 1 18139104 18139159 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467264 M 20 0 1 ACTL8 nsv6042330 1 18141094 18141094 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524459 M 405 1 0 ACTL8 nsv4751430 1 18141230 18141230 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16286285 M 25 1 0 ACTL8 nsv4042667 1 18143870 18145630 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850755 M 10847 0 1 ACTL8 nsv6324060 1 18147241 18148301 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054036 M 19652 0 1 ACTL8 nsv6329902 1 18151204 18151677 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054039 M 19652 0 1 ACTL8 nsv4040908 1 18176394 18176477 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850757 M 10847 0 1 "" nsv5433420 1 18176394 18176477 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899172 M 3202 0 1 "" nsv4758737 1 18186002 18186002 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16273391 M 25 1 0 "" nsv4444724 1 18186003 18186003 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15756192 M 1 1 0 "" nsv3053495 1 18186070 18186070 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14027581 M 2 1 0 "" NA12878 nsv3321195 1 18186151 18186151 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490414 M 14 1 0 "" NA19434 nsv3064032 1 18186154 18186154 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033753 M 2 1 0 "" NA12878 nsv3533450 1 18186161 18186161 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374175,nssv14412755,nssv14438779 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3927021 1 18186161 18186161 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192588 M 1 1 0 "" HG002 nsv5618121 1 18186161 18186161 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061390 M 35 1 0 "" HG00731 nsv6055432 1 18186161 18186161 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518802 M 405 1 0 "" nsv2800930 1 18186162 18186162 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692550,nssv13685221 M 2 2 0 "" nsv3320766 1 18186162 18186162 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482986,nssv14474542,nssv14482296,nssv14472353,nssv14478692,nssv14473249,nssv14477466,nssv14479186,nssv14488939,nssv14478691,nssv14480166,nssv14481785,nssv14476588 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240 nsv3058820 1 18186176 18186176 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033225 M 2 1 0 "" CHM1 nsv5539528 1 18186193 18186212 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899174 M 3202 1 0 "" nsv6331522 1 18187878 18195899 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054059 M 19652 0 1 "" esv3585377 1 18190465 18194019 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876220 M 2504 0 1 "" HG01890 nsv4033515 1 18190518 18194065 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850758 M 10847 0 1 "" nsv5418626 1 18190518 18194065 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899178 M 3202 0 1 "" nsv6320407 1 18190518 18194065 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054061 M 19652 0 1 "" nsv3926558 1 18195125 18195125 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192589 M 1 1 0 "" HG002 nsv4752147 1 18195125 18195125 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16274045 M 25 1 0 "" nsv5535975 1 18195125 18195128 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899189 M 3202 1 0 "" nsv2800834 1 18195126 18195126 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13701194 M 2 1 0 "" nsv3051633 1 18195126 18195126 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031211 M 2 1 0 "" NA12878 nsv3320767 1 18195126 18195126 CNV mobile element insertion Audano_et_al_2019 30661756 Sequencing nssv14489337,nssv14488612,nssv14482592,nssv14488296,nssv14472571,nssv14489237,nssv14482595,nssv14483065,nssv14489664,nssv14480946,nssv14479906,nssv14480712,nssv14485304,nssv14479251 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3060766 1 18195128 18195128 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14030872 M 2 1 0 "" CHM1 nsv3558254 1 18195128 18195128 CNV mobile element insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383239,nssv14412756,nssv14438781 M 9 3 0 "" HG00514,HG00733,NA19240 nsv5604914 1 18195128 18195128 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061391 M 35 1 0 "" HG00731 nsv6040893 1 18195128 18195128 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531388 M 405 1 0 "" esv3663345 1 18197857 18197857 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486214 M 20 1 0 "" nsv1154634 1 18198436 18530585 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4007067 M 131 1 0 IGSF21 nsv6324424 1 18215400 18215843 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054092 M 19652 0 1 "" nsv4044222 1 18221255 18227086 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850759 M 10847 0 1 "" nsv4752096 1 18223970 18223970 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16272473 M 25 1 0 "" nsv6058361 1 18224000 18224000 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531151 M 405 1 0 "" nsv5982193 1 18224016 18224068 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530331 M 405 0 1 "" nsv5608291 1 18224081 18224081 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061400 M 35 1 0 "" HG00732 nsv5967300 1 18224085 18224085 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363949 M 914 1 0 "" nsv161140 1 18224131 18224131 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179718 M 24 "" esv275339 1 18230535 18236619 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585726 M 1250 0 1 "" nsv5882234 1 18250617 18250692 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17354416 M 914 1 0 "" nsv4516687 1 18250617 18250694 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963833 M 10847 1 0 "" nsv5416130 1 18250617 18250694 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899211 M 3202 1 0 "" nsv6053892 1 18255389 18255389 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524720 M 405 1 0 "" esv3585378 1 18258853 18260239 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876221,essv9876223,essv9876222 M 2504 0 3 "" HG02768,HG03394,NA19922 nsv4046934 1 18258896 18260222 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850760 M 10847 0 1 "" nsv5418261 1 18258896 18260222 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899231 M 3202 0 1 "" nsv6319795 1 18258896 18260222 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054124 M 19652 0 1 "" nsv4517059 1 18259878 18260441 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850761 M 10847 0 1 "" esv3343287 1 18271095 18271106 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898721,essv8898716,essv8898715,essv8898720,essv8898719,essv8898724,essv8898723,essv8898717,essv8898722,essv8898713,essv8898718,essv8898726 M 185 12 0 "" NA18499,NA18504,NA18508,NA18510,NA18517,NA18870,NA18871,NA18909,NA19093,NA19099,NA19116,NA19129 esv3305133 1 18271096 18271097 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7753431,essv7761490,essv7749767,essv7740581,essv7756261,essv7744162,essv7758822,essv7740953,essv7741380,essv7759049,essv7760422,essv7758530 M 185 12 0 "" NA18499,NA18504,NA18508,NA18510,NA18517,NA18870,NA18871,NA18909,NA19093,NA19099,NA19116,NA19129 nsv5616403 1 18271100 18271100 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061411 M 35 1 0 "" HG03125 nsv4535788 1 18271100 18271101 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028464 M 10847 1 0 "" nsv5683587 1 18271115 18271115 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17178757,nssv17205667 M 3202 2 0 "" nsv5408000 1 18271115 18271166 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899233 M 3202 1 0 "" nsv6045612 1 18272605 18272605 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531413 M 405 1 0 "" nsv3226974 1 18281686 18283239 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14274701 M 9 1 0 "" HG00732 nsv834313 1 18281915 18489101 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443807,nssv1443818,nssv1443829 M 95 0 3 IGSF21 nsv4516904 1 18282849 18282905 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850762 M 10847 0 1 "" nsv6329930 1 18287460 18288017 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18053987 M 19652 0 1 "" nsv4460087 1 18287675 18287676 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028257 M 10847 1 0 "" nsv5724721 1 18301213 18301213 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17247696 M 3202 1 0 "" nsv5561364 1 18301213 18301264 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899234 M 3202 1 0 "" nsv6325149 1 18308018 18308488 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054552 M 19652 0 1 "" nsv508969 1 18312667 18378631 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619778,nssv623776 M 4 2 0 "" NA10860,NA18994 nsv5685927 1 18313866 18313866 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17179542 M 3202 1 0 "" nsv5407953 1 18313866 18313917 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899235 M 3202 1 0 "" nsv5982197 1 18316467 18316566 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519121 M 405 0 1 "" nsv5688832 1 18319369 18319369 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17177365,nssv17205668 M 3202 2 0 "" nsv5401564 1 18319369 18319420 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899237 M 3202 1 0 "" nsv6330938 1 18319905 18325553 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054555 M 19652 0 1 "" nsv4052012 1 18320354 18323325 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850763 M 10847 0 1 "" esv3305695 1 18331446 18331447 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7741374,essv7744658 M 185 2 0 "" NA18871,NA19190 esv3431824 1 18331467 18331527 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898728,essv8898727 M 185 2 0 "" NA18871,NA19190 nsv4537035 1 18331489 18331490 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028268 M 10847 1 0 "" nsv5689396 1 18331503 18331503 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205669,nssv17178880 M 3202 2 0 "" nsv5409607 1 18331503 18331554 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899239 M 3202 1 0 "" nsv5415803 1 18333736 18333815 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899240 M 3202 1 0 "" nsv4038479 1 18337059 18338038 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850764 M 10847 0 1 "" nsv6324289 1 18337103 18338506 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054566 M 19652 0 1 "" nsv6054756 1 18338703 18338703 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520525 M 405 1 0 "" nsv5950576 1 18338704 18338704 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350703 M 914 1 0 "" nsv478978 1 18340474 18340474 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012826 M 9 0 0 "" nsv1014415 1 18346710 18373739 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700295 M 11257 0 1 "" nsv521926 1 18348784 18412381 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694696 M 2026 0 1 "" nsv6324611 1 18356488 18360090 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054571 M 19652 0 1 "" nsv3218780 1 18364826 18395650 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260416,nssv14260418,nssv14260420,nssv14260414,nssv14260415,nssv14261397,nssv14260419,nssv14260417,nssv14260421 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv3537487 1 18365537 18365537 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14412757 M 9 1 0 "" HG00514 esv3663354 1 18365877 18365877 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486222 M 20 1 0 "" nsv4039344 1 18366231 18561218 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963834 M 10847 1 0 IGSF21 nsv5882041 1 18368229 18368980 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353480 M 914 0 1 "" nsv4518351 1 18368235 18368981 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850766 M 10847 0 1 "" nsv5426770 1 18368235 18368981 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899243 M 3202 0 1 "" nsv6329251 1 18368235 18368981 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054582 M 19652 0 1 "" nsv526833 1 18374940 18377790 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703190 M 2026 0 1 "" nsv5981727 1 18375917 18376493 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17533105 M 405 1 0 "" nsv3537348 1 18375962 18375962 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438782 M 9 1 0 "" HG00733 nsv3205168 1 18375962 18376462 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14354303,nssv14354302,nssv14354305,nssv14354304,nssv14354306,nssv14354307 M 9 6 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733 nsv6321845 1 18376010 18376575 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201719 M 19652 1 0 "" nsv6138104 1 18376041 18376098 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899244 M 3202 1 0 "" nsv6138544 1 18376054 18376132 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899245 M 3202 1 0 "" nsv3952633 1 18376131 18376131 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192590 M 1 1 0 "" HG002 nsv6046872 1 18376131 18376131 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527688 M 405 1 0 "" nsv5424244 1 18376131 18376495 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899248 M 3202 1 0 "" dgv129n152 1 18376131 18380566 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3176641,nsv3185728 M 9 0 0 "" HG00733,NA19240 nsv2801080 1 18376132 18376132 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683018 M 2 1 0 "" nsv3320973 1 18376132 18376132 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488115,nssv14484716,nssv14487997,nssv14476791,nssv14472956,nssv14489790,nssv14478438,nssv14490917,nssv14481734,nssv14473036,nssv14482206,nssv14486955,nssv14482889 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv4444725 1 18376134 18376134 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15760627 M 1 1 0 "" nsv6054702 1 18376143 18376143 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525367 M 405 1 0 "" nsv2800932 1 18376178 18376178 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13695544 M 2 1 0 "" nsv5615755 1 18376185 18376185 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061430 M 35 1 0 "" HG00731 nsv3536926 1 18376199 18376199 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379860 M 9 1 0 "" NA19240 nsv3540526 1 18376218 18376218 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438784 M 9 1 0 "" HG00733 nsv3064035 1 18376236 18376236 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033976 M 2 1 0 "" NA12878 nsv3535263 1 18376238 18376238 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438785,nssv14388675 M 9 2 0 "" HG00733,NA19240 nsv2801081 1 18376258 18376258 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686543 M 2 1 0 "" nsv3320974 1 18376258 18376258 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476152,nssv14487705,nssv14477363,nssv14472452,nssv14474395,nssv14478806,nssv14479601,nssv14488041,nssv14474683,nssv14488456,nssv14486108,nssv14483973 M 14 12 0 "" CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3533271 1 18376262 18376262 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438786 M 9 1 0 "" HG00733 nsv5624196 1 18376262 18376262 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061432,nssv17061431 M 35 2 0 "" HG00732,NA12878 nsv2800835 1 18376263 18376263 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689295 M 2 1 0 "" nsv3321201 1 18376263 18376263 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486479,nssv14480310,nssv14474197,nssv14483381,nssv14485714,nssv14489725,nssv14474510,nssv14476463,nssv14477646 M 14 9 0 "" CHM1,HG00268,HG00514,HG01352,HG02106,HG02818,HX1,NA12878,NA19434 nsv1146215 1 18376312 18376393 CNV insertion John_et_al_2014 26484159 Sequencing nssv3999419 M 1 1 0 "" KWB1 nsv1076756 1 18376317 18376383 CNV insertion Thareja_et_al_2015 25765185 Sequencing nssv3770793 M 1 1 0 "" KWP1 nsv5604663 1 18376331 18376331 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061434,nssv17061433 M 35 2 0 "" HG00731,NA24385 nsv3536748 1 18376371 18376371 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438787 M 9 1 0 "" HG00733 nsv6048635 1 18376410 18376410 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523107 M 405 1 0 "" nsv6049746 1 18376414 18376414 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518434 M 405 1 0 "" nsv3321202 1 18376419 18376419 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474418,nssv14489472,nssv14481735,nssv14484430 M 14 4 0 "" HG00268,HG00733,HG02059,HX1 nsv3533927 1 18376433 18376433 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376322 M 9 1 0 "" NA19240 nsv2800933 1 18376434 18376434 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13710635 M 2 1 0 "" nsv3320975 1 18376434 18376434 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491794,nssv14487588,nssv14482383,nssv14482506,nssv14487078,nssv14490951,nssv14484499,nssv14476393,nssv14486205,nssv14474403,nssv14490109 M 14 11 0 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02059,HG02818,HX1,NA12878,NA19240,NA19434 nsv3053497 1 18376457 18376457 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029588 M 2 1 0 "" NA12878 nsv3531669 1 18376460 18376460 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438788 M 9 1 0 "" HG00733 nsv3541278 1 18376470 18376470 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438789 M 9 1 0 "" HG00733 nsv4039816 1 18387915 18396149 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850767 M 10847 0 1 "" esv3585382 1 18391523 18394844 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876434 M 2504 0 1 "" HG01956 nsv5418360 1 18391562 18394858 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899249 M 3202 0 1 "" nsv4046996 1 18401366 18401574 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850768 M 10847 0 1 "" nsv954883 1 18404001 18408000 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003145 M 1 0 1 "" BILGI_BIOE nsv5688742 1 18405052 18405052 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17180586 M 3202 1 0 "" nsv5404302 1 18405052 18405103 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899251 M 3202 1 0 "" nsv5887036 1 18414322 18414378 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363981 M 914 0 1 "" nsv5981728 1 18414323 18414382 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532963 M 405 0 1 "" nsv475223 1 18415428 18415428 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015205 M 9 1 0 "" NA19240 nsv4459626 1 18419224 18419225 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028287 M 10847 1 0 "" dgv177n54 1 18420144 18443992 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545711,nsv545712 M 17421 0 2 IGSF21 nsv6047567 1 18423936 18423936 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534644 M 405 1 0 "" nsv5620056 1 18424207 18424207 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061806 M 35 1 0 "" HG03009 nsv4517516 1 18427702 18427847 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963835 M 10847 1 0 "" esv3663362 1 18427762 18427762 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486230 M 20 1 0 "" esv3682007 1 18430393 18430458 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467272 M 20 0 1 "" nsv1144358 1 18430501 18430556 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995110 M 2 0 1 "" KWS1 nsv5960175 1 18432794 18432794 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354858 M 914 1 0 "" nsv954894 1 18434001 18437500 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003146 M 1 0 1 IGSF21 BILGI_BIOE nsv1142750 1 18434100 18434700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994249 M 2 0 1 IGSF21 KWS1 nsv1075264 1 18434199 18434700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764671 M 1 0 1 IGSF21 KWP1 nsv5430293 1 18435314 18435387 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899253 M 3202 0 1 IGSF21 nsv6329114 1 18438171 18448081 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054618 M 19652 0 1 IGSF21 nsv4572225 1 18463583 18463584 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028306 M 10847 1 0 IGSF21 nsv4459629 1 18466419 18466420 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028317 M 10847 1 0 IGSF21 nsv5682968 1 18486716 18486716 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205670 M 3202 1 0 IGSF21 nsv5413381 1 18486716 18486767 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899255 M 3202 1 0 IGSF21 nsv4459749 1 18492696 18492697 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028328 M 10847 1 0 IGSF21 nsv4459478 1 18498167 18498168 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028339 M 10847 1 0 IGSF21 nsv5680802 1 18498178 18498178 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17180614 M 3202 1 0 IGSF21 nsv5397993 1 18498178 18498229 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899256 M 3202 1 0 IGSF21 nsv5576159 1 18499822 18501652 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061828 M 35 0 1 IGSF21 NA20847 nsv5420406 1 18499824 18501653 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899257 M 3202 0 1 IGSF21 nsv834324 1 18500907 18681334 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443840 M 95 1 0 IGSF21 nsv4283194 1 18501546 18501547 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028348 M 10847 1 0 IGSF21 nsv3186892 1 18502554 18502769 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413777 M 9 0 0 IGSF21 HG00514 nsv4409 1 18506997 18540366 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8323 M 9 1 0 IGSF21 NA12156 nsv4042409 1 18522645 18525037 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850769 M 10847 0 1 IGSF21 nsv4044628 1 18525472 18526675 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850770 M 10847 0 1 IGSF21 nsv6321588 1 18525472 18526675 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054655 M 19652 0 1 IGSF21 nsv4050488 1 18526478 18528212 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850771 M 10847 0 1 IGSF21 nsv6321664 1 18526478 18528212 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054656 M 19652 0 1 IGSF21 nsv4039263 1 18527621 18553404 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963836 M 10847 1 0 IGSF21 nsv6052741 1 18534870 18534870 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522669 M 405 1 0 IGSF21 nsv4044933 1 18541538 18544766 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963838 M 10847 1 0 IGSF21 nsv6318574 1 18541554 18544758 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201738 M 19652 1 0 IGSF21 nsv5828767 1 18543150 18550869 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452555 M 914 0 0 IGSF21 nsv5869195 1 18543182 18550968 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365303 M 914 0 1 IGSF21 nsv460684 1 18543784 18557745 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537223 M 1557 0 1 IGSF21 HGDP00554 nsv545713 1 18543784 18557745 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173789 M 17421 0 1 IGSF21 HGDP00554 nsv6318837 1 18554665 18559176 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054666 M 19652 0 1 IGSF21 nsv4036660 1 18557862 18559880 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850772 M 10847 0 1 IGSF21 nsv5418989 1 18557862 18559880 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899282 M 3202 0 1 IGSF21 nsv6320496 1 18557862 18559880 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054669 M 19652 0 1 IGSF21 esv3585384 1 18560199 18563490 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876437 M 2504 0 1 IGSF21 HG01796 nsv5414649 1 18560373 18563663 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899304 M 3202 0 1 IGSF21 nsv4520 1 18561919 18597077 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3912 M 9 1 0 IGSF21 NA12878 nsv4046199 1 18567624 18570564 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850773 M 10847 0 1 IGSF21 nsv6330378 1 18567624 18570564 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054671 M 19652 0 1 IGSF21 nsv478816 1 18568237 18568237 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012525 M 9 1 0 IGSF21 NA18507 nsv4044040 1 18570473 18573256 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963839 M 10847 1 0 IGSF21 nsv5428011 1 18570473 18573256 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899305 M 3202 1 0 IGSF21 nsv6328409 1 18574881 18575325 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054673 M 19652 0 1 IGSF21 nsv545714 1 18576713 18632368 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711243 M 17421 0 1 IGSF21 dgv20e212 1 18576938 18601898 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577754,esv3577755 M 873 0 2 IGSF21 400261RN,401628GC nsv4046238 1 18577079 18602735 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850774 M 10847 0 1 IGSF21 nsv6321848 1 18577095 18602694 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054674 M 19652 0 1 IGSF21 dgv130n100 1 18577110 18601898 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011048,nsv1011251 M 11257 0 8 IGSF21 nsv528445 1 18579038 18600824 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705040 M 2026 0 1 IGSF21 nsv5610199 1 18580805 18580805 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061947 M 35 1 0 IGSF21 HG03065 nsv5884480 1 18580805 18580903 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17360270 M 914 1 0 IGSF21 nsv5429898 1 18580805 18580920 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899306 M 3202 1 0 IGSF21 nsv6045179 1 18580869 18580869 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534527 M 405 1 0 IGSF21 nsv1154655 1 18585302 18623183 CNV duplication Lou_et_al_2014 25026903 SNP array nssv4007068 M 131 1 0 IGSF21 nsv4743175 1 18599825 18599896 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16284800 M 25 0 1 IGSF21 nsv3320987 1 18599898 18600007 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477521 M 14 0 1 IGSF21 NA12878 nsv4449309 1 18599939 18599993 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15759991 M 1 0 1 IGSF21 nsv5981874 1 18599939 18599997 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520126 M 405 0 1 IGSF21 nsv3942039 1 18599957 18600013 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181074 M 1 0 1 IGSF21 HG002 nsv5570648 1 18599957 18600013 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061952 M 35 0 1 IGSF21 HG00732 esv3665902 1 18599957 18600041 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488515 M 20 0 0 IGSF21 nsv3197810 1 18599960 18600016 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14354166 M 9 0 1 IGSF21 HG00732 nsv4049346 1 18600688 18609642 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850775 M 10847 0 1 IGSF21 nsv6323059 1 18600688 18609642 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054375 M 19652 0 1 IGSF21 nsv6329379 1 18601595 18602594 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054376 M 19652 0 1 IGSF21 nsv5880052 1 18604973 18605287 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363774 M 914 0 1 IGSF21 esv3663380 1 18607617 18607617 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486246 M 20 1 0 IGSF21 nsv3531816 1 18607617 18607617 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438790,nssv14354650,nssv14354651,nssv14354652 M 9 3 0 IGSF21 HG00732,HG00733,NA19239 nsv3933879 1 18607617 18607617 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192591 M 1 1 0 IGSF21 HG002 nsv4444789 1 18607617 18607617 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757698 M 1 1 0 IGSF21 nsv5608523 1 18607617 18607617 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061956 M 35 1 0 IGSF21 HG00732 nsv5951756 1 18607617 18607617 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361640 M 914 1 0 IGSF21 nsv4533118 1 18607617 18607618 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028365 M 10847 1 0 IGSF21 nsv2800844 1 18607618 18607618 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693789 M 2 1 0 IGSF21 nsv3320988 1 18607618 18607618 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488925 M 14 1 0 IGSF21 CHM13 nsv6054611 1 18607626 18607626 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531159 M 405 1 0 IGSF21 nsv4763507 1 18607634 18607634 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16287369 M 25 1 0 IGSF21 nsv5541641 1 18607637 18607668 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899309 M 3202 1 0 IGSF21 nsv6256657 1 18610353 18610353 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856501 M 1021 1 0 IGSF21 nsv4459753 1 18611374 18611375 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028376 M 10847 1 0 IGSF21 nsv5685115 1 18611388 18611388 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205671,nssv17179906 M 3202 2 0 IGSF21 nsv6256694 1 18611388 18611388 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856512 M 1021 1 0 IGSF21 nsv5412183 1 18611388 18611439 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899311 M 3202 1 0 IGSF21 nsv5949822 1 18613688 18613688 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353628 M 914 1 0 IGSF21 esv3585386 1 18625434 18662672 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9876444 M 2504 0 1 IGSF21 HG01464 nsv5415988 1 18625713 18748712 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899313 M 3202 0 1 IGSF21 nsv834336 1 18626853 18813200 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443852 M 95 0 1 IGSF21,KLHDC7A nsv4631 1 18629501 18662260 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6396 M 9 1 0 IGSF21 NA12156 nsv4046601 1 18631753 18631895 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850777 M 10847 0 1 IGSF21 nsv5418305 1 18631753 18631895 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899314 M 3202 0 1 IGSF21 nsv5981802 1 18631753 18631913 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527703 M 405 0 1 IGSF21 nsv5878814 1 18631894 18632001 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356653 M 914 0 1 IGSF21 nsv5961561 1 18632007 18632007 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358597 M 914 1 0 IGSF21 dgv31n166 1 18639635 18642757 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4040268,nsv4049433 M 10847 0 2 IGSF21 nsv6325839 1 18639739 18642757 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054688 M 19652 0 1 IGSF21 nsv1137738 1 18642236 18642327 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990246 M 2 0 1 IGSF21 KWS2 nsv4051982 1 18644458 18698075 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963840 M 10847 1 0 IGSF21 nsv5575745 1 18646015 18646068 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061972 M 35 0 1 IGSF21 HG03065 nsv5879764 1 18646015 18646068 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353648 M 914 0 1 IGSF21 nsv4034305 1 18646018 18646069 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850780 M 10847 0 1 IGSF21 nsv5430047 1 18646018 18646069 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899316 M 3202 0 1 IGSF21 nsv6332408 1 18650311 18650903 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054691 M 19652 0 1 IGSF21 nsv4745912 1 18657014 18657109 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270521 M 25 0 1 IGSF21 nsv1151366 1 18657072 18657155 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003929 M 1 0 1 IGSF21 KWB1 nsv5566135 1 18657078 18657173 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061973 M 35 0 1 IGSF21 HG00731 nsv5869361 1 18657078 18657173 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358297 M 914 0 1 IGSF21 dgv130n152 1 18657078 18657174 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3191957,nsv3280185 M 9 0 7 IGSF21 HG00512,HG00514,HG00731,HG00732,HG00733,NA19238,NA19240 nsv3928549 1 18657078 18657174 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181078 M 1 0 1 IGSF21 HG002 nsv5982028 1 18657078 18657174 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520378 M 405 0 1 IGSF21 esv3682107 1 18657078 18657175 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467281 M 20 0 1 IGSF21 esv994039 1 18657082 18657177 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3570521 M 3 0 1 IGSF21 HuRef nsv1114938 1 18657094 18657148 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975235 M 2 0 1 IGSF21 KWS1 nsv5418509 1 18658233 18658401 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899317 M 3202 1 0 IGSF21 nsv4561379 1 18658867 18658868 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028387 M 10847 1 0 IGSF21 nsv5884782 1 18669235 18670607 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350110 M 914 0 1 IGSF21 nsv545715 1 18672774 18730305 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711244 M 17421 0 1 IGSF21 nsv4036683 1 18674615 18674694 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850781 M 10847 0 1 IGSF21 nsv4043648 1 18674732 18680069 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850782 M 10847 0 1 IGSF21 nsv5422135 1 18678561 18682957 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899318 M 3202 0 1 IGSF21 nsv6323865 1 18678561 18682957 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054709 M 19652 0 1 IGSF21 nsv5415080 1 18680514 18680602 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899319 M 3202 0 1 IGSF21 nsv5570271 1 18681335 18681384 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061978 M 35 0 1 IGSF21 HG00731 nsv5873774 1 18681335 18681384 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366511 M 914 0 1 IGSF21 nsv1133820 1 18681335 18681385 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970144 M 2 0 1 IGSF21 KWS2 nsv2800846 1 18681336 18681385 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13703981 M 2 0 1 IGSF21 nsv3321406 1 18681336 18681385 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485350,nssv14486579,nssv14491679,nssv14476394,nssv14473809,nssv14487805,nssv14474609 M 14 0 7 IGSF21 CHM1,CHM13,HG01352,HG02059,HG02818,NA19240,NA19434 nsv3179728 1 18681336 18681386 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386735,nssv14440449 M 9 0 0 IGSF21 HG00733,NA19240 nsv5982103 1 18681340 18681391 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525889 M 405 0 1 IGSF21 nsv4743018 1 18681347 18681399 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16288710 M 25 0 1 IGSF21 nsv5606798 1 18685854 18685854 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061979 M 35 1 0 IGSF21 HG02011 nsv6050078 1 18685860 18685860 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524173 M 405 1 0 IGSF21 nsv4034946 1 18685895 18685996 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963841 M 10847 1 0 IGSF21 nsv5966734 1 18685976 18685976 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350803 M 914 1 0 IGSF21 nsv5981971 1 18689951 18690019 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534843 M 405 0 1 IGSF21 nsv475630 1 18697089 18697089 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016293 M 9 1 0 IGSF21 NA12878 nsv4743 1 18702595 18747810 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8453 M 9 0 1 IGSF21 NA12156 nsv6316100 1 18709979 18711172 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054724 M 19652 0 1 "" nsv5874856 1 18711411 18711540 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368742 M 914 0 1 "" esv2660755 1 18722396 18722729 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6325343 M 1151 0 1 "" NA19625 nsv4032554 1 18722396 18722729 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850783 M 10847 0 1 "" nsv5422652 1 18722396 18722729 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899322 M 3202 0 1 "" nsv6323436 1 18722396 18722729 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054397 M 19652 0 1 "" nsv6546971 1 18726828 18728351 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249518 M 19652 0 0 "" esv3663390 1 18726916 18726916 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486255 M 20 1 0 "" nsv4041836 1 18730303 18730521 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850784 M 10847 0 1 "" nsv5433799 1 18730303 18730521 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899323 M 3202 0 1 "" nsv5982030 1 18739993 18749509 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526709 M 405 0 1 "" nsv4045931 1 18745417 18745490 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963842 M 10847 1 0 "" nsv1119398 1 18747601 18747660 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3959840 M 2 1 0 "" KWS1 nsv545716 1 18759377 18774783 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711245 M 17421 0 1 "" nsv4459764 1 18766396 18766397 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028397 M 10847 1 0 "" nsv6328287 1 18778887 18779380 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054425 M 19652 0 1 "" nsv4517898 1 18786870 18786923 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963843 M 10847 1 0 "" nsv6138133 1 18786870 18786923 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899324 M 3202 1 0 "" nsv5604893 1 18789537 18789537 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061454 M 35 1 0 "" HG00731 nsv4533322 1 18790431 18790432 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028495 M 10847 1 0 "" esv3302487 1 18792533 18792611 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7731444,essv7731195 M 185 2 0 "" NA12878,NA12891 esv995072 1 18792538 18792538 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3567950 M 3 1 0 "" HuRef dgv54n106 1 18792539 18792605 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1110995,nsv1142051 M 2 2 0 "" KWS1,KWS2 nsv5430436 1 18792539 18792608 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899325 M 3202 1 0 "" nsv160887 1 18792540 18792540 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179465 M 24 "" nsv4766858 1 18792547 18792547 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16289409 M 25 1 0 "" esv3345928 1 18792547 18792623 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8670855,essv8670854 M 185 2 0 "" NA12878,NA12891 esv3663401 1 18792553 18792553 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486265 M 20 1 0 "" nsv3929831 1 18792553 18792553 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192595 M 1 1 0 "" HG002 nsv4444790 1 18792553 18792553 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766194 M 1 1 0 "" nsv5620964 1 18792553 18792553 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061455 M 35 1 0 "" HG00731 nsv6055947 1 18792553 18792553 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527990 M 405 1 0 "" nsv2801089 1 18792554 18792554 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13697650 M 2 1 0 "" nsv3321410 1 18792554 18792554 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482708,nssv14473149,nssv14489330,nssv14477220,nssv14483145,nssv14481608,nssv14477927,nssv14487275,nssv14487135,nssv14485047,nssv14472535,nssv14489238,nssv14483186 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240 dgv131n152 1 18792577 18792651 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3180535,nsv3180555,nsv3186495 M 9 0 0 "" HG00514,HG00733,NA19240 esv1135568 1 18792601 18792601 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4108538 M 2 1 0 "" HuRef nsv159998 1 18792609 18792609 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178576 M 24 "" nsv4037397 1 18794197 18794326 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963844 M 10847 1 0 "" esv3577756 1 18794612 18800247 CNV loss Uddin_et_al_2014 25503493 SNP array essv9802533 M 873 0 1 "" 401025SM nsv6329976 1 18794872 18799750 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054433 M 19652 0 1 "" nsv3525387 1 18799008 18799216 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14354745,nssv14354743,nssv14354741,nssv14354746,nssv14354744,nssv14354742 M 9 0 6 "" HG00512,HG00513,HG00514,HG00733,NA19239,NA19240 nsv545717 1 18799285 18818701 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711246 M 17421 0 1 KLHDC7A esv275146 1 18800247 18807117 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585623 M 1250 0 1 "" esv3670845 1 18800959 18800959 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492965 M 20 1 0 "" nsv6327977 1 18806308 19076460 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201766 M 19652 1 0 KLHDC7A,PAX7 nsv518311 1 18813026 18813445 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695742 M 2026 0 1 "" nsv4047407 1 18814361 19146509 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963846 M 10847 1 0 PAX7 nsv6328218 1 18815471 18816247 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054449 M 19652 0 1 "" nsv1006958 1 18816271 19072926 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3474041 M 11257 1 0 PAX7 nsv4038499 1 18818516 18818616 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850785 M 10847 0 1 "" nsv6316942 1 18826039 18829676 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054455 M 19652 0 1 "" nsv3209400 1 18829215 18829326 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14354784,nssv14354785 M 9 0 2 "" HG00512,HG00514 nsv3321412 1 18829303 18829366 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14474509 M 14 0 1 "" HG02818 nsv4733097 1 18829349 18829408 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268579 M 25 0 1 "" nsv5982109 1 18829351 18829412 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533537 M 405 0 1 "" nsv5564730 1 18829353 18829425 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061462 M 35 0 1 "" HG00731 nsv4045226 1 18829413 18829506 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850786 M 10847 0 1 "" nsv5612078 1 18829422 18829422 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061463 M 35 1 0 "" NA12878 nsv4536369 1 18829439 18829440 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028511 M 10847 1 0 "" nsv4536259 1 18829484 18829485 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028427,nssv16028438,nssv16028417 M 10847 3 0 "" nsv5878462 1 18829484 18829547 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17369215 M 914 1 0 "" nsv4516922 1 18829484 18829555 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963847 M 10847 1 0 "" nsv4459988 1 18829555 18829556 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029005 M 10847 1 0 "" nsv5416591 1 18830484 18839048 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899327 M 3202 0 1 "" nsv4048627 1 18831770 18831848 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850788 M 10847 0 1 "" nsv4459771 1 18834064 18834065 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029015 M 10847 1 0 "" nsv5677289 1 18837982 18837982 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17178446 M 3202 1 0 "" nsv4049395 1 18843756 18995909 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963848 M 10847 1 0 PAX7 nsv6320172 1 18844595 18846194 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054467 M 19652 0 1 "" nsv4459774 1 18846448 18846449 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029026 M 10847 1 0 "" nsv6322500 1 18864393 18864694 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054485 M 19652 0 1 "" nsv5570105 1 18866354 18866531 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061468 M 35 0 1 "" NA19238 nsv3321231 1 18866366 18866543 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473703 M 14 0 1 "" HG02818 nsv1149222 1 18866376 18866577 CNV deletion John_et_al_2014 26484159 Sequencing nssv4002730 M 1 0 1 "" KWB1 nsv6053955 1 18866426 18866426 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533390 M 405 1 0 "" nsv5539519 1 18866438 18866460 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899043 M 3202 1 0 "" nsv4854 1 18872931 18918581 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6404 M 9 0 1 "" NA12156 nsv460706 1 18893592 18908865 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537241 M 1557 0 1 "" HGDP01278 nsv545718 1 18893592 18908865 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173790 M 17421 0 1 "" HGDP01278 nsv5963710 1 18894665 18894665 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17365382 M 914 1 0 "" nsv4568283 1 18894665 18894666 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029035 M 10847 1 0 "" nsv5724779 1 18894681 18894681 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17244995,nssv17247209 M 3202 2 0 "" nsv5559257 1 18894681 18894732 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899046 M 3202 1 0 "" nsv4042263 1 18905050 18905194 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963849 M 10847 1 0 "" esv3663415 1 18905310 18905310 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486278 M 20 1 0 "" nsv5423407 1 18907125 18907177 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899048 M 3202 1 0 "" nsv6320723 1 18911444 18912971 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054533 M 19652 0 1 "" nsv4049331 1 18911445 18912971 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850789 M 10847 0 1 "" nsv5723096 1 18917784 18917784 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17234444 M 3202 1 0 "" esv3682262 1 18918482 18918620 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467295 M 20 0 1 "" nsv3954602 1 18924452 18924522 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181082 M 1 0 1 "" HG002 nsv4449310 1 18924452 18924522 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15756934 M 1 0 1 "" nsv3320798 1 18924456 18924524 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476990,nssv14475665 M 14 0 2 "" NA12878,NA19240 nsv5981977 1 18924463 18924532 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534195 M 405 0 1 "" nsv6052346 1 18924481 18924481 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519053 M 405 1 0 "" nsv5579754 1 18924490 18924703 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061483 M 35 0 1 "" HG03125 nsv5569724 1 18924522 18924591 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061484 M 35 0 1 "" NA19238 nsv3321416 1 18924523 18924592 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472632,nssv14476924 M 14 0 2 "" HG02818,NA19240 nsv6043103 1 18924555 18924555 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530082 M 405 1 0 "" nsv5981978 1 18924567 18924636 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519351 M 405 0 1 "" nsv6041057 1 18924593 18924593 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526768 M 405 1 0 "" esv1600907 1 18924634 18924704 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4315808 M 2 0 1 "" HuRef nsv3170654 1 18924634 18924704 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387033 M 9 0 0 "" NA19240 nsv5609608 1 18924639 18924639 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061485 M 35 1 0 "" HG01505 nsv3321417 1 18924662 18924737 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480048 M 14 0 1 "" NA12878 nsv6050983 1 18924680 18924680 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528001 M 405 1 0 "" nsv5617944 1 18924710 18924710 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061486 M 35 1 0 "" NA18939 nsv4739979 1 18924719 18924788 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16272625 M 25 0 1 "" nsv6042397 1 18924743 18924743 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527142 M 405 1 0 "" nsv4746475 1 18929027 18929108 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285164 M 25 0 1 "" nsv5981979 1 18929028 18929104 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523096 M 405 0 1 "" nsv5880062 1 18929077 18929139 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368518 M 914 0 1 "" nsv5982036 1 18929077 18929140 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522010 M 405 0 1 "" nsv3320799 1 18929100 18929150 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490739 M 14 0 1 "" NA19240 nsv5584349 1 18929105 18929184 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062532 M 35 0 1 "" NA19238 nsv5609513 1 18929193 18929193 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062533 M 35 1 0 "" NA19239 nsv3321234 1 18929220 18929220 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489602 M 14 1 0 "" NA19434 dgv132n152 1 18931217 18931369 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3208876,nsv3210219 M 9 0 2 "" HG00732,HG00733 nsv4734391 1 18931231 18931287 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16272030 M 25 0 1 "" nsv5982223 1 18931233 18931290 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525847 M 405 0 1 "" nsv5580217 1 18931343 18931418 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062534 M 35 0 1 "" HG00732 nsv3950551 1 18931343 18931419 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181083 M 1 0 1 "" HG002 esv3682306 1 18931343 18931435 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467299 M 20 0 1 "" nsv2800937 1 18931344 18931419 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13681592 M 2 0 1 "" nsv3321000 1 18931344 18931419 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487130,nssv14485263,nssv14472444,nssv14479198,nssv14481519,nssv14478953 M 14 0 6 "" CHM1,HG01352,HG02818,HG04217,NA19240,NA19434 nsv3281660 1 18931344 18931420 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14443801,nssv14373674 M 9 0 2 "" HG00733,NA19240 nsv5982112 1 18931399 18931499 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533980 M 405 0 1 "" nsv4965 1 18931812 18965386 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5358 M 9 1 0 PAX7 NA19129 nsv5543660 1 18933993 18934043 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899051 M 3202 1 0 "" nsv6334590 1 18936498 18939135 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054247 M 19652 0 1 "" nsv4536137 1 18937189 18937190 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029045 M 10847 1 0 "" nsv4046976 1 18940055 18940189 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963850 M 10847 1 0 "" nsv5873746 1 18940073 18940181 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17359360 M 914 1 0 "" nsv5430750 1 18940073 18940189 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899053 M 3202 1 0 "" nsv4039697 1 18940544 18949506 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966036 M 10847 1 0 "" nsv5414330 1 18949947 18950027 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899054 M 3202 1 0 "" nsv1008797 1 18955897 19004233 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3482266 M 11257 1 0 PAX7 esv3417922 1 18979683 18979691 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863678 M 185 1 0 PAX7 NA12005 nsv5076 1 18985602 19030274 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8574 M 9 0 1 PAX7 NA12156 nsv4518216 1 18989718 18990151 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850790 M 10847 0 1 PAX7 nsv5874755 1 18991910 18992204 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364582 M 914 0 1 PAX7 nsv4044154 1 18994399 18995389 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850791 M 10847 0 1 PAX7 nsv506920 1 18995478 19001478 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619225 M 4 0 0 PAX7 NA10860 esv3576471 1 18998988 19003799 CNV gain Uddin_et_al_2014 25503493 SNP array essv9802644 M 873 1 0 PAX7 401056TJ nsv6327011 1 19006562 19006830 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054311 M 19652 0 1 PAX7 nsv4037793 1 19009910 19010020 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850792 M 10847 0 1 PAX7 nsv5426649 1 19019132 19019206 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899055 M 3202 1 0 PAX7 nsv5871793 1 19052475 19052638 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353636 M 914 0 1 PAX7 esv2599950 1 19052489 19052640 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5276923 M 1 0 1 PAX7 NA18507 nsv5982117 1 19054838 19054895 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522416 M 405 0 1 PAX7 nsv4042364 1 19067080 19067145 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850793 M 10847 0 1 PAX7 nsv4751677 1 19070932 19070932 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16274451 M 25 1 0 PAX7 esv3670853 1 19070947 19070947 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492972 M 20 1 0 PAX7 nsv3561911 1 19070947 19070947 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14354840,nssv14354839 M 9 2 0 PAX7 HG00512,HG00513 nsv3951510 1 19070947 19070947 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192596 M 1 1 0 PAX7 HG002 nsv4444791 1 19070947 19070947 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757701 M 1 1 0 PAX7 nsv5623429 1 19070947 19070947 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061669 M 35 1 0 PAX7 HG00731 nsv6058664 1 19070947 19070947 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527537 M 405 1 0 PAX7 nsv4534431 1 19070947 19070948 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029054 M 10847 1 0 PAX7 nsv3053502 1 19070948 19070948 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14026800 M 2 1 0 PAX7 NA12878 nsv3321244 1 19070948 19070948 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475698,nssv14487285,nssv14484531,nssv14476753,nssv14473380,nssv14486674,nssv14472700 M 14 7 0 PAX7 HG00268,HG00514,HG02106,HX1,NA12878,NA19240,NA19434 nsv3538426 1 19070948 19070948 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413779,nssv14438793,nssv14382732 M 9 3 0 PAX7 HG00514,HG00733,NA19240 esv1070523 1 19070964 19070964 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4207695 M 2 1 0 PAX7 HuRef nsv5867658 1 19070991 19071148 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360527 M 914 0 1 PAX7 nsv5982039 1 19073488 19073695 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533687 M 405 0 1 PAX7 nsv4038200 1 19080965 19081339 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850794 M 10847 0 1 "" nsv5187 1 19082078 19126984 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8645 M 9 0 1 "" NA12156 nsv4534980 1 19084353 19084354 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029065 M 10847 1 0 "" nsv4533772 1 19084379 19084380 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029075 M 10847 1 0 "" nsv5544453 1 19084396 19084445 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899063 M 3202 1 0 "" nsv4034210 1 19098145 19098203 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850795 M 10847 0 1 "" nsv475087 1 19100711 19100711 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015109 M 9 1 0 "" NA18956 nsv5981986 1 19107902 19107972 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524128 M 405 0 1 "" nsv4042000 1 19109720 19117012 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848774 M 10847 0 1 "" nsv6321610 1 19109720 19117012 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054806 M 19652 0 1 "" nsv4045575 1 19111260 19112240 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848775 M 10847 0 1 "" nsv6319184 1 19111260 19112240 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054808 M 19652 0 1 "" nsv5982043 1 19112006 19112132 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525895 M 405 0 1 "" nsv4042806 1 19112008 19112131 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848776 M 10847 0 1 "" nsv5414936 1 19112008 19112131 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899064 M 3202 0 1 "" nsv4036184 1 19112115 19123585 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848777 M 10847 0 1 "" nsv5421783 1 19113500 19116118 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899065 M 3202 0 1 "" nsv6331795 1 19113622 19116118 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18054812 M 19652 0 1 "" nsv1075671 1 19114199 19114800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763365 M 1 0 1 "" KWP1 nsv5982044 1 19121658 19121710 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529149 M 405 0 1 "" nsv4517074 1 19127725 19127894 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966037 M 10847 1 0 "" nsv3321248 1 19127742 19127742 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488673 M 14 1 0 "" HG02106 nsv5882173 1 19127763 19127882 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17350914 M 914 1 0 "" nsv4752066 1 19127862 19127862 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16296292 M 25 1 0 "" nsv6043535 1 19127864 19127864 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527991 M 405 1 0 "" nsv5551880 1 19127894 19128426 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899066 M 3202 1 0 "" nsv1132286 1 19127900 19129400 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987055 M 2 1 0 "" KWS1 nsv5415834 1 19127960 19128160 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899067 M 3202 0 1 "" nsv4043018 1 19127995 19128477 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966038 M 10847 1 0 "" nsv5421650 1 19127995 19128505 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899068 M 3202 1 0 "" nsv6316015 1 19128023 19128521 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199145 M 19652 1 0 "" nsv4459522 1 19144793 19144794 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029085 M 10847 1 0 "" nsv5676532 1 19144809 19144809 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205672,nssv17180408 M 3202 2 0 "" nsv5398230 1 19144809 19144840 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899070 M 3202 1 0 "" esv3577757 1 19146433 19154065 CNV loss Uddin_et_al_2014 25503493 SNP array essv9803977,essv9803755,essv9802977,essv9803644,essv9803866,essv9803088,essv9803311,essv9802866,essv9803533,essv9803199,essv9803422,essv9802755 M 873 0 12 "" 400127MD,400295PS,400512LR,400897MD,401074CM,401403TD,401454CD,401493HC,401519SA,401576WC,401687LR,401908YM esv2589469 1 19151146 19152623 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5385528 M 1 0 1 "" NA18507 nsv4449311 1 19151719 19151986 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15768279 M 1 0 1 "" esv3876 1 19151751 19152405 CNV loss Wang_et_al_2008 18987735 Sequencing essv26317 M 1 0 1 "" YH nsv5567870 1 19151769 19152034 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061696 M 35 0 1 "" HG00731 nsv4746051 1 19151772 19152038 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273089 M 25 0 1 "" nsv3321252 1 19151783 19152048 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485798,nssv14483329,nssv14491881,nssv14483794,nssv14476339,nssv14490585 M 14 0 6 "" HG00268,HG02106,HX1,NA12878,NA19240,NA19434 dgv133n152 1 19151786 19152052 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282591,nsv3282049 M 9 0 2 "" HG00514,NA19240 nsv5982228 1 19151830 19152097 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522014 M 405 0 1 "" nsv3210143 1 19151841 19152261 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355509,nssv14355505,nssv14355503,nssv14355502,nssv14355508,nssv14355504,nssv14355510,nssv14355506,nssv14355507 M 9 0 9 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv3052478 1 19151867 19152131 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14029487 M 2 0 1 "" NA12878 nsv3934583 1 19151908 19152174 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181084 M 1 0 1 "" HG002 nsv3172560 1 19152128 19152349 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441653 M 9 0 0 "" HG00733 nsv2801097 1 19152136 19152356 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13707132 M 2 0 1 "" nsv3321253 1 19152136 19152356 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478727,nssv14486661,nssv14478646,nssv14486004,nssv14478877,nssv14483799,nssv14475912,nssv14484555,nssv14483292 M 14 0 9 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02818,HG04217 nsv4050113 1 19156343 19157834 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848778 M 10847 0 1 "" nsv4042756 1 19160259 19160401 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848779 M 10847 0 1 "" nsv5423125 1 19160259 19160401 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899071 M 3202 0 1 "" nsv4042432 1 19163950 19197040 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966039 M 10847 1 0 TAS1R2 nsv4459797 1 19179880 19179881 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029094 M 10847 1 0 TAS1R2 nsv4032896 1 19180510 19241409 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966040 M 10847 1 0 ALDH4A1,IFFO2,MIR4695,TAS1R2 nsv5872990 1 19181375 19182461 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17364370 M 914 1 0 TAS1R2 dgv59e59 1 19183765 19185463 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3451670,esv3403682,esv3348156 M 185 3 0 TAS1R2 NA19238,NA19239,NA19240 nsv4050587 1 19184818 19184967 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848780 M 10847 0 1 TAS1R2 nsv472669 1 19195202 19195202 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012363 M 9 1 0 "" NA18555 nsv4516937 1 19197488 19198729 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848781 M 10847 0 1 ALDH4A1 nsv545719 1 19200180 19208193 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711247 M 17421 0 1 ALDH4A1 nsv5622798 1 19204558 19204558 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062125 M 35 1 0 ALDH4A1 HG02587 nsv1075672 1 19208145 19208200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772344 M 1 0 1 ALDH4A1 KWP1 nsv5681319 1 19221380 19221380 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205673 M 3202 1 0 ALDH4A1 nsv479029 1 19224005 19224005 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011616 M 9 0 0 ALDH4A1 nsv6539820 1 19240537 19241112 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249591 M 19652 0 0 IFFO2 nsv834347 1 19242771 19468922 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443863 M 95 1 0 IFFO2,UBR4 nsv3214045 1 19249982 19255483 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260435,nssv14260433,nssv14260437,nssv14260432,nssv14260436,nssv14260434 M 9 6 0 IFFO2 HG00512,HG00513,HG00514,HG00731,HG00732,NA19238 nsv4039189 1 19252000 19267000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848782 M 10847 0 1 IFFO2 nsv4444792 1 19252242 19252242 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761982 M 1 1 0 IFFO2 nsv6047876 1 19252254 19252254 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534415 M 405 1 0 IFFO2 nsv3321433 1 19252282 19252282 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480992,nssv14487859,nssv14483628,nssv14475348,nssv14473306,nssv14479913,nssv14489232,nssv14490746,nssv14476274,nssv14484102 M 14 10 0 IFFO2 HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19434 esv3682397 1 19252284 19252496 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467307 M 20 0 1 IFFO2 nsv3058824 1 19252298 19252298 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14024228 M 2 1 0 IFFO2 CHM1 nsv4768194 1 19252299 19252299 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295747 M 25 1 0 IFFO2 nsv5982054 1 19252318 19252633 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17527141 M 405 1 0 IFFO2 nsv2800944 1 19252319 19252319 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689834 M 2 1 0 IFFO2 nsv3321016 1 19252319 19252319 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473447,nssv14478878,nssv14487974,nssv14484497,nssv14489914,nssv14476793,nssv14481750 M 14 7 0 IFFO2 CHM1,HG00268,HG02059,HG02818,HG04217,HX1,NA19240 nsv3542830 1 19252336 19252336 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413780 M 9 1 0 IFFO2 HG00514 nsv3925356 1 19252351 19252351 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192600 M 1 1 0 IFFO2 HG002 nsv5616498 1 19252351 19252351 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061837 M 35 1 0 IFFO2 HG00731 nsv6053621 1 19252351 19252351 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526542 M 405 1 0 IFFO2 nsv3320812 1 19252352 19252352 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485929,nssv14478392,nssv14483845,nssv14475528,nssv14481016,nssv14485756,nssv14487962,nssv14479830,nssv14474711,nssv14481506,nssv14485609 M 14 11 0 IFFO2 HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv2801100 1 19252368 19252368 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684522 M 2 1 0 IFFO2 nsv3321259 1 19252368 19252368 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483838,nssv14478143 M 14 2 0 IFFO2 CHM1,HG02059 nsv3530372 1 19252388 19252388 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413781,nssv14379209,nssv14438794 M 9 3 0 IFFO2 HG00514,HG00733,NA19240 nsv512722 1 19252421 19252907 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625347 M 1 1 0 IFFO2 1 nsv3539801 1 19252427 19252427 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383907 M 9 1 0 IFFO2 NA19240 nsv2801101 1 19252430 19252430 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693895 M 2 1 0 IFFO2 nsv3321434 1 19252430 19252430 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484664,nssv14478153,nssv14485305,nssv14487093,nssv14483801,nssv14486800,nssv14487781 M 14 7 0 IFFO2 CHM1,HG00268,HG02059,HG02818,HG04217,HX1,NA19240 nsv3320813 1 19252450 19252450 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472682,nssv14474827,nssv14479055,nssv14477830 M 14 4 0 IFFO2 HG00268,HG02059,HG02818,HX1 nsv3538448 1 19252474 19252474 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438795 M 9 1 0 IFFO2 HG00733 nsv3065723 1 19252496 19252496 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033856 M 2 1 0 IFFO2 CHM1 nsv3321435 1 19252516 19252516 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482194,nssv14474427,nssv14473180,nssv14485720,nssv14482487,nssv14483968,nssv14485446,nssv14477926,nssv14484272,nssv14476701,nssv14475643 M 14 11 0 IFFO2 CHM1,HG00268,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv3532641 1 19252527 19252527 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438796 M 9 1 0 IFFO2 HG00733 nsv3541375 1 19252535 19252535 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413783 M 9 1 0 IFFO2 HG00514 nsv3539348 1 19252568 19252568 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381458 M 9 1 0 IFFO2 NA19240 nsv2800853 1 19252569 19252569 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685514 M 2 1 0 IFFO2 nsv3535496 1 19252569 19252569 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438797 M 9 1 0 IFFO2 HG00733 nsv3056774 1 19252604 19252604 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14024842 M 2 1 0 IFFO2 CHM1 nsv4570063 1 19259309 19259310 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789069 M 10847 0 0 IFFO2 nsv4459527 1 19261262 19261263 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029102 M 10847 1 0 IFFO2 nsv4042392 1 19262353 19263823 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848784 M 10847 0 1 IFFO2 nsv1142751 1 19282400 19283000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994250 M 2 0 1 IFFO2 KWS1 nsv5614590 1 19296914 19296914 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062138 M 35 1 0 "" HG03371 nsv5959358 1 19308397 19308397 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360321 M 914 1 0 "" nsv3320817 1 19308548 19308681 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487297 M 14 0 1 "" HG02106 nsv5574916 1 19308601 19308662 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062144 M 35 0 1 "" HG02011 nsv4037402 1 19308602 19308663 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848785 M 10847 0 1 "" nsv5958775 1 19308606 19308606 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354303 M 914 1 0 "" nsv6551360 1 19316975 19317310 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249605 M 19652 0 0 "" esv26882 1 19326226 19328463 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16565 M 40 0 1 "" NA18858 nsv6042370 1 19326496 19326496 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530062 M 405 1 0 "" nsv2800210 1 19326532 19326532 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679830 M 2 1 0 "" nsv3321267 1 19326532 19326532 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472514 M 14 1 0 "" CHM1 nsv5615069 1 19326538 19326538 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062147 M 35 1 0 "" HG03683 nsv6318802 1 19343317 19351501 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199795 M 19652 1 0 "" nsv4047167 1 19343317 19351502 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966041 M 10847 1 0 "" nsv6322256 1 19344943 19347559 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055200 M 19652 0 1 "" esv3663452 1 19345139 19345139 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486310 M 20 1 0 "" nsv6332427 1 19349790 19358723 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055219 M 19652 0 1 "" nsv4045091 1 19352709 19352792 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848786 M 10847 0 1 "" nsv6318589 1 19354287 19393651 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055227 M 19652 0 1 "" esv21929 1 19355651 19359876 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16928 M 40 0 1 "" NA19257 nsv954898 1 19355901 19405100 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003147 M 1 0 1 UBR4 BILGI_BIOE nsv3320820 1 19357289 19357289 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485453 M 14 1 0 "" HG02106 nsv3321442 1 19357333 19357333 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481146 M 14 1 0 "" HG02106 nsv3321269 1 19357336 19357536 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472536 M 14 0 1 "" HG02106 nsv6256705 1 19357582 19357582 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17856536 M 1021 1 0 "" nsv1154670 1 19359945 19372086 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4007069 M 131 0 1 "" nsv3223730 1 19361127 19411339 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260489,nssv14260487,nssv14260490,nssv14260488 M 9 4 0 UBR4 HG00512,HG00513,HG00514,NA19238 esv3585390 1 19362152 19371531 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9878802,essv9878780,essv9878782,essv9878803,essv9878783,essv9878801,essv9878781,essv9878800,essv9878784,essv9878799,essv9878798,essv9878796,essv9878790,essv9878795,essv9878794,essv9878791,essv9878793,essv9878789,essv9878786,essv9878797,essv9878788,essv9878792,essv9878787,essv9878785 M 2504 0 24 "" HG02084,HG02733,HG02775,HG02778,HG03640,HG03644,HG03649,HG03740,HG03755,HG03781,HG03833,HG03885,HG03888,HG03890,HG03963,HG03989,HG04029,HG04098,HG04140,HG04194,NA20853,NA20903,NA21135,NA21144 nsv5870282 1 19362227 19371432 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350784 M 914 0 1 "" nsv4050470 1 19362229 19371433 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848787 M 10847 0 1 "" nsv5417071 1 19362229 19371433 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899076 M 3202 0 1 "" nsv5828470 1 19362716 19371474 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463193 M 914 0 0 "" nsv4569874 1 19363671 19363672 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029113 M 10847 1 0 "" nsv5298 1 19365375 19402608 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2867,nssv5363,nssv3923 M 9 3 0 UBR4 NA12878,NA18555,NA19129 nsv4040853 1 19366916 19367891 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848788 M 10847 0 1 "" nsv5867654 1 19367931 19368217 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358053 M 914 0 1 "" nsv508980 1 19368842 19424251 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621084 M 4 1 0 UBR4 NA15510 nsv5828699 1 19369475 19371274 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456888 M 914 0 0 "" nsv5879593 1 19369669 19369786 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359666 M 914 0 1 "" nsv4046140 1 19369671 19369787 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848789 M 10847 0 1 "" nsv5418532 1 19369671 19369787 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899078 M 3202 0 1 "" nsv5419971 1 19369859 19371100 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899079 M 3202 0 1 "" dgv24e199 1 19369872 19373219 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2665756,esv2660808 M 1151 0 1 "" HG00418 nsv5421550 1 19371133 19371446 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899080 M 3202 0 1 "" esv2661924 1 19371365 19373385 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5419973 M 1151 0 1 "" HG00418 nsv5430937 1 19371396 19373368 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899081 M 3202 0 1 "" nsv6320268 1 19375452 19395243 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199797 M 19652 1 0 "" nsv545720 1 19376028 19387070 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711248 M 17421 0 1 "" nsv545721 1 19382691 19387234 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711249,nssv711250,nssv711251 M 17421 1 2 "" nsv545722 1 19382691 19387342 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711252 M 17421 1 0 "" nsv545723 1 19382691 19394724 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711253 M 17421 1 0 "" nsv545724 1 19386358 19387234 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711255,nssv711254,nssv711257,nssv711261,nssv711256,nssv711260,nssv711258,nssv711259 M 17421 1 7 "" esv1963532 1 19386462 19386805 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4528609 M 1 0 1 "" NA18507 nsv1075270 1 19386499 19387300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765078 M 1 0 1 "" KWP1 nsv5879998 1 19386581 19386659 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369128 M 914 0 1 "" nsv3321443 1 19386592 19386592 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491064,nssv14491491 M 14 2 0 "" HG00514,HG01352 nsv6054213 1 19386598 19386598 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532976 M 405 1 0 "" esv2661885 1 19386609 19387143 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5641231,essv6335539,essv5687689,essv6130313,essv5469295,essv5618206,essv5854987,essv5433943 M 1151 0 8 "" NA18489,NA18498,NA18548,NA18856,NA18933,NA18959,NA19663,NA19920 nsv4040143 1 19386609 19387212 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966042 M 10847 1 0 "" nsv5982063 1 19386629 19386737 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524790 M 405 0 1 "" nsv3321270 1 19386632 19386713 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488047 M 14 0 1 "" NA19240 esv29322 1 19386662 19387372 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11291 M 40 0 2 "" NA12006,NA19225 nsv5580882 1 19386677 19387049 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062155 M 35 0 1 "" HG03371 nsv6041354 1 19386681 19386681 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529450 M 405 1 0 "" nsv545725 1 19386691 19387286 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711268,nssv711267,nssv711262,nssv711266,nssv711264,nssv711265,nssv711263 M 17421 0 7 "" dgv178n54 1 19386691 19387342 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545728,nsv545726 M 17421 14 0 "" nsv545727 1 19386691 19393033 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711282 M 17421 0 1 "" nsv5982064 1 19386710 19387001 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525553 M 405 0 1 "" nsv4759968 1 19386774 19386774 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16282477 M 25 1 0 "" nsv4742230 1 19386774 19387126 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16292905 M 25 1 0 "" esv3682486 1 19386806 19387057 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467315 M 20 0 1 "" nsv3541626 1 19386824 19386824 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381790 M 9 1 0 "" NA19240 nsv3941316 1 19386824 19386824 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192608 M 1 1 0 "" HG002 nsv5608780 1 19386824 19386824 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062157,nssv17062156,nssv17062158 M 35 2 0 "" HG00732,NA19238 nsv6045783 1 19386824 19386824 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520821 M 405 1 0 "" nsv2800212 1 19386824 19386904 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690156 M 2 0 1 "" nsv3321026 1 19386824 19386904 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477461,nssv14473796 M 14 0 2 "" CHM13,HG00268 nsv3320821 1 19386825 19386825 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488911,nssv14488404,nssv14474877 M 14 3 0 "" HG02059,NA19240,NA19434 nsv3320822 1 19386884 19386884 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478475,nssv14472840 M 14 2 0 "" HG01352,HG02059 nsv3178313 1 19386957 19387039 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14443463 M 9 0 0 "" HG00733 nsv3530496 1 19386960 19386960 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438798 M 9 1 0 "" HG00733 nsv5570715 1 19386961 19387085 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062159 M 35 0 1 "" HG00731 nsv3321027 1 19386962 19387085 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473924 M 14 0 1 "" HG00733 nsv2800213 1 19386973 19386973 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679893 M 2 1 0 "" nsv3320823 1 19386973 19386973 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479373,nssv14491743 M 14 2 0 "" CHM1,HG02059 nsv3183081 1 19387019 19387098 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413784 M 9 0 0 "" HG00514 nsv5982237 1 19387071 19387150 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529019 M 405 0 1 "" nsv3321444 1 19387074 19387074 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489891 M 14 1 0 "" HX1 nsv5617039 1 19387125 19387125 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062160 M 35 1 0 "" NA19238 nsv4037860 1 19387140 19387228 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966043 M 10847 1 0 "" nsv3534675 1 19387143 19387143 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413785 M 9 1 0 "" HG00514 nsv3212118 1 19387712 19411339 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261013,nssv14261015,nssv14261010,nssv14261014,nssv14261012,nssv14261011 M 9 6 0 UBR4 HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv3203125 1 19387712 19467323 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14256554 M 9 0 1 UBR4 HG00731 nsv512723 1 19387799 19387917 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625348 M 1 1 0 "" 1 nsv3056084 1 19387807 19387807 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025023 M 2 1 0 "" NA12878 nsv5982128 1 19387813 19388042 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17527286 M 405 1 0 "" nsv5548004 1 19387870 19387914 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899084 M 3202 1 0 "" nsv3051639 1 19387875 19387875 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14022147 M 2 1 0 "" NA12878 nsv3536375 1 19387900 19387900 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413786 M 9 1 0 "" HG00514 nsv3537994 1 19387905 19387905 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438799 M 9 1 0 "" HG00733 nsv2800855 1 19387907 19387907 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694546 M 2 1 0 "" nsv3532721 1 19387911 19387911 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387926,nssv14413787 M 9 2 0 "" HG00514,NA19240 nsv3951762 1 19387911 19387911 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192616,nssv15192623 M 1 1 0 "" HG002 nsv5617479 1 19387911 19387911 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062162,nssv17062161 M 35 1 0 "" HG00731 nsv6052963 1 19387911 19387911 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532406 M 405 1 0 "" nsv2801105 1 19387912 19387912 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677263 M 2 1 0 "" nsv3321028 1 19387912 19387912 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486404,nssv14477271,nssv14485442,nssv14479414,nssv14483118,nssv14485805,nssv14490801,nssv14483578,nssv14474712,nssv14479510,nssv14480471 M 14 11 0 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG04217,HX1,NA19240,NA19434 nsv3060771 1 19387913 19387913 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14024495 M 2 1 0 "" CHM1 nsv4536994 1 19387914 19387915 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029125 M 10847 1 0 "" nsv5608885 1 19398896 19398896 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062165 M 35 1 0 "" HG03371 nsv5429799 1 19405653 19405732 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899087 M 3202 0 1 UBR4 nsv4034594 1 19418919 19418983 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848790 M 10847 0 1 UBR4 nsv5430373 1 19418919 19418983 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899088 M 3202 0 1 UBR4 nsv4459814 1 19431337 19431338 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025892 M 10847 1 0 UBR4 nsv6320963 1 19438182 19518510 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199809 M 19652 1 0 UBR4 nsv6047905 1 19440746 19440746 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528736 M 405 1 0 UBR4 nsv5951839 1 19445086 19445086 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17364102 M 914 1 0 UBR4 nsv4537496 1 19445086 19445087 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029141 M 10847 1 0 UBR4 nsv5543007 1 19445100 19445137 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899090 M 3202 1 0 UBR4 nsv4048269 1 19456506 19462396 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848791 M 10847 0 1 UBR4 nsv6326094 1 19456506 19462396 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055453 M 19652 0 1 UBR4 nsv4051111 1 19458386 19458443 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848792 M 10847 0 1 UBR4 nsv3535154 1 19459098 19459098 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438800 M 9 1 0 UBR4 HG00733 nsv3561916 1 19459099 19459099 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355549,nssv14355547,nssv14355548 M 9 3 0 UBR4 HG00731,HG00732,HG00733 nsv5677588 1 19459119 19459119 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17178525,nssv17205674 M 3202 2 0 UBR4 nsv477004 1 19469711 19469711 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015931 M 9 1 0 UBR4 NA12878 nsv4047712 1 19469766 19469878 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966044 M 10847 1 0 UBR4 nsv947415 1 19477173 19479879 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2761244 M 97 1 0 UBR4 HGDP00665 nsv4764573 1 19486386 19486386 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16291845 M 25 1 0 UBR4 nsv5949126 1 19486389 19486389 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366175 M 914 1 0 UBR4 nsv6042235 1 19486389 19486389 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526180 M 405 1 0 UBR4 nsv4460038 1 19486389 19486390 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029152 M 10847 1 0 UBR4 nsv5693177 1 19486405 19486405 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17180415,nssv17205676 M 3202 2 0 UBR4 nsv6256716 1 19486405 19486405 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857315 M 1021 1 0 UBR4 nsv5401711 1 19486405 19486456 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899093 M 3202 1 0 UBR4 nsv5956993 1 19501813 19501813 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358448 M 914 1 0 UBR4 nsv4459819 1 19503743 19503744 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029162 M 10847 1 0 UBR4 nsv4281813 1 19513443 19513444 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029172 M 10847 1 0 UBR4 nsv5869137 1 19515631 19515735 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358256 M 914 0 1 UBR4 nsv4037614 1 19515631 19515736 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848793 M 10847 0 1 UBR4 nsv5420517 1 19515631 19515736 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899097 M 3202 0 1 UBR4 nsv5951290 1 19516806 19516806 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358032 M 914 1 0 UBR4 nsv4460044 1 19532460 19532461 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029183 M 10847 1 0 UBR4 nsv5828796 1 19539082 19561252 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455797 M 914 0 0 EMC1 nsv5877582 1 19539262 19602657 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17361970 M 914 1 0 AKR7L,EMC1,MRTO4 nsv470702 1 19542931 19579969 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547715 M 443 1 0 EMC1,MRTO4 HGDP01179 nsv471971 1 19550194 19550194 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018521 M 9 1 0 EMC1 NA18555 esv3663465 1 19553240 19553240 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486321 M 20 1 0 EMC1 nsv4034489 1 19555303 19556789 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848794 M 10847 0 1 EMC1 nsv5677606 1 19555780 19555780 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17180089 M 3202 1 0 EMC1 nsv5428180 1 19582213 19582359 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899099 M 3202 1 0 MRTO4 nsv5982136 1 19587093 19587636 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535154 M 405 0 1 "" nsv6553871 1 19590731 19591256 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250234 M 19652 0 0 "" esv3552788 1 19592981 19611846 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9751535 M 767 0 1 AKR7A3,AKR7L nsv945806 1 19593747 19598763 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755051,nssv1755117,nssv1755045,nssv1755087,nssv1755128,nssv1755139,nssv1755044,nssv1755084,nssv1755043,nssv1755119,nssv1755052,nssv1755109,nssv1755127,nssv1755102,nssv1755078,nssv1755136,nssv1755065,nssv1755133,nssv1755057,nssv1755088,nssv1755064,nssv1755080,nssv1755077,nssv1755103,nssv1755060,nssv1755130,nssv1755126,nssv1755132,nssv1755075,nssv1755099,nssv1755072,nssv1755110,nssv1755079,nssv1755094,nssv1755059,nssv1755092,nssv1755055,nssv1755095,nssv1755123,nssv1755118,nssv1755062,nssv1755115,nssv1755046,nssv1755096,nssv1755050,nssv1755111,nssv1755069,nssv1755097,nssv1755061,nssv1755083,nssv1755070,nssv1755081,nssv1755068,nssv1755116,nssv1755056,nssv1755086,nssv1755053,nssv1755114,nssv1755042,nssv1755089,nssv1755125,nssv1755098,nssv1755049,nssv1755138,nssv1755076,nssv1755108,nssv1755058,nssv1755137,nssv1755067,nssv1755091,nssv1755073,nssv1755101,nssv1755121,nssv1755105,nssv1755129,nssv1755134,nssv1755124,nssv1755112,nssv1755054,nssv1755085,nssv1755120,nssv1755106,nssv1755048,nssv1755090,nssv1755122,nssv1755082,nssv1755047,nssv1755131,nssv1755066,nssv1755135,nssv1755071,nssv1755100,nssv1755063,nssv1755104,nssv1755074,nssv1755113,nssv1755107 M 97 10 0 AKR7L HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5828939 1 19593990 19600342 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450292,nssv17459349 M 914 0 0 AKR7L dgv25e199 1 19596585 19614159 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2663537,esv2659057 M 1151 0 23 AKR7A3,AKR7L HG00253,HG00320,HG00422,HG00543,HG00637,HG00693,HG01107,HG01441,NA10851,NA11930,NA18523,NA19072,NA19213,NA19235,NA19374,NA19445,NA19452,NA19461,NA19704,NA19755,NA19834,NA20340,NA20344 nsv4034194 1 19598101 19607125 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848795 M 10847 0 1 AKR7L nsv6334038 1 19598121 19607125 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055524 M 19652 0 1 AKR7L nsv5828491 1 19599293 19603423 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466344,nssv17464383 M 914 0 0 AKR7L nsv5828802 1 19599343 19609484 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463378 M 914 0 0 AKR7A3,AKR7L esv3585392 1 19599364 19614236 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9878941,essv9878890,essv9878886,essv9878937,essv9878887,essv9878942,essv9878891,essv9878936,essv9878888,essv9878940,essv9878892,essv9878938,essv9878889,essv9878935,essv9878896,essv9878943,essv9878895,essv9878934,essv9878894,essv9878939,essv9878893,essv9878930,essv9878914,essv9878918,essv9878903,essv9878923,essv9878900,essv9878926,essv9878913,essv9878928,essv9878897,essv9878920,essv9878915,essv9878929,essv9878902,essv9878933,essv9878912,essv9878919,essv9878906,essv9878921,essv9878910,essv9878922,essv9878901,essv9878917,essv9878899,essv9878931,essv9878907,essv9878925,essv9878898,essv9878927,essv9878908,essv9878924,essv9878905,essv9878932,essv9878904,essv9878911,essv9878909,essv9878916 M 2504 0 58 AKR7A3,AKR7L HG01107,HG01882,HG01956,HG01985,HG02307,HG02343,HG02427,HG02429,HG02455,HG02461,HG02476,HG02549,HG02666,HG02721,HG02768,HG02772,HG02798,HG02814,HG02974,HG03040,HG03103,HG03139,HG03162,HG03175,HG03202,HG03297,HG03303,HG03343,HG03428,HG03439,HG03473,NA18523,NA18624,NA18858,NA18876,NA18879,NA19042,NA19096,NA19113,NA19117,NA19137,NA19144,NA19204,NA19209,NA19213,NA19222,NA19235,NA19307,NA19374,NA19403,NA19404,NA19445,NA19452,NA19461,NA19704,NA19834,NA19917,NA20340 nsv6138999 1 19599609 19614168 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899100 M 3202 0 1 AKR7A3,AKR7L nsv5885837 1 19599630 19614211 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360446 M 914 0 1 AKR7A3,AKR7L esv26443 1 19599632 19614527 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11560 M 40 0 2 AKR7A3,AKR7L NA18523,NA18858 nsv4050659 1 19599650 19614166 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848796 M 10847 0 1 AKR7A3,AKR7L nsv5963944 1 19601393 19601393 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358412 M 914 1 0 "" nsv473677 1 19603019 19603019 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010781 M 9 1 0 "" NA19129 nsv4040912 1 19606467 19625111 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848797 M 10847 0 1 AKR7A3,LOC100506730 nsv3201031 1 19607593 19608067 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355598,nssv14355599 M 9 0 2 "" NA19239,NA19240 nsv5828805 1 19607656 19614263 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467261 M 914 0 0 AKR7A3 nsv472824 1 19608090 19608090 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019594 M 9 1 0 "" NA18555 nsv945807 1 19609268 19613285 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755149,nssv1755190,nssv1755142,nssv1755214,nssv1755141,nssv1755196,nssv1755150,nssv1755185,nssv1755226,nssv1755181,nssv1755143,nssv1755229,nssv1755176,nssv1755210,nssv1755171,nssv1755204,nssv1755164,nssv1755182,nssv1755144,nssv1755211,nssv1755167,nssv1755206,nssv1755170,nssv1755188,nssv1755155,nssv1755233,nssv1755225,nssv1755202,nssv1755157,nssv1755213,nssv1755177,nssv1755205,nssv1755165,nssv1755207,nssv1755156,nssv1755186,nssv1755169,nssv1755198,nssv1755173,nssv1755212,nssv1755174,nssv1755200,nssv1755223,nssv1755237,nssv1755163,nssv1755230,nssv1755220,nssv1755234,nssv1755148,nssv1755199,nssv1755153,nssv1755201,nssv1755140,nssv1755217,nssv1755152,nssv1755183,nssv1755145,nssv1755208,nssv1755224,nssv1755178,nssv1755160,nssv1755197,nssv1755147,nssv1755231,nssv1755219,nssv1755192,nssv1755175,nssv1755235,nssv1755218,nssv1755236,nssv1755151,nssv1755187,nssv1755227,nssv1755216,nssv1755158,nssv1755191,nssv1755221,nssv1755195,nssv1755172,nssv1755215,nssv1755161,nssv1755193,nssv1755168,nssv1755180,nssv1755146,nssv1755232,nssv1755154,nssv1755228,nssv1755166,nssv1755179,nssv1755159,nssv1755203,nssv1755162,nssv1755189,nssv1755222,nssv1755184,nssv1755209 M 97 10 0 AKR7A3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6317621 1 19610923 19612249 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055538 M 19652 0 1 AKR7A3 nsv5432101 1 19612009 19614168 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899103 M 3202 0 1 AKR7A3 esv3585393 1 19612424 19614161 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9878978,essv9878954,essv9878982,essv9878959,essv9878987,essv9878964,essv9878977,essv9878957,essv9878974,essv9878963,essv9878972,essv9878961,essv9878984,essv9878966,essv9878986,essv9878970,essv9878973,essv9878968,essv9878976,essv9878958,essv9878980,essv9878967,essv9878985,essv9878956,essv9878975,essv9878965,essv9878981,essv9878969,essv9878979,essv9878962,essv9878983,essv9878971,essv9878990,essv9878944,essv9878955,essv9878988,essv9878945,essv9878960,essv9878989,essv9878953,essv9878991,essv9878952,essv9878992,essv9878948,essv9878994,essv9878951,essv9878993,essv9878949,essv9878946,essv9878950,essv9878947 M 2504 0 51 AKR7A3 HG01879,HG01882,HG01956,HG01985,HG02343,HG02427,HG02429,HG02455,HG02461,HG02476,HG02549,HG02666,HG02721,HG02768,HG02772,HG02798,HG02814,HG02974,HG03103,HG03139,HG03162,HG03175,HG03297,HG03303,HG03343,HG03428,HG03439,HG03473,NA18523,NA18858,NA18876,NA18879,NA19042,NA19096,NA19113,NA19117,NA19137,NA19144,NA19204,NA19209,NA19213,NA19222,NA19235,NA19307,NA19374,NA19404,NA19445,NA19452,NA19461,NA19834,NA20340 esv3663473 1 19613277 19613277 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486329 M 20 1 0 AKR7A3 nsv6318183 1 19617145 19647968 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199842 M 19652 1 0 AKR7A2,LOC100506730,PQLC2 nsv5982071 1 19620591 19620652 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528588 M 405 0 1 LOC100506730 nsv4033722 1 19620593 19620652 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848798 M 10847 0 1 LOC100506730 nsv5415233 1 19620593 19620652 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899104 M 3202 0 1 LOC100506730 nsv4518161 1 19623999 19863000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966049 M 10847 1 0 AKR7A2,CAPZB,PQLC2 nsv5427589 1 19624981 19626127 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899105 M 3202 0 1 "" esv3585394 1 19625030 19626206 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9878997,essv9879000,essv9878996,essv9879001,essv9878995,essv9878999,essv9878998 M 2504 0 7 "" HG01589,HG02050,HG02736,HG03867,HG04185,NA20870,NA20906 nsv5880772 1 19625209 19626410 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353599 M 914 0 1 "" nsv6545089 1 19625696 19626135 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250241 M 19652 0 0 "" nsv945808 1 19632483 19635875 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755239,nssv1755277,nssv1755248,nssv1755304,nssv1755247,nssv1755336,nssv1755240,nssv1755314,nssv1755325,nssv1755287,nssv1755241,nssv1755292,nssv1755324,nssv1755291,nssv1755326,nssv1755306,nssv1755266,nssv1755313,nssv1755257,nssv1755278,nssv1755254,nssv1755308,nssv1755259,nssv1755281,nssv1755274,nssv1755285,nssv1755320,nssv1755293,nssv1755265,nssv1755288,nssv1755253,nssv1755279,nssv1755243,nssv1755289,nssv1755322,nssv1755303,nssv1755251,nssv1755312,nssv1755273,nssv1755309,nssv1755318,nssv1755311,nssv1755264,nssv1755310,nssv1755246,nssv1755328,nssv1755263,nssv1755299,nssv1755260,nssv1755330,nssv1755323,nssv1755302,nssv1755250,nssv1755282,nssv1755272,nssv1755280,nssv1755249,nssv1755298,nssv1755255,nssv1755301,nssv1755275,nssv1755333,nssv1755270,nssv1755305,nssv1755245,nssv1755300,nssv1755258,nssv1755329,nssv1755319,nssv1755286,nssv1755271,nssv1755332,nssv1755268,nssv1755316,nssv1755244,nssv1755297,nssv1755321,nssv1755307,nssv1755269,nssv1755284,nssv1755267,nssv1755335,nssv1755256,nssv1755276,nssv1755252,nssv1755294,nssv1755238,nssv1755331,nssv1755261,nssv1755315,nssv1755242,nssv1755327,nssv1755317,nssv1755283,nssv1755262,nssv1755334,nssv1755290 M 97 10 0 AKR7A2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5982143 1 19646264 19646343 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521426 M 405 0 1 PQLC2 nsv5873721 1 19646430 19647245 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355622 M 914 0 1 PQLC2 nsv4045493 1 19646450 19646515 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848799 M 10847 0 1 PQLC2 nsv5982244 1 19646458 19647267 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523978 M 405 0 1 PQLC2 nsv4732222 1 19646474 19646566 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16263617 M 25 0 1 PQLC2 nsv6333755 1 19646499 19647016 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199849 M 19652 1 0 PQLC2 nsv4046953 1 19646499 19647065 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966046 M 10847 1 0 PQLC2 nsv5877982 1 19646528 19647044 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352828 M 914 0 1 PQLC2 nsv6319448 1 19646652 19647166 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055564 M 19652 0 1 PQLC2 esv2547343 1 19646723 19648947 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5328741 M 1 0 1 PQLC2 NA18507 nsv6137939 1 19646928 19648314 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899107 M 3202 0 1 PQLC2 nsv5414773 1 19647036 19647335 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899108 M 3202 0 1 PQLC2 nsv5828944 1 19647176 19648375 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456040 M 914 0 0 PQLC2 esv3585395 1 19647187 19648342 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879134,essv9879137,essv9879120,essv9879139,essv9879039,essv9879136,essv9879077,essv9879135,essv9879056,essv9879138,essv9879117,essv9879009,essv9879188,essv9879041,essv9879008,essv9879152,essv9879093,essv9879007,essv9879175,essv9879091,essv9879002,essv9879170,essv9879132,essv9879010,essv9879159,essv9879034,essv9879012,essv9879156,essv9879099,essv9879004,essv9879181,essv9879083,essv9879013,essv9879164,essv9879035,essv9879005,essv9879163,essv9879075,essv9879003,essv9879149,essv9879066,essv9879011,essv9879142,essv9879101,essv9879006,essv9879186,essv9879061,essv9879145,essv9879123,essv9879182,essv9879106,essv9879176,essv9879038,essv9879187,essv9879043,essv9879140,essv9879057,essv9879155,essv9879086,essv9879169,essv9879055,essv9879160,essv9879111,essv9879147,essv9879090,essv9879153,essv9879067,essv9879171,essv9879104,essv9879162,essv9879121,essv9879167,essv9879058,essv9879177,essv9879048,essv9879165,essv9879044,essv9879141,essv9879115,essv9879180,essv9879080,essv9879151,essv9879051,essv9879146,essv9879108,essv9879157,essv9879060,essv9879150,essv9879053,essv9879144,essv9879127,essv9879173,essv9879094,essv9879179,essv9879128,essv9879184,essv9879081,essv9879158,essv9879045,essv9879161,essv9879095,essv9879183,essv9879129,essv9879154,essv9879126,essv9879166,essv9879065,essv9879143,essv9879074,essv9879174,essv9879054,essv9879148,essv9879042,essv9879185,essv9879085,essv9879168,essv9879124,essv9879172,essv9879049,essv9879178,essv9879119,essv9879200,essv9879103,essv9879204,essv9879069,essv9879205,essv9879078,essv9879203,essv9879084,essv9879199,essv9879116,essv9879206,essv9879125,essv9879195,essv9879130,essv9879194,essv9879087,essv9879196,essv9879110,essv9879191,essv9879131,essv9879208,essv9879079,essv9879201,essv9879062,essv9879190,essv9879073,essv9879207,essv9879100,essv9879197,essv9879102,essv9879193,essv9879036,essv9879202,essv9879089,essv9879209,essv9879098,essv9879189,essv9879133,essv9879192,essv9879059,essv9879198,essv9879040,essv9879210,essv9879076,essv9879023,essv9879105,essv9879027,essv9879071,essv9879025,essv9879046,essv9879029,essv9879070,essv9879022,essv9879092,essv9879028,essv9879113,essv9879024,essv9879050,essv9879026,essv9879112,essv9879014,essv9879064,essv9879021,essv9879107,essv9879015,essv9879097,essv9879017,essv9879047,essv9879016,essv9879037,essv9879032,essv9879114,essv9879019,essv9879118,essv9879030,essv9879072,essv9879018,essv9879088,essv9879031,essv9879052,essv9879020,essv9879096,essv9879033,essv9879063,essv9879082,essv9879068,essv9879122,essv9879109 M 2504 0 209 PQLC2 HG00640,HG01069,HG01089,HG01092,HG01105,HG01174,HG01183,HG01286,HG01360,HG01384,HG01393,HG01462,HG01806,HG01817,HG01879,HG01880,HG01883,HG01889,HG01890,HG01894,HG01989,HG01990,HG02010,HG02012,HG02014,HG02255,HG02284,HG02309,HG02325,HG02332,HG02419,HG02449,HG02485,HG02496,HG02497,HG02537,HG02562,HG02570,HG02577,HG02582,HG02585,HG02610,HG02613,HG02620,HG02621,HG02623,HG02667,HG02676,HG02679,HG02703,HG02721,HG02757,HG02768,HG02771,HG02799,HG02805,HG02811,HG02816,HG02819,HG02840,HG02851,HG02870,HG02879,HG02882,HG02885,HG02888,HG02938,HG02941,HG02943,HG02944,HG02946,HG02947,HG02968,HG02979,HG02981,HG03024,HG03027,HG03040,HG03046,HG03048,HG03055,HG03058,HG03060,HG03063,HG03066,HG03073,HG03078,HG03081,HG03082,HG03084,HG03095,HG03096,HG03100,HG03103,HG03111,HG03114,HG03118,HG03124,HG03126,HG03129,HG03132,HG03160,HG03166,HG03175,HG03195,HG03196,HG03209,HG03224,HG03225,HG03246,HG03247,HG03259,HG03265,HG03268,HG03280,HG03291,HG03294,HG03295,HG03298,HG03351,HG03363,HG03372,HG03376,HG03382,HG03401,HG03451,HG03457,HG03460,HG03461,HG03464,HG03469,HG03472,HG03485,HG03499,HG03517,HG03518,HG03559,HG03567,NA18489,NA18507,NA18510,NA18861,NA18867,NA18868,NA18871,NA18873,NA18874,NA18878,NA18881,NA18908,NA18910,NA18912,NA18915,NA18923,NA18924,NA18934,NA19017,NA19023,NA19026,NA19035,NA19037,NA19043,NA19108,NA19121,NA19129,NA19131,NA19137,NA19149,NA19171,NA19175,NA19185,NA19200,NA19201,NA19204,NA19214,NA19223,NA19225,NA19235,NA19236,NA19238,NA19239,NA19256,NA19257,NA19308,NA19319,NA19355,NA19372,NA19383,NA19435,NA19449,NA19457,NA19463,NA19467,NA19625,NA19704,NA19707,NA19713,NA19835,NA19908,NA20282,NA20291,NA20294,NA20298,NA20317,NA20318,NA20320,NA20346,NA20351,NA20357 nsv3202592 1 19647189 19648334 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355646,nssv14355645,nssv14355644 M 9 0 3 PQLC2 NA19238,NA19239,NA19240 nsv5580646 1 19647189 19648340 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061870 M 35 0 1 PQLC2 NA19238 nsv5883415 1 19647189 19648340 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352313 M 914 0 1 PQLC2 esv2660555 1 19647189 19648341 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5466640,essv6081891,essv5560725,essv6117639,essv6062088,essv6452882,essv6545446,essv6037947,essv6131776,essv5630160,essv5670067,essv6150029,essv5856439,essv5884607,essv5502447,essv5971308,essv5897392,essv6423245,essv6143651,essv6586113,essv6353463,essv5589110,essv5762404,essv5657035,essv5516489,essv6066976,essv6502609,essv6397292,essv5895796,essv6373180,essv5539812,essv5503826,essv6177338,essv6397280,essv6057476,essv5457820,essv6524171,essv5947311,essv6382508,essv5657975,essv5672962,essv5452959,essv6474845,essv5605436,essv6262062,essv6581219 M 1151 0 46 PQLC2 HG00640,HG01069,HG01174,HG01384,HG01462,NA18487,NA18489,NA18507,NA18510,NA18861,NA18867,NA18868,NA18871,NA18873,NA18874,NA18908,NA18912,NA18923,NA18924,NA18934,NA19108,NA19129,NA19171,NA19201,NA19225,NA19236,NA19238,NA19239,NA19240,NA19256,NA19257,NA19355,NA19371,NA19372,NA19373,NA19383,NA19435,NA19449,NA19457,NA19463,NA19467,NA19707,NA19713,NA19835,NA19908,NA20346 nsv6322791 1 19647189 19648341 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055565 M 19652 0 1 PQLC2 nsv5982245 1 19647198 19648203 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535834 M 405 0 1 PQLC2 nsv4517434 1 19647198 19648313 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848800 M 10847 0 1 PQLC2 nsv3321034 1 19647198 19648349 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489677 M 14 0 1 PQLC2 NA19240 nsv3170666 1 19647198 19648350 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384633 M 9 0 1 PQLC2 NA19240 nsv5431918 1 19647725 19648102 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899110 M 3202 0 1 PQLC2 dgv21e212 1 19650600 19688432 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577759,esv3577758 M 873 0 6 CAPZB,PQLC2 400704LC,400739SS,400987FB,401054VM,401251WN,401894PD nsv4043087 1 19656000 19662000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966047 M 10847 1 0 "" esv2674133 1 19656618 19661193 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5808480,essv6084393,essv6015034 M 1151 0 3 "" HG01359,HG01366,NA19758 nsv5415816 1 19656624 19661182 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899111 M 3202 0 1 "" nsv6331959 1 19656624 19661183 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055229 M 19652 0 1 "" esv3585396 1 19656632 19661212 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879213,essv9879212,essv9879211 M 2504 0 3 "" HG01359,HG01366,NA19758 nsv6333537 1 19659045 19661809 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055232 M 19652 0 1 "" nsv4043927 1 19662008 19662737 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966048 M 10847 1 0 "" nsv4039037 1 19662283 19662738 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848801 M 10847 0 1 "" nsv5539222 1 19662737 19662737 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900039 M 3202 1 0 "" nsv5562347 1 19662737 19662738 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899112 M 3202 0 0 "" nsv4517072 1 19664165 19664282 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848803 M 10847 0 1 "" nsv5874049 1 19664200 19664281 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369616 M 914 0 1 "" nsv6321058 1 19664348 19677978 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199852 M 19652 1 0 CAPZB nsv4042533 1 19665079 19665134 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848804 M 10847 0 1 "" nsv5421244 1 19669062 19669124 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900040 M 3202 0 1 CAPZB nsv5870786 1 19673426 19673577 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361586 M 914 0 1 CAPZB nsv5982008 1 19674158 19679613 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518762 M 405 0 1 CAPZB nsv5605783 1 19684492 19684492 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061881 M 35 1 0 CAPZB HG02587 nsv5608135 1 19692777 19692777 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061885 M 35 1 0 CAPZB NA19239 nsv4750454 1 19692786 19692786 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16270227 M 25 1 0 CAPZB nsv5958001 1 19692804 19692804 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351411 M 914 1 0 CAPZB nsv6050835 1 19692804 19692804 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524933 M 405 1 0 CAPZB nsv4049945 1 19695682 19704938 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848805 M 10847 0 1 CAPZB nsv6334945 1 19699337 19700264 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056222 M 19652 0 1 CAPZB nsv6334160 1 19717214 19727413 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056240 M 19652 0 1 CAPZB nsv6317995 1 19719832 19723939 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056241 M 19652 0 1 CAPZB nsv6329105 1 19719954 19721345 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056242 M 19652 0 1 CAPZB esv3585397 1 19720034 19731953 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879215,essv9879214 M 2504 0 2 CAPZB HG00182,NA20276 esv3577761 1 19720092 19731646 CNV loss Uddin_et_al_2014 25503493 SNP array essv9804755 M 873 0 1 CAPZB 400138LA nsv5417332 1 19720434 19732017 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900042 M 3202 0 1 CAPZB nsv6318425 1 19720434 19732017 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056243 M 19652 0 1 CAPZB nsv4049857 1 19720434 19732018 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848806 M 10847 0 1 CAPZB nsv6049132 1 19720461 19720461 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536797 M 405 1 0 CAPZB nsv834358 1 19727865 19906027 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443874 M 95 0 1 CAPZB nsv5409 1 19731298 19735874 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1934 M 9 1 0 CAPZB NA18555 nsv1014816 1 19753847 19775811 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478468 M 11257 0 1 CAPZB nsv4035204 1 19755000 19768300 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848807 M 10847 0 1 CAPZB dgv32n166 1 19758000 19763000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4047840,nsv4043350 M 10847 0 2 CAPZB nsv6325975 1 19758590 19761475 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055784 M 19652 0 1 CAPZB nsv6323993 1 19759448 19775928 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055787 M 19652 0 1 CAPZB nsv4052337 1 19761199 19763806 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848810 M 10847 0 1 CAPZB esv2398290 1 19761260 19761789 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4666927 M 1 0 1 CAPZB NA18507 esv3747 1 19761360 19761664 CNV loss Wang_et_al_2008 18987735 Sequencing essv26188 M 1 0 1 CAPZB YH esv6224 1 19761375 19761664 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28665 M 1 0 0 CAPZB nsv471771 1 19761390 19761611 CNV loss Hinds_et_al_2006 16327809 Oligo aCGH,PCR nssv646052 M 95 CAPZB nsv3321470 1 19761413 19761578 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472834,nssv14485552,nssv14485153 M 14 0 3 CAPZB HG00268,HG00514,HG04217 nsv1069009 1 19761416 19761699 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765555 M 1 0 1 CAPZB KWP1 esv3553122 1 19761424 19761631 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9751869 M 767 0 1 CAPZB nsv4747890 1 19761425 19761591 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16295463 M 25 0 1 CAPZB nsv5564802 1 19761427 19761592 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17061899 M 35 0 1 CAPZB HG00512 dgv26e199 1 19761427 19761593 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2666198,esv2673483 M 1151 0 244 CAPZB HG00108,HG00120,HG00125,HG00127,HG00140,HG00154,HG00174,HG00177,HG00180,HG00182,HG00183,HG00186,HG00187,HG00231,HG00232,HG00237,HG00242,HG00244,HG00246,HG00250,HG00251,HG00252,HG00254,HG00257,HG00259,HG00260,HG00266,HG00268,HG00273,HG00274,HG00275,HG00276,HG00278,HG00280,HG00282,HG00285,HG00309,HG00313,HG00319,HG00323,HG00324,HG00326,HG00328,HG00330,HG00334,HG00336,HG00337,HG00338,HG00339,HG00343,HG00345,HG00346,HG00353,HG00361,HG00367,HG00369,HG00372,HG00377,HG00419,HG00437,HG00443,HG00448,HG00473,HG00476,HG00478,HG00500,HG00501,HG00512,HG00524,HG00525,HG00534,HG00542,HG00554,HG00557,HG00583,HG00584,HG00593,HG00613,HG00619,HG00620,HG00634,HG00650,HG00653,HG00654,HG00656,HG00662,HG00683,HG00684,HG00690,HG00692,HG00699,HG00701,HG00737,HG00740,HG01048,HG01052,HG01067,HG01075,HG01082,HG01083,HG01113,HG01124,HG01125,HG01133,HG01137,HG01140,HG01174,HG01250,HG01360,HG01366,HG01374,HG01377,HG01465,HG01491,HG01518,HG01521,HG01522,HG01551,NA07357,NA10847,NA10851,NA11830,NA11881,NA11894,NA11920,NA11932,NA11993,NA12003,NA12004,NA12044,NA12045,NA12046,NA12058,NA12144,NA12156,NA12275,NA12283,NA12286,NA12414,NA12749,NA12761,NA12763,NA12827,NA12828,NA12829,NA12830,NA12891,NA18486,NA18501,NA18507,NA18517,NA18519,NA18520,NA18534,NA18541,NA18547,NA18548,NA18557,NA18558,NA18559,NA18561,NA18565,NA18567,NA18572,NA18577,NA18582,NA18595,NA18596,NA18597,NA18599,NA18602,NA18606,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18623,NA18632,NA18633,NA18636,NA18853,NA18861,NA18909,NA18933,NA18940,NA18942,NA18943,NA18945,NA18948,NA18953,NA18956,NA18960,NA18961,NA18965,NA18972,NA18975,NA18980,NA18983,NA18987,NA19004,NA19009,NA19083,NA19087,NA19088,NA19114,NA19116,NA19160,NA19210,NA19239,NA19313,NA19316,NA19319,NA19328,NA19331,NA19381,NA19394,NA19428,NA19445,NA19449,NA19466,NA19467,NA19663,NA19664,NA19670,NA19728,NA19732,NA19749,NA19773,NA19777,NA19789,NA20278,NA20314,NA20504,NA20507,NA20520,NA20524,NA20529,NA20541,NA20586,NA20752,NA20773 nsv1111049 1 19761427 19761593 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3962248 M 2 0 1 CAPZB KWS1 nsv3524998 1 19761427 19761593 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356309,nssv14356310,nssv14356311,nssv14356308 M 9 0 4 CAPZB HG00512,HG00514,NA19238,NA19239 nsv5982011 1 19761427 19761593 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518943 M 405 0 1 CAPZB nsv4390862 1 19761428 19761593 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15704404 M 174 0 1 CAPZB nsv3190213 1 19761430 19761595 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14416598 M 9 0 0 CAPZB HG00514 nsv4518276 1 19761460 19761695 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848811 M 10847 0 1 CAPZB nsv5429292 1 19761460 19761700 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900043 M 3202 0 1 CAPZB nsv1144333 1 19761473 19761584 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995076 M 2 0 1 CAPZB KWS1 nsv5614518 1 19766249 19766249 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062169 M 35 1 0 CAPZB HG03065 nsv5423072 1 19775480 19775560 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900044 M 3202 0 1 CAPZB nsv4052389 1 19781138 19783957 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848813 M 10847 0 1 CAPZB nsv6319268 1 19787185 19791053 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055829 M 19652 0 1 CAPZB nsv4731219 1 19793854 19793931 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285807 M 25 0 1 CAPZB nsv6538533 1 19798086 19799385 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250263 M 19652 0 0 CAPZB nsv5422172 1 19803353 19804368 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900045 M 3202 0 1 CAPZB esv3577762 1 19810210 19841781 CNV loss Uddin_et_al_2014 25503493 SNP array essv9804866 M 873 0 1 CAPZB 400427SD nsv6320733 1 19810495 19817194 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201977 M 19652 1 0 CAPZB nsv1075274 1 19811999 19812400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770548 M 1 0 1 CAPZB KWP1 esv3386001 1 19814718 19814727 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863679 M 185 1 0 "" NA12005 nsv5604623 1 19817539 19817539 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062035 M 35 1 0 "" NA19650 nsv5684265 1 19817547 19817547 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205677,nssv17180692 M 3202 2 0 "" nsv6256727 1 19817547 19817547 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857326 M 1021 1 0 "" esv3674566 1 19824368 19824369 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496312 M 20 0 0 "" nsv4566109 1 19826297 19826298 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029763 M 10847 1 0 "" nsv6536609 1 19829565 19830517 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250268 M 19652 0 0 "" nsv3194345 1 19834431 19835263 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356337 M 9 0 1 "" HG00513 nsv5432852 1 19838715 19839934 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902228 M 3202 0 1 "" nsv5828955 1 19838722 19839955 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469562 M 914 0 0 "" nsv6551485 1 19842370 19842833 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250270 M 19652 0 0 "" nsv6554473 1 19845531 19846266 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250271 M 19652 0 0 "" nsv5982156 1 19845567 19845786 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518571 M 405 0 1 "" nsv6321951 1 19848513 19865960 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056122 M 19652 0 1 "" nsv6540820 1 19848538 19849072 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250272 M 19652 0 0 "" nsv5428799 1 19849169 19850311 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902229 M 3202 0 1 "" nsv470703 1 19849656 19904211 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547716 M 443 1 0 "" HGDP01049 nsv5424322 1 19850192 19899731 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902230 M 3202 1 0 "" nsv4046739 1 19850192 19899740 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966050 M 10847 1 0 "" nsv6543598 1 19851483 19852082 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250273 M 19652 0 0 "" nsv4036109 1 19853123 19853230 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966051 M 10847 1 0 "" nsv5432177 1 19853123 19853230 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683860 M 3202 1 0 "" nsv6043985 1 19853174 19853174 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532090 M 405 1 0 "" esv3585399 1 19855608 19885146 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879240 M 2504 1 0 "" NA18629 nsv1011246 1 19860697 19935636 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700300 M 11257 1 0 MINOS1,MINOS1-NBL1,RPS14P3 nsv6543262 1 19861531 19862045 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250274 M 19652 0 0 "" nsv6543373 1 19862326 19863481 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250275 M 19652 0 0 "" nsv6543495 1 19865419 19865865 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250276 M 19652 0 0 "" nsv4049194 1 19868171 19868359 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848814 M 10847 0 1 "" nsv6322241 1 19868415 19905576 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18055964 M 19652 0 1 "" nsv6330651 1 19874868 19877988 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202001 M 19652 1 0 "" nsv6538583 1 19879916 19881231 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250278 M 19652 0 0 "" nsv6541729 1 19881601 19882441 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250279 M 19652 0 0 "" nsv5421357 1 19881605 19891330 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902231 M 3202 1 0 "" nsv5829053 1 19884090 19886554 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450104 M 914 0 0 "" esv3682499 1 19884299 19884406 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467325 M 20 0 1 "" nsv5879975 1 19884427 19886544 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352001 M 914 0 1 "" nsv4051196 1 19884427 19886545 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848815 M 10847 0 1 "" nsv6333562 1 19884427 19886545 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056003 M 19652 0 1 "" nsv6544888 1 19887489 19888440 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250280 M 19652 0 0 "" nsv6334150 1 19887489 19892348 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202003 M 19652 1 0 "" nsv5957011 1 19887808 19887808 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352443 M 914 1 0 "" nsv4040736 1 19892275 19897782 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848816 M 10847 0 1 "" nsv6326378 1 19892275 19897782 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056017 M 19652 0 1 "" nsv6324465 1 19893851 19895324 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056021 M 19652 0 1 "" nsv508991 1 19894068 20032404 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621085 M 4 1 0 HTR6,MINOS1,MINOS1-NBL1,NBL1,RPS14P3,TMCO4 NA15510 esv3674570 1 19894554 19894555 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496316 M 20 0 0 "" nsv4459889 1 19894613 19894614 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029773 M 10847 1 0 "" nsv5881133 1 19894701 19909491 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363250 M 914 0 1 "" esv3585401 1 19895022 19900627 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879249,essv9879250,essv9879248 M 2504 3 0 "" HG01521,NA18629,NA20508 dgv15e214 1 19895022 19902091 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585402,esv3585400 M 2504 0 7 "" HG02731,HG03673,HG04076,NA20754,NA20846,NA20867,NA20885 esv2665636 1 19895344 19902131 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5484167 M 1151 0 1 "" NA20754 nsv5829133 1 19895444 19902316 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450609 M 914 0 0 "" nsv5871872 1 19895454 19902020 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356908 M 914 0 1 "" nsv6318741 1 19895496 19901981 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056024 M 19652 0 1 "" nsv4050989 1 19895497 19902005 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848817 M 10847 0 1 "" nsv5420000 1 19895501 19901975 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902234 M 3202 0 1 "" nsv3522558 1 19898276 19898276 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382629 M 9 1 0 "" NA19240 nsv5399361 1 19898276 19898276 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902235 M 3202 1 0 "" nsv5616866 1 19898276 19898276 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062053 M 35 1 0 "" NA19238 nsv5959655 1 19898276 19898276 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17367674 M 914 1 0 "" nsv4532868 1 19898276 19898277 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025906 M 10847 1 0 "" nsv3321479 1 19898277 19898277 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473547 M 14 1 0 "" NA19240 esv3309260 1 19898280 19898281 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7838020,essv7838466,essv7837805 M 185 3 0 "" NA12878,NA12891,NA12892 esv3335212 1 19898281 19898294 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8673879,essv8673878 M 185 2 0 "" NA19238,NA19240 nsv3561441 1 19898292 19898292 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356362,nssv14356361 M 9 2 0 "" NA19238,NA19240 nsv5684468 1 19898292 19898292 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17180511,nssv17205678 M 3202 2 0 "" nsv5829134 1 19899617 19909511 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462220 M 914 0 0 "" nsv5874365 1 19901865 19905259 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363125 M 914 0 1 "" nsv5829135 1 19901917 19906116 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468084 M 914 0 0 "" esv3663500 1 19902212 19902212 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486353 M 20 1 0 "" nsv5557255 1 19904829 19938477 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902237 M 3202 0 0 MINOS1,MINOS1-NBL1,RPS14P3 nsv5563112 1 19904860 19938477 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902238 M 3202 0 0 MINOS1,MINOS1-NBL1,RPS14P3 nsv6551569 1 19915011 19915885 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248167 M 19652 0 0 "" nsv6552670 1 19917970 19918909 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248168 M 19652 0 0 "" nsv6548436 1 19920366 19921068 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248169 M 19652 0 0 "" esv3663510 1 19921138 19921138 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486362 M 20 1 0 "" nsv6544450 1 19921211 19922085 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248170 M 19652 0 0 "" nsv5982017 1 19922939 19923032 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523983 M 405 0 1 "" nsv6316568 1 19925861 19928339 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056433 M 19652 0 1 MINOS1,MINOS1-NBL1 nsv6553780 1 19927270 19927872 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248171 M 19652 0 0 MINOS1,MINOS1-NBL1 esv1007512 1 19930229 19946810 OTHER inversion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565353 M 3 0 0 MINOS1,MINOS1-NBL1,RPS14P3 HuRef nsv945809 1 19934016 19934963 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755338,nssv1755430,nssv1755423,nssv1755403,nssv1755346,nssv1755427,nssv1755339,nssv1755405,nssv1755347,nssv1755413,nssv1755340,nssv1755395,nssv1755367,nssv1755433,nssv1755342,nssv1755386,nssv1755369,nssv1755389,nssv1755371,nssv1755393,nssv1755370,nssv1755404,nssv1755365,nssv1755391,nssv1755373,nssv1755379,nssv1755341,nssv1755377,nssv1755361,nssv1755376,nssv1755352,nssv1755411,nssv1755366,nssv1755406,nssv1755417,nssv1755382,nssv1755358,nssv1755375,nssv1755337,nssv1755383,nssv1755354,nssv1755396,nssv1755355,nssv1755378,nssv1755350,nssv1755409,nssv1755345,nssv1755428,nssv1755420,nssv1755408,nssv1755368,nssv1755381,nssv1755353,nssv1755400,nssv1755356,nssv1755394,nssv1755424,nssv1755425,nssv1755419,nssv1755380,nssv1755362,nssv1755384,nssv1755351,nssv1755432,nssv1755364,nssv1755387,nssv1755421,nssv1755398,nssv1755360,nssv1755401,nssv1755344,nssv1755434,nssv1755418,nssv1755412,nssv1755372,nssv1755429,nssv1755416,nssv1755407,nssv1755343,nssv1755385,nssv1755374,nssv1755390,nssv1755363,nssv1755399,nssv1755349,nssv1755392,nssv1755359,nssv1755388,nssv1755348,nssv1755410,nssv1755415,nssv1755414,nssv1755357,nssv1755426,nssv1755422,nssv1755431,nssv1755402 M 97 10 0 MINOS1,MINOS1-NBL1,RPS14P3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv110n223 1 19938097 19938869 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6554792,nsv6548359 M 19652 0 0 MINOS1,MINOS1-NBL1 nsv6325898 1 19938295 19939094 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056458 M 19652 0 1 MINOS1,MINOS1-NBL1 nsv6329769 1 19942143 19945193 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056463 M 19652 0 1 MINOS1,MINOS1-NBL1 nsv4460184 1 19948143 19948144 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025914 M 10847 1 0 MINOS1,MINOS1-NBL1 esv3663514 1 19949414 19949414 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486366 M 20 1 0 MINOS1,MINOS1-NBL1 nsv1076211 1 19954876 19954943 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763858 M 1 0 1 MINOS1,MINOS1-NBL1 KWP1 nsv5575678 1 19954877 19954942 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062063 M 35 0 1 MINOS1,MINOS1-NBL1 HG00512 nsv5879443 1 19954877 19954942 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355342 M 914 0 1 MINOS1,MINOS1-NBL1 esv3553344 1 19954877 19954943 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9752091 M 767 0 1 MINOS1,MINOS1-NBL1 nsv1144359 1 19954877 19954943 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995111 M 2 0 1 MINOS1,MINOS1-NBL1 KWS1 nsv3526113 1 19954877 19954943 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356410,nssv14356411 M 9 0 2 MINOS1,MINOS1-NBL1 HG00512,NA19239 nsv5431026 1 19954877 19954943 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902240 M 3202 0 1 MINOS1,MINOS1-NBL1 nsv5982480 1 19954877 19954943 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521486 M 405 0 1 MINOS1,MINOS1-NBL1 esv3682521 1 19954877 19954944 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467345 M 20 0 1 MINOS1,MINOS1-NBL1 nsv4045009 1 19954877 19955217 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848818 M 10847 0 1 MINOS1,MINOS1-NBL1 nsv159533 1 19954878 19954943 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178111 M 24 MINOS1,MINOS1-NBL1 nsv4390884 1 19954878 19954943 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15704626 M 174 0 1 MINOS1,MINOS1-NBL1 nsv4735209 1 19954884 19954947 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273782 M 25 0 1 MINOS1,MINOS1-NBL1 nsv3321481 1 19954903 19954953 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14478720,nssv14481729 M 14 0 2 MINOS1,MINOS1-NBL1 HG01352,HG04217 esv3663523 1 19955174 19955174 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486374 M 20 1 0 MINOS1,MINOS1-NBL1 esv3663529 1 19957122 19957122 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486380 M 20 1 0 MINOS1-NBL1 nsv6539965 1 19961588 19963691 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248176 M 19652 0 0 MINOS1-NBL1 nsv1077188 1 19968998 19969064 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768356 M 1 0 1 MINOS1-NBL1 KWP1 esv2395760 1 19969294 19969727 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4876743 M 1 0 1 MINOS1-NBL1,NBL1 NA18507 esv7640 1 19969347 19969499 CNV gain Ahn_et_al_2009 19470904 Sequencing essv30081 M 1 0 0 MINOS1-NBL1 nsv4732315 1 19969467 19969609 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16284299 M 25 0 1 MINOS1-NBL1 nsv5573535 1 19969467 19969610 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062065 M 35 0 1 MINOS1-NBL1 HG00731 esv2665804 1 19969467 19969611 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6299994,essv6321951,essv6504015,essv5406583,essv6164313,essv5772995,essv5923218,essv6050765,essv6036115,essv6426654,essv5688136,essv6358926,essv6096985,essv5639250,essv6069894,essv5879207,essv6397529,essv5726227,essv6554793,essv5527392,essv5866477,essv5523208,essv5676047,essv6091084,essv6118858,essv5781165,essv6052525,essv6003600,essv6477665,essv5428971,essv5652595,essv5459437,essv5792817,essv5759792,essv5931890,essv6560099,essv5512168,essv5875277,essv6408548,essv6511055,essv6137860,essv6502108,essv5663368,essv6295411,essv5605740,essv6576085,essv5481825,essv6232076 M 1151 0 48 MINOS1-NBL1 HG00103,HG00325,HG00344,HG00475,HG00524,HG00654,HG00683,HG01048,HG01066,HG01107,HG01108,HG01134,HG01171,HG01174,HG01390,NA18486,NA18489,NA18510,NA18532,NA18543,NA18907,NA18934,NA19093,NA19116,NA19190,NA19197,NA19360,NA19372,NA19374,NA19375,NA19377,NA19381,NA19382,NA19383,NA19384,NA19385,NA19393,NA19394,NA19398,NA19399,NA19404,NA19436,NA19451,NA19774,NA20127,NA20340,NA20344,NA20796 esv3553455 1 19969467 19969611 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9752202 M 767 0 1 MINOS1-NBL1 nsv1146286 1 19969473 19969587 CNV deletion John_et_al_2014 26484159 Sequencing nssv3999487 M 1 0 1 MINOS1-NBL1 KWB1 nsv3186569 1 19969474 19969618 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384431 M 9 0 0 MINOS1-NBL1 NA19240 nsv5982019 1 19969476 19969624 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519390 M 405 0 1 MINOS1-NBL1 nsv3321299 1 19969481 19969624 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478261,nssv14484269,nssv14481744 M 14 0 3 MINOS1-NBL1 HG02818,NA19240,NA19434 nsv1142753 1 19970400 19971300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994252 M 2 0 1 MINOS1-NBL1,NBL1 KWS1 nsv1077193 1 19970699 19971400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770081 M 1 0 1 MINOS1-NBL1,NBL1 KWP1 nsv954899 1 19970701 19995000 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003148 M 1 0 1 HTR6,MINOS1-NBL1,NBL1 BILGI_BIOE nsv5948853 1 19976463 19976463 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17362562 M 914 1 0 MINOS1-NBL1,NBL1 nsv4536242 1 19976463 19976464 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025925 M 10847 1 0 MINOS1-NBL1,NBL1 nsv4533852 1 19976486 19976487 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025933 M 10847 1 0 MINOS1-NBL1,NBL1 nsv5542002 1 19976486 19976526 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902241 M 3202 1 0 MINOS1-NBL1,NBL1 nsv474503 1 19979835 19979835 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013748 M 9 1 0 MINOS1-NBL1,NBL1 NA18956 nsv545729 1 19983927 19992513 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711284 M 17421 0 1 HTR6,MINOS1-NBL1,NBL1 nsv4570095 1 19996035 19996036 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025940 M 10847 1 0 HTR6 nsv5718892 1 19998317 19998317 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17251012 M 3202 1 0 HTR6 nsv5556697 1 19998317 19998368 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902243 M 3202 1 0 HTR6 nsv5424970 1 19998995 19999079 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902244 M 3202 0 1 HTR6 nsv4047379 1 20000127 20001032 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848819 M 10847 0 1 HTR6 nsv6335019 1 20007196 20026028 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056617 M 19652 0 1 HTR6,TMCO4 esv3585405 1 20012340 20015025 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879297 M 2504 0 1 TMCO4 HG03376 nsv4044265 1 20012351 20015034 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848820 M 10847 0 1 TMCO4 nsv5416826 1 20012351 20015034 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902245 M 3202 0 1 TMCO4 nsv6319316 1 20012351 20015034 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056620 M 19652 0 1 TMCO4 nsv4318930 1 20013740 20024691 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789080 M 10847 0 0 TMCO4 nsv4517479 1 20018542 20026033 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848821 M 10847 0 1 TMCO4 nsv5419014 1 20024643 20026022 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902246 M 3202 0 1 TMCO4 nsv4038446 1 20028522 20033672 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848822 M 10847 0 1 TMCO4 esv3585406 1 20029024 20039787 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879298 M 2504 0 1 TMCO4 HG03695 nsv5433046 1 20029192 20042585 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902247 M 3202 0 1 TMCO4 nsv6317328 1 20030162 20033012 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056361 M 19652 0 1 TMCO4 nsv6315871 1 20030281 20054670 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056362 M 19652 0 1 TMCO4 nsv4049494 1 20030282 20054666 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848823 M 10847 0 1 TMCO4 nsv5691515 1 20041120 20041120 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17179649 M 3202 1 0 TMCO4 nsv6326037 1 20043455 20056034 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202309 M 19652 1 0 TMCO4 esv3577763 1 20047212 20052507 CNV loss Uddin_et_al_2014 25503493 SNP array essv9804977 M 873 0 1 TMCO4 401173AI nsv6335157 1 20047363 20055620 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056394 M 19652 0 1 TMCO4 nsv4036717 1 20047363 20055632 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848824 M 10847 0 1 TMCO4 nsv4460548 1 20054142 20054143 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025951 M 10847 1 0 TMCO4 nsv6536897 1 20055840 20056262 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248189 M 19652 0 0 TMCO4 nsv4040673 1 20062492 20064326 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848825 M 10847 0 1 TMCO4 nsv4460192 1 20064487 20064488 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025960 M 10847 1 0 TMCO4 nsv5873803 1 20067144 20071181 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354221 M 914 0 1 TMCO4 nsv5828982 1 20067218 20071242 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451440 M 914 0 0 TMCO4 nsv5874394 1 20069733 20072364 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367807 M 914 0 1 TMCO4 nsv5829071 1 20070218 20071217 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464902,nssv17452860 M 914 0 0 TMCO4 nsv6332491 1 20078365 20078960 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056958 M 19652 0 1 TMCO4 nsv4534899 1 20082650 20082651 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025968 M 10847 1 0 TMCO4 nsv4048831 1 20084671 20084795 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848826 M 10847 0 1 TMCO4 nsv5430296 1 20084671 20084795 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902249 M 3202 0 1 TMCO4 esv22015 1 20090476 20091962 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11329 M 40 0 1 TMCO4 NA18861 esv3577764 1 20091612 20099109 CNV loss Uddin_et_al_2014 25503493 SNP array essv9805088 M 873 0 1 TMCO4 401453OL nsv3216815 1 20092768 20118464 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14274714,nssv14274715 M 9 2 0 TMCO4 HG00732,HG00733 nsv4042379 1 20095189 20098606 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848827 M 10847 0 1 TMCO4 nsv1003518 1 20096288 20216860 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700850 M 11257 0 1 OTUD3,RNF186,TMCO4 nsv5545410 1 20096378 20096378 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902250 M 3202 1 0 TMCO4 nsv5616661 1 20096378 20096378 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062321 M 35 1 0 TMCO4 HG00732 nsv5959824 1 20096378 20096378 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354538 M 914 1 0 TMCO4 nsv6051314 1 20096378 20096378 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527591 M 405 1 0 TMCO4 nsv3064048 1 20096382 20096382 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017018 M 2 1 0 TMCO4 NA12878 nsv3558749 1 20096382 20096382 CNV mobile element insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438801 M 9 1 0 TMCO4 HG00733 nsv3321055 1 20096394 20096394 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490811,nssv14481552,nssv14487448 M 14 3 0 TMCO4 HG00268,HG00733,NA12878 esv3450715 1 20096423 20096657 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8699413 M 185 1 0 TMCO4 NA12878 esv3674574 1 20096482 20096483 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496320 M 20 0 0 TMCO4 nsv6543186 1 20103507 20103841 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248197 M 19652 0 0 TMCO4 nsv6550778 1 20103603 20104258 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248198 M 19652 0 0 TMCO4 nsv5871939 1 20104580 20105363 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351688 M 914 0 1 TMCO4 nsv5949417 1 20105352 20105352 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361503 M 914 1 0 TMCO4 nsv6334616 1 20108737 20110060 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056171 M 19652 0 1 TMCO4 nsv4460409 1 20110087 20110088 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025975 M 10847 1 0 TMCO4 nsv6256737 1 20111362 20111362 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857336 M 1021 1 0 TMCO4 nsv4573229 1 20114869 20114870 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025985 M 10847 1 0 TMCO4 nsv5721951 1 20114885 20114885 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17249999 M 3202 1 0 TMCO4 nsv4460410 1 20117803 20117804 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16025996 M 10847 1 0 TMCO4 nsv4740519 1 20124398 20124456 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16265504 M 25 0 1 TMCO4 nsv4036907 1 20126424 20126498 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848828 M 10847 0 1 "" nsv5426337 1 20126424 20126498 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902251 M 3202 0 1 "" nsv6333733 1 20132395 20139902 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056193 M 19652 0 1 "" nsv6555150 1 20145331 20146162 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248205 M 19652 0 0 "" nsv4517081 1 20147266 20147713 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848829 M 10847 0 1 "" nsv4460194 1 20148272 20148273 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026016 M 10847 1 0 "" nsv5431389 1 20159929 20160974 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902253 M 3202 0 1 "" nsv6319588 1 20160189 20162458 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056759 M 19652 0 1 "" nsv6317559 1 20160227 20161304 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056760 M 19652 0 1 "" nsv4516919 1 20160251 20160988 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848830 M 10847 0 1 "" nsv5420235 1 20160274 20161021 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902254 M 3202 1 0 "" nsv5982168 1 20160911 20162431 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17535747 M 405 1 0 "" nsv5415775 1 20161064 20162560 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902255 M 3202 1 0 "" nsv5605527 1 20161864 20161864 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062349 M 35 1 0 "" NA18939 nsv5609621 1 20162884 20162884 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062350 M 35 1 0 "" NA19239 nsv5953052 1 20162884 20162884 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358848 M 914 1 0 "" nsv4535854 1 20162884 20162885 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026593 M 10847 1 0 "" nsv5534511 1 20162908 20162925 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902257 M 3202 1 0 "" nsv4048363 1 20168557 20169874 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848832 M 10847 0 1 "" nsv5414221 1 20168557 20169874 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902258 M 3202 0 1 "" esv3585407 1 20169122 20172285 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879299 M 2504 0 1 "" HG03684 nsv5433686 1 20169135 20172285 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902259 M 3202 0 1 "" nsv5887175 1 20170693 20170991 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351129 M 914 0 1 "" nsv4044613 1 20177539 20177619 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966052 M 10847 1 0 "" nsv4041640 1 20177715 20177860 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848833 M 10847 0 1 "" nsv6543853 1 20179297 20180555 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248207 M 19652 0 0 "" nsv4048696 1 20180756 20182022 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848834 M 10847 0 1 "" nsv6320905 1 20180756 20182022 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056784 M 19652 0 1 "" nsv4041111 1 20182431 20182609 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848835 M 10847 0 1 "" nsv5982249 1 20182431 20182610 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524157 M 405 0 1 "" nsv4460414 1 20183954 20183955 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026604 M 10847 1 0 "" nsv4034868 1 20185895 20189203 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848836 M 10847 0 1 "" nsv5886854 1 20191009 20191173 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17357328 M 914 1 0 "" nsv4043381 1 20191009 20191174 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966053 M 10847 1 0 "" nsv4460415 1 20196850 20196851 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026614 M 10847 1 0 "" nsv6053337 1 20196861 20196861 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522823 M 405 1 0 "" esv3663540 1 20197834 20197834 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486390 M 20 1 0 "" esv3663548 1 20198157 20198157 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486397 M 20 1 0 "" nsv4748393 1 20198245 20198393 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273336 M 25 0 1 "" nsv5874744 1 20199240 20199291 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362416 M 914 0 1 "" nsv6043279 1 20200611 20200611 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517756 M 405 1 0 "" nsv6332410 1 20202326 20225524 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056817 M 19652 0 1 OTUD3 nsv6332591 1 20206373 20213842 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202326 M 19652 1 0 OTUD3 nsv4050867 1 20211070 20213469 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848837 M 10847 0 1 OTUD3 nsv4460551 1 20221478 20221479 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026621 M 10847 1 0 OTUD3 nsv5982493 1 20224549 20227508 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522112 M 405 0 1 OTUD3 nsv6318097 1 20224580 20227480 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056853 M 19652 0 1 OTUD3 nsv6551713 1 20224597 20225021 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248211 M 19652 0 0 OTUD3 nsv4037202 1 20226269 20229637 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848838 M 10847 0 1 OTUD3 nsv6324087 1 20226269 20229637 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056856 M 19652 0 1 OTUD3 nsv4047427 1 20230947 20231055 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848839 M 10847 0 1 OTUD3 nsv460717 1 20236731 20250799 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537249 M 1557 0 1 OTUD3,PLA2G2E NINDS_168 nsv545730 1 20236731 20250799 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173791 M 17421 0 1 OTUD3,PLA2G2E NINDS_168 nsv6334512 1 20237025 20246956 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056870 M 19652 0 1 OTUD3,PLA2G2E nsv4037921 1 20254000 20259100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848840 M 10847 0 1 "" nsv3522771 1 20257082 20257082 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438803 M 9 1 0 "" HG00733 nsv5608618 1 20257082 20257082 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062371 M 35 1 0 "" HG00732 nsv5952153 1 20257082 20257082 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17365276 M 914 1 0 "" nsv4533583 1 20257082 20257083 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026629 M 10847 1 0 "" nsv3320873 1 20257083 20257083 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14487213,nssv14483776 M 14 2 0 "" HG00733,HG02106 esv3355181 1 20257083 20257101 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898729,essv8898741,essv8898730,essv8898738,essv8898733,essv8898732,essv8898739,essv8898731,essv8898737,essv8898740,essv8898734,essv8898735 M 185 12 0 "" NA06986,NA07357,NA11830,NA11881,NA12154,NA12249,NA12717,NA18571,NA18593,NA18603,NA18609,NA18948 nsv3064049 1 20257085 20257085 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035335 M 2 1 0 "" NA12878 nsv6049556 1 20257088 20257088 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536153 M 405 1 0 "" nsv3561320 1 20257098 20257098 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14352873,nssv14352872 M 9 2 0 "" HG00732,HG00733 nsv5677696 1 20257098 20257098 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17181903,nssv17205679 M 3202 2 0 "" nsv6256744 1 20257098 20257098 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857393 M 1021 1 0 "" nsv5399102 1 20257098 20257149 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902263 M 3202 1 0 "" dgv22e212 1 20257782 20271698 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577765,esv3577766,esv3577767,esv3577768 M 873 0 18 "" 400295PS,400523GB,400730SH,400855BD,400859SC,400871CM,401091HS,401184MM,401308LD,401333MM,401414CR,401434VN,401475MK,401503MJ,401875FG,401900RJ,402019MC,402038MR esv2564092 1 20258605 20259713 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5284149 M 1 1 0 "" NA18507 nsv4444793 1 20259338 20259338 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757594 M 1 1 0 "" nsv5952697 1 20259392 20259392 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351035 M 914 1 0 "" nsv3561617 1 20259421 20259421 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14352914,nssv14352917,nssv14352916,nssv14352918,nssv14352915,nssv14352913 M 9 6 0 "" HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3670872 1 20259424 20259424 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492990 M 20 1 0 "" nsv3537044 1 20259424 20259424 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387693,nssv14438804,nssv14413788 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3940851 1 20259424 20259424 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192624 M 1 1 0 "" HG002 nsv5609296 1 20259424 20259424 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062372 M 35 1 0 "" HG00731 nsv6046198 1 20259424 20259424 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526012 M 405 1 0 "" nsv2801253 1 20259425 20259425 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13710276 M 2 1 0 "" nsv3320874 1 20259425 20259425 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488899,nssv14475867,nssv14480043,nssv14479882,nssv14478663,nssv14491423,nssv14487807,nssv14481409,nssv14472865,nssv14489425,nssv14489467,nssv14472439,nssv14490732,nssv14485887 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4046990 1 20264991 20276861 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966055 M 10847 1 0 "" nsv6322538 1 20272297 20296485 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202333 M 19652 1 0 "" nsv5948621 1 20278431 20278431 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360923 M 914 1 0 "" nsv6334355 1 20279895 20282466 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056536 M 19652 0 1 "" dgv27e199 1 20286437 20288670 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2660117,esv2673958 M 1151 0 2 "" NA18984,NA19007 nsv5885649 1 20286462 20288568 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349865 M 914 0 1 "" nsv5982173 1 20286462 20288569 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528967 M 405 0 1 "" nsv4390885 1 20286463 20288569 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15704737 M 174 0 1 "" nsv5422642 1 20286464 20288569 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902266 M 3202 0 1 "" nsv5950212 1 20297300 20297300 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361305 M 914 1 0 "" nsv5680423 1 20297315 20297315 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17179808 M 3202 1 0 "" nsv6323240 1 20300390 20302340 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056562 M 19652 0 1 PLA2G2A nsv4040027 1 20301167 20316112 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966056 M 10847 1 0 PLA2G2A nsv6321566 1 20302809 20305387 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056564 M 19652 0 1 PLA2G2A nsv527818 1 20305887 20380145 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv704313 M 2026 1 0 PLA2G2A nsv6326700 1 20306176 20312716 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056571 M 19652 0 1 PLA2G2A esv3585409 1 20310746 20312032 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879570,essv9879572,essv9879571 M 2504 0 3 "" HG03117,HG03157,NA18939 nsv5432174 1 20310748 20312043 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902267 M 3202 0 1 "" nsv545731 1 20315599 21102799 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711285 M 17421 1 0 CAMK2N1,CDA,DDOST,FAM43B,HP1BP3,KIF17,LINC01141,MIR6084,MUL1,PINK1,PLA2G2C,PLA2G2D,PLA2G2F,PLA2G5,SH2D5,UBXN10,VWA5B1 nsv5618741 1 20317995 20317995 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062386 M 35 1 0 "" HG02818 nsv5676971 1 20317995 20317995 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17180858 M 3202 1 0 "" nsv5961857 1 20317995 20317995 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352924 M 914 1 0 "" nsv4565810 1 20317995 20317996 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026640 M 10847 1 0 "" nsv3321492 1 20317996 20317996 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477016,nssv14482175 M 14 2 0 "" HG02818,NA19434 nsv5684793 1 20317999 20317999 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205680 M 3202 1 0 "" nsv5407131 1 20318009 20318046 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902269 M 3202 1 0 "" nsv5681702 1 20321732 20321732 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205681,nssv17181169 M 3202 2 0 "" nsv5398289 1 20321732 20321783 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902271 M 3202 1 0 "" nsv6322250 1 20323994 20330193 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056579 M 19652 0 1 "" nsv4459907 1 20324077 20324078 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026650 M 10847 1 0 "" nsv6055010 1 20324084 20324084 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529629 M 405 1 0 "" nsv5679479 1 20324092 20324092 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17181961 M 3202 1 0 "" nsv6256845 1 20324092 20324092 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857427 M 1021 1 0 "" nsv4460202 1 20324092 20324093 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026659 M 10847 1 0 "" nsv5403480 1 20324092 20324143 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902273 M 3202 1 0 "" nsv4041360 1 20324629 20330976 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966057 M 10847 1 0 "" esv3585411 1 20326019 20328609 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879586,essv9879585 M 2504 0 2 "" HG02150,NA20803 nsv5870736 1 20326050 20328580 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353863 M 914 0 1 "" nsv5828851 1 20326051 20328604 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462281 M 914 0 0 "" nsv4048400 1 20326052 20328581 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848841 M 10847 0 1 "" nsv5431743 1 20326052 20328581 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902274 M 3202 0 1 "" nsv6332220 1 20326052 20328581 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056580 M 19652 0 1 "" nsv4050300 1 20326200 20336956 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966058 M 10847 1 0 "" nsv4460422 1 20326749 20326750 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026670 M 10847 1 0 "" nsv5678795 1 20326767 20326767 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17181275,nssv17205682 M 3202 2 0 "" nsv5412714 1 20326767 20326818 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902275 M 3202 1 0 "" nsv5881647 1 20328454 20329230 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356969 M 914 0 1 "" nsv5418467 1 20346458 20351290 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902276 M 3202 0 1 "" nsv6330556 1 20346458 20351290 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056588 M 19652 0 1 "" esv3585412 1 20346511 20351282 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879587 M 2504 0 1 "" HG02979 nsv4049467 1 20347574 20356697 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966059 M 10847 1 0 "" nsv6321740 1 20347635 20356694 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202341 M 19652 1 0 "" nsv5420868 1 20347635 20356697 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901006 M 3202 1 0 "" nsv6327598 1 20349773 20352987 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056889 M 19652 0 1 "" nsv4460425 1 20362907 20362908 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026681 M 10847 1 0 "" nsv4460426 1 20378128 20378129 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026692 M 10847 1 0 "" nsv4560729 1 20378166 20405412 OTHER inversion gnomAD_Structural_Variants 32461652 Sequencing nssv16090142 M 10847 0 0 PLA2G5 nsv6334562 1 20384283 20387432 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056900 M 19652 0 1 "" nsv1003802 1 20384428 20480840 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700851 M 11257 0 1 PLA2G2D,PLA2G2F,PLA2G5 nsv6544252 1 20385633 20386791 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248270 M 19652 0 0 "" nsv6539450 1 20386954 20388055 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248273 M 19652 0 0 "" nsv4459911 1 20391590 20391591 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026702 M 10847 1 0 "" nsv4049556 1 20394850 20394902 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848842 M 10847 0 1 "" nsv6327642 1 20395067 20402405 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056908 M 19652 0 1 PLA2G5 nsv5885686 1 20397341 20397420 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352912 M 914 0 1 PLA2G5 nsv4390886 1 20397342 20397421 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15704848 M 174 0 1 PLA2G5 nsv5429488 1 20397345 20397421 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901007 M 3202 0 1 PLA2G5 nsv5520 1 20397546 20442471 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5380 M 9 0 1 PLA2G2D,PLA2G5 NA19129 nsv5416159 1 20398603 20402423 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901008 M 3202 0 1 PLA2G5 nsv6335507 1 20398697 20400858 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056909 M 19652 0 1 PLA2G5 nsv6324102 1 20406188 20406606 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056915 M 19652 0 1 PLA2G5 esv2435763 1 20406348 20411107 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5290042 M 1 0 1 PLA2G5 NA18507 dgv111n223 1 20406394 20410687 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6323681,nsv6329304 M 19652 0 2 PLA2G5 nsv5428507 1 20406781 20410687 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901009 M 3202 0 1 PLA2G5 esv2164449 1 20406962 20410799 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4803624 M 1 0 1 PLA2G5 NA18507 nsv6325920 1 20406978 20414525 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056917 M 19652 0 1 PLA2G5 nsv5572197 1 20407081 20408344 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062395 M 35 0 1 PLA2G5 HG03125 esv2665474 1 20407085 20410687 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6515285,essv6291991,essv5760173,essv5821285,essv5474749,essv5835649,essv6145917,essv6533474,essv5837270 M 1151 0 9 PLA2G5 NA18517,NA18871,NA19129,NA19190,NA19248,NA19390,NA19463,NA19654,NA19900 nsv5887530 1 20407090 20410686 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353540 M 914 0 1 PLA2G5 nsv4516923 1 20407097 20410687 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848843 M 10847 0 1 PLA2G5 esv25446 1 20407098 20410672 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv21099 M 40 0 3 PLA2G5 NA18517,NA19129,NA19190 esv3585413 1 20407144 20410753 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879591,essv9879614,essv9879589,essv9879598,essv9879590,essv9879617,essv9879592,essv9879600,essv9879621,essv9879635,essv9879619,essv9879622,essv9879628,essv9879599,essv9879636,essv9879613,essv9879630,essv9879618,essv9879623,essv9879604,essv9879624,essv9879593,essv9879629,essv9879612,essv9879631,essv9879616,essv9879627,essv9879602,essv9879632,essv9879601,essv9879626,essv9879611,essv9879625,essv9879594,essv9879633,essv9879608,essv9879634,essv9879609,essv9879638,essv9879595,essv9879637,essv9879596,essv9879641,essv9879620,essv9879640,essv9879607,essv9879639,essv9879610,essv9879588,essv9879615,essv9879605,essv9879603,essv9879597,essv9879606 M 2504 0 54 PLA2G5 HG01524,HG01882,HG01915,HG02052,HG02465,HG02536,HG02573,HG02582,HG02595,HG02623,HG02646,HG02703,HG02721,HG02759,HG02763,HG02820,HG02941,HG02946,HG03025,HG03027,HG03073,HG03077,HG03084,HG03097,HG03115,HG03123,HG03136,HG03240,HG03246,HG03247,HG03363,HG03382,HG03439,HG03517,HG03558,NA18507,NA18517,NA18871,NA18877,NA18881,NA18924,NA19129,NA19137,NA19190,NA19200,NA19201,NA19209,NA19248,NA19318,NA19390,NA19399,NA19463,NA19654,NA19900 nsv5829081 1 20407168 20410717 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463762 M 914 0 0 PLA2G5 nsv519515 1 20408181 20409374 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv693891,nssv674889,nssv689562,nssv656533 M 2026 0 4 PLA2G5 nsv5567773 1 20408413 20410686 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062402 M 35 0 1 PLA2G5 HG03125 nsv5828855 1 20408618 20410717 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464919,nssv17466569 M 914 0 0 PLA2G5 nsv5687668 1 20412777 20412777 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17180871 M 3202 1 0 PLA2G5 nsv5410389 1 20412777 20412828 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901011 M 3202 1 0 PLA2G5 esv3663563 1 20414795 20414795 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486410 M 20 1 0 PLA2G5 nsv4034502 1 20415451 20415523 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848844 M 10847 0 1 PLA2G5 nsv5433121 1 20415451 20415523 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901012 M 3202 0 1 PLA2G5 nsv4044347 1 20424921 20428746 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848845 M 10847 0 1 "" nsv6323470 1 20425065 20428081 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056928 M 19652 0 1 "" nsv4047784 1 20428708 20430682 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848846 M 10847 0 1 "" esv1003821 1 20431069 20442978 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564297 M 3 0 1 PLA2G2D HuRef nsv5429437 1 20433828 20437060 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901013 M 3202 0 1 "" nsv5872415 1 20438591 20438725 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369600 M 914 0 1 "" nsv6316669 1 20439194 20443093 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056933 M 19652 0 1 PLA2G2D nsv5414365 1 20448302 20448363 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901014 M 3202 0 1 "" nsv6544680 1 20449378 20450313 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248301 M 19652 0 0 "" nsv4032848 1 20450398 20450450 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848847 M 10847 0 1 "" nsv4041225 1 20453480 20460444 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966060 M 10847 1 0 "" nsv5886496 1 20453538 20460440 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17358033 M 914 1 0 "" nsv6328255 1 20453538 20460441 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201810 M 19652 1 0 "" nsv5424205 1 20453538 20460444 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901015 M 3202 1 0 "" nsv5828857 1 20454714 20460145 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456773 M 914 0 0 "" nsv4045392 1 20461006 20464226 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848848 M 10847 0 1 "" nsv6321724 1 20464005 20471568 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201811 M 19652 1 0 PLA2G2F nsv5420286 1 20464005 20471570 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901017 M 3202 1 0 PLA2G2F nsv4049801 1 20465676 20465774 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848849 M 10847 0 1 "" nsv3196042 1 20475244 20479743 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14352949,nssv14352951,nssv14352947,nssv14352945,nssv14352952,nssv14352946,nssv14352948,nssv14352944,nssv14352950 M 9 0 9 PLA2G2F HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3585414 1 20475427 20476933 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9879642 M 2504 0 1 PLA2G2F HG03279 nsv5418183 1 20475481 20476893 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901018 M 3202 0 1 PLA2G2F nsv5623991 1 20475786 20475786 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062416 M 35 1 0 PLA2G2F HG02818 nsv5417363 1 20477267 20477449 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901019 M 3202 1 0 "" nsv945810 1 20479135 20488369 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1755438,nssv1755678,nssv1755445,nssv1755693,nssv1755444,nssv1755713,nssv1763202,nssv1755712,nssv1755436,nssv1755689,nssv1755437,nssv1763210,nssv1755677,nssv1755692,nssv1763203,nssv1763212,nssv1755675,nssv1755679,nssv1755439,nssv1755714,nssv1755668,nssv1755698,nssv1755660,nssv1755695,nssv1755664,nssv1755685,nssv1755676,nssv1755700,nssv1755449,nssv1755702,nssv1755657,nssv1755708,nssv1755667,nssv1763208,nssv1763200,nssv1755688,nssv1755656,nssv1755683,nssv1763201,nssv1755690,nssv1755447,nssv1755711,nssv1755719,nssv1755687,nssv1755720,nssv1763206,nssv1755448,nssv1755680,nssv1755446,nssv1763207,nssv1755443,nssv1763205,nssv1763199,nssv1755684,nssv1755672,nssv1755710,nssv1755659,nssv1763211,nssv1755658,nssv1755705,nssv1755663,nssv1755703,nssv1755661,nssv1755694,nssv1755450,nssv1755704,nssv1755440,nssv1755709,nssv1755442,nssv1755706,nssv1755669,nssv1755691,nssv1763198,nssv1755686,nssv1755665,nssv1763213,nssv1755674,nssv1763204,nssv1755670,nssv1755701,nssv1755441,nssv1755681,nssv1755717,nssv1755716,nssv1755662,nssv1763209,nssv1755671,nssv1755697,nssv1755673,nssv1755707,nssv1755435,nssv1755696,nssv1755718,nssv1755699,nssv1755666,nssv1755715,nssv1755682 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6329411 1 20487134 20489506 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056639 M 19652 0 1 "" nsv4047023 1 20489849 20542174 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966061 M 10847 1 0 PLA2G2C,UBXN10 esv2606339 1 20496809 20498171 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5295790 M 1 0 1 PLA2G2C NA18507 esv3585415 1 20496899 20497748 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9880334,essv9880121,essv9880228,essv9880080,essv9880226,essv9880093,essv9880182,essv9880026,essv9880152,essv9880100,essv9880197,essv9880118,essv9880155,essv9880001,essv9880125,essv9880075,essv9880248,essv9880112,essv9880202,essv9880011,essv9880282,essv9880013,essv9880124,essv9879970,essv9880281,essv9880064,essv9880236,essv9880003,essv9880252,essv9880072,essv9880145,essv9880012,essv9880273,essv9880110,essv9880213,essv9880120,essv9880230,essv9879965,essv9880278,essv9880052,essv9880239,essv9880069,essv9880176,essv9880117,essv9880183,essv9879978,essv9880172,essv9879974,essv9880143,essv9879991,essv9880286,essv9880061,essv9880322,essv9880071,essv9880148,essv9880031,essv9880165,essv9880101,essv9880122,essv9879963,essv9880173,essv9880105,essv9880138,essv9879941,essv9880232,essv9880077,essv9880180,essv9879971,essv9880190,essv9879973,essv9880136,essv9879969,essv9880217,essv9879966,essv9880302,essv9880010,essv9880326,essv9880040,essv9880179,essv9880106,essv9880223,essv9880005,essv9880296,essv9879983,essv9880167,essv9880098,essv9880208,essv9880009,essv9880240,essv9880006,essv9880331,essv9880029,essv9880324,essv9880044,essv9880154,essv9880022,essv9880134,essv9880097,essv9880304,essv9880056,essv9880292,essv9880078,essv9880279,essv9880062,essv9880160,essv9880074,essv9880272,essv9879997,essv9880246,essv9880039,essv9880263,essv9880115,essv9880266,essv9879950,essv9880153,essv9879942,essv9880147,essv9880068,essv9880317,essv9880059,essv9880128,essv9880109,essv9880184,essv9879964,essv9880298,essv9880018,essv9880157,essv9879982,essv9880267,essv9880094,essv9880177,essv9880021,essv9880269,essv9880085,essv9880161,essv9880007,essv9880166,essv9879952,essv9880215,essv9879989,essv9880171,essv9880023,essv9880288,essv9880017,essv9880308,essv9879962,essv9880204,essv9880048,essv9880258,essv9880103,essv9880328,essv9879990,essv9880309,essv9880070,essv9880187,essv9880020,essv9880333,essv9880083,essv9880181,essv9879943,essv9880137,essv9880107,essv9880229,essv9879987,essv9880306,essv9880043,essv9880185,essv9880025,essv9880141,essv9880027,essv9880158,essv9879953,essv9880198,essv9879954,essv9880271,essv9879946,essv9880130,essv9880047,essv9880186,essv9880060,essv9880301,essv9880030,essv9880151,essv9880073,essv9880174,essv9879958,essv9880310,essv9880028,essv9880316,essv9879967,essv9880318,essv9880008,essv9880220,essv9880058,essv9880238,essv9880099,essv9880126,essv9880004,essv9880253,essv9879996,essv9880257,essv9879980,essv9880241,essv9880086,essv9880287,essv9880036,essv9880332,essv9879972,essv9880285,essv9880102,essv9880175,essv9880076,essv9880250,essv9879994,essv9880242,essv9880042,essv9880321,essv9880051,essv9880129,essv9880049,essv9880231,essv9880096,essv9880205,essv9880019,essv9880207,essv9880113,essv9880211,essv9879995,essv9880313,essv9879999,essv9880275,essv9880054,essv9880299,essv9880081,essv9880169,essv9879961,essv9880214,essv9880092,essv9880162,essv9879968,essv9880237,essv9880014,essv9880300,essv9880055,essv9880270,essv9880089,essv9880320,essv9880111,essv9880188,essv9880114,essv9880203,essv9880002,essv9880303,essv9879957,essv9880290,essv9880046,essv9880139,essv9879979,essv9880276,essv9880088,essv9880254,essv9879984,essv9880227,essv9880084,essv9880284,essv9879960,essv9880132,essv9879993,essv9880325,essv9879947,essv9880193,essv9880065,essv9880314,essv9879998,essv9880149,essv9879944,essv9880243,essv9880087,essv9880194,essv9879981,essv9880260,essv9879975,essv9880150,essv9879948,essv9880224,essv9880038,essv9880233,essv9879956,essv9880323,essv9880066,essv9880218,essv9880067,essv9880329,essv9880035,essv9880212,essv9880108,essv9880189,essv9880090,essv9880249,essv9880016,essv9880251,essv9880000,essv9880196,essv9879945,essv9880319,essv9880045,essv9880219,essv9879977,essv9880221,essv9880033,essv9880146,essv9880104,essv9880127,essv9880015,essv9880295,essv9879949,essv9880265,essv9880082,essv9880163,essv9879955,essv9880327,essv9879988,essv9880261,essv9880057,essv9880244,essv9880032,essv9880277,essv9880037,essv9880210,essv9880024,essv9880191,essv9880095,essv9880235,essv9880053,essv9880192,essv9879986,essv9880305,essv9879976,essv9880293,essv9880116,essv9880315,essv9879992,essv9880200,essv9879985,essv9880291,essv9880050,essv9880294,essv9880034,essv9880259,essv9880041,essv9880268,essv9880063,essv9880206,essv9880079,essv9880168,essv9879951,essv9880140,essv9880119,essv9880131,essv9880091,essv9880283,essv9879959,essv9880245,essv9879940,essv9879799,essv9880216,essv9879847,essv9879757,essv9880225,essv9879913,essv9879745,essv9880164,essv9879900,essv9879762,essv9880262,essv9879912,essv9879718,essv9880247,essv9879919,essv9879720,essv9880307,essv9879824,essv9879782,essv9880199,essv9879850,essv9879797,essv9880274,essv9879872,essv9879812,essv9880264,essv9879861,essv9879749,essv9880156,essv9879910,essv9879819,essv9880142,essv9879908,essv9879721,essv9880297,essv9879838,essv9879736,essv9880280,essv9879856,essv9879801,essv9880311,essv9879876,essv9879761,essv9880209,essv9879902,essv9879798,essv9880256,essv9879844,essv9879811,essv9880195,essv9879892,essv9879751,essv9880135,essv9879928,essv9879726,essv9880234,essv9879895,essv9879759,essv9880330,essv9879870,essv9879766,essv9880170,essv9879862,essv9879760,essv9880133,essv9879897,essv9879717,essv9880201,essv9879937,essv9879765,essv9880312,essv9879874,essv9879809,essv9880178,essv9879854,essv9879808,essv9880123,essv9879865,essv9879744,essv9880289,essv9879929,essv9879729,essv9880144,essv9879906,essv9879747,essv9880222,essv9879855,essv9879802,essv9880255,essv9879893,essv9879783,essv9880159,essv9879873,essv9879763,essv9879846,essv9879768,essv9879920,essv9879784,essv9879888,essv9879781,essv9879867,essv9879800,essv9879866,essv9879746,essv9879841,essv9879737,essv9879858,essv9879821,essv9879851,essv9879818,essv9879916,essv9879752,essv9879899,essv9879771,essv9879869,essv9879785,essv9879877,essv9879791,essv9879852,essv9879748,essv9879826,essv9879786,essv9879859,essv9879793,essv9879932,essv9879792,essv9879864,essv9879727,essv9879886,essv9879776,essv9879939,essv9879739,essv9879898,essv9879813,essv9879915,essv9879714,essv9879894,essv9879790,essv9879911,essv9879770,essv9879843,essv9879774,essv9879914,essv9879764,essv9879823,essv9879772,essv9879918,essv9879815,essv9879883,essv9879716,essv9879891,essv9879733,essv9879882,essv9879779,essv9879881,essv9879728,essv9879875,essv9879767,essv9879936,essv9879730,essv9879930,essv9879750,essv9879931,essv9879719,essv9879885,essv9879769,essv9879848,essv9879805,essv9879829,essv9879773,essv9879922,essv9879807,essv9879839,essv9879753,essv9879828,essv9879814,essv9879921,essv9879804,essv9879901,essv9879731,essv9879934,essv9879756,essv9879917,essv9879734,essv9879935,essv9879787,essv9879871,essv9879788,essv9879842,essv9879817,essv9879904,essv9879732,essv9879926,essv9879794,essv9879833,essv9879820,essv9879836,essv9879755,essv9879853,essv9879725,essv9879857,essv9879715,essv9879840,essv9879795,essv9879907,essv9879777,essv9879863,essv9879778,essv9879822,essv9879722,essv9879924,essv9879796,essv9879933,essv9879713,essv9879845,essv9879743,essv9879878,essv9879738,essv9879909,essv9879740,essv9879890,essv9879723,essv9879879,essv9879803,essv9879835,essv9879724,essv9879887,essv9879816,essv9879837,essv9879810,essv9879927,essv9879754,essv9879896,essv9879789,essv9879825,essv9879775,essv9879884,essv9879780,essv9879830,essv9879742,essv9879832,essv9879758,essv9879849,essv9879806,essv9879880,essv9879735,essv9879860,essv9879741,essv9879905,essv9880580,essv9879831,essv9880557,essv9879834,essv9880490,essv9879925,essv9880485,essv9879903,essv9880600,essv9879923,essv9880505,essv9879889,essv9880540,essv9879827,essv9880615,essv9879938,essv9880558,essv9879868,essv9880537,essv9879701,essv9880474,essv9879659,essv9880588,essv9879660,essv9880538,essv9879693,essv9880523,essv9879661,essv9880489,essv9879707,essv9880586,essv9879662,essv9880565,essv9879663,essv9880550,essv9879664,essv9880487,essv9879658,essv9880493,essv9879665,essv9880503,essv9879666,essv9880560,essv9879667,essv9880522,essv9879668,essv9880464,essv9879669,essv9880573,essv9879694,essv9880602,essv9879711,essv9880606,essv9879706,essv9880517,essv9879670,essv9880514,essv9879671,essv9880491,essv9879699,essv9880563,essv9879672,essv9880482,essv9879702,essv9880572,essv9879643,essv9880553,essv9879644,essv9880461,essv9879709,essv9880518,essv9879696,essv9880525,essv9879645,essv9880589,essv9879673,essv9880561,essv9879674,essv9880549,essv9879646,essv9880570,essv9879675,essv9880501,essv9879708,essv9880530,essv9879676,essv9880477,essv9879677,essv9880577,essv9879700,essv9880590,essv9879703,essv9880555,essv9879647,essv9880581,essv9879678,essv9880584,essv9879698,essv9880475,essv9879648,essv9880486,essv9879710,essv9880610,essv9879679,essv9880597,essv9879680,essv9880473,essv9879649,essv9880608,essv9879681,essv9880552,essv9879682,essv9880463,essv9879683,essv9880551,essv9879684,essv9880479,essv9879650,essv9880512,essv9879685,essv9880591,essv9879686,essv9880470,essv9879651,essv9880569,essv9879652,essv9880604,essv9879687,essv9880611,essv9879712,essv9880571,essv9879688,essv9880472,essv9879653,essv9880471,essv9879689,essv9880528,essv9879654,essv9880500,essv9879697,essv9880595,essv9879655,essv9880483,essv9879704,essv9880462,essv9879656,essv9880582,essv9879690,essv9880495,essv9879695,essv9880466,essv9879692,essv9880515,essv9879657,essv9880564,essv9879691,essv9880536,essv9879705,essv9880476,essv9880460,essv9880598,essv9880367,essv9880556,essv9880438,essv9880566,essv9880388,essv9880618,essv9880419,essv9880507,essv9880434,essv9880568,essv9880341,essv9880543,essv9880349,essv9880542,essv9880400,essv9880554,essv9880338,essv9880546,essv9880402,essv9880532,essv9880445,essv9880601,essv9880449,essv9880520,essv9880429,essv9880519,essv9880374,essv9880535,essv9880377,essv9880496,essv9880390,essv9880526,essv9880355,essv9880516,essv9880437,essv9880480,essv9880395,essv9880484,essv9880369,essv9880559,essv9880416,essv9880502,essv9880387,essv9880527,essv9880435,essv9880481,essv9880433,essv9880539,essv9880418,essv9880513,essv9880362,essv9880509,essv9880446,essv9880544,essv9880371,essv9880533,essv9880394,essv9880594,essv9880444,essv9880621,essv9880411,essv9880504,essv9880439,essv9880541,essv9880348,essv9880613,essv9880409,essv9880497,essv9880422,essv9880467,essv9880442,essv9880599,essv9880386,essv9880524,essv9880417,essv9880531,essv9880379,essv9880576,essv9880420,essv9880619,essv9880392,essv9880585,essv9880381,essv9880587,essv9880354,essv9880511,essv9880452,essv9880521,essv9880339,essv9880579,essv9880431,essv9880499,essv9880456,essv9880468,essv9880455,essv9880494,essv9880353,essv9880575,essv9880358,essv9880612,essv9880414,essv9880607,essv9880383,essv9880548,essv9880343,essv9880498,essv9880447,essv9880510,essv9880426,essv9880583,essv9880342,essv9880492,essv9880457,essv9880534,essv9880427,essv9880592,essv9880415,essv9880614,essv9880372,essv9880478,essv9880364,essv9880617,essv9880406,essv9880596,essv9880347,essv9880609,essv9880393,essv9880506,essv9880370,essv9880567,essv9880360,essv9880547,essv9880350,essv9880603,essv9880440,essv9880529,essv9880410,essv9880545,essv9880405,essv9880578,essv9880396,essv9880562,essv9880404,essv9880616,essv9880363,essv9880574,essv9880357,essv9880620,essv9880413,essv9880508,essv9880408,essv9880593,essv9880412,essv9880488,essv9880423,essv9880465,essv9880451,essv9880469,essv9880450,essv9880605,essv9880389,essv9880448,essv9880366,essv9880398,essv9880443,essv9880356,essv9880337,essv9880352,essv9880403,essv9880424,essv9880430,essv9880441,essv9880399,essv9880391,essv9880345,essv9880397,essv9880340,essv9880453,essv9880432,essv9880375,essv9880368,essv9880454,essv9880378,essv9880382,essv9880407,essv9880351,essv9880380,essv9880365,essv9880421,essv9880425,essv9880361,essv9880459,essv9880428,essv9880384,essv9880376,essv9880344,essv9880336,essv9880373,essv9880385,essv9880359,essv9880335,essv9880458,essv9880436,essv9880401,essv9880346 M 2504 0 979 PLA2G2C HG00097,HG00100,HG00102,HG00103,HG00108,HG00110,HG00113,HG00117,HG00118,HG00120,HG00123,HG00126,HG00127,HG00128,HG00130,HG00133,HG00137,HG00139,HG00142,HG00148,HG00149,HG00150,HG00154,HG00155,HG00157,HG00158,HG00180,HG00186,HG00187,HG00190,HG00240,HG00242,HG00244,HG00245,HG00251,HG00254,HG00259,HG00262,HG00264,HG00265,HG00267,HG00269,HG00272,HG00273,HG00282,HG00284,HG00309,HG00313,HG00323,HG00332,HG00334,HG00339,HG00344,HG00350,HG00357,HG00358,HG00360,HG00364,HG00368,HG00373,HG00381,HG00383,HG00407,HG00422,HG00437,HG00445,HG00446,HG00457,HG00463,HG00464,HG00475,HG00500,HG00524,HG00531,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00560,HG00565,HG00566,HG00584,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00619,HG00629,HG00631,HG00632,HG00640,HG00653,HG00672,HG00675,HG00689,HG00690,HG00692,HG00701,HG00705,HG00729,HG00732,HG00737,HG00742,HG00743,HG00759,HG00864,HG00879,HG01028,HG01031,HG01047,HG01051,HG01054,HG01066,HG01080,HG01088,HG01097,HG01102,HG01105,HG01107,HG01111,HG01130,HG01131,HG01136,HG01140,HG01149,HG01162,HG01170,HG01174,HG01176,HG01177,HG01198,HG01200,HG01204,HG01205,HG01241,HG01251,HG01254,HG01259,HG01260,HG01269,HG01271,HG01302,HG01308,HG01311,HG01326,HG01369,HG01374,HG01384,HG01390,HG01392,HG01393,HG01403,HG01438,HG01441,HG01474,HG01485,HG01486,HG01491,HG01492,HG01504,HG01510,HG01513,HG01530,HG01550,HG01556,HG01571,HG01586,HG01589,HG01593,HG01598,HG01603,HG01608,HG01623,HG01625,HG01631,HG01669,HG01670,HG01675,HG01678,HG01682,HG01684,HG01686,HG01695,HG01697,HG01704,HG01705,HG01747,HG01756,HG01761,HG01766,HG01777,HG01783,HG01806,HG01810,HG01811,HG01840,HG01842,HG01844,HG01845,HG01846,HG01851,HG01852,HG01858,HG01859,HG01864,HG01865,HG01868,HG01869,HG01872,HG01873,HG01878,HG01882,HG01885,HG01890,HG01945,HG01956,HG01958,HG01979,HG01980,HG02006,HG02010,HG02012,HG02016,HG02017,HG02019,HG02026,HG02032,HG02048,HG02049,HG02051,HG02053,HG02057,HG02064,HG02070,HG02072,HG02075,HG02076,HG02078,HG02079,HG02084,HG02090,HG02107,HG02108,HG02111,HG02121,HG02130,HG02137,HG02144,HG02152,HG02153,HG02154,HG02155,HG02166,HG02186,HG02187,HG02190,HG02220,HG02230,HG02231,HG02232,HG02239,HG02255,HG02256,HG02278,HG02281,HG02284,HG02307,HG02308,HG02314,HG02323,HG02330,HG02332,HG02339,HG02345,HG02351,HG02353,HG02367,HG02373,HG02374,HG02383,HG02385,HG02391,HG02392,HG02401,HG02402,HG02420,HG02425,HG02427,HG02429,HG02433,HG02439,HG02450,HG02464,HG02479,HG02481,HG02489,HG02490,HG02493,HG02508,HG02511,HG02513,HG02522,HG02537,HG02541,HG02545,HG02546,HG02554,HG02555,HG02562,HG02568,HG02571,HG02573,HG02574,HG02577,HG02582,HG02585,HG02588,HG02589,HG02594,HG02595,HG02600,HG02603,HG02611,HG02613,HG02620,HG02623,HG02624,HG02629,HG02635,HG02645,HG02646,HG02648,HG02649,HG02654,HG02657,HG02661,HG02679,HG02681,HG02682,HG02684,HG02687,HG02691,HG02694,HG02696,HG02697,HG02699,HG02703,HG02716,HG02721,HG02724,HG02725,HG02727,HG02731,HG02733,HG02736,HG02759,HG02760,HG02763,HG02768,HG02771,HG02774,HG02778,HG02780,HG02783,HG02784,HG02786,HG02789,HG02790,HG02792,HG02793,HG02805,HG02814,HG02817,HG02820,HG02836,HG02837,HG02839,HG02852,HG02854,HG02860,HG02878,HG02879,HG02888,HG02890,HG02891,HG02922,HG02938,HG02941,HG02947,HG02952,HG02976,HG02981,HG02983,HG03006,HG03009,HG03012,HG03015,HG03018,HG03019,HG03021,HG03022,HG03024,HG03025,HG03027,HG03028,HG03040,HG03045,HG03048,HG03049,HG03058,HG03060,HG03061,HG03064,HG03072,HG03077,HG03079,HG03081,HG03084,HG03088,HG03091,HG03095,HG03096,HG03103,HG03105,HG03111,HG03112,HG03117,HG03118,HG03124,HG03126,HG03133,HG03136,HG03139,HG03157,HG03163,HG03172,HG03189,HG03190,HG03209,HG03212,HG03224,HG03225,HG03235,HG03238,HG03241,HG03279,HG03291,HG03294,HG03301,HG03304,HG03343,HG03351,HG03352,HG03354,HG03363,HG03367,HG03370,HG03378,HG03391,HG03397,HG03428,HG03432,HG03433,HG03437,HG03439,HG03445,HG03452,HG03455,HG03461,HG03464,HG03469,HG03470,HG03473,HG03479,HG03485,HG03488,HG03490,HG03499,HG03515,HG03538,HG03556,HG03557,HG03572,HG03575,HG03578,HG03583,HG03585,HG03589,HG03598,HG03603,HG03607,HG03615,HG03624,HG03625,HG03634,HG03636,HG03642,HG03645,HG03646,HG03649,HG03663,HG03668,HG03672,HG03673,HG03679,HG03680,HG03685,HG03687,HG03689,HG03690,HG03691,HG03692,HG03694,HG03695,HG03696,HG03697,HG03698,HG03703,HG03705,HG03706,HG03708,HG03709,HG03711,HG03717,HG03722,HG03729,HG03731,HG03736,HG03738,HG03740,HG03741,HG03742,HG03744,HG03745,HG03750,HG03755,HG03756,HG03757,HG03762,HG03770,HG03771,HG03773,HG03774,HG03775,HG03778,HG03780,HG03781,HG03782,HG03784,HG03786,HG03787,HG03788,HG03790,HG03793,HG03800,HG03802,HG03803,HG03805,HG03809,HG03812,HG03817,HG03821,HG03823,HG03824,HG03826,HG03829,HG03830,HG03832,HG03833,HG03836,HG03837,HG03856,HG03857,HG03861,HG03864,HG03868,HG03869,HG03870,HG03890,HG03894,HG03895,HG03896,HG03897,HG03898,HG03899,HG03902,HG03905,HG03907,HG03910,HG03913,HG03914,HG03916,HG03917,HG03922,HG03925,HG03926,HG03931,HG03937,HG03940,HG03943,HG03944,HG03945,HG03947,HG03949,HG03951,HG03955,HG03963,HG03965,HG03968,HG03969,HG03971,HG03973,HG03976,HG03977,HG03978,HG03986,HG03989,HG03999,HG04001,HG04003,HG04015,HG04018,HG04020,HG04025,HG04029,HG04033,HG04047,HG04054,HG04059,HG04060,HG04061,HG04076,HG04090,HG04099,HG04100,HG04106,HG04107,HG04118,HG04134,HG04141,HG04144,HG04146,HG04153,HG04158,HG04159,HG04161,HG04162,HG04171,HG04173,HG04176,HG04186,HG04188,HG04189,HG04195,HG04198,HG04209,HG04210,HG04216,HG04219,HG04222,HG04227,HG04229,HG04239,NA06994,NA07000,NA07037,NA07051,NA07357,NA11829,NA11832,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11932,NA11994,NA12044,NA12275,NA12341,NA12347,NA12348,NA12399,NA12400,NA12414,NA12489,NA12717,NA12750,NA12751,NA12762,NA12775,NA12778,NA12815,NA12827,NA12842,NA12874,NA18498,NA18502,NA18507,NA18519,NA18520,NA18522,NA18525,NA18526,NA18532,NA18536,NA18539,NA18541,NA18543,NA18559,NA18563,NA18592,NA18593,NA18595,NA18596,NA18597,NA18606,NA18609,NA18621,NA18623,NA18624,NA18626,NA18628,NA18637,NA18642,NA18643,NA18646,NA18648,NA18749,NA18853,NA18856,NA18858,NA18861,NA18865,NA18876,NA18878,NA18881,NA18907,NA18908,NA18912,NA18924,NA18941,NA18942,NA18944,NA18945,NA18952,NA18953,NA18959,NA18963,NA18964,NA18970,NA18979,NA18981,NA18982,NA18987,NA18990,NA18998,NA19001,NA19007,NA19011,NA19012,NA19020,NA19023,NA19025,NA19027,NA19036,NA19037,NA19041,NA19043,NA19059,NA19064,NA19074,NA19075,NA19077,NA19080,NA19086,NA19093,NA19096,NA19098,NA19114,NA19130,NA19131,NA19137,NA19138,NA19141,NA19144,NA19146,NA19152,NA19153,NA19159,NA19172,NA19184,NA19185,NA19190,NA19201,NA19213,NA19214,NA19225,NA19235,NA19236,NA19238,NA19239,NA19257,NA19309,NA19310,NA19316,NA19317,NA19320,NA19323,NA19327,NA19351,NA19360,NA19372,NA19374,NA19376,NA19377,NA19378,NA19383,NA19384,NA19393,NA19394,NA19397,NA19399,NA19403,NA19404,NA19431,NA19435,NA19436,NA19440,NA19445,NA19446,NA19449,NA19452,NA19455,NA19456,NA19457,NA19462,NA19466,NA19472,NA19657,NA19658,NA19664,NA19669,NA19700,NA19701,NA19704,NA19707,NA19713,NA19717,NA19720,NA19725,NA19731,NA19750,NA19776,NA19779,NA19818,NA19834,NA19901,NA19914,NA19920,NA19982,NA19984,NA20127,NA20276,NA20278,NA20281,NA20298,NA20318,NA20332,NA20339,NA20342,NA20356,NA20357,NA20503,NA20513,NA20514,NA20518,NA20521,NA20525,NA20533,NA20535,NA20542,NA20543,NA20582,NA20589,NA20752,NA20755,NA20756,NA20760,NA20761,NA20764,NA20766,NA20768,NA20770,NA20771,NA20775,NA20778,NA20783,NA20795,NA20796,NA20798,NA20801,NA20802,NA20807,NA20808,NA20811,NA20812,NA20813,NA20814,NA20818,NA20826,NA20827,NA20828,NA20832,NA20845,NA20850,NA20851,NA20852,NA20856,NA20858,NA20859,NA20861,NA20862,NA20864,NA20868,NA20872,NA20874,NA20875,NA20876,NA20878,NA20881,NA20882,NA20884,NA20886,NA20888,NA20889,NA20892,NA20894,NA20895,NA20897,NA20899,NA20900,NA20901,NA20902,NA20905,NA20906,NA20908,NA20910,NA21086,NA21088,NA21089,NA21090,NA21092,NA21093,NA21094,NA21095,NA21097,NA21098,NA21100,NA21104,NA21105,NA21108,NA21109,NA21111,NA21114,NA21115,NA21117,NA21119,NA21124,NA21130,NA21135,NA21137,NA21141,NA21142 esv2380061 1 20497001 20497921 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4621106 M 1 0 1 PLA2G2C NA18507 esv3553899 1 20497117 20497748 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9752646 M 767 0 1 PLA2G2C esv3585416 1 20497183 20497735 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9881345,essv9881479,essv9881268,essv9881448,essv9881165,essv9881460,essv9881154,essv9881389,essv9881155,essv9881403,essv9881294,essv9881444,essv9881258,essv9881358,essv9881186,essv9881462,essv9881147,essv9881427,essv9881196,essv9881368,essv9881220,essv9881441,essv9881199,essv9881390,essv9881218,essv9881471,essv9881185,essv9881370,essv9881207,essv9881385,essv9881148,essv9881475,essv9881266,essv9881395,essv9881172,essv9881405,essv9881157,essv9881407,essv9881127,essv9881415,essv9881216,essv9881459,essv9881295,essv9881454,essv9881160,essv9881364,essv9881187,essv9881439,essv9881201,essv9881476,essv9881141,essv9881478,essv9881129,essv9881417,essv9881166,essv9881352,essv9881205,essv9881447,essv9881282,essv9881431,essv9881300,essv9881410,essv9881267,essv9881382,essv9881156,essv9881452,essv9881190,essv9881468,essv9881212,essv9881384,essv9881126,essv9881472,essv9881319,essv9881442,essv9881197,essv9881383,essv9881237,essv9881461,essv9881130,essv9881402,essv9881276,essv9881421,essv9881270,essv9881470,essv9881161,essv9881396,essv9881179,essv9881350,essv9881133,essv9881401,essv9881198,essv9881367,essv9881163,essv9881473,essv9881124,essv9881411,essv9881202,essv9881429,essv9881322,essv9881363,essv9881174,essv9881453,essv9881305,essv9881457,essv9881239,essv9881366,essv9881152,essv9881394,essv9881265,essv9881430,essv9881181,essv9881420,essv9881236,essv9881391,essv9881175,essv9881426,essv9881264,essv9881422,essv9881138,essv9881399,essv9881334,essv9881349,essv9881303,essv9881449,essv9881323,essv9881414,essv9881122,essv9881355,essv9881259,essv9881386,essv9881290,essv9881374,essv9881293,essv9881428,essv9881184,essv9881376,essv9881146,essv9881359,essv9881238,essv9881436,essv9881326,essv9881465,essv9881301,essv9881381,essv9881137,essv9881392,essv9881145,essv9881409,essv9881327,essv9881371,essv9881280,essv9881365,essv9881123,essv9881423,essv9881320,essv9881353,essv9881336,essv9881440,essv9881250,essv9881443,essv9881285,essv9881456,essv9881311,essv9881435,essv9881260,essv9881432,essv9881343,essv9881464,essv9881288,essv9881446,essv9881245,essv9881458,essv9881170,essv9881397,essv9881281,essv9881412,essv9881310,essv9881404,essv9881342,essv9881425,essv9881235,essv9881379,essv9881339,essv9881477,essv9881307,essv9881433,essv9881139,essv9881419,essv9881315,essv9881424,essv9881162,essv9881348,essv9881284,essv9881413,essv9881333,essv9881373,essv9881221,essv9881356,essv9881183,essv9881388,essv9881253,essv9881393,essv9881262,essv9881362,essv9881298,essv9881375,essv9881159,essv9881445,essv9881195,essv9881398,essv9881251,essv9881372,essv9881330,essv9881418,essv9881214,essv9881406,essv9881308,essv9881469,essv9881248,essv9881467,essv9881168,essv9881434,essv9881332,essv9881451,essv9881232,essv9881357,essv9881194,essv9881346,essv9881178,essv9881450,essv9881143,essv9881437,essv9881233,essv9881463,essv9881193,essv9881347,essv9881279,essv9881378,essv9881242,essv9881438,essv9881335,essv9881361,essv9881134,essv9881377,essv9881287,essv9881400,essv9881249,essv9881416,essv9881274,essv9881380,essv9881241,essv9881466,essv9881167,essv9881408,essv9881227,essv9881474,essv9881188,essv9881387,essv9881247,essv9881354,essv9881164,essv9881369,essv9881150,essv9881360,essv9881302,essv9881351,essv9881228,essv9881455,essv9881306,essv9880981,essv9881550,essv9881215,essv9881120,essv9881494,essv9881225,essv9881049,essv9881580,essv9881275,essv9881116,essv9881515,essv9881278,essv9881043,essv9881552,essv9881246,essv9881070,essv9881573,essv9881229,essv9881081,essv9881634,essv9881318,essv9880952,essv9881541,essv9881144,essv9881029,essv9881621,essv9881337,essv9880974,essv9881559,essv9881222,essv9881038,essv9881615,essv9881256,essv9881044,essv9881507,essv9881211,essv9881066,essv9881546,essv9881309,essv9881109,essv9881587,essv9881176,essv9881119,essv9881489,essv9881289,essv9880927,essv9881632,essv9881171,essv9880995,essv9881579,essv9881223,essv9881101,essv9881513,essv9881329,essv9881064,essv9881548,essv9881341,essv9880991,essv9881639,essv9881331,essv9881099,essv9881619,essv9881131,essv9880953,essv9881490,essv9881213,essv9880936,essv9881586,essv9881277,essv9880986,essv9881618,essv9881191,essv9880971,essv9881592,essv9881226,essv9881036,essv9881519,essv9881296,essv9880992,essv9881484,essv9881283,essv9880954,essv9881594,essv9881177,essv9881047,essv9881514,essv9881286,essv9881062,essv9881602,essv9881200,essv9880947,essv9881613,essv9881224,essv9881003,essv9881570,essv9881217,essv9881002,essv9881502,essv9881321,essv9881051,essv9881589,essv9881273,essv9881111,essv9881556,essv9881203,essv9881024,essv9881600,essv9881135,essv9881076,essv9881638,essv9881340,essv9880963,essv9881604,essv9881230,essv9881086,essv9881574,essv9881291,essv9880964,essv9881576,essv9881208,essv9881100,essv9881622,essv9881255,essv9880998,essv9881542,essv9881292,essv9880928,essv9881557,essv9881314,essv9881000,essv9881539,essv9881325,essv9880949,essv9881498,essv9881244,essv9880938,essv9881583,essv9881140,essv9880985,essv9881625,essv9881234,essv9881084,essv9881605,essv9881173,essv9881102,essv9881534,essv9881153,essv9880987,essv9881499,essv9881252,essv9881093,essv9881512,essv9881304,essv9881068,essv9881591,essv9881317,essv9881061,essv9881606,essv9881206,essv9881060,essv9881560,essv9881297,essv9881110,essv9881493,essv9881180,essv9881037,essv9881540,essv9881231,essv9881114,essv9881588,essv9881169,essv9881103,essv9881643,essv9881240,essv9881091,essv9881566,essv9881121,essv9881092,essv9881486,essv9881312,essv9880976,essv9881572,essv9881142,essv9881059,essv9881517,essv9881271,essv9881005,essv9881533,essv9881313,essv9881004,essv9881568,essv9881210,essv9881075,essv9881564,essv9881209,essv9881035,essv9881503,essv9881254,essv9880948,essv9881511,essv9881338,essv9880983,essv9881537,essv9881324,essv9880930,essv9881608,essv9881125,essv9881022,essv9881508,essv9881257,essv9880969,essv9881595,essv9881263,essv9881048,essv9881612,essv9881272,essv9880993,essv9881526,essv9881158,essv9880980,essv9881644,essv9881151,essv9881074,essv9881599,essv9881149,essv9881098,essv9881545,essv9881189,essv9881011,essv9881598,essv9881136,essv9880994,essv9881485,essv9881269,essv9881019,essv9881624,essv9881328,essv9881027,essv9881482,essv9881261,essv9880950,essv9881487,essv9881192,essv9880990,essv9881492,essv9881128,essv9881082,essv9881527,essv9881299,essv9880978,essv9881637,essv9881204,essv9881095,essv9881617,essv9881344,essv9881117,essv9881631,essv9881182,essv9880931,essv9881506,essv9881316,essv9880965,essv9881645,essv9881219,essv9881107,essv9881630,essv9881132,essv9880972,essv9881553,essv9881243,essv9881057,essv9881610,essv9881058,essv9881581,essv9881104,essv9881582,essv9880951,essv9881563,essv9881071,essv9881575,essv9881053,essv9881521,essv9880957,essv9881603,essv9881017,essv9881620,essv9881034,essv9881627,essv9880926,essv9881520,essv9880959,essv9881578,essv9881010,essv9881554,essv9880945,essv9881524,essv9881020,essv9881500,essv9881052,essv9881518,essv9880977,essv9881616,essv9880961,essv9881636,essv9880999,essv9881480,essv9881112,essv9881565,essv9881118,essv9881481,essv9881073,essv9881633,essv9880929,essv9881623,essv9880944,essv9881495,essv9880943,essv9881640,essv9880942,essv9881590,essv9881108,essv9881501,essv9881106,essv9881562,essv9881067,essv9881641,essv9881018,essv9881642,essv9881006,essv9881549,essv9881023,essv9881491,essv9880955,essv9881529,essv9881056,essv9881544,essv9881013,essv9881536,essv9880984,essv9881497,essv9881055,essv9881525,essv9880958,essv9881535,essv9881072,essv9881496,essv9881094,essv9881635,essv9881089,essv9881609,essv9881046,essv9881538,essv9881077,essv9881561,essv9881096,essv9881596,essv9881050,essv9881629,essv9881026,essv9881488,essv9880941,essv9881628,essv9881033,essv9881597,essv9881085,essv9881569,essv9880946,essv9881607,essv9881105,essv9881585,essv9880932,essv9881551,essv9880960,essv9881528,essv9881028,essv9881509,essv9880937,essv9881593,essv9881087,essv9881614,essv9881042,essv9881611,essv9880997,essv9881531,essv9881097,essv9881522,essv9880966,essv9881543,essv9880962,essv9881547,essv9881063,essv9881504,essv9880989,essv9881584,essv9880996,essv9881516,essv9881041,essv9881601,essv9880935,essv9881505,essv9881054,essv9881558,essv9880970,essv9881483,essv9880967,essv9881523,essv9881078,essv9881626,essv9881088,essv9881567,essv9881031,essv9881555,essv9880940,essv9881571,essv9881069,essv9881510,essv9881030,essv9881532,essv9881080,essv9881577,essv9880939,essv9881530,essv9881113,essv9880674,essv9881039,essv9880638,essv9880934,essv9880639,essv9881115,essv9880640,essv9881021,essv9880641,essv9880973,essv9880690,essv9881025,essv9880642,essv9880956,essv9880671,essv9881008,essv9880643,essv9881083,essv9880644,essv9881007,essv9880637,essv9881090,essv9880645,essv9881065,essv9880646,essv9881045,essv9880647,essv9881014,essv9880684,essv9880982,essv9880676,essv9880979,essv9880675,essv9881009,essv9880680,essv9880988,essv9880687,essv9881012,essv9880678,essv9880968,essv9880648,essv9881032,essv9880681,essv9881001,essv9880672,essv9881015,essv9880649,essv9880975,essv9880650,essv9880933,essv9880651,essv9881079,essv9880673,essv9881016,essv9880622,essv9881040,essv9880689,essv9880755,essv9880623,essv9880731,essv9880624,essv9880777,essv9880652,essv9880748,essv9880653,essv9880734,essv9880625,essv9880799,essv9880654,essv9880798,essv9880655,essv9880794,essv9880656,essv9880732,essv9880626,essv9880692,essv9880657,essv9880694,essv9880682,essv9880790,essv9880679,essv9880773,essv9880627,essv9880774,essv9880658,essv9880787,essv9880659,essv9880797,essv9880628,essv9880737,essv9880660,essv9880741,essv9880661,essv9880723,essv9880662,essv9880713,essv9880685,essv9880788,essv9880663,essv9880785,essv9880688,essv9880733,essv9880664,essv9880771,essv9880629,essv9880717,essv9880665,essv9880730,essv9880630,essv9880763,essv9880631,essv9880756,essv9880686,essv9880701,essv9880691,essv9880767,essv9880666,essv9880792,essv9880667,essv9880693,essv9880632,essv9880739,essv9880683,essv9880742,essv9880668,essv9880782,essv9880633,essv9880709,essv9880634,essv9880735,essv9880635,essv9880786,essv9880669,essv9880768,essv9880677,essv9880743,essv9880636,essv9880793,essv9880670,essv9880704,essv9880925,essv9880726,essv9880873,essv9880789,essv9880809,essv9880764,essv9880843,essv9880738,essv9880807,essv9880736,essv9880841,essv9880770,essv9880865,essv9880719,essv9880862,essv9880766,essv9880808,essv9880781,essv9880810,essv9880780,essv9880803,essv9880769,essv9880872,essv9880784,essv9880813,essv9880754,essv9880891,essv9880800,essv9880898,essv9880772,essv9880897,essv9880720,essv9880895,essv9880696,essv9880864,essv9880749,essv9880856,essv9880796,essv9880851,essv9880698,essv9880871,essv9880697,essv9880806,essv9880710,essv9880853,essv9880702,essv9880912,essv9880728,essv9880818,essv9880725,essv9880854,essv9880715,essv9880814,essv9880759,essv9880863,essv9880708,essv9880918,essv9880753,essv9880827,essv9880752,essv9880866,essv9880705,essv9880849,essv9880758,essv9880876,essv9880778,essv9880884,essv9880761,essv9880901,essv9880699,essv9880832,essv9880718,essv9880903,essv9880747,essv9880896,essv9880703,essv9880924,essv9880727,essv9880869,essv9880745,essv9880900,essv9880744,essv9880899,essv9880760,essv9880915,essv9880751,essv9880913,essv9880724,essv9880916,essv9880746,essv9880894,essv9880783,essv9880888,essv9880802,essv9880834,essv9880765,essv9880835,essv9880779,essv9880920,essv9880716,essv9880922,essv9880706,essv9880911,essv9880707,essv9880838,essv9880762,essv9880874,essv9880750,essv9880839,essv9880729,essv9880837,essv9880795,essv9880852,essv9880775,essv9880890,essv9880740,essv9880858,essv9880700,essv9880831,essv9880791,essv9880830,essv9880801,essv9880817,essv9880776,essv9880845,essv9880721,essv9880836,essv9880695,essv9880824,essv9880722,essv9880870,essv9880757,essv9880921,essv9880711,essv9880892,essv9880714,essv9880905,essv9880712,essv9880848,essv9880877,essv9880811,essv9880825,essv9880868,essv9880850,essv9880855,essv9880820,essv9880867,essv9880822,essv9880886,essv9880881,essv9880908,essv9880914,essv9880821,essv9880902,essv9880846,essv9880828,essv9880882,essv9880919,essv9880904,essv9880833,essv9880885,essv9880875,essv9880804,essv9880883,essv9880878,essv9880842,essv9880815,essv9880823,essv9880910,essv9880909,essv9880880,essv9880907,essv9880829,essv9880893,essv9880859,essv9880819,essv9880812,essv9880844,essv9880917,essv9880860,essv9880906,essv9880826,essv9880861,essv9880857,essv9880805,essv9880847,essv9880889,essv9880816,essv9880887,essv9880840,essv9880923,essv9880879 M 2504 0 1024 PLA2G2C HG00097,HG00100,HG00102,HG00103,HG00108,HG00110,HG00113,HG00117,HG00118,HG00120,HG00123,HG00126,HG00127,HG00128,HG00130,HG00133,HG00137,HG00139,HG00142,HG00148,HG00149,HG00150,HG00154,HG00155,HG00157,HG00158,HG00180,HG00186,HG00187,HG00190,HG00240,HG00242,HG00244,HG00245,HG00251,HG00254,HG00259,HG00262,HG00264,HG00265,HG00267,HG00269,HG00272,HG00273,HG00282,HG00284,HG00309,HG00313,HG00323,HG00332,HG00334,HG00339,HG00344,HG00350,HG00357,HG00358,HG00360,HG00364,HG00368,HG00373,HG00381,HG00383,HG00407,HG00422,HG00437,HG00445,HG00446,HG00457,HG00463,HG00464,HG00475,HG00500,HG00524,HG00531,HG00534,HG00536,HG00537,HG00542,HG00543,HG00554,HG00556,HG00560,HG00565,HG00566,HG00584,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00619,HG00629,HG00631,HG00632,HG00640,HG00653,HG00672,HG00675,HG00689,HG00690,HG00692,HG00701,HG00705,HG00729,HG00732,HG00737,HG00742,HG00743,HG00759,HG00864,HG00879,HG01028,HG01031,HG01047,HG01051,HG01054,HG01066,HG01080,HG01088,HG01094,HG01097,HG01102,HG01105,HG01107,HG01111,HG01130,HG01131,HG01136,HG01140,HG01149,HG01162,HG01170,HG01174,HG01176,HG01177,HG01198,HG01200,HG01204,HG01205,HG01241,HG01251,HG01254,HG01259,HG01260,HG01269,HG01271,HG01302,HG01308,HG01311,HG01326,HG01369,HG01374,HG01384,HG01390,HG01392,HG01393,HG01403,HG01438,HG01441,HG01474,HG01485,HG01486,HG01491,HG01492,HG01504,HG01510,HG01513,HG01530,HG01550,HG01556,HG01571,HG01586,HG01589,HG01593,HG01598,HG01603,HG01608,HG01623,HG01625,HG01631,HG01669,HG01670,HG01675,HG01678,HG01682,HG01684,HG01686,HG01695,HG01697,HG01704,HG01705,HG01747,HG01756,HG01761,HG01766,HG01777,HG01783,HG01806,HG01810,HG01811,HG01840,HG01842,HG01844,HG01845,HG01846,HG01851,HG01852,HG01858,HG01859,HG01864,HG01865,HG01868,HG01869,HG01872,HG01873,HG01878,HG01882,HG01885,HG01890,HG01945,HG01956,HG01958,HG01979,HG01980,HG02006,HG02010,HG02012,HG02016,HG02017,HG02019,HG02026,HG02032,HG02048,HG02049,HG02051,HG02052,HG02053,HG02057,HG02064,HG02070,HG02072,HG02075,HG02076,HG02078,HG02079,HG02084,HG02090,HG02107,HG02108,HG02111,HG02121,HG02130,HG02137,HG02144,HG02152,HG02153,HG02154,HG02155,HG02166,HG02186,HG02187,HG02190,HG02220,HG02230,HG02231,HG02232,HG02239,HG02255,HG02256,HG02278,HG02281,HG02284,HG02307,HG02308,HG02314,HG02323,HG02330,HG02332,HG02339,HG02345,HG02351,HG02353,HG02367,HG02373,HG02374,HG02383,HG02385,HG02391,HG02392,HG02401,HG02402,HG02420,HG02425,HG02427,HG02429,HG02433,HG02439,HG02449,HG02450,HG02462,HG02464,HG02465,HG02479,HG02481,HG02489,HG02490,HG02493,HG02496,HG02508,HG02511,HG02513,HG02522,HG02537,HG02541,HG02545,HG02546,HG02554,HG02555,HG02562,HG02568,HG02571,HG02573,HG02574,HG02577,HG02582,HG02585,HG02588,HG02589,HG02594,HG02595,HG02600,HG02603,HG02611,HG02613,HG02620,HG02623,HG02624,HG02629,HG02635,HG02645,HG02646,HG02648,HG02649,HG02654,HG02657,HG02661,HG02679,HG02681,HG02682,HG02684,HG02687,HG02691,HG02694,HG02696,HG02697,HG02699,HG02703,HG02716,HG02721,HG02724,HG02725,HG02727,HG02731,HG02733,HG02736,HG02759,HG02760,HG02763,HG02768,HG02771,HG02774,HG02778,HG02780,HG02783,HG02784,HG02786,HG02789,HG02790,HG02792,HG02793,HG02805,HG02808,HG02811,HG02814,HG02817,HG02820,HG02836,HG02837,HG02839,HG02852,HG02854,HG02860,HG02870,HG02878,HG02879,HG02888,HG02890,HG02891,HG02922,HG02938,HG02941,HG02947,HG02952,HG02974,HG02976,HG02981,HG02983,HG03006,HG03009,HG03012,HG03015,HG03018,HG03019,HG03021,HG03022,HG03024,HG03025,HG03027,HG03028,HG03040,HG03045,HG03048,HG03049,HG03058,HG03060,HG03061,HG03064,HG03066,HG03072,HG03077,HG03079,HG03081,HG03084,HG03088,HG03091,HG03095,HG03096,HG03103,HG03105,HG03108,HG03111,HG03112,HG03115,HG03117,HG03118,HG03124,HG03126,HG03133,HG03136,HG03139,HG03157,HG03163,HG03169,HG03172,HG03189,HG03190,HG03209,HG03212,HG03224,HG03225,HG03235,HG03238,HG03241,HG03246,HG03259,HG03279,HG03291,HG03294,HG03301,HG03304,HG03311,HG03343,HG03351,HG03352,HG03354,HG03363,HG03367,HG03370,HG03378,HG03385,HG03391,HG03397,HG03428,HG03432,HG03433,HG03436,HG03437,HG03439,HG03445,HG03452,HG03455,HG03461,HG03464,HG03469,HG03470,HG03473,HG03479,HG03485,HG03488,HG03490,HG03499,HG03515,HG03538,HG03556,HG03557,HG03572,HG03575,HG03578,HG03583,HG03585,HG03589,HG03593,HG03598,HG03603,HG03607,HG03615,HG03624,HG03625,HG03634,HG03636,HG03642,HG03645,HG03646,HG03649,HG03663,HG03668,HG03672,HG03673,HG03679,HG03680,HG03684,HG03685,HG03687,HG03689,HG03690,HG03691,HG03692,HG03694,HG03695,HG03696,HG03697,HG03698,HG03703,HG03705,HG03706,HG03708,HG03709,HG03711,HG03717,HG03722,HG03729,HG03731,HG03736,HG03738,HG03740,HG03741,HG03742,HG03744,HG03745,HG03746,HG03750,HG03755,HG03756,HG03757,HG03762,HG03770,HG03771,HG03773,HG03774,HG03775,HG03778,HG03780,HG03781,HG03782,HG03784,HG03786,HG03787,HG03788,HG03790,HG03792,HG03793,HG03800,HG03802,HG03803,HG03805,HG03809,HG03812,HG03817,HG03821,HG03823,HG03824,HG03826,HG03829,HG03830,HG03832,HG03833,HG03836,HG03837,HG03856,HG03857,HG03861,HG03862,HG03864,HG03867,HG03868,HG03869,HG03870,HG03882,HG03886,HG03890,HG03894,HG03895,HG03896,HG03897,HG03898,HG03899,HG03902,HG03905,HG03907,HG03910,HG03913,HG03914,HG03916,HG03917,HG03922,HG03925,HG03926,HG03931,HG03937,HG03940,HG03943,HG03944,HG03945,HG03947,HG03949,HG03951,HG03955,HG03963,HG03965,HG03968,HG03969,HG03971,HG03973,HG03976,HG03977,HG03978,HG03986,HG03989,HG03990,HG03999,HG04001,HG04002,HG04003,HG04015,HG04018,HG04020,HG04025,HG04029,HG04033,HG04047,HG04054,HG04059,HG04060,HG04061,HG04076,HG04090,HG04099,HG04100,HG04106,HG04107,HG04118,HG04134,HG04141,HG04144,HG04146,HG04153,HG04158,HG04159,HG04161,HG04162,HG04171,HG04173,HG04176,HG04186,HG04188,HG04189,HG04195,HG04198,HG04209,HG04210,HG04216,HG04219,HG04222,HG04227,HG04229,HG04238,HG04239,NA06994,NA07000,NA07037,NA07051,NA07357,NA11829,NA11832,NA11840,NA11881,NA11894,NA11918,NA11919,NA11920,NA11932,NA11933,NA11994,NA12044,NA12275,NA12341,NA12347,NA12348,NA12399,NA12400,NA12414,NA12489,NA12717,NA12750,NA12751,NA12762,NA12775,NA12778,NA12815,NA12827,NA12842,NA12874,NA18486,NA18498,NA18502,NA18507,NA18511,NA18519,NA18520,NA18522,NA18525,NA18526,NA18532,NA18536,NA18539,NA18541,NA18543,NA18559,NA18563,NA18592,NA18593,NA18595,NA18596,NA18597,NA18606,NA18609,NA18621,NA18623,NA18624,NA18626,NA18628,NA18637,NA18642,NA18643,NA18646,NA18648,NA18749,NA18853,NA18856,NA18858,NA18861,NA18865,NA18876,NA18878,NA18881,NA18907,NA18908,NA18910,NA18912,NA18923,NA18924,NA18941,NA18942,NA18944,NA18945,NA18952,NA18953,NA18959,NA18963,NA18964,NA18970,NA18979,NA18981,NA18982,NA18987,NA18990,NA18998,NA19001,NA19007,NA19011,NA19012,NA19020,NA19023,NA19025,NA19027,NA19036,NA19037,NA19041,NA19043,NA19059,NA19064,NA19074,NA19075,NA19077,NA19080,NA19086,NA19093,NA19096,NA19098,NA19113,NA19114,NA19116,NA19130,NA19131,NA19137,NA19138,NA19141,NA19144,NA19146,NA19152,NA19153,NA19159,NA19172,NA19184,NA19185,NA19190,NA19200,NA19201,NA19213,NA19214,NA19225,NA19235,NA19236,NA19238,NA19239,NA19257,NA19307,NA19309,NA19310,NA19316,NA19317,NA19320,NA19323,NA19327,NA19351,NA19360,NA19372,NA19374,NA19376,NA19377,NA19378,NA19383,NA19384,NA19393,NA19394,NA19397,NA19399,NA19403,NA19404,NA19431,NA19435,NA19436,NA19440,NA19445,NA19446,NA19449,NA19452,NA19455,NA19456,NA19457,NA19462,NA19466,NA19472,NA19657,NA19658,NA19664,NA19669,NA19700,NA19701,NA19704,NA19707,NA19713,NA19717,NA19720,NA19725,NA19731,NA19750,NA19776,NA19779,NA19818,NA19834,NA19901,NA19908,NA19914,NA19920,NA19982,NA19984,NA20127,NA20276,NA20278,NA20281,NA20294,NA20298,NA20318,NA20332,NA20339,NA20342,NA20356,NA20357,NA20503,NA20513,NA20514,NA20518,NA20521,NA20525,NA20533,NA20535,NA20542,NA20543,NA20582,NA20589,NA20752,NA20755,NA20756,NA20760,NA20761,NA20764,NA20766,NA20768,NA20770,NA20771,NA20775,NA20778,NA20783,NA20795,NA20796,NA20798,NA20801,NA20802,NA20807,NA20808,NA20811,NA20812,NA20813,NA20814,NA20818,NA20826,NA20827,NA20828,NA20832,NA20845,NA20849,NA20850,NA20851,NA20852,NA20856,NA20858,NA20859,NA20861,NA20862,NA20863,NA20864,NA20868,NA20872,NA20874,NA20875,NA20876,NA20878,NA20881,NA20882,NA20884,NA20886,NA20887,NA20888,NA20889,NA20892,NA20894,NA20895,NA20897,NA20899,NA20900,NA20901,NA20902,NA20905,NA20906,NA20908,NA20910,NA21086,NA21088,NA21089,NA21090,NA21092,NA21093,NA21094,NA21095,NA21097,NA21098,NA21100,NA21104,NA21105,NA21108,NA21109,NA21111,NA21114,NA21115,NA21117,NA21119,NA21124,NA21130,NA21135,NA21137,NA21141,NA21142 nsv5572122 1 20497189 20497736 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062419 M 35 0 1 PLA2G2C HG00732 nsv5875250 1 20497189 20497736 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364254 M 914 0 1 PLA2G2C esv2674305 1 20497189 20497737 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6502082,essv6102601,essv6112671,essv6033012,essv5927148,essv5758005,essv5742905,essv5729622,essv6393786,essv5428448,essv6026232,essv5761706,essv6582638,essv6356710,essv6087089,essv6381398,essv6106708,essv5802403,essv6359596,essv6248930,essv6225022,essv5530247,essv5533443,essv5859723,essv6034059,essv5588541,essv5402368,essv6051400,essv6442812,essv5732812,essv5645938,essv6111390,essv5734667,essv5886149,essv5822577,essv6146226,essv6037922,essv6264007,essv5975806,essv6589632,essv5884253,essv6160665,essv6290536,essv5851510,essv5825255,essv6249313,essv6359341,essv5905453,essv6065859,essv5985987,essv6138021,essv6111213,essv6089174,essv6239053,essv5905007,essv6505583,essv5887773,essv6251699,essv6379449,essv5434151,essv6511384,essv6023297,essv6114740,essv5882383,essv6178870,essv5700124,essv5984146,essv5841476,essv6545892,essv5807104,essv5499207,essv5811876,essv5763251,essv5471457,essv6317774,essv5690138,essv5671785,essv5569196,essv6585776,essv6227831,essv6262415,essv5828502,essv6565376,essv5640472,essv6154907,essv5973010,essv6156014,essv5934359,essv5643449,essv6444298,essv6573679,essv6126763,essv5576319,essv6461707,essv6173243,essv5641653,essv6281719,essv5687687,essv5833762,essv6553543,essv5420974,essv5547554,essv6357832,essv5946473,essv5905206,essv5655903,essv6517871,essv6395277,essv6174027,essv5426160,essv6135747,essv5600177,essv5830619,essv6545711,essv5696823,essv5907651,essv6495603,essv5885421,essv5550212,essv5790037,essv6260831,essv5830785,essv5458547,essv5918889,essv5583052,essv5816191,essv6237961,essv6424152,essv6547847,essv6527922,essv5898611,essv5515606,essv5602717,essv6488897,essv6523208,essv6589894,essv5994808,essv6442756,essv5916238,essv6205933,essv5560105,essv5866475,essv5504163,essv6389578,essv5812424,essv5707580,essv5930820,essv6525136,essv6588608,essv6535284,essv5999134,essv6561292,essv5675735,essv5628913,essv6446714,essv6454113,essv6260426,essv5576538,essv6511354,essv5900631,essv5472356,essv5789530,essv6201168,essv5469661,essv6066631,essv6491599,essv5526620,essv6515092,essv5924639,essv6227949,essv6208024,essv5662963,essv5410324,essv5560633,essv5749697,essv5408799,essv6016378,essv5841113,essv5859223,essv5887205,essv6418963,essv5578373,essv6079286,essv6190844,essv6423702,essv6288203,essv6168214,essv6224351,essv6322211,essv5548216,essv5433733,essv6240908,essv5958099,essv6558494,essv6209303,essv5767841,essv6295662,essv6468002,essv6024083,essv5833887,essv5864897,essv5402346,essv5945934,essv6378443,essv5678867,essv6122097,essv6234925,essv5468773,essv5470467,essv6589463,essv6215104,essv5576160,essv6171897,essv5500187,essv6128857,essv5991652,essv5636122,essv6385212,essv5656975,essv5739202,essv5744083,essv6359619,essv5741907,essv6455974,essv6369149,essv5885757,essv5619101,essv5931692,essv6510213,essv6585594,essv5469079,essv5612185,essv6443840,essv5423291,essv5672697,essv5848077,essv6580103,essv5667866,essv6597200,essv5896679,essv5861282,essv5520628,essv5826395,essv5807407,essv5420129,essv6124609,essv6104301,essv6469395 M 1151 0 248 PLA2G2C HG00100,HG00103,HG00108,HG00117,HG00120,HG00123,HG00124,HG00126,HG00133,HG00137,HG00139,HG00148,HG00150,HG00152,HG00154,HG00158,HG00186,HG00187,HG00190,HG00242,HG00245,HG00249,HG00251,HG00254,HG00259,HG00262,HG00265,HG00270,HG00273,HG00282,HG00284,HG00309,HG00313,HG00323,HG00334,HG00344,HG00357,HG00368,HG00422,HG00437,HG00463,HG00464,HG00475,HG00500,HG00512,HG00524,HG00534,HG00536,HG00537,HG00542,HG00543,HG00560,HG00565,HG00566,HG00577,HG00584,HG00596,HG00607,HG00608,HG00610,HG00613,HG00619,HG00629,HG00635,HG00653,HG00672,HG00689,HG00690,HG00701,HG00705,HG00732,HG01047,HG01051,HG01066,HG01080,HG01102,HG01107,HG01136,HG01140,HG01149,HG01170,HG01174,HG01177,HG01374,HG01384,HG01390,HG01491,HG01492,HG01550,NA07000,NA07037,NA07051,NA07357,NA11829,NA11881,NA11894,NA11918,NA11920,NA11932,NA11933,NA11994,NA12275,NA12347,NA12348,NA12399,NA12400,NA12414,NA12489,NA12717,NA12750,NA12775,NA12778,NA12827,NA12842,NA12892,NA18486,NA18498,NA18502,NA18511,NA18519,NA18520,NA18522,NA18526,NA18532,NA18536,NA18541,NA18543,NA18559,NA18563,NA18592,NA18593,NA18595,NA18596,NA18597,NA18606,NA18609,NA18621,NA18623,NA18626,NA18628,NA18637,NA18853,NA18856,NA18858,NA18861,NA18907,NA18908,NA18910,NA18912,NA18923,NA18924,NA18941,NA18944,NA18952,NA18953,NA18959,NA18963,NA18964,NA18982,NA18987,NA18990,NA18991,NA19007,NA19012,NA19059,NA19064,NA19074,NA19075,NA19077,NA19093,NA19114,NA19116,NA19130,NA19138,NA19172,NA19190,NA19213,NA19225,NA19238,NA19239,NA19257,NA19317,NA19360,NA19371,NA19372,NA19376,NA19383,NA19394,NA19396,NA19397,NA19399,NA19404,NA19431,NA19444,NA19445,NA19446,NA19449,NA19452,NA19453,NA19455,NA19457,NA19462,NA19466,NA19472,NA19657,NA19664,NA19700,NA19701,NA19707,NA19713,NA19717,NA19720,NA19750,NA19776,NA19818,NA19834,NA19901,NA19920,NA19982,NA20332,NA20344,NA20356,NA20503,NA20513,NA20514,NA20518,NA20521,NA20525,NA20533,NA20543,NA20582,NA20756,NA20760,NA20766,NA20768,NA20770,NA20771,NA20778,NA20795,NA20796,NA20798,NA20801,NA20802,NA20807,NA20808,NA20813,NA20818,NA20828 nsv1122306 1 20497189 20497737 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969758 M 2 0 1 PLA2G2C KWS2 nsv3524830 1 20497189 20497737 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14352975,nssv14352971,nssv14352974,nssv14352972,nssv14352973 M 9 0 5 PLA2G2C HG00512,HG00732,HG00733,NA19238,NA19239 nsv5982330 1 20497189 20497737 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535287 M 405 0 1 PLA2G2C nsv6320953 1 20497189 20497737 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056643 M 19652 0 1 PLA2G2C esv3682553 1 20497189 20497738 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467374 M 20 0 1 PLA2G2C nsv3321500 1 20497190 20497737 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488674,nssv14485545 M 14 0 2 PLA2G2C HG00733,HG02818 nsv4390887 1 20497190 20497737 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15704959 M 174 0 1 PLA2G2C nsv3174831 1 20497190 20497738 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14442972 M 9 0 0 PLA2G2C HG00733 nsv4736608 1 20497192 20497738 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273855 M 25 0 1 PLA2G2C nsv4034282 1 20497194 20497737 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848850 M 10847 0 1 PLA2G2C nsv5432322 1 20497194 20497737 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901020 M 3202 0 1 PLA2G2C dgv9n172 1 20497195 20497867 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4433025,nsv4433026 M 15 0 4 PLA2G2C BTQ016,MDQ010,MDQ045,NB08 esv26523 1 20497229 20497789 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11635 M 40 0 1 PLA2G2C NA18858 nsv5828858 1 20498727 20500526 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464751 M 914 0 0 PLA2G2C esv2674003 1 20498729 20500566 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5773198 M 1151 0 1 PLA2G2C NA18505 nsv5872783 1 20498750 20500543 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359518 M 914 0 1 PLA2G2C nsv4033733 1 20498752 20500544 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848851 M 10847 0 1 PLA2G2C nsv5418224 1 20498752 20500544 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901021 M 3202 0 1 PLA2G2C nsv6321086 1 20498752 20500544 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056644 M 19652 0 1 PLA2G2C esv3585417 1 20498758 20500658 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9881649,essv9881646,essv9881648,essv9881647 M 2504 0 4 PLA2G2C HG03139,HG03166,NA18505,NA19121 esv26309 1 20499004 20500798 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10552 M 40 0 1 PLA2G2C NA18505 nsv4049549 1 20509871 20510684 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848852 M 10847 0 1 "" nsv4034521 1 20514421 20514523 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848853 M 10847 0 1 UBXN10 nsv5426050 1 20514421 20514523 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901022 M 3202 0 1 UBXN10 nsv6536302 1 20523269 20523571 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248891 M 19652 0 0 "" nsv4535736 1 20532114 20532115 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028530 M 10847 1 0 "" nsv6328575 1 20538801 20723814 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201820 M 19652 1 0 LINC01141,VWA5B1 esv1000843 1 20541629 20545456 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565754 M 3 0 1 "" HuRef nsv5421591 1 20545726 20547381 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901023 M 3202 0 1 "" nsv4034156 1 20554087 20606320 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848854 M 10847 0 1 "" nsv6323898 1 20554087 20606320 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056676 M 19652 0 1 "" nsv1000821 1 20556029 20604014 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700852,nssv3700853 M 11257 0 2 "" dgv179n54 1 20556029 20606320 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545733,nsv545732 M 17421 0 2 "" esv3585418 1 20556444 20558705 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9881650 M 2504 0 1 "" HG02582 nsv5421758 1 20556567 20558772 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901024 M 3202 0 1 "" nsv4035409 1 20556640 20556733 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848855 M 10847 0 1 "" nsv4460572 1 20563702 20563703 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028539 M 10847 1 0 "" nsv6335243 1 20568199 20571009 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056685 M 19652 0 1 "" nsv4742854 1 20581411 20581594 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16284910 M 25 0 1 "" nsv5568980 1 20581601 20581778 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062560 M 35 0 1 "" HG00732 nsv3321509 1 20581602 20581779 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472677,nssv14487545,nssv14477928 M 14 0 3 "" HG00514,HG01352,HG02106 nsv3280813 1 20581603 20581781 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14441774,nssv14416214 M 9 0 2 "" HG00514,HG00733 nsv5982266 1 20581604 20581783 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529102 M 405 0 1 "" nsv6044090 1 20581655 20581655 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521238 M 405 1 0 "" nsv5956413 1 20588904 20588904 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17365353 M 914 1 0 "" nsv6318659 1 20589216 20624700 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056693 M 19652 0 1 VWA5B1 nsv998806 1 20592340 20624012 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479431 M 11257 0 1 VWA5B1 nsv4459917 1 20598078 20598079 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026709 M 10847 1 0 "" nsv5424921 1 20599228 20599491 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901026 M 3202 1 0 "" nsv1145324 1 20600302 20600354 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982420 M 2 0 1 "" KWS1 nsv5612721 1 20600434 20600434 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062575 M 35 1 0 "" HG03125 esv3666247 1 20600469 20600551 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488826 M 20 0 0 "" nsv818100 1 20601012 20604959 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417739 M 112 0 1 "" NA19003 nsv5829155 1 20607263 20608462 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469404 M 914 0 0 "" nsv5971854 1 20607356 20607628 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17363175 M 914 0 0 "" esv24128 1 20614631 20616067 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv16821 M 40 1 0 "" NA11993 nsv4460435 1 20617050 20617051 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026718 M 10847 1 0 "" nsv4047474 1 20620174 20620260 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848856 M 10847 0 1 VWA5B1 nsv5621564 1 20621122 20621122 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062578 M 35 1 0 VWA5B1 HG03486 nsv5868125 1 20621122 20621231 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354164 M 914 0 1 VWA5B1 nsv1129128 1 20621127 20621194 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3961804 M 2 1 0 VWA5B1 KWS1 nsv4050624 1 20621437 20626834 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848858 M 10847 0 1 VWA5B1 nsv5875492 1 20626916 20627012 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368966 M 914 0 1 VWA5B1 nsv4038005 1 20626919 20627013 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848859 M 10847 0 1 VWA5B1 nsv5427362 1 20626919 20627013 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901030 M 3202 0 1 VWA5B1 nsv5421101 1 20627067 20627233 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901031 M 3202 0 1 VWA5B1 esv2762277 1 20630834 20635699 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7007966 M 1109 0 1 VWA5B1 SW_0820 nsv6330192 1 20634894 20637393 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056709 M 19652 0 1 VWA5B1 nsv4038166 1 20642607 20650613 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848860 M 10847 0 1 VWA5B1 esv2669937 1 20642964 20643866 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5510095 M 1151 0 1 VWA5B1 NA19380 esv3585419 1 20642971 20643871 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9881651 M 2504 0 1 VWA5B1 NA19380 nsv5414922 1 20642976 20643827 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901032 M 3202 0 1 VWA5B1 nsv5688145 1 20647622 20647622 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205683 M 3202 1 0 VWA5B1 nsv5872049 1 20648129 20648204 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350155 M 914 0 1 VWA5B1 nsv4034067 1 20648129 20648206 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848861 M 10847 0 1 VWA5B1 nsv5631 1 20664832 20707626 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5386,nssv3933 M 9 2 0 LINC01141,VWA5B1 NA12878,NA19129 nsv1077197 1 20669799 20670500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770069 M 1 0 1 VWA5B1 KWP1 nsv6331382 1 20673506 20679033 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056726 M 19652 0 1 VWA5B1 nsv4517787 1 20680586 20680886 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848862 M 10847 0 1 VWA5B1 nsv4048377 1 20683814 20684233 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848863 M 10847 0 1 "" nsv5420296 1 20683814 20684233 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901034 M 3202 0 1 "" nsv4040341 1 20690739 20690954 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848864 M 10847 0 1 LINC01141 nsv1140109 1 20691067 20691141 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3978821 M 2 1 0 LINC01141 KWS2 nsv5427757 1 20699134 20699406 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899338 M 3202 0 1 LINC01141 nsv6325062 1 20701294 20706193 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056743 M 19652 0 1 LINC01141 nsv3207014 1 20708045 20708962 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14352991 M 9 0 1 LINC01141 HG00733 esv2513498 1 20708577 20709500 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5214092 M 1 1 0 LINC01141 NA18507 esv3347293 1 20708665 20709363 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692107 M 185 1 0 LINC01141 NA19240 nsv4762915 1 20708949 20708949 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16267222 M 25 1 0 LINC01141 esv3663580 1 20708961 20708961 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486425 M 20 1 0 LINC01141 nsv3951226 1 20708961 20708961 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192625 M 1 1 0 LINC01141 HG002 nsv4444794 1 20708961 20708961 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15758625 M 1 1 0 LINC01141 nsv5611545 1 20708961 20708961 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062452 M 35 1 0 LINC01141 HG00731 nsv6046498 1 20708961 20708961 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519535 M 405 1 0 LINC01141 nsv2800620 1 20708962 20708962 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13709495 M 2 1 0 LINC01141 nsv3321979 1 20708962 20708962 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477246,nssv14482240,nssv14487050,nssv14488647,nssv14475817,nssv14487455,nssv14478533,nssv14473302,nssv14485659,nssv14488548,nssv14478728,nssv14479902,nssv14485434,nssv14482172 M 14 14 0 LINC01141 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3536361 1 20708971 20708971 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389555,nssv14438805 M 9 2 0 LINC01141 HG00733,NA19240 nsv3531877 1 20708992 20708992 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413789 M 9 1 0 LINC01141 HG00514 esv3585420 1 20710219 20714564 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9881654,essv9881652,essv9881653,essv9881656,essv9881660,essv9881655,essv9881659,essv9881657,essv9881658 M 2504 9 0 LINC01141 HG00626,HG01982,HG02696,HG02733,HG03235,HG03736,HG03905,HG04070,NA18574 nsv4035653 1 20710481 20712969 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966062 M 10847 1 0 LINC01141 nsv5418895 1 20710481 20712969 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899340 M 3202 1 0 LINC01141 nsv6321492 1 20710481 20712969 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201842 M 19652 1 0 LINC01141 nsv6332931 1 20712907 20713486 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056749 M 19652 0 1 LINC01141 nsv3320897 1 20714560 20714696 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14811787 M 14 0 1 LINC01141 NA12878 nsv6324315 1 20715036 20716920 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056751 M 19652 0 1 LINC01141 nsv6327848 1 20731435 20733306 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056996 M 19652 0 1 LINC01141 nsv5683808 1 20733951 20733951 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17181574 M 3202 1 0 LINC01141 nsv5400831 1 20733951 20734002 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899341 M 3202 1 0 LINC01141 nsv6325100 1 20741262 20743779 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057001 M 19652 0 1 LINC01141 nsv6245229 1 20746010 20746010 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857428 M 1021 1 0 LINC01141 nsv4051704 1 20753903 20753971 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848865 M 10847 0 1 LINC01141 nsv5542765 1 20754124 20754174 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899342 M 3202 1 0 LINC01141 nsv4535661 1 20754174 20754175 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026729 M 10847 1 0 LINC01141 nsv5544155 1 20754188 20754198 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899344 M 3202 1 0 LINC01141 nsv5982417 1 20757699 20761929 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527359 M 405 0 1 "" nsv3216329 1 20778948 20802091 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260559,nssv14260561,nssv14260556,nssv14260558,nssv14260562,nssv14260563,nssv14260557,nssv14260560,nssv14260555 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3366225 1 20780165 20781863 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692109 M 185 1 0 "" NA19238 dgv62e59 1 20780265 20781463 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3444591,esv3325828 M 185 2 0 "" NA19239,NA19240 nsv6318367 1 20787881 20792818 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057018 M 19652 0 1 "" esv2560487 1 20789862 20790311 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5314979 M 1 1 0 "" NA18507 nsv4755715 1 20789933 20789933 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265933 M 25 1 0 "" nsv4745176 1 20789933 20790830 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16283891 M 25 1 0 "" nsv512724 1 20789982 20790088 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625349 M 1 1 0 "" 1 nsv3056779 1 20790007 20790007 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14022298 M 2 1 0 "" CHM1 esv3670880 1 20790032 20790032 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16492997 M 20 1 0 "" nsv3941256 1 20790032 20790032 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192626 M 1 1 0 "" HG002 nsv4444795 1 20790032 20790032 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757276 M 1 1 0 "" nsv5606492 1 20790032 20790032 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062214 M 35 1 0 "" HG00731 nsv5949567 1 20790032 20790032 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354197 M 914 1 0 "" nsv6042623 1 20790032 20790032 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529891 M 405 1 0 "" nsv2801264 1 20790033 20790033 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13700336 M 2 1 0 "" nsv3321104 1 20790033 20790033 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476983,nssv14474105,nssv14481486,nssv14479160,nssv14478615,nssv14482335,nssv14481261,nssv14472271,nssv14490974,nssv14486741,nssv14480061,nssv14485951,nssv14488000,nssv14475381 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3536362 1 20790035 20790035 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386663,nssv14413790,nssv14438806 M 9 3 0 "" HG00514,HG00733,NA19240 nsv5982420 1 20790035 20790088 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521844 M 405 0 1 "" nsv3533935 1 20790049 20790049 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413791 M 9 1 0 "" HG00514 nsv3203964 1 20790049 20790208 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14353639,nssv14353638 M 9 2 0 "" HG00513,HG00514 nsv6048329 1 20790057 20790057 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533177 M 405 1 0 "" nsv5868430 1 20796346 20796401 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366187 M 914 0 1 "" esv3554122 1 20796346 20796402 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9752869 M 767 0 1 "" nsv4039679 1 20797995 20799879 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848866 M 10847 0 1 "" nsv5689644 1 20800094 20800094 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17181613,nssv17205684 M 3202 2 0 "" nsv6245240 1 20800094 20800094 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857434 M 1021 1 0 "" nsv5411956 1 20800094 20800145 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899348 M 3202 1 0 "" nsv4032630 1 20801848 20801905 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848868 M 10847 0 1 "" nsv4037694 1 20803900 20803966 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966063 M 10847 1 0 "" nsv5417297 1 20803900 20803966 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899349 M 3202 1 0 "" nsv821943 1 20806011 20818647 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1426380 M 31 1 0 CAMK2N1 AK6 nsv954900 1 20810801 20813900 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003149 M 1 0 1 CAMK2N1 BILGI_BIOE nsv1077198 1 20811999 20812700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762179 M 1 0 1 CAMK2N1 KWP1 nsv6054497 1 20814888 20814888 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531457 M 405 1 0 "" nsv5882803 1 20821662 20821922 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351594 M 914 0 1 "" esv3663593 1 20824887 20824887 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486437 M 20 1 0 "" nsv5604700 1 20824887 20824887 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062216 M 35 1 0 "" HG00096 nsv5947817 1 20824887 20824887 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361925 M 914 1 0 "" nsv6041259 1 20824907 20824907 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520424 M 405 1 0 "" nsv5550758 1 20824925 20824938 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899350 M 3202 1 0 "" esv3385515 1 20824926 20824926 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8638738 M 185 0 0 "" nsv6317078 1 20837193 20839404 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201858 M 19652 1 0 "" nsv5880821 1 20837786 20838268 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350821 M 914 0 1 "" nsv4038507 1 20837786 20838269 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848869 M 10847 0 1 "" nsv5415977 1 20837786 20838269 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899352 M 3202 0 1 "" nsv6318381 1 20837786 20838269 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057035 M 19652 0 1 "" nsv6543657 1 20840210 20841094 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249964 M 19652 0 0 "" nsv5884397 1 20843062 20843390 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353533 M 914 0 1 "" nsv5425163 1 20843062 20843391 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899353 M 3202 0 1 "" nsv5982281 1 20843077 20843406 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534779 M 405 0 1 "" nsv6326970 1 20844437 20844921 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201860 M 19652 1 0 "" esv3663600 1 20846085 20846085 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486443 M 20 1 0 "" nsv4050023 1 20848942 20849171 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848870 M 10847 0 1 "" esv3585422 1 20851129 20852211 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9881933 M 2504 0 1 "" HG00452 nsv5417388 1 20851338 20852351 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899354 M 3202 0 1 "" nsv945811 1 20852490 20853962 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763224,nssv1763306,nssv1763217,nssv1763308,nssv1763299,nssv1763283,nssv1763223,nssv1763304,nssv1763215,nssv1763310,nssv1763216,nssv1763268,nssv1763237,nssv1763254,nssv1763233,nssv1763256,nssv1763238,nssv1763278,nssv1763240,nssv1763261,nssv1763300,nssv1763259,nssv1763244,nssv1763267,nssv1763295,nssv1763270,nssv1763241,nssv1763260,nssv1763297,nssv1763275,nssv1763235,nssv1763276,nssv1763298,nssv1763305,nssv1763291,nssv1763286,nssv1763214,nssv1763284,nssv1763231,nssv1763289,nssv1763228,nssv1763277,nssv1763243,nssv1763274,nssv1763218,nssv1763269,nssv1763250,nssv1763252,nssv1763219,nssv1763273,nssv1763246,nssv1763290,nssv1763247,nssv1763257,nssv1763239,nssv1763282,nssv1763293,nssv1763271,nssv1763229,nssv1763272,nssv1763232,nssv1763255,nssv1763294,nssv1763301,nssv1763220,nssv1763279,nssv1763225,nssv1763281,nssv1763242,nssv1763309,nssv1763227,nssv1763258,nssv1763234,nssv1763307,nssv1763248,nssv1763287,nssv1763245,nssv1763266,nssv1763296,nssv1763280,nssv1763249,nssv1763262,nssv1763251,nssv1763263,nssv1763230,nssv1763302,nssv1763292,nssv1763285,nssv1763222,nssv1763265,nssv1763226,nssv1763288,nssv1763236,nssv1763253,nssv1763221,nssv1763303,nssv1763264 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5689358 1 20855365 20855365 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17180988 M 3202 1 0 "" nsv3206733 1 20858621 20859129 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14353677 M 9 0 1 "" HG00513 nsv4459930 1 20861707 20861708 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026739 M 10847 1 0 "" esv3554455 1 20863869 20864776 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9753202 M 767 0 1 "" nsv5415188 1 20863963 20864549 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899356 M 3202 0 1 "" nsv4731113 1 20864008 20864721 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16287511 M 25 0 1 "" esv3585423 1 20864015 20864732 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9882017,essv9881942,essv9882019,essv9881943,essv9882002,essv9881944,essv9882026,essv9881974,essv9882008,essv9881972,essv9882015,essv9881968,essv9882031,essv9881973,essv9882030,essv9881945,essv9882007,essv9881963,essv9882022,essv9881946,essv9882032,essv9881947,essv9882033,essv9881966,essv9882006,essv9881948,essv9882029,essv9881934,essv9882014,essv9881949,essv9882027,essv9881970,essv9882020,essv9881935,essv9882011,essv9881971,essv9882004,essv9881936,essv9882034,essv9881950,essv9882016,essv9881937,essv9882023,essv9881951,essv9882003,essv9881952,essv9882028,essv9881967,essv9882010,essv9881953,essv9882036,essv9881954,essv9882009,essv9881938,essv9882021,essv9881955,essv9882018,essv9881939,essv9882024,essv9881956,essv9882012,essv9881965,essv9882013,essv9881957,essv9882025,essv9881958,essv9882005,essv9881964,essv9882035,essv9881959,essv9882060,essv9882176,essv9881940,essv9882066,essv9882141,essv9881960,essv9882085,essv9882123,essv9881969,essv9882048,essv9882147,essv9881961,essv9882084,essv9882171,essv9881962,essv9882088,essv9882144,essv9881941,essv9882069,essv9882172,essv9882072,essv9882159,essv9882070,essv9882150,essv9882062,essv9882165,essv9882082,essv9882155,essv9882079,essv9882127,essv9882091,essv9882148,essv9882047,essv9882142,essv9882068,essv9882160,essv9882067,essv9882133,essv9882078,essv9882164,essv9882080,essv9882173,essv9882077,essv9882131,essv9882055,essv9882135,essv9882075,essv9882136,essv9882089,essv9882130,essv9882073,essv9882162,essv9882074,essv9882158,essv9882061,essv9882146,essv9882083,essv9882143,essv9882063,essv9882154,essv9882053,essv9882149,essv9882051,essv9882161,essv9882050,essv9882153,essv9882086,essv9882175,essv9882046,essv9882134,essv9882090,essv9882139,essv9882049,essv9882167,essv9882071,essv9882157,essv9882081,essv9882140,essv9882057,essv9882174,essv9882056,essv9882170,essv9882065,essv9882137,essv9882064,essv9882124,essv9882076,essv9882125,essv9882054,essv9882145,essv9882052,essv9882163,essv9882059,essv9882169,essv9882058,essv9882129,essv9882087,essv9882126,essv9882092,essv9882128,essv9882108,essv9882132,essv9882106,essv9882151,essv9882105,essv9882152,essv9882119,essv9882166,essv9882101,essv9882138,essv9882113,essv9882168,essv9882115,essv9882156,essv9882099,essv9882039,essv9882095,essv9882042,essv9882094,essv9882045,essv9882104,essv9882044,essv9882097,essv9882038,essv9882118,essv9882041,essv9882111,essv9882043,essv9882109,essv9882037,essv9882096,essv9882040,essv9882093,essv9881978,essv9882120,essv9881980,essv9882098,essv9881989,essv9882122,essv9881997,essv9882110,essv9882000,essv9882112,essv9882001,essv9882114,essv9881986,essv9882121,essv9881984,essv9882107,essv9881993,essv9882116,essv9881990,essv9882103,essv9881975,essv9882102,essv9881987,essv9882100,essv9881983,essv9882117,essv9881977,essv9881992,essv9881985,essv9881994,essv9881999,essv9881979,essv9881981,essv9881988,essv9881996,essv9881991,essv9881998,essv9881982,essv9881995,essv9881976 M 2504 0 243 "" HG00096,HG00100,HG00102,HG00106,HG00112,HG00115,HG00123,HG00132,HG00136,HG00138,HG00140,HG00160,HG00179,HG00183,HG00188,HG00234,HG00243,HG00250,HG00251,HG00255,HG00258,HG00265,HG00266,HG00271,HG00275,HG00281,HG00288,HG00308,HG00313,HG00341,HG00342,HG00345,HG00346,HG00353,HG00355,HG00362,HG00371,HG00373,HG00445,HG00449,HG00452,HG00581,HG00589,HG00598,HG00672,HG00689,HG00717,HG01046,HG01066,HG01075,HG01122,HG01198,HG01200,HG01205,HG01302,HG01383,HG01384,HG01456,HG01498,HG01501,HG01503,HG01512,HG01518,HG01527,HG01528,HG01531,HG01619,HG01624,HG01676,HG01682,HG01705,HG01747,HG01770,HG01789,HG01801,HG01816,HG01850,HG01870,HG01872,HG01893,HG01932,HG01951,HG01970,HG01973,HG02072,HG02085,HG02137,HG02186,HG02219,HG02220,HG02224,HG02230,HG02231,HG02252,HG02253,HG02272,HG02278,HG02283,HG02337,HG02343,HG02356,HG02384,HG02385,HG02681,HG02682,HG02728,HG02778,HG02784,HG02787,HG03015,HG03022,HG03228,HG03589,HG03611,HG03629,HG03681,HG03686,HG03713,HG03720,HG03779,HG03782,HG03802,HG03815,HG03830,HG03833,HG03864,HG03871,HG03882,HG03926,HG03977,HG03991,HG04001,HG04061,HG04062,HG04152,HG04153,HG04158,HG04183,HG04206,HG04219,HG04238,NA06994,NA07051,NA07347,NA10847,NA10851,NA11843,NA11930,NA11931,NA11932,NA12003,NA12043,NA12287,NA12347,NA12348,NA12400,NA12489,NA12546,NA12718,NA12776,NA12812,NA12874,NA12889,NA18535,NA18550,NA18561,NA18570,NA18574,NA18577,NA18603,NA18605,NA18619,NA18620,NA18621,NA18626,NA18627,NA18630,NA18642,NA18644,NA18945,NA18948,NA18954,NA18960,NA18993,NA19001,NA19006,NA19010,NA19059,NA19062,NA19448,NA19652,NA19670,NA19681,NA19717,NA19722,NA19731,NA19750,NA19762,NA19764,NA19770,NA19776,NA19786,NA20502,NA20508,NA20513,NA20519,NA20520,NA20529,NA20534,NA20535,NA20544,NA20581,NA20582,NA20585,NA20586,NA20587,NA20756,NA20757,NA20758,NA20759,NA20773,NA20774,NA20783,NA20799,NA20800,NA20810,NA20813,NA20814,NA20822,NA20862,NA20878,NA20891,NA20910,NA21088,NA21097,NA21099,NA21103,NA21109,NA21113,NA21115,NA21123,NA21130,NA21135 nsv5564951 1 20864032 20864745 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062223 M 35 0 1 "" HG00096 nsv5868204 1 20864032 20864745 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363924 M 914 0 1 "" esv2666516 1 20864032 20864746 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5935916,essv6452883,essv5865398,essv6252171,essv5837165,essv5545226,essv5747090,essv6006154,essv5792781,essv6115128,essv5630370,essv6467170,essv6385765,essv5782824,essv5839828,essv6402543,essv6451843,essv5747728,essv5969944,essv5537001,essv6435697,essv5730927,essv5716749,essv6399228,essv5400794,essv6512414,essv6162102,essv5960035,essv6171369,essv5480391,essv5700553,essv6252389,essv5677582,essv6493657,essv5925105,essv6138285,essv5915222,essv5540106,essv5862950,essv6364464,essv6484071,essv5576176,essv6236836,essv5610021,essv6124937,essv6044805,essv5656747,essv5820883,essv6175706,essv5477050,essv6027573,essv6377930,essv6164230,essv6539682,essv6258354,essv6508551,essv6413604,essv6097162,essv6096258,essv5566968,essv6445054,essv6525808,essv5748798,essv6196064,essv5693951,essv5952106,essv6336884,essv5664172,essv6577434,essv6389030,essv5884238,essv6048600,essv6252992,essv6343220,essv6479738,essv5662994,essv6575030,essv5911912,essv5935990,essv5670667 M 1151 0 80 "" HG00096,HG00100,HG00106,HG00123,HG00136,HG00140,HG00179,HG00183,HG00243,HG00247,HG00249,HG00250,HG00251,HG00258,HG00265,HG00275,HG00281,HG00313,HG00345,HG00346,HG00373,HG00449,HG00578,HG00581,HG00589,HG00635,HG00672,HG00689,HG01066,HG01198,HG01350,HG01383,HG01384,HG01498,NA06994,NA07051,NA07346,NA10847,NA10851,NA11843,NA11931,NA12003,NA12043,NA12154,NA12287,NA12348,NA12400,NA12489,NA12718,NA12776,NA18550,NA18561,NA18570,NA18577,NA18605,NA18619,NA18621,NA18627,NA18960,NA18974,NA19010,NA19059,NA19062,NA19448,NA19652,NA19681,NA19717,NA19750,NA19776,NA19786,NA20534,NA20581,NA20586,NA20757,NA20758,NA20773,NA20774,NA20783,NA20800,NA20813 nsv5982515 1 20864032 20864746 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525624 M 405 0 1 "" esv3682572 1 20864032 20864747 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467391 M 20 0 1 "" nsv4517101 1 20864043 20864704 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848871 M 10847 0 1 "" nsv6322649 1 20864056 20864704 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057049 M 19652 0 1 "" nsv6331960 1 20866594 20868393 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057050 M 19652 0 1 "" nsv6320101 1 20869894 20871593 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057052 M 19652 0 1 "" nsv4051006 1 20871458 20871672 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848872 M 10847 0 1 "" nsv5420304 1 20871458 20871672 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899358 M 3202 0 1 "" nsv5957576 1 20872330 20872330 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17359216 M 914 1 0 "" nsv4569369 1 20872330 20872331 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16026749 M 10847 1 0 "" nsv6053460 1 20872333 20872333 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532882 M 405 1 0 "" nsv5716750 1 20872346 20872346 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17248423 M 3202 1 0 "" nsv5562539 1 20872346 20872397 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899360 M 3202 1 0 "" nsv478723 1 20877147 20877147 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010858 M 9 1 0 "" NA18507 nsv1076225 1 20879999 20880400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762464 M 1 0 1 FAM43B KWP1 dgv23e212 1 20882153 20886151 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577772,esv3577770 M 873 0 3 "" 400038CK,400347VJ,401277RA esv3577769 1 20883422 20886151 CNV loss Uddin_et_al_2014 25503493 SNP array essv9807866,essv9807755,essv9808088,essv9807977,essv9807643,essv9807532 M 873 0 6 "" 400121PL,400333CC,400825TW,400880TM,401844ZD,401950MD nsv6322114 1 20886552 20898051 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057055 M 19652 0 1 "" nsv5829168 1 20888024 20905699 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466967 M 914 0 0 "" nsv5968933 1 20891009 20927170 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17366829 M 914 0 0 CDA nsv4518206 1 20893000 20900500 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966064 M 10847 1 0 "" nsv460729 1 20893965 20918912 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537251 M 1557 1 0 CDA HGDP00552 nsv545734 1 20893965 20918912 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173792 M 17421 1 0 CDA HGDP00552 nsv5429208 1 20894625 20894892 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899363 M 3202 0 1 "" nsv5828867 1 20900363 20902399 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456739 M 914 0 0 "" nsv6548871 1 20903754 20904147 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249990 M 19652 0 0 "" nsv4032768 1 20905912 20906371 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848873 M 10847 0 1 "" nsv4049628 1 20905921 20906480 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966065 M 10847 1 0 "" nsv5884621 1 20906149 20906544 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350195 M 914 0 1 "" nsv5424828 1 20906460 20910658 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899364 M 3202 0 1 "" esv3585424 1 20906505 20910704 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9882177 M 2504 0 1 "" HG02032 nsv6542790 1 20906528 20907522 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249991 M 19652 0 0 "" nsv1126981 1 20909296 20909347 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985270 M 2 0 1 "" KWS1 esv3663615 1 20910298 20910298 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486457 M 20 1 0 "" nsv5829004 1 20910964 20917330 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456799 M 914 0 0 CDA nsv1113085 1 20913191 20913257 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967976 M 2 0 1 "" KWS2 nsv5564602 1 20913605 20913662 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062231 M 35 0 1 "" HG00731 nsv5867790 1 20913605 20913662 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361487 M 914 0 1 "" esv3554566 1 20913605 20913663 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9753313 M 767 0 1 "" nsv1137739 1 20913605 20913663 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982116,nssv3969759 M 2 0 2 "" KWS1,KWS2 nsv3525550 1 20913605 20913663 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14353717,nssv14353714,nssv14353716,nssv14353715,nssv14353712,nssv14353713 M 9 0 6 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733 nsv3928168 1 20913605 20913663 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181100 M 1 0 1 "" HG002 nsv4449384 1 20913605 20913663 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15767245 M 1 0 1 "" nsv5982423 1 20913605 20913663 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530189 M 405 0 1 "" esv3682579 1 20913605 20913664 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467398 M 20 0 1 "" nsv3188071 1 20913606 20913664 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14416812,nssv14443912 M 9 0 0 "" HG00514,HG00733 nsv4744722 1 20913606 20913665 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16290949 M 25 0 1 "" nsv3321530 1 20913607 20913664 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477864,nssv14484559,nssv14486210,nssv14487104,nssv14473221,nssv14482527,nssv14482474,nssv14474351 M 14 0 8 "" HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878 nsv4046383 1 20913608 20913663 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848874 M 10847 0 1 "" nsv5429454 1 20913608 20913663 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899365 M 3202 0 1 "" nsv3047910 1 20913608 20913666 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14028505 M 2 0 1 "" NA12878 esv2750602 1 20914292 20915117 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv95034 M 51 0 1 "" 22231 nsv528156 1 20915701 20934796 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704704 M 2026 0 1 CDA nsv6546778 1 20917734 20918321 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249993 M 19652 0 0 CDA nsv4048632 1 20918667 20918732 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848875 M 10847 0 1 CDA nsv6318561 1 20922782 20945275 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199872 M 19652 1 0 CDA esv998962 1 20925389 20931167 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565384 M 3 0 1 CDA HuRef nsv5982518 1 20925849 20925981 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528128 M 405 0 1 CDA nsv5876495 1 20926110 20926159 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17351012 M 914 1 0 CDA nsv4761888 1 20926123 20926123 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16289747 M 25 1 0 CDA nsv5618778 1 20926164 20926164 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062110 M 35 1 0 CDA HG02818 nsv4040056 1 20927257 20935915 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848876 M 10847 0 1 CDA nsv4459936 1 20930666 20930667 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027349 M 10847 1 0 CDA nsv511682 1 20931626 20932807 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626320 M 1 0 1 CDA 1 nsv5424938 1 20931809 20932690 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899367 M 3202 0 1 CDA nsv1112526 1 20931900 20932700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994253,nssv3989672 M 2 0 2 CDA KWS1,KWS2 esv3554677 1 20931910 20932778 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9753424 M 767 0 1 CDA dgv31n209 1 20931912 20932710 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5882409,nsv5869913 M 914 0 2 CDA nsv3194067 1 20931957 20932691 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14353760,nssv14353758,nssv14353759,nssv14353757 M 9 0 4 CDA HG00513,HG00732,HG00733,NA19238 nsv6327733 1 20931970 20932689 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057082 M 19652 0 1 CDA dgv10n172 1 20931978 20932739 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4433028,nsv4433029,nsv4433031,nsv4433030 M 15 0 4 CDA BTQ055,MDQ010,MDQ045,SMI034 dgv33n166 1 20931979 20932699 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4045578,nsv4518135 M 10847 0 2 CDA nsv3321536 1 20931996 20932671 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474503,nssv14480950,nssv14473095 M 14 0 3 CDA HG01352,HG02059,NA12878 esv3666347 1 20932002 20932691 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488916 M 20 0 0 CDA nsv5577359 1 20932015 20932689 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062738 M 35 0 1 CDA HG00732 nsv5982519 1 20932015 20932690 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520252 M 405 0 1 CDA nsv3062870 1 20932017 20932692 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14017056 M 2 0 1 CDA NA12878 esv2662052 1 20932021 20932703 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6330699,essv5670435,essv5756384,essv6564038,essv6587964,essv5747584,essv5423115,essv6265404,essv6214037,essv5770146,essv6364970,essv6242935,essv6443022,essv5413866,essv5449560,essv6204799,essv5504469,essv5529439,essv5704637,essv6492742,essv6518215,essv6016217,essv5541555,essv6456623,essv6309141,essv6148007,essv6200201,essv6326930,essv5811096,essv5783168,essv6379903,essv6008394,essv6353329,essv5881823,essv5816528,essv5540643,essv6374313,essv5490529,essv5785715,essv5416571,essv6098042,essv5642986,essv5580091,essv6568029,essv5591420,essv5598538,essv5722306,essv6312618,essv5778072,essv5951665,essv6175850,essv6108595,essv6164775,essv6496663,essv5523972,essv6045619,essv5412726,essv6275823,essv5568623,essv5424286,essv5794174,essv6241040,essv5515735,essv6060776,essv6368083,essv5724648,essv5863752,essv5572605,essv5585858,essv5816688,essv5857844,essv5615755,essv6398621,essv6529888,essv5656480,essv6188391,essv5811222,essv6152435,essv5680691,essv6403490,essv6224087,essv5440277,essv6518744,essv5714832,essv6573247,essv5489417,essv6591096,essv6220008,essv6005883,essv5811874,essv6079307,essv6186558,essv5541113,essv6492211,essv6494487,essv5697499,essv6130991,essv6570891,essv6161004,essv5744037,essv6458202,essv5496598,essv6052811,essv5458729,essv6409483,essv5966325,essv6438354,essv6416548,essv5459012,essv5425926,essv5418410,essv6582095,essv5442437,essv5401619,essv6438164,essv6563347,essv5969357,essv5542101,essv5659744,essv6306421,essv5608227,essv6451269,essv6438711,essv6353846,essv6334263,essv5783140,essv6120057,essv5784312,essv6542303,essv5496811,essv6400914,essv5715935,essv5438604,essv6194858,essv6418450,essv6048428,essv6303497,essv5760311,essv6254947,essv5769073,essv5493535,essv6299749,essv5778151,essv6056620,essv6503564,essv5736333,essv5888779,essv5782020,essv5565651,essv6153110,essv6267779,essv6120485,essv6292225,essv5523510,essv6368023,essv5852592,essv5788383,essv5654792,essv6325124,essv6263204,essv6500341,essv6361825,essv5429995,essv5528281,essv5983099,essv5474373,essv5751143,essv5868366,essv6492796,essv5694999,essv5703696,essv6402968,essv6138679,essv6237024,essv6117694,essv6304936,essv6031034,essv5741046,essv6446467,essv5422410,essv5524287,essv6346408,essv6364101,essv5990544,essv6031650,essv6255633,essv5933672,essv6516888,essv5607865,essv5473856,essv5944129,essv5940836,essv5402906,essv5740556,essv5967351,essv6019783,essv5859251,essv6362714,essv5857210,essv6299388,essv6232916,essv5943530,essv5664725,essv5735089,essv5988819,essv6361014,essv5919387,essv6079603,essv6341898,essv6018103,essv5694564,essv5842995,essv6564891,essv6190086,essv5943189,essv6011390,essv6291874,essv6360073,essv6129397,essv6292633,essv6302367,essv6235589,essv6381478,essv5816332,essv5756679,essv6454477,essv6200060,essv5926916,essv5779017,essv6393006,essv6320451,essv5909672,essv6212909,essv5851825,essv6481797,essv5920190,essv5769349,essv5835891,essv5971355,essv6081416,essv5792848,essv5722882,essv5633996,essv6209410,essv6136286,essv5869539,essv5487006,essv6510741,essv5403437,essv6552307,essv5424711,essv5905508,essv6574576,essv6564016,essv6320404,essv5682478,essv6544710,essv5680664,essv6038952,essv6400883,essv6006923,essv5749467,essv6124623,essv6548793,essv5845284,essv6577306,essv5691789,essv5572999,essv6241710,essv5818983,essv6360623,essv6541489,essv5719383,essv5879759,essv6500839,essv5823925,essv6307078,essv6523695,essv5878348,essv5870497,essv6301018,essv6012887,essv6287642,essv5876053,essv6382905,essv6564496,essv6149811,essv6098705,essv6248588,essv5997307,essv6430305,essv6370159,essv6573741,essv5672844,essv6318683,essv6574194,essv5656889,essv5994467,essv5942273,essv5784967,essv5510105,essv6496266,essv5677097,essv6065949,essv6527287,essv6345672,essv5498011,essv5849793,essv5587418,essv6019561,essv5541944,essv6430975,essv5698404,essv5605354,essv6167763,essv5928710,essv6222217,essv6572781,essv6458803,essv6508337,essv6250228 M 1151 0 321 CDA HG00108,HG00114,HG00116,HG00118,HG00126,HG00131,HG00136,HG00137,HG00143,HG00146,HG00150,HG00151,HG00154,HG00156,HG00158,HG00159,HG00173,HG00174,HG00176,HG00177,HG00178,HG00179,HG00180,HG00181,HG00182,HG00186,HG00188,HG00190,HG00231,HG00232,HG00242,HG00243,HG00247,HG00251,HG00252,HG00253,HG00254,HG00260,HG00261,HG00262,HG00264,HG00265,HG00266,HG00267,HG00269,HG00271,HG00272,HG00273,HG00274,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00306,HG00310,HG00311,HG00312,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00330,HG00331,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00344,HG00346,HG00357,HG00366,HG00368,HG00369,HG00403,HG00404,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00472,HG00473,HG00475,HG00478,HG00479,HG00500,HG00501,HG00513,HG00530,HG00531,HG00533,HG00534,HG00553,HG00554,HG00556,HG00559,HG00565,HG00566,HG00577,HG00578,HG00584,HG00589,HG00592,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00613,HG00614,HG00619,HG00620,HG00625,HG00626,HG00629,HG00634,HG00635,HG00637,HG00638,HG00650,HG00651,HG00653,HG00656,HG00672,HG00683,HG00684,HG00689,HG00698,HG00699,HG00701,HG00707,HG00708,HG00732,HG00734,HG00740,HG01047,HG01048,HG01051,HG01060,HG01061,HG01066,HG01067,HG01070,HG01072,HG01073,HG01083,HG01107,HG01124,HG01125,HG01136,HG01137,HG01140,HG01148,HG01149,HG01173,HG01174,HG01188,HG01190,HG01350,HG01351,HG01354,HG01366,HG01374,HG01383,HG01437,HG01440,HG01461,HG01465,HG01489,HG01491,NA11893,NA11994,NA12058,NA12155,NA12273,NA12275,NA12340,NA12400,NA12718,NA18523,NA18530,NA18534,NA18536,NA18541,NA18543,NA18549,NA18557,NA18559,NA18561,NA18566,NA18576,NA18577,NA18579,NA18582,NA18595,NA18596,NA18597,NA18599,NA18602,NA18603,NA18612,NA18613,NA18615,NA18616,NA18619,NA18624,NA18628,NA18631,NA18633,NA18637,NA18638,NA18867,NA18868,NA18874,NA18908,NA18910,NA18941,NA18961,NA18963,NA18982,NA18987,NA18990,NA18999,NA19003,NA19004,NA19007,NA19009,NA19055,NA19056,NA19058,NA19064,NA19072,NA19080,NA19081,NA19082,NA19084,NA19085,NA19107,NA19130,NA19213,NA19247,NA19248,NA19312,NA19360,NA19373,NA19374,NA19377,NA19381,NA19383,NA19391,NA19395,NA19397,NA19401,NA19428,NA19431,NA19440,NA19443,NA19445,NA19452,NA19453,NA19455,NA19457,NA19461,NA19468,NA19470,NA19473,NA19648,NA19652,NA19654,NA19655,NA19657,NA19661,NA19663,NA19664,NA19675,NA19676,NA19678,NA19679,NA19681,NA19684,NA19685,NA19700,NA19704,NA19712,NA19713,NA19719,NA19722,NA19723,NA19726,NA19749,NA19750,NA19755,NA19762,NA19773,NA19774,NA19780,NA19834,NA19916,NA19920,NA19982,NA20510,NA20518,NA20586,NA20778,NA20819 nsv3176248 1 20932023 20932698 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14443039 M 9 0 0 CDA HG00733 nsv4730481 1 20932054 20932727 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285651 M 25 0 1 CDA esv2853125 1 20932152 20932827 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7122692 M 1 0 1 CDA HuRef nsv5829006 1 20932510 20933851 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467035 M 914 0 0 CDA esv24339 1 20932517 20933644 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19697 M 40 0 1 CDA NA18517 esv3585425 1 20932530 20933743 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9882179,essv9882180,essv9882178,essv9882182,essv9882184,essv9882181,essv9882185,essv9882183 M 2504 0 8 CDA HG00581,HG01046,HG02072,HG02981,HG03951,NA18517,NA18561,NA18574 nsv5430096 1 20932548 20933741 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899368 M 3202 1 0 CDA nsv6316061 1 20932555 20933793 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199882 M 19652 1 0 CDA nsv5874328 1 20932556 20933799 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368946 M 914 0 1 CDA nsv5416280 1 20932572 20933837 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899369 M 3202 0 1 CDA nsv6334501 1 20932590 20933782 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057084 M 19652 0 1 CDA esv2667482 1 20932686 20933893 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6196714,essv5518407,essv5433646,essv5544381,essv6137654,essv6560816 M 1151 0 6 CDA HG00578,HG00581,HG00635,NA11920,NA18561,NA18574 nsv5982520 1 20932687 20933672 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529454 M 405 0 1 CDA nsv834369 1 20936263 21106330 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443885,nssv1443896 M 95 0 2 CDA,DDOST,HP1BP3,KIF17,MIR6084,PINK1,SH2D5 nsv5955018 1 20936766 20936766 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350283 M 914 1 0 CDA nsv5428570 1 20938068 20939351 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899371 M 3202 0 1 CDA nsv5677040 1 20941978 20941978 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205685,nssv17181398 M 3202 2 0 CDA nsv3221789 1 20944101 20945472 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267951 M 9 1 0 CDA NA19239 nsv5870217 1 20944467 20945627 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359234 M 914 0 1 CDA nsv5982286 1 20944467 20945628 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519956 M 405 0 1 CDA nsv4036288 1 20944468 20945628 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848880 M 10847 0 1 CDA esv3371341 1 20944728 20944747 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593746,essv9593735,essv9593713,essv9593724 M 185 4 0 CDA NA11881,NA12287,NA12814,NA12815 esv3663638 1 20944737 20944737 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486478 M 20 1 0 CDA nsv3932519 1 20944737 20944737 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192629 M 1 1 0 CDA HG002 nsv4444796 1 20944737 20944737 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766678 M 1 1 0 CDA nsv5396535 1 20944737 20944737 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899372 M 3202 1 0 CDA nsv5620254 1 20944737 20944737 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062751 M 35 1 0 CDA NA19239 nsv5963184 1 20944737 20944737 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17356958 M 914 1 0 CDA nsv6055354 1 20944737 20944737 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523745 M 405 1 0 CDA esv3305877 1 20944737 20944738 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7767205,essv7766435,essv7769259,essv7765711,essv7768893,essv7766905 M 185 6 0 CDA NA11881,NA11931,NA12045,NA12287,NA12814,NA12815 nsv4460588 1 20944737 20944738 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028549 M 10847 1 0 CDA nsv2801512 1 20944738 20944738 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685025 M 2 1 0 CDA nsv3321538 1 20944738 20944738 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14482760,nssv14490407,nssv14481212 M 14 3 0 CDA CHM1,HG00268,HG02818 nsv3056781 1 20944742 20944742 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025602 M 2 1 0 CDA CHM1 nsv4760907 1 20944746 20944746 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16286055 M 25 1 0 CDA nsv3561924 1 20944751 20944751 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14353794 M 9 1 0 CDA NA19239 nsv5682491 1 20944751 20944751 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17182741,nssv17205687 M 3202 2 0 CDA nsv6245251 1 20944751 20944751 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857518 M 1021 1 0 CDA nsv5959652 1 20947061 20947061 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17362520 M 914 1 0 "" nsv6319714 1 20947141 20948661 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057089 M 19652 0 1 "" nsv1113086 1 20947821 20947889 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967977 M 2 0 1 "" KWS2 esv3359351 1 20949877 20951332 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652061 M 185 1 0 "" NA19240 esv2633764 1 20949897 20950285 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5230908 M 1 1 0 "" NA18507 nsv4759588 1 20949977 20949977 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16283971 M 25 1 0 "" nsv5982430 1 20949979 20950220 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17536989 M 405 1 0 "" dgv134n152 1 20949998 20950257 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3208349,nsv3207728 M 9 0 6 "" HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4045434 1 20950019 20951278 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848881 M 10847 0 1 "" nsv3522378 1 20950239 20950239 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386176 M 9 1 0 "" NA19240 nsv3947475 1 20950239 20950239 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192630 M 1 1 0 "" HG002 nsv4444797 1 20950239 20950239 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15768274 M 1 1 0 "" nsv5618191 1 20950239 20950239 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062752 M 35 1 0 "" HG00731 nsv6053099 1 20950239 20950239 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522794 M 405 1 0 "" nsv3179893 1 20950239 20951184 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413792 M 9 0 0 "" HG00514 nsv2801513 1 20950240 20950240 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691788,nssv13678288 M 2 2 0 "" nsv3321539 1 20950240 20950240 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472515,nssv14490831,nssv14478532,nssv14475527,nssv14481456,nssv14491959,nssv14484793,nssv14479753,nssv14491741,nssv14481529,nssv14486379,nssv14474045,nssv14486233 M 14 13 0 "" CHM1,CHM13,HG00268,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3053519 1 20950244 20950244 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017283 M 2 1 0 "" NA12878 nsv3065730 1 20950249 20950249 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034196 M 2 1 0 "" CHM1 nsv3522859 1 20950256 20950256 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438807 M 9 1 0 "" HG00733 esv2499678 1 20951823 20953416 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5192304 M 1 0 1 "" NA18507 esv3920 1 20952262 20952778 CNV loss Wang_et_al_2008 18987735 Sequencing essv26361 M 1 0 1 "" YH nsv1077204 1 20952426 20952651 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768524 M 1 0 1 "" KWP1 esv3682593 1 20952456 20952638 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467410 M 20 0 1 "" nsv4748997 1 20952486 20952570 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16283114 M 25 0 1 "" nsv4516546 1 20952487 20952757 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848882 M 10847 0 1 "" esv1075995 1 20952488 20952668 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3629701 M 2 0 1 "" HuRef dgv2n137 1 20952490 20952565 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nsv2800624,nsv2801514 M 2 0 2 "" nsv3321739 1 20952490 20952565 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489886,nssv14474242,nssv14472543,nssv14486160,nssv14483227,nssv14475660,nssv14490464,nssv14475797,nssv14480805,nssv14483536,nssv14473591 M 14 0 11 "" CHM1,CHM13,HG00268,HG00733,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 dgv135n152 1 20952496 20952591 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280550,nsv3280842 M 9 0 3 "" HG00514,HG00733,NA19240 nsv5582194 1 20952502 20952573 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062754 M 35 0 1 "" HG03486 nsv3062873 1 20952515 20952588 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14036666 M 2 0 1 "" NA12878 nsv5566318 1 20952526 20952621 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062755 M 35 0 1 "" HG00731 nsv1153579 1 20952531 20952638 CNV deletion John_et_al_2014 26484159 Sequencing nssv4002232 M 1 0 1 "" KWB1 nsv1114943 1 20952544 20952675 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975240 M 2 0 1 "" KWS1 nsv4449385 1 20952569 20952665 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15761319 M 1 0 1 "" nsv5982348 1 20952572 20952667 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527631 M 405 0 1 "" nsv3941981 1 20952573 20952665 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181101 M 1 0 1 "" HG002 nsv3196590 1 20952680 20952765 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14354513 M 9 0 1 "" HG00512 nsv4561707 1 20955873 20955874 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028560 M 10847 1 0 "" nsv4569950 1 20955906 20955907 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028570 M 10847 1 0 "" nsv4557917 1 20957713 20957714 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028581 M 10847 1 0 "" nsv6324702 1 20959794 20960293 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057090 M 19652 0 1 MIR6084,PINK1 nsv1126183 1 20959900 20960600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984412 M 2 0 1 MIR6084,PINK1 KWS1 nsv1076232 1 20960099 20960800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764091 M 1 0 1 MIR6084,PINK1 KWP1 esv3663654 1 20962165 20962165 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486492 M 20 1 0 PINK1 nsv6316404 1 20964671 20968750 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057091 M 19652 0 1 PINK1 nsv4739624 1 20969555 20969630 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273868 M 25 0 1 PINK1 nsv1137740 1 20972306 20972374 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985271,nssv3967978 M 2 0 2 PINK1 KWS1,KWS2 nsv5982350 1 20973431 20973501 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519491 M 405 0 1 PINK1 nsv6327187 1 20973655 20978502 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199884 M 19652 1 0 DDOST,PINK1 nsv1003348 1 20975463 21041555 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3469110 M 11257 1 0 DDOST,KIF17,PINK1 nsv1122307 1 20978132 20978183 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967979,nssv3982422 M 2 0 2 "" KWS1,KWS2 nsv5425433 1 20980690 20980838 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899378 M 3202 1 0 DDOST nsv5418514 1 20991255 20992706 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899379 M 3202 0 1 KIF17 nsv5426947 1 20992049 21004028 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899380 M 3202 0 1 KIF17 esv3585428 1 20992086 21004063 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9883244,essv9883243 M 2504 0 2 KIF17 HG02464,HG03028 nsv6330557 1 20994617 20995871 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057100 M 19652 0 1 KIF17 esv3663662 1 20994815 20994815 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486500 M 20 1 0 KIF17 nsv522796 1 20994952 21002726 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698440 M 2026 0 1 KIF17 nsv4460449 1 20997121 20997122 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028590 M 10847 1 0 KIF17 esv3585429 1 21003860 21009758 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9883246,essv9883245 M 2504 0 2 KIF17 NA19917,NA21106 nsv5422453 1 21004335 21010174 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899381 M 3202 0 1 KIF17 nsv4047402 1 21005645 21005752 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848883 M 10847 0 1 KIF17 nsv5427202 1 21007670 21007759 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899382 M 3202 0 1 KIF17 nsv5424748 1 21009378 21011301 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899383 M 3202 0 1 KIF17 nsv4037194 1 21009836 21010454 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848884 M 10847 0 1 KIF17 nsv5577568 1 21010341 21010451 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062773 M 35 0 1 KIF17 HG03486 nsv5415253 1 21010341 21010452 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899384 M 3202 0 1 KIF17 nsv5874214 1 21010341 21010453 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358938 M 914 0 1 KIF17 nsv4051002 1 21010344 21010453 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848885 M 10847 0 1 KIF17 nsv520013 1 21011182 21054726 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697177 M 2026 0 1 KIF17,SH2D5 nsv5420305 1 21011513 21012537 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899386 M 3202 0 1 KIF17 nsv5423655 1 21012622 21013878 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899387 M 3202 0 1 KIF17 nsv5432355 1 21014440 21016680 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899388 M 3202 0 1 KIF17 esv2667782 1 21018054 21019463 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5646836,essv5602906,essv5731404,essv6414528,essv6557917,essv5691986,essv6182331,essv6594100,essv5928540,essv6214188,essv5780634,essv6092160,essv6369625,essv6292798,essv6494223,essv5547289,essv5883895,essv6400707,essv5798637,essv5863408,essv6550563,essv5658876,essv5780664,essv5525773 M 1151 0 24 KIF17 NA10847,NA11930,NA11932,NA11994,NA12348,NA12748,NA12761,NA12827,NA12829,NA12889,NA18519,NA18522,NA18547,NA18550,NA18572,NA18608,NA18853,NA18912,NA18943,NA18952,NA18956,NA20761,NA20772,NA20812 nsv4047915 1 21029658 21030022 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966066 M 10847 1 0 KIF17 nsv6326726 1 21029674 21030060 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199889 M 19652 1 0 KIF17 nsv6058380 1 21029795 21029795 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524561 M 405 1 0 KIF17 nsv4047350 1 21029992 21030047 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966067 M 10847 1 0 KIF17 nsv6042081 1 21029996 21029996 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518356 M 405 1 0 KIF17 esv3682604 1 21030171 21030258 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467420 M 20 0 1 KIF17 nsv5420758 1 21031393 21036131 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899389 M 3202 0 1 KIF17 esv3585430 1 21032353 21033199 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9883247 M 2504 0 1 KIF17 HG03714 nsv5426340 1 21032512 21033235 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899390 M 3202 0 1 KIF17 nsv1113087 1 21032857 21032931 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967980 M 2 0 1 KIF17 KWS2 nsv4047434 1 21034168 21053825 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848886 M 10847 0 1 KIF17,SH2D5 nsv6331693 1 21034168 21053825 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057117 M 19652 0 1 KIF17,SH2D5 nsv5422956 1 21036323 21039946 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899391 M 3202 0 1 KIF17 nsv3221399 1 21038466 21042338 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271711 M 9 1 0 KIF17 HG00512 nsv5883327 1 21039051 21039117 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355662 M 914 0 1 KIF17 esv3666395 1 21039053 21039147 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16488960 M 20 0 0 KIF17 nsv3231646 1 21039080 21039208 OTHER inversion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14354562,nssv14354563 M 9 0 0 KIF17 HG00732,HG00733 nsv2800626 1 21039081 21039081 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694136,nssv13693822 M 2 2 0 KIF17 nsv3322160 1 21039081 21039081 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476861,nssv14491552,nssv14482144,nssv14477536,nssv14483919,nssv14475045 M 14 6 0 KIF17 CHM1,CHM13,HG00514,HG02818,HG04217,NA19434 nsv3540633 1 21039101 21039101 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381802,nssv14438808 M 9 2 0 KIF17 HG00733,NA19240 nsv5982522 1 21039119 21039171 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530669 M 405 0 1 KIF17 nsv3538868 1 21039125 21039125 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413794 M 9 1 0 KIF17 HG00514 nsv5620630 1 21039125 21039125 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062461 M 35 1 0 KIF17 HG00732 nsv5618353 1 21039142 21039142 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062462 M 35 1 0 KIF17 HG02818 nsv3322161 1 21039176 21039176 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483384 M 14 1 0 KIF17 NA19434 nsv3322003 1 21039209 21039209 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480074,nssv14477396 M 14 2 0 KIF17 HG00514,NA19434 nsv3540367 1 21039229 21039229 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413795 M 9 1 0 KIF17 HG00514 nsv5620034 1 21039231 21039231 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062463 M 35 1 0 KIF17 NA19239 nsv3536579 1 21039333 21039333 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413796,nssv14438809 M 9 2 0 KIF17 HG00514,HG00733 nsv5950776 1 21039334 21039334 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17369433 M 914 1 0 KIF17 nsv6043720 1 21039334 21039334 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533907 M 405 1 0 KIF17 nsv2801517 1 21039335 21039335 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13707611 M 2 1 0 KIF17 nsv3322004 1 21039335 21039335 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486125,nssv14487459,nssv14484622,nssv14477642,nssv14472242,nssv14491319,nssv14482681,nssv14485921 M 14 8 0 KIF17 CHM1,CHM13,HG00268,HG00514,HG02818,HG04217,NA19240,NA19434 nsv5620030 1 21039338 21039338 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062465,nssv17062464 M 35 2 0 KIF17 HG00732,NA19239 nsv3321741 1 21039357 21039357 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487788 M 14 1 0 KIF17 NA19240 nsv4047226 1 21040411 21040586 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966068 M 10847 1 0 KIF17 nsv6318735 1 21040521 21041224 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18056882 M 19652 0 1 KIF17 nsv5427976 1 21040546 21041055 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899392 M 3202 1 0 KIF17 nsv6542533 1 21041702 21117488 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250013 M 19652 0 0 HP1BP3,KIF17,SH2D5 nsv5428835 1 21042134 21043967 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899393 M 3202 0 1 KIF17 nsv4050813 1 21049872 21049989 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848888 M 10847 0 1 SH2D5 nsv4042684 1 21059199 21059264 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848889 M 10847 0 1 "" nsv5982294 1 21059950 21060057 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519971 M 405 0 1 "" nsv5868500 1 21059970 21060022 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354699 M 914 0 1 "" nsv6324639 1 21063053 21067473 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057142 M 19652 0 1 "" nsv4559393 1 21073094 21073095 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028618 M 10847 1 0 HP1BP3 nsv6549417 1 21074971 21076038 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250022 M 19652 0 0 HP1BP3 nsv6547458 1 21076828 21077329 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250023 M 19652 0 0 HP1BP3 nsv6541246 1 21083930 21084639 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250025 M 19652 0 0 HP1BP3 nsv5742 1 21084887 21120011 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3942 M 9 1 0 HP1BP3 NA12878 esv3577773 1 21086096 21095516 CNV loss Uddin_et_al_2014 25503493 SNP array essv9808199 M 873 0 1 HP1BP3 401357MH nsv6551773 1 21086459 21087036 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250026 M 19652 0 0 HP1BP3 nsv6538072 1 21090613 21092999 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250029 M 19652 0 0 HP1BP3 nsv6540475 1 21090846 21091261 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250030 M 19652 0 0 HP1BP3 nsv3203268 1 21095843 21096117 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14354370,nssv14354629,nssv14354627,nssv14354625,nssv14354628,nssv14354626 M 9 0 6 HP1BP3 HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4038104 1 21098845 21098943 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966069 M 10847 1 0 HP1BP3 nsv5419213 1 21098845 21098943 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899394 M 3202 1 0 HP1BP3 nsv4459942 1 21103451 21103452 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029192 M 10847 1 0 HP1BP3 nsv4566448 1 21108633 21108634 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029202 M 10847 1 0 HP1BP3 nsv1075295 1 21113199 21113800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772955 M 1 0 1 "" KWP1 nsv5691174 1 21114709 21114709 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17182780 M 3202 1 0 "" nsv5403468 1 21114709 21114711 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899395 M 3202 1 0 "" nsv6538528 1 21116468 21116926 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250033 M 19652 0 0 "" nsv6329864 1 21117068 21122522 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057169 M 19652 0 1 "" nsv5881909 1 21118016 21118517 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350909 M 914 0 1 "" nsv6550671 1 21120838 21121466 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250034 M 19652 0 0 "" nsv4033196 1 21120985 21129150 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848890 M 10847 0 1 "" nsv6320719 1 21122949 21123483 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199900 M 19652 1 0 "" nsv4042278 1 21123020 21123455 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966070 M 10847 1 0 "" nsv5432510 1 21123020 21123460 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899396 M 3202 1 0 "" nsv5965908 1 21123305 21123305 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351156 M 914 1 0 "" nsv6320897 1 21123305 21125334 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057173 M 19652 0 1 "" nsv4043823 1 21125833 21126451 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848891 M 10847 0 1 "" nsv4460460 1 21130872 21130873 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029212 M 10847 1 0 "" nsv5682891 1 21130889 21130889 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205688,nssv17182441 M 3202 2 0 "" nsv5402494 1 21130889 21130940 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899397 M 3202 1 0 "" nsv5565486 1 21134396 21134456 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062606 M 35 0 1 EIF4G3 HG00171 nsv6060134 1 21134399 21134399 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520992 M 405 1 0 EIF4G3 nsv2801269 1 21134446 21134446 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682671 M 2 1 0 EIF4G3 nsv3321551 1 21134446 21134446 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473567 M 14 1 0 EIF4G3 CHM13 nsv4518284 1 21134464 21134543 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848892 M 10847 0 1 EIF4G3 nsv4459943 1 21138092 21138093 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029223 M 10847 1 0 EIF4G3 nsv5982437 1 21140220 21140290 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537171 M 405 0 1 EIF4G3 nsv6245262 1 21141238 21141238 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857519 M 1021 1 0 EIF4G3 nsv6053733 1 21141817 21141817 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520318 M 405 1 0 EIF4G3 nsv3278669 1 21142146 21142272 CNV sva deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384514 M 9 0 1 EIF4G3 NA19240 nsv5584503 1 21142147 21142319 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062607 M 35 0 1 EIF4G3 NA19240 nsv5982526 1 21142301 21142522 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528307 M 405 0 1 EIF4G3 nsv5609901 1 21142373 21142373 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062608 M 35 1 0 EIF4G3 HG00171 nsv5982527 1 21142445 21142619 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530165 M 405 0 1 EIF4G3 esv1356855 1 21142549 21142991 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3611504 M 2 0 1 EIF4G3 HuRef nsv5982357 1 21142562 21142614 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526416 M 405 0 1 EIF4G3 nsv5982438 1 21142815 21142870 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521705 M 405 0 1 EIF4G3 nsv5982528 1 21142860 21142987 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529778 M 405 0 1 EIF4G3 nsv6542068 1 21144323 21144999 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250035 M 19652 0 0 EIF4G3 nsv4571040 1 21157205 21157206 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027359 M 10847 1 0 EIF4G3 nsv5549594 1 21157298 21157340 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899398 M 3202 1 0 EIF4G3 nsv4535016 1 21157340 21157341 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027368 M 10847 1 0 EIF4G3 nsv5724769 1 21157359 21157359 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17234873,nssv17247953 M 3202 2 0 EIF4G3 nsv5562165 1 21157359 21157410 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899399 M 3202 1 0 EIF4G3 nsv5676861 1 21161914 21161914 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17181088 M 3202 1 0 EIF4G3 nsv5408047 1 21161914 21161965 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899400 M 3202 1 0 EIF4G3 nsv6329859 1 21163351 21165601 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057186 M 19652 0 1 EIF4G3 nsv6044841 1 21168375 21168375 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530369 M 405 1 0 EIF4G3 nsv6551769 1 21174522 21175274 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250622 M 19652 0 0 EIF4G3 nsv6553947 1 21174799 21174943 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250623 M 19652 0 0 EIF4G3 nsv5675466 1 21180572 21180572 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17182022 M 3202 1 0 EIF4G3 nsv474786 1 21183656 21183656 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019071 M 9 1 0 EIF4G3 NA19240 nsv6329643 1 21191894 21193493 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057204 M 19652 0 1 EIF4G3 nsv4035492 1 21198326 21198472 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848893 M 10847 0 1 EIF4G3 nsv4040825 1 21199399 21199456 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848894 M 10847 0 1 EIF4G3 nsv6550400 1 21201507 21202160 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250626 M 19652 0 0 EIF4G3 nsv6324558 1 21213093 21213614 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057216 M 19652 0 1 EIF4G3 nsv6245273 1 21221588 21221588 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17857982 M 1021 1 0 EIF4G3 nsv4563711 1 21224877 21224878 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027379 M 10847 1 0 EIF4G3 nsv4036620 1 21227406 21227480 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848895 M 10847 0 1 EIF4G3 nsv4460467 1 21237191 21237192 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027390 M 10847 1 0 EIF4G3 nsv5571362 1 21246359 21246513 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062625 M 35 0 1 EIF4G3 HG03683 nsv5874222 1 21246359 21246513 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358027 M 914 0 1 EIF4G3 esv2669682 1 21246359 21246520 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5778335,essv5924971,essv6064844,essv5988728 M 1151 0 4 EIF4G3 HG00136,HG00284,HG00318,HG00323 esv3555121 1 21246359 21246520 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9753868 M 767 0 1 EIF4G3 nsv4517950 1 21246359 21246520 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848896 M 10847 0 1 EIF4G3 nsv5414836 1 21246359 21246520 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899403 M 3202 0 1 EIF4G3 nsv6316244 1 21246359 21246520 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057234 M 19652 0 1 EIF4G3 nsv4050040 1 21248168 21249522 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848898 M 10847 0 1 EIF4G3 nsv4460238 1 21249946 21249947 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027399 M 10847 1 0 EIF4G3 nsv5877238 1 21252361 21252593 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17359376 M 914 1 0 EIF4G3 nsv6320360 1 21261262 21261993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057241 M 19652 0 1 EIF4G3 nsv4459949 1 21263673 21263674 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027416 M 10847 1 0 EIF4G3 nsv6540879 1 21265315 21266656 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247837 M 19652 0 0 EIF4G3 nsv6547123 1 21265522 21266368 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247838 M 19652 0 0 EIF4G3 nsv6330104 1 21268044 21268407 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057252 M 19652 0 1 EIF4G3 nsv6047700 1 21270472 21270472 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535688 M 405 1 0 EIF4G3 dgv112n223 1 21270936 21272097 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6540233,nsv6547397 M 19652 0 0 EIF4G3 nsv6321305 1 21277594 21278293 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057256 M 19652 0 1 EIF4G3 nsv6537942 1 21278662 21279292 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247842 M 19652 0 0 EIF4G3 nsv6537924 1 21280970 21282016 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247843 M 19652 0 0 EIF4G3 nsv6330270 1 21282809 21284349 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057263 M 19652 0 1 EIF4G3 nsv6055848 1 21284733 21284733 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518066 M 405 1 0 EIF4G3 nsv4051068 1 21290703 21291048 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848899 M 10847 0 1 EIF4G3 nsv5417013 1 21290703 21291048 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899404 M 3202 0 1 EIF4G3 esv3663684 1 21292127 21292127 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486519 M 20 1 0 EIF4G3 nsv3561926 1 21292127 21292127 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14354423 M 9 1 0 EIF4G3 NA19240 nsv3925327 1 21292127 21292127 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192649 M 1 1 0 EIF4G3 HG002 nsv4444863 1 21292127 21292127 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15764126 M 1 1 0 EIF4G3 nsv5610810 1 21292127 21292127 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062630 M 35 1 0 EIF4G3 NA19238 nsv5882413 1 21292127 21292180 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17360818 M 914 1 0 EIF4G3 nsv4518431 1 21292127 21292181 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966071 M 10847 1 0 EIF4G3 nsv5414887 1 21292127 21292181 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902277 M 3202 1 0 EIF4G3 nsv2800977 1 21292128 21292128 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693184 M 2 1 0 EIF4G3 nsv3322171 1 21292128 21292128 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485334,nssv14484013,nssv14484070 M 14 3 0 EIF4G3 CHM1,HG00268,HG02106 nsv3175821 1 21292143 21292196 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378769 M 9 0 0 EIF4G3 NA19240 nsv6055672 1 21292145 21292145 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532312 M 405 1 0 EIF4G3 nsv4766476 1 21292154 21292154 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16290894 M 25 1 0 EIF4G3 nsv3060782 1 21292155 21292155 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14030889 M 2 1 0 EIF4G3 CHM1 nsv5829327 1 21296521 21298720 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452201 M 914 0 0 EIF4G3 esv3585432 1 21296554 21298231 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9883249,essv9883252,essv9883251,essv9883250 M 2504 0 4 EIF4G3 HG03021,HG03631,HG03775,NA20896 nsv5877830 1 21296559 21298228 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353455 M 914 0 1 EIF4G3 nsv5421107 1 21296582 21298197 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902278 M 3202 0 1 EIF4G3 nsv6549811 1 21297004 21298386 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247845 M 19652 0 0 EIF4G3 nsv1012238 1 21299363 21366757 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700854 M 11257 0 1 EIF4G3 nsv4748531 1 21307941 21308068 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285707 M 25 0 1 EIF4G3 nsv2800978 1 21307985 21308054 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13678102 M 2 0 1 EIF4G3 nsv3322011 1 21307985 21308054 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473635,nssv14486890,nssv14476703,nssv14473959 M 14 0 4 EIF4G3 CHM1,HG00268,HX1,NA19240 nsv3940052 1 21308013 21308110 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181118 M 1 0 1 EIF4G3 HG002 esv3682613 1 21308013 21308173 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467428 M 20 0 1 EIF4G3 nsv3280119 1 21308015 21308112 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378467 M 9 0 1 EIF4G3 NA19240 nsv5584436 1 21308048 21308109 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062634 M 35 0 1 EIF4G3 HG00731 nsv3937570 1 21308048 21308110 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181124 M 1 0 1 EIF4G3 HG002 nsv2800979 1 21308062 21308123 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13693913 M 2 0 1 EIF4G3 nsv3321744 1 21308062 21308123 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472523,nssv14474546,nssv14476566,nssv14482969,nssv14488239,nssv14484835,nssv14488016,nssv14473864 M 14 0 8 EIF4G3 CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,NA12878 nsv1151121 1 21308093 21308149 CNV deletion John_et_al_2014 26484159 Sequencing nssv4002053 M 1 0 1 EIF4G3 KWB1 nsv5982361 1 21308093 21308154 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521427 M 405 0 1 EIF4G3 nsv1114945 1 21308101 21308168 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975242 M 2 0 1 EIF4G3 KWS1 nsv3049090 1 21308170 21308232 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14025337 M 2 0 1 EIF4G3 NA12878 nsv6320313 1 21310699 21311122 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057350 M 19652 0 1 EIF4G3 nsv1009855 1 21313844 21394217 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700855 M 11257 0 1 EIF4G3 nsv5614937 1 21315549 21315549 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062636 M 35 1 0 EIF4G3 HG03125 nsv2800980 1 21315550 21315550 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681730 M 2 1 0 EIF4G3 nsv4766121 1 21315551 21315551 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265120 M 25 1 0 EIF4G3 nsv3541392 1 21315558 21315558 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392257 M 9 1 0 EIF4G3 NA19240 nsv6040464 1 21315563 21315563 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523962 M 405 1 0 EIF4G3 nsv5618275 1 21315573 21315573 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062637 M 35 1 0 EIF4G3 HG00731 nsv2801520 1 21315575 21315575 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680304 M 2 1 0 EIF4G3 nsv3321746 1 21315575 21315575 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474159,nssv14482297,nssv14477419,nssv14472470,nssv14472070,nssv14491309,nssv14486737,nssv14480959,nssv14484273 M 14 9 0 EIF4G3 CHM1,CHM13,HG00268,HG00733,HG02106,HG02818,NA12878,NA19240,NA19434 nsv3541872 1 21315577 21315577 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438811 M 9 1 0 EIF4G3 HG00733 nsv4047601 1 21316684 21318311 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848900 M 10847 0 1 EIF4G3 nsv6321061 1 21319725 21328666 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057345 M 19652 0 1 EIF4G3 nsv4569650 1 21322314 21322315 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027427 M 10847 1 0 EIF4G3 nsv5720440 1 21322333 21322333 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17245035,nssv17250995 M 3202 2 0 EIF4G3 nsv5559779 1 21322333 21322384 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902280 M 3202 1 0 EIF4G3 nsv6330216 1 21324294 21328693 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057311 M 19652 0 1 EIF4G3 nsv5559905 1 21324942 21325331 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902281 M 3202 0 0 EIF4G3 nsv5534890 1 21325328 21325328 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902282 M 3202 1 0 EIF4G3 esv3387129 1 21327088 21327096 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863680 M 185 1 0 EIF4G3 NA12005 nsv5693594 1 21334030 21334030 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17182928 M 3202 1 0 EIF4G3 nsv6245284 1 21334030 21334030 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858032 M 1021 1 0 EIF4G3 nsv6331167 1 21334861 21336179 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057324 M 19652 0 1 EIF4G3 nsv5428291 1 21335889 21336027 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902284 M 3202 1 0 EIF4G3 nsv6546428 1 21336168 21336927 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247853 M 19652 0 0 EIF4G3 nsv1125320 1 21340058 21340148 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3983492 M 2 0 0 EIF4G3 KWS2 nsv6546973 1 21340700 21341425 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247855 M 19652 0 0 EIF4G3 nsv4040041 1 21343319 21344122 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848901 M 10847 0 1 EIF4G3 esv2675549 1 21343961 21345038 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5864480,essv5880328,essv5523132 M 1151 0 3 EIF4G3 NA19373,NA19374,NA19463 esv3585433 1 21344046 21344973 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9883253,essv9883255,essv9883254,essv9883257,essv9883256 M 2504 0 5 EIF4G3 HG03117,HG03297,NA19374,NA19463,NA20320 nsv4517902 1 21344068 21344935 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848902 M 10847 0 1 EIF4G3 nsv5417228 1 21344068 21344935 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902285 M 3202 0 1 EIF4G3 esv3585434 1 21346279 21346899 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9883258,essv9883259 M 2504 0 2 EIF4G3 NA19072,NA19374 esv2672607 1 21346335 21346941 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5786414 M 1151 0 1 EIF4G3 NA19374 nsv5415562 1 21346335 21346941 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902286 M 3202 0 1 EIF4G3 nsv1133821 1 21347431 21347490 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970145 M 2 0 1 EIF4G3 KWS2 esv3585436 1 21356815 21358933 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9883260 M 2504 0 1 EIF4G3 HG02971 nsv5427380 1 21356822 21358948 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902287 M 3202 0 1 EIF4G3 nsv4570571 1 21359695 21359696 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027448 M 10847 1 0 EIF4G3 nsv4460606 1 21366281 21366282 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027458 M 10847 1 0 EIF4G3 nsv6331684 1 21369286 21379557 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057357 M 19652 0 1 EIF4G3 nsv4045621 1 21370352 21371573 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848903 M 10847 0 1 EIF4G3 nsv6335020 1 21370352 21371573 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057360 M 19652 0 1 EIF4G3 nsv6245295 1 21370683 21370683 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858109 M 1021 1 0 EIF4G3 nsv4460475 1 21372717 21372718 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029237 M 10847 1 0 EIF4G3 nsv6323577 1 21376394 21382693 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199925 M 19652 1 0 EIF4G3 nsv5582972 1 21379773 21379985 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062242 M 35 0 1 EIF4G3 HG03065 nsv5982537 1 21379986 21380165 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535801 M 405 0 1 EIF4G3 nsv5570471 1 21380223 21380349 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062244 M 35 0 1 EIF4G3 HG02011 nsv5675656 1 21382464 21382464 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17182058 M 3202 1 0 EIF4G3 nsv5397256 1 21382464 21382515 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902288 M 3202 1 0 EIF4G3 nsv5967230 1 21394868 21394868 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17362764 M 914 1 0 EIF4G3 nsv6539940 1 21398298 21399223 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247867 M 19652 0 0 EIF4G3 nsv834380 1 21399270 21574441 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1443907 M 95 1 0 ECE1,EIF4G3 nsv6536560 1 21407148 21407645 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247868 M 19652 0 0 EIF4G3 nsv6542201 1 21408146 21409104 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247869 M 19652 0 0 EIF4G3 nsv6537190 1 21412245 21413169 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247872 M 19652 0 0 EIF4G3 nsv3203033 1 21414046 21414663 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355086 M 9 0 1 EIF4G3 HG00512 nsv5982309 1 21419984 21420121 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522448 M 405 0 1 EIF4G3 nsv6327597 1 21420054 21420648 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057388 M 19652 0 1 EIF4G3 nsv5427872 1 21420542 21421211 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902289 M 3202 0 1 EIF4G3 nsv5580719 1 21420595 21421257 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062265 M 35 0 1 EIF4G3 HG03486 nsv4044485 1 21425787 21426765 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848904 M 10847 0 1 EIF4G3 nsv5420998 1 21425787 21426765 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901043 M 3202 0 1 EIF4G3 nsv6322924 1 21425787 21426765 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057396 M 19652 0 1 EIF4G3 nsv3553559 1 21426493 21426493 CNV line1 insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376053 M 9 1 0 EIF4G3 NA19240 nsv160811 1 21428069 21431373 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179389 M 24 EIF4G3 nsv6330379 1 21433145 21437926 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057400 M 19652 0 1 EIF4G3 nsv6538931 1 21435421 21436417 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247873 M 19652 0 0 EIF4G3 esv3585437 1 21437150 21443545 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9883261 M 2504 0 1 EIF4G3 HG03259 nsv4036282 1 21437247 21443648 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848905 M 10847 0 1 EIF4G3 nsv5415835 1 21437247 21443648 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901044 M 3202 0 1 EIF4G3 nsv6317067 1 21437247 21443648 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057401 M 19652 0 1 EIF4G3 nsv6261140 1 21439477 21439477 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17858110 M 1021 1 0 EIF4G3 nsv6245310 1 21441088 21441088 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17838497 M 1021 1 0 EIF4G3 nsv6334220 1 21450082 21450527 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057410 M 19652 0 1 EIF4G3 nsv4048581 1 21452000 21457000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848906 M 10847 0 1 EIF4G3 nsv5419753 1 21454954 21455125 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901047 M 3202 1 0 EIF4G3 nsv5875654 1 21455554 21455630 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353362 M 914 0 1 EIF4G3 nsv4041480 1 21455558 21455631 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848908 M 10847 0 1 EIF4G3 nsv5432200 1 21455558 21455631 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901048 M 3202 0 1 EIF4G3 nsv5609413 1 21455990 21455990 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062271 M 35 1 0 EIF4G3 HG03371 nsv4460480 1 21455990 21455991 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029264 M 10847 1 0 EIF4G3 nsv5680390 1 21456006 21456006 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17182173,nssv17205689 M 3202 2 0 EIF4G3 nsv5395315 1 21456006 21456057 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901050 M 3202 1 0 EIF4G3 nsv6536868 1 21458352 21459021 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247882 M 19652 0 0 EIF4G3 nsv4044035 1 21466372 21486847 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966072 M 10847 1 0 EIF4G3 dgv34n166 1 21469692 21494801 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4037412,nsv4038187 M 10847 0 2 EIF4G3 nsv6325344 1 21469693 21487877 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057420 M 19652 0 1 EIF4G3 nsv4460482 1 21471910 21471911 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029274 M 10847 1 0 EIF4G3 nsv5682257 1 21471940 21471940 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17182628 M 3202 1 0 EIF4G3 nsv5405713 1 21471940 21471991 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901051 M 3202 1 0 EIF4G3 nsv6547104 1 21473158 21473878 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247886 M 19652 0 0 EIF4G3 nsv4033186 1 21474111 21484921 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848731 M 10847 0 1 EIF4G3 nsv5982367 1 21477953 21478025 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526665 M 405 0 1 EIF4G3 nsv6334902 1 21480067 21484789 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057428 M 19652 0 1 EIF4G3 nsv5419536 1 21480068 21484789 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901052 M 3202 0 1 EIF4G3 esv3585439 1 21480071 21484787 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9883282 M 2504 0 1 EIF4G3 HG03046 esv3663701 1 21481755 21481755 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486534 M 20 1 0 EIF4G3 esv1007787 1 21484792 21486447 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565532 M 3 1 0 EIF4G3 HuRef esv3663706 1 21488978 21488978 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486539 M 20 1 0 EIF4G3 esv3663713 1 21492588 21492588 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486545 M 20 1 0 EIF4G3 nsv3520269 1 21492588 21492588 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381635 M 9 1 0 EIF4G3 NA19240 nsv3940047 1 21492588 21492588 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192661 M 1 1 0 EIF4G3 HG002 nsv5617796 1 21492588 21492588 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062282 M 35 1 0 EIF4G3 NA19238 nsv5961218 1 21492588 21492588 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353882 M 914 1 0 EIF4G3 nsv6053839 1 21492588 21492588 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531436 M 405 1 0 EIF4G3 nsv4460484 1 21492588 21492589 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029284 M 10847 1 0 EIF4G3 nsv2801274 1 21492589 21492589 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681622 M 2 1 0 EIF4G3 nsv3322028 1 21492589 21492589 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14482367,nssv14488887,nssv14486858,nssv14478030,nssv14478884 M 14 5 0 EIF4G3 CHM1,HG00268,HG04217,HX1,NA19240 nsv4444864 1 21492589 21492589 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765363 M 1 1 0 EIF4G3 nsv4755410 1 21492591 21492591 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16291855 M 25 1 0 EIF4G3 nsv3561324 1 21492600 21492600 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355133,nssv14355132 M 9 2 0 EIF4G3 NA19238,NA19240 nsv5680271 1 21492600 21492600 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17182245,nssv17205690 M 3202 2 0 EIF4G3 nsv6245321 1 21492600 21492600 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17838510 M 1021 1 0 EIF4G3 nsv5412835 1 21492600 21492651 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683861 M 3202 1 0 EIF4G3 nsv6048072 1 21498115 21498115 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533128 M 405 1 0 EIF4G3 nsv4039409 1 21499227 21499309 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848732 M 10847 0 1 EIF4G3 nsv5430385 1 21499227 21499309 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901054 M 3202 0 1 EIF4G3 nsv6554245 1 21499227 21499494 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247894 M 19652 0 0 EIF4G3 nsv6317329 1 21501994 21505293 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199934 M 19652 1 0 EIF4G3 nsv1075300 1 21502199 21503100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772743 M 1 0 1 EIF4G3 KWP1 nsv1136066 1 21502500 21503100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989673 M 2 0 1 EIF4G3 KWS2 nsv5869758 1 21504095 21505702 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358360 M 914 0 1 "" nsv5829336 1 21504187 21505736 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459990 M 914 0 0 "" nsv6323320 1 21504892 21512198 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057438 M 19652 0 1 "" nsv5422461 1 21504934 21513602 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901055 M 3202 1 0 "" nsv6331531 1 21504966 21513599 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199935 M 19652 1 0 "" nsv4033797 1 21505002 21512229 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966073 M 10847 1 0 "" nsv954990 1 21506213 21506378 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000458 M 1 0 1 "" BILGI_BIOE nsv4444865 1 21506253 21506253 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765021 M 1 1 0 "" nsv6053945 1 21506267 21506267 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524900 M 405 1 0 "" nsv3322185 1 21506270 21506270 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474152,nssv14475018,nssv14473245,nssv14485335 M 14 4 0 "" HG00268,HG02818,HX1,NA19434 nsv3537901 1 21506275 21506275 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386488 M 9 1 0 "" NA19240 nsv2801524 1 21506276 21506276 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682719 M 2 1 0 "" nsv3321754 1 21506276 21506276 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473513,nssv14480380,nssv14481730,nssv14482654,nssv14484306 M 14 5 0 "" CHM13,HG00268,HX1,NA19240,NA19434 nsv6050734 1 21506279 21506279 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523223 M 405 1 0 "" nsv5954484 1 21506282 21506282 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17368874 M 914 1 0 "" nsv5609690 1 21506293 21506293 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062286 M 35 1 0 "" HG00513 nsv3539366 1 21506302 21506302 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387421 M 9 1 0 "" NA19240 nsv3321566 1 21506357 21506408 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486982 M 14 0 1 "" HG02106 nsv6059765 1 21506372 21506372 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528269 M 405 1 0 "" nsv5874878 1 21506376 21506440 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367281 M 914 0 1 "" nsv6057683 1 21506427 21506427 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527020 M 405 1 0 "" nsv2800638 1 21506432 21506432 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682042 M 2 1 0 "" nsv3322030 1 21506440 21506440 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479020,nssv14477457 M 14 2 0 "" HG02818,NA19240 nsv5621078 1 21506465 21506465 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062287 M 35 1 0 "" NA19238 nsv5605735 1 21506495 21506495 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062288 M 35 1 0 "" HG03009 nsv3530997 1 21506499 21506499 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380027 M 9 1 0 "" NA19240 nsv5624057 1 21506543 21506543 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062289 M 35 1 0 "" HG00731 nsv3536431 1 21506551 21506551 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383245 M 9 1 0 "" NA19240 nsv4533992 1 21506553 21506554 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029303 M 10847 1 0 "" nsv3542308 1 21506557 21506557 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413798 M 9 1 0 "" HG00514 nsv3928982 1 21506557 21506557 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192662 M 1 1 0 "" HG002 nsv3539189 1 21506564 21506564 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377274 M 9 1 0 "" NA19240 nsv5955760 1 21506564 21506564 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351036 M 914 1 0 "" nsv6048909 1 21506564 21506564 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536543 M 405 1 0 "" nsv2800984 1 21506565 21506565 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682207,nssv13691293 M 2 2 0 "" nsv3322031 1 21506565 21506565 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476815,nssv14486557,nssv14486111,nssv14478946,nssv14476969,nssv14487889,nssv14489765,nssv14477033,nssv14474500,nssv14473679,nssv14489774,nssv14475656 M 14 12 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19434 nsv3540344 1 21506565 21506565 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438812 M 9 1 0 "" HG00733 nsv3056100 1 21506566 21506566 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021764 M 2 1 0 "" NA12878 nsv5612553 1 21506746 21506746 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062290 M 35 1 0 "" HG01596 nsv4047570 1 21506870 21510017 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848733 M 10847 0 1 "" esv3663720 1 21506939 21506939 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486551 M 20 1 0 "" nsv4047304 1 21507000 21519000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848734 M 10847 0 1 "" nsv6331747 1 21513019 21518202 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057444 M 19652 0 1 "" nsv5885964 1 21517443 21517510 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366693 M 914 0 1 "" nsv6050770 1 21517463 21517463 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524578 M 405 1 0 "" nsv5428796 1 21518244 21518617 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901058 M 3202 0 1 "" nsv6320283 1 21518244 21518617 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057447 M 19652 0 1 "" esv1000397 1 21521167 21539904 OTHER inversion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565165 M 3 0 0 "" HuRef nsv6542613 1 21522494 21523465 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247902 M 19652 0 0 "" nsv5883152 1 21528708 21528885 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359868 M 914 0 1 "" nsv6548134 1 21529968 21531085 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247907 M 19652 0 0 "" nsv5978557 1 21530381 21531226 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17365652 M 914 0 0 "" nsv4326053 1 21530389 21531247 OTHER inversion gnomAD_Structural_Variants 32461652 Sequencing nssv16090152 M 10847 0 0 "" nsv5565582 1 21530391 21530890 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062295 M 35 0 1 "" HG00171 nsv5672285 1 21530391 21531252 OTHER inversion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062294 M 35 0 0 "" nsv5554699 1 21530398 21531227 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901060 M 3202 0 0 "" dgv55n106 1 21530398 21531384 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nsv1140230,nsv1125277 M 2 0 0 "" KWS2 nsv1078293 1 21530440 21531221 OTHER inversion Thareja_et_al_2015 25765185 Sequencing nssv3764746 M 1 0 0 "" KWP1 esv3585441 1 21530509 21531320 OTHER inversion 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9884022,essv9884020,essv9884021,essv9884016,essv9884023,essv9884017,essv9884025,essv9884052,essv9884007,essv9884024,essv9884050,essv9884006,essv9884048,essv9884009,essv9884051,essv9884012,essv9884049,essv9884015,essv9884000,essv9884018,essv9883984,essv9884014,essv9884003,essv9884010,essv9883985,essv9884005,essv9883986,essv9884013,essv9883987,essv9884011,essv9883988,essv9884019,essv9883989,essv9884008,essv9883990,essv9884045,essv9883991,essv9884046,essv9884004,essv9884047,essv9883992,essv9884043,essv9883981,essv9884041,essv9883993,essv9884039,essv9883982,essv9884035,essv9883994,essv9884040,essv9883983,essv9884042,essv9883995,essv9884030,essv9884001,essv9884027,essv9883999,essv9884036,essv9883996,essv9884044,essv9883997,essv9884033,essv9884002,essv9884038,essv9883998,essv9884034,essv9884029,essv9884032,essv9884026,essv9884037,essv9884028,essv9884031 M 2504 0 0 "" HG00107,HG00108,HG00112,HG00142,HG00157,HG00171,HG00178,HG00187,HG00234,HG00237,HG00239,HG00250,HG00251,HG00256,HG00273,HG00285,HG00304,HG00326,HG00336,HG00337,HG00343,HG00360,HG00361,HG00378,HG01073,HG01082,HG01083,HG01122,HG01137,HG01139,HG01148,HG01177,HG01251,HG01312,HG01354,HG01491,HG01498,HG01516,HG01521,HG01628,HG01695,HG01790,HG02471,HG02678,HG03235,HG03644,HG03808,HG03863,HG03885,HG03989,HG04075,HG04182,HG04188,HG04195,NA06985,NA10847,NA10851,NA11829,NA11933,NA12287,NA12383,NA12414,NA12489,NA12546,NA12761,NA12778,NA18941,NA20126,NA20348,NA20506,NA20531,NA20772 nsv5876676 1 21530611 21535468 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357912 M 914 0 1 "" nsv4037573 1 21530620 21535469 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848735 M 10847 0 1 "" nsv5829337 1 21531179 21535274 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468654 M 914 0 0 "" nsv5829108 1 21531679 21533206 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462733 M 914 0 0 "" nsv6538905 1 21531956 21533786 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247909 M 19652 0 0 "" esv3577774 1 21532688 21535008 CNV loss Uddin_et_al_2014 25503493 SNP array essv9808310 M 873 0 1 "" 401706BJ nsv6330693 1 21532994 21534993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057452 M 19652 0 1 "" nsv5415501 1 21533057 21534919 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901061 M 3202 0 1 "" nsv4460295 1 21534374 21534375 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029313 M 10847 1 0 "" nsv5424845 1 21536907 21537332 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901062 M 3202 0 1 "" nsv6330915 1 21536907 21537332 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057455 M 19652 0 1 "" esv1387368 1 21537097 21537519 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3804670 M 2 0 1 "" HuRef nsv6543618 1 21540162 21541079 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247912 M 19652 0 0 "" nsv4320993 1 21540162 21541091 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789091 M 10847 0 0 "" nsv6326052 1 21540700 21541166 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18199947 M 19652 1 0 "" nsv5880678 1 21540788 21540852 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358864 M 914 0 1 "" nsv4041209 1 21540790 21540853 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848736 M 10847 0 1 "" nsv545735 1 21541735 21548068 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711288 M 17421 0 1 ECE1 nsv4038217 1 21551057 21551125 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848737 M 10847 0 1 ECE1 nsv5425375 1 21551057 21551125 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901063 M 3202 0 1 ECE1 nsv6047155 1 21554774 21554774 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520325 M 405 1 0 ECE1 esv3585442 1 21564279 21564646 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9884054,essv9884053,essv9884056,essv9884055 M 2504 0 4 ECE1 HG02325,NA19717,NA20296,NA20340 nsv6540447 1 21566670 21567925 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18247930 M 19652 0 0 ECE1 esv1006358 1 21573816 21586344 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564803 M 3 0 1 ECE1 HuRef nsv4042719 1 21575238 21615382 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966074 M 10847 1 0 ECE1 nsv6540692 1 21575397 21575998 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248513 M 19652 0 0 ECE1 nsv4560838 1 21575874 21575875 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029321 M 10847 1 0 ECE1 nsv6043176 1 21577346 21577346 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536761 M 405 1 0 ECE1 nsv6538733 1 21590950 21591468 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248518 M 19652 0 0 ECE1 nsv4460257 1 21597960 21597961 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029330 M 10847 1 0 ECE1 nsv5982380 1 21608260 21608347 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519169 M 405 0 1 ECE1 nsv4045597 1 21610588 21613762 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848739 M 10847 0 1 ECE1 nsv4330120 1 21615629 21616200 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789102 M 10847 0 0 ECE1 nsv6245332 1 21618833 21618833 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17838544 M 1021 1 0 ECE1 nsv4533832 1 21624331 21624332 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029339 M 10847 1 0 ECE1,LOC100506801 nsv5535321 1 21624346 21624382 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901065 M 3202 1 0 ECE1,LOC100506801 nsv4035811 1 21624881 21759163 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966075 M 10847 1 0 ECE1,LOC100506801 esv2109865 1 21627318 21627736 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4765838 M 1 0 1 ECE1 NA18507 nsv6332181 1 21628345 21630808 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057728 M 19652 0 1 ECE1 nsv6321916 1 21630538 21634624 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057729 M 19652 0 1 ECE1 nsv5887214 1 21631604 21631679 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361266 M 914 0 1 ECE1 nsv4313474 1 21638128 21645413 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789112 M 10847 0 0 ECE1 nsv3116439 1 21645878 21660419 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14106598 M 467 0 1 ECE1 sample83 esv3663726 1 21650312 21650312 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486557 M 20 1 0 ECE1 esv3674603 1 21656664 21656733 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496346 M 20 0 0 ECE1 nsv515620 1 21657162 21657239 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv656270,nssv664134 M 2026 0 2 ECE1 esv23912 1 21658828 21659448 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14361 M 40 0 1 ECE1 NA19225 nsv4536205 1 21673964 21673965 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027471 M 10847 1 0 "" nsv6326635 1 21675181 21685185 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200550 M 19652 1 0 "" nsv3201370 1 21677140 21692088 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255569,nssv14255568 M 9 0 2 "" HG00512,HG00514 nsv6541981 1 21683973 21684657 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248546 M 19652 0 0 "" nsv4033707 1 21684954 21700503 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848740 M 10847 0 1 "" nsv6316228 1 21684961 21704057 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200551 M 19652 1 0 "" esv2671442 1 21684972 21687314 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6591962,essv6068623,essv5520850 M 1151 0 3 "" HG00501,HG00512,HG00524 esv3666519 1 21685177 21685231 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489071 M 20 0 0 "" nsv6323885 1 21685194 21687093 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057767 M 19652 0 1 "" nsv5577496 1 21685229 21687084 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062480 M 35 0 1 "" HG00512 nsv3178433 1 21685236 21687093 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14416253 M 9 0 1 "" HG00514 nsv5982550 1 21685237 21686940 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537163 M 405 0 1 "" nsv3195418 1 21685251 21687081 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355166,nssv14355165 M 9 0 2 "" HG00512,HG00514 nsv5416184 1 21686008 21686955 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901066 M 3202 0 1 "" nsv6321098 1 21690184 21718575 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057771 M 19652 0 1 "" nsv4034078 1 21690197 21718542 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848741 M 10847 0 1 "" esv3555233 1 21690391 21691117 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9753980 M 767 0 1 "" nsv4043082 1 21690714 21690768 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848742 M 10847 0 1 "" nsv5688992 1 21690724 21690724 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205691 M 3202 1 0 "" nsv6245376 1 21690726 21690726 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17838545 M 1021 1 0 "" nsv5982388 1 21690727 21690784 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537026 M 405 0 1 "" nsv5952547 1 21690734 21690734 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17368856 M 914 1 0 "" nsv1007102 1 21691885 21736327 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3474977 M 11257 0 1 "" esv34155 1 21693577 22166616 CNV loss Gusev_et_al_2009 18971310 SNP array essv6990706 M 270 0 0 ALPL,HSPG2,LDLRAD2,NBPF3,RAP1GAP,USP48 nsv6325778 1 21695894 21696893 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057773 M 19652 0 1 "" nsv4034216 1 21696039 21699518 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848743 M 10847 0 1 "" nsv6317132 1 21696044 21699518 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057774 M 19652 0 1 "" nsv4460965 1 21696833 21696834 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027479 M 10847 1 0 "" nsv4043088 1 21696942 21826900 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848744 M 10847 0 1 NBPF3 nsv6138335 1 21696973 21826863 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901068 M 3202 0 1 NBPF3 esv3577775 1 21697469 21721233 CNV loss Uddin_et_al_2014 25503493 SNP array essv9808421 M 873 0 1 "" 401500OM esv26055 1 21697490 21815162 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv14172,esv11019,esv14152 M 40 8 0 NBPF3 NA15510,NA18502,NA18511,NA18523,NA18907,NA18909,NA18916,NA19225 nsv5872601 1 21698646 21698807 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367610 M 914 0 1 "" nsv5982390 1 21698646 21698808 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518589 M 405 0 1 "" nsv4040412 1 21698647 21698808 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848745 M 10847 0 1 "" nsv5419768 1 21698647 21698808 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901069 M 3202 0 1 "" nsv6554273 1 21699607 21699934 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248547 M 19652 0 0 "" nsv4535654 1 21700992 21700993 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027488 M 10847 1 0 "" nsv4534848 1 21701032 21701033 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027503 M 10847 1 0 "" dgv35n166 1 21701032 21701183 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4040832,nsv4034812,nsv4517699 M 10847 0 3 "" nsv5425613 1 21701039 21701178 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901070 M 3202 0 1 "" nsv5618392 1 21701042 21701042 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062488 M 35 1 0 "" NA19983 nsv6147090 1 21701044 21701215 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901071 M 3202 0 0 "" nsv5425594 1 21701047 21701100 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901072 M 3202 0 1 "" nsv4037413 1 21701065 21701126 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848750 M 10847 0 1 "" nsv6137980 1 21701065 21701126 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901073 M 3202 0 1 "" nsv5956702 1 21701087 21701087 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17356751 M 914 1 0 "" nsv6326636 1 21702190 21704224 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200553 M 19652 1 0 "" esv3585443 1 21702344 21814087 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9884057 M 2504 0 1 NBPF3 HG02798 nsv6328530 1 21702943 21705578 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057777 M 19652 0 1 "" nsv6538772 1 21709299 21709603 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248549 M 19652 0 0 "" nsv1012251 1 21711731 21778496 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700856 M 11257 1 0 NBPF3 nsv1141742 1 21713378 21713431 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3993248 M 2 1 0 "" KWS2 nsv4762190 1 21713472 21713472 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16279024 M 25 1 0 "" nsv5982457 1 21713473 21713536 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518154 M 405 0 1 "" nsv6043921 1 21713475 21713475 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524234 M 405 1 0 "" nsv2801529 1 21713480 21713480 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687159 M 2 1 0 "" nsv3542286 1 21713494 21713494 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438814 M 9 1 0 "" HG00733 nsv5581374 1 21713502 21713556 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062490 M 35 0 1 "" HG02011 nsv4036468 1 21713508 21713563 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848751 M 10847 0 1 "" nsv2800646 1 21713517 21713517 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690868,nssv13691890 M 2 2 0 "" nsv3321783 1 21713517 21713517 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478621,nssv14477493,nssv14484890 M 14 3 0 "" CHM1,CHM13,HG02818 nsv6051758 1 21713537 21713537 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519998 M 405 1 0 "" nsv3535264 1 21713554 21713554 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438815 M 9 1 0 "" HG00733 nsv5608716 1 21713554 21713554 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062491 M 35 1 0 "" HG00732 nsv5608521 1 21713559 21713559 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062493,nssv17062492 M 35 2 0 "" HG03125,HG03371 nsv5982551 1 21714478 21714542 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531431 M 405 0 1 "" nsv5572300 1 21714637 21714735 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062494 M 35 0 1 "" NA19239 nsv5982552 1 21714705 21714760 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530505 M 405 0 1 "" nsv5982458 1 21714750 21714802 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537263 M 405 0 1 "" nsv3321784 1 21714769 21714818 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484548 M 14 0 1 "" HG02818 nsv5623907 1 21714770 21714770 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062495 M 35 1 0 "" HG03486 nsv4449386 1 21714799 21715233 OTHER complex Genome_in_a_Bottle 32541955 Sequencing nssv15761632 M 1 0 0 "" nsv2801530 1 21714889 21715236 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13678153 M 2 0 1 "" nsv3321590 1 21714889 21715236 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485325,nssv14481470,nssv14472378,nssv14479046,nssv14485536,nssv14476614,nssv14477042,nssv14490995,nssv14477221,nssv14489834,nssv14474392,nssv14480918 M 14 0 12 "" CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240 nsv4730928 1 21714918 21715185 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278276 M 25 0 1 "" dgv137n152 1 21714937 21715021 CNV sva deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3273659,nsv3272332,nsv3276249 M 9 0 3 "" HG00514,HG00733,NA19240 nsv2800647 1 21714943 21715020 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13676566 M 2 0 1 "" nsv3321785 1 21714943 21715020 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14812751,nssv14814171,nssv14812955,nssv14814005,nssv14812193,nssv14814381,nssv14813165,nssv14813380,nssv14812365 M 14 0 9 "" CHM1,HG00268,HG00733,HG01352,HG02059,HG02106,HX1,NA12878,NA19240 nsv5982777 1 21714945 21715021 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531626 M 405 0 1 "" nsv6048426 1 21714946 21714946 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533288 M 405 1 0 "" nsv5581198 1 21714975 21715220 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062496 M 35 0 1 "" HG00731 nsv3944129 1 21714975 21715225 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181127 M 1 0 1 "" HG002 dgv138n152 1 21715064 21715242 CNV sva deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3271680,nsv3278314 M 9 0 3 "" HG00514,HG00733,NA19240 nsv5982391 1 21715069 21715243 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536517 M 405 0 1 "" nsv2801284 1 21715070 21715241 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13683004 M 2 0 1 "" nsv3322209 1 21715070 21715241 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14814172,nssv14812956,nssv14813381,nssv14812752,nssv14813827,nssv14812366,nssv14814382,nssv14812550,nssv14814006,nssv14812194,nssv14813565,nssv14813166 M 14 0 12 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240 nsv5575284 1 21715102 21715220 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062497 M 35 0 1 "" HG03371 nsv2801531 1 21715341 21715521 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13692358 M 2 0 1 "" nsv3322048 1 21715341 21715521 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472148 M 14 0 1 "" CHM13 nsv5982459 1 21715428 21715517 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523279 M 405 0 1 "" nsv5569984 1 21715515 21715641 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062498 M 35 0 1 "" HG00732 nsv3274310 1 21715522 21715649 CNV sva deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14443686 M 9 0 1 "" HG00733 nsv2800991 1 21715529 21715655 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13692066 M 2 0 1 "" nsv3321786 1 21715529 21715655 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14813566,nssv14812753,nssv14812195 M 14 0 3 "" CHM1,HG00733,HG02818 nsv5982553 1 21715535 21715655 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523759 M 405 0 1 "" nsv6319320 1 21716597 21805757 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200555 M 19652 1 0 NBPF3 nsv6050593 1 21716619 21716619 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521191 M 405 1 0 "" nsv5883347 1 21718757 21718807 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358778 M 914 0 1 "" nsv5982779 1 21718771 21718823 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519197 M 405 0 1 "" nsv4045231 1 21721222 21721317 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848752 M 10847 0 1 "" nsv5689986 1 21721968 21721968 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17183009 M 3202 1 0 "" nsv5406191 1 21721968 21722019 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901074 M 3202 1 0 "" nsv945812 1 21725694 21758082 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763320,nssv1763375,nssv1763312,nssv1763360,nssv1763314,nssv1763383,nssv1763313,nssv1763362,nssv1763396,nssv1763405,nssv1763321,nssv1763382,nssv1763336,nssv1763385,nssv1763338,nssv1763359,nssv1763328,nssv1763361,nssv1763388,nssv1763351,nssv1763397,nssv1763353,nssv1763393,nssv1763400,nssv1763391,nssv1763399,nssv1763346,nssv1763355,nssv1763392,nssv1763364,nssv1763334,nssv1763403,nssv1763325,nssv1763380,nssv1763348,nssv1763370,nssv1763389,nssv1763350,nssv1763395,nssv1763365,nssv1763340,nssv1763374,nssv1763331,nssv1763356,nssv1763347,nssv1763372,nssv1763317,nssv1763367,nssv1763339,nssv1763373,nssv1763324,nssv1763401,nssv1763335,nssv1763357,nssv1763394,nssv1763358,nssv1763344,nssv1763402,nssv1763316,nssv1763378,nssv1763333,nssv1763368,nssv1763322,nssv1763406,nssv1763327,nssv1763363,nssv1763332,nssv1763371,nssv1763342,nssv1763366,nssv1763345,nssv1763369,nssv1763330,nssv1763354,nssv1763390,nssv1763381,nssv1763311,nssv1763386,nssv1763315,nssv1763387,nssv1763318,nssv1763398,nssv1763337,nssv1763376,nssv1763343,nssv1763379,nssv1763341,nssv1763352,nssv1763319,nssv1763349,nssv1763323,nssv1763377,nssv1763326,nssv1763384,nssv1763329,nssv1763407,nssv1763404 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4460265 1 21727725 21727726 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16027510 M 10847 1 0 "" nsv6333196 1 21728420 21729378 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057794 M 19652 0 1 "" esv2673455 1 21728786 21729157 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6326047,essv6384977,essv5453123,essv6394063,essv5422558,essv6074796 M 1151 0 6 "" NA18501,NA18504,NA18853,NA19704,NA19901,NA20287 nsv5879354 1 21728811 21729127 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356475 M 914 0 1 "" nsv5428693 1 21728811 21729128 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901075 M 3202 0 1 "" nsv4045904 1 21728811 21729196 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848753 M 10847 0 1 "" nsv4460312 1 21731254 21731255 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028079 M 10847 1 0 "" nsv6543937 1 21734205 21734749 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248553 M 19652 0 0 "" nsv820559 1 21735472 21815162 CNV duplication Ju_et_al_2010 20802225 Sequencing nssv1420269 M 1 1 0 NBPF3 NA10851 nsv6551056 1 21735514 21736026 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248554 M 19652 0 0 "" esv2758926 1 21736184 21942414 CNV gain+loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757726 M 270 1 1 ALPL,NBPF3,RAP1GAP NA19154,NA19173 nsv428432 1 21736184 21942414 CNV gain Perry_et_al_2008b 18775914 BAC aCGH,FISH,PCR nssv454598,nssv454587,nssv454565,nssv454609,nssv454554,nssv454620,nssv454576 M 62 7 0 ALPL,NBPF3,RAP1GAP HGDP00460,HGDP00463,HGDP00472,HGDP01093,HGDP01094,NA18916,NA19096 nsv9435 1 21737743 21800195 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv15120,nssv14412,nssv16109 M 31 2 1 NBPF3 NA18502,NA19173,NA19221 esv3663745 1 21738996 21738996 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486574 M 20 1 0 "" nsv4558701 1 21743186 21743187 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028087 M 10847 1 0 "" nsv1077284 1 21744499 21754400 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3766111 M 1 1 0 "" KWP1 nsv4756913 1 21745012 21745012 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16290174 M 25 1 0 "" nsv3535944 1 21745022 21745022 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413799 M 9 1 0 "" HG00514 nsv3925753 1 21745022 21745022 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192663 M 1 1 0 "" HG002 nsv5606327 1 21745022 21745022 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062499 M 35 1 0 "" HG02011 nsv5949253 1 21745022 21745022 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350977 M 914 1 0 "" nsv6041447 1 21745022 21745022 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537304 M 405 1 0 "" nsv3321787 1 21745023 21745023 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475085,nssv14474022,nssv14489826 M 14 3 0 "" HG00514,HG02106,HG04217 nsv1150148 1 21745799 21753800 CNV duplication John_et_al_2014 26484159 Sequencing nssv4003446 M 1 1 0 "" KWB1 esv3663750 1 21748310 21748310 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486579 M 20 1 0 "" nsv6329220 1 21749094 21755693 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200557 M 19652 1 0 "" esv3402744 1 21749165 21753863 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692122 M 185 1 0 "" NA19238 nsv3521660 1 21751228 21751228 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413800 M 9 1 0 "" HG00514 nsv5610267 1 21751228 21751228 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062503 M 35 1 0 "" HG00512 nsv5953356 1 21751228 21751228 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17365364 M 914 1 0 "" nsv2801285 1 21751229 21751229 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682887 M 2 1 0 "" nsv3321592 1 21751229 21751229 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14491899,nssv14489779 M 14 2 0 "" CHM13,HG00268 nsv6043214 1 21751229 21751229 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535523 M 405 1 0 "" nsv4767019 1 21751237 21751237 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265927 M 25 1 0 "" nsv3561930 1 21751241 21751241 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355205,nssv14355204 M 9 2 0 "" HG00512,HG00731 nsv5681976 1 21751241 21751241 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205692,nssv17183105 M 3202 2 0 "" nsv6245487 1 21751241 21751241 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17838589 M 1021 1 0 "" nsv5411056 1 21751241 21751292 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901079 M 3202 1 0 "" nsv945574 1 21751379 21758082 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570572,nssv2570585,nssv2570573,nssv2571163,nssv2570571,nssv2570595,nssv2570648,nssv2570596,nssv2570580,nssv2570643,nssv2570579,nssv2571159,nssv2570607,nssv2570644,nssv2570627,nssv2571165,nssv2570620,nssv2570570,nssv2570608,nssv2570589,nssv2570633,nssv2570642,nssv2570622,nssv2570568,nssv2570631,nssv2570569,nssv2570619,nssv2570574,nssv2570616,nssv2571164,nssv2570624,nssv2570584,nssv2570628,nssv2570581,nssv2570610,nssv2570641,nssv2570609,nssv2570599,nssv2570614,nssv2570582,nssv2570621,nssv2571166,nssv2570618,nssv2570590,nssv2570626,nssv2570576,nssv2570611,nssv2570588,nssv2570630,nssv2570601,nssv2570625,nssv2570575,nssv2570636,nssv2570645,nssv2570612,nssv2570587,nssv2570639,nssv2571158,nssv2570635,nssv2570640,nssv2570613,nssv2570647,nssv2570629,nssv2570649,nssv2570634,nssv2570594,nssv2570632,nssv2570603,nssv2570638,nssv2571167,nssv2570623,nssv2570604,nssv2570617,nssv2570592,nssv2570637,nssv2570578,nssv2570615,nssv2570577,nssv2570600,nssv2570650,nssv2570597,nssv2570583,nssv2570586,nssv2570598,nssv2571161,nssv2570593,nssv2571162,nssv2570606,nssv2570602,nssv2570646,nssv2570591,nssv2570605 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5614979 1 21751997 21751997 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062504 M 35 1 0 "" NA18939 nsv5555662 1 21753997 21806925 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900046 M 3202 0 0 NBPF3 nsv954901 1 21754301 21758600 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003150 M 1 0 1 "" BILGI_BIOE esv7069 1 21754303 21806564 OTHER inversion Ahn_et_al_2009 19470904 Sequencing essv29510 M 1 0 0 NBPF3 nsv1075708 1 21754399 21755100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765526 M 1 0 1 "" KWP1 nsv5430528 1 21757153 21760167 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900047 M 3202 0 1 "" esv2675012 1 21757180 21760264 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6452771,essv5474967,essv6505857,essv6526188,essv5648710,essv6364153 M 1151 0 6 "" HG00186,HG00278,HG00373,NA19676,NA19720,NA20806 esv3585445 1 21757277 21760173 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9884372,essv9884380,essv9884376,essv9884370,essv9884375,essv9884373,essv9884379,essv9884374,essv9884377,essv9884371,essv9884378,essv9884387,essv9884384,essv9884388,essv9884385,essv9884390,essv9884382,essv9884391,essv9884383,essv9884389,essv9884381,essv9884392,essv9884386 M 2504 0 23 "" HG00186,HG00278,HG00373,HG00381,HG00383,HG01392,HG01393,HG01686,HG01747,HG02239,HG02798,HG03709,HG03752,HG03836,HG03875,HG03908,NA19676,NA19720,NA20530,NA20764,NA20778,NA20806,NA20826 nsv5884008 1 21757278 21760166 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356493 M 914 0 1 "" nsv6322278 1 21757278 21760167 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057804 M 19652 0 1 "" esv3555344 1 21757278 21760193 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9754091 M 767 0 1 "" nsv2801532 1 21757280 21760168 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13692538 M 2 0 1 "" nsv3322049 1 21757280 21760168 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490747 M 14 0 1 "" CHM13 nsv5828888 1 21757321 21760190 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466800 M 914 0 0 "" nsv6245561 1 21758729 21758729 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17838635 M 1021 1 0 "" esv3663760 1 21759197 21759197 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486588 M 20 1 0 "" nsv5982460 1 21759648 21759795 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530749 M 405 0 1 "" nsv5982557 1 21759702 21759775 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531192 M 405 0 1 "" nsv4460267 1 21761869 21761870 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028112 M 10847 1 0 "" nsv4042370 1 21763718 21763778 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848754 M 10847 0 1 "" nsv4043499 1 21764139 21768637 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848755 M 10847 0 1 NBPF3 nsv4533314 1 21765180 21765181 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028122 M 10847 1 0 "" nsv3322210 1 21766394 21784093 CNV duplication Audano_et_al_2019 30661756 Sequencing nssv14478445,nssv14482332,nssv14484722,nssv14477813,nssv14473514,nssv14490593,nssv14483178,nssv14479642 M 14 8 0 NBPF3 CHM1,HG00514,HG01352,HG02059,HG02818,NA12878,NA19240,NA19434 nsv945813 1 21767367 21812579 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763411,nssv1763446,nssv1764109,nssv1763475,nssv1763417,nssv1764112,nssv1763409,nssv1763451,nssv1763410,nssv1763480,nssv1763418,nssv1763457,nssv1763485,nssv1764116,nssv1763443,nssv1763472,nssv1763424,nssv1763450,nssv1763491,nssv1764117,nssv1764110,nssv1764111,nssv1763437,nssv1763460,nssv1763427,nssv1763482,nssv1763435,nssv1763477,nssv1763487,nssv1763479,nssv1763436,nssv1763481,nssv1763486,nssv1763448,nssv1763429,nssv1763470,nssv1763488,nssv1764115,nssv1763489,nssv1763449,nssv1763412,nssv1763484,nssv1763415,nssv1763455,nssv1763433,nssv1763463,nssv1763444,nssv1763459,nssv1763430,nssv1764120,nssv1763423,nssv1763471,nssv1763434,nssv1763461,nssv1763426,nssv1763464,nssv1763445,nssv1763469,nssv1763442,nssv1763456,nssv1763414,nssv1764119,nssv1763441,nssv1763447,nssv1763428,nssv1763454,nssv1763432,nssv1763452,nssv1763413,nssv1763467,nssv1763422,nssv1763468,nssv1763421,nssv1763466,nssv1763431,nssv1764113,nssv1763425,nssv1763478,nssv1763439,nssv1763473,nssv1763440,nssv1764114,nssv1763490,nssv1763483,nssv1763419,nssv1763453,nssv1764108,nssv1764118,nssv1763420,nssv1763462,nssv1763438,nssv1763458,nssv1763408,nssv1763465,nssv1763416,nssv1763474,nssv1763476 M 97 10 0 NBPF3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5420067 1 21769025 21769573 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900048 M 3202 0 1 NBPF3 esv3663770 1 21769602 21769602 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486597 M 20 1 0 NBPF3 nsv4040601 1 21769651 21795454 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966076 M 10847 1 0 NBPF3 esv3663782 1 21772551 21772551 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486607 M 20 1 0 NBPF3 nsv4040788 1 21772851 21772906 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848756 M 10847 0 1 NBPF3 nsv3047941 1 21774344 21777321 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14030604 M 2 0 1 NBPF3 NA12878 nsv3322211 1 21774345 21777322 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472127,nssv14482599 M 14 0 2 NBPF3 HG00514,HG02818 nsv5583961 1 21776868 21777266 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062507 M 35 0 1 NBPF3 NA18939 nsv6322623 1 21778901 21779292 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200558 M 19652 1 0 NBPF3 nsv5429685 1 21779359 21779611 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900049 M 3202 1 0 NBPF3 nsv5884014 1 21779454 21779626 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359767 M 914 0 1 NBPF3 nsv5419287 1 21779455 21779627 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900050 M 3202 0 1 NBPF3 esv3663787 1 21783513 21783513 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486611 M 20 1 0 NBPF3 nsv5569495 1 21783863 21783920 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062509 M 35 0 1 NBPF3 HG02587 nsv3321788 1 21784088 21784224 CNV line1 deletion Audano_et_al_2019 30661756 Sequencing nssv14740940,nssv14737535 M 14 0 2 NBPF3 HG00514,HG02818 esv3663796 1 21784123 21784123 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486620 M 20 1 0 NBPF3 nsv3322051 1 21784244 21788072 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491155,nssv14484486 M 14 0 2 NBPF3 HG00514,HG02818 esv2745042 1 21786354 21786781 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6883257,essv6689267,essv6877668,essv6910055,essv6895850,essv6738816,essv6829006,essv6675206,essv6793295,essv6916762,essv6710591,essv6742147,essv6797454,essv6925696,essv6753503,essv6744941,essv6714251,essv6929060,essv6954753,essv6789158,essv6776942,essv6801620,essv6914005,essv6921733,essv6766551,essv6722011,essv6917439,essv6769525,essv6764169,essv6946504,essv6750608,essv6816765,essv6847029,essv6733489,essv6761866,essv6692774,essv6695721,essv6961566,essv6773444,essv6832604,essv6950565,essv6756559,essv6703864,essv6718976,essv6937687,essv6933312,essv6801932,essv6679178,essv6843891,essv6839979 M 96 0 50 NBPF3 SSM002,SSM003,SSM006,SSM007,SSM010,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM024,SSM025,SSM026,SSM027,SSM032,SSM033,SSM036,SSM037,SSM040,SSM042,SSM043,SSM045,SSM049,SSM052,SSM053,SSM055,SSM057,SSM058,SSM059,SSM062,SSM063,SSM064,SSM065,SSM066,SSM067,SSM070,SSM071,SSM072,SSM073,SSM081,SSM082,SSM084,SSM085,SSM086,SSM093,SSM095,SSM099 esv3555455 1 21786378 21786724 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9754202 M 767 0 1 NBPF3 nsv1069038 1 21786399 21786700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772278 M 1 0 1 NBPF3 KWP1 dgv56n106 1 21786400 21786700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1111844,nsv1135306 M 2 0 2 NBPF3 KWS1,KWS2 nsv4744111 1 21786417 21786688 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273648 M 25 0 1 NBPF3 esv989724 1 21786418 21786689 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3569889 M 3 0 1 NBPF3 HuRef nsv5574366 1 21786418 21786689 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062511 M 35 0 1 NBPF3 HG00731 nsv5877202 1 21786418 21786689 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352740 M 914 0 1 NBPF3 nsv3557395 1 21786418 21786690 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355246,nssv14355243,nssv14355241,nssv14355244,nssv14355240,nssv14355245,nssv14355242 M 9 0 0 NBPF3 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19239 nsv3928611 1 21786418 21786690 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181128 M 1 0 1 NBPF3 HG002 nsv5982781 1 21786418 21786690 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519332 M 405 0 1 NBPF3 esv3682654 1 21786418 21786691 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467465 M 20 0 1 NBPF3 esv3585446 1 21786418 21786695 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9885351,essv9886315,essv9885369,essv9886350,essv9885502,essv9886482,essv9885460,essv9886406,essv9885444,essv9886388,essv9885404,essv9886369,essv9885396,essv9886425,essv9885514,essv9886487,essv9885526,essv9886522,essv9885520,essv9886438,essv9885440,essv9886546,essv9885371,essv9886519,essv9885525,essv9886293,essv9885325,essv9886422,essv9885511,essv9886283,essv9885458,essv9886357,essv9885471,essv9886288,essv9885445,essv9886578,essv9885446,essv9886453,essv9885470,essv9886504,essv9885376,essv9886545,essv9885430,essv9886556,essv9885490,essv9886494,essv9885362,essv9886446,essv9885529,essv9886543,essv9885498,essv9886525,essv9885374,essv9886490,essv9885436,essv9886488,essv9885409,essv9886289,essv9885364,essv9886497,essv9885456,essv9886472,essv9885291,essv9886444,essv9885453,essv9886586,essv9885308,essv9886424,essv9885441,essv9886562,essv9885340,essv9886363,essv9885358,essv9886364,essv9885513,essv9886302,essv9885398,essv9886402,essv9885442,essv9886392,essv9885296,essv9886481,essv9885348,essv9886479,essv9885287,essv9886260,essv9885281,essv9886506,essv9885322,essv9886433,essv9885346,essv9886295,essv9885279,essv9886505,essv9885298,essv9886507,essv9885443,essv9886420,essv9885347,essv9886540,essv9885451,essv9886418,essv9885283,essv9886304,essv9885499,essv9886337,essv9885365,essv9886470,essv9885399,essv9886291,essv9885338,essv9886554,essv9885324,essv9886594,essv9885323,essv9886464,essv9885463,essv9886518,essv9885297,essv9886483,essv9885377,essv9886275,essv9885355,essv9886448,essv9885305,essv9886310,essv9885381,essv9886585,essv9885424,essv9886511,essv9885468,essv9886432,essv9885288,essv9886437,essv9885501,essv9886455,essv9885410,essv9886436,essv9885292,essv9886501,essv9885336,essv9886400,essv9885489,essv9886407,essv9885481,essv9886303,essv9885506,essv9886401,essv9885487,essv9886399,essv9885339,essv9886502,essv9885411,essv9886459,essv9885427,essv9886439,essv9885352,essv9886463,essv9885357,essv9886426,essv9885483,essv9886593,essv9885313,essv9886591,essv9885455,essv9886513,essv9885344,essv9886371,essv9885294,essv9886532,essv9885494,essv9886379,essv9885449,essv9886466,essv9885475,essv9886503,essv9885402,essv9886373,essv9885366,essv9886351,essv9885408,essv9886393,essv9885418,essv9886530,essv9885473,essv9886427,essv9885286,essv9886576,essv9885326,essv9886265,essv9885353,essv9886598,essv9885330,essv9886270,essv9885319,essv9886517,essv9885466,essv9886596,essv9885382,essv9886421,essv9885519,essv9886548,essv9885293,essv9886389,essv9885448,essv9886320,essv9885484,essv9886581,essv9885433,essv9886561,essv9885307,essv9886551,essv9885285,essv9886539,essv9885504,essv9886271,essv9885480,essv9886394,essv9885528,essv9886597,essv9885361,essv9886398,essv9885372,essv9886440,essv9885477,essv9886533,essv9885367,essv9886347,essv9885522,essv9886370,essv9885289,essv9886565,essv9885401,essv9886560,essv9885493,essv9886312,essv9885452,essv9886473,essv9885503,essv9886580,essv9885507,essv9886261,essv9885385,essv9886408,essv9885360,essv9886452,essv9885431,essv9886300,essv9885370,essv9886368,essv9885335,essv9886340,essv9885359,essv9886353,essv9885524,essv9886278,essv9885354,essv9886360,essv9885474,essv9886366,essv9885500,essv9886492,essv9885290,essv9886526,essv9885405,essv9886456,essv9885426,essv9886297,essv9885314,essv9886326,essv9885432,essv9886587,essv9885437,essv9886531,essv9885337,essv9886372,essv9885438,essv9886477,essv9885421,essv9886555,essv9885350,essv9886354,essv9885457,essv9886476,essv9885476,essv9886499,essv9885479,essv9886374,essv9885300,essv9886485,essv9885384,essv9886313,essv9885328,essv9886495,essv9885413,essv9886281,essv9885461,essv9886486,essv9885295,essv9886447,essv9885301,essv9886559,essv9885509,essv9886397,essv9885306,essv9886381,essv9885383,essv9886346,essv9885312,essv9886276,essv9885320,essv9886338,essv9885517,essv9886308,essv9885304,essv9886336,essv9885368,essv9886417,essv9885343,essv9886592,essv9885439,essv9886435,essv9885395,essv9886352,essv9885356,essv9886520,essv9885400,essv9886345,essv9885349,essv9886349,essv9885392,essv9886322,essv9885363,essv9886563,essv9885447,essv9886549,essv9885321,essv9886528,essv9885373,essv9886287,essv9885406,essv9886356,essv9885386,essv9886266,essv9885417,essv9886572,essv9885378,essv9886589,essv9885390,essv9886567,essv9885280,essv9886383,essv9885420,essv9886412,essv9885523,essv9886515,essv9885428,essv9886450,essv9885435,essv9886461,essv9885492,essv9886262,essv9885419,essv9886319,essv9885429,essv9886419,essv9885465,essv9886434,essv9885496,essv9886395,essv9885482,essv9886454,essv9885450,essv9886573,essv9885303,essv9886575,essv9885412,essv9886391,essv9885414,essv9886465,essv9885416,essv9886544,essv9885415,essv9886410,essv9885331,essv9886516,essv9885329,essv9886396,essv9885388,essv9886537,essv9885334,essv9886339,essv9885462,essv9886500,essv9885407,essv9886331,essv9885333,essv9886538,essv9885311,essv9886316,essv9885393,essv9886267,essv9885278,essv9886333,essv9885464,essv9886449,essv9885315,essv9886329,essv9885485,essv9886307,essv9885527,essv9886335,essv9885515,essv9886542,essv9885497,essv9886404,essv9885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9884394,essv9884526,essv9884462,essv9884395,essv9884553,essv9884463,essv9884543,essv9884464,essv9884396,essv9884465,essv9884466,essv9884467,essv9884397,essv9884547,essv9884468,essv9884583,essv9884469,essv9884470,essv9884563,essv9884587,essv9884398,essv9884471,essv9884472,essv9884399,essv9884473,essv9884474,essv9884400,essv9884475,essv9884401,essv9884579,essv9884527,essv9884476,essv9884561,essv9884402,essv9884477,essv9884478,essv9884479,essv9884403,essv9884589,essv9884480,essv9884404,essv9884578,essv9884405,essv9884481,essv9884482,essv9884483,essv9884406,essv9884484,essv9884485,essv9884486,essv9884548,essv9884407,essv9884487,essv9884524,essv9884488,essv9884408,essv9884409,essv9884489,essv9884490,essv9884585,essv9884582,essv9884491,essv9884528,essv9884410,essv9884492,essv9884493,essv9884411,essv9884564,essv9884494,essv9884495,essv9884496,essv9884412,essv9884413,essv9884558,essv9884497,essv9884498,essv9884499,essv9884562,essv9884414,essv9884559,essv9884500,essv9884549,essv9884501,essv9884415,essv9884502,essv9884503,essv9884576,essv9884504,essv9884416,essv9884417,essv9884505,essv9884506,essv9884588,essv9884560,essv9884507,essv9884418,essv9884508,essv9884509,essv9884510,essv9884581,essv9884419,essv9884420,essv9884539,essv9884546,essv9884511,essv9884584,essv9884421,essv9884512,essv9884513,essv9884514,essv9884422,essv9884575,essv9884552,essv9884571,essv9884515,essv9884516,essv9884423,essv9884572,essv9884517,essv9884424,essv9884518,essv9884519,essv9884520 M 2504 0 2206 NBPF3 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NA19399,NA19401,NA19403,NA19404,NA19428,NA19429,NA19430,NA19431,NA19437,NA19445,NA19446,NA19448,NA19451,NA19454,NA19455,NA19456,NA19457,NA19461,NA19463,NA19466,NA19467,NA19468,NA19471,NA19472,NA19473,NA19474,NA19475,NA19625,NA19648,NA19649,NA19651,NA19652,NA19654,NA19655,NA19657,NA19658,NA19661,NA19663,NA19664,NA19669,NA19676,NA19678,NA19679,NA19681,NA19682,NA19684,NA19700,NA19701,NA19703,NA19711,NA19712,NA19713,NA19716,NA19717,NA19719,NA19720,NA19722,NA19725,NA19726,NA19728,NA19729,NA19731,NA19732,NA19734,NA19735,NA19740,NA19741,NA19746,NA19747,NA19750,NA19752,NA19755,NA19756,NA19758,NA19759,NA19761,NA19762,NA19764,NA19770,NA19771,NA19773,NA19774,NA19776,NA19777,NA19779,NA19780,NA19782,NA19783,NA19785,NA19786,NA19788,NA19789,NA19792,NA19794,NA19795,NA19818,NA19834,NA19835,NA19900,NA19901,NA19904,NA19913,NA19914,NA19916,NA19917,NA19920,NA19922,NA19923,NA19982,NA20126,NA20276,NA20278,NA20281,NA20282,NA20287,NA20289,NA20294,NA20298,NA20299,NA20314,NA20317,NA20318,NA20334,NA20340,NA20342,NA20351,NA20355,NA20356,NA20357,NA20359,NA20362,NA20412,NA20502,NA20503,NA20504,NA20505,NA20506,NA20507,NA20508,NA20509,NA20510,NA20511,NA20512,NA20513,NA20514,NA20515,NA20517,NA20518,NA20519,NA20520,NA20521,NA20522,NA20524,NA20527,NA20528,NA20529,NA20530,NA20531,NA20532,NA20533,NA20534,NA20535,NA20536,NA20538,NA20539,NA20540,NA20541,NA20542,NA20543,NA20544,NA20581,NA20582,NA20586,NA20588,NA20589,NA20752,NA20753,NA20754,NA20755,NA20757,NA20758,NA20759,NA20760,NA20761,NA20762,NA20763,NA20764,NA20765,NA20766,NA20767,NA20768,NA20769,NA20770,NA20771,NA20772,NA20774,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20790,NA20792,NA20795,NA20796,NA20797,NA20798,NA20799,NA20800,NA20801,NA20802,NA20803,NA20804,NA20805,NA20806,NA20807,NA20808,NA20809,NA20810,NA20811,NA20812,NA20813,NA20814,NA20815,NA20818,NA20819,NA20821,NA20826,NA20827,NA20828,NA20832,NA20845,NA20846,NA20847,NA20849,NA20850,NA20851,NA20852,NA20853,NA20854,NA20856,NA20859,NA20861,NA20862,NA20863,NA20864,NA20866,NA20867,NA20868,NA20869,NA20870,NA20874,NA20875,NA20876,NA20877,NA20878,NA20881,NA20882,NA20884,NA20885,NA20886,NA20887,NA20888,NA20889,NA20890,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20899,NA20900,NA20901,NA20902,NA20903,NA20904,NA20905,NA20906,NA20908,NA20910,NA20911,NA21086,NA21087,NA21088,NA21089,NA21090,NA21091,NA21092,NA21093,NA21094,NA21095,NA21097,NA21098,NA21099,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21106,NA21107,NA21108,NA21109,NA21110,NA21111,NA21112,NA21113,NA21114,NA21115,NA21116,NA21117,NA21118,NA21119,NA21120,NA21122,NA21123,NA21124,NA21125,NA21127,NA21128,NA21129,NA21130,NA21133,NA21137,NA21141,NA21142,NA21143,NA21144 nsv2801374 1 21786419 21786690 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13688016 M 2 0 1 NBPF3 nsv3321596 1 21786419 21786690 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478698,nssv14487268,nssv14487028,nssv14473128,nssv14474153,nssv14486545,nssv14483000,nssv14479738,nssv14483310,nssv14480388,nssv14491166 M 14 0 11 NBPF3 CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878 nsv4390888 1 21786419 21786690 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15705070 M 174 0 1 NBPF3 nsv3174277 1 21786419 21786691 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14445273,nssv14417842 M 9 0 0 NBPF3 HG00514,HG00733 nsv4040113 1 21786420 21786690 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848758 M 10847 0 1 NBPF3 nsv5426505 1 21786420 21786690 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900051 M 3202 0 1 NBPF3 nsv6328861 1 21786420 21786690 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057812 M 19652 0 1 NBPF3 esv2456631 1 21786420 21786691 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5375893 M 1 0 1 NBPF3 NA18507 esv1311289 1 21786420 21786692 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4347116 M 2 0 1 NBPF3 HuRef nsv1152902 1 21786421 21786693 CNV deletion John_et_al_2014 26484159 Sequencing nssv3997938 M 1 0 1 NBPF3 KWB1 nsv3049102 1 21786421 21786693 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14016226 M 2 0 1 NBPF3 NA12878 esv2745053 1 21787334 21787983 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6871721,essv6753504,essv6668962,essv6954754,essv6917441,essv6769526,essv6843887,essv6853247,essv6847030,essv6747790,essv6750610,essv6961567,essv6666905,essv6876920,essv6759053,essv6933313 M 96 0 16 NBPF3 SSM011,SSM012,SSM017,SSM021,SSM026,SSM027,SSM030,SSM031,SSM056,SSM057,SSM058,SSM061,SSM065,SSM086,SSM087,SSM091 esv2195718 1 21787551 21787999 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4650166 M 1 0 1 NBPF3 NA18507 esv2745064 1 21787666 21787881 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6871721,essv6668962,essv6954754,essv6853247,essv6843887,essv6847030,essv6961567 M 96 0 7 NBPF3 SSM011,SSM026,SSM027,SSM031,SSM086,SSM087,SSM091 nsv2801286 1 21787745 21787808 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13681603 M 2 0 1 NBPF3 nsv3321597 1 21787745 21787808 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475375,nssv14488785,nssv14483531,nssv14474492,nssv14473726,nssv14482010,nssv14473810,nssv14479550,nssv14477832,nssv14486152,nssv14479324 M 14 0 11 NBPF3 CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878 nsv5583479 1 21787745 21787808 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062512 M 35 0 1 NBPF3 HG00731 nsv5886884 1 21787745 21787808 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354165 M 914 0 1 NBPF3 esv1213372 1 21787745 21787809 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3769496 M 2 0 1 NBPF3 HuRef esv2990456 1 21787745 21787809 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7260023 M 1 0 1 NBPF3 HuRef esv3555566 1 21787745 21787809 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9754313 M 767 0 1 NBPF3 nsv1122308 1 21787745 21787809 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969760,nssv3982423 M 2 0 2 NBPF3 KWS1,KWS2 nsv3941244 1 21787745 21787809 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181129 M 1 0 1 NBPF3 HG002 nsv4047880 1 21787745 21787809 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848759 M 10847 0 1 NBPF3 nsv4730402 1 21787745 21787809 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16276059 M 25 0 1 NBPF3 nsv5422499 1 21787745 21787809 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900052 M 3202 0 1 NBPF3 nsv5982396 1 21787745 21787809 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524094 M 405 0 1 NBPF3 esv3682655 1 21787745 21787810 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467466 M 20 0 1 NBPF3 nsv160214 1 21787746 21787809 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178792 M 24 NBPF3 nsv4390889 1 21787746 21787809 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15705182 M 174 0 1 NBPF3 nsv3062907 1 21787746 21787810 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14038143 M 2 0 1 NBPF3 NA12878 nsv3179263 1 21787747 21787810 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14417459,nssv14444396 M 9 0 0 NBPF3 HG00514,HG00733 esv3350627 1 21788065 21794663 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692123 M 185 1 0 NBPF3 NA19239 nsv1124565 1 21788400 21792000 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3976619 M 2 1 0 NBPF3 KWS2 nsv1152841 1 21790099 21792000 CNV duplication John_et_al_2014 26484159 Sequencing nssv3997875 M 1 1 0 NBPF3 KWB1 nsv4460315 1 21790694 21790695 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028141 M 10847 1 0 NBPF3 esv2661318 1 21793442 21798216 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5446520 M 1151 0 1 NBPF3 HG00427 nsv5884852 1 21793500 21798116 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358229 M 914 0 1 NBPF3 nsv5427499 1 21793500 21798117 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900053 M 3202 0 1 NBPF3 nsv5982783 1 21793500 21798118 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535456 M 405 0 1 NBPF3 nsv5607445 1 21796562 21796562 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062518 M 35 1 0 NBPF3 HG03371 nsv4565564 1 21800989 21800990 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028151 M 10847 1 0 NBPF3 nsv5719302 1 21804112 21804112 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17250113 M 3202 1 0 NBPF3 nsv4566002 1 21804112 21804113 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028160 M 10847 1 0 NBPF3 nsv945575 1 21806167 21806907 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570661,nssv2570662,nssv2570653,nssv2570652,nssv2570655,nssv2570657,nssv2570659,nssv2570658,nssv2570654,nssv2570651,nssv2570660,nssv2570656 M 97 10 0 NBPF3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3666617 1 21806356 21806507 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489160 M 20 0 0 NBPF3 nsv945576 1 21806907 21809183 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2570715,nssv2570670,nssv2570724,nssv2570751,nssv2570741,nssv2570708,nssv2570729,nssv2570692,nssv2570731,nssv2570669,nssv2570730,nssv2570706,nssv2570742,nssv2570679,nssv2570713,nssv2570672,nssv2570714,nssv2570675,nssv2570737,nssv2570687,nssv2570734,nssv2570674,nssv2570733,nssv2570704,nssv2570743,nssv2570668,nssv2570725,nssv2570694,nssv2570719,nssv2570664,nssv2570726,nssv2570667,nssv2570739,nssv2570711,nssv2570735,nssv2570696,nssv2570744,nssv2570750,nssv2570722,nssv2570709,nssv2570740,nssv2570701,nssv2570732,nssv2570666,nssv2570717,nssv2570702,nssv2570718,nssv2570693,nssv2570738,nssv2570710,nssv2570727,nssv2570682,nssv2570721,nssv2570663,nssv2570723,nssv2570707,nssv2570716,nssv2570712,nssv2570720,nssv2570689,nssv2570736,nssv2570665,nssv2570728,nssv2570749,nssv2570753,nssv2570690,nssv2570677,nssv2570673,nssv2570684,nssv2570754,nssv2570678,nssv2570748,nssv2570676,nssv2570700,nssv2570685,nssv2570681,nssv2570747,nssv2570699,nssv2570686,nssv2570683,nssv2570680,nssv2570745,nssv2570697,nssv2570752,nssv2570698,nssv2570671,nssv2570705,nssv2570703,nssv2570695,nssv2570691,nssv2570746,nssv2570688 M 97 10 0 NBPF3 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3202196 1 21809599 21811209 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355902,nssv14355901,nssv14355900,nssv14355903,nssv14355899 M 9 0 5 NBPF3 HG00512,HG00513,HG00514,HG00731,NA19238 nsv1142052 1 21814227 21814315 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3993562 M 2 1 0 "" KWS2 nsv5433916 1 21816408 21821368 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900054 M 3202 1 0 "" nsv6322853 1 21816460 21821370 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200563 M 19652 1 0 "" nsv6317701 1 21818060 21819176 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057886 M 19652 0 1 "" nsv4044695 1 21819476 21819550 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848760 M 10847 0 1 "" esv3585448 1 21822915 21828051 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9888819,essv9888820 M 2504 0 2 "" HG00174,HG02798 nsv5829427 1 21822947 21828092 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460767 M 914 0 0 "" nsv5874180 1 21822953 21828056 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361536 M 914 0 1 "" esv2677728 1 21822953 21828057 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6320059 M 1151 0 1 "" HG00174 nsv4039147 1 21822955 21828057 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848761 M 10847 0 1 "" nsv5419493 1 21822955 21828057 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900056 M 3202 0 1 "" nsv6328021 1 21822955 21828057 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057880 M 19652 0 1 "" nsv527108 1 21823292 21826566 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv703488 M 2026 0 1 "" nsv4045667 1 21823486 21823584 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848762 M 10847 0 1 "" nsv5423695 1 21823517 21823584 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900057 M 3202 0 1 "" nsv5725629 1 21826258 21826258 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17235041 M 3202 1 0 "" nsv4570750 1 21826258 21826259 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029344 M 10847 1 0 "" nsv5716056 1 21826274 21826274 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17241858 M 3202 1 0 "" nsv5556348 1 21826274 21826309 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900059 M 3202 1 0 "" nsv5606088 1 21829199 21829199 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062657 M 35 1 0 "" HG00096 esv3663832 1 21831480 21831480 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486652 M 20 1 0 "" nsv4460973 1 21840224 21840225 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029353 M 10847 1 0 ALPL nsv5676723 1 21840238 21840238 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17183726 M 3202 1 0 ALPL nsv5398468 1 21840238 21840289 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683862 M 3202 1 0 ALPL nsv5622077 1 21841335 21841335 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062662 M 35 1 0 ALPL HG03009 nsv4043928 1 21842397 21850585 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966077 M 10847 1 0 ALPL dgv24e212 1 21843443 21850789 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577776,esv3577779,esv3577778,esv3577777 M 873 0 91 ALPL 400051MR,4000657TM,400070PC,400072GR,400073HT,400076LC,400128MJ,400171BJ,400178RH,400204SC,400235MP,400255CD,400269DA,400287BP,400294HD,40031BA,400320RN,400422PN,400430KV,400432VA,400453LN,400454RE,400496BL,400509CJ,400512LR,400534ME,400572PJ,400588BE,400606HW,400618GC,400627CC,400671PP,400702PA,400719TM,400789KV,400879DS,400886MP,400890IT,400908PJ,400914ER,400943DV,400960TN,400977SC,400983PV,401027KW,401054VM,401057SS,401067BD,401085LA,401096SL,401175FA,401176BD,401196CR,401234MB,401246HH,401250WD,401258PC,401259LS,401268PS,401275SJ,401297KC,401347DH,401369GR,401414CR,401415CB,401426WD,401428LD,401453OL,401497PR,401499JR,401526WB,401543DC,401609MB,401721CP,401736BF,401806DL,401847RK,401855RE,401869BG,401874DJ,401875FG,401894PD,401913GT,401926MR,401942MP,401958MF,401977ES,402008MC,402019MC,402023EC,402062KR nsv6321006 1 21847206 21848746 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057889 M 19652 0 1 ALPL nsv4043095 1 21847356 21847598 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848763 M 10847 0 1 ALPL nsv6317577 1 21848791 21850719 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057891 M 19652 0 1 ALPL nsv834391 1 21849933 22050482 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443963,nssv1443951,nssv1443929,nssv1443940,nssv1443918 M 95 0 5 ALPL,RAP1GAP,USP48 nsv5614404 1 21853508 21853508 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062669 M 35 1 0 ALPL HG01505 nsv5956878 1 21853508 21853508 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353849 M 914 1 0 ALPL esv1457635 1 21853539 21853539 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3639911 M 2 1 0 ALPL HuRef nsv4537048 1 21853539 21853540 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029361 M 10847 1 0 ALPL nsv6318858 1 21853608 21858707 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057895 M 19652 0 1 ALPL nsv6335078 1 21854739 21857003 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057899 M 19652 0 1 ALPL nsv6317303 1 21855500 21860273 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057903 M 19652 0 1 ALPL nsv517096 1 21863691 21996848 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv667702,nssv705217,nssv653597,nssv678465,nssv657650,nssv671036,nssv683155,nssv661510,nssv695226,nssv674624,nssv651804,nssv667278,nssv678892,nssv658962,nssv682220,nssv699191,nssv682311,nssv679211,nssv674071,nssv652854,nssv676837 M 2026 0 21 ALPL,RAP1GAP nsv4041846 1 21867829 21868072 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848764 M 10847 0 1 ALPL esv2745075 1 21871040 21873481 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6839980 M 96 0 1 ALPL SSM084 nsv6332246 1 21878252 21882297 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200567 M 19652 1 0 ALPL nsv6334426 1 21878516 21881346 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057953 M 19652 0 1 ALPL nsv4046982 1 21880905 21880969 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966078 M 10847 1 0 ALPL nsv6040788 1 21880984 21880984 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520783 M 405 1 0 ALPL nsv5419094 1 21881236 21882459 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900064 M 3202 0 1 ALPL nsv5982467 1 21881279 21881334 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522789 M 405 0 1 ALPL nsv4460977 1 21881282 21881283 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029370 M 10847 1 0 ALPL nsv6540156 1 21882050 21883110 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248578 M 19652 0 0 ALPL nsv5874056 1 21882859 21883156 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361576 M 914 0 1 ALPL nsv4518108 1 21885304 21885610 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848765 M 10847 0 1 ALPL nsv460740 1 21889506 21899491 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537258 M 1557 0 1 ALPL NINDS_181 nsv545736 1 21889506 21899491 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173793 M 17421 0 1 ALPL NINDS_181 nsv998678 1 21891243 21941023 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479306 M 11257 1 0 ALPL,RAP1GAP nsv477018 1 21892606 21892606 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020352 M 9 1 0 ALPL NA12878 esv2672081 1 21894315 21896436 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6529152 M 1151 0 1 ALPL HG00566 nsv5427670 1 21894382 21896314 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900066 M 3202 0 1 ALPL esv3585450 1 21894401 21896364 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9888822 M 2504 0 1 ALPL HG00566 nsv5868383 1 21897892 21898208 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367641 M 914 0 1 ALPL nsv5414993 1 21898452 21898577 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900067 M 3202 0 1 ALPL nsv5873679 1 21900102 21900160 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366272 M 914 0 1 ALPL nsv6323824 1 21901079 21901608 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057969 M 19652 0 1 ALPL nsv5419214 1 21901082 21901608 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900068 M 3202 0 1 ALPL nsv4537645 1 21902667 21902668 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029938 M 10847 1 0 ALPL nsv3937734 1 21902717 21902717 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192666 M 1 1 0 ALPL HG002 nsv4444866 1 21902717 21902717 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757724 M 1 1 0 ALPL nsv5612270 1 21902717 21902717 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062681 M 35 1 0 ALPL HG00731 nsv6047662 1 21902717 21902717 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537104 M 405 1 0 ALPL nsv2801538 1 21902718 21902718 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694983 M 2 1 0 ALPL nsv3322218 1 21902718 21902718 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491161 M 14 1 0 ALPL CHM1 nsv508359 1 21904874 21980691 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622758 M 4 0 1 ALPL,RAP1GAP NA18994 nsv509002 1 21904874 21980691 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619779 M 4 1 0 ALPL,RAP1GAP NA10860 nsv5624272 1 21906804 21906804 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062682 M 35 1 0 "" HG02011 nsv4050028 1 21906836 21907424 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848766 M 10847 0 1 "" nsv5885720 1 21907723 21909047 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17356696 M 914 1 0 "" nsv6330855 1 21907744 21909069 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057973 M 19652 0 1 "" nsv5829191 1 21908027 21909140 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458504 M 914 0 0 "" nsv470704 1 21917234 21938374 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547717 M 443 1 0 RAP1GAP HGDP00599 nsv6316529 1 21918923 21920388 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057989 M 19652 0 1 "" nsv5544988 1 21921191 21921240 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900070 M 3202 1 0 "" nsv954902 1 21926201 21981000 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003151 M 1 0 1 RAP1GAP BILGI_BIOE nsv4460981 1 21926719 21926720 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029947 M 10847 1 0 RAP1GAP esv1002267 1 21935315 21944866 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564498 M 3 0 1 RAP1GAP HuRef nsv6328488 1 21944794 21945993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057282 M 19652 0 1 RAP1GAP nsv6323460 1 21953270 21962760 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057299 M 19652 0 1 RAP1GAP esv3892747 1 21953436 21970289 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25780387 M 3017 0 1 RAP1GAP nsv475097 1 21955597 21955597 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019566 M 9 1 0 RAP1GAP NA19240 nsv460751 1 21958536 21988622 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537263 M 1557 0 1 RAP1GAP 1780854065_A nsv545737 1 21958536 21988622 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173794 M 17421 0 1 RAP1GAP 1780854065_A nsv5622289 1 21963226 21963226 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062789 M 35 1 0 RAP1GAP HG02587 nsv4036855 1 21970026 21970112 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848767 M 10847 0 1 RAP1GAP nsv5420373 1 21970026 21970112 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900071 M 3202 0 1 RAP1GAP nsv6332841 1 21975194 21978493 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057517 M 19652 0 1 RAP1GAP nsv1075713 1 21977999 21978600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769369 M 1 0 1 RAP1GAP KWP1 nsv1118104 1 21978000 21978700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980323 M 2 0 1 RAP1GAP KWS1 nsv5982629 1 21980194 21980481 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518359 M 405 0 1 RAP1GAP nsv4043080 1 21980195 21980481 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848768 M 10847 0 1 RAP1GAP nsv5418322 1 21980195 21980481 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900072 M 3202 0 1 RAP1GAP nsv3056104 1 21986833 21986833 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025202 M 2 1 0 RAP1GAP NA12878 nsv4764101 1 21986838 21986838 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284526 M 25 1 0 RAP1GAP nsv2801381 1 21986839 21986839 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680610 M 2 1 0 RAP1GAP nsv3321802 1 21986839 21986839 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481563,nssv14489950,nssv14490339,nssv14489141,nssv14490545,nssv14486749 M 14 6 0 RAP1GAP CHM13,HG00733,HG02059,HG02106,HG04217,HX1 nsv3561453 1 21986845 21986845 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355927,nssv14355928 M 9 2 0 RAP1GAP HG00731,HG00732 nsv5619433 1 21986845 21986845 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062792 M 35 1 0 RAP1GAP HG00731 nsv3531897 1 21986846 21986846 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438816 M 9 1 0 RAP1GAP HG00733 nsv6057035 1 21986846 21986846 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531775 M 405 1 0 RAP1GAP nsv5854 1 22003149 22038109 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3954 M 9 1 0 USP48 NA12878 nsv5885325 1 22006477 22006532 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360675 M 914 0 1 USP48 nsv5982695 1 22006477 22006533 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535977 M 405 0 1 USP48 nsv4040977 1 22006477 22006534 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848769 M 10847 0 1 USP48 nsv5419699 1 22006477 22006534 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900073 M 3202 0 1 USP48 nsv5982791 1 22010311 22011517 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520061 M 405 0 1 USP48 nsv4050630 1 22010313 22011515 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849326 M 10847 0 1 USP48 nsv5582884 1 22012326 22012411 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062945 M 35 0 1 USP48 HG03486 nsv5886260 1 22012326 22012411 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361164 M 914 0 1 USP48 nsv6325232 1 22012326 22012412 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057554 M 19652 0 1 USP48 nsv4516549 1 22012335 22012412 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849327 M 10847 0 1 USP48 nsv5419354 1 22012335 22012412 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900074 M 3202 0 1 USP48 nsv5681179 1 22013343 22013343 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17183229 M 3202 1 0 USP48 nsv5409191 1 22013343 22013394 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900075 M 3202 1 0 USP48 nsv4460855 1 22013538 22013539 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029958 M 10847 1 0 USP48 nsv5884982 1 22018585 22018699 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360794 M 914 0 1 USP48 nsv5430035 1 22018585 22018700 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900076 M 3202 0 1 USP48 nsv4040755 1 22021013 22021133 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849328 M 10847 0 1 USP48 nsv1008548 1 22021145 22068259 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478122 M 11257 0 1 USP48 nsv5879434 1 22023894 22287543 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17351270 M 914 1 0 HSPG2,LDLRAD2,USP48 nsv1126184 1 22031200 22034100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984413 M 2 0 1 USP48 KWS1 nsv999475 1 22035860 22088841 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3480239 M 11257 0 1 USP48 nsv4534901 1 22036607 22036608 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029969 M 10847 1 0 USP48 nsv5982630 1 22038579 22038637 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530013 M 405 0 1 USP48 nsv5965 1 22040958 22071482 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6413 M 9 1 0 USP48 NA12156 nsv5720535 1 22041419 22041419 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17245489 M 3202 1 0 USP48 nsv4535455 1 22041419 22041420 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029978 M 10847 1 0 USP48 nsv5719754 1 22041439 22041439 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17237877 M 3202 1 0 USP48 nsv5828893 1 22042130 22043159 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454582 M 914 0 0 USP48 nsv508470 1 22042665 22131109 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622759 M 4 0 1 USP48 NA18994 nsv4559826 1 22045174 22046271 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789122 M 10847 0 0 USP48 nsv6540784 1 22056921 22057447 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248605 M 19652 0 0 USP48 nsv6546025 1 22057758 22058379 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248607 M 19652 0 0 USP48 nsv5422006 1 22058114 22059636 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900078 M 3202 0 1 USP48 nsv5886722 1 22064718 22066570 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357433 M 914 0 1 USP48 nsv5422701 1 22064718 22066571 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683863 M 3202 0 1 USP48 nsv6541097 1 22064867 22065874 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248608 M 19652 0 0 USP48 nsv5678367 1 22067725 22067725 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205693 M 3202 1 0 USP48 nsv5400172 1 22067725 22067776 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900079 M 3202 1 0 USP48 nsv5677273 1 22068169 22068169 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17182333 M 3202 1 0 USP48 nsv5410512 1 22068169 22068183 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900080 M 3202 1 0 USP48 nsv6545010 1 22074279 22075253 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248611 M 19652 0 0 USP48 nsv4568179 1 22078560 22078561 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029987 M 10847 1 0 USP48 nsv6331328 1 22082524 22082846 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057610 M 19652 0 1 USP48 nsv5417032 1 22082529 22082845 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900081 M 3202 0 1 USP48 esv2678062 1 22086790 22087238 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5504319 M 1151 0 1 USP48 NA19311 nsv6321396 1 22086931 22087310 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057614 M 19652 0 1 USP48 nsv5417772 1 22086973 22087310 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900082 M 3202 0 1 USP48 nsv5414112 1 22087436 22090135 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900083 M 3202 0 1 USP48 nsv6330105 1 22089218 22098258 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057621 M 19652 0 1 USP48 nsv6333898 1 22089253 22090193 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057622 M 19652 0 1 USP48 nsv5429210 1 22091153 22092026 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900084 M 3202 0 1 USP48 nsv4037273 1 22092000 22099000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849329 M 10847 0 1 USP48 nsv6325877 1 22093391 22097189 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057628 M 19652 0 1 USP48 nsv6551119 1 22093570 22094023 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248623 M 19652 0 0 USP48 nsv4050680 1 22100670 22104594 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849331 M 10847 0 1 USP48 nsv6328091 1 22100670 22104594 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057635 M 19652 0 1 USP48 nsv6552919 1 22101479 22101603 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248629 M 19652 0 0 USP48 nsv5693088 1 22105115 22105115 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17183865 M 3202 1 0 USP48 nsv5982632 1 22107437 22107538 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526034 M 405 0 1 USP48 nsv6320491 1 22110120 22156797 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057649 M 19652 0 1 HSPG2,LDLRAD2 nsv4041961 1 22111245 22117276 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849332 M 10847 0 1 "" nsv5879616 1 22111597 22115627 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359581 M 914 0 1 "" nsv5828895 1 22111627 22115642 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466791 M 914 0 0 "" esv3663838 1 22111633 22111633 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486658 M 20 1 0 "" esv3585453 1 22113048 22121361 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9888873,essv9888872 M 2504 0 2 "" NA19439,NA19625 esv2667441 1 22113086 22121370 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5484073 M 1151 0 1 "" NA19625 nsv5429920 1 22113091 22121370 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900085 M 3202 0 1 "" nsv6319955 1 22113762 22114304 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200586 M 19652 1 0 "" nsv6327583 1 22115994 22121993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057654 M 19652 0 1 "" nsv5868004 1 22117273 22117576 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363081 M 914 0 1 "" nsv5828896 1 22117343 22118642 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464102,nssv17451049 M 914 0 0 "" nsv6052626 1 22117381 22117381 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533402 M 405 1 0 "" nsv5420187 1 22117384 22121963 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900086 M 3202 0 1 "" nsv6328552 1 22117394 22119793 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057456 M 19652 0 1 "" esv3585454 1 22117407 22121971 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9888882,essv9888877,essv9888883,essv9888880,essv9888876,essv9888884,essv9888879,essv9888874,essv9888881,essv9888875,essv9888878 M 2504 0 11 "" HG01914,HG02323,HG03063,HG03258,NA19102,NA19114,NA19184,NA19310,NA19331,NA19385,NA19439 nsv4036080 1 22117417 22121963 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849333 M 10847 0 1 "" nsv5829352 1 22117418 22122017 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451106 M 914 0 0 "" nsv5572900 1 22117422 22121962 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062965 M 35 0 1 "" HG03065 nsv5876925 1 22117422 22121962 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358793 M 914 0 1 "" esv2660344 1 22117422 22121963 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6295021,essv6196403,essv5791389 M 1151 0 3 "" NA19102,NA19385,NA19439 nsv6052446 1 22117573 22117573 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530927 M 405 1 0 "" nsv6553948 1 22118498 22119037 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248639 M 19652 0 0 "" nsv5426278 1 22118947 22122707 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900087 M 3202 1 0 "" nsv6324175 1 22119009 22119630 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057458 M 19652 0 1 "" nsv5559838 1 22119347 22123081 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900088 M 3202 0 0 "" nsv5829353 1 22119843 22121992 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451773,nssv17463445 M 914 0 0 "" nsv4033263 1 22120000 22127000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966080 M 10847 1 0 "" nsv5418674 1 22120103 22123806 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900089 M 3202 0 1 "" nsv6316595 1 22120138 22126770 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200588 M 19652 1 0 "" nsv5876367 1 22120343 22144755 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17366694 M 914 1 0 LDLRAD2 nsv5829439 1 22121243 22143624 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450553 M 914 0 0 LDLRAD2 nsv4049147 1 22122824 22122906 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849334 M 10847 0 1 "" nsv4033090 1 22122895 22126224 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849335 M 10847 0 1 "" nsv5982574 1 22122973 22123069 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527026 M 405 0 1 "" nsv4051712 1 22125559 22130265 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849336 M 10847 0 1 "" nsv545738 1 22126329 22158363 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711289 M 17421 0 1 HSPG2,LDLRAD2 nsv515659 1 22126329 22265293 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv663807,nssv669785,nssv695098,nssv669540,nssv687314,nssv705427,nssv705759,nssv664272,nssv704109 M 2026 0 9 HSPG2,LDLRAD2 nsv4042892 1 22126902 22130199 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966081 M 10847 1 0 "" nsv6323429 1 22126907 22130225 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200589 M 19652 1 0 "" nsv6331513 1 22127650 22128264 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057461 M 19652 0 1 "" nsv6319512 1 22128394 22130293 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057462 M 19652 0 1 "" nsv9546 1 22128578 22137971 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv17753 M 31 1 0 "" NA18972 nsv6328489 1 22128940 22139747 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057463 M 19652 0 1 LDLRAD2 nsv5534909 1 22130247 22130247 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900090 M 3202 1 0 "" nsv5605875 1 22130247 22130247 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062970 M 35 1 0 "" HG00096 nsv509013 1 22131109 22301601 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621086 M 4 1 0 HSPG2,LDLRAD2 NA15510 nsv4046753 1 22131602 22132205 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966082 M 10847 1 0 "" nsv5424529 1 22131632 22132205 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900091 M 3202 1 0 "" nsv6326168 1 22131632 22132205 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200590 M 19652 1 0 "" esv33753 1 22131944 22137344 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv93649 M 51 0 1 "" 21972 nsv5828897 1 22133286 22134385 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462138,nssv17453155 M 914 0 0 "" esv3663846 1 22133679 22133679 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486665 M 20 1 0 "" nsv6318122 1 22133705 22134554 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057465 M 19652 0 1 "" nsv5415430 1 22134865 22134923 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902290 M 3202 0 1 "" nsv6327933 1 22135228 22137706 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057466 M 19652 0 1 "" nsv834402 1 22135232 22323122 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1443974,nssv1443985,nssv1443996 M 95 0 3 CELA3B,HSPG2,LDLRAD2 nsv6546946 1 22135755 22136258 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248643 M 19652 0 0 "" nsv6334553 1 22136561 22141992 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057467 M 19652 0 1 LDLRAD2 esv33407 1 22139098 22139218 CNV gain de_Smith_et_al_2007 17666407 Oligo aCGH essv94051,essv97064,essv95849,essv95073,essv97380,essv94942,essv97131,essv100572,essv99600,essv94306,essv99343 M 51 11 0 LDLRAD2 21721,21802,21808,21817,21879,21911,22075,22217,22231,22275,22298 nsv460762 1 22141983 22184552 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537273 M 1557 0 1 HSPG2,LDLRAD2 NINDS_70 dgv180n54 1 22141983 22190933 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545740,nsv545739 M 17421 0 2 HSPG2,LDLRAD2 NINDS_70 nsv469549 1 22142065 22346503 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1674276,nssv1675099,nssv1675868 M 265 0 3 CELA3A,CELA3B,HSPG2,LDLRAD2 nsv4051674 1 22143350 22143967 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849338 M 10847 0 1 LDLRAD2 nsv4044594 1 22144105 22144748 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849339 M 10847 0 1 LDLRAD2 esv2745086 1 22144491 22144717 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6868718,essv6889012,essv6797455,essv6877669,essv6725851,essv6883258,essv6816592,essv6880421,essv6766552,essv6885985,essv6689268,essv6871722,essv6829007,essv6892323,essv6718168,essv6895851,essv6902544,essv6898616,essv6776943,essv6793296,essv6784996,essv6916773,essv6925697,essv6710592,essv6729629,essv6675207,essv6707273,essv6668963,essv6669310,essv6780879,essv6929061,essv6954755,essv6789159,essv6824986,essv6722012,essv6921734,essv6801622,essv6941791,essv6836194,essv6807380,essv6699596,essv6859199,essv6946505,essv6816776,essv6853248,essv6967936,essv6847032,essv6972355,essv6804407,essv6692775,essv6703866,essv6810341,essv6682836,essv6961568,essv6832605,essv6696994,essv6876932,essv6950566,essv6686157,essv6863966,essv6821190,essv6937688,essv6843892,essv6679179 M 96 0 64 LDLRAD2 SSM003,SSM005,SSM010,SSM012,SSM013,SSM018,SSM019,SSM020,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM041,SSM042,SSM044,SSM045,SSM046,SSM047,SSM064,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 nsv4731860 1 22144493 22144634 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16276439 M 25 0 1 LDLRAD2 nsv5583971 1 22144499 22144633 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062796 M 35 0 1 LDLRAD2 HG00731 nsv4449387 1 22144499 22144634 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15756360 M 1 0 1 LDLRAD2 nsv3176039 1 22144500 22144635 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382858,nssv14417106,nssv14443159 M 9 0 3 LDLRAD2 HG00514,HG00733,NA19240 nsv2800654 1 22144501 22144635 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13699187 M 2 0 1 LDLRAD2 nsv3321808 1 22144501 22144635 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14489640,nssv14486349,nssv14489294,nssv14482013,nssv14486431,nssv14488608,nssv14486067,nssv14491457,nssv14488533,nssv14478583,nssv14482090,nssv14490629,nssv14480126 M 14 0 13 LDLRAD2 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240,NA19434 nsv3942673 1 22144516 22144651 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181130 M 1 0 1 LDLRAD2 HG002 nsv5982635 1 22144546 22144679 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534334 M 405 0 1 LDLRAD2 nsv1114948 1 22144576 22144700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975246 M 2 0 1 LDLRAD2 KWS1 nsv1075716 1 22144591 22144794 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767693 M 1 0 1 LDLRAD2 KWP1 nsv954987 1 22144598 22144690 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000454 M 1 0 1 LDLRAD2 BILGI_BIOE esv2664487 1 22144620 22144756 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6295984,essv6103325,essv5950482,essv6061678,essv5775589,essv6516735,essv5780001,essv6349296,essv6532326,essv5767492,essv6289010,essv6013591,essv6288270,essv5958339,essv5865727,essv5637597,essv6596088,essv6488245,essv6409497,essv6530458,essv6413396,essv6197026,essv6297264,essv5704739,essv6124286,essv6480583,essv5442825,essv6580642,essv6384583,essv6073616,essv6218807,essv6346196,essv5447344,essv6528663,essv5497098,essv6582790,essv6118955,essv6057458,essv5711944,essv6037767,essv6333154,essv6310524,essv6382854,essv5481177,essv6375748,essv6157633,essv5557685,essv5509074,essv5485444,essv6308569,essv5922526,essv6382450,essv5946087,essv5406138,essv6179935,essv5801820,essv5847292,essv6450043,essv5834489,essv6583668,essv5749863,essv5467344,essv6559122,essv5659892,essv5862862,essv5417191,essv5476312,essv5753746,essv5868066,essv5667831,essv6227723,essv6102078,essv5573001,essv5607056,essv5758414,essv6467664,essv5893040,essv5529705,essv5454011,essv5783186,essv5824865,essv5537636,essv5541664,essv6021259,essv6547190,essv5652469,essv6297209,essv6415318,essv5925758,essv5685700,essv6079480,essv5884391,essv5521912,essv5812876,essv6373184,essv6514968,essv5584999,essv5867948,essv5577251,essv5539606,essv5851199,essv5531112,essv5987368,essv6071679,essv6149947,essv5887577,essv6295787,essv6443639,essv6211866,essv5496262,essv6197518,essv5453306,essv6212721,essv6173365,essv6595397,essv6576428,essv5688133,essv5484559,essv6094538,essv6211088,essv6375682,essv6256492,essv5421452,essv6327908,essv5866166,essv5750169,essv5606801,essv5451542,essv6248667,essv5742428,essv5539425,essv6110824,essv6106954,essv6276302,essv6428412,essv6012939,essv5917845,essv6431938,essv6183028,essv5998740,essv5787777,essv6587821,essv6471879,essv6416184,essv6098904,essv5857805,essv5785611,essv5735588,essv5703713,essv6182884,essv5420760,essv6460904,essv5996612,essv6063273,essv5587297,essv6350220,essv6336842,essv6056170,essv5429884,essv5458541,essv5581896,essv5521110,essv6569200,essv5490276,essv5530904,essv6475674,essv6196676,essv5818318,essv6002941,essv6549287,essv6333877,essv5609052,essv6316318,essv6080981,essv5916010,essv6284746,essv6308299,essv5926157,essv6587349,essv6070942,essv5846205,essv6570590,essv6091728,essv6288777,essv5746286,essv6493029,essv6302661,essv6392558,essv6540652,essv5934340,essv5436720,essv5883391,essv5870454,essv5709665,essv5688874,essv6500637,essv5777678,essv6596931,essv6380043,essv6076284,essv6258070,essv5742433,essv6593140,essv6187772,essv6357064,essv6033036,essv5599191,essv6568991,essv6112138,essv5890406,essv5552690,essv6019442,essv6151997,essv6081596,essv6040105,essv6167739,essv6328312,essv5901197,essv6055969,essv6118787,essv6385838,essv6095728,essv5951996,essv6238759,essv5522103,essv6251048,essv5413446,essv5889312,essv6127139,essv5723708,essv5705735,essv5858728,essv5566179,essv6503183,essv5747739,essv5835985,essv6045705,essv5552132,essv6166929,essv5444447,essv5874233,essv5986375,essv6562556,essv6182224,essv6497044,essv5760628,essv6427698,essv6139268,essv5504001,essv5812534,essv6524274,essv6121538,essv5596129,essv6306721,essv6114158,essv6438738,essv6178109,essv6544245,essv6569207,essv6163628,essv5626652,essv6248398,essv5765305,essv6050969,essv5515161,essv6094797,essv6068524 M 1151 0 267 LDLRAD2 HG00106,HG00108,HG00111,HG00114,HG00125,HG00136,HG00137,HG00138,HG00139,HG00140,HG00154,HG00185,HG00186,HG00187,HG00232,HG00237,HG00239,HG00246,HG00249,HG00250,HG00251,HG00252,HG00253,HG00254,HG00256,HG00257,HG00259,HG00260,HG00261,HG00263,HG00268,HG00271,HG00272,HG00273,HG00275,HG00276,HG00277,HG00278,HG00280,HG00281,HG00282,HG00284,HG00285,HG00309,HG00310,HG00313,HG00315,HG00318,HG00319,HG00320,HG00321,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00330,HG00331,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00344,HG00345,HG00346,HG00369,HG00372,HG00373,HG00375,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00436,HG00437,HG00442,HG00443,HG00448,HG00449,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00543,HG00556,HG00557,HG00580,HG00581,HG00583,HG00584,HG00589,HG00590,HG00607,HG00608,HG00613,HG00614,HG00619,HG00620,HG00629,HG00635,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG01048,HG01051,HG01052,HG01055,HG01060,HG01061,HG01066,HG01069,HG01070,HG01072,HG01073,HG01079,HG01080,HG01082,HG01083,HG01101,HG01107,HG01108,HG01125,HG01133,HG01136,HG01171,HG01173,HG01174,HG01183,HG01187,HG01188,HG01334,HG01350,HG01351,HG01353,HG01356,HG01365,HG01366,HG01378,HG01383,HG01389,HG01390,HG01437,HG01440,HG01441,HG01488,HG01492,NA11918,NA18530,NA18532,NA18534,NA18536,NA18543,NA18544,NA18546,NA18549,NA18550,NA18557,NA18559,NA18561,NA18562,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18582,NA18595,NA18597,NA18602,NA18603,NA18605,NA18606,NA18610,NA18611,NA18612,NA18613,NA18620,NA18621,NA18622,NA18623,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18638,NA18923,NA19009,NA19083,NA19087,NA19138,NA19360,NA19371,NA19372,NA19374,NA19376,NA19379,NA19380,NA19381,NA19382,NA19383,NA19384,NA19385,NA19390,NA19391,NA19394,NA19395,NA19396,NA19397,NA19398,NA19399,NA19401,NA19403,NA19404,NA19428,NA19457,NA20507,NA20513,NA20768 esv3666680 1 22144620 22144757 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489216 M 20 0 0 LDLRAD2 esv1196174 1 22144648 22144783 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3606269 M 2 0 1 LDLRAD2 HuRef nsv3322072 1 22144652 22144790 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14484747 M 14 0 1 LDLRAD2 NA19434 nsv5609876 1 22144756 22144756 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062797 M 35 1 0 LDLRAD2 HG01114 nsv3322226 1 22144757 22144757 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489892 M 14 1 0 LDLRAD2 HG02106 nsv470706 1 22147077 22328278 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547719,nssv547718 M 443 0 2 CELA3A,CELA3B,HSPG2,LDLRAD2 HGDP00546,HGDP00550 nsv3322073 1 22149365 22149365 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485907 M 14 1 0 HSPG2,LDLRAD2 HG02106 nsv545741 1 22149935 22165901 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711291 M 17421 1 0 HSPG2,LDLRAD2 esv3577780 1 22151494 22163632 CNV loss Uddin_et_al_2014 25503493 SNP array essv9818754,essv9818643 M 873 0 2 HSPG2,LDLRAD2 400827MM,401195PN nsv4460998 1 22153870 22153871 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029998 M 10847 1 0 HSPG2 nsv5684446 1 22153888 22153888 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205694,nssv17183274 M 3202 2 0 HSPG2 nsv5399012 1 22153888 22153939 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902292 M 3202 1 0 HSPG2 nsv5615624 1 22168187 22168187 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062800 M 35 1 0 HSPG2 HG03732 nsv5612356 1 22176303 22176303 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062700 M 35 1 0 HSPG2 HG01596 nsv6327359 1 22176580 22177305 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057481 M 19652 0 1 HSPG2 nsv5621749 1 22183110 22183110 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062701 M 35 1 0 HSPG2 HG02587 nsv1110996 1 22183117 22194430 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961425 M 2 1 0 HSPG2 KWS1 nsv460784 1 22184552 22216279 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537294 M 1557 0 1 HSPG2 HGDP00857 nsv545742 1 22184552 22216279 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173796 M 17421 0 1 HSPG2 HGDP00857 esv1003020 1 22190533 22212334 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564134 M 3 0 1 HSPG2 HuRef nsv4039583 1 22192459 22192566 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966083 M 10847 1 0 HSPG2 nsv5415825 1 22192459 22192566 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902293 M 3202 1 0 HSPG2 nsv5621465 1 22194172 22194172 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062706 M 35 1 0 HSPG2 HG03732 nsv954903 1 22194601 22264800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3003152 M 1 0 1 HSPG2 BILGI_BIOE nsv6334319 1 22196169 22198080 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057497 M 19652 0 1 HSPG2 nsv545743 1 22199175 22206942 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711292 M 17421 0 1 HSPG2 nsv4049892 1 22206876 22362043 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966084 M 10847 1 0 CELA3A,CELA3B,HSPG2,LINC00339 nsv5875607 1 22216021 22216244 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363279 M 914 0 1 HSPG2 esv2660403 1 22216021 22216245 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6386397,essv6232903,essv6440494,essv6146084,essv6083961,essv6166630 M 1151 0 6 HSPG2 NA18517,NA18907,NA18912,NA19099,NA19382,NA19703 nsv6316154 1 22216021 22216245 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058075 M 19652 0 1 HSPG2 nsv4518113 1 22216023 22216245 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849340 M 10847 0 1 HSPG2 nsv5433582 1 22216023 22216245 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902294 M 3202 0 1 HSPG2 esv2758927 1 22222521 22412857 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2757727 M 270 0 1 CDC42,CELA3A,CELA3B,HSPG2,LINC00339 NA12057 nsv4533425 1 22227375 22227376 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030008 M 10847 1 0 HSPG2 nsv5730012 1 22227394 22227394 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17241087 M 3202 1 0 HSPG2 nsv4051285 1 22231827 22231928 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966085 M 10847 1 0 HSPG2 nsv5429355 1 22231827 22231928 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902295 M 3202 1 0 HSPG2 nsv945815 1 22233572 22236505 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1764206,nssv1764129,nssv1764130,nssv1764205,nssv1764124,nssv1764140,nssv1764123,nssv1764201,nssv1764122,nssv1764144,nssv1764131,nssv1764207,nssv1764164,nssv1764143,nssv1764186,nssv1764135,nssv1764187,nssv1764141,nssv1764193,nssv1764203,nssv1764192,nssv1764133,nssv1764165,nssv1764154,nssv1764191,nssv1764155,nssv1764209,nssv1764156,nssv1764179,nssv1764128,nssv1764159,nssv1764198,nssv1764162,nssv1764153,nssv1764210,nssv1764202,nssv1764211,nssv1764145,nssv1764190,nssv1764132,nssv1764160,nssv1764146,nssv1764173,nssv1764142,nssv1764180,nssv1764150,nssv1764170,nssv1764121,nssv1764197,nssv1764147,nssv1764196,nssv1764136,nssv1764161,nssv1764126,nssv1764167,nssv1764134,nssv1764163,nssv1764138,nssv1764213,nssv1764199,nssv1764175,nssv1764151,nssv1764178,nssv1764149,nssv1764212,nssv1764127,nssv1764177,nssv1764125,nssv1764172,nssv1764137,nssv1764188,nssv1764204,nssv1764174,nssv1764158,nssv1764168,nssv1764148,nssv1764215,nssv1764152,nssv1764176,nssv1764139,nssv1764185,nssv1764200,nssv1764189,nssv1764157,nssv1764214,nssv1764184,nssv1764208,nssv1764169,nssv1764183,nssv1764166,nssv1764217,nssv1764216,nssv1764182,nssv1764171,nssv1764194,nssv1764195,nssv1764181 M 97 10 0 HSPG2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv36n166 1 22234436 22319302 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4033213,nsv4041648 M 10847 2 0 CELA3B,HSPG2 nsv6323321 1 22234436 22319302 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202030 M 19652 1 0 CELA3B,HSPG2 nsv834413 1 22235213 22420174 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444018,nssv1444007,nssv1444029,nssv1444040 M 95 0 4 CDC42,CELA3A,CELA3B,HSPG2,LINC00339 esv3556121 1 22242548 22244734 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9754868 M 767 0 1 HSPG2 nsv6245572 1 22248896 22248896 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17838636 M 1021 1 0 HSPG2 nsv460795 1 22249589 22284495 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537305 M 1557 0 1 HSPG2 NINDS_74 nsv545744 1 22249589 22284495 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173797 M 17421 0 1 HSPG2 NINDS_74 nsv1143441 1 22263500 22264100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980641 M 2 0 1 HSPG2 KWS1 nsv1076248 1 22263599 22264100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768218 M 1 0 1 HSPG2 KWP1 nsv4037449 1 22267580 22280662 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849341 M 10847 0 1 "" esv3585455 1 22272636 22276725 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9888889,essv9888886,essv9888891,essv9888885,essv9888892,essv9888887,essv9888890,essv9888888 M 2504 0 8 "" HG01105,HG01369,HG02983,HG03072,HG03074,HG03258,HG03279,HG03484 nsv5868755 1 22272851 22276879 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369441 M 914 0 1 "" nsv6328245 1 22272935 22276797 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058149 M 19652 0 1 "" nsv5427142 1 22272939 22276794 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902296 M 3202 0 1 "" nsv5829442 1 22273057 22276656 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464155 M 914 0 0 "" esv3663858 1 22280389 22280389 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486676 M 20 1 0 "" esv2745097 1 22286019 22286565 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6892324,essv6703867,essv6829008,essv6910056,essv6692777,essv6902545,essv6916784,essv6710593,essv6954756,essv6668964,essv6769527,essv6824988,essv6780880,essv6722013,essv6929062,essv6689269,essv6917442,essv6941792,essv6921735,essv6946506,essv6853249,essv6847033,essv6972356,essv6937689,essv6961569,essv6876943,essv6950567,essv6843893 M 96 0 28 "" SSM003,SSM012,SSM013,SSM015,SSM017,SSM018,SSM020,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM029,SSM031,SSM036,SSM037,SSM040,SSM042,SSM045,SSM065,SSM068,SSM080,SSM081,SSM085,SSM086,SSM087,SSM098 esv2745108 1 22286320 22286496 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6829008,essv6954756,essv6853249,essv6972356,essv6961569 M 96 0 5 "" SSM026,SSM027,SSM029,SSM081,SSM087 nsv5567647 1 22286329 22286378 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062728 M 35 0 1 "" HG00731 nsv5871218 1 22286329 22286378 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369205 M 914 0 1 "" nsv3938592 1 22286329 22286379 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181131 M 1 0 1 "" HG002 nsv4449388 1 22286329 22286379 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15758467 M 1 0 1 "" nsv3174140 1 22286330 22286380 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374369,nssv14445297,nssv14417946 M 9 0 3 "" HG00514,HG00733,NA19240 nsv2801544 1 22286331 22286380 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13709312 M 2 0 1 "" nsv3322232 1 22286331 22286380 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14795115,nssv14797632,nssv14803287,nssv14795408,nssv14795295,nssv14800631,nssv14793256,nssv14798477,nssv14804125,nssv14810783 M 14 0 10 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG02818,NA12878,NA19240 nsv5868677 1 22286340 22287543 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356929 M 914 0 1 "" nsv4735836 1 22286350 22286402 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16261953 M 25 0 1 "" nsv5982577 1 22286380 22286433 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530002 M 405 0 1 "" esv1468707 1 22286406 22286456 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3697282 M 2 0 1 "" HuRef nsv6538217 1 22292123 22293692 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248666 M 19652 0 0 "" nsv6328927 1 22292234 22296161 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057831 M 19652 0 1 "" nsv945816 1 22292949 22336716 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1764302,nssv1764280,nssv1764241,nssv1764314,nssv1764222,nssv1764292,nssv1764304,nssv1764312,nssv1764297,nssv1764268,nssv1764299,nssv1764282,nssv1764301,nssv1764258,nssv1764253,nssv1764286,nssv1764230,nssv1764291,nssv1764242,nssv1764263,nssv1764247,nssv1764313,nssv1764238,nssv1764305,nssv1764249,nssv1764279,nssv1764295,nssv1764271,nssv1764239,nssv1764284,nssv1764245,nssv1764308,nssv1764225,nssv1764261,nssv1764251,nssv1764278,nssv1764248,nssv1764290,nssv1764226,nssv1764311,nssv1764296,nssv1764306,nssv1764223,nssv1764283,nssv1764218,nssv1764276,nssv1764234,nssv1764266,nssv1764252,nssv1764256,nssv1764244,nssv1764307,nssv1764240,nssv1764294,nssv1764298,nssv1764262,nssv1764250,nssv1764267,nssv1764235,nssv1764259,nssv1764246,nssv1764257,nssv1764237,nssv1764289,nssv1764243,nssv1764264,nssv1764300,nssv1764309,nssv1764255,nssv1764274,nssv1764233,nssv1764281,nssv1764224,nssv1764270,nssv1764232,nssv1764285,nssv1764254,nssv1764275,nssv1764229,nssv1764277,nssv1764236,nssv1764287,nssv1764231,nssv1764272,nssv1764227,nssv1764260,nssv1764221,nssv1764269,nssv1764220,nssv1764310,nssv1764219,nssv1764288,nssv1764228,nssv1764273,nssv1764303,nssv1764293,nssv1764265 M 97 10 0 CELA3A,CELA3B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3892859 1 22293056 22328279 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25800641,essv25781066,essv25786412,essv25786265 M 3017 0 4 CELA3A,CELA3B esv2745119 1 22293817 22319550 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6883259,essv6868719,essv6889013,essv6692778,essv6718169,essv6824989,essv6906102,essv6793297,essv6829010,essv6780881,essv6954757,essv6917443,essv6733490,essv6669321 M 96 0 14 CELA3B SSM005,SSM014,SSM017,SSM026,SSM037,SSM044,SSM049,SSM068,SSM071,SSM080,SSM081,SSM090,SSM095,SSM097 esv3556232 1 22293837 22322500 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9754979 M 767 0 1 CELA3B nsv5571711 1 22293847 22306149 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062730 M 35 0 1 CELA3B HG01114 esv24116 1 22293885 22342339 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv9848,esv12969 M 40 0 3 CELA3A,CELA3B NA18861,NA18907,NA19257 nsv5878618 1 22293921 22319590 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364130 M 914 0 1 CELA3B dgv113n223 1 22293966 22321011 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6318206,nsv6322925 M 19652 0 2 CELA3B nsv1075313 1 22293999 22294400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771814 M 1 0 1 "" KWP1 nsv5829361 1 22294422 22305699 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469081,nssv17453888 M 914 0 0 CELA3B nsv6138897 1 22294493 22319656 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902297 M 3202 1 0 CELA3B nsv6334414 1 22295221 22321017 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202033 M 19652 1 0 CELA3B esv3892970 1 22296307 22308807 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25796539 M 3017 0 1 CELA3B nsv5583738 1 22296423 22322098 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062731 M 35 0 1 CELA3B HG03065 nsv4051336 1 22297000 22321000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966088 M 10847 1 0 CELA3B nsv5581627 1 22298198 22298925 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062732 M 35 0 1 "" NA19983 nsv5877634 1 22298525 22298817 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359305 M 914 0 1 "" nsv436921 1 22300173 22317969 CNV insertion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465918 M 2 1 0 CELA3B NA18505 nsv5982706 1 22300693 22300753 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518944 M 405 0 1 "" nsv5880250 1 22300695 22300752 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361172 M 914 0 1 "" nsv4032522 1 22300695 22300753 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849342 M 10847 0 1 "" nsv5982707 1 22302374 22302665 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536821 M 405 0 1 "" dgv16e214 1 22302473 22332441 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing esv3585459,esv3585456 M 2504 0 147 CELA3A,CELA3B HG00097,HG00102,HG00123,HG00154,HG00180,HG00235,HG00253,HG00362,HG00364,HG00406,HG00421,HG00443,HG00479,HG00625,HG00701,HG01075,HG01107,HG01140,HG01176,HG01241,HG01311,HG01506,HG01515,HG01608,HG01675,HG01678,HG01779,HG01781,HG01815,HG01853,HG01866,HG01947,HG01958,HG01971,HG01989,HG02010,HG02031,HG02090,HG02143,HG02224,HG02255,HG02334,HG02356,HG02390,HG02407,HG02471,HG02484,HG02508,HG02676,HG02703,HG02721,HG02799,HG02810,HG02819,HG02854,HG02944,HG02946,HG02977,HG03021,HG03074,HG03096,HG03097,HG03103,HG03105,HG03139,HG03163,HG03198,HG03199,HG03370,HG03382,HG03410,HG03455,HG03460,HG03464,HG03470,HG03499,HG03571,HG03708,HG03789,HG03821,HG03882,HG04173,NA06986,NA11933,NA12046,NA12383,NA18498,NA18522,NA18545,NA18570,NA18615,NA18616,NA18617,NA18645,NA18647,NA18861,NA18876,NA18907,NA18910,NA18923,NA18948,NA18949,NA18977,NA18979,NA18991,NA18994,NA19003,NA19007,NA19012,NA19023,NA19070,NA19085,NA19086,NA19153,NA19184,NA19206,NA19248,NA19257,NA19315,NA19317,NA19319,NA19331,NA19334,NA19372,NA19440,NA19445,NA19446,NA19452,NA19457,NA19462,NA19467,NA19473,NA19750,NA19834,NA19922,NA20126,NA20282,NA20334,NA20412,NA20774,NA20806,NA20818,NA20891,NA20900,NA20910,NA21107,NA21120 nsv4050204 1 22302719 22327334 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849343 M 10847 0 1 CELA3B esv3585457 1 22303020 22322238 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9888906,essv9888902,essv9888905,essv9888904,essv9888903 M 2504 0 5 CELA3B HG00097,HG00443,HG01927,NA19085,NA21107 esv3585458 1 22303020 22322238 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9888915,essv9888912,essv9888914,essv9888910,essv9888913,essv9888911,essv9888907,essv9888908,essv9888909 M 2504 9 0 CELA3B HG00473,HG00553,HG01369,HG01395,HG01626,HG01953,HG02983,HG03802,NA19197 nsv6323511 1 22303394 22328030 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202034 M 19652 1 0 CELA3B esv2672264 1 22303664 22328299 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5960075,essv6205107,essv5760176 M 1151 0 3 CELA3A,CELA3B HG00254,HG00360,HG01137 nsv4518077 1 22304499 22341000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966090 M 10847 1 0 CELA3A,CELA3B nsv6331414 1 22305027 22329923 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057841 M 19652 0 1 CELA3A,CELA3B nsv5420965 1 22305656 22331656 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902300 M 3202 0 1 CELA3A,CELA3B nsv5829443 1 22306834 22311666 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451024,nssv17461594 M 914 0 0 CELA3B nsv4032665 1 22307000 22315800 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966091 M 10847 1 0 CELA3B dgv11e201 1 22307055 22332298 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2741931,esv2745130,esv2741303,esv2741534 M 96 0 83 CELA3A,CELA3B SSM002,SSM004,SSM006,SSM007,SSM008,SSM009,SSM011,SSM012,SSM013,SSM014,SSM015,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM028,SSM029,SSM031,SSM032,SSM033,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM049,SSM050,SSM053,SSM055,SSM056,SSM057,SSM058,SSM061,SSM062,SSM063,SSM064,SSM065,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM080,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM095,SSM097,SSM098,SSM099,SSM100 esv7729 1 22307615 22332431 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30170 M 1 0 0 CELA3A,CELA3B dgv32n209 1 22307700 22335190 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5872010,nsv5875729 M 914 0 2 CELA3A,CELA3B nsv5982578 1 22308116 22332850 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17532971 M 405 1 0 CELA3A,CELA3B nsv4038786 1 22308700 22374000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849344 M 10847 0 1 CELA3A,CELA3B,LINC00339 dgv114n223 1 22308903 22339893 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6332784,nsv6331063,nsv6331107,nsv6331509,nsv6333976 M 19652 5 0 CELA3A,CELA3B nsv9657 1 22309526 22343331 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv18083,nssv12446 M 31 0 2 CELA3A,CELA3B NA18972,NA19007 nsv5433283 1 22309574 22335156 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902301 M 3202 1 0 CELA3A,CELA3B nsv6322494 1 22309613 22312117 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057844 M 19652 0 1 CELA3B esv2760299 1 22309874 22338125 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7008188,essv7008522,essv7008077,essv7008299,essv7008633,essv7008410 M 1109 0 6 CELA3A,CELA3B SW_0086,SW_0148,SW_0285,SW_0883,SW_1031,SW_1125 esv2764236 1 22309874 22358265 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005191,essv7005186,essv7005200,essv7005183,essv7005195,essv7005184,essv7005193,essv7005203,essv7005185,essv7005192,essv7005204,essv7005199,essv7005196,essv7005197,essv7005202,essv7005187,essv7005194,essv7005198 M 1109 2 16 CELA3A,CELA3B,LINC00339 RW_0020,RW_0028,RW_0071,RW_0084,RW_0088,RW_0129,RW_0147,RW_0148,RW_0180,RW_0197,RW_0331,RW_0505,RW_0558,RW_0575,RW_0577,RW_0605,RW_0621,RW_0666 esv3556344 1 22310053 22338589 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9755091 M 767 0 1 CELA3A,CELA3B dgv115n223 1 22311094 22336593 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6322889,nsv6321754 M 19652 0 2 CELA3A,CELA3B nsv3169809 1 22311908 22338125 OTHER complex Fu_et_al_2018 29476164 SNP array nssv14242713,nssv14244239,nssv14250950,nssv14246596 M 93 2 2 CELA3A,CELA3B NGO_34,NGO_43,PML_2,SNI_13 nsv1154729 1 22311908 22342389 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4007070,nssv4007071,nssv4007072 M 131 0 3 CELA3A,CELA3B nsv1160262 1 22311908 22342389 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026190,nssv4026201 M 369 0 2 CELA3A,CELA3B nsv5610648 1 22312705 22312705 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062734 M 35 1 0 CELA3B HG01505 nsv4041217 1 22313218 22336672 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849345 M 10847 0 1 CELA3A,CELA3B dgv116n223 1 22313694 22320293 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6334126,nsv6318415 M 19652 2 0 CELA3B dgv117n223 1 22314094 22342393 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6315820,nsv6319261,nsv6319212,nsv6330928 M 19652 0 4 CELA3A,CELA3B nsv6323483 1 22314694 22315593 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202040 M 19652 1 0 CELA3B esv3682678 1 22315462 22315517 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467487 M 20 0 1 CELA3B dgv27n67 1 22316058 22344104 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv821954,nsv821965 M 31 0 2 CELA3A NA18570,NA18972 nsv5828903 1 22316147 22319591 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451751,nssv17463380 M 914 0 0 "" esv3585460 1 22316148 22334511 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889079,essv9889210,essv9889077,essv9889202,essv9889082,essv9889198,essv9889085,essv9889170,essv9889075,essv9889187,essv9889086,essv9889178,essv9889078,essv9889194,essv9889087,essv9889199,essv9889081,essv9889195,essv9889084,essv9889169,essv9889080,essv9889175,essv9889076,essv9889181,essv9889083,essv9889180,essv9889088,essv9889174,essv9889071,essv9889104,essv9889209,essv9889073,essv9889099,essv9889193,essv9889066,essv9889105,essv9889203,essv9889072,essv9889117,essv9889191,essv9889067,essv9889108,essv9889208,essv9889070,essv9889112,essv9889173,essv9889063,essv9889093,essv9889205,essv9889068,essv9889106,essv9889200,essv9889064,essv9889100,essv9889196,essv9889069,essv9889111,essv9889177,essv9889065,essv9889109,essv9889184,essv9889074,essv9889114,essv9889171,essv9889116,essv9889168,essv9889095,essv9889167,essv9889113,essv9889190,essv9889102,essv9889201,essv9889103,essv9889192,essv9889089,essv9889186,essv9889091,essv9889204,essv9889098,essv9889197,essv9889101,essv9889179,essv9889115,essv9889183,essv9889097,essv9889185,essv9889092,essv9889182,essv9889107,essv9889172,essv9889094,essv9889207,essv9889110,essv9889206,essv9889096,essv9889188,essv9889090,essv9889176,essv9889155,essv9889189,essv9889164,essv9889121,essv9889157,essv9889133,essv9889156,essv9889124,essv9889160,essv9889144,essv9889163,essv9889123,essv9889159,essv9889139,essv9889162,essv9889130,essv9889165,essv9889119,essv9889166,essv9889151,essv9889158,essv9889120,essv9889161,essv9889142,essv9889153,essv9889140,essv9889154,essv9889127,essv9889235,essv9889152,essv9889236,essv9889149,essv9889227,essv9889122,essv9889221,essv9889147,essv9889214,essv9889128,essv9889231,essv9889129,essv9889233,essv9889143,essv9889211,essv9889145,essv9889222,essv9889134,essv9889223,essv9889141,essv9889213,essv9889138,essv9889234,essv9889135,essv9889212,essv9889125,essv9889215,essv9889146,essv9889229,essv9889150,essv9889216,essv9889118,essv9889232,essv9889132,essv9889230,essv9889131,essv9889220,essv9889126,essv9889219,essv9889148,essv9889217,essv9889136,essv9889228,essv9889137,essv9889218,essv9889225,essv9889224,essv9889237,essv9889226 M 2504 0 175 CELA3A HG00097,HG00102,HG00123,HG00154,HG00180,HG00235,HG00253,HG00362,HG00364,HG00406,HG00421,HG00443,HG00479,HG00608,HG00625,HG00701,HG01075,HG01107,HG01140,HG01176,HG01241,HG01311,HG01435,HG01506,HG01515,HG01608,HG01675,HG01678,HG01779,HG01781,HG01786,HG01800,HG01815,HG01853,HG01860,HG01866,HG01867,HG01947,HG01958,HG01971,HG01989,HG02010,HG02012,HG02078,HG02090,HG02143,HG02224,HG02255,HG02304,HG02334,HG02356,HG02390,HG02407,HG02442,HG02471,HG02484,HG02508,HG02676,HG02687,HG02703,HG02721,HG02799,HG02810,HG02817,HG02819,HG02854,HG02944,HG02946,HG02952,HG02977,HG03021,HG03074,HG03077,HG03096,HG03097,HG03100,HG03103,HG03105,HG03139,HG03163,HG03175,HG03198,HG03199,HG03370,HG03382,HG03410,HG03455,HG03460,HG03464,HG03470,HG03499,HG03571,HG03585,HG03708,HG03789,HG03821,HG03882,HG03913,HG04153,HG04173,NA06986,NA11933,NA12046,NA12383,NA18498,NA18522,NA18531,NA18570,NA18615,NA18616,NA18617,NA18628,NA18645,NA18647,NA18861,NA18876,NA18907,NA18910,NA18923,NA18948,NA18949,NA18970,NA18972,NA18979,NA18981,NA18991,NA19003,NA19005,NA19007,NA19012,NA19023,NA19036,NA19043,NA19070,NA19085,NA19086,NA19153,NA19171,NA19184,NA19206,NA19248,NA19257,NA19315,NA19317,NA19319,NA19331,NA19334,NA19372,NA19397,NA19440,NA19445,NA19446,NA19452,NA19457,NA19462,NA19467,NA19473,NA19750,NA19834,NA19913,NA19922,NA20126,NA20282,NA20334,NA20412,NA20540,NA20544,NA20774,NA20806,NA20818,NA20891,NA20900,NA20910,NA21107,NA21120 esv3585461 1 22316148 22334511 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889241,essv9889254,essv9889251,essv9889238,essv9889255,essv9889246,essv9889240,essv9889244,essv9889239,essv9889242,essv9889252,essv9889248,essv9889253,essv9889250,essv9889243,essv9889247,essv9889249,essv9889245 M 2504 18 0 CELA3A HG00473,HG01369,HG01626,HG02339,HG02769,HG02938,HG02973,HG02983,HG03118,HG03121,HG03169,HG03265,HG03300,HG03304,HG03802,NA18499,NA20281,NA20866 nsv6323838 1 22317094 22320293 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202043 M 19652 1 0 "" esv3577781 1 22318206 22328696 CNV loss Uddin_et_al_2014 25503493 SNP array essv9818866 M 873 0 1 CELA3A 400542EG nsv1124206 1 22318958 22342117 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975513 M 2 0 1 CELA3A KWS1 dgv118n223 1 22318994 22325893 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6328326,nsv6318994 M 19652 0 2 "" nsv1154730 1 22319001 22338125 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4007073 M 131 0 1 CELA3A dgv8n111 1 22319001 22342389 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nsv1160377,nsv1160263 M 369 0 5 CELA3A nsv5982709 1 22319507 22332854 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518447 M 405 0 1 CELA3A nsv5429801 1 22319656 22331656 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902304 M 3202 1 0 CELA3A nsv6330975 1 22319816 22321356 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057857 M 19652 0 1 "" nsv5419622 1 22319832 22321342 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902305 M 3202 0 1 "" nsv6334508 1 22319926 22323786 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057858 M 19652 0 1 "" nsv5829200 1 22320042 22329213 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456045,nssv17469032 M 914 0 0 CELA3A nsv6328317 1 22320494 22336493 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057859 M 19652 0 1 CELA3A nsv441686 1 22320511 22337243 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1656606,nssv1656614,nssv1656612,nssv1656618,nssv1656620,nssv1656616,nssv1656605,nssv1656602,nssv1656603,nssv1656615,nssv1656610,nssv1656600,nssv1656613,nssv1656604,nssv1656611,nssv1656607,nssv1656619,nssv1656609,nssv1656621,nssv1656617,nssv1656601,nssv1656608 M 270 0 22 CELA3A NA12057,NA18522,NA18529,NA18545,NA18570,NA18861,NA18863,NA18948,NA18949,NA18970,NA18972,NA18981,NA18991,NA18994,NA19003,NA19005,NA19007,NA19012,NA19153,NA19154,NA19171,NA19206 esv2422105 1 22320515 22330539 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5150276,essv5051720,essv5027369,essv5153959,essv5062103,essv5073331,essv5060991,essv5082060,essv5094720,essv5008724,essv5127647,essv5010298,essv5057717,essv5004304,essv5013797,essv5021959,essv5144788,essv5114201,essv5092401,essv5137057,essv5052611,essv5122426,essv5136010,essv5089331,essv5012250,essv5039080,essv5013711,essv5072556,essv5116678,essv5079332,essv5057648,essv5093683,essv5048433,essv5130100,essv5014076,essv5069364,essv5048403,essv5012703,essv5079181,essv5107178,essv5079757,essv5131129,essv5127796,essv5089636,essv5068701,essv5139034,essv5092467,essv5040804,essv5152666,essv5087547,essv5106182,essv5118566,essv5049931,essv5086958,essv5098330,essv5005963,essv5035309,essv5010859,essv5090968,essv5004960,essv5097180,essv5126066,essv5122800,essv5135997,essv5069649,essv5160782,essv5101041,essv5047066,essv5082807,essv5030225,essv5156755,essv5160939,essv5122038,essv5099755,essv5098002,essv5092266,essv5048896,essv5051602,essv5031926,essv5120929,essv5140524,essv5066006,essv5060599,essv5139157,essv5009703,essv5047107,essv5025821,essv5040269,essv5155528,essv5013849,essv5048628,essv5052234,essv5151805,essv5029182,essv5099187,essv5087741,essv5160488,essv5109676,essv5039091,essv5026382,essv5117747,essv5067557,essv5007855,essv5112361 M 1184 0 104 CELA3A NA06986,NA10852,NA12057,NA17970,NA17976,NA17979,NA17998,NA18108,NA18109,NA18135,NA18146,NA18147,NA18161,NA18498,NA18529,NA18545,NA18570,NA18615,NA18616,NA18617,NA18628,NA18645,NA18647,NA18861,NA18863,NA18910,NA18911,NA18923,NA18925,NA18948,NA18949,NA18970,NA18972,NA18977,NA18979,NA18981,NA18991,NA18994,NA19005,NA19007,NA19070,NA19085,NA19086,NA19153,NA19154,NA19171,NA19184,NA19186,NA19248,NA19249,NA19257,NA19258,NA19313,NA19315,NA19317,NA19319,NA19334,NA19372,NA19396,NA19397,NA19440,NA19445,NA19446,NA19452,NA19457,NA19462,NA19467,NA19473,NA19750,NA19834,NA20126,NA20128,NA20282,NA20284,NA20333,NA20334,NA20335,NA20336,NA20540,NA20544,NA20774,NA20806,NA20818,NA20891,NA20900,NA20909,NA20910,NA21107,NA21295,NA21333,NA21378,NA21390,NA21424,NA21473,NA21520,NA21597,NA21599,NA21601,NA21613,NA21614,NA21717,NA21733,NA21739,NA21776 nsv6545531 1 22321397 22321712 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248672 M 19652 0 0 "" nsv6321291 1 22321794 22340193 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202046 M 19652 1 0 CELA3A nsv4537370 1 22321934 22321935 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030026 M 10847 1 0 "" nsv5609329 1 22323863 22323863 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063368 M 35 1 0 "" NA20847 nsv6319052 1 22325682 22389583 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202047 M 19652 1 0 CDC42,CELA3A,LINC00339 nsv6323289 1 22325694 22337693 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202048 M 19652 1 0 CELA3A nsv5829201 1 22326728 22333470 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466416,nssv17463465 M 914 0 0 CELA3A nsv6042065 1 22327297 22327297 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527771 M 405 1 0 "" nsv6332742 1 22327297 22327877 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057867 M 19652 0 1 "" nsv528664 1 22328279 22389327 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv705302 M 2026 1 0 CDC42,CELA3A,LINC00339 nsv6333729 1 22329394 22330993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057869 M 19652 0 1 CELA3A nsv5829202 1 22330573 22336840 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450706,nssv17467177 M 914 0 0 CELA3A nsv4042958 1 22331000 22362000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966092 M 10847 1 0 CELA3A,LINC00339 nsv6330707 1 22332494 22335293 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058431 M 19652 0 1 CELA3A nsv5615909 1 22332862 22332862 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063371 M 35 1 0 CELA3A HG03732 nsv6051518 1 22332862 22332862 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530797 M 405 1 0 CELA3A nsv5880736 1 22333019 22333214 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351549 M 914 0 1 CELA3A nsv5620873 1 22334326 22334326 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063372 M 35 1 0 CELA3A HG03732 nsv6057343 1 22334326 22334326 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534251 M 405 1 0 CELA3A esv3663870 1 22334645 22334645 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486687 M 20 1 0 CELA3A nsv5567947 1 22335576 22335880 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063373 M 35 0 1 CELA3A HG03732 nsv5982582 1 22335576 22335881 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534166 M 405 0 1 CELA3A nsv4044599 1 22337036 22342440 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849347 M 10847 0 1 CELA3A nsv5681367 1 22337440 22337440 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17184135 M 3202 1 0 CELA3A nsv5406462 1 22337440 22337491 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902306 M 3202 1 0 CELA3A nsv5432687 1 22337493 22342493 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902307 M 3202 0 1 CELA3A nsv1076255 1 22337799 22339200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765810 M 1 0 1 CELA3A KWP1 nsv3322083 1 22338604 22338662 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472607 M 14 0 1 CELA3A CHM1 nsv5982801 1 22338633 22338687 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525687 M 405 0 1 CELA3A nsv6326176 1 22340842 22359926 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202051 M 19652 1 0 LINC00339 nsv5873248 1 22342393 22343467 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17364415 M 914 1 0 "" nsv5420288 1 22344806 22346364 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902308 M 3202 0 1 "" nsv545745 1 22345093 22390072 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711293 M 17421 0 1 CDC42,LINC00339 nsv6334708 1 22346294 22348993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058442 M 19652 0 1 "" nsv6548549 1 22346710 22348302 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249270 M 19652 0 0 "" nsv6321020 1 22346879 22361651 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202054 M 19652 1 0 LINC00339 esv3663876 1 22348462 22348462 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486692 M 20 1 0 "" nsv6321594 1 22351718 22355321 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058448 M 19652 0 1 LINC00339 nsv5977796 1 22355737 22438726 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17363825 M 914 0 0 CDC42,LINC00339 esv3663881 1 22356112 22356112 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486697 M 20 1 0 LINC00339 nsv6316057 1 22358551 22358948 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058453 M 19652 0 1 "" nsv5423244 1 22358575 22358955 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902309 M 3202 0 1 "" nsv6541674 1 22358743 22359854 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249273 M 19652 0 0 "" nsv1144360 1 22360813 22360869 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995113 M 2 0 1 "" KWS1 esv3663888 1 22360911 22360911 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486702 M 20 1 0 "" nsv5880252 1 22361351 22367471 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351326 M 914 0 1 "" nsv5416122 1 22361493 22367656 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902310 M 3202 0 1 "" nsv6324936 1 22361594 22362993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058456 M 19652 0 1 "" nsv5829447 1 22361870 22365318 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457794 M 914 0 0 "" esv3585462 1 22362542 22367512 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889256 M 2504 0 1 "" NA18749 nsv5829204 1 22363220 22365018 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469109 M 914 0 0 "" nsv5829364 1 22363869 22367349 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463215 M 914 0 0 "" nsv5829448 1 22364319 22365318 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455290,nssv17463697 M 914 0 0 "" nsv6553037 1 22367576 22368837 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249274 M 19652 0 0 "" nsv5874167 1 22369030 22371451 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356241 M 914 0 1 "" nsv6328377 1 22374332 22375224 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058462 M 19652 0 1 "" nsv1133822 1 22377572 22377638 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970146 M 2 0 1 "" KWS2 nsv954904 1 22380301 22434000 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv3003153 M 1 1 0 CDC42 BILGI_BIOE nsv5982644 1 22381398 22381460 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518608 M 405 0 1 CDC42 nsv4052199 1 22381845 22382388 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849348 M 10847 0 1 CDC42 nsv5689791 1 22382379 22382379 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17183467 M 3202 1 0 CDC42 nsv545746 1 22387222 22390697 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711294 M 17421 0 1 CDC42 nsv6543744 1 22387730 22388088 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249278 M 19652 0 0 CDC42 nsv4039300 1 22390359 22392338 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849349 M 10847 0 1 CDC42 nsv4039008 1 22392000 22433000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966093 M 10847 1 0 CDC42 nsv5982645 1 22397149 22397727 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530907 M 405 0 1 CDC42 nsv5619349 1 22397252 22397252 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063389 M 35 1 0 CDC42 NA19983 nsv6537751 1 22399839 22400496 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249280 M 19652 0 0 CDC42 nsv945817 1 22404603 22405271 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763831,nssv1763883,nssv1764320,nssv1763886,nssv1763845,nssv1763862,nssv1764315,nssv1763860,nssv1763898,nssv1763873,nssv1764328,nssv1763905,nssv1763841,nssv1763880,nssv1763838,nssv1763871,nssv1763889,nssv1763908,nssv1763830,nssv1763870,nssv1763896,nssv1763851,nssv1763891,nssv1763907,nssv1763828,nssv1763876,nssv1763892,nssv1763906,nssv1764322,nssv1763900,nssv1763840,nssv1763877,nssv1763839,nssv1763901,nssv1763835,nssv1763867,nssv1764327,nssv1763902,nssv1764323,nssv1763903,nssv1763849,nssv1763857,nssv1764326,nssv1763872,nssv1763848,nssv1763864,nssv1763843,nssv1763878,nssv1763842,nssv1763869,nssv1763834,nssv1763866,nssv1763895,nssv1763875,nssv1763890,nssv1763885,nssv1763846,nssv1763882,nssv1763893,nssv1763863,nssv1763837,nssv1763853,nssv1764319,nssv1763868,nssv1763832,nssv1763856,nssv1763836,nssv1763881,nssv1763844,nssv1763904,nssv1763829,nssv1763858,nssv1764321,nssv1763887,nssv1764330,nssv1763850,nssv1763894,nssv1763899,nssv1763847,nssv1763859,nssv1764329,nssv1763888,nssv1763833,nssv1763852,nssv1763897,nssv1763865,nssv1764325,nssv1763854,nssv1764318,nssv1763861,nssv1764324,nssv1763884,nssv1764316,nssv1763879,nssv1764317,nssv1763874,nssv1763855 M 97 10 0 CDC42 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4533167 1 22404816 22404817 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030037 M 10847 1 0 CDC42 nsv4042151 1 22407831 22408566 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849350 M 10847 0 1 CDC42 nsv4537625 1 22408566 22408567 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030048 M 10847 1 0 CDC42 nsv5885671 1 22408566 22408641 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17361684 M 914 1 0 CDC42 nsv4517327 1 22408566 22408646 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966094 M 10847 1 0 CDC42 nsv6051485 1 22408571 22408571 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531236 M 405 1 0 CDC42 nsv4536479 1 22408646 22408647 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030059 M 10847 1 0 CDC42 nsv4460347 1 22412338 22412339 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030065 M 10847 1 0 CDC42 nsv945818 1 22412771 22413883 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1763992,nssv1763972,nssv1763920,nssv1763963,nssv1763943,nssv1763996,nssv1763938,nssv1763956,nssv1763995,nssv1763980,nssv1763930,nssv1763984,nssv1763909,nssv1763971,nssv1763987,nssv1764001,nssv1763932,nssv1763959,nssv1763931,nssv1763965,nssv1763989,nssv1763949,nssv1763986,nssv1763952,nssv1763991,nssv1763962,nssv1763941,nssv1763953,nssv1763942,nssv1763967,nssv1763925,nssv1764004,nssv1763923,nssv1763977,nssv1763944,nssv1763981,nssv1763916,nssv1763982,nssv1763914,nssv1763948,nssv1763935,nssv1764000,nssv1763937,nssv1763968,nssv1763924,nssv1763976,nssv1763946,nssv1764005,nssv1763990,nssv1763979,nssv1763940,nssv1763964,nssv1763917,nssv1763983,nssv1763945,nssv1763957,nssv1763926,nssv1763970,nssv1763936,nssv1763998,nssv1763993,nssv1763974,nssv1763988,nssv1763955,nssv1763913,nssv1764003,nssv1763921,nssv1763951,nssv1763933,nssv1763966,nssv1763934,nssv1763997,nssv1763922,nssv1764002,nssv1763927,nssv1763969,nssv1763915,nssv1763973,nssv1763929,nssv1763999,nssv1763939,nssv1763954,nssv1763928,nssv1763975,nssv1763994,nssv1763958,nssv1763919,nssv1763985,nssv1763912,nssv1763947,nssv1763918,nssv1763950,nssv1763911,nssv1763961,nssv1763910,nssv1763978,nssv1763960 M 97 10 0 CDC42 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4534225 1 22414384 22414385 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030075 M 10847 1 0 CDC42 nsv6322046 1 22415840 22416044 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058483 M 19652 0 1 CDC42 nsv5413920 1 22415842 22416044 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902313 M 3202 0 1 CDC42 nsv6076 1 22416299 22450404 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2871 M 9 1 0 CDC42,WNT4 NA18555 nsv945819 1 22417576 22419286 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1764014,nssv1764102,nssv1764030,nssv1764058,nssv1764031,nssv1764057,nssv1764028,nssv1764062,nssv1764027,nssv1764075,nssv1764092,nssv1764047,nssv1764024,nssv1764055,nssv1764040,nssv1764077,nssv1764038,nssv1764063,nssv1764017,nssv1764081,nssv1764083,nssv1764064,nssv1764023,nssv1764053,nssv1764021,nssv1764069,nssv1764025,nssv1764098,nssv1764022,nssv1764082,nssv1764043,nssv1764093,nssv1764013,nssv1764060,nssv1764034,nssv1764059,nssv1764033,nssv1764048,nssv1764084,nssv1764065,nssv1764036,nssv1764046,nssv1764020,nssv1764049,nssv1764026,nssv1764067,nssv1764088,nssv1764095,nssv1764037,nssv1764044,nssv1764089,nssv1764074,nssv1764011,nssv1764079,nssv1764087,nssv1764073,nssv1764018,nssv1764097,nssv1764035,nssv1764101,nssv1764010,nssv1764056,nssv1764039,nssv1764050,nssv1764019,nssv1764068,nssv1764090,nssv1764066,nssv1764085,nssv1764054,nssv1764042,nssv1764061,nssv1764012,nssv1764076,nssv1764041,nssv1764080,nssv1764029,nssv1764045,nssv1764006,nssv1764072,nssv1764032,nssv1764100,nssv1764086,nssv1764078,nssv1764016,nssv1764051,nssv1764015,nssv1764070,nssv1764091,nssv1764094,nssv1764008,nssv1764096,nssv1764007,nssv1764099,nssv1764009,nssv1764052,nssv1764071 M 97 10 0 CDC42 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4036334 1 22419674 22419764 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849351 M 10847 0 1 "" nsv4517465 1 22420506 22421089 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849352 M 10847 0 1 "" nsv5570947 1 22420778 22421088 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063394 M 35 0 1 "" HG03065 nsv5874315 1 22420778 22421088 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360421 M 914 0 1 "" nsv5426177 1 22420791 22421089 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902315 M 3202 0 1 "" nsv4035768 1 22420791 22421774 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849353 M 10847 0 1 "" nsv4038403 1 22421731 22421790 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849354 M 10847 0 1 "" nsv5692166 1 22425100 22425100 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205695 M 3202 1 0 "" nsv5394507 1 22425100 22425151 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902317 M 3202 1 0 "" nsv3193445 1 22426410 22426538 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355963 M 9 0 1 "" HG00514 nsv6245583 1 22426425 22426425 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17838637 M 1021 1 0 "" nsv4537457 1 22430878 22430879 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030087 M 10847 1 0 "" nsv6320208 1 22431995 22432686 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058499 M 19652 0 1 "" nsv4043020 1 22437353 22440052 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849355 M 10847 0 1 "" nsv6323243 1 22437358 22440052 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058504 M 19652 0 1 "" nsv5829205 1 22438761 22440110 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463209 M 914 0 0 "" nsv5882991 1 22438777 22440048 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367709 M 914 0 1 "" nsv5431562 1 22445567 22445686 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902318 M 3202 0 1 WNT4 esv3585463 1 22449535 22451506 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889257 M 2504 0 1 WNT4 HG00452 nsv5431644 1 22449545 22451523 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902319 M 3202 0 1 WNT4 nsv5982586 1 22449548 22451514 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536256 M 405 0 1 WNT4 nsv460806 1 22451845 22512847 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537310 M 1557 0 1 WNT4 1780862415_A nsv545747 1 22451845 22512847 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173798 M 17421 0 1 WNT4 1780862415_A dgv57n106 1 22468900 22470300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1118105,nsv1136067 M 2 0 2 WNT4 KWS1,KWS2 nsv1075319 1 22469299 22470000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772586 M 1 0 1 WNT4 KWP1 nsv950284 1 22469301 22470200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997094 M 1 0 1 WNT4 BILGI_BIOE nsv5415234 1 22486214 22486943 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902320 M 3202 0 1 "" nsv6316608 1 22486214 22486943 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058042 M 19652 0 1 "" esv2762135 1 22487500 22494844 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005205 M 1109 0 1 "" RW_0118 esv2745142 1 22489138 22489468 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6836196 M 96 0 1 "" SSM083 nsv1116589 1 22489139 22489229 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961426,nssv3993563 M 2 2 0 "" KWS1,KWS2 nsv5875942 1 22489513 22489603 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369451 M 914 0 1 "" nsv5430375 1 22491163 22493975 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902321 M 3202 1 0 "" nsv4047491 1 22491163 22494086 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966095 M 10847 1 0 "" nsv6331987 1 22491177 22494078 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202060 M 19652 1 0 "" nsv6245594 1 22496783 22496783 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839143 M 1021 1 0 "" nsv6335037 1 22498494 22509293 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058056 M 19652 0 1 "" nsv517086 1 22499530 22512847 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv679575,nssv682668,nssv661058,nssv663458,nssv656347,nssv664021,nssv665257,nssv671842,nssv666144,nssv687280,nssv677352,nssv653762,nssv676101,nssv653181,nssv663876,nssv682790,nssv664643,nssv671692,nssv669739,nssv683851,nssv684635 M 2026 0 21 "" nsv5829220 1 22499753 22509328 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460957 M 914 0 0 "" nsv5577689 1 22499758 22509303 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063409 M 35 0 1 "" NA19983 nsv5880118 1 22499758 22509303 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363852 M 914 0 1 "" esv2660559 1 22499758 22509304 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6523562,essv6101350,essv5680234,essv6041697,essv6095506,essv6576953,essv5953832,essv5846146,essv6527379 M 1151 0 9 "" NA18868,NA19107,NA19247,NA19379,NA19438,NA19451,NA19466,NA19713,NA20341 nsv4033968 1 22499759 22509304 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849356 M 10847 0 1 "" nsv5424531 1 22499759 22509304 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902322 M 3202 0 1 "" esv3585464 1 22499759 22509308 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889274,essv9889279,essv9889259,essv9889277,essv9889283,essv9889278,essv9889284,essv9889275,essv9889282,essv9889276,essv9889285,essv9889273,essv9889286,essv9889268,essv9889280,essv9889265,essv9889281,essv9889262,essv9889258,essv9889267,essv9889270,essv9889269,essv9889266,essv9889272,essv9889260,essv9889271,essv9889263,essv9889261,essv9889264 M 2504 0 29 "" HG01077,HG02006,HG02537,HG02557,HG02771,HG02805,HG02837,HG02860,HG02890,HG02946,HG02974,HG03163,HG03195,HG03199,HG03267,HG03271,NA18868,NA18933,NA19107,NA19113,NA19247,NA19379,NA19438,NA19451,NA19466,NA19713,NA20298,NA20342,NA20348 esv2421859 1 22500228 22509251 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5060034,essv5102934,essv5063248,essv5023611,essv5114057,essv5026109,essv5143680,essv5155133,essv5106782,essv5046500,essv5025384,essv5147501,essv5081713,essv5139059,essv5007542,essv5006220,essv5112577,essv5054217,essv5142667,essv5117300,essv5095750,essv5066431,essv5043047,essv5062450,essv5119150,essv5016642,essv5009562,essv5054726,essv5138053,essv5095704 M 1184 0 30 "" NA18497,NA18855,NA18857,NA18868,NA18869,NA18933,NA18935,NA19107,NA19109,NA19113,NA19122,NA19247,NA19249,NA19379,NA19438,NA19451,NA19466,NA19713,NA19983,NA20336,NA20337,NA20341,NA20342,NA20348,NA21360,NA21361,NA21400,NA21401,NA21587,NA21650 esv2764193 1 22501716 22509206 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005214,essv7005225,essv7005207,essv7005216,essv7005228,essv7005215,essv7005218,essv7005219,essv7005221,essv7005208,essv7005210,essv7005224,essv7005222,essv7005217,essv7005226,essv7005229,essv7005209,essv7005220,essv7005227,essv7005206,essv7005211,essv7005213 M 1109 0 22 "" RW_0001,RW_0069,RW_0078,RW_0093,RW_0107,RW_0114,RW_0120,RW_0145,RW_0152,RW_0200,RW_0228,RW_0231,RW_0258,RW_0266,RW_0323,RW_0527,RW_0559,RW_0587,RW_0601,RW_0616,RW_0653,RW_0665 nsv6327961 1 22501991 22520913 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058616 M 19652 0 1 "" esv3663899 1 22502810 22502810 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486712 M 20 1 0 "" nsv5676121 1 22503691 22503691 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17184141 M 3202 1 0 "" nsv5406651 1 22503691 22503742 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902323 M 3202 1 0 "" nsv4042442 1 22507732 22507853 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849357 M 10847 0 1 "" esv3666780 1 22507850 22508014 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489305 M 20 0 0 "" nsv5873253 1 22515963 22516056 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354371 M 914 0 1 "" nsv4039207 1 22515965 22516057 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849358 M 10847 0 1 "" nsv5430671 1 22515965 22516057 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902325 M 3202 0 1 "" nsv4035029 1 22516759 22801918 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966096 M 10847 1 0 ZBTB40 nsv6331470 1 22518963 22532791 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058627 M 19652 0 1 "" nsv5867994 1 22521195 22521873 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353422 M 914 0 1 "" nsv4051476 1 22521195 22521894 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849359 M 10847 0 1 "" esv2585230 1 22525718 22527154 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5282711 M 1 0 1 "" NA18507 nsv6326190 1 22538130 22540195 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058641 M 19652 0 1 "" esv3585465 1 22539235 22630247 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889287 M 2504 0 1 "" HG03469 nsv5423258 1 22539289 22630314 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902327 M 3202 0 1 "" nsv4517342 1 22541784 22542439 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849360 M 10847 0 1 "" nsv5982716 1 22544004 22544073 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536624 M 405 0 1 "" nsv5687574 1 22554027 22554027 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205696 M 3202 1 0 "" nsv5613187 1 22554116 22554116 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062806 M 35 1 0 "" HG03065 nsv5956570 1 22554116 22554116 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17355675 M 914 1 0 "" nsv522370 1 22555993 22591456 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv695150 M 2026 0 1 "" nsv3194488 1 22557441 22557631 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355988,nssv14355989 M 9 0 2 "" NA19239,NA19240 nsv6332233 1 22560194 22561793 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058663 M 19652 0 1 "" nsv4460352 1 22561101 22561102 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030098 M 10847 1 0 "" nsv6326006 1 22570818 22604699 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202064 M 19652 1 0 "" nsv6318723 1 22574878 22583760 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058676 M 19652 0 1 "" nsv516575 1 22588993 22598057 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv674738,nssv669268 M 2026 0 2 "" esv3585466 1 22590545 22592053 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889288 M 2504 0 1 "" NA18597 nsv5427300 1 22590558 22591946 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902330 M 3202 0 1 "" esv3585467 1 22591060 22594203 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889289,essv9889291,essv9889290 M 2504 0 3 "" HG03196,HG03469,NA19149 nsv6326637 1 22591194 22594593 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058689 M 19652 0 1 "" nsv4043360 1 22591197 22594224 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849361 M 10847 0 1 "" nsv5424446 1 22591197 22594224 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902331 M 3202 0 1 "" nsv4518188 1 22599868 22599922 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849362 M 10847 0 1 "" nsv522775 1 22600073 22600167 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698416 M 2026 0 1 "" nsv159512 1 22600080 22608663 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178090 M 24 "" nsv528939 1 22600167 22607557 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705630 M 2026 0 1 "" esv3577784 1 22604841 22623863 CNV loss Uddin_et_al_2014 25503493 SNP array essv9818977 M 873 0 1 "" 400821FE nsv4034748 1 22612483 22625923 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849363 M 10847 0 1 "" dgv131n100 1 22612690 22805892 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002972,nsv1014969 M 11257 2 0 ZBTB40 nsv6325486 1 22613252 22797357 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202065 M 19652 1 0 ZBTB40 esv3577783 1 22619255 22623863 CNV loss Uddin_et_al_2014 25503493 SNP array essv9819199,essv9819310,essv9820199,essv9819088,essv9819643,essv9819421,essv9819977,essv9819865,essv9819532,essv9820088,essv9819754 M 873 0 11 "" 400325BE,400454RE,400843FL,400934LA,401303FM,401355CD,401460LW,401487FW,401495NR,401735LE,401792KR nsv4460642 1 22628156 22628157 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030109 M 10847 1 0 "" nsv5686075 1 22628167 22628167 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17184300 M 3202 1 0 "" nsv6323047 1 22634065 22634792 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058717 M 19652 0 1 "" nsv6550605 1 22636884 22637858 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249326 M 19652 0 0 "" nsv6541531 1 22637159 22637621 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249327 M 19652 0 0 "" nsv5683367 1 22637875 22637875 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17184307 M 3202 1 0 "" nsv5872671 1 22646573 22646804 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361831 M 914 0 1 "" nsv4041576 1 22646573 22646820 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849364 M 10847 0 1 "" nsv5432130 1 22646573 22646820 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902333 M 3202 0 1 "" nsv6333456 1 22646573 22646820 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057659 M 19652 0 1 "" nsv945820 1 22647266 22650619 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765040,nssv1765091,nssv1765106,nssv1765065,nssv1765062,nssv1765085,nssv1764107,nssv1765114,nssv1765105,nssv1765100,nssv1765044,nssv1765080,nssv1764103,nssv1765077,nssv1765054,nssv1765072,nssv1765064,nssv1765081,nssv1765113,nssv1765102,nssv1765049,nssv1765076,nssv1765038,nssv1765121,nssv1765107,nssv1765089,nssv1765050,nssv1765119,nssv1765109,nssv1765101,nssv1765060,nssv1765074,nssv1765108,nssv1765120,nssv1765048,nssv1765097,nssv1765055,nssv1765093,nssv1765063,nssv1765094,nssv1765034,nssv1765071,nssv1765032,nssv1765123,nssv1765104,nssv1765099,nssv1765052,nssv1765087,nssv1765043,nssv1765078,nssv1765039,nssv1765090,nssv1765042,nssv1765084,nssv1765057,nssv1765118,nssv1765053,nssv1765068,nssv1765045,nssv1765122,nssv1765035,nssv1765088,nssv1765111,nssv1765095,nssv1765059,nssv1765117,nssv1765051,nssv1765116,nssv1765056,nssv1765082,nssv1765110,nssv1765115,nssv1765061,nssv1765075,nssv1765041,nssv1765096,nssv1765047,nssv1765066,nssv1765046,nssv1765083,nssv1765033,nssv1765073,nssv1765058,nssv1765069,nssv1765112,nssv1765092,nssv1764106,nssv1765067,nssv1764105,nssv1765079,nssv1765037,nssv1765098,nssv1765036,nssv1765103,nssv1764104,nssv1765070,nssv1765086 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5415483 1 22648357 22652810 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902334 M 3202 0 1 "" nsv5982814 1 22648357 22652810 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531465 M 405 0 1 "" esv3585468 1 22648535 22652896 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889292 M 2504 0 1 "" HG01597 nsv5867693 1 22650265 22652574 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353883 M 914 0 1 "" nsv4040349 1 22650272 22652575 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849366 M 10847 0 1 "" nsv6324377 1 22650272 22652575 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057661 M 19652 0 1 "" nsv5829209 1 22650282 22652581 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459372 M 914 0 0 "" nsv5877293 1 22652457 22653548 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362731 M 914 0 1 "" nsv6323644 1 22652457 22653549 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057664 M 19652 0 1 "" nsv4048017 1 22652459 22653549 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849367 M 10847 0 1 "" nsv5829210 1 22652482 22653581 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461624 M 914 0 0 "" nsv4044382 1 22652937 22653222 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849368 M 10847 0 1 "" nsv6548988 1 22660458 22662796 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249329 M 19652 0 0 "" nsv1076320 1 22661999 22664100 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762509 M 1 1 0 "" KWP1 nsv5871836 1 22662848 22663087 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357526 M 914 0 1 "" nsv3535909 1 22662883 22662883 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413801 M 9 1 0 "" HG00514 esv2664761 1 22663050 22663480 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6441486,essv5983075,essv5469925,essv5824704,essv5852863,essv5481127,essv5870312,essv6337821,essv6546398,essv5733079,essv5714743,essv6031111,essv5698635,essv6247706,essv6173569,essv6372588,essv6086235,essv5816793,essv5700474,essv6478052,essv6365276,essv6138184,essv5997201,essv5807392,essv5687159,essv6403031,essv5595165,essv6242495,essv6538955,essv6037503,essv5408301,essv6571297,essv5592925,essv6161287,essv6339749,essv5786403,essv6210141,essv6490824,essv6261598,essv5570643,essv6307811,essv5752874,essv6326345,essv6133020,essv6086524,essv6098269,essv6390041,essv6216525,essv5584071,essv5423164,essv6215201,essv5645050,essv5748532,essv6444537,essv6497491,essv6012231,essv6513426,essv5454383,essv6113903,essv6566278,essv6211764,essv5702061,essv6215773,essv5634814,essv5572991,essv5990471,essv6373556,essv6038895,essv6467245,essv6575470,essv6467226,essv6514594,essv5860970,essv6275562,essv6498522,essv6515456,essv5751738,essv6086581,essv6137330,essv6362584,essv6388912,essv5585949,essv6136204,essv6451909,essv5401565,essv5398429,essv6432450,essv6300826,essv5714656,essv5901228,essv5775398,essv5622147,essv5883416,essv6400127,essv5953093 M 1151 0 95 "" HG00118,HG00122,HG00124,HG00127,HG00179,HG00181,HG00185,HG00246,HG00275,HG00306,HG00336,HG00338,HG00345,HG00368,HG00369,HG00404,HG00554,HG00595,HG00607,HG00650,HG00651,HG00699,HG00702,HG00704,HG00707,HG00734,HG01066,HG01101,HG01111,HG01124,HG01134,HG01251,HG01253,HG01254,HG01353,HG01378,HG01440,HG01461,HG01497,NA18908,NA18917,NA18945,NA18963,NA18988,NA19000,NA19004,NA19012,NA19072,NA19081,NA19102,NA19198,NA19312,NA19313,NA19319,NA19321,NA19324,NA19327,NA19331,NA19334,NA19355,NA19372,NA19376,NA19381,NA19395,NA19404,NA19443,NA19445,NA19446,NA19451,NA19457,NA19467,NA19474,NA19664,NA19670,NA19716,NA19731,NA19755,NA19773,NA19776,NA19780,NA19782,NA19785,NA19901,NA20126,NA20278,NA20289,NA20299,NA20332,NA20336,NA20348,NA20356,NA20528,NA20581,NA20769,NA20778 nsv5959834 1 22663056 22663056 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352596 M 914 1 0 "" nsv3193060 1 22663091 22663403 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356029,nssv14356028 M 9 0 2 "" HG00512,HG00514 esv3663913 1 22663095 22663095 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486725 M 20 1 0 "" nsv5982652 1 22663426 22663481 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536059 M 405 0 1 "" nsv6324346 1 22663649 22663920 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057666 M 19652 0 1 "" nsv1140408 1 22663674 22663957 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979114 M 2 1 0 "" KWS2 esv3666792 1 22663872 22663981 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489316 M 20 0 0 "" nsv5982591 1 22671825 22671922 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525427 M 405 0 1 "" nsv6245605 1 22674034 22674034 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839144 M 1021 1 0 "" nsv520015 1 22675221 22683030 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697178 M 2026 0 1 "" nsv159392 1 22679557 22679695 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv177970 M 24 "" nsv5622090 1 22687019 22687019 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063423 M 35 1 0 "" HG00731 nsv3542765 1 22687020 22687020 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438817 M 9 1 0 "" HG00733 nsv4760473 1 22696633 22696633 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16282363 M 25 1 0 "" nsv3536228 1 22696670 22696670 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14438818,nssv14382609 M 9 2 0 "" HG00733,NA19240 nsv5618516 1 22696670 22696670 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063435 M 35 1 0 "" HG00732 nsv5961345 1 22696670 22696670 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350698 M 914 1 0 "" nsv6055440 1 22696670 22696670 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523318 M 405 1 0 "" nsv2801392 1 22696671 22696671 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680580 M 2 1 0 "" nsv3322106 1 22696671 22696671 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485589,nssv14484174,nssv14486434,nssv14480139,nssv14477098 M 14 5 0 "" CHM1,HG00268,HG02059,HG02818,NA19434 nsv6317498 1 22697059 22698204 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18057680 M 19652 0 1 "" nsv5887139 1 22697683 22699130 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361784 M 914 0 1 "" nsv5419940 1 22697915 22699573 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902337 M 3202 1 0 "" nsv5545131 1 22699573 22699573 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902339 M 3202 1 0 "" nsv5556626 1 22699573 22699574 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902338 M 3202 0 0 "" nsv5875078 1 22700927 22704045 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358956 M 914 0 1 "" nsv5829222 1 22702533 22704082 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458241,nssv17450331 M 914 0 0 "" nsv545748 1 22711378 22742985 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711295 M 17421 0 1 "" nsv6187 1 22715564 22735921 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3965 M 9 0 1 "" NA12878 nsv5829373 1 22720440 22724801 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469391 M 914 0 0 "" nsv5882518 1 22720614 22724726 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350127 M 914 0 1 "" nsv472291 1 22720826 22720826 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020184 M 9 1 0 "" NA18555 nsv5829211 1 22721381 22722526 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460752,nssv17455561 M 914 0 0 "" nsv6319578 1 22723553 22741660 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202671 M 19652 1 0 "" nsv4036669 1 22732835 22742477 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966097 M 10847 1 0 "" nsv6319436 1 22732835 22742477 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202673 M 19652 1 0 "" esv3663928 1 22733107 22733107 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486739 M 20 1 0 "" nsv5683386 1 22734027 22734027 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17184638 M 3202 1 0 "" nsv5412132 1 22734027 22734078 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902342 M 3202 1 0 "" nsv5418144 1 22734357 22734409 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902343 M 3202 0 1 "" nsv4033475 1 22736443 22736883 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849369 M 10847 0 1 "" nsv6316767 1 22743494 22745293 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058261 M 19652 0 1 "" nsv5829212 1 22751937 22759593 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458699 M 914 0 0 "" nsv4460651 1 22753569 22753570 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030119 M 10847 1 0 "" nsv6316990 1 22755241 22759690 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058268 M 19652 0 1 "" nsv4322371 1 22757595 22757877 OTHER inversion gnomAD_Structural_Variants 32461652 Sequencing nssv16090160 M 10847 0 0 "" nsv5609708 1 22757738 22757738 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062996 M 35 1 0 "" NA19238 nsv5952540 1 22757738 22757738 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354740 M 914 1 0 "" nsv1110998 1 22757738 22757792 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961428 M 2 1 0 "" KWS1 nsv4518189 1 22757738 22757792 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966098 M 10847 1 0 "" nsv6049239 1 22757762 22757762 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517784 M 405 1 0 "" nsv3321649 1 22757764 22757764 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474866,nssv14485991 M 14 2 0 "" HG01352,NA19240 nsv3534146 1 22757769 22757769 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388900 M 9 1 0 "" NA19240 nsv5608531 1 22757771 22757771 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062997 M 35 1 0 "" NA19238 nsv3321839 1 22757786 22757786 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482273 M 14 1 0 "" HG02106 nsv5885553 1 22759738 22760139 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357240 M 914 0 1 "" nsv5982655 1 22759738 22760140 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524095 M 405 0 1 "" nsv4517112 1 22759740 22760140 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849370 M 10847 0 1 "" nsv5423013 1 22759740 22760140 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902344 M 3202 0 1 "" nsv5962991 1 22759925 22759925 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357448 M 914 1 0 "" nsv4035548 1 22760053 22760136 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849371 M 10847 0 1 "" nsv5433722 1 22760053 22760136 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902346 M 3202 0 1 "" nsv4044848 1 22760119 22760174 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849372 M 10847 0 1 "" nsv5421524 1 22760119 22760174 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902347 M 3202 0 1 "" nsv6537943 1 22763755 22764389 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249375 M 19652 0 0 "" esv2745153 1 22768651 22769492 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6666906,essv6933315 M 96 0 2 "" SSM021,SSM030 nsv5876617 1 22768854 22768932 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355682 M 914 0 1 "" nsv5982597 1 22768879 22768953 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521110 M 405 0 1 "" nsv4533973 1 22772685 22772686 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030700 M 10847 1 0 "" nsv6322828 1 22774798 22776376 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058274 M 19652 0 1 "" nsv4034546 1 22776250 22785242 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849373 M 10847 0 1 ZBTB40 nsv5693622 1 22781824 22781824 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17185280 M 3202 1 0 ZBTB40 nsv5399899 1 22781824 22781875 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902348 M 3202 1 0 ZBTB40 esv3401180 1 22782257 22782257 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8701365 M 185 1 0 ZBTB40 NA12878 nsv4461036 1 22786230 22786231 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030711 M 10847 1 0 ZBTB40 nsv5690730 1 22786247 22786247 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17184402,nssv17205698 M 3202 2 0 ZBTB40 nsv6245617 1 22786247 22786247 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839145 M 1021 1 0 ZBTB40 nsv5409442 1 22786247 22786298 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902350 M 3202 1 0 ZBTB40 nsv4461037 1 22788060 22788061 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030720 M 10847 1 0 ZBTB40 nsv6551953 1 22794082 22794594 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249387 M 19652 0 0 ZBTB40 nsv4043365 1 22796319 22797805 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849374 M 10847 0 1 ZBTB40 nsv5717729 1 22801564 22801564 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17246072 M 3202 1 0 ZBTB40 nsv5556441 1 22801579 22801615 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902351 M 3202 1 0 ZBTB40 dgv119n223 1 22804054 22804759 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6539445,nsv6554031 M 19652 0 0 ZBTB40 esv3663935 1 22808280 22808280 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486745 M 20 1 0 ZBTB40 nsv5724930 1 22812505 22812505 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17242546 M 3202 1 0 ZBTB40 esv3585469 1 22815357 22816029 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889295,essv9889294,essv9889293 M 2504 0 3 ZBTB40 HG01537,HG02787,NA20527 nsv4049540 1 22815372 22816008 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849376 M 10847 0 1 ZBTB40 nsv5418492 1 22815372 22816008 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902352 M 3202 0 1 ZBTB40 nsv6320120 1 22815372 22816008 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058300 M 19652 0 1 ZBTB40 nsv6315616 1 22816582 22826736 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202684 M 19652 1 0 ZBTB40 nsv6332025 1 22818695 22826313 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058302 M 19652 0 1 ZBTB40 nsv5430108 1 22822301 22822364 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902353 M 3202 1 0 ZBTB40 nsv4461038 1 22822900 22822901 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030730 M 10847 1 0 ZBTB40 nsv5693645 1 22822912 22822912 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17185292 M 3202 1 0 ZBTB40 nsv5398441 1 22822912 22822963 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902355 M 3202 1 0 ZBTB40 nsv4461039 1 22829637 22829638 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030741 M 10847 1 0 ZBTB40 nsv5690107 1 22829650 22829650 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17183630 M 3202 1 0 ZBTB40 nsv5394974 1 22829650 22829701 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902356 M 3202 1 0 ZBTB40 nsv6298 1 22832508 22877564 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8765 M 9 0 1 ZBTB40 NA12156 nsv6331712 1 22833951 22840422 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058322 M 19652 0 1 ZBTB40 nsv6316319 1 22834379 22835743 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058323 M 19652 0 1 ZBTB40 nsv506921 1 22834549 22840549 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623263,nssv620646,nssv619226 M 4 0 0 ZBTB40 NA10860,NA15510,NA18994 nsv5872326 1 22838126 22839011 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17368409 M 914 1 0 ZBTB40 nsv4460891 1 22842509 22842510 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028731 M 10847 1 0 ZBTB40 nsv4050732 1 22848485 22970902 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966099 M 10847 1 0 C1QA,C1QC,EPHA8,MIR6127,ZBTB40 nsv4043477 1 22849687 22849748 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849377 M 10847 0 1 ZBTB40 nsv819803 1 22855681 22855985 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418549 M 2 1 0 ZBTB40 AK1 nsv509024 1 22863483 22908236 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619780 M 4 1 0 EPHA8 NA10860 nsv4033529 1 22864519 22866462 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849378 M 10847 0 1 "" nsv480045 1 22866288 22866288 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017056 M 9 0 0 "" nsv6324052 1 22867400 22876148 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058352 M 19652 0 1 "" nsv5422103 1 22868492 22871000 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902357 M 3202 0 1 "" nsv5873935 1 22868526 22871067 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360516 M 914 0 1 "" nsv5829463 1 22868599 22871223 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456940 M 914 0 0 "" esv2666301 1 22868673 22871033 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5771984 M 1151 0 1 "" NA19712 nsv6321087 1 22868673 22871033 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058353 M 19652 0 1 "" esv3585471 1 22868686 22871007 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889298 M 2504 0 1 "" NA19712 nsv4035778 1 22872059 22872141 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849379 M 10847 0 1 "" esv3663945 1 22872880 22872880 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486754 M 20 1 0 "" esv3682713 1 22873976 22874170 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467518 M 20 0 1 "" nsv545749 1 22877813 22952386 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711296,nssv711297 M 17421 0 2 EPHA8 esv3585472 1 22885394 22888041 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889301,essv9889300,essv9889299 M 2504 0 3 "" HG00182,HG00409,NA18644 nsv4036524 1 22885467 22887999 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849380 M 10847 0 1 "" nsv5430566 1 22885467 22887999 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902358 M 3202 0 1 "" nsv545750 1 22885766 22890921 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711298 M 17421 0 1 EPHA8 esv3585473 1 22886444 22888220 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889302 M 2504 0 1 "" NA18858 esv2663187 1 22886488 22888331 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6533054,essv5967653 M 1151 0 2 "" NA18853,NA18858 nsv4051733 1 22886508 22888294 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849381 M 10847 0 1 "" nsv5422564 1 22886508 22888294 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902359 M 3202 0 1 "" nsv6324442 1 22886508 22888294 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058366 M 19652 0 1 "" esv27002 1 22886525 22888263 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17180 M 40 0 1 "" NA18858 nsv4460364 1 22886562 22886563 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028741 M 10847 1 0 "" esv26050 1 22889175 22891179 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv12203,esv13267 M 40 3 0 EPHA8 NA06985,NA12044,NA18861 dgv181n54 1 22889203 22891069 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545752,nsv545751 M 17421 0 2 EPHA8 nsv545753 1 22889472 22890655 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711301 M 17421 0 1 EPHA8 dgv182n54 1 22889849 22890966 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545755,nsv545757,nsv545756 M 17421 4 0 EPHA8 dgv183n54 1 22889849 22891069 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545754,nsv545758 M 17421 0 3 EPHA8 nsv1076260 1 22889899 22890200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767860 M 1 0 1 EPHA8 KWP1 dgv58n106 1 22889900 22890300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1126185,nsv1136068 M 2 0 2 EPHA8 KWS1,KWS2 dgv184n54 1 22890047 22890815 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545759,nsv545760 M 17421 0 2 EPHA8 dgv185n54 1 22890442 22891123 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545766,nsv545761 M 17421 2 0 EPHA8 dgv186n54 1 22890458 22890915 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545763,nsv545762 M 17421 0 2 EPHA8 dgv187n54 1 22890458 22891142 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545767,nsv545764,nsv545765 M 17421 0 3 EPHA8 nsv545768 1 22890604 22890921 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711318 M 17421 0 1 EPHA8 dgv188n54 1 22890655 22891017 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545770,nsv545769 M 17421 3 0 EPHA8 nsv545771 1 22890655 22891069 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711325,nssv711322,nssv711324,nssv711323 M 17421 2 2 EPHA8 dgv189n54 1 22890655 22891142 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545773,nsv545772 M 17421 0 3 EPHA8 dgv63e59 1 22896923 22897036 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3302704,esv3302676 M 185 20 0 EPHA8 NA12878,NA18501,NA18502,NA18508,NA18511,NA18522,NA18870,NA18916,NA18948,NA18952,NA18956,NA18965,NA19093,NA19108,NA19129,NA19225,NA19238,NA19239,NA19240,NA19257 nsv4444867 1 22896933 22896933 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15763700 M 1 1 0 EPHA8 nsv5611121 1 22896933 22896933 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063026 M 35 1 0 EPHA8 HG00731 nsv5887035 1 22896933 22897025 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17355961 M 914 1 0 EPHA8 nsv3525615 1 22896933 22897026 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356074,nssv14356076,nssv14356075,nssv14356077 M 9 4 0 EPHA8 HG00733,NA19238,NA19239,NA19240 nsv4518037 1 22896933 22897028 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966100 M 10847 1 0 EPHA8 nsv5427835 1 22896933 22897028 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902361 M 3202 1 0 EPHA8 nsv3060791 1 22896934 22896934 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019829 M 2 1 0 EPHA8 CHM1 nsv4758826 1 22896940 22896940 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16266885 M 25 1 0 EPHA8 esv3374857 1 22896941 22897035 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8670871,essv8670872,essv8670870,essv8670869 M 185 4 0 EPHA8 NA12878,NA19238,NA19239,NA19240 nsv3936010 1 22896988 22896988 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192669 M 1 1 0 EPHA8 HG002 nsv6045871 1 22896989 22896989 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519832 M 405 1 0 EPHA8 dgv139n152 1 22896989 22897099 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3189833,nsv3173291 M 9 0 0 EPHA8 HG00733,NA19240 nsv2800677 1 22897000 22897000 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13697216 M 2 1 0 EPHA8 nsv3322268 1 22897000 22897000 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479614,nssv14490363,nssv14478381,nssv14490912,nssv14480206,nssv14491729 M 14 6 0 EPHA8 CHM1,CHM13,HG00268,HG00733,HG02059,NA19240 nsv3051670 1 22897010 22897010 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025542 M 2 1 0 EPHA8 NA12878 esv994542 1 22901386 22906644 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565422 M 3 1 0 EPHA8 HuRef nsv4460365 1 22901908 22901909 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028748 M 10847 1 0 EPHA8 nsv6055025 1 22901910 22901910 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528933 M 405 1 0 EPHA8 nsv4757950 1 22901914 22901914 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295746 M 25 1 0 EPHA8 nsv5691950 1 22901919 22901919 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205699,nssv17184456 M 3202 2 0 EPHA8 nsv6245648 1 22901919 22901919 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839146 M 1021 1 0 EPHA8 nsv5397583 1 22901919 22901970 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902363 M 3202 1 0 EPHA8 nsv3222117 1 22902181 22933761 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260599,nssv14260594,nssv14260600,nssv14260595,nssv14260598,nssv14260596,nssv14260597,nssv14260602,nssv14260601 M 9 9 0 EPHA8 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 dgv64e59 1 22904065 22906663 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3437457,esv3382026 M 185 2 0 EPHA8 NA19238,NA19240 nsv1077285 1 22904199 22906000 CNV duplication Thareja_et_al_2015 25765185 Sequencing nssv3762183 M 1 1 0 EPHA8 KWP1 dgv59n106 1 22904200 22906100 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1128592,nsv1115340 M 2 2 0 EPHA8 KWS1,KWS2 nsv6329259 1 22904247 22904825 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202698 M 19652 1 0 EPHA8 nsv4444868 1 22904269 22904269 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766422 M 1 1 0 EPHA8 nsv5982732 1 22904269 22904339 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17534998 M 405 1 0 EPHA8 nsv1151588 1 22904299 22906100 CNV duplication John_et_al_2014 26484159 Sequencing nssv4003011 M 1 1 0 EPHA8 KWB1 esv3577 1 22904316 22904674 CNV loss Wang_et_al_2008 18987735 Sequencing essv26018 M 1 0 1 EPHA8 YH dgv28e199 1 22904316 22905637 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2663353,esv2672696,esv2661077 M 1151 0 128 EPHA8 HG00100,HG00120,HG00141,HG00142,HG00160,HG00178,HG00190,HG00264,HG00267,HG00311,HG00320,HG00324,HG00335,HG00343,HG00366,HG00421,HG00524,HG00553,HG00578,HG00620,HG00650,HG00732,HG00740,HG01047,HG01048,HG01055,HG01097,HG01133,HG01134,HG01136,HG01171,HG01359,HG01440,HG01498,NA07051,NA11830,NA11843,NA11892,NA12058,NA12275,NA12400,NA12718,NA12777,NA18488,NA18507,NA18520,NA18522,NA18543,NA18553,NA18562,NA18564,NA18577,NA18582,NA18619,NA18873,NA18917,NA18924,NA18963,NA18982,NA18988,NA18990,NA19003,NA19004,NA19072,NA19082,NA19083,NA19084,NA19092,NA19116,NA19130,NA19189,NA19198,NA19313,NA19350,NA19393,NA19445,NA19446,NA19448,NA19455,NA19457,NA19461,NA19466,NA19471,NA19472,NA19648,NA19654,NA19658,NA19678,NA19679,NA19681,NA19682,NA19685,NA19704,NA19717,NA19728,NA19780,NA19788,NA19818,NA19835,NA19900,NA19908,NA20334,NA20506,NA20522,NA20527,NA20541,NA20542,NA20581,NA20582,NA20755,NA20757,NA20759,NA20760,NA20761,NA20766,NA20769,NA20775,NA20783,NA20787,NA20792,NA20796,NA20798,NA20799,NA20800,NA20805,NA20807,NA20809,NA20810 nsv4034660 1 22904364 22904761 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966101 M 10847 1 0 EPHA8 nsv4764520 1 22904369 22904369 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16280066 M 25 1 0 EPHA8 nsv4745179 1 22904369 22905585 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16290393 M 25 1 0 EPHA8 nsv820259 1 22904399 22904495 CNV insertion Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418885 M 2 1 0 EPHA8 AK1 nsv2800678 1 22904424 22904424 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685896 M 2 1 0 EPHA8 nsv3321843 1 22904424 22904424 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485745,nssv14484795,nssv14490092 M 14 3 0 EPHA8 CHM1,HG00733,HG02059 nsv3540870 1 22904432 22904432 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380223 M 9 1 0 EPHA8 NA19240 nsv3058837 1 22904433 22904433 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14023480 M 2 1 0 EPHA8 CHM1 esv3440698 1 22904465 22906063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692159 M 185 1 0 EPHA8 NA19239 nsv3541199 1 22904467 22904467 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380645 M 9 1 0 EPHA8 NA19240 nsv2801304 1 22904469 22904469 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681448 M 2 1 0 EPHA8 nsv3322115 1 22904469 22904469 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482044,nssv14472505,nssv14490571,nssv14475940,nssv14481520,nssv14477690,nssv14478869,nssv14483067,nssv14483278,nssv14488746,nssv14483346,nssv14486319,nssv14486915,nssv14473144 M 14 14 0 EPHA8 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3540715 1 22904483 22904483 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413802,nssv14438820 M 9 2 0 EPHA8 HG00514,HG00733 nsv3932236 1 22904483 22904483 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190835 M 1 1 0 EPHA8 HG002 nsv5545887 1 22904483 22904483 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902364 M 3202 1 0 EPHA8 nsv5617157 1 22904483 22904483 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063185 M 35 1 0 EPHA8 HG00731 nsv6051733 1 22904483 22904483 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521513 M 405 1 0 EPHA8 esv3674635 1 22904483 22904484 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496375 M 20 0 0 EPHA8 nsv1116590 1 22904483 22904546 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978772 M 2 1 0 EPHA8 KWS2 nsv1110999 1 22904483 22904819 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3961429 M 2 1 0 EPHA8 KWS1 nsv2801305 1 22904484 22904484 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689773 M 2 1 0 EPHA8 nsv3051672 1 22904484 22904484 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14022257 M 2 1 0 EPHA8 NA12878 esv1707275 1 22904487 22904487 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3714244 M 2 1 0 EPHA8 HuRef nsv160591 1 22904488 22905585 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179169 M 24 EPHA8 nsv4037518 1 22904936 22905058 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849382 M 10847 0 1 EPHA8 esv2677455 1 22904970 22905856 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5433105,essv6539725,essv6035399,essv6029810,essv6200664,essv5867279,essv6505499,essv6451817,essv6233400,essv6435834,essv5544672,essv5799989,essv6216357,essv6322859,essv6002413,essv5706718,essv6597139,essv5585472,essv5860170,essv5446269,essv5708481,essv5677500,essv6265105,essv6260214,essv5884612 M 1151 0 25 EPHA8 HG00336,HG00380,HG01489,NA11919,NA12347,NA12413,NA12546,NA12827,NA19256,NA19376,NA19377,NA19383,NA19446,NA19448,NA19701,NA19703,NA19776,NA19834,NA19835,NA19900,NA20765,NA20772,NA20801,NA20802,NA20812 nsv4034253 1 22904974 22905058 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849383 M 10847 0 1 EPHA8 nsv5413993 1 22904994 22905064 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902365 M 3202 0 1 EPHA8 esv2745164 1 22905160 22905934 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6829011,essv6668967,essv6797457,essv6859201,essv6816787,essv6972358,essv6876976,essv6750612,essv6843896 M 96 0 9 EPHA8 SSM010,SSM012,SSM029,SSM031,SSM057,SSM072,SSM081,SSM085,SSM088 esv4502 1 22905411 22905658 CNV loss Wang_et_al_2008 18987735 Sequencing essv26943 M 1 0 1 EPHA8 YH nsv3321844 1 22905417 22905534 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487556 M 14 0 1 EPHA8 HG02106 nsv5572452 1 22905430 22905547 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063186 M 35 0 1 EPHA8 NA18939 nsv5875357 1 22905430 22905547 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368765 M 914 0 1 EPHA8 esv3557010 1 22905430 22905548 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9755757 M 767 0 1 EPHA8 nsv5982733 1 22905430 22905548 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532166 M 405 0 1 EPHA8 nsv4738743 1 22905431 22905550 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16263470 M 25 0 1 EPHA8 nsv4517090 1 22905457 22905548 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849384 M 10847 0 1 EPHA8 esv2745175 1 22905462 22905574 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6668967,essv6859201,essv6972358 M 96 0 3 EPHA8 SSM029,SSM031,SSM088 nsv4042849 1 22905775 22905983 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849385 M 10847 0 1 EPHA8 nsv6325384 1 22908162 22951995 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202699 M 19652 1 0 EPHA8 nsv4044944 1 22908183 22952039 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966102 M 10847 1 0 EPHA8 nsv4045060 1 22911226 22919659 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849386 M 10847 0 1 EPHA8 nsv6328775 1 22913789 22997703 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058384 M 19652 0 1 C1QA,C1QB,C1QC,EPHA8,MIR6127 nsv1122309 1 22917634 22917704 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969761 M 2 0 1 EPHA8 KWS2 esv2745186 1 22925846 22926478 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6885987,essv6748475,essv6892326,essv6910058,essv6859202,essv6801624,essv6853251,essv6972359,essv6843897,essv6750613 M 96 0 10 EPHA8 SSM008,SSM015,SSM029,SSM057,SSM073,SSM085,SSM087,SSM088,SSM096,SSM098 esv2745197 1 22926039 22926197 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6885987,essv6859202,essv6853251 M 96 0 3 EPHA8 SSM087,SSM088,SSM096 nsv4745478 1 22926061 22926168 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16264691 M 25 0 1 EPHA8 nsv3322118 1 22926096 22926159 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486766,nssv14489791,nssv14484170,nssv14477770 M 14 0 4 EPHA8 HG00733,HG02818,NA12878,NA19240 nsv3281246 1 22926096 22926194 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386015 M 9 0 1 EPHA8 NA19240 nsv1077237 1 22926099 22926700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762188 M 1 0 1 EPHA8 KWP1 nsv5571072 1 22926126 22926182 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063195 M 35 0 1 EPHA8 HG00732 esv2745208 1 22926129 22926582 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6722015,essv6853251 M 96 0 2 EPHA8 SSM045,SSM087 nsv5878019 1 22926130 22926226 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351585 M 914 0 1 EPHA8 esv3557121 1 22926130 22926227 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9755868 M 767 0 1 EPHA8 nsv3194156 1 22926130 22926227 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356742,nssv14356743 M 9 0 2 EPHA8 NA19238,NA19240 nsv5982737 1 22926130 22926227 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533835 M 405 0 1 EPHA8 esv2745219 1 22926132 22926194 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6853251 M 96 0 1 EPHA8 SSM087 nsv5982661 1 22926134 22926539 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525690 M 405 0 1 EPHA8 nsv4449389 1 22926177 22926229 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15760004 M 1 0 1 EPHA8 nsv6050367 1 22926253 22926253 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529279 M 405 1 0 EPHA8 esv34161 1 22926255 23144223 CNV loss Gusev_et_al_2009 18971310 SNP array essv6990600 M 270 0 0 C1QA,C1QB,C1QC,EPHA8,EPHB2,MIR4684,MIR6127 nsv6055174 1 22926309 22926309 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518637 M 405 1 0 EPHA8 nsv6043126 1 22926343 22926343 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531885 M 405 1 0 EPHA8 nsv5872546 1 22926354 22926453 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357297 M 914 0 1 EPHA8 nsv5616323 1 22926361 22926361 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063196 M 35 1 0 EPHA8 HG03486 nsv5534209 1 22926363 22926399 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902367 M 3202 1 0 EPHA8 nsv4032482 1 22926648 22926708 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849387 M 10847 0 1 EPHA8 nsv5571302 1 22926652 22926706 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063197 M 35 0 1 EPHA8 NA12878 nsv3322272 1 22926653 22926707 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478413,nssv14478751 M 14 0 2 EPHA8 HG02818,NA12878 nsv3321657 1 22926751 22926751 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475470 M 14 1 0 EPHA8 HX1 nsv5621920 1 22926974 22926974 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063198 M 35 1 0 EPHA8 NA20847 nsv4535325 1 22931724 22931725 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028767 M 10847 1 0 "" nsv4517686 1 22931728 22931796 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966103 M 10847 1 0 "" nsv5426488 1 22931728 22931796 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902369 M 3202 1 0 "" nsv4051927 1 22933073 22933226 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849388 M 10847 0 1 "" nsv5431739 1 22933807 22934255 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900093 M 3202 0 1 "" nsv5963669 1 22937357 22937357 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17364595 M 914 1 0 "" nsv5421270 1 22937375 22937439 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900094 M 3202 1 0 "" nsv476854 1 22942816 22942816 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014206 M 9 1 0 "" NA12878 nsv4052153 1 22959082 22959849 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849389 M 10847 0 1 MIR6127 nsv5433102 1 22961963 22962065 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900095 M 3202 0 1 "" nsv4040414 1 22962323 22962393 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966104 M 10847 1 0 "" nsv4460368 1 22966167 22966168 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028783 M 10847 1 0 C1QA nsv473644 1 22972800 22972800 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016456 M 9 1 0 C1QC NA19129 esv3666890 1 22976720 22976820 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489404 M 20 0 0 "" esv2745230 1 22984908 22985711 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6839982,essv6941794,essv6967938,essv6972360,essv6961570 M 96 0 5 C1QB SSM023,SSM027,SSM028,SSM029,SSM084 esv2742989 1 22985334 22986057 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6933316 M 96 0 1 C1QB SSM021 esv2745241 1 22985395 22985481 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961570 M 96 0 1 C1QB SSM027 esv2745253 1 22985647 22985981 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880423,essv6668968 M 96 0 2 C1QB SSM031,SSM094 nsv6045037 1 22985715 22985715 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532739 M 405 1 0 C1QB esv2745264 1 22985731 22985878 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880423 M 96 0 1 C1QB SSM094 nsv5568766 1 22985778 22985831 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062852 M 35 0 1 C1QB HG00513 nsv5982834 1 22985780 22985835 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520190 M 405 0 1 C1QB nsv3186254 1 22985785 22985839 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14417566 M 9 0 0 C1QB HG00514 esv3557343 1 22985785 22985847 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9756090 M 767 0 1 C1QB esv3682729 1 22985785 22985848 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467532 M 20 0 1 C1QB nsv4737582 1 22985790 22985844 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16267172 M 25 0 1 C1QB nsv2801306 1 22985792 22985853 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13682906 M 2 0 1 C1QB nsv3321662 1 22985792 22985853 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473916 M 14 0 1 C1QB CHM13 nsv3322275 1 22985805 22985903 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485926 M 14 0 1 C1QB HG04217 esv1510090 1 22985821 22985883 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4329170 M 2 0 1 C1QB HuRef dgv65e59 1 23004565 23005663 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3330989,esv3367482 M 185 2 0 "" NA19238,NA19239 esv3327416 1 23004765 23006063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692163 M 185 1 0 "" NA19240 nsv6316839 1 23004794 23005993 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202711 M 19652 1 0 "" nsv1116591 1 23005719 23005882 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978773 M 2 1 0 "" KWS2 nsv4032873 1 23008882 23012362 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849390 M 10847 0 1 "" nsv6317207 1 23008882 23012362 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058169 M 19652 0 1 "" nsv4291188 1 23019413 23019414 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028793 M 10847 1 0 "" nsv6551300 1 23022512 23023537 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250294 M 19652 0 0 "" nsv5963822 1 23026485 23026485 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363454 M 914 1 0 "" nsv4044793 1 23027592 23068327 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966105 M 10847 1 0 EPHB2,MIR4684 nsv6319909 1 23027592 23068327 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202715 M 19652 1 0 EPHB2,MIR4684 nsv1118106 1 23036800 23037900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980325 M 2 0 1 EPHB2 KWS1 nsv1075734 1 23037199 23038200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767588 M 1 0 1 EPHB2 KWP1 nsv481144 1 23041422 23041422 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019815 M 9 0 0 EPHB2 nsv4034915 1 23045318 23045619 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849391 M 10847 0 1 EPHB2 nsv6245759 1 23054788 23054788 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839147 M 1021 1 0 EPHB2 nsv3220736 1 23063113 23082720 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271742 M 9 1 0 EPHB2 HG00512 esv2538911 1 23080863 23081608 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5338263 M 1 1 0 EPHB2 NA18507 nsv512725 1 23081288 23081518 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625350 M 1 1 0 EPHB2 1 nsv5982672 1 23081291 23081463 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17536789 M 405 1 0 EPHB2 nsv3056110 1 23081322 23081322 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14028074 M 2 1 0 EPHB2 NA12878 nsv6053604 1 23081333 23081333 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519478 M 405 1 0 EPHB2 nsv3933513 1 23081334 23081334 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190836 M 1 1 0 EPHB2 HG002 nsv4444869 1 23081334 23081334 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759822 M 1 1 0 EPHB2 nsv5612511 1 23081334 23081334 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062888 M 35 1 0 EPHB2 HG00731 nsv2800683 1 23081335 23081335 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682629,nssv13677149 M 2 2 0 EPHB2 nsv3321671 1 23081335 23081335 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477203,nssv14476707,nssv14480112,nssv14488268,nssv14487895,nssv14487475,nssv14474286,nssv14484889,nssv14490455,nssv14481530,nssv14479335,nssv14474663,nssv14472894,nssv14482981 M 14 14 0 EPHB2 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3531986 1 23081336 23081336 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388866,nssv14438821,nssv14413803 M 9 3 0 EPHB2 HG00514,HG00733,NA19240 nsv6042679 1 23081364 23081364 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528911 M 405 1 0 EPHB2 nsv469829 1 23082022 23263410 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1673091,nssv1672672,nssv1676469,nssv1672826 M 265 0 4 EPHB2,MIR4253 nsv5869076 1 23085388 23085460 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366854 M 914 0 1 EPHB2 nsv509036 1 23106632 23185991 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619781 M 4 1 0 EPHB2 NA10860 nsv476503 1 23108704 23108704 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011294 M 9 1 0 EPHB2 NA12878 nsv6333347 1 23120334 23121612 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059183 M 19652 0 1 EPHB2 esv1389294 1 23130139 23130189 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3987352 M 2 0 1 EPHB2 HuRef esv3577785 1 23133795 23143887 CNV loss Uddin_et_al_2014 25503493 SNP array essv9820310 M 873 0 1 EPHB2 400313DF nsv5872584 1 23136127 23136359 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366148 M 914 0 1 EPHB2 nsv6316933 1 23137316 23138046 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059190 M 19652 0 1 EPHB2 nsv5829467 1 23144000 23147344 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451624 M 914 0 0 EPHB2 nsv5872079 1 23144037 23149498 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361999 M 914 0 1 EPHB2 nsv6317288 1 23144037 23149499 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059192 M 19652 0 1 EPHB2 nsv1012432 1 23144589 23164756 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473195 M 11257 0 1 EPHB2 nsv5829531 1 23145600 23147294 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458797 M 914 0 0 EPHB2 nsv4050631 1 23145683 23147105 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849392 M 10847 0 1 EPHB2 nsv5871131 1 23145684 23147104 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351172 M 914 0 1 EPHB2 nsv5982844 1 23145684 23147105 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531644 M 405 0 1 EPHB2 nsv3198128 1 23148329 23151255 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355005,nssv14356786,nssv14355002,nssv14355007,nssv14355003,nssv14355006,nssv14356785,nssv14356784,nssv14355004 M 9 9 0 EPHB2 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4566526 1 23148890 23148891 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028803 M 10847 1 0 EPHB2 nsv5720813 1 23148907 23148907 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17244690 M 3202 1 0 EPHB2 nsv5420614 1 23152228 23152315 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900097 M 3202 1 0 EPHB2 nsv6321519 1 23154567 23160499 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202727 M 19652 1 0 EPHB2 nsv4460379 1 23155559 23155560 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028813 M 10847 1 0 EPHB2 nsv5678665 1 23155576 23155576 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205700,nssv17184808 M 3202 2 0 EPHB2 nsv6245870 1 23155576 23155576 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839206 M 1021 1 0 EPHB2 nsv5403214 1 23155576 23155627 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900099 M 3202 1 0 EPHB2 nsv4533218 1 23157213 23157214 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029384 M 10847 1 0 EPHB2 nsv5728093 1 23157229 23157229 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17238455,nssv17233912 M 3202 2 0 EPHB2 nsv5562591 1 23157229 23157280 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900100 M 3202 1 0 EPHB2 nsv4041772 1 23159283 23159384 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966106 M 10847 1 0 EPHB2 nsv5983068 1 23160452 23160675 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520583 M 405 0 1 EPHB2 nsv4036707 1 23160457 23160675 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849393 M 10847 0 1 EPHB2 nsv6332391 1 23174963 23182048 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059211 M 19652 0 1 EPHB2 nsv6330032 1 23182384 23260722 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202736 M 19652 1 0 EPHB2,MIR4253 nsv528926 1 23189123 23206684 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv705616 M 2026 0 1 EPHB2,MIR4253 nsv1116592 1 23208200 23208257 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978774 M 2 1 0 EPHB2 KWS2 nsv5682537 1 23210152 23210152 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17184984,nssv17205701 M 3202 2 0 EPHB2 nsv5395606 1 23210152 23210203 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900101 M 3202 1 0 EPHB2 nsv6334432 1 23224053 23226562 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202743 M 19652 1 0 EPHB2 nsv6409 1 23224798 23256651 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1954 M 9 1 0 EPHB2 NA18555 nsv5418007 1 23225616 23226619 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900102 M 3202 0 1 EPHB2 nsv6245980 1 23228401 23228401 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839237 M 1021 1 0 EPHB2 nsv4048495 1 23250489 23250626 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849394 M 10847 0 1 "" nsv6548951 1 23253493 23254332 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250319 M 19652 0 0 "" nsv6325516 1 23254575 23256034 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058532 M 19652 0 1 "" nsv6335186 1 23255528 23255952 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058534 M 19652 0 1 "" esv3666915 1 23258013 23258157 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489427 M 20 0 0 "" nsv5432878 1 23261522 23261641 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900103 M 3202 0 1 "" nsv4037508 1 23263938 23341660 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966108 M 10847 1 0 C1orf234 nsv5678545 1 23267814 23267814 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17185448 M 3202 1 0 "" nsv5397369 1 23267814 23267865 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900105 M 3202 1 0 "" nsv4461406 1 23267860 23267861 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029403 M 10847 1 0 "" nsv6332715 1 23270110 23272564 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058543 M 19652 0 1 "" nsv4038092 1 23270694 23278566 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849395 M 10847 0 1 "" nsv6547290 1 23272073 23272566 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250328 M 19652 0 0 "" nsv4051587 1 23272649 23273099 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966109 M 10847 1 0 "" nsv6324404 1 23272672 23273061 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202749 M 19652 1 0 "" esv2504682 1 23276463 23277392 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5188949 M 1 1 0 "" NA18507 nsv4753174 1 23276899 23276899 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16292912 M 25 1 0 "" nsv3522626 1 23276940 23276940 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413805,nssv14438822,nssv14387019 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3940526 1 23276940 23276940 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190838 M 1 1 0 "" HG002 nsv4444870 1 23276940 23276940 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765349 M 1 1 0 "" nsv5613371 1 23276940 23276940 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063226 M 35 1 0 "" HG00731 nsv5956469 1 23276940 23276940 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351173 M 914 1 0 "" nsv6049174 1 23276940 23276940 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535794 M 405 1 0 "" esv3674638 1 23276940 23276941 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496378 M 20 0 0 "" nsv2801574 1 23276941 23276941 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13709026 M 2 1 0 "" nsv3322301 1 23276941 23276941 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14479699,nssv14478311,nssv14479492,nssv14484311,nssv14488309,nssv14473761,nssv14480986,nssv14485624,nssv14487164,nssv14472163,nssv14489680,nssv14481301,nssv14484893,nssv14482218 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3056787 1 23276944 23276944 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14018944 M 2 1 0 "" CHM1 esv1485438 1 23276947 23276947 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4125835 M 2 1 0 "" HuRef nsv6047710 1 23276947 23276947 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523825 M 405 1 0 "" nsv5869044 1 23279775 23279825 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353706 M 914 0 1 "" nsv4034580 1 23279776 23279826 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849396 M 10847 0 1 "" nsv5423893 1 23279776 23279826 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900108 M 3202 0 1 "" nsv4050681 1 23282575 23283079 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849397 M 10847 0 1 "" nsv5427027 1 23282622 23282766 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900109 M 3202 1 0 "" nsv4043806 1 23282622 23282785 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966110 M 10847 1 0 "" nsv6060116 1 23282628 23282628 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535122 M 405 1 0 "" nsv4050266 1 23284396 23284458 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849398 M 10847 0 1 "" nsv3112542 1 23290390 23294812 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14097344 M 467 0 1 "" sample140 nsv5982764 1 23290398 23296993 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532578 M 405 0 1 "" nsv4573102 1 23298304 23298305 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029423 M 10847 1 0 "" nsv6324472 1 23308867 23314975 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058566 M 19652 0 1 "" nsv819213 1 23311390 23338973 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418711 M 2 0 1 C1orf234 AK1 nsv6334021 1 23313242 23314714 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058567 M 19652 0 1 "" nsv6320423 1 23316866 23317385 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058572 M 19652 0 1 "" nsv5881856 1 23317417 23318367 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353859 M 914 0 1 "" nsv6054552 1 23318214 23318214 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518893 M 405 1 0 "" nsv6324278 1 23320177 23331828 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202757 M 19652 1 0 "" nsv6317710 1 23328807 23329361 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058580 M 19652 0 1 "" nsv4517578 1 23328813 23329361 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849399 M 10847 0 1 "" nsv4537595 1 23329679 23329680 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030757 M 10847 1 0 "" nsv6320534 1 23330081 23357105 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202349 M 19652 1 0 C1orf234,KDM1A nsv6542308 1 23331708 23332293 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250342 M 19652 0 0 "" nsv6326961 1 23334319 23336716 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202758 M 19652 1 0 "" nsv6328922 1 23339772 23341153 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058584 M 19652 0 1 C1orf234 nsv4032455 1 23339798 23341136 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849400 M 10847 0 1 C1orf234 nsv5694154 1 23343690 23343690 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17185062 M 3202 1 0 "" nsv6246091 1 23343690 23343690 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839238 M 1021 1 0 "" nsv6326703 1 23347015 23353377 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058589 M 19652 0 1 KDM1A nsv6551311 1 23351840 23352601 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250343 M 19652 0 0 KDM1A nsv5534622 1 23353628 23353628 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900110 M 3202 1 0 KDM1A nsv5948131 1 23353628 23353628 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17368601 M 914 1 0 KDM1A nsv6544936 1 23359541 23359987 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250346 M 19652 0 0 KDM1A nsv4516684 1 23360688 23360751 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966111 M 10847 1 0 KDM1A esv3425192 1 23372166 23372174 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863681 M 185 1 0 KDM1A NA12005 nsv6246202 1 23373650 23373650 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839239 M 1021 1 0 KDM1A nsv6329949 1 23374494 23375293 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058604 M 19652 0 1 KDM1A nsv4460393 1 23386121 23386122 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029437 M 10847 1 0 KDM1A nsv5684759 1 23391117 23391117 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17185551,nssv17205702 M 3202 2 0 KDM1A nsv5412493 1 23391117 23391168 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900113 M 3202 1 0 KDM1A nsv6042495 1 23391821 23391821 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536768 M 405 1 0 KDM1A nsv5415209 1 23401825 23402207 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683864 M 3202 1 0 KDM1A nsv4033326 1 23402102 23402195 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849402 M 10847 0 1 KDM1A nsv6326513 1 23403284 23423295 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202771 M 19652 1 0 KDM1A,LUZP1 nsv6520 1 23404369 23423046 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5396 M 9 1 0 KDM1A,LUZP1 NA19129 nsv6319457 1 23405847 23408442 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059365 M 19652 0 1 KDM1A nsv4051294 1 23410195 23410333 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849403 M 10847 0 1 "" esv3663991 1 23425932 23425932 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486796 M 20 1 0 LUZP1 nsv4558099 1 23429696 23443887 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789131 M 10847 0 0 LUZP1 nsv5682109 1 23431427 23431427 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17185913,nssv17205703 M 3202 2 0 LUZP1 nsv5402575 1 23431427 23431478 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900114 M 3202 1 0 LUZP1 nsv6329106 1 23433994 23437493 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059375 M 19652 0 1 LUZP1 nsv5880394 1 23434036 23437434 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358957 M 914 0 1 LUZP1 nsv5420080 1 23434041 23437435 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900115 M 3202 0 1 LUZP1 esv3585476 1 23434045 23437442 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889328,essv9889332,essv9889327,essv9889330,essv9889337,essv9889329,essv9889339,essv9889335,essv9889336,essv9889334,essv9889338,essv9889333,essv9889331 M 2504 0 13 LUZP1 HG02691,HG02694,HG03849,HG03858,HG03864,HG04022,HG04026,HG04118,HG04211,NA20881,NA21101,NA21107,NA21117 esv2745275 1 23434084 23437516 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6829012 M 96 0 1 LUZP1 SSM081 nsv5829478 1 23434105 23437441 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467629 M 914 0 0 LUZP1 nsv6319098 1 23435235 23435808 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059377 M 19652 0 1 LUZP1 nsv6331603 1 23435491 23440470 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059378 M 19652 0 1 LUZP1 nsv5427733 1 23437271 23438227 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900116 M 3202 0 1 LUZP1 nsv6329641 1 23437711 23438227 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059381 M 19652 0 1 LUZP1 nsv6319503 1 23444436 23449715 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059389 M 19652 0 1 LUZP1 nsv819728 1 23444732 23449173 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419637 M 2 0 1 LUZP1 AK1 nsv4047480 1 23448680 23452992 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849404 M 10847 0 1 LUZP1 nsv6545911 1 23454026 23454493 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250355 M 19652 0 0 LUZP1 nsv6542703 1 23457473 23458359 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250358 M 19652 0 0 LUZP1 nsv834424 1 23459404 23602702 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444051 M 95 0 1 HTR1D,LUZP1 nsv4035730 1 23465475 23465528 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849405 M 10847 0 1 LUZP1 nsv6334458 1 23466594 23469493 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059403 M 19652 0 1 LUZP1 nsv4050442 1 23466613 23469478 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849406 M 10847 0 1 LUZP1 nsv5428619 1 23466613 23469478 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900119 M 3202 0 1 LUZP1 nsv6553055 1 23471962 23473953 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250369 M 19652 0 0 LUZP1 nsv6542490 1 23472303 23473595 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250370 M 19652 0 0 LUZP1 esv3585477 1 23475194 23480093 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889340,essv9889343,essv9889341,essv9889342,essv9889344 M 2504 0 5 LUZP1 HG00171,HG00266,HG00284,HG00375,HG00378 nsv5566916 1 23475241 23480096 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063493 M 35 0 1 LUZP1 HG00171 esv2657917 1 23475241 23480097 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5401802,essv6554828,essv6335031,essv6296524 M 1151 0 4 LUZP1 HG00171,HG00266,HG00284,HG00375 nsv4040716 1 23475246 23480097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850564 M 10847 0 1 LUZP1 nsv5426264 1 23475246 23480097 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900120 M 3202 0 1 LUZP1 nsv6327341 1 23475246 23480097 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059405 M 19652 0 1 LUZP1 nsv4037528 1 23478465 23486456 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850565 M 10847 0 1 LUZP1 esv3585478 1 23479093 23481108 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889345 M 2504 0 1 LUZP1 HG02655 nsv5417790 1 23479145 23481074 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900121 M 3202 0 1 LUZP1 nsv5430343 1 23479595 23481436 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683865 M 3202 1 0 LUZP1 nsv5982997 1 23484287 23485140 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537237 M 405 0 1 LUZP1 nsv6330078 1 23484927 23486263 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202360 M 19652 1 0 LUZP1 nsv5983080 1 23485170 23485301 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535563 M 405 0 1 LUZP1 nsv6319482 1 23485826 23486323 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059409 M 19652 0 1 LUZP1 nsv6542923 1 23488403 23489173 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250380 M 19652 0 0 LUZP1 nsv1136069 1 23494200 23494900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989676 M 2 0 1 LUZP1 KWS2 nsv1118107 1 23494400 23495200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980326 M 2 0 1 LUZP1 KWS1 nsv1075737 1 23494699 23495700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769433 M 1 0 1 LUZP1 KWP1 nsv821976 1 23494701 23496410 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1429554 M 31 1 0 LUZP1 AK14 nsv4460399 1 23501120 23501121 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029446 M 10847 1 0 "" nsv6327537 1 23505495 23508319 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059420 M 19652 0 1 "" nsv6544681 1 23507001 23507928 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250381 M 19652 0 0 "" nsv4736133 1 23515645 23515710 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260872 M 25 0 1 "" nsv5884677 1 23515648 23515711 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349893 M 914 0 1 "" nsv4037630 1 23515648 23515712 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850566 M 10847 0 1 "" nsv5419732 1 23515648 23515712 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900124 M 3202 0 1 "" nsv5982920 1 23515648 23515712 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524274 M 405 0 1 "" nsv6317472 1 23517627 23523950 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058719 M 19652 0 1 HTR1D esv3664001 1 23519328 23519328 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486804 M 20 1 0 HTR1D nsv4049893 1 23519470 23521359 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850567 M 10847 0 1 HTR1D nsv6317216 1 23528212 23534170 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058721 M 19652 0 1 "" nsv4040580 1 23529585 23534503 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966112 M 10847 1 0 "" nsv4047980 1 23531000 23577000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966113 M 10847 1 0 "" nsv6539567 1 23539353 23539781 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248983 M 19652 0 0 "" nsv3115434 1 23547285 23557762 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14104697 M 467 0 1 "" sample51 nsv5983084 1 23550109 23550539 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521045 M 405 0 1 "" nsv5982867 1 23555108 23555160 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527985 M 405 0 1 "" nsv5829542 1 23555116 23561439 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463733,nssv17464889 M 914 0 0 "" nsv5829398 1 23556091 23567291 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452407 M 914 0 0 "" nsv5874854 1 23556115 23567347 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363984 M 914 0 1 "" nsv6329026 1 23558199 23566931 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058736 M 19652 0 1 "" nsv6326085 1 23561283 23562504 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058739 M 19652 0 1 "" nsv5433103 1 23562466 23563797 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900126 M 3202 0 1 "" nsv479944 1 23563770 23563770 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020457 M 9 0 0 "" nsv6326086 1 23563824 23565917 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058742 M 19652 0 1 "" nsv481230 1 23568640 23568640 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017604 M 9 0 0 "" nsv480038 1 23569522 23569522 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011032 M 9 0 0 "" nsv4034605 1 23569797 23569928 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850569 M 10847 0 1 "" nsv5720888 1 23570058 23570058 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17237704 M 3202 1 0 "" nsv4566965 1 23570058 23570059 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029465 M 10847 1 0 "" nsv5717111 1 23570072 23570072 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17246697 M 3202 1 0 "" nsv5561352 1 23570072 23570123 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900127 M 3202 1 0 "" nsv945824 1 23570447 23571760 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765178,nssv1765231,nssv1765185,nssv1765230,nssv1765260,nssv1765240,nssv1765184,nssv1765215,nssv1765177,nssv1765213,nssv1765176,nssv1765223,nssv1765190,nssv1765244,nssv1765206,nssv1765245,nssv1765180,nssv1765233,nssv1765252,nssv1765266,nssv1765211,nssv1765227,nssv1765195,nssv1765220,nssv1765199,nssv1765251,nssv1765256,nssv1765228,nssv1765193,nssv1765246,nssv1765209,nssv1765267,nssv1765257,nssv1765229,nssv1765208,nssv1765234,nssv1765210,nssv1765226,nssv1765261,nssv1765270,nssv1765204,nssv1765218,nssv1765254,nssv1765221,nssv1765192,nssv1765264,nssv1765258,nssv1765214,nssv1765201,nssv1765239,nssv1765188,nssv1765242,nssv1765189,nssv1765241,nssv1765182,nssv1765224,nssv1765207,nssv1765249,nssv1765255,nssv1765262,nssv1765194,nssv1765232,nssv1765191,nssv1765250,nssv1765202,nssv1765248,nssv1765179,nssv1765269,nssv1765200,nssv1765237,nssv1765183,nssv1765225,nssv1765186,nssv1765217,nssv1765175,nssv1765271,nssv1765197,nssv1765236,nssv1765205,nssv1765222,nssv1765198,nssv1765216,nssv1765212,nssv1765265,nssv1765187,nssv1765268,nssv1765253,nssv1765247,nssv1765203,nssv1765235,nssv1765259,nssv1765238,nssv1765181,nssv1765263,nssv1765196,nssv1765243,nssv1765219 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv475902 1 23571323 23571323 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011902 M 9 1 0 "" NA12878 nsv480771 1 23571976 23571976 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016100 M 9 0 0 "" nsv480819 1 23572878 23572878 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017381 M 9 0 0 "" nsv6318593 1 23580594 23585693 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058745 M 19652 0 1 "" nsv3170741 1 23582178 23582440 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413806 M 9 0 0 "" HG00514 nsv4042981 1 23584216 23584404 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850570 M 10847 0 1 "" nsv5570961 1 23584222 23584348 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062924 M 35 0 1 "" NA19238 nsv3196893 1 23584222 23584349 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355032 M 9 0 1 "" NA19240 nsv3273943 1 23584229 23584356 CNV sva deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14383513 M 9 0 1 "" NA19240 nsv3322791 1 23584236 23584362 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14814385 M 14 0 1 "" NA19240 nsv5982871 1 23584237 23584363 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525615 M 405 0 1 "" nsv5882993 1 23585482 23585798 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351711 M 914 0 1 "" nsv4048599 1 23590712 23590774 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850571 M 10847 0 1 "" nsv6325385 1 23592013 23593966 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202365 M 19652 1 0 "" nsv6631 1 23593894 23612773 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv964,nssv3974,nssv6423,nssv9804,nssv1966,nssv5405,nssv10760 M 9 7 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 nsv6316462 1 23594621 23595305 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202367 M 19652 1 0 "" esv2673893 1 23595429 23595912 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6595907 M 1151 0 1 "" NA19102 nsv5432424 1 23595524 23595945 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900128 M 3202 0 1 "" nsv5829485 1 23595788 23597366 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469450 M 914 0 0 "" esv3585479 1 23595926 23597205 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889347,essv9889355,essv9889346,essv9889356,essv9889348,essv9889354,essv9889349,essv9889357,essv9889353,essv9889352,essv9889351,essv9889350 M 2504 0 12 "" HG00406,HG00410,HG00442,HG00614,HG00625,HG00692,HG00978,HG00982,HG01816,HG02073,HG02374,HG02401 nsv5426650 1 23595955 23597379 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900129 M 3202 0 1 "" nsv5557035 1 23595968 23597738 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900130 M 3202 0 0 "" nsv4568387 1 23595987 23597738 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789139 M 10847 0 0 "" nsv5982923 1 23596057 23597299 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521541 M 405 0 1 "" esv2678093 1 23596104 23597377 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5575699,essv5651735 M 1151 0 2 "" HG00442,HG00692 nsv6552130 1 23597128 23597838 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250641 M 19652 0 0 "" nsv1137741 1 23597319 23597379 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990248 M 2 0 1 "" KWS2 nsv509047 1 23597965 23616571 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv617990,nssv621087,nssv619782,nssv623777 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv5829543 1 23598467 23600466 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466950 M 914 0 0 "" nsv5876427 1 23598471 23600449 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362353 M 914 0 1 "" nsv3218807 1 23602659 23608599 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14260666,nssv14260660,nssv14260662,nssv14260667,nssv14260661,nssv14260668,nssv14260665,nssv14260664,nssv14260663 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv1003688 1 23603136 23604264 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564590 M 3 1 0 "" HuRef nsv4444871 1 23603556 23603556 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761639 M 1 1 0 "" dgv140n152 1 23603760 23611237 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3173487,nsv3180165,nsv3187640 M 9 0 0 "" HG00514,HG00733,NA19240 nsv3954208 1 23603765 23603765 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190850,nssv15190851 M 1 1 0 "" HG002 nsv5622275 1 23603765 23603765 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17062935 M 35 1 0 "" HG00731 nsv6059448 1 23603765 23603765 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530202 M 405 1 0 "" esv3674644 1 23603765 23603766 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496383 M 20 0 0 "" nsv2800698 1 23603766 23603766 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683071,nssv13683880 M 2 2 0 "" nsv3322792 1 23603766 23603766 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474528,nssv14490710,nssv14488320,nssv14481234,nssv14483850,nssv14487535,nssv14473442,nssv14481196,nssv14481826,nssv14485702,nssv14484673,nssv14473852,nssv14485642,nssv14477045 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv6054404 1 23603832 23603832 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526540 M 405 1 0 "" nsv6326087 1 23617464 23618051 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058771 M 19652 0 1 "" nsv5729956 1 23618777 23618777 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236316 M 3202 1 0 "" nsv5557229 1 23618777 23618828 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900132 M 3202 1 0 "" nsv6546914 1 23619868 23620221 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250645 M 19652 0 0 "" nsv6540147 1 23624107 23624518 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250646 M 19652 0 0 "" nsv5415940 1 23624598 23625127 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900133 M 3202 0 1 "" nsv6555401 1 23626468 23626788 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250647 M 19652 0 0 "" nsv6322367 1 23631094 23632493 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058774 M 19652 0 1 "" nsv6318055 1 23633923 23634714 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058778 M 19652 0 1 "" nsv6326352 1 23634311 23635123 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058780 M 19652 0 1 "" nsv6328301 1 23634772 23635286 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058781 M 19652 0 1 "" nsv6325976 1 23635481 23636027 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058782 M 19652 0 1 "" nsv6326976 1 23638932 23639554 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058784 M 19652 0 1 HNRNPR nsv5829488 1 23642141 23644140 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456077 M 914 0 0 HNRNPR nsv4460736 1 23643076 23643077 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029485 M 10847 1 0 HNRNPR nsv5417857 1 23650793 23651365 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900135 M 3202 0 1 HNRNPR nsv6044578 1 23650905 23650905 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533118 M 405 1 0 HNRNPR nsv6334173 1 23651461 23656825 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058797 M 19652 0 1 HNRNPR nsv5883883 1 23651579 23652906 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350786 M 914 0 1 HNRNPR nsv4390891 1 23651580 23652907 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15705404 M 174 0 1 HNRNPR nsv5829248 1 23651585 23652915 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464131 M 914 0 0 HNRNPR nsv4043894 1 23658305 23658360 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850572 M 10847 0 1 HNRNPR nsv6543442 1 23659180 23660586 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250654 M 19652 0 0 HNRNPR nsv5882200 1 23660832 23661562 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368927 M 914 0 1 HNRNPR nsv5425004 1 23660852 23661609 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900136 M 3202 0 1 HNRNPR nsv4517914 1 23660875 23661595 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966114 M 10847 1 0 HNRNPR nsv6542002 1 23661417 23662536 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250655 M 19652 0 0 HNRNPR nsv5429511 1 23663789 23663889 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900137 M 3202 0 1 HNRNPR nsv6319725 1 23669794 23672693 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058993 M 19652 0 1 HNRNPR nsv6554944 1 23676534 23677250 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250658 M 19652 0 0 "" nsv6550572 1 23676836 23677102 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250659 M 19652 0 0 "" nsv5417106 1 23677105 23680491 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900138 M 3202 0 1 "" esv2673750 1 23677121 23680537 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5855109 M 1151 0 1 "" NA19921 nsv4039985 1 23677161 23680491 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850573 M 10847 0 1 "" esv3585480 1 23677175 23680492 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889358 M 2504 0 1 "" NA19921 nsv6332502 1 23677220 23680479 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058997 M 19652 0 1 "" nsv4052304 1 23678419 23679506 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850574 M 10847 0 1 "" nsv5982925 1 23678852 23679432 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532696 M 405 0 1 "" nsv6540073 1 23681560 23682180 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250661 M 19652 0 0 "" nsv6543469 1 23681778 23681964 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250662 M 19652 0 0 "" nsv6317800 1 23696093 23699247 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059010 M 19652 0 1 C1orf213,ZNF436 nsv525446 1 23696152 23701312 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv701574 M 2026 1 0 C1orf213,ZNF436 nsv5693315 1 23697407 23697407 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205704 M 3202 1 0 C1orf213 nsv5405756 1 23697407 23697458 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900140 M 3202 1 0 C1orf213 nsv6257487 1 23698951 23698951 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17839258 M 1021 1 0 "" nsv6051486 1 23704380 23704380 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535462 M 405 1 0 "" nsv5416641 1 23705884 23706198 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900141 M 3202 0 1 "" nsv4534731 1 23707198 23707199 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029493 M 10847 1 0 "" nsv4517294 1 23707240 23707299 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966115 M 10847 1 0 "" nsv5430733 1 23707240 23707299 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900142 M 3202 1 0 "" nsv521882 1 23710475 23714665 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv694653 M 2026 0 1 TCEA3 nsv6317492 1 23711282 23714737 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059027 M 19652 0 1 TCEA3 nsv4535936 1 23712898 23712899 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029510 M 10847 1 0 TCEA3 nsv6331492 1 23713555 23718922 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059028 M 19652 0 1 TCEA3 nsv5420165 1 23716036 23716627 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900144 M 3202 1 0 TCEA3 nsv6325912 1 23716058 23716889 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202380 M 19652 1 0 TCEA3 nsv3223414 1 23716491 23720291 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261632,nssv14261636,nssv14261630,nssv14261631,nssv14261634,nssv14261629,nssv14261637,nssv14261633,nssv14261635 M 9 9 0 TCEA3 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5960782 1 23718576 23718576 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361903 M 914 1 0 TCEA3 nsv4460921 1 23718576 23718577 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029517 M 10847 1 0 TCEA3 esv2745286 1 23718590 23719359 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6839983,essv6784999,essv6902547,essv6793300,essv6710595,essv6729632,essv6714253,essv6954759,essv6707275,essv6769529,essv6686159,essv6773445,essv6689271,essv6950570,essv6679182 M 96 0 15 TCEA3 SSM013,SSM025,SSM026,SSM033,SSM035,SSM036,SSM041,SSM042,SSM043,SSM047,SSM065,SSM066,SSM069,SSM071,SSM084 nsv512726 1 23718769 23719127 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625351 M 1 1 0 TCEA3 1 nsv1154147 1 23718771 23718855 CNV insertion John_et_al_2014 26484159 Sequencing nssv4003424 M 1 1 0 TCEA3 KWB1 nsv3194709 1 23718832 23719166 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355705,nssv14355707,nssv14355708,nssv14355704,nssv14355706,nssv14355711,nssv14355710,nssv14355712,nssv14355709 M 9 9 0 TCEA3 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv1125457 1 23718836 23718901 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983631 M 2 1 0 TCEA3 KWS2 nsv6053352 1 23718847 23718847 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518168 M 405 1 0 TCEA3 esv9540 1 23718851 23719182 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31981 M 1 0 0 TCEA3 nsv6326678 1 23718853 23719185 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202382 M 19652 1 0 TCEA3 nsv2800701 1 23718859 23718859 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688608,nssv13689838 M 2 2 0 TCEA3 nsv3321905 1 23718859 23718859 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484816,nssv14488536,nssv14481851,nssv14483914,nssv14486211,nssv14484076,nssv14491018,nssv14491130,nssv14475800,nssv14481069,nssv14483907,nssv14474082,nssv14487946,nssv14490351 M 14 14 0 TCEA3 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv2558689 1 23718859 23719060 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5285756 M 1 0 1 TCEA3 NA18507 nsv5982929 1 23718871 23719282 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17518709 M 405 1 0 TCEA3 nsv3533646 1 23718883 23718883 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385006,nssv14413808,nssv14438825 M 9 3 0 TCEA3 HG00514,HG00733,NA19240 nsv5622847 1 23718898 23718898 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063271 M 35 1 0 TCEA3 HG00731 nsv5679198 1 23718901 23718901 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17185117 M 3202 1 0 TCEA3 nsv1137233 1 23718936 23719045 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975925 M 2 0 1 TCEA3 KWS1 nsv3943530 1 23718938 23718938 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190852 M 1 1 0 TCEA3 HG002 nsv5615110 1 23718938 23718938 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063272 M 35 1 0 TCEA3 HG00731 nsv5958093 1 23718938 23718938 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366796 M 914 1 0 TCEA3 nsv6049835 1 23718938 23718938 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524181 M 405 1 0 TCEA3 nsv1133127 1 23718938 23719135 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987947 M 2 1 0 TCEA3 KWS1 nsv2801327 1 23718939 23718939 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13709733 M 2 1 0 TCEA3 nsv3321906 1 23718939 23718939 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474143,nssv14482115,nssv14482091,nssv14479584,nssv14482138,nssv14484679,nssv14482102,nssv14487896,nssv14486839,nssv14473797,nssv14477823,nssv14479152,nssv14478729,nssv14479392 M 14 14 0 TCEA3 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3542584 1 23718944 23718944 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382901,nssv14413809,nssv14438826 M 9 3 0 TCEA3 HG00514,HG00733,NA19240 nsv1148896 1 23718949 23719046 CNV deletion John_et_al_2014 26484159 Sequencing nssv3997682 M 1 0 1 TCEA3 KWB1 nsv4517773 1 23725505 23725666 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850575 M 10847 0 1 TCEA3 nsv6053953 1 23725637 23725637 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522836 M 405 1 0 TCEA3 nsv6059032 1 23726890 23726890 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536331 M 405 1 0 TCEA3 nsv5873560 1 23731178 23731815 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17351181 M 914 1 0 TCEA3 nsv5427006 1 23731178 23731850 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900146 M 3202 1 0 TCEA3 nsv5606223 1 23731539 23731539 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063276 M 35 1 0 TCEA3 HG03009 nsv6321270 1 23733402 23734655 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059039 M 19652 0 1 TCEA3 nsv6335569 1 23734730 23740858 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202383 M 19652 1 0 TCEA3 esv2745297 1 23736126 23737866 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6871724,essv6764171,essv6874717,essv6744945,essv6710596,essv6789161,essv6950307,essv6733492,essv6718998 M 96 0 9 TCEA3 SSM004,SSM007,SSM042,SSM049,SSM055,SSM063,SSM070,SSM091,SSM092 nsv5829491 1 23736134 23737783 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466084 M 914 0 0 TCEA3 nsv5886321 1 23736151 23737759 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362922 M 914 0 1 TCEA3 esv2661255 1 23736151 23737760 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5458396,essv6059235,essv6264187,essv5850968,essv6307122,essv6266818,essv5805488,essv6234199,essv6294880,essv6030979,essv5544839,essv6018205,essv5518126,essv6354537,essv6342006,essv5480655,essv6037789,essv5810948,essv5790002,essv6328250,essv6396350,essv5491669,essv6570160,essv5744840,essv5586828,essv6038526,essv5702593,essv6199177,essv5543867,essv6357101,essv5806711,essv5568567,essv6226673,essv6500360,essv5561803,essv6358225,essv5575981,essv6008967,essv5881841,essv6293220 M 1151 0 40 TCEA3 HG00403,HG00442,HG00449,HG00478,HG00500,HG00557,HG00584,HG00593,HG00595,HG00607,HG00613,HG00614,HG00619,HG00628,HG00635,HG00657,HG00662,HG00683,HG00684,HG00699,HG00701,HG00708,NA18544,NA18546,NA18550,NA18560,NA18612,NA18631,NA18632,NA18634,NA18635,NA18637,NA18940,NA18977,NA18999,NA19012,NA19070,NA19074,NA19075,NA19082 nsv5982876 1 23736151 23737760 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528437 M 405 0 1 TCEA3 esv3585482 1 23736160 23737780 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889460,essv9889444,essv9889466,essv9889430,essv9889419,essv9889455,essv9889436,essv9889406,essv9889480,essv9889429,essv9889415,essv9889471,essv9889443,essv9889413,essv9889453,essv9889432,essv9889414,essv9889474,essv9889441,essv9889417,essv9889462,essv9889437,essv9889409,essv9889475,essv9889440,essv9889425,essv9889458,essv9889431,essv9889407,essv9889476,essv9889434,essv9889410,essv9889463,essv9889442,essv9889427,essv9889477,essv9889438,essv9889408,essv9889464,essv9889435,essv9889426,essv9889461,essv9889439,essv9889411,essv9889452,essv9889433,essv9889416,essv9889467,essv9889428,essv9889424,essv9889451,essv9889421,essv9889468,essv9889423,essv9889473,essv9889420,essv9889478,essv9889422,essv9889457,essv9889412,essv9889456,essv9889418,essv9889454,essv9889445,essv9889465,essv9889450,essv9889459,essv9889447,essv9889469,essv9889449,essv9889470,essv9889448,essv9889479,essv9889446,essv9889472,essv9889400,essv9889403,essv9889402,essv9889401,essv9889404,essv9889405 M 2504 0 81 TCEA3 HG00407,HG00409,HG00442,HG00449,HG00451,HG00452,HG00478,HG00557,HG00584,HG00593,HG00595,HG00607,HG00613,HG00614,HG00619,HG00628,HG00631,HG00657,HG00683,HG00684,HG00699,HG00701,HG00708,HG00759,HG00766,HG00844,HG01028,HG01031,HG01806,HG01811,HG01812,HG01813,HG01840,HG01852,HG01862,HG02025,HG02064,HG02076,HG02084,HG02113,HG02165,HG02188,HG02396,HG02407,HG02521,HG03643,HG03796,HG04152,HG04171,HG04182,HG04229,NA18544,NA18546,NA18547,NA18550,NA18560,NA18573,NA18582,NA18592,NA18612,NA18625,NA18629,NA18631,NA18632,NA18634,NA18635,NA18637,NA18641,NA18644,NA18646,NA18740,NA18940,NA18956,NA18991,NA18992,NA18999,NA19012,NA19070,NA19074,NA19075,NA19082 dgv37n166 1 23736164 23737760 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4045697,nsv4051220 M 10847 0 2 TCEA3 nsv4746980 1 23736172 23737782 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281354 M 25 0 1 TCEA3 nsv6334723 1 23736185 23737737 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059042 M 19652 0 1 TCEA3 nsv4433076 1 23736186 23737760 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15749251 M 15 0 1 TCEA3 NB10 nsv5420300 1 23736211 23737718 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900147 M 3202 0 1 TCEA3 nsv6318614 1 23736306 23744993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059044 M 19652 0 1 TCEA3 dgv28n67 1 23736482 23737751 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv821998,nsv821987 M 31 0 7 TCEA3 AK16,AK18,AK4,NA18547,NA18582,NA18592,NA18999 nsv6537287 1 23738892 23739667 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250667 M 19652 0 0 TCEA3 nsv5983006 1 23739969 23744849 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17522339 M 405 1 0 TCEA3 nsv4042492 1 23740395 23740499 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850579 M 10847 0 1 TCEA3 nsv6056709 1 23740910 23740910 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520607 M 405 1 0 TCEA3 nsv4051750 1 23751626 23751719 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850580 M 10847 0 1 "" nsv5415990 1 23751626 23751744 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900148 M 3202 0 1 "" nsv4327167 1 23755370 23755862 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789142 M 10847 0 0 ASAP3 nsv5719221 1 23762007 23762007 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17250116,nssv17246450 M 3202 2 0 ASAP3 esv3585483 1 23767649 23769754 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889481 M 2504 0 1 ASAP3 NA18939 nsv5583849 1 23767729 23769741 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063298 M 35 0 1 ASAP3 NA18939 nsv4039765 1 23767729 23769742 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850581 M 10847 0 1 ASAP3 nsv5427911 1 23767729 23769742 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900149 M 3202 0 1 ASAP3 nsv4033628 1 23778836 23789411 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850582 M 10847 0 1 ASAP3 esv3664018 1 23780681 23780681 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486820 M 20 1 0 ASAP3 esv3326511 1 23782065 23783963 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692194 M 185 1 0 ASAP3 NA19239 nsv6333004 1 23790528 23797850 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058815 M 19652 0 1 ASAP3 nsv4042309 1 23790529 23794657 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850583 M 10847 0 1 ASAP3 nsv4037986 1 23790539 23797850 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850584 M 10847 0 1 ASAP3 nsv4045201 1 23794749 23797850 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850585 M 10847 0 1 ASAP3 nsv4460928 1 23794863 23794864 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029527 M 10847 1 0 ASAP3 esv3664028 1 23795363 23795363 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486829 M 20 1 0 ASAP3 nsv834435 1 23799462 23977931 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444062,nssv1444074 M 95 0 2 ASAP3,E2F2,ID3,MDS2 nsv6330947 1 23800647 23803592 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058821 M 19652 0 1 ASAP3 nsv4050682 1 23804817 23804933 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850586 M 10847 0 1 ASAP3 nsv5616982 1 23805668 23805668 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063568 M 35 1 0 ASAP3 HG02587 nsv5623706 1 23807680 23807680 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063569 M 35 1 0 ASAP3 HG02587 nsv819574 1 23809640 23811315 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419305 M 2 1 0 ASAP3 AK1 nsv1130950 1 23809800 23812300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967648 M 2 0 1 ASAP3 KWS2 nsv1075332 1 23810399 23811400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772872 M 1 0 1 ASAP3 KWP1 nsv5730458 1 23811878 23811878 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17248668 M 3202 1 0 "" nsv4566623 1 23811878 23811879 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029536 M 10847 1 0 "" nsv6054689 1 23811887 23811887 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519482 M 405 1 0 "" nsv5884290 1 23817112 23817165 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354493 M 914 0 1 "" nsv5829549 1 23819833 23824418 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468155 M 914 0 0 "" nsv5885582 1 23820008 23827571 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358586 M 914 0 1 "" nsv3561800 1 23821714 23821714 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355742,nssv14355741,nssv14355744,nssv14355740,nssv14355743,nssv14355739 M 9 6 0 "" HG00512,HG00513,HG00514,HG00732,NA19239,NA19240 esv3413244 1 23821715 23821715 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8823867 M 185 1 0 "" NA12878 nsv3056791 1 23821716 23821716 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14027794 M 2 1 0 "" CHM1 esv3670936 1 23821722 23821722 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493047 M 20 1 0 "" nsv3536767 1 23821722 23821722 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391596,nssv14413810,nssv14440505 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3943182 1 23821722 23821722 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190853 M 1 1 0 "" HG002 nsv4444935 1 23821722 23821722 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766619 M 1 1 0 "" nsv5624334 1 23821722 23821722 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063574 M 35 1 0 "" HG00731 nsv5967211 1 23821722 23821722 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17364349 M 914 1 0 "" nsv6059666 1 23821722 23821722 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528901 M 405 1 0 "" nsv2801330 1 23821723 23821723 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13708780 M 2 1 0 "" nsv3056118 1 23821723 23821723 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14023126 M 2 1 0 "" NA12878 nsv3322372 1 23821723 23821723 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484944,nssv14476713,nssv14473167,nssv14487433,nssv14487035,nssv14482046,nssv14474765,nssv14485229,nssv14489292,nssv14491347,nssv14472538,nssv14491917,nssv14476776 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19240,NA19434 nsv4755492 1 23821734 23821734 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288107 M 25 1 0 "" esv3417759 1 23821737 23821737 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8638759 M 185 0 0 "" esv1790599 1 23821744 23821744 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3794850 M 2 1 0 "" HuRef nsv5535416 1 23821744 23821773 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900150 M 3202 1 0 "" nsv5962188 1 23824634 23824634 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363007 M 914 1 0 "" esv3664042 1 23827820 23827820 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486841 M 20 1 0 "" nsv5874988 1 23830177 23830292 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353170 M 914 0 1 "" nsv6317014 1 23830291 23832876 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058835 M 19652 0 1 "" nsv5579850 1 23830554 23830633 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063580 M 35 0 1 "" HG03486 nsv5982932 1 23830589 23830667 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536079 M 405 0 1 "" nsv5972179 1 23831504 23831593 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17359893 M 914 0 0 "" nsv4040095 1 23832777 23833022 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850587 M 10847 0 1 E2F2 nsv5875435 1 23835270 23835333 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352602 M 914 0 1 E2F2 nsv4035157 1 23835272 23835334 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850588 M 10847 0 1 E2F2 nsv5418897 1 23835272 23835334 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900151 M 3202 0 1 E2F2 nsv4051165 1 23840511 23840645 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850589 M 10847 0 1 E2F2 nsv6326630 1 23844404 23844725 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202414 M 19652 1 0 E2F2 nsv6334923 1 23846572 23861108 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202416 M 19652 1 0 E2F2 nsv4047236 1 23847000 23861000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966116 M 10847 1 0 E2F2 nsv4460749 1 23849270 23849271 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029553 M 10847 1 0 E2F2 nsv5679021 1 23850583 23850583 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205705,nssv17185931 M 3202 2 0 E2F2 nsv5954837 1 23850583 23850583 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361841 M 914 1 0 E2F2 nsv6246415 1 23850583 23850583 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17840172 M 1021 1 0 E2F2 esv3417141 1 23850598 23850605 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863682 M 185 1 0 E2F2 NA12005 esv3664049 1 23857742 23857742 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486848 M 20 1 0 "" esv2745308 1 23858109 23858592 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6916795 M 96 0 1 "" SSM003 nsv5883330 1 23858341 23858403 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355711 M 914 0 1 "" nsv4034711 1 23858341 23858404 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850590 M 10847 0 1 "" nsv5423285 1 23858341 23858404 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900152 M 3202 0 1 "" nsv5983097 1 23858341 23858404 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525421 M 405 0 1 "" nsv6332234 1 23863719 23865770 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058859 M 19652 0 1 "" nsv6257500 1 23864221 23864221 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17840183 M 1021 1 0 "" nsv4517510 1 23864561 23865292 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966117 M 10847 1 0 "" esv3664057 1 23865295 23865295 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486855 M 20 1 0 "" nsv5428304 1 23865501 23865554 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900153 M 3202 0 1 "" esv2659031 1 23867341 23875011 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5618619 M 1151 0 1 "" HG00536 esv3585484 1 23867350 23875071 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889482,essv9889484,essv9889483 M 2504 0 3 "" HG00536,HG01841,HG02164 nsv4033221 1 23867474 23874962 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850591 M 10847 0 1 "" nsv5423069 1 23867488 23874962 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900154 M 3202 0 1 "" nsv5982937 1 23867518 23874933 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532378 M 405 0 1 "" nsv6334953 1 23867956 23876776 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058862 M 19652 0 1 "" esv3674651 1 23868351 23868487 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496390 M 20 0 0 "" nsv5885981 1 23868437 23868761 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362633 M 914 0 1 "" nsv4460931 1 23871434 23871435 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030124 M 10847 1 0 "" nsv5677855 1 23871449 23871449 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17186270 M 3202 1 0 "" nsv5408877 1 23871449 23871500 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900156 M 3202 1 0 "" nsv4567411 1 23872220 23872221 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030133 M 10847 1 0 "" nsv4041289 1 23881924 23882368 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850592 M 10847 0 1 "" nsv4043434 1 23882235 23882303 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850593 M 10847 0 1 "" nsv160295 1 23891060 23895251 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178873 M 24 "" nsv6335504 1 23894191 23894990 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058881 M 19652 0 1 "" nsv6542205 1 23898050 23898688 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250729 M 19652 0 0 "" nsv5877981 1 23908344 23909034 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351712 M 914 0 1 "" esv3585485 1 23908383 23909675 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9889488,essv9889487,essv9889489,essv9889485,essv9889486 M 2504 0 5 "" HG02725,HG02787,HG03015,HG03773,HG03786 nsv5871388 1 23908394 23909680 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355807 M 914 0 1 "" nsv5426422 1 23908397 23909681 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900158 M 3202 0 1 "" nsv4517750 1 23908406 23909083 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966118 M 10847 1 0 "" nsv6316046 1 23908424 23909125 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201870 M 19652 1 0 "" esv3667062 1 23908517 23908569 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489560 M 20 0 0 "" nsv5433263 1 23908691 23908799 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900159 M 3202 1 0 "" nsv6536881 1 23910298 23910924 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250736 M 19652 0 0 "" nsv5424665 1 23916303 23917691 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900160 M 3202 1 0 "" nsv5418367 1 23921776 23921826 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900161 M 3202 0 1 "" nsv4039698 1 23925215 23935230 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850595 M 10847 0 1 "" nsv460840 1 23937261 23988361 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537340 M 1557 0 1 MDS2 1780862162_A nsv545774 1 23937261 23988361 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173799 M 17421 0 1 MDS2 1780862162_A nsv5872134 1 23944749 23949469 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353476 M 914 0 1 "" nsv5829555 1 23944763 23949496 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456583 M 914 0 0 "" nsv4571726 1 23944826 23944827 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029793 M 10847 1 0 "" nsv5829494 1 23945263 23946396 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468759,nssv17462500 M 914 0 0 "" nsv6316934 1 23945891 23946390 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058914 M 19652 0 1 "" nsv6049876 1 23947573 23947573 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529256 M 405 1 0 "" nsv5964769 1 23947945 23947945 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351473 M 914 1 0 "" nsv4460758 1 23947945 23947946 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029801 M 10847 1 0 "" nsv5400386 1 23947953 23948004 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900164 M 3202 1 0 "" nsv4044503 1 23949792 23950551 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966119 M 10847 1 0 "" nsv6323182 1 23951058 23951857 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058920 M 19652 0 1 "" nsv6318991 1 23951408 23954988 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202467 M 19652 1 0 MDS2 nsv4052057 1 23952852 23952916 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966120 M 10847 1 0 "" nsv5425328 1 23952852 23952916 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900165 M 3202 1 0 "" nsv4042619 1 23953138 23954748 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850596 M 10847 0 1 MDS2 nsv6332027 1 23953138 23954748 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058922 M 19652 0 1 MDS2 nsv6320865 1 23954766 23955052 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058926 M 19652 0 1 MDS2 nsv6323549 1 23954958 23962461 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058927 M 19652 0 1 MDS2 nsv4033838 1 23955629 23958381 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850597 M 10847 0 1 MDS2 dgv25e212 1 23957771 23960107 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577786,esv3577787 M 873 0 35 MDS2 400191MP,400198MD,400201PK,400203NA,400206SC,400241CP,400270BD,400271SR,400496BL,400503HD,400506GN,400512LR,400528LR,400599CP,400674CA,400686BM,400758KP,400987FB,400995MS,401105WS,401152MV,401177SL,401198TI,401380OL,401489CB,401504RJ,401563TK,401640WJ,401646MC,401858TP,401873BK,401894PD,401939GD,401952UH,402029KJ esv275297 1 23957771 23960856 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585424 M 1250 0 1 MDS2 nsv4039172 1 23960406 23960523 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850598 M 10847 0 1 MDS2 nsv6318404 1 23961719 23965615 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058932 M 19652 0 1 MDS2 nsv4039137 1 23961721 23965615 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850599 M 10847 0 1 MDS2 nsv5982944 1 23969034 23969340 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528053 M 405 0 1 "" nsv6321092 1 23974944 23975524 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058942 M 19652 0 1 "" nsv4034547 1 23975972 23978600 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966121 M 10847 1 0 "" nsv5884645 1 23979426 23999508 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362261 M 914 0 1 "" nsv4048240 1 23979457 23999498 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850600 M 10847 0 1 "" nsv5829411 1 23980022 23985940 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458506 M 914 0 0 "" esv3664071 1 23980025 23980025 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486868 M 20 1 0 "" nsv4040350 1 23980935 23986872 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850601 M 10847 0 1 "" nsv4559555 1 23981040 23981041 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789143 M 10847 0 0 "" esv3303493 1 23981122 23981123 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7767723,essv7767072,essv7764690,essv7766407,essv7763444,essv7768115,essv7768890,essv7765382 M 185 8 0 "" NA07347,NA11918,NA12234,NA12249,NA12287,NA12878,NA12891,NA12892 esv3309057 1 23981124 23981125 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7839894,essv7840539,essv7841153 M 185 3 0 "" NA12878,NA12891,NA12892 esv3664077 1 23981127 23981127 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486873 M 20 1 0 "" nsv3944369 1 23981127 23981127 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190855 M 1 1 0 "" HG002 nsv4444936 1 23981127 23981127 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759884 M 1 1 0 "" nsv5542001 1 23981127 23981127 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900166 M 3202 1 0 "" nsv5612443 1 23981127 23981127 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063123 M 35 1 0 "" NA24385 nsv5955393 1 23981127 23981127 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366245 M 914 1 0 "" nsv4535889 1 23981127 23981128 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029829 M 10847 1 0 "" nsv2800709 1 23981128 23981128 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679626 M 2 1 0 "" nsv3322357 1 23981128 23981128 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14483016,nssv14481641 M 14 2 0 "" CHM13,NA12878 esv3430049 1 23981131 23981141 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8673982,essv8673984,essv8673983 M 185 3 0 "" NA12878,NA12891,NA12892 nsv3064082 1 23981133 23981133 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14036592 M 2 1 0 "" NA12878 nsv6043875 1 23981136 23981136 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526893 M 405 1 0 "" nsv5683146 1 23981142 23981142 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205706,nssv17186507 M 3202 2 0 "" nsv6257512 1 23981142 23981142 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17840194 M 1021 1 0 "" nsv6321900 1 23981776 23982711 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058946 M 19652 0 1 "" nsv3322391 1 23990551 23990609 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474613 M 14 0 1 "" HG00514 nsv5953621 1 23990648 23990648 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357764 M 914 1 0 "" nsv4034098 1 23992222 24007448 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850602 M 10847 0 1 "" nsv5430284 1 23994650 23994713 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683866 M 3202 0 1 "" nsv6324053 1 23994779 23995497 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202480 M 19652 1 0 "" nsv1076277 1 23995299 23996100 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763997 M 1 0 1 "" KWP1 nsv1142755 1 23995500 23996100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994255 M 2 0 1 "" KWS1 esv3585487 1 23997419 23997721 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890046 M 2504 0 1 "" NA19679 nsv5829560 1 23997468 23998867 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451317 M 914 0 0 "" nsv4461451 1 23999618 23999619 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029839 M 10847 1 0 "" nsv6329357 1 24001958 24006346 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058951 M 19652 0 1 "" nsv1144361 1 24002100 24002156 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995114 M 2 0 1 "" KWS1 nsv160080 1 24003478 24006906 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178658 M 24 "" nsv5426366 1 24005654 24011397 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683867 M 3202 0 1 "" nsv6331036 1 24005654 24011397 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058952 M 19652 0 1 "" esv3585488 1 24005686 24011479 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890047 M 2504 0 1 "" HG01694 nsv6540367 1 24005776 24006319 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250780 M 19652 0 0 "" nsv5983110 1 24006395 24006463 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521579 M 405 0 1 "" nsv5714669 1 24008378 24008378 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17250834,nssv17245893 M 3202 2 0 "" nsv5885598 1 24011147 24015059 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354992 M 914 0 1 "" nsv5414324 1 24011150 24015060 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683868 M 3202 0 1 "" nsv6324332 1 24011709 24013948 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058954 M 19652 0 1 "" nsv5429998 1 24012135 24014002 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900168 M 3202 0 1 "" nsv5829561 1 24012948 24015047 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460018 M 914 0 0 "" nsv4047720 1 24013597 24013715 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850603 M 10847 0 1 "" nsv4040937 1 24015074 24015610 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850604 M 10847 0 1 "" nsv5869034 1 24015224 24015496 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354488 M 914 0 1 "" nsv4047981 1 24015248 24015497 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850605 M 10847 0 1 "" nsv4738293 1 24015562 24015614 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16287939 M 25 0 1 "" nsv5983022 1 24015586 24015638 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522304 M 405 0 1 "" nsv4566627 1 24016282 24016283 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029850 M 10847 1 0 "" esv3585489 1 24028325 24033753 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890051,essv9890056,essv9890050,essv9890057,essv9890055,essv9890049,essv9890048,essv9890052,essv9890053,essv9890054 M 2504 0 10 "" HG03772,HG03874,HG03973,HG04093,HG04146,HG04161,HG04162,HG04229,NA20867,NA21098 nsv5421486 1 24028349 24033771 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900169 M 3202 0 1 "" nsv5829502 1 24028375 24029793 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452095 M 914 0 0 "" nsv5882718 1 24028385 24033855 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352069 M 914 0 1 "" nsv3321930 1 24030146 24030231 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481633,nssv14491187 M 14 0 2 "" HG02106,NA19434 nsv3208702 1 24030167 24030267 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355771 M 9 0 1 "" NA19238 nsv4752098 1 24030179 24030179 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16292538 M 25 1 0 "" nsv5617312 1 24030180 24030180 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063324 M 35 1 0 "" NA20509 nsv5578311 1 24030192 24030266 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063325 M 35 0 1 "" NA19238 nsv3531922 1 24030267 24030267 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413811 M 9 1 0 "" HG00514 nsv3932088 1 24030267 24030267 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190856 M 1 1 0 "" HG002 nsv5624302 1 24030267 24030267 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063326 M 35 1 0 "" HG00731 nsv6060459 1 24030267 24030267 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523613 M 405 1 0 "" nsv2801430 1 24030268 24030268 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685928 M 2 1 0 "" nsv3322834 1 24030268 24030268 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489133 M 14 1 0 "" CHM1 nsv5961517 1 24030310 24030310 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350911 M 914 1 0 "" nsv3540950 1 24030350 24030350 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377041 M 9 1 0 "" NA19240 nsv3322835 1 24030366 24030366 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484649 M 14 1 0 "" HG01352 nsv5829503 1 24030394 24033643 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454399 M 914 0 0 "" nsv473882 1 24030986 24030986 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018778 M 9 1 0 "" NA12156 nsv6321411 1 24032285 24043446 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058963 M 19652 0 1 "" nsv5871051 1 24035128 24035421 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360161 M 914 0 1 "" nsv5982951 1 24035137 24035430 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536722 M 405 0 1 "" nsv6315617 1 24037089 24037601 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202486 M 19652 1 0 "" nsv4044662 1 24037155 24037560 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966122 M 10847 1 0 "" nsv4752724 1 24037332 24037332 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288972 M 25 1 0 "" nsv5605927 1 24037355 24037355 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063328,nssv17063327 M 35 2 0 "" HG00732,HG03125 nsv2800713 1 24037356 24037356 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676675 M 2 1 0 "" nsv3322991 1 24037356 24037356 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491225,nssv14478978,nssv14475297,nssv14487429,nssv14491186,nssv14478639,nssv14481147,nssv14475565 M 14 8 0 "" CHM13,HG00514,HG00733,HG02059,HG02106,HG02818,HX1,NA12878 nsv6047800 1 24037428 24037428 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520699 M 405 1 0 "" nsv3322400 1 24037439 24037439 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488968 M 14 1 0 "" NA19434 nsv3543055 1 24037447 24037447 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440506 M 9 1 0 "" HG00733 nsv3536571 1 24037462 24037462 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377691,nssv14413812 M 9 2 0 "" HG00514,NA19240 nsv3053544 1 24037471 24037471 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032030 M 2 1 0 "" NA12878 nsv6043079 1 24037592 24037592 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525028 M 405 1 0 "" nsv4036027 1 24039746 24050790 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850606 M 10847 0 1 "" nsv5429327 1 24040799 24048048 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900170 M 3202 0 1 "" esv3585490 1 24040836 24048115 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890058 M 2504 0 1 "" HG04212 nsv4460722 1 24047443 24047444 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029865 M 10847 1 0 "" nsv5424957 1 24048048 24051485 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900171 M 3202 0 1 "" dgv120n223 1 24048133 24051545 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6316203,nsv6318416 M 19652 0 2 "" dgv38n166 1 24048655 24060695 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4035495,nsv4034086 M 10847 0 2 "" dgv121n223 1 24048700 24060695 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6328920,nsv6332847 M 19652 0 2 "" nsv4044678 1 24048721 24048974 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850608 M 10847 0 1 "" nsv6545077 1 24048871 24050042 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250785 M 19652 0 0 "" nsv6315881 1 24049138 24050936 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202492 M 19652 1 0 "" nsv6551345 1 24049812 24050945 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250786 M 19652 0 0 "" dgv122n223 1 24050041 24051804 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6552731,nsv6542220 M 19652 0 0 "" nsv5875488 1 24051385 24051678 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368354 M 914 0 1 "" nsv5868997 1 24056305 24056610 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356814 M 914 0 1 "" esv3664082 1 24056359 24056359 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486878 M 20 1 0 "" nsv6549316 1 24059570 24060087 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250791 M 19652 0 0 "" nsv6326293 1 24060051 24062206 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18058980 M 19652 0 1 "" nsv3208642 1 24060529 24061278 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355805 M 9 0 1 "" HG00513 nsv6552270 1 24060643 24061124 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250793 M 19652 0 0 "" nsv4460939 1 24068463 24068464 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029875 M 10847 1 0 "" nsv5692723 1 24068479 24068479 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17186012,nssv17205707 M 3202 2 0 "" nsv5401382 1 24068479 24068530 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901103 M 3202 1 0 "" nsv6315940 1 24069491 24069990 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059553 M 19652 0 1 TCEB3 nsv5427167 1 24084223 24084920 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901104 M 3202 0 1 TCEB3 nsv5948188 1 24084744 24084744 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360673 M 914 1 0 TCEB3 nsv6538470 1 24089284 24090559 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250802 M 19652 0 0 LOC100506963 esv3585491 1 24091293 24100075 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890060,essv9890079,essv9890067,essv9890061,essv9890078,essv9890059,essv9890080,essv9890070,essv9890081,essv9890068,essv9890076,essv9890072,essv9890075,essv9890073,essv9890074,essv9890071,essv9890077,essv9890069,essv9890063,essv9890062,essv9890066,essv9890064,essv9890065 M 2504 0 23 LOC100506963 HG02111,HG02318,HG02476,HG02549,HG03108,HG03300,HG03311,HG03391,HG03511,NA19019,NA19037,NA19041,NA19131,NA19323,NA19350,NA19383,NA19393,NA19431,NA19436,NA19443,NA19446,NA19448,NA19475 nsv5876377 1 24091454 24099935 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351928 M 914 0 1 LOC100506963 dgv29e199 1 24091454 24099936 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2663043,esv2658633 M 1151 0 15 LOC100506963 NA19350,NA19383,NA19393,NA19430,NA19431,NA19436,NA19438,NA19440,NA19443,NA19446,NA19448,NA19452,NA19468,NA19469,NA19470 nsv4041768 1 24091457 24099936 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850797 M 10847 0 1 LOC100506963 nsv5416256 1 24091457 24099936 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901106 M 3202 0 1 LOC100506963 dgv123n223 1 24091457 24099990 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6317585,nsv6319479 M 19652 0 2 LOC100506963 nsv5867918 1 24091601 24091799 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352175 M 914 0 1 LOC100506963 nsv5426375 1 24091601 24091800 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901107 M 3202 0 1 LOC100506963 nsv6328640 1 24091633 24093823 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202495 M 19652 1 0 LOC100506963 nsv5829564 1 24091691 24100535 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453579 M 914 0 0 LOC100506963 esv3667136 1 24091944 24092042 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489626 M 20 0 0 LOC100506963 esv3664093 1 24092281 24092281 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486888 M 20 1 0 LOC100506963 nsv6540771 1 24093111 24093813 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250804 M 19652 0 0 LOC100506963 nsv6319619 1 24094347 24101205 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202497 M 19652 1 0 LOC100506963 nsv6334051 1 24096259 24096563 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059249 M 19652 0 1 LOC100506963 nsv6318227 1 24096952 24097506 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059251 M 19652 0 1 LOC100506963 esv2671952 1 24106738 24108455 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5775421 M 1151 0 1 PITHD1 NA19466 nsv4032772 1 24106738 24108455 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850798 M 10847 0 1 PITHD1 nsv5428364 1 24106738 24108455 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901108 M 3202 0 1 PITHD1 nsv6329130 1 24106738 24108455 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059252 M 19652 0 1 PITHD1 esv3585492 1 24106890 24108440 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890082 M 2504 0 1 PITHD1 NA19466 nsv5688696 1 24108491 24108491 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17186366 M 3202 1 0 PITHD1 nsv5395154 1 24108491 24108542 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901110 M 3202 1 0 PITHD1 nsv1149837 1 24109754 24109820 CNV insertion John_et_al_2014 26484159 Sequencing nssv3998627 M 1 1 0 PITHD1 KWB1 nsv1137742 1 24109869 24109920 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990249 M 2 0 1 PITHD1 KWS2 nsv6324779 1 24110949 24111521 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202499 M 19652 1 0 PITHD1 nsv4035638 1 24110949 24111548 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966123 M 10847 1 0 PITHD1 nsv5426116 1 24111010 24111524 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901112 M 3202 1 0 PITHD1 dgv141n152 1 24117291 24123840 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3199835,nsv3201177 M 9 0 9 GALE,LYPLA2 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4562326 1 24120216 24120217 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029885 M 10847 1 0 LYPLA2 nsv6325965 1 24135471 24210579 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059270 M 19652 0 1 CNR2,FUCA1,HMGCL nsv4047584 1 24140150 24151383 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850799 M 10847 0 1 HMGCL nsv1113088 1 24141048 24141106 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967981 M 2 0 1 HMGCL KWS2 nsv4042664 1 24147610 24160233 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850800 M 10847 0 1 HMGCL nsv4033188 1 24148869 24149803 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850801 M 10847 0 1 HMGCL nsv6042710 1 24148912 24148912 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527732 M 405 1 0 HMGCL nsv6318135 1 24153899 24168778 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059280 M 19652 0 1 "" dgv124n223 1 24153926 24155020 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6548580,nsv6536016 M 19652 0 0 "" nsv6541546 1 24155589 24156017 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250044 M 19652 0 0 "" nsv4461464 1 24157846 24157847 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029895 M 10847 1 0 "" nsv6540603 1 24158990 24159897 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250045 M 19652 0 0 "" esv3664097 1 24160500 24160500 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486891 M 20 1 0 "" esv2665549 1 24161807 24166325 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5589265,essv6477099,essv6219908 M 1151 0 3 "" HG00448,HG00614,HG00663 esv2745319 1 24161877 24166110 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6729633 M 96 0 1 "" SSM047 nsv6330767 1 24161891 24166190 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059287 M 19652 0 1 "" nsv6540940 1 24161915 24162287 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250048 M 19652 0 0 "" esv3585493 1 24161948 24166207 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890087,essv9890084,essv9890085,essv9890083,essv9890086 M 2504 0 5 "" HG00448,HG00663,HG02076,HG02371,NA18945 nsv5886807 1 24162011 24166164 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350107 M 914 0 1 "" nsv5982902 1 24162035 24166111 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533675 M 405 0 1 "" nsv5432214 1 24162079 24166116 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901113 M 3202 0 1 "" nsv6257523 1 24162918 24162918 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17840290 M 1021 1 0 "" nsv5575975 1 24163288 24164071 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063773 M 35 0 1 "" NA19983 nsv5430344 1 24163314 24164116 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901114 M 3202 0 1 "" nsv6046805 1 24163576 24163576 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526245 M 405 1 0 "" nsv3928134 1 24163585 24163585 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190858 M 1 1 0 "" HG002 nsv5613720 1 24163585 24163585 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063774 M 35 1 0 "" HG00731 nsv3322843 1 24163600 24163600 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491244,nssv14489296,nssv14479277 M 14 3 0 "" HG00268,HG02059,HG02106 nsv3064085 1 24163655 24163655 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035415 M 2 1 0 "" NA12878 nsv3239988 1 24163664 24163718 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440507 M 9 0 0 "" HG00733 nsv2801432 1 24163707 24163707 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13711198 M 2 1 0 "" nsv3321938 1 24163707 24163707 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489545,nssv14472415,nssv14474999,nssv14483992,nssv14481334,nssv14482147,nssv14481040,nssv14472874,nssv14487487,nssv14487154 M 14 10 0 "" CHM1,CHM13,HG00514,HG00733,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3241243 1 24163707 24163763 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379722,nssv14413813 M 9 0 0 "" HG00514,NA19240 nsv6051382 1 24163752 24163752 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529226 M 405 1 0 "" nsv6048644 1 24163805 24163805 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519469 M 405 1 0 "" nsv5982959 1 24163892 24163996 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522713 M 405 0 1 "" esv1587089 1 24163918 24163918 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4060701 M 2 1 0 "" HuRef nsv3929173 1 24163974 24163974 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190859 M 1 1 0 "" HG002 nsv5611396 1 24163974 24163974 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063775 M 35 1 0 "" HG00512 nsv5605869 1 24163978 24163978 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063776 M 35 1 0 "" HG00731 nsv2801599 1 24163999 24163999 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679772 M 2 1 0 "" nsv3323000 1 24163999 24163999 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481329,nssv14473775,nssv14482008 M 14 3 0 "" CHM1,HG00268,HG02106 nsv4752307 1 24164026 24164026 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16267209 M 25 1 0 "" nsv6058281 1 24164030 24164030 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519901 M 405 1 0 "" nsv3321939 1 24164034 24164034 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477017 M 14 1 0 "" HG04217 nsv5829507 1 24164081 24166088 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457795 M 914 0 0 "" nsv2801433 1 24164097 24164097 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680731 M 2 1 0 "" nsv3322405 1 24164097 24164097 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483747,nssv14472065,nssv14476833,nssv14484475,nssv14475919,nssv14484385,nssv14475551,nssv14481379,nssv14480078 M 14 9 0 "" CHM13,HG00514,HG00733,HG01352,HG02059,HG02818,HX1,NA12878,NA19434 nsv3234415 1 24164099 24164155 OTHER sequence alteration Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440508,nssv14387579,nssv14413814 M 9 0 0 "" HG00514,HG00733,NA19240 nsv3053547 1 24164126 24164126 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031638 M 2 1 0 "" NA12878 nsv5610660 1 24165168 24165168 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063777 M 35 1 0 "" HG03486 nsv5419571 1 24165789 24166843 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901115 M 3202 0 1 "" nsv6552987 1 24170312 24171067 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250053 M 19652 0 0 "" esv3893081 1 24170458 24239810 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25788296 M 3017 1 0 CNR2,FUCA1 nsv5829264 1 24171328 24172677 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458062 M 914 0 0 FUCA1 nsv4536644 1 24171543 24171544 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029905 M 10847 1 0 "" esv2745330 1 24172353 24172545 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6829013 M 96 0 1 FUCA1 SSM081 esv2742159 1 24172353 24175102 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6829014 M 96 0 1 FUCA1 SSM081 nsv6551109 1 24172991 24174323 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250054 M 19652 0 0 FUCA1 esv2745341 1 24175320 24180805 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6829015 M 96 0 1 FUCA1 SSM081 nsv6552742 1 24175778 24176484 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250055 M 19652 0 0 FUCA1 nsv6536043 1 24176402 24176508 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250056 M 19652 0 0 FUCA1 nsv5619065 1 24178052 24178052 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063780 M 35 1 0 FUCA1 NA18939 nsv5579733 1 24178052 24178130 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063779 M 35 0 1 FUCA1 HG03486 nsv4754509 1 24178058 24178058 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16295996 M 25 1 0 FUCA1 nsv6059300 1 24178146 24178146 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527415 M 405 1 0 FUCA1 nsv4732438 1 24179843 24179944 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279957 M 25 0 1 FUCA1 nsv5982960 1 24179873 24179926 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526027 M 405 0 1 FUCA1 esv2745352 1 24181094 24189598 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6829016 M 96 0 1 FUCA1 SSM081 nsv6334052 1 24183447 24187170 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202508 M 19652 1 0 FUCA1 esv3664101 1 24184003 24184003 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486895 M 20 1 0 FUCA1 esv2745364 1 24186432 24191938 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6829017 M 96 0 1 FUCA1 SSM081 nsv6322681 1 24186910 24187763 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202509 M 19652 1 0 FUCA1 nsv5428149 1 24186942 24187681 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901117 M 3202 0 1 FUCA1 nsv6333117 1 24187091 24187790 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059316 M 19652 0 1 FUCA1 nsv5690290 1 24188029 24188029 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17186090 M 3202 1 0 FUCA1 nsv5411509 1 24188029 24188080 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901118 M 3202 1 0 FUCA1 esv2745375 1 24189799 24194373 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6829019,essv6829018 M 96 0 1 FUCA1 SSM081 nsv6540324 1 24190345 24190858 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250060 M 19652 0 0 FUCA1 nsv5416532 1 24196166 24197031 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901119 M 3202 1 0 "" nsv6550606 1 24196178 24196742 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250061 M 19652 0 0 "" nsv1133021 1 24199728 24203342 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3987818 M 2 0 0 CNR2 KWS1 esv29329 1 24200146 24201391 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv12811,esv15695 M 40 0 15 CNR2 NA11894,NA11931,NA11993,NA12004,NA12749,NA12878,NA18505,NA18511,NA18517,NA18861,NA18907,NA18909,NA19147,NA19190,NA19225 dgv29n67 1 24200462 24201312 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv822009,nsv822032,nsv822020,nsv822043 M 31 0 5 CNR2 AK2,AK6,NA18947,NA18951,NA18972 dgv190n54 1 24200524 24201162 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545776,nsv545777,nsv545775 M 17421 0 3 CNR2 nsv545778 1 24200759 24201162 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711332,nssv711335,nssv711333,nssv711334 M 17421 0 4 CNR2 dgv191n54 1 24200772 24201357 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545780,nsv545779 M 17421 0 4 CNR2 nsv6549735 1 24202748 24203337 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250065 M 19652 0 0 CNR2 nsv6257534 1 24203648 24203648 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17840317 M 1021 1 0 CNR2 nsv3230231 1 24206897 24212149 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14270764,nssv14270765,nssv14270763 M 9 3 0 CNR2 HG00731,HG00733,NA19240 nsv6550588 1 24206909 24207548 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250067 M 19652 0 0 CNR2 nsv4049443 1 24207336 24207403 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850802 M 10847 0 1 CNR2 nsv5425391 1 24208359 24212280 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901120 M 3202 0 1 CNR2 esv991485 1 24208737 24214884 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563891 M 3 1 0 CNR2 HuRef nsv3215924 1 24209774 24238746 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14262197,nssv14262196,nssv14262201,nssv14262198,nssv14262199,nssv14262200 M 9 6 0 CNR2 HG00512,HG00731,HG00732,NA19238,NA19239,NA19240 nsv6546245 1 24210223 24210593 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250068 M 19652 0 0 CNR2 nsv512727 1 24210363 24210844 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625352 M 1 1 0 CNR2 1 nsv4763714 1 24210834 24210834 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16286463 M 25 1 0 CNR2 nsv3934368 1 24210835 24210835 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190860 M 1 1 0 CNR2 HG002 nsv4444938 1 24210835 24210835 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757606 M 1 1 0 CNR2 nsv5610126 1 24210835 24210835 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063616 M 35 1 0 CNR2 HG00731 nsv5953514 1 24210835 24210835 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361345 M 914 1 0 CNR2 nsv6046774 1 24210835 24210835 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520941 M 405 1 0 CNR2 esv3674658 1 24210835 24210836 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496396 M 20 0 0 CNR2 dgv142n152 1 24210835 24212986 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3182443,nsv3179560 M 9 0 0 CNR2 HG00733,NA19240 esv1663042 1 24210836 24210836 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4228988 M 2 1 0 CNR2 HuRef nsv2801435 1 24210836 24210836 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13705186 M 2 1 0 CNR2 nsv3322848 1 24210836 24210836 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488328,nssv14488140,nssv14477935,nssv14490450,nssv14474747,nssv14481046,nssv14476257,nssv14472179,nssv14481242 M 14 9 0 CNR2 CHM1,CHM13,HG00268,HG00733,HG01352,HG02106,NA12878,NA19240,NA19434 nsv6540011 1 24211265 24212198 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250069 M 19652 0 0 CNR2 nsv5880763 1 24212096 24212405 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363421 M 914 0 1 CNR2 dgv143n152 1 24212096 24212406 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3192400,nsv3190894 M 9 0 5 CNR2 HG00512,HG00733,NA19238,NA19239,NA19240 nsv1122310 1 24212096 24212406 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3969762 M 2 0 1 CNR2 KWS2 nsv5432913 1 24216260 24217199 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901122 M 3202 0 1 CNR2 nsv4041597 1 24216260 24217235 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850803 M 10847 0 1 CNR2 esv3585494 1 24216272 24217210 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890089,essv9890088 M 2504 0 2 CNR2 HG02610,HG02614 nsv4747317 1 24216419 24216548 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270308 M 25 0 1 CNR2 nsv5982962 1 24216427 24216555 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531976 M 405 0 1 CNR2 nsv4046799 1 24216429 24216555 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850804 M 10847 0 1 CNR2 nsv5418601 1 24216429 24216555 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901123 M 3202 0 1 CNR2 nsv5869935 1 24217190 24218063 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360126 M 914 0 1 CNR2 esv3585495 1 24223580 24224167 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890108,essv9890102,essv9890092,essv9890107,essv9890103,essv9890090,essv9890110,essv9890100,essv9890091,essv9890114,essv9890104,essv9890113,essv9890099,essv9890109,essv9890105,essv9890111,essv9890101,essv9890112,essv9890096,essv9890106,essv9890094,essv9890097,essv9890098,essv9890095,essv9890093 M 2504 0 25 CNR2 HG00358,HG00437,HG00446,HG00543,HG00559,HG00634,HG00654,HG00698,HG00728,HG01841,HG01846,HG01848,HG02178,HG02380,HG02383,HG02395,NA18599,NA18606,NA18946,NA18959,NA18962,NA18963,NA18966,NA19000,NA19083 nsv5879760 1 24223616 24224200 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359500 M 914 0 1 CNR2 esv2672735 1 24223616 24224201 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6123658,essv5641765,essv5478506,essv5538620,essv6247228,essv5783832,essv6346688,essv6211625,essv6338724,essv5499108,essv5406869,essv5527943,essv5537794 M 1151 0 13 CNR2 HG00418,HG00437,HG00543,HG00559,HG00596,HG00634,HG00654,HG00698,NA18599,NA18606,NA18963,NA19000,NA19083 nsv5983035 1 24223616 24224201 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518576 M 405 0 1 CNR2 esv2745386 1 24223618 24224160 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6946509 M 96 0 1 CNR2 SSM024 nsv4518349 1 24223628 24224193 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850805 M 10847 0 1 CNR2 nsv6319914 1 24223642 24224141 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059362 M 19652 0 1 CNR2 nsv5424483 1 24223643 24224154 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901125 M 3202 0 1 CNR2 nsv5424099 1 24224801 24225104 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901128 M 3202 0 1 CNR2 nsv5982963 1 24225391 24233119 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17536196 M 405 1 0 CNR2 nsv5544132 1 24226296 24226296 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901129 M 3202 1 0 CNR2 nsv4765465 1 24226300 24226300 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284527 M 25 1 0 CNR2 nsv5955117 1 24226300 24226300 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358906 M 914 1 0 CNR2 nsv2801602 1 24226301 24226301 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687322,nssv13683679 M 2 2 0 CNR2 dgv144n152 1 24226301 24226432 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3205592,nsv3206709 M 9 0 3 CNR2 NA19238,NA19239,NA19240 nsv3541874 1 24226340 24226340 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440510 M 9 1 0 CNR2 HG00733 nsv3535676 1 24226345 24226345 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382605,nssv14413816 M 9 2 0 CNR2 HG00514,NA19240 nsv3926279 1 24226346 24226346 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190861 M 1 1 0 CNR2 HG002 nsv3322568 1 24226356 24226436 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491689 M 14 0 1 CNR2 HG02106 nsv3053548 1 24226362 24226362 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021288 M 2 1 0 CNR2 NA12878 nsv5875203 1 24226382 24226445 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355584 M 914 0 1 CNR2 esv3682818 1 24226382 24226447 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467612 M 20 0 1 CNR2 nsv1145326 1 24226384 24226463 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982424 M 2 0 1 CNR2 KWS1 nsv5622071 1 24226421 24226421 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063620 M 35 1 0 CNR2 HG00731 nsv6059712 1 24226431 24226431 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531273 M 405 1 0 CNR2 nsv3322849 1 24226464 24226464 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484093 M 14 1 0 CNR2 HG02106 nsv3322850 1 24226478 24226478 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480171 M 14 1 0 CNR2 HG02059 nsv6332655 1 24227191 24229890 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202514 M 19652 1 0 CNR2 nsv5429250 1 24229842 24229954 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901130 M 3202 0 1 CNR2 nsv5418803 1 24232795 24232857 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901131 M 3202 1 0 CNR2 nsv4035101 1 24233718 24234564 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850806 M 10847 0 1 CNR2 nsv6317674 1 24234073 24234352 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059466 M 19652 0 1 CNR2 nsv5681137 1 24238112 24238112 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17186607 M 3202 1 0 CNR2 nsv5402702 1 24238112 24238155 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901135 M 3202 1 0 CNR2 nsv6537169 1 24239430 24240867 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250078 M 19652 0 0 CNR2 nsv4039622 1 24240976 24243290 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850807 M 10847 0 1 "" esv3418378 1 24243915 24243925 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863683 M 185 1 0 "" NA12005 nsv6332891 1 24244108 24256763 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202521 M 19652 1 0 MIR378F nsv3539298 1 24244308 24244308 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440511 M 9 1 0 "" HG00733 nsv3221153 1 24244308 24254728 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261420,nssv14275924 M 9 2 0 "" HG00733,NA19238 nsv6326279 1 24244355 24245247 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059459 M 19652 0 1 "" nsv5416236 1 24244698 24244909 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901136 M 3202 0 1 "" nsv4033502 1 24247777 24248749 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850808 M 10847 0 1 "" nsv6046331 1 24252204 24252204 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533995 M 405 1 0 "" nsv4533238 1 24252204 24252205 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030766 M 10847 1 0 "" nsv5983037 1 24253447 24257732 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530736 M 405 0 1 MIR378F nsv6742 1 24253913 24287381 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2882 M 9 1 0 MIR378F,PNRC2 NA18555 dgv60n106 1 24256400 24363100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1142756,nsv1121756 M 2 0 2 PNRC2,SRSF10 KWS1,KWS2 esv2676255 1 24256545 24319892 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6470712,essv6285848,essv6223248,essv6133992,essv6032725,essv6407576,essv6541778,essv5589908,essv5837996,essv6267797,essv5652043,essv5523576,essv5846032,essv5685776,essv5640877,essv5568989,essv5420473,essv5641327,essv5491374,essv5834335,essv6419179,essv6329332,essv6530819,essv6223000,essv6029480,essv5696689,essv6205556,essv6502255,essv5839876,essv5458279,essv5460111,essv6150791,essv5553999,essv5741543,essv5632388,essv5935079,essv5815793,essv5776834,essv6471479,essv6008683,essv6038427,essv6263821,essv5543571,essv5854710,essv5502878,essv5535735,essv5775587,essv6065453,essv5556143,essv5657971,essv5468498,essv6174404,essv5826734 M 1151 0 53 PNRC2,SRSF10 HG00553,HG00554,HG00637,HG00638,HG00640,HG00641,HG00731,HG00732,HG00734,HG00736,HG00737,HG00740,HG01047,HG01048,HG01051,HG01052,HG01055,HG01060,HG01061,HG01066,HG01067,HG01069,HG01070,HG01072,HG01073,HG01075,HG01079,HG01080,HG01082,HG01083,HG01095,HG01097,HG01098,HG01101,HG01102,HG01107,HG01108,HG01167,HG01168,HG01170,HG01171,HG01173,HG01174,HG01176,HG01182,HG01183,HG01187,HG01188,HG01190,HG01191,HG01197,HG01198,HG01204 esv2662136 1 24256545 24362092 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6527098,essv6050165,essv5517465,essv5503809,essv5767080,essv6022055 M 1151 0 6 PNRC2,SRSF10 HG01515,HG01516,HG01518,HG01519,HG01521,HG01522 nsv1075339 1 24256699 24362900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765030 M 1 0 1 PNRC2,SRSF10 KWP1 nsv6257545 1 24256904 24256904 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17840328 M 1021 1 0 "" nsv5433374 1 24257228 24258774 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901137 M 3202 0 1 "" nsv5565808 1 24257436 24258709 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063627 M 35 0 1 "" HG01114 nsv6330434 1 24257469 24258721 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059431 M 19652 0 1 "" nsv3944642 1 24262275 24262324 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181266 M 1 0 1 "" HG002 nsv3323003 1 24262277 24262328 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477658 M 14 0 1 "" HG04217 nsv4745536 1 24262285 24262338 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16286093 M 25 0 1 "" nsv5982964 1 24262300 24262351 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524913 M 405 0 1 "" nsv5430037 1 24264470 24267377 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901139 M 3202 0 1 "" nsv6325742 1 24264495 24267497 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202524 M 19652 1 0 "" nsv5870150 1 24265115 24266611 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17350007 M 914 1 0 "" nsv6327115 1 24266210 24267691 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059439 M 19652 0 1 "" nsv5417300 1 24267122 24267829 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901140 M 3202 0 1 "" nsv6326160 1 24267339 24269655 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059441 M 19652 0 1 "" nsv6138685 1 24267505 24267829 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901141 M 3202 0 1 "" nsv6329924 1 24267505 24267829 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059442 M 19652 0 1 "" nsv5982909 1 24267505 24267831 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534871 M 405 0 1 "" nsv6547012 1 24267909 24269192 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250083 M 19652 0 0 "" nsv945826 1 24268647 24275706 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1764962,nssv1765030,nssv1764954,nssv1764990,nssv1765021,nssv1764996,nssv1764967,nssv1764987,nssv1764975,nssv1765004,nssv1764948,nssv1764997,nssv1765029,nssv1765003,nssv1764965,nssv1764999,nssv1764960,nssv1765959,nssv1764969,nssv1765961,nssv1764974,nssv1765013,nssv1765024,nssv1764993,nssv1764956,nssv1765006,nssv1764977,nssv1764988,nssv1765027,nssv1765015,nssv1765020,nssv1765031,nssv1765025,nssv1765017,nssv1764979,nssv1764994,nssv1764950,nssv1765962,nssv1764970,nssv1765957,nssv1764958,nssv1765009,nssv1764966,nssv1764981,nssv1764951,nssv1765000,nssv1765022,nssv1764991,nssv1764963,nssv1764989,nssv1764959,nssv1765010,nssv1764964,nssv1765008,nssv1764947,nssv1765011,nssv1764973,nssv1764985,nssv1764980,nssv1764984,nssv1764972,nssv1764995,nssv1765023,nssv1764982,nssv1765272,nssv1765958,nssv1765026,nssv1764983,nssv1764968,nssv1765012,nssv1764971,nssv1764986,nssv1764961,nssv1765014,nssv1764949,nssv1765016,nssv1764955,nssv1765002,nssv1764978,nssv1765956,nssv1764957,nssv1765007,nssv1764976,nssv1765019,nssv1764946,nssv1765005,nssv1764953,nssv1765960,nssv1764952,nssv1765963,nssv1765028,nssv1765001,nssv1765274,nssv1764992,nssv1765273,nssv1765018,nssv1764998 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5420826 1 24278643 24280722 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901142 M 3202 0 1 "" esv3674660 1 24279501 24280685 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496398 M 20 0 0 "" nsv6326652 1 24280391 24284962 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059452 M 19652 0 1 "" nsv4045457 1 24284000 24291000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850809 M 10847 0 1 PNRC2 nsv950285 1 24284501 24296600 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997095 M 1 1 0 PNRC2,SRSF10 BILGI_BIOE nsv4037744 1 24290499 24290660 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850810 M 10847 0 1 "" nsv5419917 1 24290499 24290660 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901143 M 3202 0 1 "" esv3674662 1 24295576 24298955 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496400 M 20 0 0 SRSF10 nsv945827 1 24295691 24297880 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765990,nssv1766060,nssv1765975,nssv1766025,nssv1765992,nssv1766020,nssv1765978,nssv1766054,nssv1765998,nssv1766029,nssv1766044,nssv1766006,nssv1765985,nssv1766055,nssv1765988,nssv1766031,nssv1765991,nssv1766028,nssv1765981,nssv1766007,nssv1766050,nssv1766012,nssv1766042,nssv1766015,nssv1765996,nssv1766023,nssv1765983,nssv1766019,nssv1765980,nssv1766022,nssv1765977,nssv1766053,nssv1765982,nssv1766056,nssv1765968,nssv1766058,nssv1765999,nssv1766052,nssv1766041,nssv1766027,nssv1765979,nssv1766024,nssv1765971,nssv1766033,nssv1765970,nssv1766032,nssv1765984,nssv1766018,nssv1765995,nssv1766008,nssv1766000,nssv1766017,nssv1765989,nssv1766009,nssv1766046,nssv1766014,nssv1765972,nssv1766002,nssv1766047,nssv1766035,nssv1766001,nssv1766005,nssv1766048,nssv1766057,nssv1765997,nssv1766004,nssv1765969,nssv1766010,nssv1765987,nssv1766013,nssv1765964,nssv1766039,nssv1765976,nssv1766030,nssv1765986,nssv1766040,nssv1766045,nssv1766026,nssv1765993,nssv1766016,nssv1766043,nssv1766037,nssv1765994,nssv1766034,nssv1766049,nssv1766051,nssv1765974,nssv1766036,nssv1765973,nssv1766038,nssv1765966,nssv1766003,nssv1765967,nssv1766011,nssv1765965,nssv1766021,nssv1766059 M 97 10 0 SRSF10 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6316387 1 24298869 24299216 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059479 M 19652 0 1 SRSF10 nsv6257558 1 24304361 24304361 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841014 M 1021 1 0 SRSF10 nsv6552408 1 24307759 24308941 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250089 M 19652 0 0 "" nsv6327979 1 24312991 24315190 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059488 M 19652 0 1 "" nsv5874508 1 24313615 24313707 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357421 M 914 0 1 "" nsv5433082 1 24313653 24319653 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901144 M 3202 0 1 "" nsv5983120 1 24313685 24313737 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528717 M 405 0 1 "" nsv5829514 1 24314853 24318512 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458362 M 914 0 0 "" nsv5428448 1 24316042 24317285 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901145 M 3202 0 1 "" nsv511683 1 24318869 24322191 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626322 M 1 0 1 "" 1 nsv3282130 1 24319833 24319963 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14444456 M 9 0 1 "" HG00733 nsv2801604 1 24319835 24319981 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13676640 M 2 0 1 "" nsv3323006 1 24319835 24319981 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14814632,nssv14813170,nssv14813383,nssv14812042,nssv14814174,nssv14812755,nssv14814387,nssv14812368 M 14 0 8 "" CHM13,HG00268,HG00733,HG02059,HG02106,NA12878,NA19240,NA19434 nsv5982911 1 24319914 24320090 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521712 M 405 0 1 "" nsv3279764 1 24320033 24320407 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377548 M 9 0 1 "" NA19240 nsv5578101 1 24320104 24320477 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064185 M 35 0 1 "" HG00732 nsv3186998 1 24320112 24320163 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14417210 M 9 0 0 "" HG00514 nsv3281358 1 24320112 24320212 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14443268 M 9 0 1 "" HG00733 nsv5982912 1 24320122 24320407 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528058 M 405 0 1 "" nsv5577992 1 24320152 24320297 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064186 M 35 0 1 "" HG00731 nsv2801440 1 24320154 24320299 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13695569 M 2 0 1 "" nsv3322413 1 24320154 24320299 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491504,nssv14478228,nssv14487287,nssv14478036,nssv14472263,nssv14484035,nssv14484252,nssv14490348,nssv14481927,nssv14489456,nssv14482331,nssv14491485,nssv14490220 M 14 0 13 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3281327 1 24320155 24320351 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14445398 M 9 0 1 "" HG00733 nsv3322574 1 24320338 24320387 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484686 M 14 0 1 "" HG02818 nsv5568364 1 24320614 24320663 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064187 M 35 0 1 "" NA12329 esv2664644 1 24320745 24363092 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5700305,essv6132678,essv6495667,essv6344657,essv5754038,essv5805601,essv6461631,essv6397744,essv6453339,essv6058151,essv6064513,essv6013408,essv6038186,essv5897276,essv5536010,essv6451010,essv5512455,essv6503308,essv5923798,essv6338953,essv5741434,essv6522409,essv5477683,essv6573974,essv5940786,essv6476962,essv6024427,essv6297184,essv6014316,essv6570082,essv6135323,essv6439575,essv6127531,essv5964709,essv6595708,essv6194609,essv5823947,essv5557158,essv6245513,essv5606643,essv6404520,essv5499575,essv6210221,essv5406255,essv6235489,essv6568064,essv5897000,essv5976176,essv5586584,essv5789365,essv5600832,essv6113943,essv5925653 M 1151 0 53 "" HG00553,HG00554,HG00637,HG00638,HG00640,HG00641,HG00731,HG00732,HG00734,HG00736,HG00737,HG00740,HG01047,HG01048,HG01051,HG01052,HG01055,HG01060,HG01061,HG01066,HG01067,HG01069,HG01070,HG01072,HG01073,HG01075,HG01079,HG01080,HG01082,HG01083,HG01095,HG01097,HG01098,HG01101,HG01102,HG01107,HG01108,HG01167,HG01168,HG01170,HG01171,HG01173,HG01174,HG01176,HG01182,HG01183,HG01187,HG01188,HG01190,HG01191,HG01197,HG01198,HG01204 nsv5983121 1 24320749 24320800 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535159 M 405 0 1 "" nsv5982970 1 24320848 24320900 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532719 M 405 0 1 "" nsv5829269 1 24325036 24332335 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468322 M 914 0 0 "" nsv5869878 1 24325053 24345476 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17352558 M 914 1 0 "" nsv5428099 1 24325089 24345477 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901146 M 3202 1 0 "" nsv6335374 1 24328271 24328550 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059491 M 19652 0 1 "" esv3393873 1 24328761 24328780 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593802,essv9593813 M 185 2 0 "" NA12287,NA12873 nsv5413158 1 24328770 24328770 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901148 M 3202 1 0 "" nsv5614919 1 24328770 24328770 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063531 M 35 1 0 "" HG02011 nsv6051851 1 24328770 24328770 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526885 M 405 1 0 "" nsv4460772 1 24328770 24328771 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030777 M 10847 1 0 "" nsv2801605 1 24328771 24328771 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677217 M 2 1 0 "" nsv3323011 1 24328771 24328771 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14491636 M 14 1 0 "" CHM13 nsv5690364 1 24328785 24328785 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205709,nssv17187090 M 3202 2 0 "" nsv6257648 1 24328785 24328785 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841058 M 1021 1 0 "" nsv6551510 1 24332287 24333003 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250094 M 19652 0 0 "" nsv5982914 1 24332932 24333006 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520920 M 405 0 1 "" nsv5983123 1 24332952 24333064 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524148 M 405 0 1 "" nsv5425425 1 24335222 24340383 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901151 M 3202 1 0 "" nsv4758876 1 24337443 24337443 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16271731 M 25 1 0 "" nsv2801442 1 24337475 24337475 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693931 M 2 1 0 "" nsv3322576 1 24337475 24337475 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491630,nssv14490953,nssv14485096,nssv14487153,nssv14484088,nssv14477625,nssv14491450,nssv14490256,nssv14475556,nssv14490098,nssv14474697,nssv14491378,nssv14484906 M 14 13 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3531249 1 24337479 24337479 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413817 M 9 1 0 "" HG00514 nsv2801346 1 24337482 24337482 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679431 M 2 1 0 "" nsv3323012 1 24337482 24337482 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485658,nssv14484845,nssv14488637,nssv14484544,nssv14481537,nssv14483042,nssv14472649,nssv14478531,nssv14480680,nssv14473854,nssv14486946,nssv14485868,nssv14477263 M 14 13 0 "" CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3531774 1 24337502 24337502 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440514,nssv14440512,nssv14386629 M 9 2 0 "" HG00733,NA19240 nsv5622269 1 24337502 24337502 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063538 M 35 1 0 "" HG00731 nsv6059449 1 24337502 24337502 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523955 M 405 1 0 "" nsv6319460 1 24340989 24345901 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059504 M 19652 0 1 "" esv2745397 1 24341681 24342623 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6748487,essv6742150,essv6789162,essv6843909,essv6847035,essv6972362,essv6703869,essv6733493,essv6766555,essv6750614,essv6961571,essv6950571,essv6668969 M 96 0 13 "" SSM008,SSM011,SSM025,SSM027,SSM029,SSM031,SSM040,SSM049,SSM053,SSM057,SSM064,SSM070,SSM086 esv2745408 1 24342014 24342386 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6789162,essv6843909,essv6703869,essv6972362,essv6847035,essv6766555,essv6961571,essv6668969,essv6950571 M 96 0 9 "" SSM011,SSM025,SSM027,SSM029,SSM031,SSM040,SSM064,SSM070,SSM086 esv2745419 1 24342079 24342253 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6703869,essv6843909,essv6668969,essv6972362,essv6847035,essv6961571,essv6950571 M 96 0 7 "" SSM011,SSM025,SSM027,SSM029,SSM031,SSM040,SSM086 nsv5575313 1 24342165 24342252 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063542 M 35 0 1 "" HG00731 nsv5878801 1 24342165 24342252 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365341 M 914 0 1 "" nsv5982915 1 24342165 24342253 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531584 M 405 0 1 "" dgv145n152 1 24342165 24342260 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280403,nsv3526212 M 9 0 3 "" HG00731,HG00732,HG00733 nsv2801608 1 24342167 24342254 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13676539 M 2 0 1 "" nsv3322421 1 24342167 24342254 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490069,nssv14479019,nssv14487816,nssv14490419 M 14 0 4 "" CHM1,HG00268,HG00733,HG01352 nsv4736015 1 24342174 24342262 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281460 M 25 0 1 "" nsv5433174 1 24342188 24342253 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901153 M 3202 0 1 "" dgv14n206 1 24343575 24349966 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nsv5422197,nsv5427087 M 3202 2 0 "" nsv6538483 1 24344458 24344827 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250096 M 19652 0 0 "" nsv6329161 1 24345230 24349966 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202536 M 19652 1 0 "" nsv5414296 1 24345973 24360466 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901156 M 3202 0 1 "" nsv5554033 1 24345974 24360466 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683869 M 3202 0 0 "" nsv6322918 1 24346387 24348790 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059506 M 19652 0 1 "" nsv5567612 1 24352745 24355612 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063557 M 35 0 1 "" NA19983 nsv6315694 1 24352747 24355582 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059508 M 19652 0 1 "" nsv5418945 1 24352748 24355575 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901158 M 3202 0 1 "" nsv6317864 1 24352891 24354290 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059509 M 19652 0 1 "" nsv6328954 1 24355065 24360368 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059514 M 19652 0 1 "" nsv5690497 1 24357769 24357769 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17187130 M 3202 1 0 "" nsv6316168 1 24357991 24359390 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059517 M 19652 0 1 "" nsv6326668 1 24360583 24370923 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059520 M 19652 0 1 "" nsv4034846 1 24362000 24371000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850811 M 10847 0 1 "" nsv4046927 1 24367103 24367775 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850812 M 10847 0 1 "" nsv5583118 1 24367369 24367789 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063787 M 35 0 1 "" HG03065 nsv5886601 1 24367369 24367789 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355935 M 914 0 1 "" esv2674928 1 24367369 24367790 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6371620,essv5607650,essv6447787,essv6250066,essv6150592,essv5966423,essv6028652,essv5932308,essv6414442,essv6551327,essv5776849,essv6086473,essv5708663,essv6120722,essv5873139 M 1151 0 15 "" HG01069,HG01365,NA18501,NA18868,NA19093,NA19114,NA19190,NA19318,NA19360,NA19398,NA19430,NA19453,NA19703,NA19711,NA19985 nsv6315907 1 24367394 24367875 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059527 M 19652 0 1 "" nsv6138468 1 24367395 24367775 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901161 M 3202 0 1 "" esv3585496 1 24367682 24368465 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890115,essv9890118,essv9890117,essv9890119,essv9890116,essv9890123,essv9890120,essv9890122,essv9890121 M 2504 0 9 "" HG00232,HG01438,HG01494,HG01695,HG01953,HG03717,NA11892,NA20508,NA20524 esv3558677 1 24367714 24368562 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9757424 M 767 0 1 "" nsv5422227 1 24367758 24368511 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901162 M 3202 0 1 "" nsv5876123 1 24367783 24368558 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369341 M 914 0 1 "" nsv4042310 1 24367789 24368511 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851558 M 10847 0 1 "" esv3664120 1 24368030 24368030 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486911 M 20 1 0 "" nsv4571522 1 24368649 24368650 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030788 M 10847 1 0 "" nsv6544457 1 24369783 24370242 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250105 M 19652 0 0 "" nsv6330381 1 24373433 24374728 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200602 M 19652 1 0 "" nsv5423804 1 24374251 24374584 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901163 M 3202 0 1 "" nsv5622993 1 24374662 24374662 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063790 M 35 1 0 "" HG03125 nsv6052836 1 24374672 24374672 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520515 M 405 1 0 "" nsv6328959 1 24374681 24381155 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059535 M 19652 0 1 "" nsv5959205 1 24375919 24375919 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351669 M 914 1 0 "" nsv475436 1 24383382 24383382 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014221 M 9 1 0 MYOM3 NA19240 nsv6323867 1 24384525 24387384 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059543 M 19652 0 1 MYOM3 nsv5982980 1 24393227 24393335 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530387 M 405 0 1 MYOM3 nsv4044342 1 24393229 24393335 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851560 M 10847 0 1 MYOM3 nsv5417348 1 24393229 24393335 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901166 M 3202 0 1 MYOM3 nsv3322585 1 24393775 24393842 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481862 M 14 0 1 MYOM3 HG01352 nsv4517865 1 24393798 24393909 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851561 M 10847 0 1 MYOM3 nsv3323022 1 24393910 24393910 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480282 M 14 1 0 MYOM3 HG01352 nsv4518011 1 24394191 24395379 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851562 M 10847 0 1 MYOM3 nsv6323998 1 24394211 24395541 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060136 M 19652 0 1 MYOM3 nsv4034230 1 24394636 24395592 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851563 M 10847 0 1 MYOM3 nsv5425955 1 24395355 24395478 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901168 M 3202 0 1 MYOM3 nsv5613218 1 24396397 24396397 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063634 M 35 1 0 MYOM3 NA19983 nsv4533847 1 24396397 24396398 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030798 M 10847 1 0 MYOM3 nsv3322430 1 24396398 24396398 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14482558 M 14 1 0 MYOM3 NA19434 nsv5549014 1 24396415 24396448 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901171 M 3202 1 0 MYOM3 esv2609872 1 24402453 24404236 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5352209 M 1 0 1 MYOM3 NA18507 esv5851 1 24402727 24403603 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28292 M 1 0 0 MYOM3 esv1968924 1 24402803 24403489 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4552184 M 1 0 1 MYOM3 NA18507 esv2745430 1 24402938 24403305 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6871725,essv6748498,essv6885988,essv6793301,essv6892327,essv6832607,essv6925699,essv6766556,essv6972363,essv6810344,essv6961572 M 96 0 11 MYOM3 SSM008,SSM019,SSM027,SSM029,SSM064,SSM071,SSM076,SSM082,SSM091,SSM096,SSM098 esv3558788 1 24402957 24403358 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9757535 M 767 0 1 MYOM3 nsv5582058 1 24402985 24403301 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063635 M 35 0 1 MYOM3 HG00731 dgv61n106 1 24402985 24403302 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1111053,nsv1144534 M 2 0 1 MYOM3 KWS1 nsv3946080 1 24402985 24403302 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181274 M 1 0 1 MYOM3 HG002 nsv4449390 1 24402985 24403302 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15763832 M 1 0 1 MYOM3 nsv6328205 1 24402985 24403302 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060140 M 19652 0 1 MYOM3 esv3682844 1 24402985 24403503 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467636 M 20 0 1 MYOM3 dgv146n152 1 24402986 24403303 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3182208,nsv3520016 M 9 0 5 MYOM3 HG00731,HG00733,NA19238,NA19239,NA19240 esv989974 1 24402987 24403303 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3571507 M 3 0 1 MYOM3 HuRef nsv2801445 1 24402987 24403303 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13685902 M 2 0 1 MYOM3 nsv3323023 1 24402987 24403303 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14478914,nssv14473790,nssv14475994 M 14 0 3 MYOM3 CHM1,HG02818,NA19240 nsv4741607 1 24402996 24403313 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16283811 M 25 0 1 MYOM3 nsv5982982 1 24402997 24403315 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519636 M 405 0 1 MYOM3 nsv3059344 1 24403002 24403319 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14027248 M 2 0 1 MYOM3 CHM1 esv1250620 1 24403003 24403320 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3762899 M 2 0 1 MYOM3 HuRef nsv4034339 1 24403011 24403302 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851564 M 10847 0 1 MYOM3 nsv5417110 1 24403011 24403302 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901172 M 3202 0 1 MYOM3 nsv3322587 1 24403024 24403176 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14482633 M 14 0 1 MYOM3 HG00733 nsv5961512 1 24403302 24403302 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351372 M 914 1 0 MYOM3 esv2853014 1 24403316 24403627 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7122581 M 1 0 1 MYOM3 HuRef nsv822054 1 24408340 24408971 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431798 M 31 0 1 MYOM3 AK20 nsv6055296 1 24411618 24411618 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525908 M 405 1 0 MYOM3 nsv472633 1 24430148 24430148 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015597 M 9 1 0 MYOM3 NA18555 nsv6335143 1 24440432 24444269 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059063 M 19652 0 1 "" dgv33n209 1 24443650 24445249 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5829576,nsv5829744 M 914 0 0 "" nsv5869202 1 24443683 24445194 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353217 M 914 0 1 "" nsv4046314 1 24445392 24453536 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851565 M 10847 0 1 IL22RA1 esv3664124 1 24453864 24453864 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486915 M 20 1 0 IL22RA1 nsv6331475 1 24458591 24460190 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059068 M 19652 0 1 IL22RA1 nsv5549060 1 24467477 24467477 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901173 M 3202 1 0 IL22RA1 nsv5421038 1 24468751 24469049 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901174 M 3202 0 1 IL22RA1 nsv6335197 1 24473216 24477412 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059076 M 19652 0 1 "" nsv506922 1 24474568 24480568 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623264,nssv620647,nssv619227,nssv617526 M 4 0 0 "" CHM,NA10860,NA15510,NA18994 nsv4043155 1 24475000 24481000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851566 M 10847 0 1 IFNLR1 nsv5829274 1 24477327 24479526 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456309 M 914 0 0 "" nsv5876305 1 24477335 24479491 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365611 M 914 0 1 "" nsv4040701 1 24477337 24479492 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851567 M 10847 0 1 "" nsv6316953 1 24477337 24479492 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059077 M 19652 0 1 "" nsv6554173 1 24480250 24481276 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250137 M 19652 0 0 IFNLR1 nsv4737222 1 24489190 24489254 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16265748 M 25 0 1 IFNLR1 nsv3322435 1 24489199 24489249 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481151,nssv14491710 M 14 0 2 IFNLR1 HG04217,NA12878 dgv62n106 1 24489204 24489268 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1126982,nsv1133823 M 2 0 2 IFNLR1 KWS1,KWS2 esv3667309 1 24489216 24489292 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489782 M 20 0 0 IFNLR1 nsv5568464 1 24489245 24489328 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063663 M 35 0 1 IFNLR1 HG03125 nsv5686932 1 24489246 24489246 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17187410 M 3202 1 0 IFNLR1 nsv5982990 1 24489282 24489341 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532501 M 405 0 1 IFNLR1 nsv6257756 1 24489307 24489307 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841066 M 1021 1 0 IFNLR1 nsv506923 1 24491646 24497646 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623265,nssv620649,nssv619228,nssv617527 M 4 0 0 IFNLR1 CHM,NA10860,NA15510,NA18994 nsv6853 1 24492113 24526221 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8821 M 9 1 0 IFNLR1 NA12156 nsv4041334 1 24493868 24500133 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851568 M 10847 0 1 IFNLR1 nsv6317337 1 24493908 24523331 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200614 M 19652 1 0 IFNLR1 nsv5429959 1 24494476 24495456 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901176 M 3202 0 1 IFNLR1 nsv6257867 1 24494676 24494676 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841067 M 1021 1 0 IFNLR1 nsv6321264 1 24502351 24504646 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059097 M 19652 0 1 IFNLR1 nsv4052403 1 24502611 24506028 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851569 M 10847 0 1 IFNLR1 nsv5424628 1 24502611 24506028 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901177 M 3202 0 1 IFNLR1 nsv6325046 1 24505491 24528390 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200616 M 19652 1 0 IFNLR1,LOC284632 esv3664129 1 24505594 24505594 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486920 M 20 1 0 IFNLR1 nsv6329535 1 24508991 24589390 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200617 M 19652 1 0 IFNLR1,LOC284632 nsv6540953 1 24514561 24515218 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250145 M 19652 0 0 "" nsv3203435 1 24515545 24541609 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255005,nssv14255004,nssv14255003 M 9 0 3 LOC284632 HG00513,HG00514,NA19238 nsv6257975 1 24515715 24515715 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841123 M 1021 1 0 "" nsv545781 1 24516880 24523292 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711340 M 17421 0 1 "" nsv1120976 1 24519100 24524300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3964190 M 2 0 1 "" KWS2 nsv6316562 1 24519291 24523690 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059105 M 19652 0 1 "" esv3558899 1 24520231 24523825 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9757646 M 767 0 1 "" dgv1n73 1 24520301 24523700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nsv950291,nsv957864 M 1 0 1 "" BILGI_BIOE esv2745441 1 24520318 24523689 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880424,essv6725853,essv6883261,essv6689272,essv6871726,essv6718171,essv6885989,essv6748509,essv6877671,essv6738817,essv6742151,essv6902548,essv6710597,essv6785000,essv6916806,essv6793302,essv6714255,essv6917445,essv6696996,essv6797458,essv6829021,essv6789163,essv6929065,essv6843899,essv6941796,essv6843920,essv6925700,essv6847036,essv6699600,essv6816798,essv6950318,essv6766557,essv6967939,essv6747792,essv6753506,essv6761868,essv6950572,essv6821192,essv6666907,essv6961574,essv6876987,essv6750615,essv6759057,essv6784743,essv6695743,essv6839984,essv6816595,essv6933318,essv6863968,essv6719009 M 96 0 50 "" SSM003,SSM004,SSM006,SSM007,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM017,SSM019,SSM020,SSM021,SSM023,SSM025,SSM027,SSM028,SSM030,SSM036,SSM038,SSM039,SSM042,SSM043,SSM044,SSM046,SSM052,SSM053,SSM056,SSM057,SSM058,SSM061,SSM062,SSM064,SSM069,SSM070,SSM071,SSM072,SSM078,SSM079,SSM081,SSM084,SSM085,SSM086,SSM089,SSM091,SSM093,SSM094,SSM095,SSM096 nsv5829747 1 24520335 24522953 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465133 M 914 0 0 "" nsv4739156 1 24520339 24523653 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278833 M 25 0 1 "" dgv147n152 1 24520344 24523674 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3279957,nsv3194369 M 9 0 2 "" HG00513,HG00514 esv29789 1 24520344 24523704 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14913 M 40 0 7 "" NA07037,NA07045,NA11993,NA12004,NA12044,NA12414,NA12749 nsv5983135 1 24520347 24523657 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518769 M 405 0 1 "" nsv5565487 1 24520347 24523661 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063678 M 35 0 1 "" HG00513 nsv5872506 1 24520347 24523673 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361812 M 914 0 1 "" nsv1121068 1 24520347 24523674 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3964286 M 2 0 1 "" KWS2 nsv4518411 1 24520347 24523674 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851570 M 10847 0 1 "" nsv5414044 1 24520347 24523674 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901179 M 3202 0 1 "" dgv30e199 1 24520347 24523686 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2666896,esv2672510 M 1151 0 248 "" HG00116,HG00117,HG00120,HG00126,HG00131,HG00138,HG00140,HG00141,HG00146,HG00159,HG00160,HG00173,HG00174,HG00178,HG00182,HG00231,HG00244,HG00245,HG00246,HG00250,HG00252,HG00267,HG00269,HG00271,HG00272,HG00276,HG00280,HG00284,HG00310,HG00323,HG00326,HG00329,HG00331,HG00357,HG00373,HG00377,HG00418,HG00419,HG00422,HG00428,HG00437,HG00442,HG00448,HG00463,HG00472,HG00473,HG00513,HG00530,HG00557,HG00559,HG00565,HG00578,HG00580,HG00581,HG00583,HG00589,HG00592,HG00595,HG00596,HG00607,HG00610,HG00611,HG00613,HG00614,HG00620,HG00625,HG00629,HG00634,HG00635,HG00651,HG00656,HG00657,HG00662,HG00671,HG00684,HG00690,HG00693,HG00702,HG00704,HG00708,HG00737,HG01048,HG01055,HG01060,HG01067,HG01075,HG01125,HG01134,HG01136,HG01197,HG01359,HG01365,HG01374,HG01384,HG01461,NA07037,NA11881,NA11893,NA11993,NA11995,NA12004,NA12044,NA12249,NA12283,NA12286,NA12399,NA12414,NA12546,NA12716,NA12748,NA12749,NA12751,NA12761,NA12775,NA12829,NA18522,NA18532,NA18542,NA18544,NA18546,NA18547,NA18550,NA18557,NA18559,NA18561,NA18562,NA18563,NA18565,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18592,NA18593,NA18603,NA18605,NA18609,NA18611,NA18612,NA18614,NA18617,NA18619,NA18620,NA18623,NA18626,NA18630,NA18631,NA18632,NA18633,NA18634,NA18638,NA18856,NA18941,NA18942,NA18945,NA18951,NA18961,NA18963,NA18965,NA18973,NA18977,NA18982,NA18985,NA18988,NA19002,NA19005,NA19012,NA19055,NA19060,NA19064,NA19065,NA19066,NA19067,NA19068,NA19076,NA19079,NA19080,NA19085,NA19087,NA19116,NA19130,NA19197,NA19213,NA19311,NA19313,NA19316,NA19334,NA19360,NA19375,NA19429,NA19438,NA19449,NA19457,NA19462,NA19468,NA19648,NA19651,NA19654,NA19658,NA19660,NA19663,NA19679,NA19684,NA19716,NA19725,NA19726,NA19762,NA19773,NA19776,NA19779,NA20276,NA20278,NA20289,NA20296,NA20341,NA20342,NA20506,NA20510,NA20512,NA20517,NA20531,NA20537,NA20540,NA20542,NA20544,NA20581,NA20582,NA20585,NA20588,NA20755,NA20760,NA20765,NA20773,NA20774,NA20775,NA20778,NA20785,NA20787,NA20792,NA20799,NA20800,NA20802,NA20806,NA20810,NA20818,NA20819 dgv11n172 1 24520348 24523674 CNV deletion Deng_et_al_2019 31718558 Sequencing nsv4433083,nsv4433082 M 15 0 7 "" BTQ055,MDQ010,MDQ025,NB07,NB09,SMI018,SMI041 esv3585497 1 24520350 24523668 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890695,essv9890437,essv9890640,essv9890412,essv9890625,essv9890426,essv9890654,essv9890496,essv9890632,essv9890452,essv9890664,essv9890466,essv9890667,essv9890443,essv9890659,essv9890489,essv9890694,essv9890502,essv9890666,essv9890457,essv9890681,essv9890472,essv9890619,essv9890422,essv9890683,essv9890431,essv9890641,essv9890427,essv9890680,essv9890482,essv9890671,essv9890480,essv9890682,essv9890492,essv9890677,essv9890440,essv9890670,essv9890446,essv9890687,essv9890442,essv9890614,essv9890445,essv9890686,essv9890423,essv9890685,essv9890430,essv9890669,essv9890429,essv9890644,essv9890444,essv9890638,essv9890490,essv9890627,essv9890413,essv9890679,essv9890483,essv9890693,essv9890469,essv9890617,essv9890434,essv9890689,essv9890497,essv9890621,essv9890415,essv9890648,essv9890458,essv9890691,essv9890488,essv9890646,essv9890486,essv9890658,essv9890432,essv9890663,essv9890473,essv9890688,essv9890438,essv9890623,essv9890439,essv9890620,essv9890467,essv9890657,essv9890425,essv9890675,essv9890454,essv9890660,essv9890456,essv9890696,essv9890462,essv9890674,essv9890411,essv9890676,essv9890474,essv9890609,essv9890478,essv9890618,essv9890449,essv9890639,essv9890481,essv9890612,essv9890428,essv9890650,essv9890476,essv9890662,essv9890468,essv9890628,essv9890435,essv9890690,essv9890409,essv9890692,essv9890410,essv9890645,essv9890494,essv9890633,essv9890447,essv9890610,essv9890493,essv9890631,essv9890465,essv9890655,essv9890479,essv9890637,essv9890436,essv9890697,essv9890441,essv9890668,essv9890475,essv9890636,essv9890433,essv9890672,essv9890448,essv9890630,essv9890414,essv9890653,essv9890421,essv9890643,essv9890484,essv9890622,essv9890459,essv9890678,essv9890424,essv9890656,essv9890470,essv9890661,essv9890450,essv9890629,essv9890419,essv9890611,essv9890495,essv9890635,essv9890416,essv9890665,essv9890453,essv9890615,essv9890498,essv9890616,essv9890487,essv9890651,essv9890471,essv9890642,essv9890500,essv9890634,essv9890417,essv9890647,essv9890464,essv9890673,essv9890491,essv9890624,essv9890463,essv9890684,essv9890503,essv9890649,essv9890501,essv9890613,essv9890460,essv9890652,essv9890455,essv9890626,essv9890485,essv9890132,essv9890551,essv9890461,essv9890133,essv9890558,essv9890420,essv9890134,essv9890565,essv9890499,essv9890135,essv9890543,essv9890477,essv9890136,essv9890545,essv9890418,essv9890177,essv9890519,essv9890451,essv9890179,essv9890548,essv9890169,essv9890513,essv9890174,essv9890599,essv9890165,essv9890604,essv9890137,essv9890584,essv9890138,essv9890528,essv9890139,essv9890595,essv9890140,essv9890576,essv9890183,essv9890608,essv9890187,essv9890600,essv9890141,essv9890529,essv9890166,essv9890590,essv9890173,essv9890508,essv9890142,essv9890520,essv9890143,essv9890526,essv9890172,essv9890591,essv9890164,essv9890504,essv9890180,essv9890524,essv9890185,essv9890547,essv9890124,essv9890573,essv9890144,essv9890593,essv9890125,essv9890578,essv9890145,essv9890549,essv9890168,essv9890589,essv9890184,essv9890532,essv9890176,essv9890596,essv9890126,essv9890542,essv9890146,essv9890592,essv9890147,essv9890583,essv9890148,essv9890509,essv9890149,essv9890588,essv9890150,essv9890560,essv9890151,essv9890579,essv9890127,essv9890582,essv9890175,essv9890571,essv9890152,essv9890510,essv9890128,essv9890535,essv9890153,essv9890539,essv9890154,essv9890586,essv9890129,essv9890581,essv9890155,essv9890577,essv9890181,essv9890538,essv9890156,essv9890546,essv9890167,essv9890534,essv9890171,essv9890555,essv9890130,essv9890566,essv9890157,essv9890559,essv9890158,essv9890570,essv9890159,essv9890536,essv9890160,essv9890597,essv9890131,essv9890518,essv9890182,essv9890507,essv9890161,essv9890598,essv9890178,essv9890533,essv9890170,essv9890561,essv9890162,essv9890516,essv9890186,essv9890531,essv9890163,essv9890605,essv9890212,essv9890541,essv9890255,essv9890550,essv9890274,essv9890512,essv9890268,essv9890514,essv9890216,essv9890607,essv9890213,essv9890568,essv9890279,essv9890564,essv9890194,essv9890563,essv9890252,essv9890601,essv9890270,essv9890540,essv9890200,essv9890554,essv9890199,essv9890515,essv9890240,essv9890603,essv9890205,essv9890585,essv9890244,essv9890525,essv9890254,essv9890511,essv9890202,essv9890553,essv9890215,essv9890530,essv9890264,essv9890602,essv9890201,essv9890517,essv9890221,essv9890575,essv9890222,essv9890594,essv9890195,essv9890523,essv9890242,essv9890567,essv9890218,essv9890557,essv9890241,essv9890606,essv9890266,essv9890574,essv9890207,essv9890562,essv9890230,essv9890587,essv9890231,essv9890569,essv9890260,essv9890527,essv9890265,essv9890572,essv9890237,essv9890537,essv9890228,essv9890522,essv9890272,essv9890556,essv9890248,essv9890552,essv9890226,essv9890580,essv9890198,essv9890521,essv9890220,essv9890506,essv9890225,essv9890544,essv9890208,essv9890505,essv9890253,essv9890407,essv9890243,essv9890382,essv9890189,essv9890394,essv9890192,essv9890406,essv9890271,essv9890386,essv9890267,essv9890402,essv9890223,essv9890400,essv9890197,essv9890383,essv9890234,essv9890388,essv9890190,essv9890401,essv9890210,essv9890389,essv9890219,essv9890399,essv9890238,essv9890385,essv9890224,essv9890392,essv9890196,essv9890404,essv9890191,essv9890390,essv9890247,essv9890384,essv9890262,essv9890381,essv9890269,essv9890380,essv9890259,essv9890398,essv9890257,essv9890395,essv9890277,essv9890403,essv9890217,essv9890408,essv9890261,essv9890387,essv9890251,essv9890393,essv9890258,essv9890405,essv9890204,essv9890391,essv9890211,essv9890397,essv9890232,essv9890396,essv9890239,essv9890283,essv9890233,essv9890359,essv9890203,essv9890299,essv9890227,essv9890322,essv9890206,essv9890326,essv9890229,essv9890370,essv9890214,essv9890285,essv9890250,essv9890316,essv9890276,essv9890330,essv9890246,essv9890374,essv9890188,essv9890332,essv9890193,essv9890294,essv9890245,essv9890298,essv9890209,essv9890350,essv9890249,essv9890368,essv9890273,essv9890280,essv9890235,essv9890357,essv9890263,essv9890292,essv9890256,essv9890335,essv9890278,essv9890349,essv9890275,essv9890303,essv9890236,essv9890293,essv9890286,essv9890315,essv9890325,essv9890310,essv9890373,essv9890364,essv9890367,essv9890344,essv9890305,essv9890289,essv9890284,essv9890304,essv9890329,essv9890352,essv9890281,essv9890282,essv9890366,essv9890356,essv9890375,essv9890341,essv9890312,essv9890342,essv9890317,essv9890354,essv9890379,essv9890345,essv9890333,essv9890290,essv9890309,essv9890287,essv9890365,essv9890328,essv9890348,essv9890307,essv9890301,essv9890308,essv9890306,essv9890302,essv9890339,essv9890331,essv9890336,essv9890358,essv9890318,essv9890327,essv9890347,essv9890337,essv9890295,essv9890288,essv9890334,essv9890362,essv9890377,essv9890296,essv9890321,essv9890313,essv9890343,essv9890361,essv9890300,essv9890314,essv9890346,essv9890311,essv9890378,essv9890353,essv9890351,essv9890371,essv9890297,essv9890372,essv9890323,essv9890320,essv9890340,essv9890338,essv9890376,essv9890324,essv9890355,essv9890319,essv9890291,essv9890363,essv9890369,essv9890360 M 2504 0 574 "" HG00097,HG00099,HG00102,HG00112,HG00116,HG00117,HG00120,HG00126,HG00138,HG00140,HG00141,HG00145,HG00146,HG00159,HG00160,HG00173,HG00174,HG00178,HG00181,HG00182,HG00231,HG00234,HG00244,HG00245,HG00246,HG00250,HG00252,HG00255,HG00267,HG00269,HG00271,HG00272,HG00276,HG00280,HG00284,HG00290,HG00304,HG00310,HG00323,HG00326,HG00329,HG00331,HG00341,HG00350,HG00351,HG00356,HG00357,HG00358,HG00368,HG00371,HG00373,HG00378,HG00383,HG00406,HG00409,HG00419,HG00422,HG00428,HG00437,HG00442,HG00448,HG00458,HG00463,HG00472,HG00473,HG00513,HG00530,HG00557,HG00559,HG00565,HG00580,HG00581,HG00583,HG00589,HG00592,HG00595,HG00596,HG00607,HG00613,HG00614,HG00620,HG00625,HG00629,HG00631,HG00651,HG00656,HG00657,HG00662,HG00671,HG00674,HG00675,HG00684,HG00690,HG00693,HG00704,HG00708,HG00717,HG00737,HG00739,HG00864,HG00879,HG00956,HG00978,HG01028,HG01029,HG01031,HG01048,HG01055,HG01058,HG01060,HG01063,HG01067,HG01075,HG01097,HG01104,HG01112,HG01113,HG01119,HG01122,HG01125,HG01134,HG01136,HG01162,HG01197,HG01253,HG01260,HG01281,HG01345,HG01359,HG01365,HG01374,HG01383,HG01384,HG01432,HG01461,HG01468,HG01474,HG01479,HG01486,HG01498,HG01503,HG01506,HG01521,HG01522,HG01524,HG01577,HG01593,HG01596,HG01597,HG01602,HG01603,HG01618,HG01620,HG01623,HG01624,HG01625,HG01679,HG01686,HG01694,HG01697,HG01705,HG01710,HG01768,HG01771,HG01775,HG01777,HG01779,HG01789,HG01794,HG01799,HG01800,HG01804,HG01806,HG01807,HG01808,HG01809,HG01812,HG01841,HG01848,HG01859,HG01861,HG01863,HG01865,HG01866,HG01869,HG01870,HG01871,HG01873,HG01896,HG01939,HG01980,HG01986,HG02014,HG02019,HG02020,HG02026,HG02028,HG02047,HG02049,HG02050,HG02064,HG02072,HG02076,HG02082,HG02084,HG02088,HG02111,HG02127,HG02130,HG02131,HG02133,HG02136,HG02137,HG02138,HG02139,HG02140,HG02141,HG02142,HG02151,HG02164,HG02165,HG02178,HG02180,HG02181,HG02185,HG02187,HG02215,HG02220,HG02230,HG02231,HG02252,HG02285,HG02301,HG02308,HG02330,HG02337,HG02351,HG02353,HG02355,HG02356,HG02360,HG02364,HG02367,HG02371,HG02373,HG02374,HG02384,HG02390,HG02396,HG02398,HG02399,HG02402,HG02406,HG02408,HG02409,HG02450,HG02491,HG02494,HG02512,HG02521,HG02601,HG02682,HG02684,HG02687,HG02690,HG02696,HG02700,HG02728,HG02783,HG02792,HG02793,HG02952,HG02953,HG03009,HG03016,HG03022,HG03105,HG03117,HG03118,HG03160,HG03168,HG03198,HG03238,HG03369,HG03445,HG03520,HG03585,HG03615,HG03616,HG03619,HG03652,HG03667,HG03668,HG03672,HG03681,HG03685,HG03691,HG03692,HG03698,HG03706,HG03713,HG03727,HG03730,HG03733,HG03738,HG03742,HG03744,HG03746,HG03752,HG03762,HG03771,HG03777,HG03778,HG03792,HG03793,HG03796,HG03808,HG03812,HG03814,HG03817,HG03821,HG03824,HG03830,HG03832,HG03836,HG03837,HG03846,HG03864,HG03868,HG03871,HG03872,HG03886,HG03910,HG03917,HG03922,HG03926,HG03944,HG03955,HG03965,HG03968,HG03969,HG03971,HG03986,HG03989,HG03990,HG04001,HG04014,HG04019,HG04047,HG04062,HG04070,HG04080,HG04090,HG04099,HG04118,HG04144,HG04153,HG04155,HG04159,HG04194,HG04202,HG04212,HG04214,HG04227,HG04235,HG04239,NA07037,NA11881,NA11893,NA11995,NA12004,NA12005,NA12044,NA12249,NA12283,NA12286,NA12399,NA12414,NA12546,NA12716,NA12748,NA12749,NA12751,NA12760,NA12761,NA12775,NA12829,NA18522,NA18525,NA18531,NA18532,NA18542,NA18544,NA18546,NA18547,NA18550,NA18557,NA18559,NA18561,NA18562,NA18563,NA18565,NA18570,NA18571,NA18572,NA18573,NA18577,NA18579,NA18591,NA18592,NA18593,NA18603,NA18605,NA18609,NA18611,NA18612,NA18614,NA18617,NA18619,NA18620,NA18623,NA18626,NA18629,NA18631,NA18632,NA18633,NA18634,NA18638,NA18639,NA18640,NA18641,NA18642,NA18644,NA18740,NA18745,NA18747,NA18748,NA18749,NA18757,NA18856,NA18871,NA18942,NA18945,NA18946,NA18951,NA18961,NA18963,NA18965,NA18969,NA18973,NA18977,NA18982,NA18985,NA18988,NA19001,NA19002,NA19005,NA19011,NA19012,NA19031,NA19042,NA19055,NA19060,NA19064,NA19065,NA19066,NA19067,NA19068,NA19076,NA19079,NA19080,NA19085,NA19087,NA19089,NA19091,NA19096,NA19116,NA19130,NA19137,NA19197,NA19213,NA19316,NA19331,NA19334,NA19360,NA19375,NA19380,NA19429,NA19438,NA19449,NA19457,NA19462,NA19468,NA19648,NA19651,NA19654,NA19658,NA19663,NA19669,NA19679,NA19684,NA19716,NA19725,NA19726,NA19741,NA19762,NA19764,NA19773,NA19776,NA19779,NA20276,NA20278,NA20289,NA20296,NA20334,NA20342,NA20355,NA20506,NA20510,NA20512,NA20514,NA20517,NA20531,NA20540,NA20542,NA20544,NA20581,NA20582,NA20585,NA20588,NA20755,NA20759,NA20760,NA20765,NA20773,NA20774,NA20775,NA20778,NA20785,NA20787,NA20792,NA20799,NA20800,NA20802,NA20806,NA20810,NA20818,NA20819,NA20821,NA20845,NA20846,NA20849,NA20852,NA20862,NA20867,NA20876,NA20878,NA20882,NA20885,NA20889,NA20890,NA20895,NA21091,NA21094,NA21095,NA21097,NA21099,NA21101,NA21103,NA21108,NA21123,NA21128,NA21133,NA21142 nsv3322883 1 24520373 24523673 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488622 M 14 0 1 "" HG00514 nsv1160378 1 24520583 24540228 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026268 M 369 1 0 LOC284632 nsv6329710 1 24520792 24521327 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059107 M 19652 0 1 "" nsv5983149 1 24520811 24521334 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537509 M 405 0 1 "" dgv30n67 1 24520813 24523406 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv822065,nsv822076,nsv822087 M 31 0 14 "" AK12,AK14,AK18,AK20,AK6,AK8,NA18542,NA18547,NA18570,NA18592,NA18942,NA18951,NA18969,NA18973 nsv4041623 1 24520828 24521316 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851571 M 10847 0 1 "" dgv192n54 1 24521464 24522743 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545790,nsv545783,nsv545791,nsv545782,nsv545792,nsv545786,nsv545785,nsv545784 M 17421 0 74 "" dgv193n54 1 24521464 24523292 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545788,nsv545787,nsv545797,nsv545793,nsv545794,nsv545789 M 17421 0 93 "" dgv194n54 1 24521842 24522743 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545796,nsv545795 M 17421 0 2 "" nsv545798 1 24521842 24525996 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711510 M 17421 0 1 "" dgv195n54 1 24522048 24522743 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545801,nsv545799 M 17421 0 4 "" nsv545800 1 24522048 24522988 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711513 M 17421 0 1 "" dgv196n54 1 24522191 24523292 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545803,nsv545802,nsv545804 M 17421 0 4 "" nsv5983215 1 24522416 24523670 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536456 M 405 0 1 "" nsv6326030 1 24522691 24524390 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200625 M 19652 1 0 "" nsv6041829 1 24525696 24525696 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531837 M 405 1 0 "" nsv3219628 1 24535181 24541609 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267552 M 9 1 0 LOC284632 NA19239 nsv6552422 1 24535253 24536159 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250156 M 19652 0 0 LOC284632 nsv3230018 1 24535837 24582022 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267615 M 9 1 0 LOC284632 NA19239 nsv4038899 1 24536302 24542489 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851572 M 10847 0 1 LOC284632 esv2745452 1 24538078 24539158 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6668970,essv6785001,essv6954760,essv6780883,essv6967940,essv6972364,essv6961575,essv6950574 M 96 0 8 LOC284632 SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM068,SSM069 nsv6049572 1 24538407 24538407 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532698 M 405 1 0 "" dgv148n152 1 24538418 24538517 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3210225,nsv3206891 M 9 0 3 "" HG00731,HG00732,HG00733 nsv1113089 1 24538418 24538517 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995115,nssv3970517 M 2 0 2 "" KWS1,KWS2 esv3682875 1 24538418 24538894 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467664 M 20 0 1 "" nsv2800720 1 24538420 24538518 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13684521 M 2 0 1 "" nsv3322594 1 24538420 24538518 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472178,nssv14490324 M 14 0 2 "" CHM1,NA12878 nsv3323031 1 24538457 24538457 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472172,nssv14476392 M 14 2 0 "" HG02818,NA19240 esv2745463 1 24538470 24538584 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6954760,essv6668970 M 96 0 2 "" SSM026,SSM031 nsv1124212 1 24538487 24538582 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975520 M 2 0 1 "" KWS1 nsv1146754 1 24538488 24538577 CNV deletion John_et_al_2014 26484159 Sequencing nssv3995905 M 1 0 1 "" KWB1 nsv5604905 1 24538510 24538510 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063563 M 35 1 0 "" HG00731 nsv5581463 1 24538510 24538569 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063562 M 35 0 1 "" HG00731 nsv3538793 1 24538515 24538515 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380307 M 9 1 0 "" NA19240 nsv3280657 1 24538516 24538578 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14417649 M 9 0 1 "" HG00514 nsv3051683 1 24538519 24538519 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019532 M 2 1 0 "" NA12878 nsv2801451 1 24538527 24538578 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13681458 M 2 0 1 "" nsv3323032 1 24538527 24538578 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473329,nssv14483906,nssv14482920,nssv14474822,nssv14476128,nssv14478418 M 14 0 6 "" CHM13,HG00268,HG00514,HG02059,HG04217,NA19434 nsv3322438 1 24538528 24538528 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487773,nssv14475228,nssv14491813,nssv14475027,nssv14487047 M 14 5 0 "" HG00733,HG01352,HG02106,HG02818,NA19240 esv2745475 1 24538548 24539158 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6785001,essv6780883,essv6692780 M 96 0 3 "" SSM037,SSM068,SSM069 nsv3322439 1 24538558 24538558 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475392,nssv14481360,nssv14487728,nssv14472791,nssv14481038 M 14 5 0 "" HG00733,HG01352,HG02106,HG02818,NA19240 nsv3322440 1 24538589 24538589 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473017,nssv14475967,nssv14476912,nssv14484998 M 14 4 0 "" HG00733,HG01352,HG02106,HG02818 nsv5614665 1 24538604 24538604 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063564 M 35 1 0 "" HG00864 nsv5618820 1 24538612 24538612 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063565 M 35 1 0 "" HG03486 nsv5609638 1 24538616 24538616 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063566 M 35 1 0 "" NA19239 nsv3051684 1 24538617 24538617 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019995 M 2 1 0 "" NA12878 nsv3530346 1 24538665 24538665 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440515 M 9 1 0 "" HG00733 nsv1119399 1 24538698 24538779 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3959841 M 2 1 0 "" KWS1 nsv5539104 1 24538741 24538777 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901183 M 3202 1 0 "" nsv3533945 1 24538791 24538791 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413818 M 9 1 0 "" HG00514 nsv3322441 1 24538804 24538804 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489453,nssv14485041,nssv14476223 M 14 3 0 "" HG02106,HG04217,NA19240 nsv5608980 1 24538814 24538814 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063796 M 35 1 0 "" NA19240 nsv3536546 1 24538832 24538832 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413819 M 9 1 0 "" HG00514 nsv5617512 1 24538833 24538833 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063797 M 35 1 0 "" HG00513 nsv2800721 1 24538839 24538839 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694376 M 2 1 0 "" nsv3322885 1 24538839 24538839 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490225,nssv14480042,nssv14487380,nssv14490346,nssv14473594,nssv14479577,nssv14483552,nssv14486814,nssv14479454,nssv14481468,nssv14485849 M 14 11 0 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 nsv3323033 1 24538844 24538844 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474741,nssv14490429,nssv14487143,nssv14474566,nssv14491755,nssv14480104 M 14 6 0 "" HG00733,HG01352,HG02106,HG02818,NA12878,NA19434 nsv3531337 1 24538863 24538863 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440516 M 9 1 0 "" HG00733 nsv5606838 1 24538863 24538863 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063798,nssv17063799 M 35 1 0 "" HG00731 nsv6041913 1 24538863 24538863 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519322 M 405 1 0 "" nsv3322595 1 24538864 24538864 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490699,nssv14483237,nssv14479982 M 14 3 0 "" HG00268,HG02059,HG04217 nsv3051685 1 24538874 24538874 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14022799 M 2 1 0 "" NA12878 nsv2801612 1 24538875 24538875 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681761 M 2 1 0 "" nsv3534286 1 24538879 24538879 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413820 M 9 1 0 "" HG00514 nsv3540886 1 24538896 24538896 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382720 M 9 1 0 "" NA19240 nsv3540749 1 24538940 24538940 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373927 M 9 1 0 "" NA19240 nsv2800722 1 24538965 24538965 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676712 M 2 1 0 "" nsv3322886 1 24538965 24538965 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483811,nssv14487565,nssv14477791,nssv14472731,nssv14474198,nssv14485341 M 14 6 0 "" CHM13,HG00268,HG00514,HG04217,NA12878,NA19240 nsv3532150 1 24538985 24538985 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373559 M 9 1 0 "" NA19240 nsv475891 1 24540146 24540146 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015467 M 9 1 0 "" NA12878 nsv3561682 1 24545555 24545555 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357385,nssv14357386 M 9 2 0 "" HG00513,HG00732 nsv4754869 1 24545573 24545573 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16292645 M 25 1 0 "" nsv5870610 1 24545575 24545633 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17352409 M 914 1 0 "" nsv6051616 1 24545628 24545628 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518831 M 405 1 0 "" nsv5605769 1 24545640 24545640 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063804 M 35 1 0 "" HG03065 nsv6257986 1 24545653 24545653 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841777 M 1021 1 0 "" nsv4535641 1 24545725 24545726 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030140 M 10847 1 0 "" nsv4533346 1 24545743 24545744 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030149 M 10847 1 0 "" nsv4533945 1 24545770 24545771 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030157 M 10847 1 0 "" nsv5720388 1 24553101 24553101 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17253020 M 3202 1 0 "" nsv822098 1 24555999 24556787 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1434162 M 31 0 1 "" NA18570 nsv3113500 1 24557215 24671993 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nssv14103792 M 467 1 0 GRHL3 sample5 nsv5417215 1 24557682 24557751 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901186 M 3202 1 0 "" esv2762309 1 24557760 24572080 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7008744 M 1109 0 1 "" SW_1506 esv3585499 1 24563347 24567689 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890699 M 2504 0 1 "" HG02685 nsv5423504 1 24563373 24567713 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899409 M 3202 0 1 "" nsv6536262 1 24568098 24569224 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250163 M 19652 0 0 "" nsv6545949 1 24571985 24573851 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250169 M 19652 0 0 "" nsv5983293 1 24577197 24584258 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531430 M 405 0 1 "" nsv5619828 1 24579564 24579564 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063988 M 35 1 0 "" NA19239 nsv4534579 1 24579564 24579565 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030174 M 10847 1 0 "" nsv3561950 1 24579577 24579577 CNV sva insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357427 M 9 1 0 "" NA19239 nsv469575 1 24579697 24776396 CNV loss Locke_et_al_2006 16826518 BAC aCGH nssv1676636 M 265 0 1 GRHL3,NIPAL3,STPG1 nsv4036708 1 24582802 24582868 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851573 M 10847 0 1 "" nsv4040847 1 24589348 24589423 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966125 M 10847 1 0 "" esv1964436 1 24592383 24592762 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4922131 M 1 0 1 "" NA18507 esv3667382 1 24595853 24595919 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16489848 M 20 0 0 "" nsv5730204 1 24607490 24607490 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17241224 M 3202 1 0 "" nsv5882974 1 24607639 24607704 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350630 M 914 0 1 "" nsv4048437 1 24607640 24607705 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851574 M 10847 0 1 "" nsv5421822 1 24607640 24607705 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899414 M 3202 0 1 "" nsv6319302 1 24616645 24619404 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059163 M 19652 0 1 "" nsv6331952 1 24620781 24626166 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059168 M 19652 0 1 "" nsv6331638 1 24622300 24623719 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059170 M 19652 0 1 "" nsv5428057 1 24622303 24623719 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899415 M 3202 0 1 "" nsv4040290 1 24624162 24624839 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851575 M 10847 0 1 "" nsv5417590 1 24624839 24625308 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899416 M 3202 0 1 "" nsv4536502 1 24625215 24625216 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030185 M 10847 1 0 "" nsv5430363 1 24629423 24629871 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899417 M 3202 1 0 "" nsv4039155 1 24633049 24633109 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966126 M 10847 1 0 "" nsv5414128 1 24644973 24645054 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16899419 M 3202 1 0 "" nsv834447 1 24649583 24805208 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444085 M 95 0 1 GRHL3,NIPAL3,STPG1 esv2745486 1 24652964 24653554 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6972365 M 96 0 1 GRHL3 SSM029 esv3426242 1 24662068 24662068 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740957 M 185 1 0 GRHL3 NA19240 nsv3213842 1 24662305 24673419 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261477 M 9 1 0 GRHL3 NA19238 nsv950302 1 24666301 24678900 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997097 M 1 0 1 GRHL3 BILGI_BIOE dgv149n152 1 24671091 24672340 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3203878,nsv3192620 M 9 0 9 GRHL3 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv2745497 1 24671380 24671726 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6793303,essv6725855,essv6699601 M 96 0 3 GRHL3 SSM039,SSM046,SSM071 nsv6042082 1 24671464 24671464 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534209 M 405 1 0 GRHL3 nsv2801458 1 24671481 24671481 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676778 M 2 1 0 GRHL3 nsv3322901 1 24671481 24671481 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483282,nssv14489024,nssv14478788,nssv14482976,nssv14477656,nssv14479204,nssv14479384,nssv14475238,nssv14472695,nssv14477957,nssv14481812,nssv14484017 M 14 12 0 GRHL3 CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19240,NA19434 nsv3533165 1 24671490 24671490 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413821 M 9 1 0 GRHL3 HG00514 nsv3933006 1 24671533 24671533 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190887 M 1 1 0 GRHL3 HG002 nsv5605878 1 24671533 24671533 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063833 M 35 1 0 GRHL3 HG00731 nsv5874646 1 24671534 24671784 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362709 M 914 0 1 GRHL3 nsv4444939 1 24671537 24671537 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766681 M 1 1 0 GRHL3 nsv2801459 1 24671557 24671557 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13693044 M 2 1 0 GRHL3 nsv3322902 1 24671557 24671557 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478813,nssv14477011,nssv14472046,nssv14479298,nssv14481995,nssv14472486 M 14 6 0 GRHL3 CHM1,HG00268,HG02106,HG04217,HX1,NA12878 esv1739869 1 24671563 24671563 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4074743 M 2 1 0 GRHL3 HuRef esv3682887 1 24671566 24671717 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467675 M 20 0 1 GRHL3 nsv3531163 1 24671577 24671577 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440517 M 9 1 0 GRHL3 HG00733 nsv2801356 1 24671582 24671582 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691116 M 2 1 0 GRHL3 nsv3322903 1 24671582 24671582 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490495,nssv14479515,nssv14491324,nssv14478891,nssv14474817,nssv14484675,nssv14490033,nssv14484355,nssv14478022,nssv14490343,nssv14476733 M 14 11 0 GRHL3 CHM1,HG00268,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3051686 1 24671633 24671633 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020123 M 2 1 0 GRHL3 NA12878 nsv6056553 1 24671647 24671647 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520162 M 405 1 0 GRHL3 nsv2801357 1 24671648 24671648 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699557 M 2 1 0 GRHL3 nsv3322609 1 24671648 24671648 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490876,nssv14491209,nssv14472465,nssv14486471,nssv14491978,nssv14484165,nssv14485941,nssv14477134,nssv14482596,nssv14480150,nssv14491364,nssv14489532,nssv14489272 M 14 13 0 GRHL3 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19434 nsv2801460 1 24671671 24671671 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691804 M 2 1 0 GRHL3 nsv3322904 1 24671671 24671671 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479318,nssv14487122,nssv14477104,nssv14485022,nssv14473749,nssv14486876,nssv14474236,nssv14484558,nssv14482792,nssv14484089,nssv14481594,nssv14481848,nssv14476457 M 14 13 0 GRHL3 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19434 nsv3541796 1 24671681 24671681 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413822 M 9 1 0 GRHL3 HG00514 nsv5624095 1 24671716 24671716 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063834 M 35 1 0 GRHL3 NA19238 nsv3322447 1 24671717 24671717 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484993,nssv14479411,nssv14489455,nssv14486399,nssv14486614 M 14 5 0 GRHL3 HG00268,HG02106,HG04217,HX1,NA19240 esv1745617 1 24671765 24671765 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4185921 M 2 1 0 GRHL3 HuRef nsv3530819 1 24671769 24671769 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388733 M 9 1 0 GRHL3 NA19240 nsv6329481 1 24689678 24703212 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059577 M 19652 0 1 GRHL3,STPG1 nsv4037976 1 24692604 24692951 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851576 M 10847 0 1 STPG1 nsv6322672 1 24692605 24692951 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059583 M 19652 0 1 STPG1 nsv4461312 1 24695584 24695585 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030194 M 10847 1 0 STPG1 nsv5691113 1 24695597 24695597 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17186789 M 3202 1 0 STPG1 nsv5403569 1 24695597 24695648 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900347 M 3202 1 0 STPG1 nsv4561480 1 24697310 24697311 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030204 M 10847 1 0 STPG1 nsv5983227 1 24697815 24698846 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535352 M 405 0 1 STPG1 nsv6554429 1 24702537 24703497 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250195 M 19652 0 0 STPG1 nsv4035800 1 24703520 24704863 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851577 M 10847 0 1 STPG1 nsv4044358 1 24704542 24704606 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851579 M 10847 0 1 STPG1 nsv5427128 1 24704542 24704606 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900348 M 3202 0 1 STPG1 nsv6329785 1 24704542 24704606 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059600 M 19652 0 1 STPG1 nsv4461487 1 24715663 24715664 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030213 M 10847 1 0 STPG1 nsv5686170 1 24715677 24715677 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17187247 M 3202 1 0 STPG1 nsv6257996 1 24715677 24715677 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841778 M 1021 1 0 STPG1 nsv5405302 1 24715677 24715728 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900350 M 3202 1 0 STPG1 nsv6545824 1 24722093 24722458 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250200 M 19652 0 0 STPG1 esv3664139 1 24722485 24722485 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486929 M 20 1 0 STPG1 nsv6536579 1 24728520 24728909 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250202 M 19652 0 0 STPG1 nsv4036917 1 24738000 24743000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966127 M 10847 1 0 NIPAL3,STPG1 nsv4461490 1 24738888 24738889 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030222 M 10847 1 0 STPG1 nsv3215603 1 24753700 24784203 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14274216 M 9 1 0 NIPAL3 HG00731 dgv26e212 1 24754406 24764439 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577790,esv3577789,esv3577788 M 873 0 81 NIPAL3 400007RG,400063BR,400066MA,400075MR,400107MJ,400108BJ,400158FB,400177CG,400198MD,400203NA,400205SP,400243CK,400271SR,400277LM,400285FA,400320RN,400338SR,400344DR,400359OR,400371GA,400374LB,400444MM,400478WE,400564SN,400625FT,400674CA,400677HD,400681MC,400728PB,400732MA,400763BT,400797ST,400849SH,400852WJ,400854SG,400882DD,400927BD,401021SC,401030GI,401133JG,401135CS,401136LB,401146US,401151RJ,401165SB,401203MP,401210PB,401212HJ,401230NL,401251WN,401258PC,401266HM,401278DM,401314MK,401315HK,401361GG,401410BJ,401480PG,401482CB,401493HC,401496SL,401551MB,401603HH,401674DD,401691HA,401714BM,401721CP,401732HW,401733CG,401766MR,401771OS,401773AM,401797LS,401819BS,401847RK,401853WR,401862AN,401869BG,401932GN,401952UH,402023EC esv3577791 1 24754406 24775970 CNV loss Uddin_et_al_2014 25503493 SNP array essv9833311 M 873 0 1 NIPAL3 400889CM nsv6057521 1 24754748 24754748 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518572 M 405 1 0 NIPAL3 nsv6054991 1 24754773 24754773 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524840 M 405 1 0 NIPAL3 esv3664143 1 24762982 24762982 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486932 M 20 1 0 NIPAL3 nsv6549480 1 24763259 24763737 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18248990 M 19652 0 0 NIPAL3 nsv6333177 1 24763351 24763686 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059632 M 19652 0 1 NIPAL3 nsv4042306 1 24764811 24793216 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966128 M 10847 1 0 NIPAL3 esv994910 1 24774896 24778511 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565699 M 3 1 0 NIPAL3 HuRef nsv3952122 1 24775163 24775163 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190895 M 1 1 0 NIPAL3 HG002 nsv4444940 1 24775163 24775163 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762328 M 1 1 0 NIPAL3 nsv5616100 1 24775163 24775163 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064037 M 35 1 0 NIPAL3 HG00731 nsv5958974 1 24775163 24775163 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358759 M 914 1 0 NIPAL3 nsv6050279 1 24775167 24775167 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523684 M 405 1 0 NIPAL3 nsv6335352 1 24775266 24776305 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059643 M 19652 0 1 NIPAL3 nsv4533500 1 24779357 24779358 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030231 M 10847 1 0 NIPAL3 nsv6332341 1 24783093 24788162 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059651 M 19652 0 1 NIPAL3 nsv6331727 1 24787735 24788222 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059653 M 19652 0 1 NIPAL3 nsv5579136 1 24787797 24788121 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064041 M 35 0 1 NIPAL3 HG02818 esv2675642 1 24787797 24788122 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5995185,essv6102526,essv6292877,essv6125001,essv5546110,essv6049949 M 1151 0 6 NIPAL3 NA18867,NA18870,NA19129,NA19707,NA20294,NA20322 nsv6138874 1 24787797 24788122 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900352 M 3202 0 1 NIPAL3 nsv3322625 1 24787799 24788123 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14490987 M 14 0 1 NIPAL3 HG02818 esv3585501 1 24788264 24789586 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9890701 M 2504 0 1 NIPAL3 HG01694 nsv5983167 1 24788296 24789599 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521440 M 405 0 1 NIPAL3 nsv5884524 1 24788306 24789579 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355335 M 914 0 1 NIPAL3 nsv5426675 1 24788318 24789552 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900353 M 3202 0 1 NIPAL3 nsv6319791 1 24788318 24789573 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059655 M 19652 0 1 NIPAL3 nsv4033156 1 24788319 24789574 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851580 M 10847 0 1 NIPAL3 nsv6965 1 24794996 24815142 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1967 M 9 0 1 NIPAL3 NA18555 nsv545805 1 24798383 24807014 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711520,nssv711522,nssv711521 M 17421 0 3 NIPAL3 nsv6315604 1 24802691 24807490 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059669 M 19652 0 1 "" nsv1130951 1 24803200 24809800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967649 M 2 0 1 "" KWS2 esv2670447 1 24804145 24809692 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6038566,essv5725222,essv6451545,essv6513308,essv5977901,essv6431983,essv6322013,essv5782178,essv5641460,essv5438808,essv5911074,essv6266555,essv6574503,essv5499710,essv6461066 M 1151 0 15 "" HG00403,HG00422,HG00428,HG00443,HG00472,HG00536,HG00583,HG00596,HG00610,HG00613,HG00625,HG00628,HG00657,HG00662,HG00704 dgv125n223 1 24804191 24809590 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6328073,nsv6326326 M 19652 0 2 "" esv23193 1 24804297 24807640 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv19100,esv9733 M 40 0 4 "" NA11931,NA11993,NA12489,NA12749 nsv5425171 1 24804300 24807440 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900354 M 3202 0 1 "" nsv4449391 1 24804398 24807302 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15762000 M 1 0 1 "" esv3559121 1 24804473 24807500 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9757868 M 767 0 1 "" nsv6316768 1 24804491 24806290 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059673 M 19652 0 1 "" esv2745508 1 24804527 24807508 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6874718,essv6744946,essv6769530,essv6821193,essv6695754 M 96 0 5 "" SSM006,SSM055,SSM065,SSM079,SSM092 nsv1133022 1 24804535 24805673 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3987819 M 2 0 0 "" KWS1 nsv1114959 1 24804535 24807438 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975257 M 2 0 1 "" KWS1 nsv5573759 1 24804536 24807439 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064045 M 35 0 1 "" NA24385 nsv5876805 1 24804536 24807439 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361106 M 914 0 1 "" esv2670985 1 24804536 24807440 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6539074,essv5420719,essv6459993,essv5500312,essv6483266,essv6117357,essv5961587,essv6436678,essv5788791,essv5844997,essv6574936,essv6204281,essv5648622,essv5937699,essv5561848,essv6038544,essv5863230,essv5850053,essv5525382,essv6130210,essv5861254,essv5766700,essv5676327,essv6422152,essv6023618,essv6315914,essv6175661,essv6167767,essv6297211,essv6411509,essv5785035,essv6413073,essv6414568,essv5494686,essv5683875,essv5686445,essv5538944,essv6199614,essv5531321,essv5838845,essv5701823,essv5469783,essv6023826,essv5855936,essv6222302,essv6243194,essv6094043,essv5877550,essv5944543,essv6069134,essv6519849,essv6002457,essv5548274,essv6136615,essv6468491,essv5677268,essv6052799,essv6249655,essv5613639,essv5530633,essv6428266,essv6432220,essv5912186,essv6387008,essv6387214,essv6242230,essv6299811,essv5817113,essv5486001,essv5862120,essv6060329,essv6403161,essv6248581,essv6423320,essv5948982,essv6149973,essv5551148,essv6275951,essv6332341,essv5914147,essv5532188,essv6584179,essv6182738,essv6124308,essv5512001,essv6171268,essv6057512,essv6190534,essv5692325,essv5836163,essv5536283,essv5812137,essv5906583,essv5501005,essv5899702,essv6367232,essv6556738,essv6590748,essv6089604,essv5981797,essv5487086,essv6134882,essv5811807,essv6286316,essv6528259,essv5702489,essv5719976,essv6545275,essv5706652,essv5721262,essv5809900,essv5938733,essv5668897,essv6147689,essv5878782,essv5863364,essv6301264,essv6286480,essv5767065,essv6003210,essv6359428,essv6043918,essv5625856,essv6170420,essv6075146,essv6203028,essv6576837,essv6470865,essv5974962,essv5889410,essv6511706,essv5469076,essv5419749,essv5968164,essv5662170,essv5507348,essv6424986,essv6596716,essv5801792,essv5568354,essv6595541,essv6118937,essv6076186,essv6143711,essv6230076,essv6476858,essv6375670,essv6230216,essv6380878,essv5531999,essv6039526,essv6062247,essv6086634,essv6050708,essv5768654,essv5725333,essv6428469,essv6348073 M 1151 0 158 "" HG00112,HG00117,HG00119,HG00123,HG00127,HG00148,HG00159,HG00160,HG00173,HG00178,HG00231,HG00239,HG00244,HG00256,HG00261,HG00276,HG00306,HG00309,HG00310,HG00311,HG00320,HG00328,HG00330,HG00334,HG00339,HG00372,HG00422,HG00428,HG00443,HG00472,HG00534,HG00536,HG00559,HG00583,HG00613,HG00625,HG00637,HG00640,HG00641,HG00657,HG00662,HG00672,HG00701,HG00704,HG00705,HG01061,HG01069,HG01075,HG01102,HG01124,HG01136,HG01167,HG01176,HG01342,HG01366,HG01374,HG01375,HG01377,HG01437,NA06984,NA11933,NA12272,NA12348,NA12383,NA12399,NA12718,NA12748,NA12842,NA18486,NA18536,NA18543,NA18544,NA18546,NA18561,NA18565,NA18574,NA18576,NA18582,NA18597,NA18602,NA18617,NA18618,NA18619,NA18623,NA18626,NA18631,NA18633,NA18638,NA18868,NA18874,NA18910,NA18924,NA18956,NA18960,NA18961,NA18977,NA18982,NA18985,NA18988,NA18989,NA19010,NA19054,NA19058,NA19060,NA19065,NA19082,NA19189,NA19247,NA19315,NA19318,NA19332,NA19347,NA19377,NA19379,NA19380,NA19393,NA19394,NA19398,NA19403,NA19429,NA19434,NA19444,NA19452,NA19461,NA19462,NA19471,NA19473,NA19655,NA19660,NA19661,NA19663,NA19675,NA19679,NA19681,NA19684,NA19685,NA19701,NA19703,NA19711,NA19720,NA19759,NA19785,NA19904,NA19909,NA19920,NA19921,NA20281,NA20314,NA20512,NA20521,NA20533,NA20761,NA20770,NA20787,NA20798,NA20799,NA20808,NA20815 nsv3941655 1 24804536 24807440 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181283 M 1 0 1 "" HG002 nsv5983168 1 24804536 24807440 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536469 M 405 0 1 "" nsv498665 1 24804536 24807450 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585415 M 9 0 1 "" nsv3322458 1 24804538 24807441 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479320,nssv14479321 M 14 0 2 "" HG04217,NA19434 nsv4048411 1 24804545 24807440 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851581 M 10847 0 1 "" nsv4743674 1 24804545 24807449 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16280209 M 25 0 1 "" esv3585502 1 24804603 24807532 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9891060,essv9890888,essv9890978,essv9890862,essv9891037,essv9890855,essv9891032,essv9890844,essv9890993,essv9890828,essv9891052,essv9890867,essv9890975,essv9890840,essv9891009,essv9890833,essv9890966,essv9890858,essv9891023,essv9890836,essv9890994,essv9890869,essv9891025,essv9890819,essv9891033,essv9890823,essv9890972,essv9890859,essv9890991,essv9890843,essv9891026,essv9890832,essv9891058,essv9890852,essv9891038,essv9890885,essv9890985,essv9890851,essv9891000,essv9890860,essv9890980,essv9890827,essv9891004,essv9890871,essv9891006,essv9890824,essv9890968,essv9890879,essv9891051,essv9890877,essv9891056,essv9890889,essv9891005,essv9890863,essv9891002,essv9890872,essv9890997,essv9890886,essv9890969,essv9890837,essv9890996,essv9890881,essv9891031,essv9890878,essv9890977,essv9890873,essv9890987,essv9890825,essv9891036,essv9890875,essv9891042,essv9890856,essv9890981,essv9890831,essv9890992,essv9890870,essv9891048,essv9890839,essv9891017,essv9890830,essv9891040,essv9890876,essv9891050,essv9890864,essv9891011,essv9890850,essv9890974,essv9890826,essv9891029,essv9890868,essv9891019,essv9890821,essv9890965,essv9890874,essv9890976,essv9890834,essv9890984,essv9890853,essv9890988,essv9890882,essv9891045,essv9890835,essv9891030,essv9890880,essv9890990,essv9890829,essv9891014,essv9890822,essv9891003,essv9890841,essv9890998,essv9890861,essv9891008,essv9890883,essv9891054,essv9890820,essv9890986,essv9890849,essv9891012,essv9890854,essv9891028,essv9890847,essv9891022,essv9890865,essv9890967,essv9890845,essv9891039,essv9890857,essv9891046,essv9890838,essv9891015,essv9890846,essv9891021,essv9890848,essv9891007,essv9890887,essv9890999,essv9890884,essv9891016,essv9890842,essv9890970,essv9890866,essv9890971,essv9890942,essv9890818,essv9891001,essv9890926,essv9890791,essv9891057,essv9890915,essv9890750,essv9891044,essv9890936,essv9890758,essv9891034,essv9890893,essv9890764,essv9891013,essv9890901,essv9890796,essv9891010,essv9890890,essv9890800,essv9891020,essv9890952,essv9890794,essv9891018,essv9890922,essv9890770,essv9890983,essv9890925,essv9890789,essv9891059,essv9890957,essv9890802,essv9890979,essv9890905,essv9890805,essv9891035,essv9890956,essv9890788,essv9891049,essv9890903,essv9890798,essv9890989,essv9890959,essv9890774,essv9890973,essv9890891,essv9890778,essv9891024,essv9890924,essv9890799,essv9891053,essv9890899,essv9890756,essv9890982,essv9890910,essv9890812,essv9891041,essv9890917,essv9890803,essv9891043,essv9890906,essv9890748,essv9890995,essv9890941,essv9890808,essv9891047,essv9890898,essv9890807,essv9891055,essv9890947,essv9890801,essv9891027,essv9890892,essv9890816,essv9890897,essv9890814,essv9890958,essv9890815,essv9890931,essv9890817,essv9890935,essv9890762,essv9890955,essv9890792,essv9890908,essv9890769,essv9890951,essv9890753,essv9890943,essv9890783,essv9890912,essv9890768,essv9890940,essv9890809,essv9890962,essv9890810,essv9890960,essv9890793,essv9890954,essv9890751,essv9890930,essv9890779,essv9890895,essv9890754,essv9890907,essv9890786,essv9890896,essv9890752,essv9890934,essv9890747,essv9890937,essv9890755,essv9890900,essv9890763,essv9890918,essv9890757,essv9890902,essv9890797,essv9890904,essv9890806,essv9890923,essv9890767,essv9890950,essv9890787,essv9890928,essv9890781,essv9890933,essv9890772,essv9890919,essv9890771,essv9890963,essv9890776,essv9890949,essv9890760,essv9890916,essv9890759,essv9890946,essv9890775,essv9890964,essv9890782,essv9890953,essv9890749,essv9890894,essv9890811,essv9890909,essv9890773,essv9890911,essv9890795,essv9890938,essv9890777,essv9890920,essv9890804,essv9890961,essv9890766,essv9890944,essv9890780,essv9890948,essv9890761,essv9890914,essv9890765,essv9890945,essv9890790,essv9890927,essv9890784,essv9890921,essv9890813,essv9890939,essv9890785,essv9890929,essv9891227,essv9890913,essv9891188,essv9890932,essv9891210,essv9890737,essv9891168,essv9890740,essv9891197,essv9890735,essv9891260,essv9890708,essv9891205,essv9890744,essv9891211,essv9890732,essv9891194,essv9890729,essv9891200,essv9890742,essv9891255,essv9890743,essv9891245,essv9890709,essv9891167,essv9890710,essv9891212,essv9890711,essv9891253,essv9890712,essv9891186,essv9890736,essv9891254,essv9890734,essv9891214,essv9890713,essv9891172,essv9890745,essv9891201,essv9890714,essv9891204,essv9890715,essv9891213,essv9890731,essv9891177,essv9890716,essv9891192,essv9890717,essv9891218,essv9890728,essv9891216,essv9890746,essv9891164,essv9890741,essv9891184,essv9890718,essv9891256,essv9890730,essv9891165,essv9890702,essv9891202,essv9890719,essv9891209,essv9890703,essv9891179,essv9890704,essv9891198,essv9890720,essv9891173,essv9890738,essv9891169,essv9890733,essv9891199,essv9890705,essv9891257,essv9890721,essv9891193,essv9890739,essv9891195,essv9890722,essv9891228,essv9890723,essv9891251,essv9890724,essv9891248,essv9890725,essv9891207,essv9890706,essv9891238,essv9890726,essv9891224,essv9890707,essv9891206,essv9890727,essv9891229,essv9891161,essv9891219,essv9891135,essv9891166,essv9891106,essv9891171,essv9891146,essv9891181,essv9891079,essv9891196,essv9891145,essv9891230,essv9891151,essv9891240,essv9891114,essv9891246,essv9891156,essv9891231,essv9891159,essv9891232,essv9891133,essv9891237,essv9891097,essv9891247,essv9891147,essv9891259,essv9891103,essv9891203,essv9891141,essv9891175,essv9891144,essv9891225,essv9891157,essv9891176,essv9891150,essv9891189,essv9891130,essv9891215,essv9891131,essv9891234,essv9891063,essv9891190,essv9891085,essv9891226,essv9891073,essv9891178,essv9891068,essv9891180,essv9891061,essv9891233,essv9891118,essv9891250,essv9891087,essv9891185,essv9891090,essv9891191,essv9891110,essv9891244,essv9891109,essv9891162,essv9891075,essv9891223,essv9891154,essv9891249,essv9891064,essv9891217,essv9891119,essv9891235,essv9891065,essv9891208,essv9891138,essv9891183,essv9891122,essv9891163,essv9891082,essv9891222,essv9891098,essv9891241,essv9891127,essv9891252,essv9891152,essv9891220,essv9891077,essv9891187,essv9891120,essv9891221,essv9891081,essv9891236,essv9891076,essv9891239,essv9891121,essv9891182,essv9891160,essv9891258,essv9891102,essv9891174,essv9891071,essv9891243,essv9891101,essv9891170,essv9891124,essv9891242,essv9891132,essv9891142,essv9891128,essv9891136,essv9891091,essv9891096,essv9891117,essv9891080,essv9891067,essv9891155,essv9891095,essv9891129,essv9891100,essv9891143,essv9891086,essv9891158,essv9891093,essv9891126,essv9891104,essv9891072,essv9891070,essv9891111,essv9891115,essv9891078,essv9891139,essv9891074,essv9891083,essv9891092,essv9891140,essv9891107,essv9891108,essv9891066,essv9891148,essv9891134,essv9891153,essv9891069,essv9891112,essv9891084,essv9891149,essv9891137,essv9891105,essv9891088,essv9891094,essv9891099,essv9891062,essv9891113,essv9891116,essv9891125,essv9891089,essv9891123 M 2504 0 559 "" HG00112,HG00117,HG00119,HG00123,HG00127,HG00129,HG00148,HG00159,HG00160,HG00173,HG00178,HG00231,HG00235,HG00239,HG00240,HG00244,HG00256,HG00261,HG00276,HG00290,HG00304,HG00306,HG00309,HG00310,HG00311,HG00320,HG00328,HG00330,HG00332,HG00334,HG00339,HG00350,HG00358,HG00365,HG00371,HG00372,HG00376,HG00383,HG00410,HG00422,HG00428,HG00443,HG00446,HG00458,HG00472,HG00534,HG00536,HG00559,HG00583,HG00610,HG00613,HG00622,HG00625,HG00631,HG00632,HG00637,HG00640,HG00641,HG00654,HG00657,HG00662,HG00672,HG00701,HG00704,HG00705,HG00717,HG00728,HG00742,HG00844,HG00864,HG00867,HG01061,HG01069,HG01075,HG01077,HG01102,HG01104,HG01124,HG01136,HG01139,HG01162,HG01167,HG01176,HG01247,HG01248,HG01251,HG01256,HG01269,HG01272,HG01284,HG01312,HG01325,HG01326,HG01341,HG01342,HG01344,HG01366,HG01374,HG01375,HG01377,HG01392,HG01393,HG01414,HG01431,HG01437,HG01438,HG01444,HG01506,HG01516,HG01536,HG01556,HG01586,HG01597,HG01599,HG01613,HG01615,HG01669,HG01675,HG01678,HG01679,HG01700,HG01704,HG01705,HG01708,HG01768,HG01773,HG01775,HG01795,HG01817,HG01841,HG01843,HG01851,HG01860,HG01863,HG01874,HG01883,HG01890,HG01896,HG01914,HG01915,HG01917,HG01938,HG01944,HG01951,HG01977,HG01990,HG02009,HG02010,HG02014,HG02026,HG02032,HG02051,HG02052,HG02061,HG02067,HG02108,HG02121,HG02122,HG02127,HG02140,HG02146,HG02165,HG02182,HG02184,HG02223,HG02231,HG02238,HG02239,HG02260,HG02277,HG02282,HG02283,HG02292,HG02314,HG02322,HG02332,HG02348,HG02351,HG02364,HG02371,HG02373,HG02392,HG02396,HG02407,HG02419,HG02455,HG02464,HG02465,HG02536,HG02541,HG02546,HG02555,HG02582,HG02611,HG02613,HG02635,HG02643,HG02645,HG02646,HG02676,HG02678,HG02679,HG02682,HG02688,HG02699,HG02702,HG02715,HG02716,HG02722,HG02737,HG02757,HG02759,HG02772,HG02778,HG02790,HG02816,HG02840,HG02854,HG02884,HG02891,HG02974,HG03007,HG03021,HG03027,HG03039,HG03045,HG03057,HG03063,HG03064,HG03077,HG03082,HG03088,HG03091,HG03096,HG03097,HG03099,HG03105,HG03111,HG03112,HG03117,HG03118,HG03121,HG03123,HG03129,HG03133,HG03136,HG03157,HG03162,HG03163,HG03195,HG03209,HG03267,HG03352,HG03366,HG03382,HG03385,HG03391,HG03397,HG03401,HG03436,HG03437,HG03451,HG03470,HG03490,HG03491,HG03511,HG03514,HG03557,HG03565,HG03567,HG03571,HG03600,HG03603,HG03615,HG03619,HG03673,HG03680,HG03681,HG03684,HG03687,HG03692,HG03702,HG03705,HG03711,HG03729,HG03731,HG03738,HG03740,HG03741,HG03742,HG03753,HG03755,HG03770,HG03772,HG03778,HG03787,HG03788,HG03800,HG03814,HG03821,HG03826,HG03830,HG03832,HG03837,HG03856,HG03861,HG03864,HG03884,HG03886,HG03895,HG03898,HG03899,HG03914,HG03919,HG03920,HG03922,HG03944,HG03965,HG03968,HG03969,HG03971,HG03973,HG03976,HG03978,HG03989,HG03991,HG03998,HG03999,HG04006,HG04042,HG04076,HG04090,HG04094,HG04118,HG04141,HG04155,HG04176,HG04189,HG04194,HG04200,HG04202,HG04206,HG04210,HG04225,HG04229,NA06984,NA07347,NA11830,NA11840,NA11931,NA11933,NA12043,NA12272,NA12348,NA12383,NA12399,NA12413,NA12489,NA12718,NA12748,NA12749,NA12763,NA12829,NA12842,NA12890,NA18486,NA18502,NA18510,NA18525,NA18536,NA18537,NA18543,NA18544,NA18546,NA18547,NA18555,NA18561,NA18565,NA18574,NA18582,NA18591,NA18597,NA18602,NA18617,NA18618,NA18619,NA18623,NA18626,NA18631,NA18633,NA18638,NA18641,NA18645,NA18648,NA18749,NA18865,NA18868,NA18874,NA18910,NA18912,NA18917,NA18924,NA18939,NA18949,NA18956,NA18960,NA18961,NA18969,NA18977,NA18980,NA18981,NA18982,NA18985,NA18988,NA18989,NA18992,NA18995,NA19000,NA19010,NA19011,NA19020,NA19028,NA19031,NA19037,NA19054,NA19057,NA19058,NA19060,NA19065,NA19082,NA19092,NA19096,NA19098,NA19117,NA19149,NA19152,NA19153,NA19160,NA19184,NA19185,NA19189,NA19197,NA19200,NA19201,NA19209,NA19210,NA19225,NA19247,NA19308,NA19310,NA19315,NA19317,NA19318,NA19321,NA19328,NA19331,NA19332,NA19334,NA19347,NA19374,NA19379,NA19380,NA19391,NA19393,NA19394,NA19403,NA19404,NA19429,NA19434,NA19452,NA19461,NA19462,NA19471,NA19473,NA19475,NA19655,NA19657,NA19661,NA19663,NA19679,NA19681,NA19684,NA19701,NA19703,NA19711,NA19720,NA19729,NA19731,NA19734,NA19756,NA19759,NA19762,NA19764,NA19771,NA19780,NA19785,NA19904,NA19909,NA19920,NA19921,NA19922,NA20281,NA20289,NA20291,NA20314,NA20332,NA20339,NA20346,NA20351,NA20362,NA20502,NA20512,NA20521,NA20522,NA20533,NA20535,NA20543,NA20587,NA20755,NA20761,NA20768,NA20770,NA20787,NA20798,NA20799,NA20808,NA20811,NA20815,NA20846,NA20847,NA20859,NA20863,NA20866,NA20870,NA20881,NA20885,NA20887,NA20888,NA20889,NA20890,NA20892,NA20897,NA20901,NA20906,NA21088,NA21089,NA21090,NA21091,NA21094,NA21098,NA21099,NA21104,NA21106,NA21109,NA21112,NA21117,NA21122,NA21125,NA21126 nsv5829296 1 24804856 24807455 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466556 M 914 0 0 "" dgv197n54 1 24805294 24806833 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545807,nsv545806,nsv545810,nsv545811,nsv545814 M 17421 0 5 "" dgv198n54 1 24805294 24807186 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545812,nsv545808,nsv545809,nsv545815,nsv545813 M 17421 0 117 "" nsv4035771 1 24805537 24806201 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966129 M 10847 1 0 "" nsv5874946 1 24805543 24806173 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17364782 M 914 1 0 "" nsv6329711 1 24805543 24806174 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200664 M 19652 1 0 "" nsv5416362 1 24805543 24806201 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900355 M 3202 1 0 "" nsv822109 1 24805694 24806860 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431800 M 31 0 1 "" AK20 dgv31n67 1 24805694 24807922 CNV loss Park_et_al_2010 20364138 Oligo aCGH nsv822120,nsv822131 M 31 0 6 "" AK16,NA18537,NA18547,NA18582,NA18949,NA18969 dgv199n54 1 24805890 24807186 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545816,nsv545822,nsv545817,nsv545818,nsv545821,nsv545820,nsv545819 M 17421 0 18 "" nsv513983 1 24805893 24806705 CNV loss Campbell_et_al_2011 21397061 Oligo aCGH nssv2857407,nssv2857405,nssv2857413,nssv2857339,nssv2857409,nssv2857338,nssv2857408,nssv2857367,nssv2857418,nssv2857344,nssv2857406,nssv2857353,nssv2857410,nssv2857375,nssv2857414,nssv2857389,nssv2857415,nssv2857330,nssv2857411,nssv2857326,nssv2857412,nssv2857398,nssv2857416,nssv2857391,nssv2857417,nssv2857376,nssv2857381,nssv2857399,nssv2857380,nssv2857346,nssv2857340,nssv2857351,nssv2857328,nssv2857366,nssv2857369,nssv2857333,nssv2857361,nssv2857362,nssv2857334,nssv2857390,nssv2857332,nssv2857387,nssv2857392,nssv2857360,nssv2857357,nssv2857371,nssv2857363,nssv2857343,nssv2857393,nssv2857364,nssv2857401,nssv2857337,nssv2857327,nssv2857377,nssv2857374,nssv2857384,nssv2857378,nssv2857397,nssv2857355,nssv2857331,nssv2857368,nssv2857379,nssv2857359,nssv2857394,nssv2857335,nssv2857348,nssv2857345,nssv2857404,nssv2857402,nssv2857350,nssv2857370,nssv2857347,nssv2857372,nssv2857373,nssv2857395,nssv2857349,nssv2857388,nssv2857385,nssv2857382,nssv2857403,nssv2857386,nssv2857329,nssv2857336,nssv2857383,nssv2857341,nssv2857365,nssv2857352,nssv2857354,nssv2857400,nssv2857396,nssv2857356,nssv2857358,nssv2857342 M 2366 0 93 "" NA06984,NA07349,NA10837,NA10850,NA10857,NA10860,NA11830,NA11840,NA11893,NA11993,NA12043,NA12272,NA12344,NA12348,NA12375,NA12383,NA12399,NA12489,NA12708,NA12718,NA12748,NA12749,NA12753,NA12763,NA12829,NA12832,NA12842,NA12877,NA12890,NA18486,NA18497,NA18510,NA18537,NA18547,NA18555,NA18558,NA18576,NA18582,NA18633,NA18859,NA18860,NA18868,NA18874,NA18910,NA18911,NA18917,NA18924,NA18949,NA18956,NA18960,NA18961,NA18969,NA18980,NA18981,NA18992,NA18995,NA19000,NA19092,NA19096,NA19097,NA19098,NA19101,NA19117,NA19149,NA19151,NA19152,NA19153,NA19154,NA19160,NA19179,NA19184,NA19185,NA19189,NA19191,NA19193,NA19197,NA19200,NA19201,NA19202,NA19205,NA19209,NA19210,NA19211,NA19225,NA19247,NA19249,NA21391,NA21399,NA21476,NA21514,NA21525,NA21581,NA21583 nsv6542045 1 24808901 24809442 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249015 M 19652 0 0 "" esv3664145 1 24817369 24817369 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486934 M 20 1 0 "" nsv4461321 1 24817454 24817455 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030241 M 10847 1 0 "" esv1298380 1 24821569 24821569 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3759955 M 2 1 0 "" HuRef nsv3115036 1 24828480 24830292 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14086819 M 467 0 1 RCAN3,RCAN3AS sample208 nsv1143442 1 24829100 24829700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980642 M 2 0 1 RCAN3 KWS1 nsv5726713 1 24833535 24833535 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17246470 M 3202 1 0 RCAN3 nsv5720477 1 24833552 24833552 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17240025 M 3202 1 0 RCAN3 nsv5557575 1 24833552 24833586 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900358 M 3202 1 0 RCAN3 nsv6319375 1 24837780 24838751 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059696 M 19652 0 1 RCAN3 esv3585504 1 24839646 24840116 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9891262 M 2504 0 1 RCAN3 HG01872 nsv5983171 1 24839651 24840072 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532187 M 405 0 1 RCAN3 nsv472981 1 24849687 24849687 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020463 M 9 1 0 RCAN3 NA19129 nsv6545647 1 24849755 24850586 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251435 M 19652 0 0 RCAN3 nsv5690483 1 24850124 24850124 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17186739 M 3202 1 0 RCAN3 nsv6543764 1 24855898 24856261 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251436 M 19652 0 0 RCAN3 nsv5948705 1 24856846 24856846 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363698 M 914 1 0 RCAN3 nsv5606006 1 24857593 24857593 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063690 M 35 1 0 RCAN3 NA19238 nsv5949122 1 24857593 24857593 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357711 M 914 1 0 RCAN3 nsv4534700 1 24857593 24857594 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030252 M 10847 1 0 RCAN3 nsv1140258 1 24857594 24886369 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3978971 M 2 0 0 NCMAP,RCAN3 KWS2 nsv5687046 1 24857611 24857611 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17186906,nssv17205710 M 3202 2 0 RCAN3 nsv6258005 1 24857611 24857611 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841781 M 1021 1 0 RCAN3 nsv5412785 1 24857611 24857662 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900361 M 3202 1 0 RCAN3 nsv6540509 1 24858734 24859164 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251437 M 19652 0 0 RCAN3 nsv6536394 1 24858992 24859190 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251438 M 19652 0 0 RCAN3 nsv4044167 1 24859000 24866000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851582 M 10847 0 1 RCAN3 nsv6329786 1 24859446 24866369 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059759 M 19652 0 1 RCAN3 nsv6544896 1 24864231 24864927 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251440 M 19652 0 0 "" nsv3195169 1 24869935 24870432 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356500,nssv14356501 M 9 0 2 "" HG00512,HG00514 nsv6540083 1 24870008 24870267 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251443 M 19652 0 0 "" nsv6319191 1 24873322 24886378 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200679 M 19652 1 0 NCMAP nsv6550824 1 24875069 24875859 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251444 M 19652 0 0 "" nsv4032773 1 24879201 24879872 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851583 M 10847 0 1 "" nsv6316972 1 24879299 24879872 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059772 M 19652 0 1 "" nsv6319631 1 24882292 24882791 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059774 M 19652 0 1 NCMAP esv3682917 1 24882550 24882635 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467701 M 20 0 1 NCMAP nsv5883944 1 24889749 24889837 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359931 M 914 0 1 NCMAP nsv4517120 1 24889750 24889838 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851584 M 10847 0 1 NCMAP nsv5432621 1 24889750 24889838 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900362 M 3202 0 1 NCMAP nsv6318198 1 24891341 24950746 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200683 M 19652 1 0 NCMAP dgv126n223 1 24894492 24902091 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6325207,nsv6318499 M 19652 0 2 NCMAP nsv545823 1 24894997 24947948 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711663 M 17421 1 0 NCMAP nsv436645 1 24895458 24902243 CNV deletion Korbel_et_al_2007 17901297 FISH,Oligo aCGH,PCR,Sequencing nssv465929 M 2 0 1 NCMAP NA18505 dgv31e199 1 24895660 24900868 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2676241,esv2675930 M 1151 0 32 NCMAP HG01390,NA18486,NA18487,NA18498,NA18505,NA18508,NA18511,NA18522,NA18853,NA18874,NA18910,NA18912,NA18924,NA18933,NA19098,NA19152,NA19172,NA19204,NA19207,NA19210,NA19235,NA19311,NA19313,NA19331,NA19395,NA19436,NA19449,NA19466,NA19654,NA19704,NA19711,NA19834 nsv5873150 1 24895748 24900873 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353817 M 914 0 1 NCMAP nsv6139091 1 24895748 24900874 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900364 M 3202 0 1 NCMAP nsv1147629 1 24895753 24900861 CNV deletion John_et_al_2014 26484159 Sequencing nssv3996415 M 1 0 1 NCMAP KWB1 nsv4037203 1 24895774 24900862 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851585 M 10847 0 1 NCMAP esv3585506 1 24895774 24900871 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9891541,essv9891517,essv9891540,essv9891523,essv9891538,essv9891509,essv9891539,essv9891529,essv9891542,essv9891502,essv9891469,essv9891589,essv9891513,essv9891472,essv9891576,essv9891521,essv9891470,essv9891575,essv9891498,essv9891466,essv9891584,essv9891510,essv9891473,essv9891586,essv9891524,essv9891464,essv9891579,essv9891474,essv9891462,essv9891581,essv9891478,essv9891468,essv9891585,essv9891499,essv9891465,essv9891580,essv9891482,essv9891463,essv9891588,essv9891501,essv9891461,essv9891591,essv9891508,essv9891458,essv9891590,essv9891536,essv9891460,essv9891583,essv9891518,essv9891459,essv9891574,essv9891515,essv9891471,essv9891577,essv9891496,essv9891467,essv9891587,essv9891522,essv9891578,essv9891495,essv9891582,essv9891507,essv9891456,essv9891533,essv9891454,essv9891480,essv9891455,essv9891504,essv9891457,essv9891535,essv9891573,essv9891512,essv9891567,essv9891487,essv9891554,essv9891488,essv9891564,essv9891503,essv9891549,essv9891505,essv9891555,essv9891494,essv9891563,essv9891485,essv9891553,essv9891520,essv9891559,essv9891493,essv9891557,essv9891475,essv9891560,essv9891477,essv9891570,essv9891489,essv9891572,essv9891530,essv9891547,essv9891511,essv9891562,essv9891486,essv9891561,essv9891516,essv9891548,essv9891479,essv9891550,essv9891476,essv9891571,essv9891490,essv9891545,essv9891537,essv9891543,essv9891531,essv9891565,essv9891514,essv9891551,essv9891483,essv9891546,essv9891491,essv9891558,essv9891500,essv9891552,essv9891497,essv9891556,essv9891528,essv9891566,essv9891519,essv9891569,essv9891492,essv9891568,essv9891527,essv9891544,essv9891526,essv9891532,essv9891481,essv9891525,essv9891506,essv9891534,essv9891484 M 2504 0 138 NCMAP HG01098,HG01286,HG01390,HG01551,HG01879,HG01883,HG01885,HG01886,HG01956,HG01958,HG01989,HG02054,HG02102,HG02144,HG02281,HG02309,HG02317,HG02419,HG02420,HG02439,HG02496,HG02501,HG02502,HG02505,HG02511,HG02537,HG02554,HG02558,HG02562,HG02571,HG02573,HG02580,HG02589,HG02613,HG02646,HG02678,HG02756,HG02760,HG02808,HG02813,HG02839,HG02851,HG02855,HG02879,HG02882,HG02938,HG02947,HG02953,HG02968,HG02976,HG02977,HG03024,HG03049,HG03055,HG03061,HG03069,HG03074,HG03078,HG03084,HG03085,HG03088,HG03097,HG03105,HG03115,HG03132,HG03135,HG03139,HG03166,HG03189,HG03202,HG03224,HG03240,HG03259,HG03279,HG03294,HG03298,HG03301,HG03304,HG03363,HG03380,HG03388,HG03394,HG03469,HG03472,HG03515,HG03521,HG03538,HG03563,HG03571,NA18486,NA18498,NA18505,NA18508,NA18511,NA18522,NA18853,NA18864,NA18874,NA18879,NA18910,NA18912,NA18923,NA18924,NA18933,NA19098,NA19121,NA19149,NA19172,NA19185,NA19189,NA19204,NA19206,NA19207,NA19210,NA19222,NA19235,NA19316,NA19331,NA19334,NA19372,NA19395,NA19436,NA19446,NA19449,NA19457,NA19466,NA19654,NA19704,NA19711,NA19834,NA19908,NA19913,NA19917,NA20126,NA20282,NA20294,NA20348,NA20357 nsv6329419 1 24895792 24897291 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059786 M 19652 0 1 NCMAP esv27046 1 24895796 24901144 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv13814 M 40 0 3 NCMAP NA18505,NA18508,NA18511 nsv5829866 1 24895813 24900812 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466656 M 914 0 0 NCMAP nsv6331355 1 24896692 24898491 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059788 M 19652 0 1 NCMAP nsv6323010 1 24897192 24900891 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059789 M 19652 0 1 NCMAP nsv5881540 1 24897864 24897924 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352055 M 914 0 1 NCMAP nsv4050774 1 24897864 24897925 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851586 M 10847 0 1 NCMAP nsv5431356 1 24897864 24897925 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900365 M 3202 0 1 NCMAP nsv5956867 1 24900443 24900443 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17369422 M 914 1 0 NCMAP nsv6329679 1 24903916 24904001 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200684 M 19652 1 0 NCMAP nsv5690435 1 24903922 24903922 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17187524 M 3202 1 0 NCMAP nsv834458 1 24904319 24996135 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444096 M 95 0 1 NCMAP,SRRM1 nsv6328039 1 24914053 24917292 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059799 M 19652 0 1 NCMAP nsv6335580 1 24919405 24923731 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200686 M 19652 1 0 NCMAP esv3664148 1 24919708 24919708 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486937 M 20 1 0 NCMAP nsv6537367 1 24919957 24920477 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251453 M 19652 0 0 NCMAP dgv127n223 1 24925114 24925723 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6553329,nsv6548637 M 19652 0 0 NCMAP esv3664156 1 24925201 24925201 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486944 M 20 1 0 NCMAP nsv5983244 1 24926136 24926273 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517954 M 405 0 1 NCMAP nsv5561878 1 24928297 24928424 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900369 M 3202 0 0 NCMAP nsv5416603 1 24928502 24929443 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900370 M 3202 0 1 NCMAP esv1961948 1 24928605 24929273 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4674738 M 1 0 1 NCMAP NA18507 nsv5580460 1 24928795 24929080 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063891 M 35 0 1 NCMAP NA19238 nsv5884378 1 24928795 24929080 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364492 M 914 0 1 NCMAP esv2665308 1 24928795 24929081 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6447770,essv5705755,essv5722616,essv6077142,essv6432556,essv5593183,essv6494969,essv5765750,essv6496607,essv5604401,essv6319652,essv6500505,essv5746116,essv6387852,essv5411889,essv5912861,essv5984778,essv6526222,essv6104522,essv6013804,essv5712599,essv6358573,essv5939585,essv5969827,essv5634883,essv6421404,essv5604757,essv5511314,essv6240158,essv5569192,essv5734067,essv5972078,essv6199634,essv6387071,essv6355607,essv5528341,essv6433569,essv5816663,essv5756969,essv6465990,essv6408206,essv6188318,essv6022447,essv5964681,essv5479800 M 1151 0 45 NCMAP HG01051,HG01098,HG01366,HG01390,NA18486,NA18498,NA18511,NA18522,NA18853,NA18871,NA18874,NA18910,NA18912,NA18916,NA18923,NA19093,NA19189,NA19197,NA19210,NA19238,NA19240,NA19311,NA19332,NA19360,NA19371,NA19372,NA19379,NA19384,NA19401,NA19404,NA19429,NA19436,NA19443,NA19445,NA19446,NA19457,NA19469,NA19703,NA19704,NA19834,NA19908,NA19916,NA19917,NA20341,NA20348 nsv6330949 1 24928795 24929081 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059807 M 19652 0 1 NCMAP dgv150n152 1 24928796 24929082 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3187949,nsv3520112 M 9 0 2 NCMAP NA19238,NA19240 nsv3322937 1 24928797 24929082 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14486510,nssv14488402 M 14 0 2 NCMAP HG02818,NA19240 nsv5419631 1 24928812 24929081 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900371 M 3202 0 1 NCMAP nsv4034165 1 24928812 24929353 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851587 M 10847 0 1 NCMAP nsv4038953 1 24930561 24931116 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851588 M 10847 0 1 NCMAP nsv6333676 1 24930692 24935291 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059809 M 19652 0 1 NCMAP nsv5616438 1 24931123 24931123 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063899 M 35 1 0 NCMAP HG02818 nsv3322939 1 24931141 24931141 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480724 M 14 1 0 NCMAP HG02818 esv3664162 1 24933737 24933737 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486950 M 20 1 0 NCMAP nsv6545656 1 24940093 24940765 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251459 M 19652 0 0 "" nsv473361 1 24940374 24940374 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012740 M 9 1 0 "" NA19129 nsv6328863 1 24940531 24949655 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059816 M 19652 0 1 "" esv2560351 1 24940648 24941441 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5277621 M 1 1 0 "" NA18507 nsv6550964 1 24940742 24941762 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251460 M 19652 0 0 "" nsv4516993 1 24940988 24941265 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851589 M 10847 0 1 "" esv3664169 1 24941265 24941265 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486956 M 20 1 0 "" nsv3522737 1 24941265 24941265 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391802,nssv14413823 M 9 2 0 "" HG00514,NA19240 nsv5397660 1 24941265 24941265 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900372 M 3202 1 0 "" nsv5610416 1 24941265 24941265 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063751 M 35 1 0 "" HG00732 nsv5953191 1 24941265 24941265 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358223 M 914 1 0 "" nsv4536183 1 24941265 24941266 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030268 M 10847 1 0 "" nsv3323093 1 24941266 24941266 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14474932,nssv14481105,nssv14482523,nssv14479752,nssv14475201,nssv14491149,nssv14483440 M 14 7 0 "" HG00268,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4756555 1 24941271 24941271 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16261514 M 25 1 0 "" nsv6045940 1 24941273 24941273 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532502 M 405 1 0 "" nsv3561810 1 24941277 24941277 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357222,nssv14357224,nssv14357220,nssv14357223,nssv14357219,nssv14357221 M 9 6 0 "" HG00513,HG00514,HG00732,NA19238,NA19239,NA19240 nsv5682507 1 24941277 24941277 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17187792,nssv17205711 M 3202 2 0 "" nsv6258016 1 24941277 24941277 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841868 M 1021 1 0 "" nsv3051688 1 24941278 24941278 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14016670 M 2 1 0 "" NA12878 nsv6258027 1 24943827 24943827 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841869 M 1021 1 0 "" nsv5681463 1 24949050 24949050 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205712 M 3202 1 0 "" nsv4461328 1 24949050 24949051 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030277 M 10847 1 0 "" nsv5611962 1 24949387 24949387 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063757 M 35 1 0 "" NA19239 nsv3322486 1 24949388 24949388 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14490320 M 14 1 0 "" NA19434 esv3664175 1 24952185 24952185 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486961 M 20 1 0 "" nsv6318715 1 24953844 24968899 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059835 M 19652 0 1 "" nsv6549205 1 24957240 24957581 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251464 M 19652 0 0 "" nsv5581355 1 24958354 24958493 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064201 M 35 0 1 "" NA19239 nsv5884275 1 24958354 24958493 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362316 M 914 0 1 "" nsv1122311 1 24958354 24958494 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970518 M 2 0 1 "" KWS2 nsv3194498 1 24958354 24958494 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357275 M 9 0 1 "" NA19239 nsv4737905 1 24958354 24958494 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16276956 M 25 0 1 "" nsv5420004 1 24958354 24958494 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900376 M 3202 0 1 "" nsv5983402 1 24958354 24958494 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530829 M 405 0 1 "" nsv6138547 1 24958355 24958737 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900377 M 3202 0 1 "" nsv4040131 1 24958355 24958917 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851590 M 10847 0 1 "" nsv3322493 1 24958356 24958495 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489399 M 14 0 1 "" NA19434 nsv160922 1 24958744 24967010 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179500 M 24 "" nsv6323854 1 24961092 24961681 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200699 M 19652 1 0 "" nsv6138768 1 24961187 24961499 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900378 M 3202 1 0 "" nsv6057639 1 24961297 24961297 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519279 M 405 1 0 "" nsv3925032 1 24961328 24961328 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190896 M 1 1 0 "" HG002 nsv5619153 1 24961328 24961328 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064210 M 35 1 0 "" HG00512 nsv3523886 1 24961426 24961426 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413824 M 9 1 0 "" HG00514 nsv2801475 1 24961449 24961449 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694355 M 2 1 0 "" nsv3322495 1 24961449 24961449 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14489047,nssv14491318,nssv14480730,nssv14489982,nssv14483648 M 14 5 0 "" CHM1,HG00514,HG01352,HG02106,NA19240 nsv3522504 1 24961498 24961498 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376900 M 9 1 0 "" NA19240 nsv6334094 1 24963079 24967229 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059843 M 19652 0 1 "" nsv6325165 1 24968492 24970591 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200701 M 19652 1 0 SRRM1 nsv4534350 1 24980644 24980645 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030297 M 10847 1 0 SRRM1 nsv947416 1 24984542 24990969 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2766073 M 97 1 0 SRRM1 HGDP00998 nsv460862 1 24986877 25039867 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537354 M 1557 0 1 SRRM1 HGDP00974 nsv545824 1 24986877 25039867 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173800 M 17421 0 1 SRRM1 HGDP00974 nsv5563089 1 24990229 24990642 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902375 M 3202 0 0 SRRM1 esv2745519 1 24994512 24997171 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6877672,essv6729634,essv6766558,essv6797459 M 96 0 4 SRRM1 SSM047,SSM064,SSM072,SSM093 nsv4534170 1 24994630 24994631 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030306 M 10847 1 0 SRRM1 nsv5868984 1 24994638 24997163 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352477 M 914 0 1 SRRM1 nsv4756596 1 24994641 24994641 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16276368 M 25 1 0 SRRM1 nsv5550375 1 24994642 24994642 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902376 M 3202 1 0 SRRM1 nsv5620589 1 24994642 24994642 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063955 M 35 1 0 SRRM1 HG00512 nsv6057912 1 24994642 24994642 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534484 M 405 1 0 SRRM1 nsv3525829 1 24994642 24997296 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357304 M 9 1 0 SRRM1 HG00512 nsv5553940 1 24994650 24994650 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902377 M 3202 0 0 SRRM1 nsv5871402 1 24995691 24995783 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364860 M 914 0 1 SRRM1 nsv945828 1 24998801 24999568 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766084,nssv1766133,nssv1766080,nssv1766131,nssv1766073,nssv1766134,nssv1766079,nssv1766100,nssv1766074,nssv1766135,nssv1766145,nssv1766151,nssv1766097,nssv1766118,nssv1766087,nssv1766148,nssv1766095,nssv1766156,nssv1766083,nssv1766152,nssv1766093,nssv1766119,nssv1766077,nssv1766153,nssv1766075,nssv1766126,nssv1766147,nssv1766121,nssv1766098,nssv1766108,nssv1766143,nssv1766109,nssv1766091,nssv1766104,nssv1766140,nssv1766150,nssv1766096,nssv1766120,nssv1766078,nssv1766122,nssv1766085,nssv1766125,nssv1766141,nssv1766155,nssv1766065,nssv1766112,nssv1766068,nssv1766117,nssv1766067,nssv1766103,nssv1766088,nssv1766154,nssv1766094,nssv1766116,nssv1766082,nssv1766115,nssv1766086,nssv1766124,nssv1766092,nssv1766157,nssv1766144,nssv1766105,nssv1766142,nssv1766149,nssv1766066,nssv1766111,nssv1766089,nssv1766129,nssv1766069,nssv1766128,nssv1766138,nssv1766099,nssv1766090,nssv1766101,nssv1766139,nssv1766127,nssv1766072,nssv1766110,nssv1766061,nssv1766130,nssv1766076,nssv1766136,nssv1766081,nssv1766132,nssv1766071,nssv1766123,nssv1766146,nssv1766102,nssv1766064,nssv1766106,nssv1766070,nssv1766113,nssv1766063,nssv1766114,nssv1766062,nssv1766137,nssv1766107 M 97 10 0 SRRM1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4461097 1 24999264 24999265 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030876 M 10847 1 0 SRRM1 nsv6543799 1 24999877 25000748 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251485 M 19652 0 0 "" nsv5429129 1 25000253 25000781 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902378 M 3202 0 1 "" nsv6330979 1 25000253 25000781 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059868 M 19652 0 1 "" nsv4039101 1 25000253 25000849 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851591 M 10847 0 1 "" nsv4039305 1 25001849 25006869 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851592 M 10847 0 1 "" nsv5877404 1 25002816 25026722 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358703 M 914 0 1 "" nsv4041323 1 25002824 25026712 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851594 M 10847 0 1 "" nsv5829597 1 25002968 25010806 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466438 M 914 0 0 "" esv3585510 1 25002989 25006222 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892040 M 2504 0 1 "" HG03280 nsv5423839 1 25003004 25006172 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902379 M 3202 0 1 "" nsv4037674 1 25003130 25004492 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851595 M 10847 0 1 "" nsv6543129 1 25005942 25006811 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251487 M 19652 0 0 "" nsv6334925 1 25006859 25011662 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059872 M 19652 0 1 "" nsv6551063 1 25008743 25009811 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251489 M 19652 0 0 "" nsv5869203 1 25009660 25009959 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364576 M 914 0 1 "" nsv6547365 1 25011445 25013016 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251494 M 19652 0 0 "" nsv6326939 1 25013385 25014209 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200716 M 19652 1 0 "" nsv6333005 1 25013719 25014371 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059878 M 19652 0 1 "" nsv6323163 1 25014323 25017103 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200717 M 19652 1 0 "" nsv3524942 1 25016184 25016625 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357335,nssv14357334,nssv14357336 M 9 0 3 "" HG00512,HG00513,NA19238 nsv4037887 1 25016232 25017162 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851596 M 10847 0 1 "" nsv4035460 1 25022259 25022507 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851597 M 10847 0 1 "" nsv6333449 1 25024669 25025996 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059889 M 19652 0 1 "" nsv6330382 1 25025279 25030838 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059890 M 19652 0 1 "" nsv6324436 1 25027592 25030991 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18200723 M 19652 1 0 "" nsv6549624 1 25027893 25028461 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251502 M 19652 0 0 "" nsv5615795 1 25031281 25031281 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17063768 M 35 1 0 "" NA12878 nsv1151933 1 25031290 25034112 CNV deletion John_et_al_2014 26484159 Sequencing nssv3999115 M 1 0 1 "" KWB1 esv3682953 1 25031732 25031874 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467734 M 20 0 1 "" nsv6332393 1 25032869 25033857 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059896 M 19652 0 1 "" nsv6329145 1 25033641 25035411 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059899 M 19652 0 1 "" nsv4036510 1 25033644 25035411 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851598 M 10847 0 1 "" nsv6058693 1 25035865 25035865 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523844 M 405 1 0 "" nsv6335290 1 25036710 25037494 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059900 M 19652 0 1 "" nsv4516883 1 25036711 25037511 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851599 M 10847 0 1 "" nsv5419424 1 25036711 25037548 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902381 M 3202 0 1 "" nsv5885913 1 25045258 25046504 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354562 M 914 0 1 "" nsv4049650 1 25045259 25046523 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851600 M 10847 0 1 "" nsv5416581 1 25045259 25046523 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902383 M 3202 0 1 "" nsv6317665 1 25045259 25046523 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059907 M 19652 0 1 "" nsv5829602 1 25045353 25046552 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456819 M 914 0 0 "" nsv6323380 1 25046351 25053641 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059910 M 19652 0 1 "" nsv6323011 1 25054205 25058196 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059918 M 19652 0 1 "" nsv5883664 1 25055034 25065737 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362647 M 914 0 1 "" nsv4043119 1 25055075 25065738 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851601 M 10847 0 1 "" nsv5414901 1 25055076 25065691 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902384 M 3202 0 1 "" esv3585511 1 25055152 25061253 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892041,essv9892043,essv9892042 M 2504 0 3 "" NA18643,NA18644,NA19917 nsv5829778 1 25055228 25064467 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457345 M 914 0 0 "" nsv5983343 1 25055236 25065651 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530427 M 405 0 1 "" nsv4534563 1 25055854 25055855 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029923 M 10847 1 0 "" nsv4766766 1 25056792 25056792 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16264569 M 25 1 0 "" nsv4444941 1 25056805 25056805 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766000 M 1 1 0 "" nsv6058753 1 25056821 25056821 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523421 M 405 1 0 "" nsv2801487 1 25056822 25056822 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694723 M 2 1 0 "" nsv2801779 1 25056829 25056829 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692091 M 2 1 0 "" nsv3323665 1 25056829 25056829 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488121,nssv14482872,nssv14488344,nssv14485154,nssv14486822,nssv14477684,nssv14477137,nssv14472373,nssv14482155,nssv14475908,nssv14472339,nssv14473912,nssv14484425 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240,NA19434 nsv3541376 1 25056834 25056834 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440518 M 9 1 0 "" HG00733 nsv5616734 1 25056834 25056834 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064097 M 35 1 0 "" HG00731 nsv3532509 1 25056836 25056836 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385992 M 9 1 0 "" NA19240 nsv3536894 1 25056838 25056838 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413825 M 9 1 0 "" HG00514 nsv3951812 1 25056845 25056845 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190897 M 1 1 0 "" HG002 nsv4049110 1 25058605 25061945 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851602 M 10847 0 1 "" nsv6539270 1 25059328 25060218 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251506 M 19652 0 0 "" nsv4560408 1 25061222 25061223 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029932 M 10847 1 0 "" nsv4048629 1 25065140 25065779 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966130 M 10847 1 0 "" nsv4034091 1 25066099 25071562 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851603 M 10847 0 1 "" nsv6327777 1 25066099 25071562 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060157 M 19652 0 1 "" nsv6041075 1 25067521 25067521 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536447 M 405 1 0 "" nsv6325718 1 25070192 25073191 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201295 M 19652 1 0 CLIC4 nsv4051489 1 25070512 25071121 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851605 M 10847 0 1 "" nsv6321044 1 25071005 25073749 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060160 M 19652 0 1 CLIC4 nsv1121757 1 25072300 25072600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968406 M 2 0 1 CLIC4 KWS2 nsv6321209 1 25073936 25081401 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060165 M 19652 0 1 CLIC4 dgv128n223 1 25074485 25075072 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6543567,nsv6547297 M 19652 0 0 CLIC4 nsv6550156 1 25074991 25075508 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251512 M 19652 0 0 CLIC4 nsv4535551 1 25075412 25075413 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030503 M 10847 1 0 CLIC4 nsv6535821 1 25077696 25078157 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251513 M 19652 0 0 CLIC4 esv3585512 1 25077945 25082720 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892044,essv9892046,essv9892045 M 2504 0 3 CLIC4 HG02570,HG03437,NA20351 nsv5417026 1 25078019 25082704 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902387 M 3202 0 1 CLIC4 nsv5692385 1 25078744 25078744 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17187831 M 3202 1 0 CLIC4 nsv5395912 1 25078744 25078795 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683870 M 3202 1 0 CLIC4 esv3585513 1 25079380 25081623 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892047,essv9892049,essv9892048 M 2504 0 3 CLIC4 HG03846,NA20351,NA20903 nsv4046244 1 25079920 25082709 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851606 M 10847 0 1 CLIC4 nsv522437 1 25080522 25186716 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv705795 M 2026 1 0 CLIC4 nsv4518356 1 25083182 25083297 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851607 M 10847 0 1 CLIC4 nsv4033810 1 25085000 25090000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851608 M 10847 0 1 CLIC4 nsv1002864 1 25089510 25122740 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465288 M 11257 0 1 CLIC4 nsv6324626 1 25090846 25116841 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18201302 M 19652 1 0 CLIC4 nsv6537500 1 25094367 25095165 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251515 M 19652 0 0 CLIC4 nsv5421097 1 25096364 25096465 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902388 M 3202 1 0 CLIC4 nsv6054200 1 25096734 25096734 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519092 M 405 1 0 CLIC4 dgv129n223 1 25100701 25101098 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6541384,nsv6555446 M 19652 0 0 CLIC4 esv3664181 1 25101715 25101715 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486967 M 20 1 0 CLIC4 nsv5693587 1 25102072 25102072 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17186990 M 3202 1 0 CLIC4 nsv5550196 1 25102072 25102107 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902391 M 3202 1 0 CLIC4 esv3585514 1 25102716 25104289 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892050 M 2504 0 1 CLIC4 HG03787 nsv5427127 1 25102717 25104286 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683871 M 3202 0 1 CLIC4 nsv6540385 1 25107331 25107968 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251521 M 19652 0 0 CLIC4 nsv5730500 1 25108458 25108458 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17235747,nssv17245586 M 3202 2 0 CLIC4 nsv6328065 1 25109992 25111491 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060195 M 19652 0 1 CLIC4 nsv1014245 1 25110904 25170011 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3476665 M 11257 1 0 CLIC4 nsv6549291 1 25112310 25113160 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251523 M 19652 0 0 CLIC4 nsv5417683 1 25113234 25114522 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902392 M 3202 1 0 CLIC4 nsv5887432 1 25114067 25114385 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367856 M 914 0 1 CLIC4 nsv6258038 1 25116197 25116197 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841870 M 1021 1 0 CLIC4 nsv7076 1 25116318 25196628 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv3984,nssv973,nssv1983 M 9 0 3 CLIC4 NA12878,NA18555,NA19240 nsv4041033 1 25117117 25123836 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851609 M 10847 0 1 CLIC4 nsv1113090 1 25123616 25123678 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967982 M 2 0 1 CLIC4 KWS2 nsv3195437 1 25124698 25190264 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14257111,nssv14257112 M 9 0 2 CLIC4 HG00514,HG00733 nsv4449392 1 25126198 25126495 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15759889 M 1 0 1 CLIC4 nsv5608880 1 25126204 25126204 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064232 M 35 1 0 CLIC4 HG03371 nsv2801149 1 25126252 25126500 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13695652 M 2 0 1 CLIC4 nsv3323169 1 25126252 25126500 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14812198,nssv14814175 M 14 0 2 CLIC4 CHM1,NA12878 nsv4746802 1 25126282 25126581 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16266923 M 25 0 1 CLIC4 dgv151n152 1 25126391 25126699 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3279904,nsv3281352,nsv3280257 M 9 0 3 CLIC4 HG00514,HG00733,NA19240 nsv3945855 1 25126406 25126702 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181284 M 1 0 1 CLIC4 HG002 nsv5983352 1 25126406 25126728 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531679 M 405 0 1 CLIC4 nsv3323170 1 25126407 25126703 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475939,nssv14489679,nssv14487951,nssv14484000,nssv14487998,nssv14472364,nssv14472852,nssv14491674,nssv14490768,nssv14477010,nssv14479443 M 14 0 11 CLIC4 CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240 nsv2801150 1 25126408 25126703 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13695416 M 2 0 1 CLIC4 nsv5577177 1 25126415 25126724 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064233 M 35 0 1 CLIC4 HG00731 nsv3323171 1 25126441 25126568 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14814633 M 14 0 1 CLIC4 NA19434 nsv3322747 1 25126550 25126678 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14814176 M 14 0 1 CLIC4 NA12878 nsv3323682 1 25126665 25126789 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14814634 M 14 0 1 CLIC4 NA19434 nsv4741538 1 25130854 25130939 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259728 M 25 0 1 CLIC4 nsv6554077 1 25141746 25142744 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251528 M 19652 0 0 CLIC4 nsv4033281 1 25144944 25145030 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851610 M 10847 0 1 CLIC4 nsv5415836 1 25144944 25145030 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902393 M 3202 0 1 CLIC4 nsv4045750 1 25146517 25148317 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851611 M 10847 0 1 CLIC4 nsv6047398 1 25146552 25146552 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523269 M 405 1 0 CLIC4 nsv6549184 1 25148881 25150014 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251531 M 19652 0 0 CLIC4 nsv5426550 1 25150002 25150152 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902395 M 3202 1 0 CLIC4 nsv6542261 1 25150206 25151003 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251533 M 19652 0 0 CLIC4 nsv4571880 1 25153376 25153377 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030512 M 10847 1 0 CLIC4 esv2525447 1 25157720 25161753 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5183045 M 1 0 1 CLIC4 NA18507 nsv6542693 1 25158190 25162107 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251536 M 19652 0 0 CLIC4 esv7429 1 25158426 25161724 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29870 M 1 0 0 CLIC4 esv2082154 1 25158490 25161719 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4974766 M 1 0 1 CLIC4 NA18507 nsv511684 1 25158545 25161741 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626323 M 1 0 1 CLIC4 1 esv3559454 1 25158620 25161782 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758201 M 767 0 1 CLIC4 esv3809 1 25158670 25161579 CNV loss Wang_et_al_2008 18987735 Sequencing essv26250 M 1 0 1 CLIC4 YH esv2745530 1 25158671 25161525 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880425,essv6868722,essv6883262,essv6865263,essv6871727,essv6954761,essv6885990,essv6742152,essv6892328,essv6718172,essv6889015,essv6735983,essv6874719,essv6682837,essv6895853,essv6821194,essv6877673,essv6744947,essv6898618,essv6748520,essv6839985,essv6669332,essv6836197,essv6917446,essv6906104,essv6859203,essv6910059,essv6801625,essv6902549,essv6710600,essv6686160,essv6785002,essv6916819,essv6689273,essv6675210,essv6696997,essv6941797,essv6729635,essv6668971,essv6793304,essv6843900,essv6707277,essv6780884,essv6797460,essv6829022,essv6937691,essv6789164,essv6914006,essv6929066,essv6725856,essv6692781,essv6804409,essv6766559,essv6813179,essv6921737,essv6832608,essv6843932,essv6776946,essv6810345,essv6824991,essv6946510,essv6738818,essv6747793,essv6925701,essv6750616,essv6714256,essv6773446,essv6816809,essv6769532,essv6764172,essv6967942,essv6699602,essv6972366,essv6950329,essv6722016,essv6807382,essv6733494,essv6753507,essv6761869,essv6961576,essv6847037,essv6802265,essv6876998,essv6853252,essv6759058,essv6756560,essv6679183,essv6816596,essv6695765,essv6784754,essv6703870,essv6950575,essv6666908,essv6933319,essv6863969,essv6719020 M 96 0 96 CLIC4 SSM001,SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM008,SSM009,SSM010,SSM011,SSM012,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM030,SSM031,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM057,SSM058,SSM059,SSM061,SSM062,SSM063,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM079,SSM080,SSM081,SSM082,SSM083,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM092,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099,SSM100 nsv1076284 1 25158679 25161511 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769872 M 1 0 1 CLIC4 KWP1 nsv5567075 1 25158687 25161508 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064255 M 35 0 1 CLIC4 HG00731 nsv5870293 1 25158687 25161508 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369192 M 914 0 1 CLIC4 nsv3942230 1 25158687 25161509 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181285 M 1 0 1 CLIC4 HG002 nsv4449157 1 25158687 25161509 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15763513 M 1 0 1 CLIC4 esv3682963 1 25158687 25161510 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467743 M 20 0 1 CLIC4 dgv63n106 1 25158687 25161512 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1116021,nsv1137743 M 2 0 2 CLIC4 KWS1,KWS2 nsv498666 1 25158687 25161526 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585426 M 9 0 1 CLIC4 dgv152n152 1 25158688 25161510 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280596,nsv3526267 M 9 0 9 CLIC4 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv2801497 1 25158689 25161510 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13706791 M 2 0 1 CLIC4 nsv3323183 1 25158689 25161510 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14812043,nssv14813384,nssv14812961,nssv14814388,nssv14812756,nssv14814177,nssv14812369,nssv14814635,nssv14812199,nssv14813829,nssv14812553,nssv14814008,nssv14813171,nssv14813568 M 14 0 14 CLIC4 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 esv995974 1 25158690 25161511 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3571583 M 3 0 1 CLIC4 HuRef nsv5983456 1 25158691 25161509 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536626 M 405 0 1 CLIC4 nsv4737113 1 25158693 25161515 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16274649 M 25 0 1 CLIC4 dgv2n73 1 25158701 25161522 CNV deletion Dogan_et_al_2014 24416366 Sequencing nsv950313,nsv956514 M 1 0 1 CLIC4 BILGI_BIOE nsv4035074 1 25158703 25161509 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851613 M 10847 0 1 CLIC4 nsv5433503 1 25158703 25161509 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902396 M 3202 0 1 CLIC4 esv1446144 1 25158703 25161525 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3781063 M 2 0 1 CLIC4 HuRef esv995045 1 25158703 25164490 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564027 M 3 0 1 CLIC4 HuRef nsv160319 1 25158704 25161525 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178897 M 24 CLIC4 dgv8n140 1 25158704 25161526 CNV deletion Fan_et_al_2017 28104618 Sequencing nsv3065233,nsv3049819 M 2 0 2 CLIC4 CHM1,NA12878 nsv1151632 1 25158720 25161511 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003055 M 1 0 1 CLIC4 KWB1 nsv5693266 1 25161509 25161509 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17187030 M 3202 1 0 CLIC4 nsv6258049 1 25161509 25161509 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841917 M 1021 1 0 CLIC4 nsv4038985 1 25164255 25164319 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851614 M 10847 0 1 CLIC4 nsv4046830 1 25167631 25176306 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851615 M 10847 0 1 CLIC4 nsv6317520 1 25167631 25176306 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060249 M 19652 0 1 CLIC4 nsv945829 1 25169610 25170712 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766186,nssv1766207,nssv1766181,nssv1766204,nssv1766184,nssv1766229,nssv1766187,nssv1766223,nssv1766241,nssv1766211,nssv1766193,nssv1766233,nssv1766183,nssv1766203,nssv1766175,nssv1766230,nssv1766191,nssv1766220,nssv1766189,nssv1766234,nssv1766188,nssv1766210,nssv1766179,nssv1766199,nssv1766244,nssv1766232,nssv1766194,nssv1766228,nssv1766190,nssv1766245,nssv1766172,nssv1766253,nssv1766236,nssv1766231,nssv1766237,nssv1766248,nssv1766178,nssv1766205,nssv1766173,nssv1766215,nssv1766192,nssv1766250,nssv1766185,nssv1766216,nssv1766162,nssv1766197,nssv1766239,nssv1766217,nssv1766165,nssv1766213,nssv1766164,nssv1766200,nssv1766158,nssv1766221,nssv1766163,nssv1766249,nssv1766174,nssv1766219,nssv1766170,nssv1766247,nssv1766169,nssv1766209,nssv1766166,nssv1766218,nssv1766180,nssv1766251,nssv1766177,nssv1766222,nssv1766182,nssv1766225,nssv1766195,nssv1766252,nssv1766235,nssv1766212,nssv1766238,nssv1766214,nssv1766171,nssv1766198,nssv1766240,nssv1766206,nssv1766242,nssv1766246,nssv1766176,nssv1766224,nssv1766161,nssv1766254,nssv1766243,nssv1766226,nssv1766168,nssv1766201,nssv1766167,nssv1766227,nssv1766160,nssv1766208,nssv1766159,nssv1766202,nssv1766196 M 97 10 0 CLIC4 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6329851 1 25170492 25174691 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202778 M 19652 1 0 CLIC4 nsv5427364 1 25177662 25177838 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902397 M 3202 0 1 "" dgv39n166 1 25178153 25184688 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4032774,nsv4046665 M 10847 0 2 "" esv3585515 1 25178181 25184721 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892081,essv9892072,essv9892080,essv9892069,essv9892082,essv9892066,essv9892083,essv9892077,essv9892064,essv9892079,essv9892075,essv9892062,essv9892067,essv9892063,essv9892070,essv9892060,essv9892078,essv9892061,essv9892076,essv9892059,essv9892071,essv9892058,essv9892074,essv9892051,essv9892068,essv9892052,essv9892065,essv9892053,essv9892073,essv9892055,essv9892057,essv9892056,essv9892054 M 2504 0 33 "" HG00099,HG00256,HG01122,HG01170,HG01269,HG01302,HG01525,HG01709,HG01771,HG01790,HG01945,HG02604,HG02737,HG02804,HG03745,HG03792,HG03805,HG03864,HG03869,HG03953,HG04060,HG04061,HG04070,HG04080,HG04100,HG04229,HG04239,NA07347,NA12873,NA19648,NA20891,NA20897,NA21114 esv3559565 1 25178501 25184027 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758312 M 767 0 1 "" nsv6323077 1 25178692 25185091 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060252 M 19652 0 1 "" nsv5573724 1 25178740 25184025 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064171 M 35 0 1 "" NA19650 nsv5876833 1 25178740 25184025 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364943 M 914 0 1 "" nsv5983284 1 25178743 25184027 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536441 M 405 0 1 "" nsv6138977 1 25178744 25184026 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902399 M 3202 0 1 "" esv2666206 1 25178744 25184034 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5663264,essv6375305,essv5789878,essv6128224,essv5595917,essv6257033,essv6495623 M 1151 0 7 "" HG00247,HG00256,HG01170,HG01353,NA07347,NA18613,NA19648 nsv5829319 1 25178778 25184027 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463004 M 914 0 0 "" nsv4033280 1 25182323 25182729 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966131 M 10847 1 0 "" nsv5423964 1 25182323 25182729 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902401 M 3202 1 0 "" nsv6325861 1 25182323 25182729 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202800 M 19652 1 0 "" nsv6325814 1 25183056 25183617 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060253 M 19652 0 1 "" nsv4433106 1 25183219 25185335 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15746462 M 15 0 1 "" SMI034 nsv5430220 1 25188248 25188324 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902402 M 3202 0 1 "" nsv6058789 1 25189962 25189962 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519631 M 405 1 0 "" nsv4037655 1 25191642 25192452 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851618 M 10847 0 1 "" nsv6330363 1 25194006 25198134 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060259 M 19652 0 1 "" nsv6538316 1 25195348 25195925 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251542 M 19652 0 0 "" nsv4040607 1 25198820 25198936 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851619 M 10847 0 1 "" nsv3202244 1 25199458 25206445 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14254836,nssv14254835 M 9 0 2 "" NA19238,NA19240 nsv3183079 1 25201815 25203628 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384515 M 9 0 0 "" NA19240 nsv5829791 1 25201815 25203709 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17449744 M 914 0 0 "" nsv3209891 1 25201821 25203634 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358039,nssv14358040,nssv14358038 M 9 0 3 "" NA19238,NA19239,NA19240 nsv5573681 1 25201821 25203634 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064848 M 35 0 1 "" NA19238 nsv5876443 1 25201821 25203634 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365221 M 914 0 1 "" esv2676912 1 25201821 25203635 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6051384,essv5650557,essv5719706,essv6563092,essv6045505,essv6390559,essv6311922,essv5814707,essv5547532,essv5855472,essv6416129,essv6242585,essv5572604,essv5503349,essv5686297,essv6132954,essv6257988,essv6597131,essv6583252,essv5613087,essv5410620,essv6238313,essv6060659,essv6467934,essv6386766,essv5594196,essv5788096,essv6137910,essv5743179,essv5995495,essv5624314,essv5786661,essv5561533,essv5719321,essv6445070,essv5480758,essv6029705,essv6131769,essv6427064,essv5604107,essv6322336,essv5581784,essv5645591,essv6230682,essv6364089,essv5712086,essv6171360,essv6481745,essv6221636 M 1151 0 49 "" HG00638,HG01101,NA18519,NA18909,NA19099,NA19107,NA19130,NA19238,NA19239,NA19240,NA19256,NA19316,NA19317,NA19319,NA19327,NA19331,NA19332,NA19338,NA19346,NA19347,NA19360,NA19371,NA19373,NA19375,NA19399,NA19428,NA19430,NA19435,NA19436,NA19437,NA19438,NA19440,NA19443,NA19444,NA19446,NA19448,NA19452,NA19453,NA19457,NA19461,NA19462,NA19467,NA19468,NA19469,NA19472,NA19701,NA19703,NA19835,NA19920 nsv3324106 1 25201823 25203636 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477543 M 14 0 1 "" NA19240 esv3585516 1 25201823 25203640 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892151,essv9892085,essv9892152,essv9892086,essv9892150,essv9892084,essv9892149,essv9892192,essv9892158,essv9892148,essv9892201,essv9892185,essv9892198,essv9892182,essv9892199,essv9892166,essv9892206,essv9892179,essv9892196,essv9892175,essv9892202,essv9892178,essv9892188,essv9892176,essv9892195,essv9892180,essv9892186,essv9892164,essv9892189,essv9892168,essv9892205,essv9892159,essv9892204,essv9892165,essv9892190,essv9892154,essv9892203,essv9892171,essv9892194,essv9892181,essv9892200,essv9892167,essv9892187,essv9892160,essv9892191,essv9892173,essv9892197,essv9892174,essv9892193,essv9892161,essv9892115,essv9892162,essv9892120,essv9892155,essv9892135,essv9892163,essv9892109,essv9892156,essv9892144,essv9892184,essv9892125,essv9892172,essv9892138,essv9892169,essv9892121,essv9892183,essv9892113,essv9892177,essv9892126,essv9892157,essv9892131,essv9892170,essv9892133,essv9892153,essv9892104,essv9892093,essv9892134,essv9892091,essv9892112,essv9892089,essv9892127,essv9892096,essv9892145,essv9892102,essv9892140,essv9892092,essv9892110,essv9892090,essv9892123,essv9892103,essv9892129,essv9892098,essv9892118,essv9892097,essv9892147,essv9892099,essv9892146,essv9892088,essv9892143,essv9892087,essv9892106,essv9892095,essv9892117,essv9892101,essv9892132,essv9892094,essv9892130,essv9892100,essv9892116,essv9892108,essv9892139,essv9892124,essv9892141,essv9892128,essv9892136,essv9892107,essv9892114,essv9892137,essv9892119,essv9892111,essv9892122,essv9892105,essv9892142 M 2504 0 123 "" HG00638,HG01101,HG01248,HG01880,HG01882,HG01894,HG01915,HG01958,HG01990,HG02006,HG02010,HG02054,HG02283,HG02308,HG02429,HG02450,HG02455,HG02471,HG02476,HG02479,HG02501,HG02549,HG02585,HG02610,HG02642,HG02716,HG02721,HG02769,HG02807,HG02819,HG02836,HG02840,HG02854,HG02882,HG02922,HG02946,HG02973,HG02979,HG03028,HG03040,HG03048,HG03058,HG03096,HG03099,HG03120,HG03121,HG03132,HG03159,HG03162,HG03163,HG03172,HG03195,HG03196,HG03270,HG03291,HG03343,HG03372,HG03391,HG03410,HG03445,HG03446,HG03449,HG03452,HG03457,HG03514,HG03548,HG03556,HG03557,HG03575,NA18519,NA18865,NA18877,NA18879,NA18909,NA18924,NA19025,NA19026,NA19035,NA19036,NA19037,NA19041,NA19099,NA19107,NA19116,NA19130,NA19131,NA19143,NA19160,NA19171,NA19197,NA19214,NA19238,NA19239,NA19256,NA19316,NA19317,NA19319,NA19323,NA19331,NA19338,NA19346,NA19347,NA19399,NA19428,NA19435,NA19436,NA19440,NA19446,NA19448,NA19452,NA19462,NA19472,NA19701,NA19703,NA19725,NA19835,NA19920,NA20320,NA20321,NA20346,NA20356,NA20357,NA20412 nsv4042917 1 25201825 25203635 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851620 M 10847 0 1 "" nsv5416334 1 25201825 25203635 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902403 M 3202 0 1 "" nsv6317860 1 25201825 25203635 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060269 M 19652 0 1 "" esv26140 1 25201833 25203426 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10325 M 40 0 3 "" NA18909,NA19099,NA19240 nsv5433408 1 25205996 25206231 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902404 M 3202 0 1 "" nsv4573297 1 25207402 25207403 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030824 M 10847 1 0 "" nsv508581 1 25210979 25294719 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622760 M 4 0 1 MIR6731,RUNX3 NA18994 nsv4046260 1 25211415 25211730 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851622 M 10847 0 1 "" nsv4033395 1 25226457 25227951 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851623 M 10847 0 1 RUNX3 nsv4461501 1 25227899 25227900 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030831 M 10847 1 0 RUNX3 nsv4038840 1 25234409 25234789 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851624 M 10847 0 1 RUNX3 nsv5983682 1 25234428 25234504 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520339 M 405 0 1 RUNX3 esv3682966 1 25234593 25234669 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467746 M 20 0 1 RUNX3 nsv4557818 1 25240901 25240902 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030841 M 10847 1 0 RUNX3 nsv4046702 1 25240995 25241616 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851625 M 10847 0 1 RUNX3 nsv4461098 1 25249382 25249383 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030884 M 10847 1 0 RUNX3 nsv5983472 1 25252376 25252555 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522614 M 405 0 1 RUNX3 nsv4032618 1 25252379 25252555 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851626 M 10847 0 1 RUNX3 nsv1077252 1 25256299 25256800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764658 M 1 0 1 RUNX3 KWP1 nsv1136070 1 25256300 25256800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989677 M 2 0 1 RUNX3 KWS2 esv3664203 1 25277695 25277695 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486987 M 20 1 0 RUNX3 nsv4043443 1 25293608 25294064 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851627 M 10847 0 1 "" nsv5614271 1 25299261 25299261 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064615 M 35 1 0 "" HG02587 nsv5620497 1 25302484 25302484 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064441 M 35 1 0 "" HG02587 nsv4040963 1 25306368 25307882 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851628 M 10847 0 1 "" dgv132n100 1 25307672 25719599 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1000112,nsv1010673,nsv1005598 M 11257 4 0 C1orf63,RHCE,RHD,SYF2,TMEM50A esv3576582 1 25307686 25687575 CNV gain Uddin_et_al_2014 25503493 SNP array essv9833422 M 873 1 0 C1orf63,RHD,SYF2,TMEM50A 400113LD nsv6322185 1 25310292 25311991 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060281 M 19652 0 1 "" nsv5423959 1 25310311 25310848 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902406 M 3202 0 1 "" esv3585517 1 25310465 25311018 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892207,essv9892208 M 2504 0 2 "" NA19024,NA19475 nsv1142757 1 25328400 25329000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3994257 M 2 0 1 "" KWS1 nsv4759413 1 25328552 25328552 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16264681 M 25 1 0 "" nsv4745166 1 25328552 25328734 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16270940 M 25 1 0 "" nsv3561688 1 25328555 25328555 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358075 M 9 1 0 "" HG00512 nsv3948891 1 25328555 25328555 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190917 M 1 1 0 "" HG002 nsv4444942 1 25328555 25328555 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15756518 M 1 1 0 "" nsv5608467 1 25328555 25328555 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064616 M 35 1 0 "" NA12878 nsv5951515 1 25328555 25328555 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17355347 M 914 1 0 "" nsv3058852 1 25328556 25328556 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14030384 M 2 1 0 "" CHM1 nsv2801799 1 25328560 25328560 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13696826 M 2 1 0 "" nsv3324110 1 25328560 25328560 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476248,nssv14475585 M 14 2 0 "" CHM1,CHM13 nsv3064105 1 25328561 25328561 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033390 M 2 1 0 "" NA12878 nsv5608925 1 25328566 25328566 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064617 M 35 1 0 "" HG00731 nsv6057802 1 25328597 25328597 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517956 M 405 1 0 "" nsv3323717 1 25328637 25328637 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477257 M 14 1 0 "" HG02818 nsv3056148 1 25328684 25328684 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021820 M 2 1 0 "" NA12878 nsv3539365 1 25328692 25328692 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413827 M 9 1 0 "" HG00514 nsv5611757 1 25328699 25328699 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064618 M 35 1 0 "" HG00731 nsv3175737 1 25328719 25328773 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440519 M 9 0 0 "" HG00733 nsv3323718 1 25328721 25328721 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484058 M 14 1 0 "" NA19434 nsv5612224 1 25328724 25328724 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064619 M 35 1 0 "" NA12878 dgv12e201 1 25328724 25329093 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2745541,esv2745563 M 96 0 6 "" SSM008,SSM011,SSM014,SSM028,SSM035,SSM052 nsv3532168 1 25328749 25328749 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413828 M 9 1 0 "" HG00514 nsv3323719 1 25328773 25328773 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483812 M 14 1 0 "" NA12878 dgv13e201 1 25328814 25329017 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2745552,esv2745574 M 96 0 3 "" SSM011,SSM014,SSM028 nsv3323219 1 25328928 25328928 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482597 M 14 1 0 "" HG00733 dgv153n152 1 25328940 25329005 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3193805,nsv3209470 M 9 0 3 "" HG00731,HG00732,HG00733 nsv3324111 1 25328958 25328958 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474681,nssv14488138 M 14 2 0 "" HG00733,HG02818 nsv3537323 1 25328975 25328975 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440520 M 9 1 0 "" HG00733 nsv6047100 1 25328989 25328989 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537138 M 405 1 0 "" esv3390012 1 25339465 25340363 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692243 M 185 1 0 "" NA19239 esv2745586 1 25346444 25346865 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6793305 M 96 0 1 "" SSM071 nsv5983683 1 25346618 25346702 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524033 M 405 0 1 "" nsv5681378 1 25354737 25354737 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188420 M 3202 1 0 "" esv3664206 1 25356758 25356758 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16486990 M 20 1 0 "" esv3416321 1 25362065 25363763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692244 M 185 1 0 "" NA19240 nsv5983684 1 25362819 25362919 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532818 M 405 0 1 "" esv3412285 1 25364865 25366963 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692245 M 185 1 0 "" NA19239 nsv6330246 1 25365192 25365891 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060282 M 19652 0 1 "" nsv5983685 1 25370529 25383677 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530464 M 405 0 1 "" nsv6055866 1 25371389 25371389 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519665 M 405 1 0 "" nsv4759256 1 25371390 25371390 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16268755 M 25 1 0 "" nsv3539625 1 25371436 25371436 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413829 M 9 1 0 "" HG00514 nsv3053572 1 25371463 25371463 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14028326 M 2 1 0 "" NA12878 nsv3541435 1 25371463 25371463 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373512 M 9 1 0 "" NA19240 nsv3533939 1 25371466 25371466 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440521,nssv14413830 M 9 2 0 "" HG00514,HG00733 nsv3936096 1 25371466 25371466 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15190924 M 1 1 0 "" HG002 nsv4444943 1 25371466 25371466 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757728 M 1 1 0 "" nsv5624322 1 25371466 25371466 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064620 M 35 1 0 "" HG00731 nsv6059653 1 25371466 25371466 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535722 M 405 1 0 "" nsv2802063 1 25371467 25371467 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13707612 M 2 1 0 "" nsv3323720 1 25371467 25371467 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485085,nssv14475809,nssv14473958,nssv14486897,nssv14472921,nssv14478183,nssv14483369,nssv14482933,nssv14484216,nssv14484628,nssv14475397,nssv14491107,nssv14477293,nssv14482851 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv5694146 1 25371468 25371468 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17187902 M 3202 1 0 "" nsv5545136 1 25371468 25371505 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902407 M 3202 1 0 "" nsv5420816 1 25371580 25374296 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900172 M 3202 0 1 "" esv3585518 1 25371593 25374228 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892211,essv9892214,essv9892213,essv9892215,essv9892212,essv9892209,essv9892210 M 2504 0 7 "" HG00306,HG01586,HG03777,HG03856,HG03919,NA20869,NA21087 nsv5682063 1 25380132 25380132 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188435 M 3202 1 0 "" nsv5397751 1 25380132 25380183 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900173 M 3202 1 0 "" esv3670977 1 25380756 25380756 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493084 M 20 1 0 "" nsv3946150 1 25380756 25380756 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191467 M 1 1 0 "" HG002 nsv4444700 1 25380756 25380756 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761426 M 1 1 0 "" nsv5615329 1 25380756 25380756 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064621 M 35 1 0 "" HG00731 nsv5958254 1 25380756 25380756 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17368568 M 914 1 0 "" nsv6050606 1 25380756 25380756 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526487 M 405 1 0 "" nsv2802064 1 25380759 25380759 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13705475 M 2 1 0 "" nsv3323721 1 25380759 25380759 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475369,nssv14488215,nssv14480283,nssv14488843,nssv14490199,nssv14486190,nssv14481569,nssv14483786,nssv14491620,nssv14485228,nssv14491777,nssv14482770,nssv14478495,nssv14477575 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3324112 1 25380765 25380765 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473500,nssv14491546,nssv14477598,nssv14473088,nssv14473925 M 14 5 0 "" HG01352,HG04217,NA12878,NA19240,NA19434 nsv3537290 1 25380767 25380767 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413831 M 9 1 0 "" HG00514 nsv3539121 1 25380769 25380769 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379245,nssv14440522 M 9 2 0 "" HG00733,NA19240 esv3667630 1 25380786 25380946 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490071 M 20 0 0 "" nsv3056149 1 25380792 25380792 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025078 M 2 1 0 "" NA12878 nsv4043700 1 25383997 25389741 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851629 M 10847 0 1 "" nsv4044375 1 25387753 25390677 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851630 M 10847 0 1 "" nsv5681373 1 25396454 25396454 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188713 M 3202 1 0 "" nsv5400267 1 25396454 25396505 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900174 M 3202 1 0 "" nsv6319399 1 25398952 25426271 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202823 M 19652 1 0 "" nsv5611168 1 25405627 25405627 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064622 M 35 1 0 "" HG01505 nsv526082 1 25409607 25419442 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv702326 M 2026 0 1 "" nsv471772 1 25410887 25411058 CNV loss Hinds_et_al_2006 16327809 Oligo aCGH,PCR nssv646053 M 95 "" nsv4040371 1 25410944 25411009 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851631 M 10847 0 1 "" nsv5415489 1 25410944 25411009 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900175 M 3202 0 1 "" nsv6320329 1 25424983 25428265 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060283 M 19652 0 1 "" nsv1147290 1 25435159 25435247 CNV insertion John_et_al_2014 26484159 Sequencing nssv4000064 M 1 1 0 "" KWB1 nsv3323220 1 25435347 25435347 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491820,nssv14487903,nssv14485012,nssv14474007,nssv14489382,nssv14488796,nssv14477673,nssv14485244,nssv14478281,nssv14480267 M 14 10 0 "" HG00268,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19434 nsv4762787 1 25435352 25435352 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284896 M 25 1 0 "" nsv3538221 1 25435363 25435363 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375143,nssv14440523,nssv14413832 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3928124 1 25435363 25435363 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191468 M 1 1 0 "" HG002 nsv4444701 1 25435363 25435363 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765560 M 1 1 0 "" nsv5618002 1 25435363 25435363 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064623,nssv17064624 M 35 2 0 "" HG00731,HG03486 nsv6054904 1 25435363 25435363 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533056 M 405 1 0 "" nsv2802065 1 25435364 25435364 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13709535 M 2 1 0 "" nsv3056150 1 25435364 25435364 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14030916 M 2 1 0 "" NA12878 nsv3324113 1 25435364 25435364 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476784,nssv14480170,nssv14482403,nssv14484154,nssv14490952,nssv14479328,nssv14491638,nssv14480404,nssv14484408,nssv14478750,nssv14474296,nssv14485573,nssv14480731 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv5549488 1 25435364 25435387 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900177 M 3202 1 0 "" esv2758928 1 25445510 25463851 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756839 M 270 0 1 "" NA18524 nsv945830 1 25447261 25451779 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766591,nssv1766598,nssv1766590,nssv1766552,nssv1766522,nssv1766551,nssv1766540,nssv1766553,nssv1766529,nssv1766602,nssv1766520,nssv1766601,nssv1766532,nssv1766573,nssv1766537,nssv1766563,nssv1766544,nssv1766545,nssv1766589,nssv1766562,nssv1766534,nssv1766560,nssv1766587,nssv1766603,nssv1766527,nssv1766567,nssv1766259,nssv1766596,nssv1766518,nssv1766572,nssv1766530,nssv1766557,nssv1766593,nssv1766561,nssv1766260,nssv1766548,nssv1766539,nssv1766574,nssv1766585,nssv1766556,nssv1766519,nssv1766546,nssv1766524,nssv1766595,nssv1766543,nssv1766569,nssv1766542,nssv1766597,nssv1766523,nssv1766575,nssv1766531,nssv1766600,nssv1766541,nssv1766568,nssv1766262,nssv1766594,nssv1766261,nssv1766550,nssv1766521,nssv1766578,nssv1766584,nssv1766582,nssv1766536,nssv1766570,nssv1766526,nssv1766576,nssv1766263,nssv1766583,nssv1766586,nssv1766564,nssv1766588,nssv1766554,nssv1766525,nssv1766549,nssv1766528,nssv1766558,nssv1766535,nssv1766577,nssv1766533,nssv1766571,nssv1766255,nssv1766565,nssv1766538,nssv1766579,nssv1766258,nssv1766581,nssv1766517,nssv1766599,nssv1766592,nssv1766555,nssv1766257,nssv1766559,nssv1766516,nssv1766580,nssv1766256,nssv1766566,nssv1766547 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5619964 1 25447977 25447977 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064625 M 35 1 0 "" HG03065 nsv5962863 1 25447977 25447977 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353612 M 914 1 0 "" nsv6055095 1 25447977 25447977 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527476 M 405 1 0 "" nsv5541292 1 25447987 25447987 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900178 M 3202 1 0 "" nsv4460797 1 25452942 25452943 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030909 M 10847 1 0 "" nsv6331273 1 25453057 25458608 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060284 M 19652 0 1 "" nsv523480 1 25459432 25460648 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv699245 M 2026 0 1 "" nsv6552044 1 25469527 25470209 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251545 M 19652 0 0 "" nsv6139082 1 25471837 25471891 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900181 M 3202 1 0 "" nsv6329248 1 25474079 25474582 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202824 M 19652 1 0 "" nsv5607060 1 25476970 25476970 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064626 M 35 1 0 "" NA19650 nsv4039848 1 25477837 25478014 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851632 M 10847 0 1 "" nsv4048908 1 25485896 25486641 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851633 M 10847 0 1 "" nsv5420036 1 25485896 25486641 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900183 M 3202 0 1 "" nsv6321783 1 25485896 25486641 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060285 M 19652 0 1 "" nsv4036175 1 25486492 25491529 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851634 M 10847 0 1 "" nsv6318153 1 25486492 25491529 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060286 M 19652 0 1 "" nsv5424481 1 25492545 25492689 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900184 M 3202 1 0 "" nsv1077255 1 25493099 25493800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768269 M 1 0 1 "" KWP1 nsv5983473 1 25493291 25493432 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521464 M 405 0 1 "" nsv3197602 1 25493295 25493450 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358154 M 9 0 1 "" NA19239 esv2745597 1 25493307 25493450 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6725857 M 96 0 1 "" SSM046 nsv4739720 1 25493348 25493431 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260175 M 25 0 1 "" nsv5618849 1 25493355 25493355 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064627 M 35 1 0 "" NA12878 nsv5583127 1 25493366 25493449 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064628 M 35 0 1 "" NA19238 nsv3935743 1 25493378 25493378 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191482 M 1 1 0 "" HG002 nsv5610118 1 25493378 25493378 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064629 M 35 1 0 "" HG00513 nsv5983521 1 25493390 25493453 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524015 M 405 0 1 "" nsv3324114 1 25493396 25493451 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487128,nssv14490968,nssv14473094,nssv14485417 M 14 0 4 "" HG02059,HG02818,NA19240,NA19434 nsv3282403 1 25493400 25493471 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388887 M 9 0 1 "" NA19240 nsv3323421 1 25493442 25493442 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478620 M 14 1 0 "" NA12878 nsv6050708 1 25493444 25493444 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535879 M 405 1 0 "" nsv3056151 1 25493478 25493478 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019350 M 2 1 0 "" NA12878 nsv6321813 1 25500392 25732091 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202825 M 19652 1 0 C1orf63,RHCE,RHD,SYF2,TMEM50A nsv6544763 1 25503760 25504590 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251546 M 19652 0 0 "" nsv1160388 1 25504296 25593128 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026279 M 369 1 0 C1orf63,SYF2 nsv5983686 1 25504538 25504610 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517600 M 405 0 1 "" nsv4050125 1 25504540 25504610 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851635 M 10847 0 1 "" nsv4043970 1 25504567 25511590 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851636 M 10847 0 1 "" nsv6547497 1 25506102 25507439 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251547 M 19652 0 0 "" nsv6547210 1 25507880 25527214 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251548 M 19652 0 0 "" nsv5558379 1 25507881 25527210 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900185 M 3202 0 0 "" nsv6332096 1 25513573 25515003 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060287 M 19652 0 1 "" nsv818112 1 25519623 25525881 CNV loss Wang_et_al_2007 17921354 SNP array nssv1417310 M 112 0 1 "" NA18608 nsv5983687 1 25520022 25520780 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524934 M 405 0 1 "" nsv7187 1 25523618 25555997 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6432 M 9 1 0 SYF2 NA12156 nsv5612655 1 25527298 25527298 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064630 M 35 1 0 "" NA12329 nsv5868332 1 25527298 25527433 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17365768 M 914 1 0 "" nsv4045751 1 25527298 25527447 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966132 M 10847 1 0 "" nsv5421975 1 25527298 25527447 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900186 M 3202 1 0 "" nsv6554236 1 25529757 25530100 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251549 M 19652 0 0 "" nsv4037556 1 25534311 25539838 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851638 M 10847 0 1 "" esv3585519 1 25535821 25539774 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892216 M 2504 0 1 "" NA19900 nsv5428394 1 25535822 25539659 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900187 M 3202 0 1 "" esv2658297 1 25535878 25539752 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6064166 M 1151 0 1 "" NA19900 nsv6315873 1 25538951 25546444 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060288 M 19652 0 1 "" nsv6316016 1 25540514 25541562 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060289 M 19652 0 1 "" nsv4035561 1 25540989 25543156 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851639 M 10847 0 1 "" nsv6335311 1 25544163 25545650 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060290 M 19652 0 1 "" nsv5428254 1 25544166 25545644 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900188 M 3202 0 1 "" nsv5883508 1 25544238 25544469 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355394 M 914 0 1 "" dgv130n223 1 25550392 25618191 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6325001,nsv6321897 M 19652 2 0 C1orf63,RHD,SYF2 nsv6319333 1 25550392 25687691 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202827 M 19652 1 0 C1orf63,RHD,SYF2,TMEM50A esv3664227 1 25553442 25553442 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487008 M 20 1 0 SYF2 dgv133n100 1 25554509 25688276 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1006609,nsv997277,nsv997459,nsv997585,nsv1000586,nsv1008533,nsv1001418,nsv998928,nsv1003875,nsv1011274,nsv999277,nsv1009563,nsv1007012,nsv1013100,nsv1014746 M 11257 15 0 C1orf63,RHD,SYF2,TMEM50A nsv6554803 1 25556098 25556511 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251550 M 19652 0 0 SYF2 nsv475560 1 25557600 25557600 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015177 M 9 1 0 SYF2 NA19240 dgv134n100 1 25558560 25646974 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1005659,nsv1003163,nsv998556,nsv1010825,nsv1006870,nsv1006754,nsv999496 M 11257 37 0 C1orf63,RHD,SYF2 esv3585520 1 25562502 25567778 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9892217 M 2504 0 1 "" HG01980 nsv5422773 1 25562533 25567778 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900189 M 3202 0 1 "" nsv4535693 1 25563277 25563278 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030927 M 10847 1 0 "" nsv5684480 1 25563293 25563293 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188107,nssv17205713 M 3202 2 0 "" dgv135n100 1 25570830 25628619 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv998391,nsv1014835,nsv1004078,nsv1007623 M 11257 6 0 C1orf63,RHD nsv7298 1 25571068 25672138 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6442,nssv10899,nssv3995,nssv9806 M 9 0 4 C1orf63,RHD,TMEM50A NA12156,NA12878,NA15510,NA18507 nsv232 1 25573018 25672138 CNV deletion Tuzun_et_al_2005 15895083 BAC aCGH,PCR,Sequencing nssv232 M 1 0 1 C1orf63,RHD,TMEM50A NA15510 nsv545825 1 25573522 25646933 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711664 M 17421 0 1 C1orf63,RHD dgv136n100 1 25574459 25663298 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1014241,nsv1011672,nsv1011605,nsv1003885,nsv1007231 M 11257 0 5 RHD nsv4461502 1 25574658 25574659 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030936 M 10847 1 0 "" nsv5682857 1 25574672 25574672 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188552 M 3202 1 0 "" nsv5413468 1 25574672 25574723 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900191 M 3202 1 0 "" nsv1160404 1 25574707 25595881 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026290 M 369 0 1 "" nsv4042931 1 25578400 25578571 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851640 M 10847 0 1 "" esv3559771 1 25578405 25578586 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758518 M 767 0 1 "" nsv5869346 1 25578413 25578585 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359295 M 914 0 1 "" nsv954908 1 25578415 25578661 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000418 M 1 0 1 "" BILGI_BIOE nsv5432732 1 25578419 25578571 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900192 M 3202 0 1 "" nsv4517872 1 25578419 25579046 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851641 M 10847 0 1 "" nsv4048475 1 25581000 25594000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966133 M 10847 1 0 "" nsv834469 1 25582406 25762535 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1444207,nssv1444229,nssv1444240,nssv1444151,nssv1444107,nssv1444118,nssv1444140,nssv1444129,nssv1444162,nssv1444173,nssv1444185,nssv1444196,nssv1444218 M 95 2 11 RHCE,RHD,TMEM50A,TMEM57 dgv137n100 1 25582617 25678377 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008056,nsv1005580,nsv1012311,nsv1011077,nsv1009034,nsv1007615,nsv1014586,nsv1006789,nsv1004985,nsv1000921 M 11257 226 614 RHD,TMEM50A esv2762632 1 25582629 25717365 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7020632,essv7016522,essv7015522,essv7019633,essv7015633,essv7022188,essv7015744,essv7013855,essv7013189,essv7015966,essv7014411,essv7009744,essv7012854,essv7021299,essv7017411,essv7009299,essv7018633,essv7021077,essv7020744,essv7016744,essv7017633,essv7016855,essv7012077,essv7019188,essv7018077,essv7012410,essv7012632,essv7012299,essv7012188,essv7010632,essv7013411,essv7020188,essv7014744,essv7016300,essv7013966,essv7008855,essv7013300,essv7017966,essv7022077,essv7021743,essv7021410,essv7017522,essv7014189,essv7018855,essv7009855,essv7009077,essv7018188,essv7021188,essv7011521,essv7010188,essv7019521,essv7018522,essv7020077,essv7020299,essv7013633,essv7016188,essv7017077,essv7020410,essv7018410,essv7018744,essv7010410,essv7020855,essv7015300,essv7011188,essv7011855,essv7014300,essv7012521,essv7019855,essv7014633,essv7009633,essv7018299,essv7016633,essv7009521,essv7009410,essv7019744,essv7011966,essv7017299,essv7013744,essv7014966,essv7012743,essv7011077,essv7020966,essv7019410,essv7017855,essv7016966,essv7017188,essv7021966,essv7010855,essv7010744,essv7014078,essv7014522,essv7016411,essv7013078,essv7009188,essv7015077,essv7021632,essv7011299,essv7010077,essv7010521,essv7011743,essv7021521,essv7020521,essv7016077,essv7015189,essv7014855,essv7019299,essv7011410,essv7015855,essv7021855,essv7018966,essv7019966,essv7010966,essv7019077,essv7011632,essv7009966,essv7010299,essv7022299,essv7013522,essv7008966,essv7017744,essv7015411,essv7012967 M 1109 5 93 RHCE,RHD,TMEM50A SW_0007,SW_0016,SW_0017,SW_0030,SW_0047,SW_0049,SW_0086,SW_0091,SW_0113,SW_0143,SW_0144,SW_0146,SW_0165,SW_0184,SW_0187,SW_0203,SW_0216,SW_0227,SW_0230,SW_0241,SW_0255,SW_0268,SW_0286,SW_0340,SW_0351,SW_0353,SW_0554,SW_0593,SW_0619,SW_0635,SW_0716,SW_0717,SW_0762,SW_0803,SW_0805,SW_0814,SW_0828,SW_0832,SW_0847,SW_0860,SW_0871,SW_0873,SW_0890,SW_1034,SW_1039,SW_1044,SW_1049,SW_1053,SW_1077,SW_1080,SW_1085,SW_1092,SW_1093,SW_1095,SW_1106,SW_1111,SW_1122,SW_1152,SW_1166,SW_1170,SW_1171,SW_1182,SW_1188,SW_1199,SW_1211,SW_1215,SW_1225,SW_1235,SW_1249,SW_1254,SW_1258,SW_1261,SW_1267,SW_1276,SW_1283,SW_1295,SW_1299,SW_1308,SW_1313,SW_1318,SW_1330,SW_1333,SW_1337,SW_1364,SW_1374,SW_1389,SW_1392,SW_1393,SW_1396,SW_1407,SW_1431,SW_1441,SW_1448,SW_1470,SW_1503,SW_1506,SW_1535,SW_1570 dgv138n100 1 25582831 25646974 CNV gain+loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1011563,nsv1008344,nsv1011287,nsv1007934,nsv1006617,nsv1010467,nsv1009320 M 11257 406 690 RHD nsv5875119 1 25583266 25583347 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358140 M 914 0 1 "" nsv5983474 1 25583266 25583348 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536798 M 405 0 1 "" nsv9768 1 25583315 25767616 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv13413,nssv14751,nssv13764,nssv12770,nssv14101,nssv13434,nssv29252,nssv14742,nssv14749,nssv15435,nssv15763,nssv13771,nssv16428,nssv16744,nssv15102,nssv13086,nssv12772,nssv15450,nssv13743,nssv17074,nssv14745,nssv15105,nssv13438,nssv13108,nssv17404,nssv13416,nssv13418,nssv15434,nssv15433,nssv18443,nssv15111,nssv13083,nssv16094,nssv12776,nssv13100,nssv15764,nssv12115,nssv13088,nssv14417,nssv14747,nssv13106 M 31 21 1 RHCE,RHD,TMEM50A,TMEM57 NA07048,NA10839,NA10847,NA10863,NA12155,NA18502,NA18504,NA18517,NA18537,NA18563,NA18564,NA18572,NA18853,NA18860,NA18942,NA18972,NA18975,NA18980,NA19007,NA19144,NA19221,NA19240 nsv1160536 1 25583341 25662212 CNV deletion Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026301,nssv4026312,nssv4026324,nssv4026335,nssv4026346,nssv4026357,nssv4026368 M 369 0 7 RHD nsv3170011 1 25583341 25662212 CNV deletion Fu_et_al_2018 29476164 SNP array nssv14245984,nssv14251251,nssv14243656,nssv14246012,nssv14251806,nssv14244717,nssv14251262,nssv14251634,nssv14251510,nssv14245186 M 93 0 10 RHD MLY_14,MLY_6,MLY_8,NGO_15,NGO_16,NGO_19,NGO_29,NGO_3,NGO_33,SNI_5 dgv8n97 1 25583341 25673154 CNV deletion Lou_et_al_2014 25026903 SNP array nsv1155377,nsv1155376 M 131 0 38 RHD,TMEM50A nsv822143 1 25585016 25665386 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1422364,nssv1430337,nssv1433413 M 31 0 3 RHD,TMEM50A AK16,NA18526,NA18552 nsv821372 1 25585016 25665432 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420280 M 1 0 1 RHD,TMEM50A NA10851 esv22615 1 25585225 25665195 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv17091,esv19712 M 40 24 6 RHD,TMEM50A NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA12776,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 esv32921 1 25585345 25664858 CNV gain+loss de_Smith_et_al_2007 17666407 Oligo aCGH essv96835,essv101732,essv93733,essv100169,essv95026,essv101286 M 51 3 3 RHD,TMEM50A 21659,21805,21909,21972,22231,22286 dgv3e180 1 25585436 25664813 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array esv1009924,esv990723 M 3 1 0 RHD,TMEM50A HuRef nsv4050030 1 25585995 25586045 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851642 M 10847 0 1 "" esv2745608 1 25586246 25656259 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6756561 M 96 0 1 RHD SSM059 nsv6330438 1 25586253 25667089 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060291 M 19652 0 1 RHD,TMEM50A dgv154n152 1 25586445 25661730 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3203855,nsv3206213 M 9 0 1 RHD HG00733 nsv945831 1 25586521 25619951 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1764634,nssv1764605,nssv1766629,nssv1764620,nssv1766619,nssv1764609,nssv1766616,nssv1764604,nssv1764595,nssv1764608,nssv1766635,nssv1764621,nssv1764638,nssv1764622,nssv1766620,nssv1764606,nssv1766632,nssv1764618,nssv1766625,nssv1764627,nssv1766618,nssv1764614,nssv1766637,nssv1764619,nssv1766617,nssv1764598,nssv1766626,nssv1764611,nssv1764629,nssv1764607,nssv1766623,nssv1764597,nssv1766622,nssv1764623,nssv1766638,nssv1764600,nssv1764632,nssv1764624,nssv1766627,nssv1764612,nssv1766633,nssv1764601,nssv1766604,nssv1764628,nssv1764636,nssv1764617,nssv1766610,nssv1764602,nssv1766611,nssv1764626,nssv1766631,nssv1764613,nssv1766608,nssv1764625,nssv1766636,nssv1764603,nssv1766612,nssv1764599,nssv1764630,nssv1764615,nssv1766609,nssv1764616,nssv1766634,nssv1764610,nssv1766615,nssv1766605,nssv1766621,nssv1764637,nssv1764633,nssv1766607,nssv1764596,nssv1766614,nssv1766630,nssv1766613,nssv1764635,nssv1766606,nssv1766628,nssv1764594,nssv1766624,nssv1764631 M 97 10 0 RHD HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4045319 1 25587000 25592000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851643 M 10847 0 1 "" nsv5983688 1 25587897 25657558 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17518906 M 405 1 0 RHD nsv5615313 1 25588062 25588062 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064632 M 35 1 0 "" HG03732 dgv9n145 1 25588943 25665655 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nsv3115968,nsv3111094 M 467 0 7 RHD,TMEM50A sample11,sample167,sample235,sample278,sample375,sample423,sample71 nsv5829917 1 25589057 25591989 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459595,nssv17454087 M 914 0 0 "" dgv200n54 1 25589146 25627332 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545826,nsv545830,nsv545833 M 17421 0 11 RHD esv2421857 1 25589146 25662212 CNV deletion Altshuler_et_al_2010 20811451 SNP array essv5087858,essv5014510,essv5140020,essv5139792,essv5056082,essv5147588,essv5078460,essv5152295,essv5024098,essv5142820,essv5067460,essv5069482,essv5064974,essv5065254,essv5158850,essv5014373,essv5130740,essv5116136,essv5037688,essv5063196,essv5076093,essv5120048,essv5124430,essv5013628,essv5022476,essv5002344,essv5145070,essv5073065,essv5028365,essv5026565,essv5128978,essv5044349,essv5111192,essv5124630,essv5015825,essv5072538,essv5050338,essv5083463,essv5085338,essv5024116,essv5113903,essv5137440,essv5136938,essv5040974,essv5059401,essv5059333,essv5157994,essv5121511,essv5135973,essv5037674,essv5046028,essv5147272,essv5057653,essv5128183,essv5099909,essv5145360,essv5134977,essv5051480,essv5080281,essv5065928,essv5041714,essv5144277,essv5059254,essv5142656,essv5091094,essv5057263,essv5128172,essv5007672,essv5003442,essv5022767,essv5150619,essv5120740,essv5066634,essv5050776,essv5116489,essv5132018,essv5135986,essv5073403,essv5024154,essv5147839,essv5055329,essv5138781,essv5070189,essv5151355,essv5117026,essv5056058,essv5147945,essv5017876,essv5026235,essv5131476,essv5094025,essv5010813,essv5025216,essv5091462,essv5095663,essv5106070,essv5035986,essv5042185,essv5122992,essv5025505,essv5008221,essv5083652,essv5027267,essv5147815,essv5016370,essv5124398,essv5111735,essv5047169,essv5024213,essv5037645,essv5105430,essv5008817,essv5143138,essv5017327,essv5089478,essv5025353,essv5110081,essv5157141,essv5107616,essv5111829,essv5011384,essv5080575,essv5039765,essv5078911,essv5157623,essv5115091,essv5155647,essv5020784,essv5030807,essv5085137,essv5066670,essv5046014,essv5109954,essv5003958,essv5009382,essv5094386,essv5063006,essv5037893,essv5119807,essv5032508,essv5039122,essv5156244,essv5152069,essv5105085,essv5138177,essv5105366,essv5046481,essv5067947,essv5088120,essv5125283,essv5082883,essv5127709,essv5048844,essv5080467,essv5059029,essv5113628,essv5129477,essv5082433,essv5003366,essv5150816,essv5023035,essv5022144,essv5121794,essv5088678,essv5112124,essv5118565,essv5133792,essv5045154,essv5004232,essv5150897,essv5048597,essv5056096,essv5096259,essv5007066,essv5123095,essv5012855,essv5058251,essv5133094,essv5008097,essv5080950,essv5130794,essv5049421,essv5058796,essv5047766,essv5042292,essv5135855,essv5033407,essv5157836,essv5097618,essv5038039,essv5029243,essv5122105,essv5094217,essv5067157,essv5054376,essv5082929,essv5029065,essv5158031,essv5158180,essv5095554,essv5096398,essv5118360,essv5007440,essv5043793,essv5033550,essv5092242,essv5032861,essv5145086,essv5143932,essv5012871,essv5026739,essv5065734,essv5070008,essv5159704,essv5149063,essv5047250,essv5113984,essv5116093,essv5158951,essv5045453,essv5080406,essv5130660,essv5139596,essv5065371,essv5054446,essv5130404,essv5025602,essv5149523,essv5065634,essv5068330,essv5082163,essv5018977,essv5012416,essv5079399,essv5002155,essv5081685,essv5158896,essv5114671,essv5156202,essv5137751,essv5136889,essv5028430,essv5044859,essv5047152,essv5016021,essv5076452,essv5137308,essv5078382,essv5002183,essv5116864,essv5030906,essv5158872,essv5152554,essv5079054,essv5077667,essv5036702,essv5064492,essv5142370,essv5028311,essv5130611,essv5115319,essv5108293,essv5079981,essv5056633,essv5152955,essv5058426,essv5076833,essv5090060,essv5053175,essv5136383,essv5004352,essv5087709,essv5091441,essv5155256,essv5037110,essv5143595,essv5109647,essv5010857,essv5047101,essv5109869,essv5035013,essv5124582,essv5034340,essv5017260,essv5128345,essv5058769,essv5154775,essv5141369,essv5014447,essv5068241,essv5098695,essv5113590,essv5141412,essv5129683,essv5116211,essv5108701,essv5058217,essv5002879,essv5023208,essv5048811,essv5034606,essv5146558,essv5003311,essv5017143,essv5140307,essv5134564,essv5021447,essv5125910,essv5130239,essv5128808,essv5009459,essv5034343,essv5113423,essv5133133,essv5134935,essv5018521,essv5091674,essv5079059,essv5160623,essv5020838,essv5076799,essv5055292,essv5122226,essv5153623,essv5124283,essv5093377,essv5033012,essv5125105,essv5039265,essv5130187,essv5018506,essv5133513,essv5016090,essv5009799,essv5023178,essv5094802,essv5053235,essv5099229,essv5073133,essv5053567,essv5005217,essv5109110,essv5114255,essv5075759,essv5090256,essv5003226,essv5058514,essv5059195,essv5125039,essv5062085,essv5131302,essv5024612,essv5089622,essv5055624,essv5057948,essv5147235,essv5015901,essv5078218,essv5053389,essv5118896,essv5033301,essv5069190,essv5060529,essv5154564,essv5033778,essv5004315,essv5108066,essv5151593,essv5123139,essv5106123,essv5017565,essv5132115,essv5151764,essv5010391,essv5046501,essv5153490,essv5007583,essv5087504,essv5088003,essv5049893,essv5089551,essv5159485,essv5106367,essv5135218,essv5157677,essv5113393,essv5016506,essv5044887,essv5105392,essv5064696,essv5128108,essv5097823,essv5146020,essv5050184,essv5133677,essv5141824,essv5145980,essv5089045,essv5118643,essv5066801,essv5040904,essv5055335,essv5009261,essv5016991,essv5148164,essv5014537,essv5151146,essv5142111,essv5025268,essv5153011,essv5122788,essv5054650,essv5021910,essv5108756,essv5033915,essv5138232,essv5088421,essv5047974,essv5003234 M 1184 0 419 RHD NA06984,NA06985,NA06989,NA06991,NA06993,NA06994,NA06995,NA06997,NA07022,NA07029,NA07031,NA07037,NA07045,NA07055,NA07056,NA07346,NA07349,NA07357,NA10830,NA10831,NA10835,NA10837,NA10838,NA10839,NA10843,NA10852,NA10853,NA10854,NA10855,NA10856,NA10859,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11882,NA11893,NA11917,NA11918,NA11919,NA11920,NA11930,NA11931,NA11992,NA11993,NA12003,NA12005,NA12006,NA12043,NA12044,NA12045,NA12056,NA12057,NA12144,NA12145,NA12154,NA12156,NA12234,NA12248,NA12272,NA12273,NA12282,NA12283,NA12335,NA12336,NA12340,NA12341,NA12342,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12400,NA12413,NA12489,NA12546,NA12707,NA12708,NA12716,NA12740,NA12751,NA12752,NA12753,NA12761,NA12763,NA12766,NA12775,NA12776,NA12802,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12878,NA12890,NA12891,NA17980,NA17993,NA18102,NA18122,NA18154,NA18157,NA18159,NA18484,NA18488,NA18497,NA18507,NA18515,NA18516,NA18518,NA18519,NA18520,NA18526,NA18546,NA18552,NA18571,NA18599,NA18609,NA18613,NA18614,NA18615,NA18620,NA18631,NA18636,NA18640,NA18704,NA18855,NA18861,NA18863,NA18867,NA18869,NA18871,NA18872,NA18940,NA18946,NA18955,NA18960,NA18964,NA18994,NA19001,NA19054,NA19066,NA19075,NA19078,NA19079,NA19094,NA19095,NA19102,NA19107,NA19109,NA19117,NA19118,NA19122,NA19131,NA19132,NA19140,NA19141,NA19143,NA19146,NA19154,NA19171,NA19172,NA19173,NA19174,NA19175,NA19176,NA19181,NA19192,NA19193,NA19194,NA19200,NA19202,NA19203,NA19206,NA19209,NA19211,NA19214,NA19221,NA19222,NA19236,NA19237,NA19309,NA19317,NA19327,NA19350,NA19375,NA19379,NA19380,NA19382,NA19435,NA19448,NA19474,NA19649,NA19650,NA19652,NA19653,NA19654,NA19658,NA19659,NA19661,NA19662,NA19678,NA19680,NA19684,NA19685,NA19686,NA19700,NA19703,NA19716,NA19746,NA19749,NA19751,NA19773,NA19776,NA19778,NA19782,NA19784,NA19794,NA19819,NA19828,NA19900,NA19901,NA20276,NA20277,NA20279,NA20284,NA20287,NA20288,NA20289,NA20290,NA20297,NA20317,NA20319,NA20332,NA20333,NA20334,NA20335,NA20336,NA20342,NA20343,NA20344,NA20345,NA20349,NA20350,NA20356,NA20360,NA20363,NA20504,NA20505,NA20506,NA20509,NA20512,NA20516,NA20518,NA20519,NA20522,NA20524,NA20528,NA20529,NA20530,NA20534,NA20538,NA20539,NA20540,NA20541,NA20543,NA20586,NA20589,NA20752,NA20754,NA20755,NA20756,NA20759,NA20760,NA20761,NA20765,NA20766,NA20768,NA20770,NA20771,NA20773,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20792,NA20796,NA20797,NA20801,NA20807,NA20808,NA20809,NA20811,NA20813,NA20819,NA20826,NA20846,NA20847,NA20849,NA20851,NA20852,NA20854,NA20858,NA20859,NA20861,NA20870,NA20871,NA20873,NA20875,NA20879,NA20882,NA20884,NA20885,NA20888,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20899,NA20900,NA20902,NA20904,NA20908,NA20911,NA21089,NA21090,NA21091,NA21092,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21107,NA21113,NA21115,NA21117,NA21118,NA21123,NA21137,NA21141,NA21143,NA21144,NA21295,NA21301,NA21302,NA21303,NA21333,NA21339,NA21353,NA21356,NA21359,NA21367,NA21371,NA21381,NA21385,NA21386,NA21390,NA21391,NA21399,NA21401,NA21402,NA21403,NA21404,NA21405,NA21423,NA21424,NA21434,NA21435,NA21436,NA21441,NA21473,NA21475,NA21478,NA21480,NA21488,NA21489,NA21490,NA21524,NA21574,NA21575,NA21583,NA21599,NA21600,NA21601,NA21631,NA21635,NA21636,NA21647,NA21648,NA21678,NA21717,NA21718,NA21738,NA21740,NA21825 dgv201n54 1 25589146 25665971 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545831,nsv545827,nsv545828,nsv545841,nsv545840,nsv545839,nsv545838,nsv545842 M 17421 0 44 RHD,TMEM50A nsv433185 1 25589623 25664666 CNV loss Cooper_et_al_2008 18776910 SNP array nssv463066 M 9 0 1 RHD NA12156 nsv5829956 1 25589666 25590881 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468760,nssv17467451 M 914 0 0 "" nsv950324 1 25590601 25662700 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997099 M 1 0 1 RHD BILGI_BIOE nsv820028 1 25590778 25664198 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418757 M 2 1 0 RHD AK1 esv2677880 1 25590945 25662792 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5800248,essv6125030,essv5540999,essv6512070,essv5466236 M 1151 0 5 RHD HG01516,HG01518,HG01519,HG01521,HG01522 nsv498667 1 25590970 25662955 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585437 M 9 0 1 RHD nsv1077261 1 25591299 25610400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764265 M 1 0 1 RHD KWP1 nsv5414433 1 25591332 25591889 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900193 M 3202 0 1 "" nsv5416090 1 25591572 25661654 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900194 M 3202 0 1 RHD esv2656832 1 25591745 25610392 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6310525,essv5969740,essv5902927,essv5768634,essv6296342,essv6465670,essv5588552,essv6120121,essv6260838,essv6361179,essv6415878,essv5870973,essv5615723,essv5903420,essv6586123,essv5521057,essv5632957,essv6121943,essv5676232,essv6534784,essv6575867,essv6062519,essv5727396,essv6052654,essv5867377,essv6237647,essv5451781,essv5706326,essv5920003,essv6597030,essv5653207,essv6570509,essv6063162,essv6544420,essv6107254,essv5770421,essv6461358,essv6316228,essv6482795,essv6587900,essv6258093,essv6412577,essv5611603,essv5735325,essv5777756,essv5432168,essv5416946,essv5767672,essv5741443,essv6057359,essv5553671,essv6227566,essv5775494,essv6016439,essv5916446,essv6287382,essv5781714,essv5562400,essv5676997,essv6042063,essv6139482,essv5990190,essv5828384,essv6337337,essv5939418,essv5490325,essv5703613,essv6222588,essv5980877,essv5600122,essv5584210,essv6414935,essv6033167,essv6079016,essv6191013,essv6435338,essv5516471,essv6208047,essv5636855,essv6209943,essv6149601,essv5887710,essv6570589,essv6567765,essv6354502,essv5571873,essv6024054,essv6049915,essv5796702 M 1151 0 89 RHD HG00096,HG00100,HG00108,HG00116,HG00118,HG00119,HG00122,HG00124,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00140,HG00142,HG00143,HG00146,HG00148,HG00150,HG00151,HG00152,HG00155,HG00156,HG00157,HG00158,HG00171,HG00173,HG00174,HG00176,HG00177,HG00179,HG00181,HG00182,HG00185,HG00188,HG00189,HG00231,HG00236,HG00239,HG00242,HG00243,HG00249,HG00251,HG00252,HG00253,HG00254,HG00258,HG00261,HG00262,HG00263,HG00265,HG00266,HG00268,HG00272,HG00273,HG00274,HG00275,HG00277,HG00278,HG00281,HG00285,HG00310,HG00313,HG00315,HG00319,HG00321,HG00323,HG00324,HG00327,HG00329,HG00330,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00353,HG00357,HG00366,HG00368,HG00375,HG00377,HG01334 nsv7174 1 25591787 25718224 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9251,nssv9262 M 9 0 0 RHCE,RHD,TMEM50A NA18517 nsv4033408 1 25592000 25610100 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780863,nssv15780860,nssv15780861,nssv15780862,nssv15780859 M 10847 0 0 RHD nsv5574310 1 25592538 25662865 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064633 M 35 0 1 RHD HG00732 esv3585521 1 25592642 25661222 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893072,essv9892506,essv9893086,essv9892512,essv9892974,essv9892534,essv9892966,essv9892527,essv9892949,essv9892558,essv9893028,essv9892495,essv9893000,essv9892515,essv9893053,essv9892546,essv9893006,essv9892549,essv9893001,essv9892481,essv9893048,essv9892530,essv9893017,essv9892532,essv9892950,essv9892559,essv9892965,essv9892490,essv9892945,essv9892531,essv9892939,essv9892552,essv9892981,essv9892554,essv9893040,essv9892524,essv9892932,essv9892518,essv9893020,essv9892536,essv9892976,essv9892561,essv9893015,essv9892562,essv9893074,essv9892497,essv9892987,essv9892482,essv9892970,essv9892499,essv9893079,essv9892528,essv9892948,essv9892544,essv9892937,essv9892525,essv9893021,essv9892508,essv9893043,essv9892529,essv9892942,essv9892526,essv9892993,essv9892553,essv9893029,essv9892503,essv9892999,essv9892489,essv9893002,essv9892541,essv9892935,essv9892519,essv9893052,essv9892543,essv9893087,essv9892533,essv9893078,essv9892517,essv9893064,essv9892522,essv9893067,essv9892523,essv9893047,essv9892551,essv9892930,essv9892492,essv9893034,essv9892537,essv9893032,essv9892500,essv9893063,essv9892494,essv9893026,essv9892485,essv9893071,essv9892513,essv9892934,essv9892487,essv9893019,essv9892556,essv9893073,essv9892510,essv9892992,essv9892516,essv9893097,essv9892509,essv9892982,essv9892488,essv9893080,essv9892521,essv9893022,essv9892548,essv9893039,essv9892483,essv9892961,essv9892560,essv9893003,essv9892505,essv9893004,essv9892520,essv9893007,essv9892540,essv9892989,essv9892545,essv9893099,essv9892486,essv9892933,essv9892511,essv9892962,essv9892491,essv9892958,essv9892550,essv9892975,essv9892484,essv9892997,essv9892535,essv9893068,essv9892496,essv9892956,essv9892547,essv9893094,essv9892501,essv9893085,essv9892555,essv9893095,essv9892514,essv9892943,essv9892493,essv9893025,essv9892539,essv9893023,essv9892504,essv9892947,essv9892538,essv9893066,essv9892542,essv9893096,essv9892498,essv9893075,essv9892502,essv9892964,essv9892557,essv9893014,essv9892507,essv9892967,essv9892340,essv9892309,essv9892957,essv9892410,essv9892236,essv9892968,essv9892382,essv9892237,essv9893049,essv9892426,essv9892238,essv9893055,essv9892367,essv9892323,essv9892985,essv9892466,essv9892301,essv9893092,essv9892473,essv9892239,essv9893024,essv9892388,essv9892303,essv9892991,essv9892415,essv9892240,essv9893057,essv9892384,essv9892241,essv9893009,essv9892393,essv9892307,essv9893093,essv9892418,essv9892242,essv9893044,essv9892407,essv9892243,essv9892980,essv9892349,essv9892244,essv9892971,essv9892361,essv9892245,essv9892960,essv9892390,essv9892246,essv9893058,essv9892442,essv9892247,essv9892977,essv9892436,essv9892248,essv9892951,essv9892474,essv9892321,essv9893005,essv9892353,essv9892249,essv9893037,essv9892405,essv9892324,essv9892969,essv9892381,essv9892300,essv9893042,essv9892358,essv9892304,essv9892936,essv9892338,essv9892250,essv9893018,essv9892365,essv9892251,essv9892984,essv9892362,essv9892252,essv9893090,essv9892448,essv9892253,essv9893070,essv9892457,essv9892305,essv9892946,essv9892452,essv9892254,essv9893081,essv9892379,essv9892255,essv9892929,essv9892347,essv9892310,essv9893088,essv9892430,essv9892314,essv9892994,essv9892434,essv9892256,essv9892988,essv9892421,essv9892257,essv9892954,essv9892443,essv9892258,essv9892938,essv9892375,essv9892317,essv9893060,essv9892413,essv9892259,essv9893013,essv9892372,essv9892260,essv9893027,essv9892404,essv9892218,essv9892996,essv9892391,essv9892261,essv9893076,essv9892437,essv9892322,essv9892979,essv9892409,essv9892219,essv9893091,essv9892397,essv9892262,essv9892986,essv9892475,essv9892220,essv9892931,essv9892396,essv9892263,essv9893041,essv9892414,essv9892306,essv9892953,essv9892445,essv9892264,essv9893065,essv9892336,essv9892265,essv9892952,essv9892357,essv9892266,essv9892972,essv9892427,essv9892267,essv9892959,essv9892356,essv9892326,essv9893054,essv9892446,essv9892268,essv9892940,essv9892462,essv9892269,essv9893051,essv9892472,essv9892221,essv9892983,essv9892470,essv9892270,essv9893062,essv9892341,essv9892271,essv9893008,essv9892398,essv9892315,essv9893038,essv9892463,essv9892222,essv9893089,essv9892350,essv9892272,essv9893059,essv9892373,essv9892273,essv9893036,essv9892369,essv9892319,essv9893069,essv9892458,essv9892274,essv9892955,essv9892395,essv9892275,essv9893077,essv9892431,essv9892223,essv9893082,essv9892428,essv9892276,essv9893035,essv9892416,essv9892224,essv9893010,essv9892444,essv9892277,essv9893084,essv9892359,essv9892327,essv9893012,essv9892432,essv9892278,essv9892995,essv9892422,essv9892308,essv9893011,essv9892386,essv9892225,essv9892941,essv9892360,essv9892318,essv9893033,essv9892378,essv9892279,essv9892963,essv9892370,essv9892280,essv9892978,essv9892439,essv9892328,essv9892973,essv9892461,essv9892281,essv9893046,essv9892459,essv9892226,essv9893083,essv9892423,essv9892282,essv9893050,essv9892451,essv9892227,essv9893061,essv9892478,essv9892325,essv9893045,essv9892450,essv9892330,essv9892944,essv9892447,essv9892283,essv9892990,essv9892408,essv9892284,essv9893031,essv9892403,essv9892285,essv9893030,essv9892376,essv9892311,essv9893056,essv9892377,essv9892286,essv9893016,essv9892401,essv9892228,essv9892998,essv9892424,essv9892302,essv9893098,essv9892476,essv9892287,essv9892420,essv9892329,essv9892342,essv9892288,essv9892467,essv9892289,essv9892394,essv9892313,essv9892366,essv9892290,essv9892355,essv9892229,essv9892429,essv9892291,essv9892352,essv9892230,essv9892339,essv9892292,essv9892392,essv9892293,essv9892343,essv9892294,essv9892440,essv9892231,essv9892400,essv9892316,essv9892465,essv9892320,essv9892368,essv9892295,essv9892383,essv9892296,essv9892402,essv9892232,essv9892453,essv9892297,essv9892438,essv9892233,essv9892354,essv9892298,essv9892449,essv9892234,essv9892385,essv9892331,essv9892411,essv9892312,essv9892371,essv9892299,essv9892333,essv9892235,essv9892433,essv9892845,essv9892460,essv9892734,essv9892456,essv9892708,essv9892351,essv9892784,essv9892399,essv9892768,essv9892345,essv9892764,essv9892332,essv9892726,essv9892441,essv9892809,essv9892417,essv9892812,essv9892454,essv9892722,essv9892435,essv9892711,essv9892387,essv9892802,essv9892406,essv9892742,essv9892346,essv9892699,essv9892468,essv9892743,essv9892425,essv9892849,essv9892348,essv9892691,essv9892469,essv9892821,essv9892374,essv9892774,essv9892419,essv9892792,essv9892364,essv9892738,essv9892363,essv9892700,essv9892334,essv9892791,essv9892477,essv9892759,essv9892471,essv9892789,essv9892479,essv9892779,essv9892380,essv9892778,essv9892480,essv9892753,essv9892455,essv9892844,essv9892412,essv9892817,essv9892464,essv9892810,essv9892335,essv9892747,essv9892337,essv9892692,essv9892344,essv9892755,essv9892389,essv9892836,essv9892915,essv9892798,essv9892878,essv9892766,essv9892897,essv9892684,essv9892927,essv9892706,essv9892852,essv9892720,essv9892880,essv9892740,essv9892860,essv9892796,essv9892917,essv9892744,essv9892910,essv9892763,essv9892911,essv9892808,essv9892923,essv9892737,essv9892926,essv9892756,essv9892879,essv9892694,essv9892906,essv9892698,essv9892859,essv9892819,essv9892853,essv9892832,essv9892919,essv9892754,essv9892874,essv9892688,essv9892868,essv9892793,essv9892912,essv9892696,essv9892870,essv9892843,essv9892862,essv9892712,essv9892900,essv9892767,essv9892877,essv9892687,essv9892883,essv9892749,essv9892899,essv9892695,essv9892876,essv9892801,essv9892871,essv9892818,essv9892903,essv9892730,essv9892894,essv9892777,essv9892922,essv9892760,essv9892891,essv9892813,essv9892867,essv9892811,essv9892866,essv9892741,essv9892861,essv9892785,essv9892898,essv9892693,essv9892873,essv9892782,essv9892865,essv9892713,essv9892888,essv9892805,essv9892863,essv9892827,essv9892885,essv9892728,essv9892851,essv9892834,essv9892928,essv9892719,essv9892850,essv9892822,essv9892907,essv9892745,essv9892887,essv9892736,essv9892858,essv9892757,essv9892908,essv9892686,essv9892855,essv9892718,essv9892918,essv9892773,essv9892916,essv9892772,essv9892889,essv9892762,essv9892890,essv9892690,essv9892925,essv9892710,essv9892869,essv9892701,essv9892895,essv9892831,essv9892882,essv9892697,essv9892914,essv9892729,essv9892905,essv9892828,essv9892920,essv9892846,essv9892902,essv9892702,essv9892872,essv9892830,essv9892864,essv9892824,essv9892884,essv9892715,essv9892913,essv9892724,essv9892854,essv9892732,essv9892857,essv9892780,essv9892893,essv9892776,essv9892892,essv9892733,essv9892924,essv9892837,essv9892901,essv9892704,essv9892875,essv9892847,essv9892856,essv9892835,essv9892909,essv9892795,essv9892904,essv9892800,essv9892921,essv9892770,essv9892886,essv9892786,essv9892881,essv9892746,essv9892896,essv9892703,essv9892598,essv9892790,essv9892660,essv9892803,essv9892588,essv9892815,essv9892577,essv9892735,essv9892626,essv9892750,essv9892673,essv9892797,essv9892576,essv9892833,essv9892595,essv9892841,essv9892646,essv9892799,essv9892644,essv9892826,essv9892665,essv9892751,essv9892563,essv9892781,essv9892627,essv9892842,essv9892567,essv9892848,essv9892596,essv9892716,essv9892659,essv9892689,essv9892674,essv9892685,essv9892620,essv9892761,essv9892676,essv9892823,essv9892668,essv9892804,essv9892679,essv9892825,essv9892650,essv9892725,essv9892677,essv9892814,essv9892630,essv9892707,essv9892587,essv9892705,essv9892613,essv9892769,essv9892648,essv9892840,essv9892680,essv9892807,essv9892642,essv9892794,essv9892654,essv9892820,essv9892615,essv9892765,essv9892633,essv9892839,essv9892601,essv9892838,essv9892662,essv9892771,essv9892623,essv9892717,essv9892682,essv9892758,essv9892610,essv9892714,essv9892649,essv9892727,essv9892599,essv9892752,essv9892651,essv9892775,essv9892582,essv9892731,essv9892656,essv9892783,essv9892622,essv9892787,essv9892608,essv9892806,essv9892568,essv9892721,essv9892574,essv9892723,essv9892580,essv9892816,essv9892667,essv9892739,essv9892683,essv9892829,essv9892658,essv9892748,essv9892591,essv9892788,essv9892664,essv9892709,essv9892565,essv9892618,essv9892586,essv9892640,essv9892606,essv9892612,essv9892635,essv9892607,essv9892593,essv9892579,essv9892678,essv9892634,essv9892603,essv9892621,essv9892590,essv9892669,essv9892625,essv9892569,essv9892655,essv9892570,essv9892647,essv9892581,essv9892631,essv9892604,essv9892645,essv9892572,essv9892663,essv9892670,essv9892632,essv9892653,essv9892583,essv9892609,essv9892628,essv9892639,essv9892616,essv9892600,essv9892638,essv9892589,essv9892675,essv9892571,essv9892605,essv9892564,essv9892566,essv9892666,essv9892575,essv9892624,essv9892672,essv9892636,essv9892629,essv9892661,essv9892611,essv9892594,essv9892617,essv9892578,essv9892592,essv9892671,essv9892637,essv9892652,essv9892585,essv9892614,essv9892641,essv9892584,essv9892602,essv9892657,essv9892619,essv9892643,essv9892573,essv9892597,essv9892681 M 2504 0 882 RHD HG00096,HG00099,HG00100,HG00108,HG00109,HG00113,HG00115,HG00116,HG00118,HG00119,HG00122,HG00126,HG00127,HG00129,HG00130,HG00131,HG00132,HG00133,HG00136,HG00137,HG00138,HG00140,HG00142,HG00143,HG00145,HG00146,HG00148,HG00149,HG00150,HG00151,HG00155,HG00157,HG00171,HG00173,HG00174,HG00176,HG00177,HG00179,HG00181,HG00182,HG00185,HG00188,HG00189,HG00231,HG00234,HG00236,HG00239,HG00240,HG00242,HG00243,HG00251,HG00252,HG00253,HG00254,HG00258,HG00261,HG00262,HG00263,HG00265,HG00266,HG00268,HG00272,HG00273,HG00274,HG00275,HG00277,HG00278,HG00281,HG00285,HG00288,HG00290,HG00304,HG00308,HG00310,HG00311,HG00313,HG00315,HG00319,HG00321,HG00323,HG00324,HG00327,HG00329,HG00330,HG00332,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00341,HG00342,HG00343,HG00344,HG00349,HG00350,HG00351,HG00353,HG00357,HG00362,HG00364,HG00365,HG00366,HG00368,HG00371,HG00375,HG00378,HG00379,HG00380,HG00381,HG00382,HG00384,HG00406,HG00611,HG00626,HG00650,HG00701,HG00732,HG00736,HG00737,HG00740,HG00742,HG00851,HG00956,HG01047,HG01048,HG01051,HG01052,HG01054,HG01055,HG01063,HG01064,HG01067,HG01069,HG01072,HG01073,HG01075,HG01079,HG01080,HG01083,HG01085,HG01092,HG01097,HG01098,HG01101,HG01102,HG01107,HG01111,HG01112,HG01113,HG01119,HG01121,HG01122,HG01125,HG01133,HG01134,HG01136,HG01140,HG01142,HG01161,HG01162,HG01164,HG01168,HG01170,HG01173,HG01174,HG01176,HG01177,HG01182,HG01183,HG01187,HG01188,HG01197,HG01200,HG01241,HG01248,HG01250,HG01254,HG01257,HG01259,HG01277,HG01281,HG01302,HG01303,HG01305,HG01312,HG01323,HG01334,HG01344,HG01345,HG01350,HG01353,HG01354,HG01359,HG01362,HG01363,HG01372,HG01375,HG01377,HG01383,HG01384,HG01389,HG01392,HG01398,HG01403,HG01413,HG01414,HG01431,HG01435,HG01438,HG01447,HG01456,HG01459,HG01461,HG01468,HG01474,HG01479,HG01485,HG01486,HG01489,HG01494,HG01497,HG01501,HG01503,HG01504,HG01506,HG01509,HG01512,HG01513,HG01516,HG01518,HG01519,HG01521,HG01522,HG01525,HG01528,HG01531,HG01537,HG01556,HG01577,HG01578,HG01589,HG01593,HG01596,HG01602,HG01603,HG01606,HG01610,HG01612,HG01617,HG01618,HG01619,HG01620,HG01623,HG01624,HG01625,HG01626,HG01628,HG01630,HG01631,HG01632,HG01670,HG01672,HG01673,HG01675,HG01676,HG01678,HG01679,HG01680,HG01684,HG01686,HG01699,HG01702,HG01708,HG01709,HG01757,HG01761,HG01762,HG01765,HG01766,HG01770,HG01771,HG01773,HG01775,HG01776,HG01781,HG01783,HG01784,HG01785,HG01786,HG01789,HG01790,HG01791,HG01843,HG01858,HG01873,HG01879,HG01882,HG01894,HG01921,HG01967,HG01976,HG01980,HG01982,HG01988,HG01989,HG01990,HG02012,HG02014,HG02035,HG02050,HG02052,HG02060,HG02072,HG02102,HG02108,HG02143,HG02144,HG02186,HG02190,HG02215,HG02223,HG02230,HG02231,HG02236,HG02238,HG02239,HG02255,HG02262,HG02281,HG02284,HG02307,HG02317,HG02325,HG02330,HG02332,HG02337,HG02390,HG02429,HG02449,HG02450,HG02455,HG02462,HG02479,HG02485,HG02490,HG02491,HG02494,HG02501,HG02505,HG02508,HG02536,HG02541,HG02545,HG02555,HG02557,HG02558,HG02562,HG02577,HG02582,HG02589,HG02594,HG02597,HG02601,HG02604,HG02613,HG02614,HG02629,HG02634,HG02635,HG02642,HG02646,HG02654,HG02657,HG02658,HG02666,HG02688,HG02691,HG02697,HG02699,HG02700,HG02702,HG02703,HG02727,HG02734,HG02737,HG02763,HG02769,HG02774,HG02783,HG02799,HG02807,HG02810,HG02813,HG02837,HG02839,HG02854,HG02870,HG02882,HG02891,HG02922,HG02943,HG02946,HG02952,HG02971,HG02976,HG02981,HG02982,HG03006,HG03007,HG03016,HG03021,HG03022,HG03028,HG03040,HG03069,HG03074,HG03082,HG03088,HG03095,HG03099,HG03100,HG03103,HG03114,HG03120,HG03126,HG03160,HG03168,HG03198,HG03199,HG03212,HG03228,HG03229,HG03234,HG03235,HG03238,HG03240,HG03247,HG03258,HG03265,HG03267,HG03271,HG03279,HG03280,HG03291,HG03295,HG03313,HG03342,HG03343,HG03351,HG03366,HG03367,HG03369,HG03372,HG03376,HG03385,HG03437,HG03449,HG03451,HG03460,HG03461,HG03470,HG03478,HG03479,HG03484,HG03488,HG03499,HG03511,HG03517,HG03518,HG03521,HG03539,HG03577,HG03585,HG03595,HG03603,HG03611,HG03616,HG03619,HG03629,HG03631,HG03634,HG03642,HG03660,HG03663,HG03673,HG03679,HG03680,HG03690,HG03692,HG03697,HG03698,HG03703,HG03709,HG03711,HG03717,HG03720,HG03727,HG03729,HG03731,HG03733,HG03746,HG03753,HG03755,HG03760,HG03765,HG03775,HG03777,HG03779,HG03780,HG03782,HG03787,HG03790,HG03792,HG03793,HG03803,HG03821,HG03837,HG03838,HG03848,HG03849,HG03862,HG03863,HG03868,HG03870,HG03872,HG03873,HG03882,HG03885,HG03886,HG03887,HG03890,HG03894,HG03895,HG03896,HG03897,HG03898,HG03899,HG03900,HG03908,HG03913,HG03914,HG03931,HG03937,HG03943,HG03951,HG03955,HG03960,HG03963,HG03968,HG03969,HG03976,HG03995,HG03998,HG04006,HG04015,HG04018,HG04019,HG04025,HG04033,HG04042,HG04054,HG04056,HG04060,HG04075,HG04100,HG04106,HG04146,HG04173,HG04177,HG04180,HG04185,HG04200,HG04202,HG04209,HG04210,HG04214,HG04225,HG04229,NA06984,NA06985,NA06989,NA06994,NA07037,NA07056,NA07357,NA10851,NA11829,NA11830,NA11831,NA11832,NA11840,NA11843,NA11893,NA11918,NA11919,NA11920,NA11930,NA11931,NA11932,NA11933,NA11992,NA12003,NA12004,NA12005,NA12006,NA12043,NA12044,NA12045,NA12046,NA12058,NA12144,NA12154,NA12156,NA12234,NA12272,NA12273,NA12282,NA12283,NA12340,NA12341,NA12342,NA12347,NA12348,NA12383,NA12400,NA12413,NA12414,NA12489,NA12546,NA12716,NA12751,NA12761,NA12763,NA12775,NA12776,NA12815,NA12827,NA12828,NA12829,NA12830,NA12842,NA12843,NA12872,NA12873,NA12874,NA12878,NA12890,NA18488,NA18507,NA18516,NA18519,NA18520,NA18526,NA18530,NA18546,NA18552,NA18571,NA18599,NA18609,NA18613,NA18614,NA18615,NA18620,NA18631,NA18636,NA18640,NA18861,NA18867,NA18871,NA18877,NA18879,NA18940,NA18941,NA18946,NA18960,NA18964,NA18989,NA18994,NA19001,NA19006,NA19025,NA19026,NA19054,NA19066,NA19075,NA19078,NA19079,NA19092,NA19095,NA19102,NA19107,NA19117,NA19118,NA19131,NA19141,NA19143,NA19146,NA19171,NA19172,NA19175,NA19200,NA19206,NA19209,NA19222,NA19236,NA19309,NA19317,NA19327,NA19350,NA19375,NA19379,NA19380,NA19395,NA19435,NA19474,NA19649,NA19652,NA19654,NA19658,NA19661,NA19678,NA19684,NA19700,NA19703,NA19716,NA19734,NA19741,NA19746,NA19749,NA19764,NA19773,NA19776,NA19782,NA19792,NA19794,NA19819,NA19900,NA19901,NA19922,NA19923,NA19984,NA20274,NA20276,NA20278,NA20287,NA20289,NA20296,NA20314,NA20317,NA20318,NA20332,NA20334,NA20342,NA20351,NA20356,NA20412,NA20503,NA20504,NA20505,NA20506,NA20507,NA20509,NA20511,NA20512,NA20513,NA20514,NA20516,NA20518,NA20519,NA20522,NA20524,NA20528,NA20529,NA20530,NA20532,NA20533,NA20534,NA20538,NA20539,NA20540,NA20541,NA20543,NA20586,NA20589,NA20752,NA20754,NA20755,NA20756,NA20759,NA20760,NA20761,NA20762,NA20763,NA20764,NA20765,NA20766,NA20767,NA20768,NA20770,NA20771,NA20773,NA20775,NA20778,NA20783,NA20785,NA20786,NA20787,NA20792,NA20796,NA20797,NA20801,NA20807,NA20808,NA20809,NA20811,NA20813,NA20814,NA20819,NA20821,NA20822,NA20826,NA20832,NA20846,NA20847,NA20849,NA20851,NA20852,NA20854,NA20858,NA20859,NA20861,NA20863,NA20864,NA20867,NA20870,NA20875,NA20882,NA20884,NA20885,NA20888,NA20891,NA20892,NA20894,NA20895,NA20896,NA20897,NA20899,NA20900,NA20902,NA20904,NA20905,NA20908,NA20911,NA21087,NA21089,NA21090,NA21091,NA21092,NA21100,NA21101,NA21102,NA21103,NA21104,NA21105,NA21107,NA21110,NA21113,NA21115,NA21117,NA21118,NA21123,NA21126,NA21128,NA21129,NA21130,NA21133,NA21137,NA21141,NA21143,NA21144 esv3585522 1 25592642 25661222 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893100,essv9893104,essv9893102,essv9893106,essv9893103,essv9893108,essv9893105,essv9893109,essv9893101,essv9893110,essv9893107 M 2504 11 0 RHD HG00102,HG01462,HG02078,HG02944,HG02979,HG03025,HG03756,NA12776,NA18646,NA19026,NA19204 nsv513984 1 25592663 25663607 CNV gain Campbell_et_al_2011 21397061 Oligo aCGH nssv2857011,nssv2856996,nssv2857053,nssv2856997,nssv2857075,nssv2856998,nssv2857010,nssv2855822,nssv2857031,nssv2856999,nssv2857017,nssv2858434,nssv2857038,nssv2858460,nssv2857056,nssv2856890,nssv2857014,nssv2858456,nssv2857006,nssv2858464,nssv2857036,nssv2856931,nssv2857001,nssv2858406,nssv2857032,nssv2856978,nssv2857062,nssv2855861,nssv2857094,nssv2858478,nssv2857092,nssv2855830,nssv2857066,nssv2856880,nssv2857043,nssv2855851,nssv2857050,nssv2855855,nssv2857045,nssv2856940,nssv2857019,nssv2856986,nssv2857081,nssv2858416,nssv2857003,nssv2856987,nssv2857072,nssv2856961,nssv2857096,nssv2858448,nssv2857078,nssv2858383,nssv2857091,nssv2857000,nssv2857033,nssv2858427,nssv2857022,nssv2856966,nssv2857089,nssv2858367,nssv2857013,nssv2858445,nssv2857080,nssv2855800,nssv2857051,nssv2856906,nssv2857023,nssv2858366,nssv2857052,nssv2856885,nssv2857076,nssv2856912,nssv2857044,nssv2856922,nssv2857064,nssv2858389,nssv2857009,nssv2856884,nssv2857004,nssv2855810,nssv2857041,nssv2855834,nssv2857027,nssv2858364,nssv2857025,nssv2858405,nssv2857097,nssv2855857,nssv2857007,nssv2855870,nssv2857002,nssv2856889,nssv2857034,nssv2858430,nssv2857073,nssv2855844,nssv2857065,nssv2856882,nssv2857054,nssv2858417,nssv2857068,nssv2858391,nssv2857049,nssv2855824,nssv2857016,nssv2856925,nssv2857026,nssv2858429,nssv2857071,nssv2855837,nssv2857048,nssv2858385,nssv2857057,nssv2856968,nssv2857058,nssv2855818,nssv2857040,nssv2855836,nssv2857069,nssv2855835,nssv2857030,nssv2858365,nssv2857060,nssv2858396,nssv2857024,nssv2855779,nssv2857015,nssv2858413,nssv2857021,nssv2855784,nssv2857005,nssv2856950,nssv2857020,nssv2856909,nssv2857079,nssv2855873,nssv2857047,nssv2856974,nssv2857090,nssv2856965,nssv2857067,nssv2858414,nssv2857029,nssv2856932,nssv2857082,nssv2856910,nssv2857018,nssv2858465,nssv2857077,nssv2856944,nssv2857095,nssv2856958,nssv2857084,nssv2858408,nssv2857063,nssv2855859,nssv2857085,nssv2858412,nssv2857074,nssv2855854,nssv2857098,nssv2855848,nssv2857042,nssv2856904,nssv2857028,nssv2856972,nssv2857086,nssv2855777,nssv2857099,nssv2856893,nssv2857070,nssv2858455,nssv2857093,nssv2855868,nssv2857039,nssv2858425,nssv2857046,nssv2858424,nssv2857012,nssv2856943,nssv2857088,nssv2855860,nssv2857008,nssv2856900,nssv2857059,nssv2858444,nssv2857087,nssv2858409,nssv2857037,nssv2856983,nssv2857061,nssv2856921,nssv2857083,nssv2856954,nssv2857035,nssv2855803,nssv2857055,nssv2858469,nssv2858451,nssv2858472,nssv2855788,nssv2858428,nssv2858422,nssv2856914,nssv2858419,nssv2855839,nssv2856955,nssv2855812,nssv2856924,nssv2855816,nssv2855846,nssv2858397,nssv2856896,nssv2858374,nssv2856979,nssv2855793,nssv2856951,nssv2855823,nssv2858492,nssv2855795,nssv2856908,nssv2856911,nssv2855799,nssv2856992,nssv2858376,nssv2858481,nssv2855792,nssv2856945,nssv2856975,nssv2858453,nssv2858439,nssv2858386,nssv2856963,nssv2858475,nssv2856967,nssv2856959,nssv2856881,nssv2858384,nssv2858380,nssv2855863,nssv2856988,nssv2858493,nssv2858423,nssv2856937,nssv2858458,nssv2856923,nssv2855775,nssv2858403,nssv2855801,nssv2858379,nssv2855821,nssv2858438,nssv2856977,nssv2856915,nssv2855842,nssv2855869,nssv2856902,nssv2855796,nssv2858395,nssv2858411,nssv2858378,nssv2858407,nssv2858477,nssv2858400,nssv2856990,nssv2855853,nssv2856897,nssv2858392,nssv2858473,nssv2858479,nssv2856913,nssv2856971,nssv2858494,nssv2858466,nssv2856938,nssv2858462,nssv2856962,nssv2858382,nssv2856903,nssv2858461,nssv2856969,nssv2858467,nssv2855776,nssv2858491,nssv2855840,nssv2856953,nssv2856907,nssv2858487,nssv2855867,nssv2856952,nssv2855780,nssv2856960,nssv2855849,nssv2855858,nssv2858431,nssv2856984,nssv2858483,nssv2855828,nssv2858394,nssv2856942,nssv2856920,nssv2856995,nssv2855865,nssv2858454,nssv2856985,nssv2858432,nssv2858474,nssv2856888,nssv2858468,nssv2856941,nssv2858377,nssv2856926,nssv2858485,nssv2858489,nssv2855804,nssv2858443,nssv2855814,nssv2856936,nssv2856934,nssv2855872,nssv2858452,nssv2858415,nssv2855829,nssv2855790,nssv2855832,nssv2856899,nssv2856927,nssv2856886,nssv2856905,nssv2855797,nssv2855845,nssv2858404,nssv2858421,nssv2855838,nssv2855805,nssv2855862,nssv2856948,nssv2855808,nssv2856994,nssv2855787,nssv2856982,nssv2858433,nssv2855786,nssv2858441,nssv2855815,nssv2858393,nssv2855813,nssv2855820,nssv2855798,nssv2858482,nssv2858388,nssv2855811,nssv2855826,nssv2856892,nssv2856916,nssv2858490,nssv2856976,nssv2858449,nssv2858369,nssv2858387,nssv2858402,nssv2855783,nssv2855831,nssv2856981,nssv2855794,nssv2858370,nssv2855781,nssv2855843,nssv2858399,nssv2855791,nssv2855806,nssv2858470,nssv2856898,nssv2855809,nssv2855852,nssv2855789,nssv2855866,nssv2856939,nssv2855807,nssv2856883,nssv2856935,nssv2858488,nssv2858486,nssv2856989,nssv2858436,nssv2858480,nssv2856901,nssv2856980,nssv2858435,nssv2856964,nssv2858375,nssv2856970,nssv2858447,nssv2856917,nssv2856929,nssv2856973,nssv2858442,nssv2855874,nssv2856894,nssv2855827,nssv2858484,nssv2858390,nssv2858450,nssv2858457,nssv2858373,nssv2858372,nssv2855774,nssv2856918,nssv2856956,nssv2856887,nssv2858418,nssv2858426,nssv2858446,nssv2856933,nssv2858368,nssv2856949,nssv2858401,nssv2858459,nssv2856919,nssv2855856,nssv2856895,nssv2856993,nssv2855825,nssv2855833,nssv2856928,nssv2855871,nssv2856930,nssv2855841,nssv2858476,nssv2856957,nssv2858437,nssv2858381,nssv2858398,nssv2855773,nssv2858410,nssv2858463,nssv2855819,nssv2855817,nssv2855785,nssv2856947,nssv2855802,nssv2856991,nssv2855778,nssv2855782,nssv2856946,nssv2858420,nssv2855850,nssv2856891,nssv2858371,nssv2858440,nssv2855847,nssv2855864,nssv2858471 M 2366 453 0 RHD NA06985,NA06986,NA06991,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10831,NA10835,NA10836,NA10838,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10851,NA10856,NA10857,NA10859,NA10860,NA10863,NA10864,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11894,NA11917,NA11918,NA11920,NA11930,NA11992,NA11994,NA11995,NA12043,NA12044,NA12045,NA12056,NA12058,NA12144,NA12145,NA12146,NA12154,NA12155,NA12234,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12340,NA12341,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12485,NA12489,NA12546,NA12708,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12842,NA12864,NA12872,NA12874,NA12875,NA12877,NA12878,NA12889,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18487,NA18488,NA18489,NA18497,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18868,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18911,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19108,NA19109,NA19113,NA19114,NA19115,NA19116,NA19117,NA19118,NA19119,NA19120,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19173,NA19174,NA19175,NA19177,NA19178,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19185,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19224,NA19225,NA19235,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21310,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21453,NA21454,NA21455,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21493,NA21494,NA21512,NA21513,NA21514,NA21522,NA21523,NA21524,NA21525,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21718 nsv4040719 1 25592800 25651000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851644 M 10847 0 1 RHD dgv202n54 1 25593083 25619589 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545832,nsv545829 M 17421 0 6 RHD nsv5829655 1 25593084 25601546 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450371,nssv17453371 M 914 0 0 RHD esv3584591 1 25593128 25646946 CNV loss Mokhtar_et_al_2014 24956385 SNP array essv9838688 M 34 0 1 RHD KSF024 nsv442830 1 25593128 25662005 CNV loss McCarroll_et_al_2008 18776908 SNP array nssv1617723,nssv1617745,nssv1617648,nssv1617704,nssv1617698,nssv1617656,nssv1617690,nssv1617711,nssv1617649,nssv1617688,nssv1617722,nssv1617699,nssv1617642,nssv1617712,nssv1617714,nssv1617707,nssv1617695,nssv1617732,nssv1617677,nssv1617730,nssv1617640,nssv1617655,nssv1617715,nssv1617659,nssv1617744,nssv1617654,nssv1617661,nssv1617686,nssv1617716,nssv1617676,nssv1617639,nssv1617697,nssv1617671,nssv1617687,nssv1617663,nssv1617718,nssv1617737,nssv1617689,nssv1617679,nssv1617693,nssv1617742,nssv1617720,nssv1617708,nssv1617634,nssv1617652,nssv1617637,nssv1617638,nssv1617682,nssv1617650,nssv1617670,nssv1617733,nssv1617641,nssv1617739,nssv1617726,nssv1617717,nssv1617709,nssv1617701,nssv1617666,nssv1617665,nssv1617646,nssv1617662,nssv1617692,nssv1617678,nssv1617635,nssv1617700,nssv1617673,nssv1617664,nssv1617696,nssv1617645,nssv1617644,nssv1617703,nssv1617706,nssv1617740,nssv1617727,nssv1617684,nssv1617675,nssv1617667,nssv1617681,nssv1617657,nssv1617694,nssv1617719,nssv1617738,nssv1617672,nssv1617668,nssv1617674,nssv1617633,nssv1617710,nssv1617734,nssv1617683,nssv1617743,nssv1617643,nssv1617729,nssv1617731,nssv1617735,nssv1617728,nssv1617660,nssv1617705,nssv1617685,nssv1617653,nssv1617741,nssv1617721,nssv1617651 M 270 0 102 RHD NA06985,NA06991,NA06993,NA06994,NA07022,NA07029,NA07034,NA07055,NA07056,NA07357,NA10830,NA10831,NA10835,NA10838,NA10839,NA10851,NA10854,NA10855,NA10856,NA10859,NA10860,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11882,NA11992,NA11993,NA12003,NA12004,NA12005,NA12006,NA12043,NA12044,NA12056,NA12057,NA12144,NA12145,NA12154,NA12156,NA12234,NA12236,NA12248,NA12707,NA12716,NA12740,NA12751,NA12752,NA12753,NA12761,NA12763,NA12802,NA12815,NA12864,NA12872,NA12873,NA12874,NA12878,NA12891,NA18507,NA18515,NA18516,NA18526,NA18552,NA18571,NA18609,NA18620,NA18636,NA18855,NA18861,NA18863,NA18871,NA18872,NA18940,NA18960,NA18964,NA18994,NA19092,NA19094,NA19102,NA19131,NA19132,NA19140,NA19141,NA19143,NA19154,NA19171,NA19172,NA19173,NA19192,NA19193,NA19194,NA19200,NA19202,NA19203,NA19206,NA19209,NA19211,NA19221,NA19222 esv2764200 1 25593128 25663344 CNV gain+loss Vogler_et_al_2010 21179565 Merging,SNP array essv7005236,essv7005270,essv7005271,essv7005244,essv7005265,essv7005240,essv7005275,essv7005232,essv7005246,essv7005254,essv7005248,essv7005263,essv7005238,essv7005266,essv7005257,essv7005247,essv7005250,essv7005239,essv7005264,essv7005233,essv7005269,essv7005272,essv7005231,essv7005261,essv7005235,essv7005241,essv7005258,essv7005237,essv7005274,essv7005255,essv7005260,essv7005253,essv7005262,essv7005273,essv7005268,essv7005252,essv7005249,essv7005230,essv7005242,essv7005251,essv7005259,essv7005243 M 1109 6 36 RHD RW_0017,RW_0018,RW_0023,RW_0025,RW_0042,RW_0049,RW_0053,RW_0064,RW_0068,RW_0072,RW_0079,RW_0088,RW_0106,RW_0123,RW_0129,RW_0132,RW_0152,RW_0158,RW_0168,RW_0171,RW_0173,RW_0190,RW_0209,RW_0216,RW_0220,RW_0227,RW_0241,RW_0253,RW_0254,RW_0310,RW_0325,RW_0502,RW_0513,RW_0550,RW_0554,RW_0564,RW_0568,RW_0571,RW_0587,RW_0615,RW_0624,RW_0664 nsv6328366 1 25593202 25601196 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060292 M 19652 0 1 RHD nsv4045194 1 25593700 25610200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851645 M 10847 0 1 RHD nsv7409 1 25595332 25628187 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4006 M 9 1 0 RHD NA12878 nsv5829918 1 25595389 25606541 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468925,nssv17455325 M 914 0 0 RHD dgv139n100 1 25595935 25646934 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1012128,nsv1013309 M 11257 0 22 RHD dgv140n100 1 25595935 25688276 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1007059,nsv1001739,nsv1005890,nsv998813,nsv999016,nsv1007888,nsv1014567,nsv999620,nsv1000590,nsv1011005,nsv1000220,nsv1000794 M 11257 31 0 RHD,TMEM50A nsv822154 1 25595981 25665432 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1431065,nssv1429556 M 31 2 0 RHD,TMEM50A AK14,AK18 dgv141n100 1 25596393 25678377 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1002585,nsv997527,nsv1009868,nsv998503,nsv1014847,nsv1011490,nsv1014951,nsv1005538 M 11257 0 40 RHD,TMEM50A nsv5432402 1 25596441 25598261 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900195 M 3202 1 0 "" esv2451224 1 25596651 25659162 CNV loss McKernan_et_al_2009 19546169 Sequencing essv5204513 M 1 0 1 RHD NA18507 dgv203n54 1 25598276 25646933 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545849,nsv545850,nsv545834,nsv545835,nsv545845,nsv545851,nsv545846,nsv545848,nsv545847 M 17421 0 34 RHD dgv204n54 1 25598276 25655538 CNV gain+loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545836,nsv545837 M 17421 2 23 RHD esv3693201 1 25598276 25659687 CNV gain+loss Palta_et_al_2015 25853576 SNP array essv16507193,essv16508082 M 199 1 1 RHD NA19172,NA19204 nsv545843 1 25598276 25694186 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711770,nssv711769 M 17421 0 2 RHCE,RHD,TMEM50A nsv482212 1 25598981 25656936 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558573 M 1 1 0 RHD KB1 nsv6324071 1 25599713 25641071 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060293 M 19652 0 1 RHD dgv142n100 1 25600293 25663298 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1008571,nsv1005511,nsv1004546 M 11257 19 0 RHD nsv545844 1 25602924 25627332 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711771 M 17421 0 1 RHD nsv4034921 1 25603000 25651500 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780864,nssv15780867,nssv15780868,nssv15780866,nssv15780865 M 10847 0 0 RHD nsv5829656 1 25603208 25609954 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467581,nssv17457419 M 914 0 0 RHD dgv205n54 1 25606207 25664666 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545852,nsv545857,nsv545856,nsv545858,nsv545855 M 17421 0 7 RHD esv29949 1 25609449 25663551 CNV gain Wheeler_et_al_2008 18421352 Oligo aCGH,Sequencing essv84188 M 3 1 0 RHD WATSON nsv5431070 1 25609491 25615654 OTHER complex Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900196 M 3202 0 0 RHD nsv5564780 1 25609554 25609660 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064634 M 35 0 1 RHD HG00731 nsv5983475 1 25609554 25609662 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529938 M 405 0 1 RHD nsv3048688 1 25609555 25609662 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14024333 M 2 0 1 RHD NA12878 nsv3323722 1 25609556 25609662 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480882 M 14 0 1 RHD HG00733 nsv6324773 1 25609692 25614291 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202829 M 19652 1 0 RHD esv3375696 1 25610065 25614263 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692246 M 185 1 0 RHD NA12892 dgv64n106 1 25610100 25614300 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nsv1118431,nsv1115341 M 2 2 0 RHD KWS1,KWS2 dgv131n223 1 25610158 25736274 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6542632,nsv6538519 M 19652 0 0 RHCE,RHD,TMEM50A nsv5829919 1 25610390 25614141 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457586,nssv17464881 M 914 0 0 RHD dgv206n54 1 25611093 25642596 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545854,nsv545853 M 17421 0 3 RHD nsv6318215 1 25612392 25614291 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202830 M 19652 1 0 RHD nsv4535168 1 25613493 25613494 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030944 M 10847 1 0 RHD nsv5870847 1 25613678 25732104 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17360228 M 914 1 0 RHCE,RHD,TMEM50A nsv1116486 1 25613745 25614291 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3962777,nssv3983493 M 2 0 0 RHD KWS1,KWS2 nsv6548425 1 25613745 25614291 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251552 M 19652 0 0 RHD nsv4044768 1 25614000 25621000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851646 M 10847 0 1 RHD dgv32e199 1 25614045 25661892 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2657070,esv2677938 M 1151 0 82 RHD HG00096,HG00100,HG00108,HG00116,HG00118,HG00119,HG00122,HG00124,HG00126,HG00127,HG00131,HG00133,HG00136,HG00137,HG00138,HG00140,HG00143,HG00146,HG00148,HG00150,HG00152,HG00155,HG00156,HG00157,HG00158,HG00171,HG00173,HG00174,HG00176,HG00177,HG00179,HG00181,HG00185,HG00188,HG00189,HG00231,HG00236,HG00239,HG00243,HG00249,HG00251,HG00252,HG00253,HG00254,HG00258,HG00261,HG00262,HG00263,HG00265,HG00266,HG00268,HG00272,HG00273,HG00274,HG00275,HG00277,HG00278,HG00281,HG00285,HG00310,HG00313,HG00315,HG00319,HG00321,HG00323,HG00324,HG00327,HG00329,HG00334,HG00335,HG00336,HG00337,HG00338,HG00339,HG00342,HG00343,HG00344,HG00353,HG00366,HG00368,HG00375,HG01334 nsv1077264 1 25614099 25661600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766144 M 1 0 1 RHD KWP1 nsv5829799 1 25614242 25620527 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463410,nssv17466367 M 914 0 0 RHD nsv5623841 1 25614266 25614266 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064635 M 35 1 0 RHD HG00731 nsv6060313 1 25614266 25614266 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534727 M 405 1 0 RHD nsv3060803 1 25614267 25614267 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019859 M 2 1 0 RHD CHM1 nsv3324115 1 25614277 25614277 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489974 M 14 1 0 RHD HG00733 nsv4046746 1 25614405 25614460 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851647 M 10847 0 1 RHD esv29997 1 25616136 25648458 CNV gain Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv84236 M 2 1 0 RHD HuRef nsv5829657 1 25619871 25636078 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451987,nssv17458123 M 914 0 0 RHD nsv945832 1 25619951 25621050 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765652,nssv1764658,nssv1764714,nssv1764663,nssv1764706,nssv1764718,nssv1764679,nssv1764639,nssv1765653,nssv1764665,nssv1764692,nssv1764675,nssv1764693,nssv1765649,nssv1764690,nssv1764651,nssv1765651,nssv1764717,nssv1765659,nssv1764662,nssv1765657,nssv1764652,nssv1764701,nssv1764661,nssv1764712,nssv1764659,nssv1764696,nssv1764674,nssv1764688,nssv1764668,nssv1764695,nssv1764669,nssv1764711,nssv1764676,nssv1764685,nssv1764721,nssv1765655,nssv1764655,nssv1764683,nssv1764646,nssv1764682,nssv1764670,nssv1764700,nssv1764722,nssv1764709,nssv1764664,nssv1764684,nssv1764716,nssv1764702,nssv1764667,nssv1765658,nssv1764672,nssv1764698,nssv1764654,nssv1764713,nssv1764647,nssv1764703,nssv1764723,nssv1764694,nssv1764657,nssv1764691,nssv1764644,nssv1764687,nssv1764643,nssv1764678,nssv1764656,nssv1764686,nssv1764645,nssv1764699,nssv1764720,nssv1764681,nssv1764671,nssv1764677,nssv1764719,nssv1764710,nssv1764650,nssv1764707,nssv1764653,nssv1764697,nssv1764660,nssv1764704,nssv1764666,nssv1765650,nssv1764673,nssv1765654,nssv1764648,nssv1764689,nssv1764640,nssv1764680,nssv1764641,nssv1764708,nssv1764642,nssv1764705,nssv1765648,nssv1764715,nssv1764649,nssv1765656 M 97 10 0 RHD HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv945833 1 25621050 25665337 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765663,nssv1765708,nssv1765738,nssv1765721,nssv1765670,nssv1765706,nssv1765669,nssv1765717,nssv1765662,nssv1765726,nssv1765661,nssv1765723,nssv1765680,nssv1765702,nssv1765675,nssv1765703,nssv1765733,nssv1765725,nssv1765687,nssv1765728,nssv1765734,nssv1765711,nssv1765683,nssv1765704,nssv1765730,nssv1765724,nssv1765736,nssv1765716,nssv1765739,nssv1765729,nssv1765681,nssv1765700,nssv1765673,nssv1765727,nssv1765677,nssv1765707,nssv1765676,nssv1765719,nssv1765731,nssv1765709,nssv1765690,nssv1765710,nssv1765684,nssv1765720,nssv1765679,nssv1765698,nssv1765693,nssv1765713,nssv1765667,nssv1765718,nssv1765688,nssv1765712,nssv1765672,nssv1765701,nssv1765666,nssv1765722,nssv1765694,nssv1765714,nssv1765732,nssv1765699,nssv1765735,nssv1765705,nssv1765737,nssv1765715,nssv1765674,nssv1765697,nssv1765668,nssv1765695,nssv1765678,nssv1765671,nssv1765660,nssv1765685,nssv1765696,nssv1765691,nssv1765686,nssv1765665,nssv1765689,nssv1765664,nssv1765682,nssv1765692 M 97 10 0 RHD,TMEM50A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1136071 1 25621700 25628100 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3989678 M 2 0 1 RHD KWS2 dgv207n54 1 25625046 25646933 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545860,nsv545859 M 17421 0 3 RHD nsv5871770 1 25625775 25628258 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364434 M 914 0 1 RHD nsv3053573 1 25626521 25626521 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021900 M 2 1 0 RHD NA12878 nsv3053574 1 25627763 25627763 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031125 M 2 1 0 RHD NA12878 nsv5616650 1 25627764 25627764 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064636 M 35 1 0 RHD HG03732 nsv1010001 1 25628073 25685832 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468965 M 11257 1 0 RHD,TMEM50A nsv545861 1 25629638 25646933 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711801 M 17421 1 0 RHD dgv208n54 1 25629638 25659687 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545862,nsv545865,nsv545864 M 17421 0 23 RHD nsv4037881 1 25630900 25636000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851648 M 10847 0 1 RHD nsv6333497 1 25631329 25642967 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060294 M 19652 0 1 RHD nsv545863 1 25634205 25646933 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711819,nssv711812,nssv711811,nssv711803,nssv711814,nssv711818,nssv711804,nssv711813,nssv711810,nssv711807,nssv711805,nssv711817,nssv711806,nssv711808,nssv711809,nssv711816,nssv711815 M 17421 0 17 RHD dgv209n54 1 25634205 25664799 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545871,nsv545869,nsv545867,nsv545866 M 17421 0 10 RHD,TMEM50A nsv4033347 1 25634950 25643050 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851649 M 10847 0 1 RHD nsv5683667 1 25635729 25635729 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188758 M 3202 1 0 RHD nsv5411749 1 25635729 25635780 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900198 M 3202 1 0 RHD nsv5829800 1 25636766 25645529 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464026,nssv17469245 M 914 0 0 RHD nsv821617 1 25637805 25686904 CNV loss Sebat_et_al_2004 15273396 ROMA nssv1421385,nssv1421396 M 31 0 2 RHD,TMEM50A dgv210n54 1 25638253 25659687 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545870,nsv545868 M 17421 0 3 RHD nsv834480 1 25638598 25769298 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444251 M 95 1 0 RHCE,RHD,TMEM50A,TMEM57 nsv5956695 1 25639411 25639411 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17355338 M 914 1 0 RHD nsv4043550 1 25639500 25650000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851650 M 10847 0 1 RHD nsv6546070 1 25641618 25703872 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251554 M 19652 0 0 RHCE,RHD,TMEM50A nsv5829801 1 25641852 25650272 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457727,nssv17452464 M 914 0 0 RHD nsv6139051 1 25643654 25651654 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900199 M 3202 1 0 RHD nsv4037089 1 25644400 25649500 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851651 M 10847 0 1 RHD nsv5829920 1 25644425 25650272 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455198,nssv17468301 M 914 0 0 RHD nsv5562729 1 25645125 25700186 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900200 M 3202 0 0 RHCE,RHD,TMEM50A nsv5615330 1 25649056 25649056 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064637 M 35 1 0 RHD HG02011 nsv6048261 1 25649058 25649058 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522278 M 405 1 0 RHD nsv4038510 1 25655000 25661350 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851652 M 10847 0 1 RHD nsv4049016 1 25655000 25662000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15780877,nssv15780879,nssv15780876,nssv15780878 M 10847 0 0 RHD nsv6325287 1 25655392 25679191 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202831 M 19652 1 0 RHD,TMEM50A nsv499798 1 25655520 25693203 OTHER inversion Kidd_et_al_2010b 21111241 Sequencing nssv585484 M 9 0 0 RHCE,RHD,TMEM50A nsv6100760 1 25655520 25695548 OTHER inversion Wu_et_al_2021 34764282 Sequencing nssv17529514 M 405 0 0 RHCE,RHD,TMEM50A nsv5829921 1 25655793 25657322 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464770,nssv17458892 M 914 0 0 RHD nsv5829922 1 25655794 25661263 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458352,nssv17462449 M 914 0 0 RHD nsv6101235 1 25656214 25667089 OTHER inversion Wu_et_al_2021 34764282 Sequencing nssv17535556 M 405 0 0 RHD,TMEM50A nsv4752259 1 25656222 25667094 OTHER inversion Quan_et_al_2021 34034800 Sequencing nssv16296290 M 25 0 0 RHD,TMEM50A nsv5875758 1 25657537 25658136 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364091 M 914 0 1 "" nsv5983606 1 25657540 25658137 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522759 M 405 0 1 "" nsv5983607 1 25658202 25658377 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524059 M 405 0 1 "" nsv5577667 1 25658225 25658397 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064638 M 35 0 1 "" HG02587 dgv34n209 1 25658443 25662269 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5829957,nsv5829802 M 914 0 0 "" nsv5829923 1 25661112 25683067 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456937 M 914 0 0 TMEM50A dgv9n97 1 25661501 25678084 CNV deletion Lou_et_al_2014 25026903 SNP array nsv1155401,nsv1155421 M 131 0 2 TMEM50A nsv1009831 1 25663298 25746239 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468788 M 11257 1 0 RHCE,TMEM50A nsv5669492 1 25664847 25688912 OTHER inversion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064639 M 35 0 0 RHCE,TMEM50A HG01596 nsv5725064 1 25665850 25665850 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17234065 M 3202 1 0 TMEM50A nsv5558104 1 25665850 25665901 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900201 M 3202 1 0 TMEM50A nsv5414720 1 25666491 25731654 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900202 M 3202 1 0 RHCE,TMEM50A nsv5432385 1 25666822 25689654 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900203 M 3202 1 0 RHCE,TMEM50A nsv4433108 1 25667001 25689000 CNV duplication Deng_et_al_2019 31718558 Sequencing nssv15753023 M 15 1 0 RHCE,TMEM50A MDQ025 dgv10n145 1 25667354 25688889 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nsv3113933,nsv3115312 M 467 4 0 RHCE,TMEM50A sample188,sample217,sample391,sample71 nsv4047957 1 25667947 25668045 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851653 M 10847 0 1 TMEM50A nsv4047181 1 25668000 25689000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966134 M 10847 1 0 RHCE,TMEM50A nsv6549824 1 25670778 25683223 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251555 M 19652 0 0 TMEM50A nsv4036919 1 25671614 25671685 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851654 M 10847 0 1 TMEM50A nsv6323609 1 25671653 25674943 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202832 M 19652 1 0 TMEM50A nsv6540727 1 25672090 25672406 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251556 M 19652 0 0 TMEM50A esv3585524 1 25672907 25678659 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893127,essv9893136,essv9893123,essv9893134,essv9893129,essv9893135,essv9893126,essv9893114,essv9893111,essv9893122,essv9893117,essv9893128,essv9893113,essv9893120,essv9893118,essv9893121,essv9893116,essv9893130,essv9893115,essv9893124,essv9893112,essv9893125,essv9893131,essv9893119,essv9893133,essv9893132 M 2504 26 0 TMEM50A HG00445,HG00542,HG00589,HG00879,HG01028,HG01503,HG01597,HG01600,HG01807,HG01809,HG01811,HG01860,HG01862,HG02154,HG02180,HG02184,HG02364,HG02367,HG02407,HG02410,HG04156,HG04227,NA07000,NA18550,NA18740,NA18915 nsv6320076 1 25674792 25677491 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060295 M 19652 0 1 TMEM50A nsv5829958 1 25676722 25686848 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459024 M 914 0 0 TMEM50A nsv6548872 1 25677037 25677590 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251557 M 19652 0 0 TMEM50A nsv5970372 1 25677391 25696507 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17352195 M 914 0 0 RHCE,TMEM50A nsv6555182 1 25677392 25696479 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251558 M 19652 0 0 RHCE,TMEM50A nsv6546369 1 25680476 25680879 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251559 M 19652 0 0 TMEM50A nsv4572650 1 25680887 25680888 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030952 M 10847 1 0 TMEM50A esv3585525 1 25681734 25694129 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893137,essv9893157,essv9893156,essv9893158,essv9893146,essv9893159,essv9893152,essv9893160,essv9893150,essv9893142,essv9893147,essv9893140,essv9893149,essv9893141,essv9893153,essv9893143,essv9893145,essv9893138,essv9893155,essv9893139,essv9893154,essv9893144,essv9893148,essv9893151 M 2504 24 0 RHCE,TMEM50A HG00445,HG00542,HG00589,HG00879,HG01028,HG01597,HG01600,HG01807,HG01809,HG01811,HG01843,HG01860,HG01862,HG02154,HG02180,HG02184,HG02364,HG02367,HG02407,HG02410,HG04156,NA18550,NA18562,NA18740 nsv5983689 1 25684051 25684125 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519365 M 405 0 1 TMEM50A nsv5423635 1 25684101 25684168 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900204 M 3202 0 1 TMEM50A nsv5416860 1 25685496 25685620 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900205 M 3202 1 0 TMEM50A nsv4570550 1 25686022 25686023 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030963 M 10847 1 0 TMEM50A nsv5721982 1 25686038 25686038 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17242664 M 3202 1 0 TMEM50A esv996331 1 25688566 25750568 CNV gain Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3586287 M 3 1 0 RHCE,TMEM50A HuRef esv28510 1 25688611 25751772 CNV gain+loss Conrad_et_al_2009 19812545 Oligo aCGH esv10711,esv21345,esv16269 M 40 23 7 RHCE,TMEM50A NA07045,NA11894,NA11993,NA12004,NA12006,NA12156,NA12239,NA12287,NA12414,NA12749,NA18502,NA18505,NA18508,NA18511,NA18517,NA18523,NA18858,NA18907,NA18909,NA18916,NA19099,NA19108,NA19114,NA19129,NA19147,NA19190,NA19225,NA19240,NA19257 nsv482037 1 25688741 25747363 CNV gain Schuster_et_al_2010 20164927 Oligo aCGH,Sequencing nssv558398 M 1 1 0 RHCE,TMEM50A KB1 esv3585526 1 25688926 25700415 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893166,essv9893175,essv9893170,essv9893171,essv9893168,essv9893178,essv9893167,essv9893173,essv9893169,essv9893182,essv9893209,essv9893165,essv9893181,essv9893212,essv9893161,essv9893177,essv9893211,essv9893164,essv9893172,essv9893213,essv9893162,essv9893174,essv9893210,essv9893163,essv9893176,essv9893241,essv9893179,essv9893225,essv9893180,essv9893239,essv9893244,essv9893228,essv9893252,essv9893235,essv9893259,essv9893218,essv9893249,essv9893231,essv9893257,essv9893232,essv9893254,essv9893236,essv9893258,essv9893215,essv9893255,essv9893237,essv9893247,essv9893230,essv9893243,essv9893240,essv9893245,essv9893220,essv9893242,essv9893226,essv9893248,essv9893224,essv9893246,essv9893221,essv9893251,essv9893216,essv9893253,essv9893219,essv9893250,essv9893227,essv9893256,essv9893214,essv9893208,essv9893238,essv9893196,essv9893233,essv9893204,essv9893217,essv9893185,essv9893234,essv9893202,essv9893223,essv9893198,essv9893222,essv9893197,essv9893229,essv9893190,essv9893200,essv9893205,essv9893186,essv9893183,essv9893193,essv9893194,essv9893184,essv9893192,essv9893191,essv9893207,essv9893199,essv9893187,essv9893206,essv9893189,essv9893188,essv9893203,essv9893201,essv9893195 M 2504 0 99 RHCE HG00096,HG00118,HG00125,HG00255,HG00357,HG00537,HG00707,HG01066,HG01104,HG01108,HG01859,HG01986,HG02002,HG02019,HG02028,HG02107,HG02260,HG02284,HG02304,HG02315,HG02373,HG02392,HG02549,HG02557,HG02561,HG02580,HG02583,HG02610,HG02623,HG02667,HG02772,HG02804,HG02811,HG02837,HG02870,HG02882,HG02891,HG03048,HG03049,HG03078,HG03270,HG03300,HG03301,HG03376,HG03382,HG03410,HG03442,HG03479,HG03548,HG03565,HG03571,HG03762,HG04042,NA12749,NA12776,NA18499,NA18533,NA18595,NA18602,NA18617,NA18621,NA18749,NA18864,NA18965,NA19003,NA19017,NA19020,NA19026,NA19035,NA19042,NA19056,NA19076,NA19093,NA19102,NA19113,NA19210,NA19319,NA19323,NA19351,NA19355,NA19374,NA19375,NA19397,NA19401,NA19404,NA19428,NA19436,NA19443,NA19446,NA19454,NA19648,NA19725,NA19782,NA19904,NA19913,NA19984,NA20339,NA20348,NA20904 esv3585527 1 25688926 25700415 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893268,essv9893264,essv9893269,essv9893261,essv9893267,essv9893260,essv9893265,essv9893270,essv9893266,essv9893271,essv9893262,essv9893263 M 2504 12 0 RHCE HG00536,HG01369,HG01862,HG02144,HG03109,HG04035,HG04141,NA12043,NA18548,NA18550,NA21089,NA21133 dgv211n54 1 25688997 25694977 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545872,nsv545874,nsv545873 M 17421 0 10 RHCE nsv945834 1 25689055 25721771 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765750,nssv1765744,nssv1765818,nssv1765768,nssv1765741,nssv1765763,nssv1765742,nssv1765770,nssv1765743,nssv1765760,nssv1765749,nssv1765771,nssv1765791,nssv1765815,nssv1765779,nssv1765774,nssv1765781,nssv1765810,nssv1765786,nssv1765813,nssv1765807,nssv1765772,nssv1765802,nssv1765751,nssv1765806,nssv1765762,nssv1765801,nssv1765811,nssv1765797,nssv1765819,nssv1765803,nssv1765814,nssv1765796,nssv1765765,nssv1765792,nssv1765754,nssv1765787,nssv1765767,nssv1765808,nssv1765816,nssv1765782,nssv1765753,nssv1765805,nssv1765745,nssv1765794,nssv1765740,nssv1765788,nssv1765766,nssv1765789,nssv1765747,nssv1765784,nssv1765746,nssv1765799,nssv1765764,nssv1765804,nssv1765773,nssv1765778,nssv1765812,nssv1765783,nssv1765817,nssv1765793,nssv1765769,nssv1765785,nssv1765748,nssv1765809,nssv1765752,nssv1765800,nssv1765759,nssv1765798,nssv1765758,nssv1765780,nssv1765761,nssv1765795,nssv1765775,nssv1765790,nssv1765757,nssv1765756,nssv1765777,nssv1765776,nssv1765755 M 97 10 0 RHCE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv212n54 1 25690951 25694977 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545877,nsv545876,nsv545875,nsv545878 M 17421 0 6 RHCE nsv5426798 1 25692654 25735654 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900207 M 3202 0 1 RHCE nsv4042580 1 25693000 25746000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966135 M 10847 1 0 RHCE nsv5422743 1 25693654 25701122 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900208 M 3202 0 1 RHCE nsv5430016 1 25693654 25721654 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900209 M 3202 0 1 RHCE dgv132n223 1 25694092 25700591 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6316647,nsv6326990 M 19652 2 0 RHCE nsv6333935 1 25694092 25758391 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202834 M 19652 1 0 RHCE,TMEM57 nsv5829803 1 25694160 25701843 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462899,nssv17464986 M 914 0 0 RHCE nsv4044278 1 25694500 25700500 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966136 M 10847 1 0 RHCE nsv4051506 1 25694500 25701000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851656 M 10847 0 1 RHCE dgv40n166 1 25695000 25732000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4046754,nsv4038437 M 10847 2 0 RHCE nsv3324116 1 25695342 25696320 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488761 M 14 0 1 RHCE NA19434 nsv5580513 1 25695347 25696324 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064640 M 35 0 1 RHCE HG00096 nsv4745585 1 25695390 25696370 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16287012 M 25 0 1 RHCE nsv5983476 1 25695452 25696279 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518425 M 405 0 1 RHCE dgv213n54 1 25695608 25698655 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545879,nsv545880 M 17421 0 4 RHCE nsv5829658 1 25700706 25707744 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455789,nssv17458960 M 914 0 0 RHCE nsv4044627 1 25701500 25708000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966138 M 10847 1 0 RHCE nsv6324837 1 25701992 25703791 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202836 M 19652 1 0 RHCE nsv5829924 1 25702232 25703760 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466634,nssv17464143 M 914 0 0 RHCE nsv5873119 1 25702839 25705665 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356016 M 914 0 1 RHCE esv3664238 1 25703702 25703702 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487018 M 20 1 0 RHCE nsv6111750 1 25704136 25730991 OTHER inversion Wu_et_al_2021 34764282 Sequencing nssv17536338 M 405 0 0 RHCE nsv5829804 1 25707845 25719825 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460188,nssv17450707 M 914 0 0 RHCE dgv133n223 1 25708292 25724191 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6322084,nsv6320230 M 19652 2 0 RHCE nsv5419322 1 25708991 25725756 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900210 M 3202 1 0 RHCE nsv4036780 1 25709000 25714000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966140 M 10847 1 0 RHCE nsv4045383 1 25709000 25725550 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966141 M 10847 1 0 RHCE nsv4035527 1 25709000 25732000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851657 M 10847 0 1 RHCE esv3585528 1 25709998 25722241 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893273,essv9893272 M 2504 0 2 RHCE NA12776,NA19056 esv3585529 1 25709998 25722241 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893317,essv9893311,essv9893316,essv9893303,essv9893313,essv9893308,essv9893312,essv9893305,essv9893314,essv9893302,essv9893315,essv9893301,essv9893275,essv9893286,essv9893309,essv9893280,essv9893282,essv9893306,essv9893276,essv9893293,essv9893298,essv9893278,essv9893281,essv9893300,essv9893279,essv9893287,essv9893299,essv9893277,essv9893285,essv9893310,essv9893289,essv9893307,essv9893292,essv9893304,essv9893291,essv9893297,essv9893283,essv9893295,essv9893284,essv9893296,essv9893290,essv9893294,essv9893288,essv9893274 M 2504 44 0 RHCE HG00536,HG01883,HG01958,HG02144,HG02283,HG02322,HG02323,HG02489,HG02760,HG02855,HG02923,HG02968,HG02971,HG03054,HG03130,HG03132,HG03163,HG03168,HG03198,HG03294,HG03577,HG04039,HG04141,NA18508,NA18548,NA18550,NA18864,NA18910,NA19019,NA19030,NA19098,NA19099,NA19137,NA19160,NA19214,NA19256,NA19257,NA19315,NA19391,NA19704,NA19917,NA20281,NA20294,NA21133 esv2762137 1 25711056 25723250 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7005276 M 1109 1 0 RHCE RW_0117 nsv7479 1 25711737 25744418 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6452 M 9 1 0 RHCE NA12156 nsv6322232 1 25713792 25718991 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202839 M 19652 1 0 RHCE nsv6110361 1 25714162 25721856 OTHER inversion Wu_et_al_2021 34764282 Sequencing nssv17534208 M 405 0 0 RHCE nsv6324488 1 25714792 25723391 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202840 M 19652 1 0 RHCE nsv6321171 1 25715392 25719091 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202841 M 19652 1 0 RHCE nsv4461099 1 25716134 25716135 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030974 M 10847 1 0 RHCE nsv5433153 1 25717491 25735654 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900211 M 3202 0 1 RHCE nsv5569708 1 25717652 25718303 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064641 M 35 0 1 RHCE HG03371 nsv5582188 1 25719561 25719848 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064642 M 35 0 1 RHCE HG03371 nsv945835 1 25721771 25729357 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765912,nssv1765902,nssv1765889,nssv1765838,nssv1765873,nssv1765851,nssv1765861,nssv1765904,nssv1765866,nssv1765843,nssv1765875,nssv1765836,nssv1765869,nssv1765854,nssv1765874,nssv1765841,nssv1765870,nssv1765848,nssv1765882,nssv1765835,nssv1765887,nssv1765837,nssv1765858,nssv1765906,nssv1765915,nssv1765840,nssv1765877,nssv1765845,nssv1765896,nssv1765842,nssv1765881,nssv1765850,nssv1765886,nssv1765849,nssv1765872,nssv1765899,nssv1765890,nssv1765855,nssv1765895,nssv1765900,nssv1765859,nssv1765852,nssv1765893,nssv1765820,nssv1765911,nssv1765897,nssv1765892,nssv1765847,nssv1765867,nssv1765826,nssv1765865,nssv1765827,nssv1765907,nssv1765833,nssv1765913,nssv1765834,nssv1765894,nssv1765846,nssv1765876,nssv1765839,nssv1765910,nssv1765825,nssv1765909,nssv1765853,nssv1765885,nssv1765901,nssv1765862,nssv1765903,nssv1765868,nssv1765828,nssv1765860,nssv1765898,nssv1765914,nssv1765824,nssv1765888,nssv1765832,nssv1765883,nssv1765831,nssv1765908,nssv1765856,nssv1765916,nssv1765844,nssv1765879,nssv1765857,nssv1765864,nssv1765830,nssv1765884,nssv1765905,nssv1765871,nssv1765829,nssv1765878,nssv1765822,nssv1765891,nssv1765823,nssv1765863,nssv1765821,nssv1765880 M 97 10 0 RHCE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4047862 1 25724500 25732000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966142 M 10847 1 0 RHCE nsv4040214 1 25724786 25726071 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851658 M 10847 0 1 RHCE nsv5423291 1 25724786 25726071 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900212 M 3202 0 1 RHCE nsv5413986 1 25724841 25732072 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900213 M 3202 1 0 RHCE nsv5829959 1 25725178 25727156 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459694,nssv17467358 M 914 0 0 RHCE nsv5829960 1 25726080 25731792 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468082,nssv17451090 M 914 0 0 RHCE nsv5829805 1 25727457 25730591 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467969,nssv17456344 M 914 0 0 RHCE nsv5829659 1 25729021 25731386 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463611,nssv17451267 M 914 0 0 RHCE nsv945837 1 25729357 25752322 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766664,nssv1765940,nssv1766640,nssv1765936,nssv1766642,nssv1765932,nssv1766663,nssv1765939,nssv1766658,nssv1765953,nssv1766646,nssv1765941,nssv1765955,nssv1765931,nssv1766648,nssv1766672,nssv1766656,nssv1765921,nssv1766666,nssv1765938,nssv1766645,nssv1766679,nssv1766644,nssv1765954,nssv1766643,nssv1766674,nssv1766655,nssv1765937,nssv1766659,nssv1765950,nssv1766667,nssv1765924,nssv1766652,nssv1766675,nssv1766665,nssv1765923,nssv1766641,nssv1766676,nssv1766651,nssv1765944,nssv1766653,nssv1765935,nssv1766660,nssv1765943,nssv1766654,nssv1765952,nssv1766650,nssv1766677,nssv1766668,nssv1765922,nssv1766639,nssv1766671,nssv1766657,nssv1765925,nssv1766662,nssv1765946,nssv1766669,nssv1765942,nssv1766649,nssv1765951,nssv1766661,nssv1765949,nssv1766647,nssv1765929,nssv1765927,nssv1765934,nssv1765920,nssv1766673,nssv1765926,nssv1765948,nssv1765919,nssv1765930,nssv1766678,nssv1765928,nssv1765918,nssv1765947,nssv1765945,nssv1765933,nssv1765917,nssv1766670 M 97 10 0 RHCE HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6544869 1 25731548 25732971 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251560 M 19652 0 0 RHCE nsv6051480 1 25732083 25732083 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532119 M 405 1 0 RHCE nsv3060804 1 25732084 25732084 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14018831 M 2 1 0 RHCE CHM1 nsv3187240 1 25732085 25732195 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440525,nssv14413833 M 9 0 0 RHCE HG00514,HG00733 nsv2801801 1 25732086 25732086 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689299 M 2 1 0 RHCE nsv3323221 1 25732086 25732086 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480261,nssv14482904,nssv14488870,nssv14484419,nssv14475135,nssv14482776 M 14 6 0 RHCE CHM1,CHM13,HG00514,HG01352,HG02059,HG02106 nsv3934244 1 25732086 25732086 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191487 M 1 1 0 RHCE HG002 nsv6322411 1 25732092 25736291 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060296 M 19652 0 1 RHCE nsv5829660 1 25732093 25734458 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463146 M 914 0 0 RHCE nsv5829925 1 25732094 25735817 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451967,nssv17468012 M 914 0 0 RHCE nsv5622340 1 25732098 25732098 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064643 M 35 1 0 RHCE HG00731 nsv1077270 1 25732099 25736200 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766340 M 1 0 1 RHCE KWP1 nsv1143443 1 25732100 25736300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980643 M 2 0 1 RHCE KWS1 nsv4754670 1 25732102 25732102 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16267867 M 25 1 0 RHCE nsv6548446 1 25732165 25732805 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251561 M 19652 0 0 RHCE nsv545881 1 25732548 25736126 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711875 M 17421 0 1 RHCE esv3664249 1 25733121 25733121 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487028 M 20 1 0 RHCE nsv5429392 1 25733654 25743654 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900215 M 3202 0 1 RHCE nsv6138806 1 25736058 25737644 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900216 M 3202 0 1 RHCE nsv6328712 1 25736115 25737673 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060297 M 19652 0 1 RHCE nsv5829961 1 25736149 25737716 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453455 M 914 0 0 RHCE nsv5609837 1 25736763 25736763 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064644 M 35 1 0 RHCE HG00731 nsv6046628 1 25736763 25736763 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529849 M 405 1 0 RHCE nsv6138162 1 25737654 25745654 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900218 M 3202 1 0 RHCE esv3664256 1 25739201 25739201 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487034 M 20 1 0 RHCE nsv5829926 1 25740533 25743409 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460992 M 914 0 0 RHCE nsv480324 1 25741162 25741162 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010836 M 9 0 0 RHCE nsv479344 1 25742116 25742116 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013510 M 9 0 0 RHCE nsv481117 1 25744651 25744651 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016459 M 9 0 0 RHCE nsv479861 1 25747547 25747547 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010883 M 9 0 0 "" nsv479805 1 25747608 25747608 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011109 M 9 0 0 "" nsv479901 1 25747843 25747843 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011143 M 9 0 0 "" nsv480379 1 25748206 25748206 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018956 M 9 0 0 "" nsv479196 1 25748746 25748746 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014536 M 9 0 0 "" nsv479194 1 25748834 25748834 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020531 M 9 0 0 "" nsv6317623 1 25752892 25760991 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202842 M 19652 1 0 TMEM57 nsv479086 1 25754209 25754209 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011071 M 9 0 0 "" dgv11n145 1 25755009 25760014 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nsv3118070,nsv3116263 M 467 2 0 TMEM57 sample365,sample412 nsv5693028 1 25755734 25755734 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17189075 M 3202 1 0 "" dgv12n145 1 25756443 25761292 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nsv3114211,nsv3116091 M 467 2 0 TMEM57 sample359,sample362 esv2570786 1 25758523 25760034 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5375032 M 1 0 1 TMEM57 NA18507 nsv5829927 1 25758785 25764584 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457474 M 914 0 0 TMEM57 nsv5870548 1 25758997 25764532 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353737 M 914 0 1 TMEM57 nsv480155 1 25759576 25759576 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020275 M 9 0 0 TMEM57 nsv474866 1 25759583 25759583 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010859 M 9 1 0 TMEM57 NA18956 nsv4034896 1 25759770 25760558 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851659 M 10847 0 1 TMEM57 nsv477052 1 25761529 25761529 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020165 M 9 1 0 TMEM57 NA18517 nsv471819 1 25762081 25762081 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012970 M 9 1 0 TMEM57 NA18555 nsv479992 1 25762358 25762358 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016889 M 9 0 0 TMEM57 nsv479544 1 25763054 25763054 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017923 M 9 0 0 TMEM57 nsv480469 1 25763169 25763169 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011202 M 9 0 0 TMEM57 nsv480564 1 25763283 25763283 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019950 M 9 0 0 TMEM57 nsv6545344 1 25763837 25764236 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251562 M 19652 0 0 TMEM57 nsv4534981 1 25765097 25765098 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030983 M 10847 1 0 TMEM57 nsv4041782 1 25765807 25767145 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851660 M 10847 0 1 TMEM57 nsv4047594 1 25766175 25766573 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851661 M 10847 0 1 TMEM57 nsv6322571 1 25766319 25766988 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060298 M 19652 0 1 TMEM57 nsv6554174 1 25766983 25767782 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251563 M 19652 0 0 TMEM57 nsv480070 1 25767599 25767599 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014701 M 9 0 0 TMEM57 nsv474100 1 25770514 25770514 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015884 M 9 1 0 TMEM57 NA12156 nsv6552853 1 25770693 25771350 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251564 M 19652 0 0 TMEM57 esv3664265 1 25771789 25771789 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487042 M 20 1 0 TMEM57 nsv4567238 1 25771902 25771903 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030992 M 10847 1 0 TMEM57 nsv6258060 1 25772062 25772062 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841957 M 1021 1 0 TMEM57 nsv479765 1 25772411 25772411 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011014 M 9 0 0 TMEM57 nsv480393 1 25772660 25772660 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010911 M 9 0 0 TMEM57 nsv474039 1 25772724 25772724 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019468 M 9 1 0 TMEM57 NA12156 nsv4460798 1 25775244 25775245 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031001 M 10847 1 0 TMEM57 nsv479656 1 25775472 25775472 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016917 M 9 0 0 TMEM57 nsv1113091 1 25779936 25780003 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967984 M 2 0 1 TMEM57 KWS2 nsv5967438 1 25780980 25780980 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366098 M 914 1 0 TMEM57 nsv4533563 1 25783917 25783918 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031011 M 10847 1 0 TMEM57 nsv5675515 1 25783932 25783932 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188612 M 3202 1 0 TMEM57 nsv5544343 1 25783932 25783968 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900220 M 3202 1 0 TMEM57 nsv4041783 1 25785706 25785759 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851662 M 10847 0 1 TMEM57 nsv5878998 1 25785707 25785758 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368278 M 914 0 1 TMEM57 nsv5420211 1 25785708 25785759 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900221 M 3202 0 1 TMEM57 esv3670981 1 25789242 25789242 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493088 M 20 1 0 TMEM57 nsv6542428 1 25792838 25793478 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251565 M 19652 0 0 TMEM57 nsv5881028 1 25793499 25804485 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355613 M 914 0 1 TMEM57 nsv5433604 1 25793545 25804479 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900224 M 3202 0 1 TMEM57 nsv5983477 1 25793755 25804480 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530122 M 405 0 1 TMEM57 nsv3111776 1 25794512 25803209 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14106158 M 467 0 1 TMEM57 sample61 nsv6541731 1 25796320 25797504 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251566 M 19652 0 0 TMEM57 nsv4537002 1 25801536 25801537 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031020 M 10847 1 0 TMEM57 nsv6331481 1 25801682 25804554 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060299 M 19652 0 1 TMEM57 nsv4461503 1 25805145 25805146 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030523 M 10847 1 0 TMEM57 nsv4535091 1 25810011 25810012 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030534 M 10847 1 0 TMEM57 nsv6319058 1 25831326 25833259 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060300 M 19652 0 1 "" nsv1152260 1 25834999 25839200 CNV duplication John_et_al_2014 26484159 Sequencing nssv3996867 M 1 1 0 "" KWB1 dgv71e59 1 25835265 25835563 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3445747,esv3413689 M 185 2 0 "" NA12891,NA12892 nsv5983522 1 25835412 25835518 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519883 M 405 0 1 "" nsv3215248 1 25841680 25856840 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261053,nssv14261052 M 9 2 0 "" HG00732,NA19238 nsv3217409 1 25850627 25874089 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267104,nssv14267103,nssv14267102,nssv14267105,nssv14267100,nssv14267101,nssv14267106 M 9 7 0 LDLRAP1 HG00512,HG00513,HG00731,HG00732,HG00733,NA19239,NA19240 nsv5422162 1 25853294 25853372 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900226 M 3202 0 1 "" esv3450111 1 25855692 25856075 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652078 M 185 1 0 "" NA19240 nsv5983690 1 25855720 25856005 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17532392 M 405 1 0 "" nsv4763049 1 25855960 25855960 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16289363 M 25 1 0 "" nsv3538397 1 25855990 25855990 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373396,nssv14440526,nssv14413834 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3946056 1 25855990 25855990 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192738 M 1 1 0 "" HG002 nsv4444702 1 25855990 25855990 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757299 M 1 1 0 "" nsv5620195 1 25855990 25855990 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064645 M 35 1 0 "" HG00731 nsv6055297 1 25855990 25855990 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526369 M 405 1 0 "" nsv2802066 1 25855991 25855991 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13698215 M 2 1 0 "" nsv3323423 1 25855991 25855991 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491115,nssv14490663,nssv14476448,nssv14482980,nssv14485409,nssv14484012,nssv14478076,nssv14473276,nssv14475544,nssv14490564,nssv14490670,nssv14476093,nssv14480746,nssv14473312 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3060805 1 25855992 25855992 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029319 M 2 1 0 "" CHM1 esv3310450 1 25855995 25855995 CNV novel sequence insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7843644,essv7843646,essv7843645 M 185 3 0 "" NA19238,NA19239,NA19240 nsv3064107 1 25855995 25855995 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033382 M 2 1 0 "" NA12878 esv3381307 1 25855996 25855996 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8653233,essv8653234,essv8653235 M 185 3 0 "" NA19238,NA19239,NA19240 nsv6319054 1 25858065 25859993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060301 M 19652 0 1 "" nsv6316074 1 25863303 25865943 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060302 M 19652 0 1 "" nsv6331499 1 25866027 25871362 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060303 M 19652 0 1 LDLRAP1 nsv4560808 1 25869383 25869384 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030545 M 10847 1 0 "" nsv4040239 1 25882708 26001165 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966143 M 10847 1 0 LDLRAP1,MAN1C1 nsv6327112 1 25882870 26108837 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202843 M 19652 1 0 LDLRAP1,MAN1C1 nsv480715 1 25891884 25891884 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016389 M 9 0 0 LDLRAP1 nsv5539185 1 25893931 25893979 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900230 M 3202 1 0 LDLRAP1 nsv477742 1 25896009 25896009 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019300 M 9 1 0 "" NA18517 nsv479294 1 25896150 25896150 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018335 M 9 0 0 "" nsv480818 1 25896918 25896918 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010744 M 9 0 0 "" nsv480597 1 25899487 25899487 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017202 M 9 0 0 "" esv3585530 1 25900284 25908107 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893321,essv9893318,essv9893319,essv9893320,essv9893322 M 2504 0 5 "" HG02128,NA18597,NA18618,NA18748,NA19080 nsv5829661 1 25900307 25908092 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452516 M 914 0 0 "" nsv5885879 1 25900344 25908040 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368573 M 914 0 1 "" esv2656499 1 25900344 25908041 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6239852,essv5974609,essv6229162 M 1151 0 3 "" NA18597,NA18618,NA19080 nsv5983691 1 25900344 25908041 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525919 M 405 0 1 "" nsv4048663 1 25900345 25908041 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851664 M 10847 0 1 "" nsv5414592 1 25900345 25908041 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900231 M 3202 0 1 "" nsv5829928 1 25900507 25901706 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465228,nssv17458306 M 914 0 0 "" nsv6318641 1 25900949 25914850 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202844 M 19652 1 0 "" nsv6327728 1 25902464 25902854 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060304 M 19652 0 1 "" nsv4045069 1 25902483 25902743 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851665 M 10847 0 1 "" nsv478983 1 25903057 25903057 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017876 M 9 0 0 "" nsv480023 1 25904004 25904004 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011670 M 9 0 0 "" nsv477804 1 25905082 25905082 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013432 M 9 1 0 "" NA18517 nsv481318 1 25905236 25905236 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013716 M 9 0 0 "" nsv480169 1 25906425 25906425 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019987 M 9 0 0 "" nsv479385 1 25906674 25906674 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014935 M 9 0 0 "" nsv480202 1 25906911 25906911 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016088 M 9 0 0 "" nsv476293 1 25908059 25908059 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016128 M 9 1 0 "" NA12878 nsv475325 1 25908312 25908312 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012172 M 9 1 0 "" NA19240 nsv5983523 1 25908829 25909311 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527646 M 405 0 1 "" nsv6321708 1 25908943 25909391 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060305 M 19652 0 1 "" nsv5964287 1 25908949 25908949 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17356807 M 914 1 0 "" nsv4533306 1 25908949 25908950 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030556 M 10847 1 0 "" esv3585531 1 25909019 25909512 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893323 M 2504 0 1 "" HG01842 nsv481307 1 25910339 25910339 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016750 M 9 0 0 "" nsv480669 1 25910600 25910600 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011149 M 9 0 0 "" nsv480032 1 25910874 25910874 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020469 M 9 0 0 "" nsv475110 1 25913554 25913554 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019725 M 9 1 0 "" NA19240 nsv4460799 1 25914581 25914582 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030567 M 10847 1 0 "" nsv4461100 1 25914583 25914584 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030577 M 10847 1 0 "" nsv5678958 1 25914596 25914596 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188231,nssv17205714 M 3202 2 0 "" nsv5712735 1 25914596 25914596 CNV herv insertion Chuang_et_al_2021 34772701 Sequencing nssv17232609,nssv17214482 M 3202 2 0 "" nsv5721282 1 25914596 25914596 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17234250,nssv17236762 M 3202 2 0 "" nsv4461329 1 25915002 25915003 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030584 M 10847 1 0 "" nsv5962078 1 25915795 25915795 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366898 M 914 1 0 "" nsv6054726 1 25915795 25915795 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534089,nssv17529651 M 405 2 0 "" nsv4537425 1 25915820 25915821 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030593 M 10847 1 0 "" nsv5551667 1 25915822 25915825 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900235 M 3202 1 0 "" nsv473914 1 25915892 25915892 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016731 M 9 1 0 "" NA12156 nsv480591 1 25916283 25916283 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019801 M 9 0 0 "" nsv481331 1 25916831 25916831 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017157 M 9 0 0 "" esv3683002 1 25917382 25917449 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467779 M 20 0 1 "" nsv5983692 1 25917383 25917452 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534217 M 405 0 1 "" nsv6320139 1 25918025 25922540 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060306 M 19652 0 1 "" nsv478997 1 25919637 25919637 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011964 M 9 0 0 "" nsv480055 1 25920715 25920715 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014238 M 9 0 0 "" nsv479415 1 25924188 25924188 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010782 M 9 0 0 "" nsv481294 1 25924917 25924917 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013438 M 9 0 0 "" nsv5958884 1 25928052 25928052 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353667 M 914 1 0 "" nsv4052141 1 25929000 25934000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851666 M 10847 0 1 "" esv3585532 1 25929212 25934159 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893324,essv9893325 M 2504 0 2 "" HG01431,HG01918 nsv5425611 1 25929219 25934158 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900238 M 3202 0 1 "" nsv6327126 1 25929219 25934158 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060547 M 19652 0 1 "" nsv4759107 1 25930414 25930414 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16290063 M 25 1 0 "" nsv6042693 1 25930423 25930423 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524221 M 405 1 0 "" nsv5624207 1 25930424 25930424 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064646 M 35 1 0 "" HG03125 nsv3323222 1 25930425 25930425 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482119,nssv14472606 M 14 2 0 "" HG02059,HX1 nsv6050452 1 25930508 25930508 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519472 M 405 1 0 "" nsv6138114 1 25930859 25930920 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900240 M 3202 0 1 "" nsv4050443 1 25930859 25930940 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851667 M 10847 0 1 "" nsv6258071 1 25932182 25932182 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17841958 M 1021 1 0 "" nsv6335523 1 25939322 25940718 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060548 M 19652 0 1 "" nsv4035184 1 25943108 25943200 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851668 M 10847 0 1 "" nsv5425989 1 25943108 25943200 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900241 M 3202 0 1 "" nsv4461330 1 25948843 25948844 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030604 M 10847 1 0 MAN1C1 nsv5422842 1 25959594 25962165 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900242 M 3202 0 1 MAN1C1 esv3585533 1 25959693 25962318 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893326 M 2504 0 1 MAN1C1 HG02769 nsv5727436 1 25964406 25964406 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17239806 M 3202 1 0 MAN1C1 nsv5555708 1 25964406 25964457 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900243 M 3202 1 0 MAN1C1 esv3667680 1 25969933 25970265 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490116 M 20 0 0 MAN1C1 nsv4043711 1 25978845 25981696 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851669 M 10847 0 1 MAN1C1 nsv4049429 1 25988063 25989358 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851670 M 10847 0 1 MAN1C1 nsv6333667 1 25988171 25989303 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060549 M 19652 0 1 MAN1C1 esv3358130 1 25990753 25990784 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863684 M 185 1 0 MAN1C1 NA12005 nsv4043483 1 25992800 26003640 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851671 M 10847 0 1 MAN1C1 nsv5693181 1 26014512 26014512 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205715,nssv17189597 M 3202 2 0 MAN1C1 nsv5412117 1 26014512 26014563 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900246 M 3202 1 0 MAN1C1 nsv6326359 1 26015931 26035834 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202845 M 19652 1 0 MAN1C1 nsv6326676 1 26024447 26030389 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060550 M 19652 0 1 MAN1C1 nsv6329845 1 26028577 26034532 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202846 M 19652 1 0 MAN1C1 esv3357351 1 26041565 26042363 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692258 M 185 1 0 MAN1C1 NA19239 nsv4037169 1 26042341 26080044 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966144 M 10847 1 0 MAN1C1 nsv6320287 1 26050575 26055999 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060551 M 19652 0 1 MAN1C1 nsv5533987 1 26051004 26051004 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900247 M 3202 1 0 MAN1C1 nsv5604585 1 26051004 26051004 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064286 M 35 1 0 MAN1C1 HG00731 nsv5947615 1 26051004 26051004 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17369570 M 914 1 0 MAN1C1 nsv834491 1 26052902 26240608 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444262,nssv1444273 M 95 0 2 AUNIP,LOC646471,MAN1C1,MIR3917,MTFR1L,PAQR7,SEPN1,STMN1 nsv4042571 1 26060444 26060505 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851672 M 10847 0 1 MAN1C1 nsv545882 1 26067461 26122097 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv711876 M 17421 0 1 MAN1C1 nsv4517007 1 26077526 26077576 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851674 M 10847 0 1 MAN1C1 nsv3541361 1 26077748 26077748 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413835 M 9 1 0 MAN1C1 HG00514 nsv3561653 1 26077749 26077749 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355271 M 9 1 0 MAN1C1 HG00514 nsv3937194 1 26077749 26077749 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192748 M 1 1 0 MAN1C1 HG002 nsv4444703 1 26077749 26077749 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762624 M 1 1 0 MAN1C1 nsv5613881 1 26077749 26077749 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064287 M 35 1 0 MAN1C1 HG00731 nsv3323223 1 26077750 26077750 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483411 M 14 1 0 MAN1C1 HG00268 nsv6047214 1 26077795 26077795 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528894 M 405 1 0 MAN1C1 nsv2801802 1 26077796 26077796 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682639 M 2 1 0 MAN1C1 nsv3323224 1 26077796 26077796 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483175,nssv14479934,nssv14474559,nssv14487267 M 14 4 0 MAN1C1 CHM1,HG00514,HG01352,NA12878 nsv4753191 1 26077802 26077802 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16283211 M 25 1 0 MAN1C1 nsv3053575 1 26077821 26077821 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032596 M 2 1 0 MAN1C1 NA12878 nsv3171484 1 26077824 26077882 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413836 M 9 0 0 MAN1C1 HG00514 nsv3056798 1 26077848 26077848 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025469 M 2 1 0 MAN1C1 CHM1 nsv947417 1 26081484 26087132 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2759055 M 97 1 0 MAN1C1 HGDP00998 nsv819900 1 26088942 26092837 CNV gain Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419585 M 2 1 0 MAN1C1 AK1 nsv5983608 1 26090292 26090399 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527096 M 405 0 1 MAN1C1 nsv950335 1 26093501 26096300 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997100 M 1 0 1 MAN1C1 BILGI_BIOE nsv4049070 1 26093658 26093869 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851675 M 10847 0 1 MAN1C1 nsv5417375 1 26093658 26093870 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900382 M 3202 0 1 MAN1C1 esv2745619 1 26094069 26095008 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6843954,essv6785003,essv6836199 M 96 0 3 MAN1C1 SSM011,SSM069,SSM083 esv2116011 1 26094076 26094942 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4648407 M 1 0 1 MAN1C1 NA18507 esv2671844 1 26094102 26094549 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5899214,essv5823134,essv6580691,essv6302272,essv6451449,essv5549242,essv6152273,essv5931704,essv5534911,essv5509131,essv6244162,essv6104479,essv6511818,essv6500767,essv6463989,essv6152211,essv5748706,essv6501573,essv6419141,essv5766028,essv5944376,essv5949810,essv6514627,essv6022301,essv6039679,essv6128223,essv6199445,essv6001839,essv6305917,essv6052212,essv5662503,essv6542553,essv5597764,essv5578674,essv6336565,essv6169379,essv5600099,essv5923415,essv6356210,essv5971021,essv6488467,essv6438205,essv5900991,essv5507160,essv5809589,essv5663711 M 1151 0 46 MAN1C1 HG00149,HG00182,HG00242,HG00265,HG00366,HG00690,HG00704,HG00708,HG01112,HG01134,HG01137,HG01148,HG01353,HG01366,HG01389,HG01518,HG01519,NA12272,NA18606,NA18615,NA18618,NA18870,NA18963,NA19010,NA19072,NA19082,NA19084,NA19331,NA19355,NA19373,NA19385,NA19397,NA19431,NA19452,NA19717,NA19729,NA19750,NA19756,NA19783,NA20294,NA20344,NA20356,NA20581,NA20755,NA20757,NA20778 nsv5571963 1 26094207 26094768 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064288 M 35 0 1 MAN1C1 HG03009 nsv5566221 1 26094222 26094411 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064289 M 35 0 1 MAN1C1 HG03486 nsv2802067 1 26094563 26094563 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685276 M 2 1 0 MAN1C1 nsv3323424 1 26094563 26094563 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475623 M 14 1 0 MAN1C1 CHM1 nsv4764265 1 26094676 26094676 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16293275 M 25 1 0 MAN1C1 nsv6046071 1 26094677 26094677 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534393 M 405 1 0 MAN1C1 nsv5983693 1 26094700 26095271 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528621 M 405 0 1 MAN1C1 nsv5868750 1 26094755 26094810 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362297 M 914 0 1 MAN1C1 esv3670992 1 26094758 26094758 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493098 M 20 1 0 MAN1C1 nsv3540560 1 26094758 26094758 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14381560,nssv14440527,nssv14413838 M 9 3 0 MAN1C1 HG00514,HG00733,NA19240 nsv3945430 1 26094758 26094758 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192756 M 1 1 0 MAN1C1 HG002 nsv5620854 1 26094758 26094758 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064290 M 35 1 0 MAN1C1 HG00731 nsv6057331 1 26094758 26094758 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526126 M 405 1 0 MAN1C1 nsv2801162 1 26094759 26094759 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699436 M 2 1 0 MAN1C1 nsv3323723 1 26094759 26094759 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482213,nssv14482078,nssv14473893,nssv14473225,nssv14476663,nssv14489721,nssv14484240,nssv14478481,nssv14474363,nssv14484062,nssv14481876,nssv14477331,nssv14478681 M 14 13 0 MAN1C1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv3065746 1 26094761 26094761 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035386 M 2 1 0 MAN1C1 CHM1 esv3381476 1 26094865 26096063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692259 M 185 1 0 MAN1C1 NA19239 esv2745630 1 26095040 26095643 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6769533 M 96 0 1 MAN1C1 SSM065 nsv460884 1 26104973 26218084 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537367 M 1557 0 1 AUNIP,LOC646471,MAN1C1,MTFR1L,PAQR7,SEPN1,STMN1 HGDP01023 nsv545883 1 26104973 26218084 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173801 M 17421 0 1 AUNIP,LOC646471,MAN1C1,MTFR1L,PAQR7,SEPN1,STMN1 HGDP01023 nsv4517935 1 26113557 26113639 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851676 M 10847 0 1 "" nsv5983609 1 26114583 26119892 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535089 M 405 0 1 "" nsv7490 1 26124348 26170028 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6462 M 9 0 1 AUNIP,LOC646471,MTFR1L,SEPN1 NA12156 nsv950337 1 26126601 26146200 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997101 M 1 0 1 SEPN1 BILGI_BIOE nsv4048881 1 26126700 26126906 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851677 M 10847 0 1 SEPN1 nsv4040679 1 26126710 26126794 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851678 M 10847 0 1 SEPN1 dgv14e201 1 26134471 26135204 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2741631,esv2743347,esv2745641 M 96 0 39 SEPN1 SSM003,SSM008,SSM013,SSM014,SSM015,SSM017,SSM018,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM028,SSM029,SSM031,SSM032,SSM034,SSM037,SSM039,SSM040,SSM042,SSM043,SSM047,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM072,SSM073,SSM079,SSM080,SSM081,SSM084,SSM085,SSM087 esv2353706 1 26134600 26135049 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4547374 M 1 0 1 SEPN1 NA18507 esv2742604 1 26134636 26135065 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6892329 M 96 0 1 SEPN1 SSM098 esv2745652 1 26134691 26134830 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6675211 M 96 0 1 SEPN1 SSM032 nsv5983610 1 26134805 26134859 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531692 M 405 0 1 SEPN1 nsv3324118 1 26136362 26136435 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481815 M 14 0 1 SEPN1 NA12878 nsv5428624 1 26145928 26145996 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902417 M 3202 1 0 "" nsv5420696 1 26148155 26149257 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902419 M 3202 0 1 LOC646471,MTFR1L esv1998326 1 26148779 26149450 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4882212 M 1 0 1 LOC646471,MTFR1L NA18507 nsv5569217 1 26148939 26149264 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064291 M 35 0 1 LOC646471,MTFR1L NA19239 nsv5872402 1 26148939 26149264 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367676 M 914 0 1 LOC646471,MTFR1L esv2671091 1 26148939 26149265 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6516520,essv5397231,essv5916659,essv6069253,essv5884073,essv5999992,essv6523331,essv6484123,essv6333831,essv6231927,essv5712234,essv5485353,essv6289516,essv5587061,essv6001882,essv6065592,essv5833127,essv6251633,essv5588725,essv6368133,essv5422356,essv5594137,essv5954357,essv5857195,essv6339472,essv5956744,essv6008796,essv6245172,essv5637828,essv5877205,essv6339323,essv5541892,essv5622593,essv5784399,essv5769662,essv6301192,essv6394726,essv6355477,essv6361928,essv5754214,essv6403543,essv6277930,essv5664671,essv6506113,essv5578526,essv6126063,essv5769786,essv6385446,essv6061331,essv5440775,essv5597437,essv5852850,essv5717068,essv6504522,essv6151447,essv6500975,essv6079568,essv6412534 M 1151 0 58 LOC646471,MTFR1L HG01101,NA18498,NA18502,NA18508,NA18517,NA18853,NA18871,NA18873,NA18874,NA18907,NA18908,NA18910,NA18912,NA18916,NA19099,NA19108,NA19129,NA19130,NA19189,NA19198,NA19257,NA19319,NA19332,NA19346,NA19360,NA19371,NA19372,NA19373,NA19395,NA19396,NA19397,NA19398,NA19404,NA19428,NA19429,NA19436,NA19437,NA19440,NA19445,NA19448,NA19452,NA19453,NA19462,NA19471,NA19654,NA19703,NA19704,NA19707,NA19712,NA19713,NA19819,NA19901,NA20127,NA20281,NA20287,NA20291,NA20294,NA20346 nsv3526988 1 26148939 26149265 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355321 M 9 0 1 LOC646471,MTFR1L NA19239 nsv6335260 1 26148939 26149265 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060552 M 19652 0 1 LOC646471,MTFR1L nsv5415690 1 26148941 26149265 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902420 M 3202 0 1 LOC646471,MTFR1L nsv4036203 1 26148941 26149361 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848911 M 10847 0 1 LOC646471,MTFR1L nsv4567396 1 26157338 26157339 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030612 M 10847 1 0 MTFR1L nsv834502 1 26160772 26313919 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444284 M 95 1 0 AUNIP,MIR3917,PAFAH2,PAQR7,STMN1 nsv822165 1 26162815 26163288 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1423950 M 31 0 1 AUNIP NA18582 nsv6539095 1 26173960 26174176 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251567 M 19652 0 0 AUNIP nsv6545988 1 26179117 26179904 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251568 M 19652 0 0 AUNIP esv3664290 1 26182854 26182854 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487065 M 20 1 0 AUNIP nsv4047155 1 26185000 26191000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966145 M 10847 1 0 AUNIP,PAQR7 nsv6325254 1 26191534 26191756 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060553 M 19652 0 1 PAQR7 nsv4040864 1 26191535 26191756 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848912 M 10847 0 1 PAQR7 nsv5429444 1 26191535 26191756 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902421 M 3202 0 1 PAQR7 nsv6258082 1 26198047 26198047 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17842616 M 1021 1 0 "" nsv4043099 1 26204324 26204862 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848913 M 10847 0 1 "" nsv6329387 1 26206422 26207222 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060554 M 19652 0 1 "" nsv4037938 1 26208478 26209293 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848914 M 10847 0 1 "" esv3664300 1 26209684 26209684 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487074 M 20 1 0 "" nsv6335540 1 26210599 26211113 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060555 M 19652 0 1 STMN1 nsv4033487 1 26210957 26223528 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848915 M 10847 0 1 STMN1 nsv945838 1 26213812 26218468 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766681,nssv1766696,nssv1764380,nssv1766680,nssv1766683,nssv1764377,nssv1766690,nssv1766711,nssv1766689,nssv1766702,nssv1766682,nssv1766704,nssv1764350,nssv1764372,nssv1764364,nssv1766708,nssv1764367,nssv1764381,nssv1764345,nssv1766697,nssv1764352,nssv1766709,nssv1764342,nssv1764378,nssv1764387,nssv1766695,nssv1764370,nssv1766705,nssv1764347,nssv1764376,nssv1764357,nssv1766701,nssv1764346,nssv1766693,nssv1764349,nssv1764332,nssv1764351,nssv1766713,nssv1764339,nssv1766694,nssv1764358,nssv1764374,nssv1764386,nssv1764373,nssv1764369,nssv1766691,nssv1764391,nssv1766684,nssv1764344,nssv1766715,nssv1764359,nssv1766714,nssv1764335,nssv1766710,nssv1764356,nssv1766698,nssv1764368,nssv1766692,nssv1764340,nssv1764379,nssv1764355,nssv1766686,nssv1764348,nssv1766687,nssv1764365,nssv1766712,nssv1764361,nssv1766685,nssv1764389,nssv1766688,nssv1764363,nssv1766700,nssv1764353,nssv1764331,nssv1764390,nssv1766706,nssv1764341,nssv1766699,nssv1764338,nssv1766703,nssv1764360,nssv1764375,nssv1764382,nssv1766707,nssv1764371,nssv1764384,nssv1764343,nssv1764333,nssv1764336,nssv1764337,nssv1764362,nssv1764366,nssv1764334,nssv1764385,nssv1764383,nssv1764354,nssv1764388 M 97 10 0 STMN1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6319349 1 26223578 26226681 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060556 M 19652 0 1 STMN1 nsv3520470 1 26228585 26228585 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384464 M 9 1 0 STMN1 NA19240 nsv5546758 1 26228585 26228585 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902422 M 3202 1 0 STMN1 nsv5617490 1 26228585 26228585 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064292 M 35 1 0 STMN1 NA19238 nsv5960426 1 26228585 26228585 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360505 M 914 1 0 STMN1 nsv4535968 1 26228585 26228586 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030631 M 10847 1 0 STMN1 nsv3561814 1 26228598 26228598 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355360,nssv14355359 M 9 2 0 STMN1 NA19238,NA19240 nsv5684215 1 26228598 26228598 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205716,nssv17189166 M 3202 2 0 STMN1 nsv6258093 1 26228817 26228817 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17842660 M 1021 1 0 STMN1 nsv4533102 1 26229881 26229882 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030640 M 10847 1 0 STMN1 nsv5983478 1 26236187 26236322 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518781 M 405 0 1 "" nsv6322743 1 26236223 26247054 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060557 M 19652 0 1 "" nsv6537687 1 26236368 26236888 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251569 M 19652 0 0 "" nsv4042089 1 26237082 26238367 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848916 M 10847 0 1 "" nsv6334493 1 26245950 26277567 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060558 M 19652 0 1 "" nsv834513 1 26249471 26413876 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444296 M 95 1 0 EXTL1,PAFAH2,SLC30A2,TRIM63 nsv5687405 1 26259129 26259129 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205717,nssv17189284 M 3202 2 0 "" nsv5400532 1 26259129 26259180 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902425 M 3202 1 0 "" nsv5983479 1 26261773 26261847 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529729 M 405 0 1 "" dgv134n223 1 26263924 26264788 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6542214,nsv6539932 M 19652 0 0 "" nsv1133824 1 26265580 26265630 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970520,nssv3995116 M 2 0 2 "" KWS1,KWS2 nsv5575532 1 26268407 26269099 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064296 M 35 0 1 "" NA19238 nsv5878221 1 26268407 26269099 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361958 M 914 0 1 "" esv2664402 1 26268407 26269100 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6321765,essv5577635,essv6017624,essv6179240,essv5897977,essv5889028,essv5958621,essv6201025,essv6285818,essv5711041,essv5878810,essv6228959,essv6073791,essv6570918,essv5900309,essv5411285 M 1151 0 16 "" NA18486,NA18504,NA18505,NA18856,NA19138,NA19152,NA19204,NA19238,NA19240,NA19381,NA19382,NA19399,NA19834,NA19909,NA19917,NA20348 nsv3524845 1 26268407 26269100 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355393,nssv14355394 M 9 0 2 "" NA19238,NA19240 nsv6334390 1 26268407 26269100 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060559 M 19652 0 1 "" nsv3323226 1 26268408 26269100 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491057 M 14 0 1 "" NA19240 nsv3245418 1 26268408 26269101 CNV mobile element deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380539 M 9 0 1 "" NA19240 nsv4043192 1 26268411 26269100 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848917 M 10847 0 1 "" nsv5429596 1 26268411 26269100 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902426 M 3202 0 1 "" esv3585535 1 26268411 26269112 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893335,essv9893363,essv9893334,essv9893373,essv9893329,essv9893345,essv9893372,essv9893328,essv9893332,essv9893369,essv9893330,essv9893352,essv9893367,essv9893341,essv9893370,essv9893350,essv9893365,essv9893338,essv9893371,essv9893342,essv9893368,essv9893343,essv9893364,essv9893355,essv9893366,essv9893337,essv9893374,essv9893331,essv9893375,essv9893360,essv9893380,essv9893339,essv9893376,essv9893347,essv9893377,essv9893357,essv9893378,essv9893356,essv9893379,essv9893353,essv9893333,essv9893362,essv9893354,essv9893361,essv9893336,essv9893348,essv9893346,essv9893359,essv9893340,essv9893358,essv9893349,essv9893351,essv9893344 M 2504 0 53 "" HG02256,HG02314,HG02343,HG02485,HG02489,HG02561,HG02571,HG02595,HG02621,HG02628,HG02634,HG02666,HG02702,HG02808,HG02813,HG02814,HG02820,HG02837,HG02854,HG02861,HG02977,HG02983,HG03046,HG03064,HG03100,HG03111,HG03120,HG03168,HG03198,HG03225,HG03352,HG03394,HG03410,HG03445,HG03464,HG03572,NA18504,NA18505,NA18856,NA18878,NA18915,NA18923,NA19138,NA19152,NA19204,NA19238,NA19399,NA19834,NA19909,NA19917,NA20299,NA20348,NA20362 nsv6537209 1 26270740 26272085 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251572 M 19652 0 0 "" nsv6319552 1 26271147 26277426 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060560 M 19652 0 1 "" nsv4040868 1 26272121 26273490 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848918 M 10847 0 1 "" nsv6319784 1 26272150 26274925 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060561 M 19652 0 1 "" nsv5417501 1 26273600 26273663 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902427 M 3202 0 1 "" esv2671144 1 26274083 26274411 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6466004,essv6500308,essv6009263,essv6419842,essv5802954,essv6014836,essv5626186,essv5676336,essv5713581,essv6052305,essv6323824,essv5574179,essv5750407,essv6020522,essv6303005,essv5861714,essv6077443,essv5872269,essv5433387,essv5706561,essv5625271 M 1151 0 21 "" NA11892,NA11893,NA12286,NA12546,NA12748,NA12829,NA12842,NA19256,NA20513,NA20514,NA20759,NA20761,NA20769,NA20790,NA20795,NA20802,NA20806,NA20812,NA20816,NA20818,NA20819 nsv1133825 1 26274880 26274938 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970149 M 2 0 1 "" KWS2 nsv472827 1 26277755 26277755 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013002 M 9 1 0 "" NA18555 nsv4049117 1 26283229 26293091 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848919 M 10847 0 1 PAFAH2 nsv4558152 1 26296658 26296991 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789145 M 10847 0 0 PAFAH2 nsv6547693 1 26296899 26297341 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251573 M 19652 0 0 PAFAH2 nsv1160537 1 26297033 26318832 CNV duplication Lou_et_al_2015 26073780 Sequencing,SNP array nssv4026379 M 369 1 0 PAFAH2 nsv1113092 1 26297136 26297192 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967985 M 2 0 1 PAFAH2 KWS2 nsv4033547 1 26306940 26307033 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848920 M 10847 0 1 PAFAH2 nsv7501 1 26313473 26346914 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4016 M 9 1 0 PAFAH2 NA12878 nsv6328988 1 26316140 26317754 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202847 M 19652 1 0 PAFAH2 nsv6322359 1 26318100 26335625 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060563 M 19652 0 1 PAFAH2 nsv4043056 1 26325731 26325818 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966146 M 10847 1 0 "" nsv5417815 1 26325731 26325818 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902428 M 3202 1 0 "" nsv4044565 1 26327791 26334742 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848921 M 10847 0 1 "" nsv6334541 1 26327791 26334742 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060564 M 19652 0 1 "" nsv5874408 1 26334603 26334869 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351662 M 914 0 1 "" nsv6316302 1 26336209 26348393 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060565 M 19652 0 1 EXTL1 nsv4036879 1 26336210 26348393 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848922 M 10847 0 1 EXTL1 esv3667728 1 26338508 26338562 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490160 M 20 0 0 "" nsv3201331 1 26343228 26347658 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14355451,nssv14355452,nssv14355447,nssv14355445,nssv14355449,nssv14355446,nssv14355448,nssv14355444,nssv14355450 M 9 9 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5885754 1 26343666 26343774 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363200 M 914 0 1 "" nsv4040507 1 26343666 26343775 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848923 M 10847 0 1 "" nsv5420516 1 26343666 26343775 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902432 M 3202 0 1 "" nsv5829806 1 26346724 26348923 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466010 M 914 0 0 EXTL1 nsv950338 1 26358101 26374400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997102 M 1 0 1 EXTL1,SLC30A2 BILGI_BIOE nsv4048317 1 26363545 26370163 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848925 M 10847 0 1 SLC30A2 nsv508678 1 26377557 26432627 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv622761 M 4 0 1 TRIM63 NA18994 nsv4047596 1 26386337 26386423 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966147 M 10847 1 0 TRIM63 nsv6543854 1 26388979 26394432 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251574 M 19652 0 0 TRIM63 nsv4537612 1 26389449 26389450 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030651 M 10847 1 0 TRIM63 nsv6320492 1 26393660 26396759 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060566 M 19652 0 1 TRIM63 nsv6258105 1 26398582 26398582 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17842661 M 1021 1 0 "" nsv478347 1 26402791 26402791 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012956 M 9 1 0 "" NA18507 nsv4318744 1 26413678 26414134 OTHER inversion gnomAD_Structural_Variants 32461652 Sequencing nssv16090169 M 10847 0 0 "" nsv6542765 1 26415409 26415985 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251575 M 19652 0 0 "" nsv6321088 1 26423820 26430244 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18202848 M 19652 1 0 "" nsv4046731 1 26423820 26430252 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966148 M 10847 1 0 "" nsv4045496 1 26430832 26430948 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966149 M 10847 1 0 "" nsv5432026 1 26430832 26430948 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902435 M 3202 1 0 "" nsv4536672 1 26431073 26431074 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030662 M 10847 1 0 "" nsv6536771 1 26432172 26432370 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251576 M 19652 0 0 "" nsv3114232 1 26436224 26439308 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14098193 M 467 0 1 PDIK1L sample357 nsv6546073 1 26442843 26443390 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251577 M 19652 0 0 PDIK1L nsv4534319 1 26448199 26448200 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030672 M 10847 1 0 PDIK1L nsv950339 1 26448401 26454200 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997103 M 1 1 0 PDIK1L BILGI_BIOE nsv511129 1 26450101 26467994 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626365 M 1 0 1 PDIK1L 1 nsv819393 1 26450295 26450997 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419064 M 2 0 1 PDIK1L AK1 nsv3209810 1 26451034 26471729 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14256390,nssv14256388,nssv14256389 M 9 0 3 PDIK1L HG00731,NA19238,NA19240 nsv5878927 1 26452417 26454751 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366843 M 914 0 1 "" nsv5829663 1 26452427 26454826 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460321 M 914 0 0 "" nsv945839 1 26453251 26456132 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765343,nssv1765373,nssv1764406,nssv1765390,nssv1764411,nssv1765389,nssv1765342,nssv1765354,nssv1764403,nssv1765410,nssv1764408,nssv1765379,nssv1765349,nssv1765403,nssv1765350,nssv1765407,nssv1765345,nssv1765376,nssv1765402,nssv1765362,nssv1765393,nssv1765377,nssv1765353,nssv1765406,nssv1764412,nssv1765358,nssv1764407,nssv1765411,nssv1764399,nssv1765374,nssv1764415,nssv1765384,nssv1765395,nssv1765405,nssv1765396,nssv1765360,nssv1765344,nssv1765381,nssv1764400,nssv1765388,nssv1765347,nssv1765368,nssv1765351,nssv1765375,nssv1765397,nssv1765412,nssv1765352,nssv1765371,nssv1764405,nssv1765363,nssv1765341,nssv1765404,nssv1765346,nssv1765359,nssv1765400,nssv1765385,nssv1765398,nssv1765355,nssv1764404,nssv1765364,nssv1764414,nssv1765372,nssv1764398,nssv1765356,nssv1765348,nssv1765366,nssv1764396,nssv1765409,nssv1765394,nssv1765408,nssv1764409,nssv1765386,nssv1764392,nssv1765382,nssv1764413,nssv1765391,nssv1765340,nssv1765392,nssv1764410,nssv1765380,nssv1765399,nssv1765383,nssv1764397,nssv1765378,nssv1764395,nssv1765367,nssv1764393,nssv1765387,nssv1764401,nssv1765365,nssv1764394,nssv1765357,nssv1765401,nssv1765370,nssv1764402,nssv1765369,nssv1765361 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv7512 1 26454424 26483333 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv983,nssv6471 M 9 0 2 "" NA12156,NA19240 nsv822176 1 26456140 26464455 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1437934,nssv1434164,nssv1423951,nssv1437563 M 31 4 0 "" NA18547,NA18570,NA18582,NA18951 dgv214n54 1 26456587 26464255 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545886,nsv545884,nsv545885 M 17421 0 8 "" nsv6333042 1 26459092 26464791 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060567 M 19652 0 1 "" nsv511685 1 26459315 26464924 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626324 M 1 0 1 "" 1 dgv2e215 1 26459501 26465500 CNV deletion Boomsma_et_al_2014 23714750 Sequencing esv3559804,esv3559793 M 767 0 2 "" esv23014 1 26459570 26464632 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv20260 M 40 23 0 "" NA06985,NA07037,NA07045,NA11931,NA11993,NA12004,NA12006,NA12239,NA12489,NA12749,NA12878,NA15510,NA18502,NA18517,NA18523,NA18858,NA18861,NA18916,NA19099,NA19114,NA19129,NA19190,NA19257 dgv33e199 1 26459745 26464769 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2675387,esv2660377,esv2670836 M 1151 0 228 "" HG00106,HG00108,HG00122,HG00140,HG00141,HG00150,HG00154,HG00158,HG00160,HG00177,HG00178,HG00181,HG00188,HG00189,HG00190,HG00242,HG00243,HG00260,HG00262,HG00263,HG00269,HG00275,HG00276,HG00309,HG00310,HG00318,HG00320,HG00323,HG00325,HG00326,HG00328,HG00330,HG00334,HG00338,HG00346,HG00353,HG00361,HG00377,HG00553,HG00638,HG00641,HG00731,HG00737,HG01048,HG01060,HG01067,HG01069,HG01070,HG01083,HG01095,HG01107,HG01112,HG01124,HG01173,HG01183,HG01190,HG01197,HG01198,HG01204,HG01250,HG01353,HG01384,HG01390,HG01461,HG01462,HG01488,HG01491,HG01492,NA06984,NA07000,NA07357,NA10851,NA11830,NA11831,NA11893,NA11894,NA12043,NA12045,NA12144,NA12154,NA12156,NA12249,NA12287,NA12341,NA12348,NA12399,NA12400,NA12546,NA12775,NA12813,NA12828,NA12842,NA12889,NA18487,NA18499,NA18505,NA18508,NA18510,NA18511,NA18532,NA18552,NA18636,NA18637,NA18868,NA18874,NA18907,NA18909,NA18910,NA18912,NA18923,NA18924,NA19093,NA19098,NA19102,NA19107,NA19108,NA19116,NA19119,NA19131,NA19137,NA19147,NA19171,NA19197,NA19198,NA19200,NA19207,NA19209,NA19223,NA19225,NA19235,NA19238,NA19256,NA19312,NA19313,NA19315,NA19321,NA19324,NA19331,NA19350,NA19355,NA19359,NA19376,NA19379,NA19383,NA19390,NA19393,NA19394,NA19396,NA19397,NA19399,NA19401,NA19403,NA19428,NA19429,NA19431,NA19434,NA19435,NA19438,NA19439,NA19443,NA19444,NA19445,NA19446,NA19449,NA19453,NA19456,NA19457,NA19461,NA19466,NA19467,NA19468,NA19472,NA19654,NA19660,NA19664,NA19679,NA19711,NA19713,NA19725,NA19914,NA19917,NA19921,NA19985,NA20289,NA20296,NA20317,NA20340,NA20344,NA20348,NA20502,NA20504,NA20509,NA20510,NA20512,NA20513,NA20514,NA20515,NA20516,NA20522,NA20524,NA20525,NA20527,NA20532,NA20533,NA20535,NA20541,NA20544,NA20581,NA20588,NA20754,NA20755,NA20758,NA20760,NA20766,NA20771,NA20772,NA20774,NA20775,NA20787,NA20795,NA20798,NA20800,NA20802,NA20804,NA20806,NA20811,NA20816,NA20828 nsv4532948 1 26459787 26459788 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030680 M 10847 1 0 "" nsv5419905 1 26459814 26464769 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902436 M 3202 0 1 "" nsv5829664 1 26460094 26464818 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465899 M 914 0 0 "" nsv5580408 1 26460095 26464768 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064298 M 35 0 1 "" HG00731 nsv5884135 1 26460095 26464768 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352123 M 914 0 1 "" esv3585536 1 26460095 26464769 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893681,essv9893596,essv9893730,essv9893638,essv9893722,essv9893610,essv9893725,essv9893619,essv9893689,essv9893673,essv9893708,essv9893605,essv9893699,essv9893620,essv9893691,essv9893623,essv9893676,essv9893621,essv9893677,essv9893661,essv9893684,essv9893634,essv9893713,essv9893569,essv9893693,essv9893645,essv9893735,essv9893636,essv9893688,essv9893608,essv9893686,essv9893615,essv9893714,essv9893604,essv9893724,essv9893588,essv9893692,essv9893607,essv9893726,essv9893595,essv9893711,essv9893625,essv9893715,essv9893641,essv9893720,essv9893644,essv9893729,essv9893587,essv9893680,essv9893642,essv9893705,essv9893594,essv9893706,essv9893670,essv9893704,essv9893626,essv9893731,essv9893656,essv9893694,essv9893668,essv9893696,essv9893669,essv9893723,essv9893602,essv9893687,essv9893622,essv9893701,essv9893648,essv9893737,essv9893667,essv9893717,essv9893583,essv9893690,essv9893578,essv9893712,essv9893637,essv9893685,essv9893632,essv9893698,essv9893674,essv9893716,essv9893640,essv9893739,essv9893597,essv9893733,essv9893612,essv9893702,essv9893565,essv9893679,essv9893576,essv9893678,essv9893665,essv9893721,essv9893592,essv9893732,essv9893614,essv9893736,essv9893586,essv9893707,essv9893675,essv9893695,essv9893570,essv9893703,essv9893580,essv9893710,essv9893579,essv9893682,essv9893600,essv9893719,essv9893657,essv9893683,essv9893590,essv9893727,essv9893631,essv9893700,essv9893571,essv9893728,essv9893639,essv9893734,essv9893624,essv9893740,essv9893589,essv9893709,essv9893654,essv9893718,essv9893650,essv9893697,essv9893584,essv9893738,essv9893585,essv9893900,essv9893537,essv9893567,essv9893838,essv9893509,essv9893572,essv9893907,essv9893526,essv9893635,essv9893870,essv9893548,essv9893660,essv9893836,essv9893534,essv9893601,essv9893834,essv9893536,essv9893613,essv9893841,essv9893544,essv9893652,essv9893861,essv9893562,essv9893611,essv9893839,essv9893543,essv9893593,essv9893832,essv9893535,essv9893575,essv9893889,essv9893547,essv9893672,essv9893885,essv9893549,essv9893655,essv9893865,essv9893512,essv9893573,essv9893826,essv9893563,essv9893627,essv9893856,essv9893527,essv9893564,essv9893847,essv9893515,essv9893666,essv9893908,essv9893551,essv9893646,essv9893902,essv9893533,essv9893582,essv9893868,essv9893513,essv9893649,essv9893905,essv9893528,essv9893659,essv9893867,essv9893550,essv9893599,essv9893827,essv9893538,essv9893617,essv9893896,essv9893531,essv9893643,essv9893882,essv9893529,essv9893609,essv9893872,essv9893519,essv9893662,essv9893904,essv9893558,essv9893629,essv9893822,essv9893517,essv9893577,essv9893877,essv9893553,essv9893616,essv9893875,essv9893539,essv9893663,essv9893887,essv9893555,essv9893591,essv9893883,essv9893524,essv9893581,essv9893819,essv9893554,essv9893568,essv9893846,essv9893546,essv9893606,essv9893823,essv9893522,essv9893566,essv9893855,essv9893510,essv9893664,essv9893906,essv9893545,essv9893598,essv9893824,essv9893559,essv9893651,essv9893917,essv9893521,essv9893618,essv9893895,essv9893556,essv9893574,essv9893881,essv9893516,essv9893603,essv9893817,essv9893542,essv9893630,essv9893825,essv9893530,essv9893671,essv9893890,essv9893514,essv9893628,essv9893891,essv9893523,essv9893658,essv9893840,essv9893557,essv9893653,essv9893857,essv9893525,essv9893633,essv9893866,essv9893561,essv9893647,essv9893880,essv9893518,essv9893918,essv9893552,essv9893858,essv9893540,essv9893913,essv9893560,essv9893863,essv9893520,essv9893879,essv9893511,essv9893852,essv9893532,essv9893815,essv9893541,essv9893893,essv9893750,essv9893899,essv9893773,essv9893829,essv9893774,essv9893835,essv9893772,essv9893897,essv9893783,essv9893884,essv9893800,essv9893910,essv9893775,essv9893878,essv9893801,essv9893851,essv9893757,essv9893892,essv9893798,essv9893848,essv9893810,essv9893903,essv9893796,essv9893915,essv9893760,essv9893898,essv9893809,essv9893874,essv9893762,essv9893876,essv9893764,essv9893820,essv9893785,essv9893916,essv9893797,essv9893901,essv9893776,essv9893816,essv9893813,essv9893850,essv9893770,essv9893844,essv9893804,essv9893859,essv9893795,essv9893837,essv9893803,essv9893886,essv9893771,essv9893842,essv9893805,essv9893869,essv9893791,essv9893849,essv9893790,essv9893909,essv9893784,essv9893873,essv9893751,essv9893845,essv9893792,essv9893894,essv9893811,essv9893911,essv9893743,essv9893833,essv9893793,essv9893871,essv9893812,essv9893830,essv9893788,essv9893914,essv9893799,essv9893854,essv9893761,essv9893912,essv9893756,essv9893864,essv9893758,essv9893821,essv9893746,essv9893853,essv9893807,essv9893888,essv9893806,essv9893862,essv9893755,essv9893843,essv9893780,essv9893831,essv9893759,essv9893828,essv9893765,essv9893818,essv9893781,essv9893860,essv9893749,essv9893388,essv9893814,essv9893426,essv9893747,essv9893421,essv9893786,essv9893389,essv9893754,essv9893390,essv9893744,essv9893427,essv9893767,essv9893391,essv9893742,essv9893422,essv9893794,essv9893392,essv9893779,essv9893430,essv9893778,essv9893393,essv9893808,essv9893394,essv9893741,essv9893420,essv9893777,essv9893425,essv9893752,essv9893395,essv9893782,essv9893423,essv9893745,essv9893424,essv9893787,essv9893396,essv9893763,essv9893397,essv9893753,essv9893398,essv9893769,essv9893431,essv9893748,essv9893399,essv9893768,essv9893400,essv9893802,essv9893401,essv9893789,essv9893381,essv9893766,essv9893402,essv9893448,essv9893403,essv9893484,essv9893382,essv9893470,essv9893404,essv9893467,essv9893405,essv9893502,essv9893383,essv9893493,essv9893433,essv9893455,essv9893384,essv9893439,essv9893429,essv9893496,essv9893406,essv9893506,essv9893407,essv9893457,essv9893408,essv9893452,essv9893385,essv9893449,essv9893409,essv9893456,essv9893386,essv9893464,essv9893410,essv9893451,essv9893411,essv9893437,essv9893428,essv9893476,essv9893387,essv9893453,essv9893432,essv9893487,essv9893412,essv9893500,essv9893434,essv9893501,essv9893413,essv9893436,essv9893414,essv9893490,essv9893415,essv9893435,essv9893416,essv9893494,essv9893417,essv9893489,essv9893418,essv9893466,essv9893419,essv9893441,essv9893444,essv9893498,essv9893499,essv9893479,essv9893482,essv9893488,essv9893478,essv9893450,essv9893497,essv9893507,essv9893481,essv9893445,essv9893480,essv9893505,essv9893491,essv9893486,essv9893508,essv9893459,essv9893503,essv9893475,essv9893458,essv9893468,essv9893472,essv9893495,essv9893474,essv9893471,essv9893442,essv9893463,essv9893440,essv9893438,essv9893443,essv9893477,essv9893447,essv9893462,essv9893473,essv9893504,essv9893460,essv9893469,essv9893492,essv9893454,essv9893485,essv9893446,essv9893465,essv9893461,essv9893483 M 2504 0 538 "" HG00097,HG00102,HG00106,HG00108,HG00115,HG00118,HG00122,HG00138,HG00140,HG00141,HG00148,HG00150,HG00154,HG00158,HG00160,HG00177,HG00178,HG00181,HG00188,HG00189,HG00190,HG00233,HG00235,HG00242,HG00243,HG00260,HG00262,HG00263,HG00269,HG00275,HG00276,HG00304,HG00309,HG00310,HG00318,HG00320,HG00323,HG00325,HG00326,HG00328,HG00330,HG00332,HG00334,HG00338,HG00341,HG00346,HG00353,HG00356,HG00360,HG00361,HG00364,HG00376,HG00378,HG00384,HG00530,HG00553,HG00631,HG00634,HG00638,HG00641,HG00731,HG00737,HG00742,HG00743,HG01048,HG01049,HG01060,HG01064,HG01067,HG01069,HG01070,HG01077,HG01083,HG01094,HG01095,HG01105,HG01107,HG01112,HG01122,HG01124,HG01173,HG01177,HG01183,HG01190,HG01197,HG01198,HG01204,HG01250,HG01251,HG01254,HG01257,HG01260,HG01269,HG01275,HG01286,HG01303,HG01353,HG01372,HG01384,HG01390,HG01413,HG01438,HG01447,HG01461,HG01462,HG01479,HG01488,HG01491,HG01492,HG01494,HG01506,HG01522,HG01527,HG01528,HG01531,HG01536,HG01537,HG01566,HG01577,HG01589,HG01593,HG01602,HG01610,HG01615,HG01617,HG01619,HG01630,HG01632,HG01676,HG01679,HG01682,HG01684,HG01686,HG01694,HG01704,HG01705,HG01707,HG01761,HG01762,HG01765,HG01767,HG01770,HG01781,HG01790,HG01795,HG01880,HG01886,HG01894,HG01912,HG01914,HG01951,HG01956,HG01988,HG01990,HG02006,HG02012,HG02014,HG02016,HG02031,HG02050,HG02054,HG02090,HG02095,HG02107,HG02108,HG02111,HG02221,HG02224,HG02230,HG02231,HG02233,HG02315,HG02317,HG02318,HG02330,HG02334,HG02339,HG02343,HG02433,HG02449,HG02455,HG02471,HG02477,HG02490,HG02493,HG02497,HG02508,HG02537,HG02546,HG02554,HG02557,HG02570,HG02574,HG02582,HG02597,HG02603,HG02621,HG02623,HG02628,HG02634,HG02642,HG02645,HG02648,HG02651,HG02655,HG02658,HG02666,HG02678,HG02715,HG02716,HG02736,HG02759,HG02763,HG02768,HG02775,HG02783,HG02784,HG02790,HG02792,HG02793,HG02799,HG02819,HG02820,HG02836,HG02861,HG02878,HG02888,HG02895,HG02943,HG02944,HG02946,HG02947,HG02953,HG02968,HG02970,HG02973,HG02976,HG02982,HG03012,HG03018,HG03021,HG03022,HG03024,HG03027,HG03045,HG03046,HG03048,HG03049,HG03052,HG03055,HG03057,HG03061,HG03063,HG03091,HG03096,HG03105,HG03109,HG03112,HG03114,HG03117,HG03118,HG03121,HG03127,HG03132,HG03133,HG03157,HG03169,HG03172,HG03190,HG03212,HG03225,HG03235,HG03246,HG03258,HG03271,HG03294,HG03300,HG03301,HG03311,HG03343,HG03351,HG03354,HG03370,HG03378,HG03380,HG03385,HG03401,HG03410,HG03419,HG03436,HG03442,HG03461,HG03464,HG03476,HG03478,HG03511,HG03518,HG03520,HG03539,HG03547,HG03559,HG03563,HG03571,HG03578,HG03598,HG03629,HG03631,HG03672,HG03687,HG03692,HG03702,HG03711,HG03713,HG03727,HG03740,HG03793,HG03870,HG03874,HG03875,HG03890,HG03931,HG03986,HG03991,HG03995,HG04006,HG04020,HG04026,HG04063,HG04075,HG04099,HG04186,HG04206,HG04235,NA06984,NA07000,NA07357,NA10851,NA11829,NA11830,NA11831,NA11832,NA11893,NA11894,NA11933,NA12043,NA12045,NA12144,NA12154,NA12156,NA12234,NA12249,NA12287,NA12341,NA12348,NA12383,NA12399,NA12400,NA12414,NA12546,NA12717,NA12760,NA12762,NA12775,NA12813,NA12815,NA12828,NA12842,NA12872,NA12889,NA18488,NA18499,NA18505,NA18508,NA18510,NA18511,NA18532,NA18541,NA18542,NA18552,NA18563,NA18636,NA18637,NA18645,NA18748,NA18865,NA18868,NA18874,NA18907,NA18909,NA18910,NA18912,NA18923,NA18924,NA19024,NA19027,NA19028,NA19037,NA19041,NA19093,NA19095,NA19098,NA19102,NA19107,NA19108,NA19113,NA19116,NA19119,NA19121,NA19131,NA19137,NA19147,NA19171,NA19185,NA19197,NA19198,NA19200,NA19207,NA19209,NA19223,NA19225,NA19235,NA19238,NA19256,NA19308,NA19310,NA19312,NA19314,NA19315,NA19321,NA19323,NA19324,NA19331,NA19350,NA19355,NA19376,NA19379,NA19383,NA19390,NA19393,NA19394,NA19397,NA19399,NA19401,NA19403,NA19428,NA19429,NA19431,NA19434,NA19435,NA19438,NA19439,NA19445,NA19446,NA19449,NA19456,NA19457,NA19461,NA19466,NA19467,NA19468,NA19472,NA19654,NA19664,NA19669,NA19679,NA19711,NA19713,NA19725,NA19734,NA19752,NA19774,NA19792,NA19913,NA19914,NA19921,NA19984,NA20289,NA20296,NA20298,NA20317,NA20318,NA20339,NA20340,NA20348,NA20351,NA20359,NA20362,NA20502,NA20504,NA20509,NA20510,NA20512,NA20513,NA20515,NA20516,NA20522,NA20524,NA20525,NA20527,NA20532,NA20533,NA20535,NA20541,NA20544,NA20581,NA20588,NA20754,NA20755,NA20758,NA20760,NA20762,NA20764,NA20766,NA20771,NA20772,NA20774,NA20775,NA20787,NA20795,NA20798,NA20800,NA20802,NA20804,NA20806,NA20808,NA20811,NA20827,NA20828,NA20832,NA20875,NA20889,NA20890,NA20899,NA20904,NA20905,NA21097,NA21119,NA21120 nsv498668 1 26460095 26464807 CNV loss Kidd_et_al_2010b 21111241 Sequencing nssv585448 M 9 0 1 "" nsv3323427 1 26460097 26464770 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478440,nssv14480510 M 14 0 2 "" NA19240,NA19434 nsv3180395 1 26460100 26464774 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379892 M 9 0 1 "" NA19240 dgv65n106 1 26460100 26465000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1127599,nsv1117849 M 2 0 1 "" KWS1 nsv3201155 1 26460103 26464769 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356111,nssv14356113,nssv14356112 M 9 0 3 "" HG00731,NA19238,NA19240 nsv4739380 1 26460109 26464783 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16296600 M 25 0 1 "" nsv4047252 1 26460132 26464769 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848926 M 10847 0 1 "" nsv5983524 1 26460142 26464772 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527358 M 405 0 1 "" dgv215n54 1 26460452 26463393 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545887,nsv545893 M 17421 0 13 "" dgv216n54 1 26460452 26464505 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545895,nsv545894,nsv545898,nsv545892,nsv545891,nsv545888,nsv545890,nsv545896,nsv545897,nsv545889 M 17421 0 121 "" nsv821140 1 26460498 26465112 CNV deletion Ju_et_al_2010 20802225 Sequencing nssv1420292 M 1 0 1 "" NA10851 nsv822187 1 26460498 26465112 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1421447,nssv1436333,nssv1437220,nssv1428020,nssv1428821,nssv1431066,nssv1422365,nssv1431801,nssv1432052,nssv1425491,nssv1430338,nssv1423112,nssv1427250 M 31 0 13 "" AK10,AK12,AK16,AK18,AK20,AK4,AK8,NA18542,NA18552,NA18949,NA18972,NA18997,NA18999 nsv514923 1 26460557 26464161 CNV gain+loss Campbell_et_al_2011 21397061 Oligo aCGH nssv2857241,nssv2858032,nssv2857892,nssv2857237,nssv2858143,nssv2857944,nssv2857900,nssv2858181,nssv2857213,nssv2858051,nssv2857947,nssv2858138,nssv2858219,nssv2858111,nssv2858209,nssv2858190,nssv2857910,nssv2857185,nssv2858089,nssv2858144,nssv2858090,nssv2857955,nssv2858030,nssv2857925,nssv2857957,nssv2857219,nssv2857958,nssv2858087,nssv2857924,nssv2858035,nssv2857162,nssv2858034,nssv2858170,nssv2858249,nssv2858187,nssv2858129,nssv2857107,nssv2858100,nssv2857933,nssv2858226,nssv2857145,nssv2857170,nssv2858232,nssv2858260,nssv2858261,nssv2858237,nssv2858048,nssv2858108,nssv2857201,nssv2858157,nssv2858135,nssv2857176,nssv2857104,nssv2857896,nssv2857908,nssv2857890,nssv2858056,nssv2858243,nssv2858071,nssv2857150,nssv2858242,nssv2858241,nssv2858163,nssv2858068,nssv2858240,nssv2858206,nssv2857929,nssv2858095,nssv2858250,nssv2857106,nssv2858173,nssv2858146,nssv2857143,nssv2857939,nssv2857231,nssv2857931,nssv2857906,nssv2858043,nssv2858182,nssv2858216,nssv2857109,nssv2857233,nssv2857214,nssv2857124,nssv2858131,nssv2858152,nssv2858044,nssv2857950,nssv2857158,nssv2858151,nssv2857927,nssv2858155,nssv2857919,nssv2857235,nssv2857199,nssv2857188,nssv2857914,nssv2857175,nssv2858179,nssv2857901,nssv2858052,nssv2858070,nssv2858081,nssv2857893,nssv2857230,nssv2857232,nssv2858246,nssv2858079,nssv2858046,nssv2858132,nssv2857180,nssv2858086,nssv2857178,nssv2858251,nssv2858153,nssv2857960,nssv2858139,nssv2857100,nssv2857951,nssv2858104,nssv2857156,nssv2858066,nssv2857954,nssv2857144,nssv2857928,nssv2858254,nssv2858073,nssv2857154,nssv2857888,nssv2858227,nssv2858164,nssv2857228,nssv2857934,nssv2858039,nssv2857126,nssv2857138,nssv2858160,nssv2857183,nssv2857151,nssv2858169,nssv2858252,nssv2858221,nssv2857132,nssv2858175,nssv2857157,nssv2858198,nssv2858091,nssv2857911,nssv2857913,nssv2858148,nssv2858235,nssv2857117,nssv2858236,nssv2857196,nssv2858176,nssv2858122,nssv2857181,nssv2857936,nssv2857224,nssv2857964,nssv2857149,nssv2858172,nssv2857952,nssv2858084,nssv2857168,nssv2858225,nssv2858214,nssv2858147,nssv2858063,nssv2858041,nssv2858194,nssv2858059,nssv2857195,nssv2858125,nssv2857159,nssv2857921,nssv2858174,nssv2858119,nssv2858102,nssv2858077,nssv2857962,nssv2858200,nssv2857215,nssv2857225,nssv2857115,nssv2858222,nssv2858110,nssv2857942,nssv2858054,nssv2858098,nssv2857182,nssv2857940,nssv2858113,nssv2858075,nssv2857897,nssv2857163,nssv2857173,nssv2858188,nssv2857121,nssv2857206,nssv2857137,nssv2858161,nssv2858211,nssv2857948,nssv2857943,nssv2858165,nssv2857902,nssv2857192,nssv2858038,nssv2857909,nssv2858057,nssv2858140,nssv2858207,nssv2857930,nssv2858183,nssv2858097,nssv2857210,nssv2858065,nssv2857932,nssv2858234,nssv2858047,nssv2858067,nssv2858210,nssv2857937,nssv2858072,nssv2857118,nssv2858213,nssv2858105,nssv2858080,nssv2858154,nssv2858245,nssv2857949,nssv2858127,nssv2857946,nssv2857239,nssv2858112,nssv2857202,nssv2858191,nssv2857160,nssv2858257,nssv2857956,nssv2858115,nssv2857103,nssv2857240,nssv2858093,nssv2857120,nssv2858085,nssv2858096,nssv2858231,nssv2857243,nssv2857216,nssv2858133,nssv2857915,nssv2857917,nssv2858167,nssv2858109,nssv2857161,nssv2857247,nssv2857139,nssv2857248,nssv2857153,nssv2857894,nssv2858259,nssv2858141,nssv2857895,nssv2857221,nssv2858255,nssv2857187,nssv2857102,nssv2857114,nssv2857169,nssv2857953,nssv2858142,nssv2857889,nssv2857119,nssv2857963,nssv2857122,nssv2857246,nssv2857116,nssv2857945,nssv2857165,nssv2858042,nssv2858253,nssv2858212,nssv2857935,nssv2857134,nssv2857101,nssv2857135,nssv2858029,nssv2857886,nssv2857141,nssv2857148,nssv2857918,nssv2857194,nssv2857922,nssv2858050,nssv2858114,nssv2858103,nssv2857110,nssv2857191,nssv2858185,nssv2858128,nssv2858126,nssv2858088,nssv2857112,nssv2858121,nssv2857244,nssv2857133,nssv2857899,nssv2857223,nssv2858076,nssv2857226,nssv2858166,nssv2857127,nssv2857142,nssv2858258,nssv2858150,nssv2857912,nssv2857184,nssv2857907,nssv2858094,nssv2858247,nssv2857220,nssv2858092,nssv2857136,nssv2858031,nssv2857898,nssv2858156,nssv2857205,nssv2858201,nssv2858192,nssv2858205,nssv2858060,nssv2857113,nssv2858220,nssv2857146,nssv2857171,nssv2857111,nssv2857108,nssv2857166,nssv2858149,nssv2858033,nssv2857198,nssv2857887,nssv2858256,nssv2858101,nssv2858189,nssv2858145,nssv2858208,nssv2858124,nssv2857941,nssv2857177,nssv2857128,nssv2858202,nssv2857186,nssv2858055,nssv2858136,nssv2858117,nssv2857245,nssv2858106,nssv2857212,nssv2858177,nssv2857125,nssv2857217,nssv2857164,nssv2858078,nssv2858134,nssv2858195,nssv2858168,nssv2857129,nssv2857174,nssv2857218,nssv2858053,nssv2858217,nssv2858123,nssv2857204,nssv2857961,nssv2858074,nssv2857208,nssv2858218,nssv2857920,nssv2858224,nssv2857147,nssv2857209,nssv2857197,nssv2858137,nssv2857189,nssv2857131,nssv2858049,nssv2858058,nssv2858120,nssv2858244,nssv2858069,nssv2857140,nssv2858158,nssv2857905,nssv2857966,nssv2857207,nssv2858203,nssv2858239,nssv2858184,nssv2858196,nssv2857938,nssv2857916,nssv2858037,nssv2858061,nssv2857155,nssv2858082,nssv2858107,nssv2857227,nssv2858159,nssv2857891,nssv2857965,nssv2858040,nssv2857193,nssv2858199,nssv2858248,nssv2857200,nssv2858215,nssv2858238,nssv2858116,nssv2857242,nssv2858062,nssv2857211,nssv2857923,nssv2857238,nssv2858228,nssv2858064,nssv2858178,nssv2857234,nssv2857105,nssv2857130,nssv2858171,nssv2857123,nssv2858233,nssv2857172,nssv2857203,nssv2858230,nssv2858045,nssv2858118,nssv2857903,nssv2858083,nssv2857152,nssv2857229,nssv2858180,nssv2858186,nssv2857236,nssv2858193,nssv2858197,nssv2858130,nssv2858162,nssv2857179,nssv2858036,nssv2858204,nssv2857959,nssv2858223,nssv2857904,nssv2857167,nssv2857222,nssv2858099,nssv2857190,nssv2857885,nssv2858229,nssv2857926 M 2366 460 4 "" NA06984,NA06985,NA06986,NA06989,NA06991,NA06993,NA06994,NA06995,NA07000,NA07014,NA07019,NA07022,NA07031,NA07034,NA07037,NA07048,NA07051,NA07055,NA07056,NA07346,NA07347,NA07348,NA07349,NA07357,NA07435,NA10830,NA10831,NA10835,NA10836,NA10837,NA10838,NA10839,NA10840,NA10843,NA10845,NA10846,NA10847,NA10850,NA10852,NA10855,NA10857,NA10859,NA10860,NA10863,NA11829,NA11830,NA11831,NA11832,NA11839,NA11840,NA11843,NA11881,NA11882,NA11892,NA11893,NA11894,NA11917,NA11918,NA11919,NA11920,NA11930,NA11992,NA11993,NA11994,NA11995,NA12004,NA12005,NA12044,NA12045,NA12056,NA12058,NA12145,NA12146,NA12154,NA12155,NA12156,NA12236,NA12239,NA12248,NA12249,NA12264,NA12272,NA12273,NA12274,NA12275,NA12282,NA12283,NA12286,NA12287,NA12329,NA12335,NA12336,NA12340,NA12341,NA12343,NA12344,NA12347,NA12348,NA12375,NA12376,NA12383,NA12386,NA12399,NA12400,NA12414,NA12485,NA12489,NA12546,NA12708,NA12716,NA12717,NA12718,NA12740,NA12748,NA12749,NA12750,NA12751,NA12752,NA12753,NA12760,NA12761,NA12763,NA12766,NA12767,NA12775,NA12776,NA12777,NA12778,NA12801,NA12802,NA12812,NA12813,NA12814,NA12815,NA12817,NA12818,NA12827,NA12828,NA12829,NA12830,NA12832,NA12842,NA12843,NA12864,NA12872,NA12873,NA12874,NA12875,NA12877,NA12878,NA12890,NA12891,NA12892,NA18484,NA18485,NA18486,NA18488,NA18489,NA18498,NA18499,NA18500,NA18501,NA18503,NA18504,NA18506,NA18507,NA18508,NA18509,NA18510,NA18511,NA18516,NA18517,NA18518,NA18519,NA18522,NA18523,NA18524,NA18532,NA18537,NA18542,NA18545,NA18547,NA18550,NA18552,NA18555,NA18558,NA18562,NA18563,NA18564,NA18566,NA18570,NA18571,NA18572,NA18573,NA18576,NA18577,NA18579,NA18582,NA18592,NA18593,NA18594,NA18603,NA18605,NA18608,NA18609,NA18611,NA18612,NA18620,NA18621,NA18622,NA18624,NA18632,NA18633,NA18635,NA18636,NA18637,NA18852,NA18853,NA18854,NA18855,NA18856,NA18857,NA18859,NA18860,NA18861,NA18862,NA18863,NA18867,NA18869,NA18870,NA18871,NA18872,NA18873,NA18874,NA18875,NA18907,NA18908,NA18909,NA18910,NA18916,NA18917,NA18923,NA18924,NA18925,NA18930,NA18933,NA18934,NA18935,NA18940,NA18942,NA18945,NA18947,NA18948,NA18949,NA18952,NA18953,NA18956,NA18959,NA18960,NA18961,NA18964,NA18965,NA18966,NA18967,NA18968,NA18969,NA18970,NA18971,NA18972,NA18973,NA18974,NA18975,NA18978,NA18980,NA18981,NA18987,NA18990,NA18991,NA18992,NA18994,NA18995,NA18997,NA18998,NA18999,NA19000,NA19003,NA19005,NA19007,NA19012,NA19092,NA19093,NA19094,NA19095,NA19096,NA19097,NA19098,NA19099,NA19100,NA19101,NA19102,NA19103,NA19107,NA19108,NA19114,NA19115,NA19117,NA19118,NA19119,NA19121,NA19122,NA19123,NA19127,NA19128,NA19129,NA19130,NA19131,NA19132,NA19137,NA19138,NA19140,NA19141,NA19142,NA19143,NA19144,NA19145,NA19146,NA19147,NA19148,NA19149,NA19150,NA19151,NA19152,NA19153,NA19154,NA19159,NA19160,NA19161,NA19171,NA19172,NA19173,NA19174,NA19175,NA19177,NA19179,NA19180,NA19181,NA19182,NA19183,NA19184,NA19186,NA19189,NA19190,NA19191,NA19192,NA19193,NA19194,NA19197,NA19198,NA19199,NA19200,NA19201,NA19202,NA19204,NA19205,NA19206,NA19207,NA19208,NA19209,NA19210,NA19211,NA19214,NA19221,NA19222,NA19223,NA19225,NA19235,NA19236,NA19237,NA19239,NA19240,NA19247,NA19248,NA19249,NA19252,NA19256,NA19257,NA19258,NA21301,NA21302,NA21303,NA21307,NA21309,NA21312,NA21313,NA21316,NA21317,NA21344,NA21359,NA21360,NA21361,NA21362,NA21363,NA21365,NA21366,NA21381,NA21382,NA21383,NA21384,NA21386,NA21387,NA21388,NA21389,NA21390,NA21391,NA21399,NA21400,NA21401,NA21403,NA21404,NA21423,NA21425,NA21438,NA21439,NA21440,NA21441,NA21442,NA21447,NA21454,NA21475,NA21476,NA21477,NA21478,NA21479,NA21480,NA21485,NA21486,NA21487,NA21488,NA21489,NA21490,NA21493,NA21494,NA21512,NA21522,NA21523,NA21524,NA21526,NA21580,NA21581,NA21583,NA21599,NA21600,NA21601,NA21608,NA21614,NA21615,NA21634,NA21635,NA21636,NA21648,NA21686,NA21716,NA21717,NA21718 nsv6330645 1 26461192 26463691 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060568 M 19652 0 1 "" esv3664317 1 26461465 26461465 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487090 M 20 1 0 "" dgv217n54 1 26461522 26464505 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545902,nsv545901,nsv545899,nsv545900 M 17421 0 16 "" dgv218n54 1 26462579 26464255 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545905,nsv545904,nsv545903 M 17421 0 6 "" nsv545906 1 26463121 26464505 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712041 M 17421 0 1 "" nsv4046527 1 26463643 26474089 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848927 M 10847 0 1 "" esv2202284 1 26470998 26471411 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4736067 M 1 0 1 "" NA18507 nsv1002191 1 26475521 26545651 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464989 M 11257 1 0 CATSPER4,CNKSR1,FAM110D,ZNF593 esv3399845 1 26481298 26481307 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863685 M 185 1 0 "" NA12005 nsv6320588 1 26482577 26483009 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060569 M 19652 0 1 "" esv9535 1 26489617 26490383 CNV loss Ahn_et_al_2009 19470904 Sequencing essv31976 M 1 0 0 "" esv3559815 1 26489774 26490161 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758562 M 767 0 1 "" esv4795 1 26489777 26490342 CNV loss Wang_et_al_2008 18987735 Sequencing essv27236 M 1 0 1 "" YH esv2745663 1 26489809 26490144 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6883263,essv6871728,essv6885991,essv6802376,essv6880426,essv6744948,essv6892330,essv6773448,essv6889016,essv6703872,essv6895855,essv6906108,essv6877674,essv6682839,essv6910061,essv6902551,essv6916841,essv6710602,essv6785005,essv6859204,essv6832609,essv6921739,essv6669343,essv6729637,essv6793306,essv6780886,essv6789167,essv6829024,essv6686162,essv6804411,essv6813180,essv6868723,essv6843965,essv6725858,essv6668973,essv6941799,essv6699604,essv6679184,essv6707278,essv6692783,essv6696999,essv6816821,essv6718173,essv6766560,essv6764173,essv6824993,essv6836200,essv6954764,essv6722017,essv6972368,essv6810346,essv6807383,essv6801627,essv6714258,essv6847038,essv6961577,essv6843902,essv6937693,essv6853255,essv6756562,essv6759059,essv6816597,essv6950577,essv6675212,essv6933321,essv6863970,essv6689274 M 96 0 67 "" SSM002,SSM003,SSM005,SSM010,SSM011,SSM013,SSM014,SSM015,SSM018,SSM021,SSM022,SSM023,SSM025,SSM026,SSM027,SSM029,SSM031,SSM032,SSM033,SSM034,SSM035,SSM036,SSM037,SSM038,SSM039,SSM040,SSM041,SSM042,SSM043,SSM044,SSM045,SSM046,SSM047,SSM055,SSM059,SSM061,SSM063,SSM064,SSM066,SSM068,SSM069,SSM070,SSM071,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM080,SSM081,SSM082,SSM083,SSM085,SSM086,SSM087,SSM088,SSM089,SSM090,SSM091,SSM093,SSM094,SSM095,SSM096,SSM097,SSM098,SSM099 nsv5570053 1 26489812 26490137 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064299 M 35 0 1 "" HG00731 nsv5873316 1 26489812 26490137 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351517 M 914 0 1 "" nsv3949879 1 26489812 26490138 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181998 M 1 0 1 "" HG002 nsv4449158 1 26489812 26490138 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15766263 M 1 0 1 "" nsv5983612 1 26489812 26490138 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527584 M 405 0 1 "" nsv6327673 1 26489812 26490138 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060570 M 19652 0 1 "" esv3683022 1 26489812 26490139 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467797 M 20 0 1 "" dgv66n106 1 26489812 26490140 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1131544,nsv1122312 M 2 0 2 "" KWS1,KWS2 nsv160685 1 26489813 26490138 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179263 M 24 "" dgv155n152 1 26489813 26490139 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3173583,nsv3524091 M 9 0 5 "" HG00512,HG00514,HG00731,HG00732,NA19239 nsv3323725 1 26489814 26490139 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14482007,nssv14484841,nssv14488091,nssv14478310,nssv14491524,nssv14490772,nssv14472919,nssv14472701,nssv14486605 M 14 0 9 "" HG00268,HG00514,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19434 nsv6138102 1 26489816 26490138 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902437 M 3202 0 1 "" nsv4740009 1 26489817 26490144 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289950 M 25 0 1 "" nsv4046709 1 26489823 26490138 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848928 M 10847 0 1 "" esv1290851 1 26489823 26490149 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3833066 M 2 0 1 "" HuRef esv2852903 1 26489823 26490149 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7122470 M 1 0 1 "" HuRef nsv3048691 1 26489823 26490149 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14025645 M 2 0 1 "" NA12878 nsv954985 1 26489846 26490130 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000450 M 1 0 1 "" BILGI_BIOE nsv1152284 1 26489861 26490257 CNV deletion John_et_al_2014 26484159 Sequencing nssv3996888 M 1 0 1 "" KWB1 nsv6328069 1 26497768 26516036 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203466 M 19652 1 0 CNKSR1 nsv6544410 1 26498813 26499446 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251578 M 19652 0 0 "" nsv5983525 1 26501115 26501171 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533739 M 405 0 1 "" nsv6330911 1 26501144 26502814 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060571 M 19652 0 1 "" nsv4048134 1 26508000 26518000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966151 M 10847 1 0 CATSPER4,CNKSR1 nsv4046171 1 26509539 26509731 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848929 M 10847 0 1 CNKSR1 esv3577792 1 26511312 26524706 CNV loss Uddin_et_al_2014 25503493 SNP array essv9833533 M 873 0 1 CATSPER4,CNKSR1 401506LK nsv4046899 1 26511443 26511511 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848930 M 10847 0 1 CNKSR1 nsv5829807 1 26512644 26514154 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451137 M 914 0 0 CNKSR1 nsv5871638 1 26513005 26514152 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361122 M 914 0 1 CNKSR1 esv3577794 1 26516585 26524063 CNV loss Uddin_et_al_2014 25503493 SNP array essv9833644 M 873 0 1 CATSPER4 400583HS nsv6049330 1 26519554 26519554 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526295 M 405 1 0 CATSPER4 nsv6258116 1 26519569 26519569 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17842662 M 1021 1 0 CATSPER4 nsv5615169 1 26521481 26521481 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064300 M 35 1 0 CATSPER4 HG02587 esv3664336 1 26522635 26522635 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487106 M 20 1 0 CATSPER4 nsv5692690 1 26522652 26522652 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205718 M 3202 1 0 CATSPER4 nsv6258127 1 26522652 26522652 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17842704 M 1021 1 0 CATSPER4 nsv4536533 1 26523223 26523224 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031248 M 10847 1 0 CATSPER4 nsv5983480 1 26523406 26567749 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17534290 M 405 1 0 CATSPER4,CEP85 nsv5829808 1 26523631 26533466 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453422 M 914 0 0 CATSPER4 nsv5867988 1 26523655 26567992 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17367277 M 914 1 0 CATSPER4,CEP85 nsv4036555 1 26523655 26568022 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966152 M 10847 1 0 CATSPER4,CEP85 nsv5418585 1 26525526 26525693 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902439 M 3202 1 0 CATSPER4 nsv4045860 1 26525562 26525657 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848932 M 10847 0 1 CATSPER4 nsv6551570 1 26532009 26532670 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251579 M 19652 0 0 "" nsv4042671 1 26532841 26533240 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966153 M 10847 1 0 "" nsv3934799 1 26532972 26532972 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192757 M 1 1 0 "" HG002 nsv4444704 1 26532972 26532972 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757894 M 1 1 0 "" nsv5959988 1 26532972 26532972 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361412 M 914 1 0 "" nsv6054040 1 26532972 26532972 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517680 M 405 1 0 "" nsv4767100 1 26532980 26532980 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16269754 M 25 1 0 "" nsv3324120 1 26532986 26532986 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486027 M 14 1 0 "" HG00268 nsv5614036 1 26533002 26533002 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064301 M 35 1 0 "" HG00732 nsv4041062 1 26533253 26533691 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848933 M 10847 0 1 "" nsv5431954 1 26533253 26533691 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902442 M 3202 0 1 "" nsv1113093 1 26534184 26534254 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967987 M 2 0 1 "" KWS2 nsv6053518 1 26534268 26534268 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530786 M 405 1 0 "" nsv6327833 1 26535886 26540296 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203467 M 19652 1 0 "" nsv4041669 1 26535926 26540358 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966154 M 10847 1 0 "" nsv5875032 1 26536779 26536868 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351985 M 914 0 1 "" nsv5829929 1 26538190 26540021 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462207 M 914 0 0 "" nsv6550482 1 26540109 26540784 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251580 M 19652 0 0 "" nsv6540909 1 26540132 26541438 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251581 M 19652 0 0 "" nsv6324578 1 26543793 26548130 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060573 M 19652 0 1 "" nsv6551693 1 26544197 26544290 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251582 M 19652 0 0 "" nsv5983481 1 26548146 26550596 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17534039 M 405 1 0 "" nsv5414127 1 26548369 26550842 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902443 M 3202 1 0 "" nsv5432296 1 26548920 26548979 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902444 M 3202 0 1 "" nsv6552522 1 26552740 26553439 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251583 M 19652 0 0 "" nsv5568514 1 26566042 26566104 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064302 M 35 0 1 CEP85 NA19238 nsv5871903 1 26566042 26566104 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360878 M 914 0 1 CEP85 nsv3526589 1 26566042 26566105 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356176,nssv14356177 M 9 0 2 CEP85 NA19238,NA19239 nsv4517183 1 26566042 26566105 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848934 M 10847 0 1 CEP85 nsv5431446 1 26566042 26566105 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902446 M 3202 0 1 CEP85 nsv6549865 1 26567400 26567752 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251584 M 19652 0 0 CEP85 nsv4042589 1 26577269 26577346 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966155 M 10847 1 0 CEP85 nsv6541960 1 26577475 26578685 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251585 M 19652 0 0 CEP85 nsv473502 1 26584334 26584334 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012680 M 9 1 0 CEP85 NA19129 nsv4461101 1 26585622 26585623 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028167 M 10847 1 0 CEP85 nsv4566797 1 26587655 26587656 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028176 M 10847 1 0 CEP85 nsv6258138 1 26588214 26588214 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17842752 M 1021 1 0 CEP85 nsv5430135 1 26590989 26592573 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902448 M 3202 0 1 CEP85 nsv6331664 1 26590993 26592573 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060575 M 19652 0 1 CEP85 nsv6539305 1 26591830 26592393 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251586 M 19652 0 0 CEP85 nsv4038973 1 26597760 26598426 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848935 M 10847 0 1 CEP85 nsv5721799 1 26601089 26601089 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17248581 M 3202 1 0 CEP85 nsv4534110 1 26601498 26601499 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028184 M 10847 1 0 CEP85 esv2745674 1 26608638 26609076 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6839988 M 96 0 1 UBXN11 SSM084 esv3559826 1 26608811 26608889 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758573 M 767 0 1 UBXN11 nsv5983482 1 26608819 26608885 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524941 M 405 0 1 UBXN11 nsv6053465 1 26608829 26608829 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522676 M 405 1 0 UBXN11 nsv4042212 1 26614926 26626635 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848936 M 10847 0 1 UBXN11 nsv6329498 1 26614926 26626635 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060576 M 19652 0 1 UBXN11 nsv6331390 1 26619163 26619946 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060577 M 19652 0 1 UBXN11 nsv5983526 1 26619259 26620126 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530115 M 405 0 1 UBXN11 nsv5426049 1 26623423 26623475 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902450 M 3202 1 0 UBXN11 nsv6323860 1 26625013 26654256 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203468 M 19652 1 0 AIM1L,CD52,UBXN11 nsv4039521 1 26625049 26654204 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966156 M 10847 1 0 AIM1L,CD52,UBXN11 nsv6319738 1 26625218 26626436 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203469 M 19652 1 0 UBXN11 nsv4516543 1 26628219 26628869 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848937 M 10847 0 1 UBXN11 nsv6320987 1 26631104 26639013 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060579 M 19652 0 1 UBXN11 nsv6324830 1 26636990 26639431 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203470 M 19652 1 0 UBXN11 nsv5429576 1 26639211 26643178 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902452 M 3202 0 1 UBXN11 esv3585537 1 26639211 26643189 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893919 M 2504 0 1 UBXN11 HG02613 nsv4518383 1 26640305 26642496 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848938 M 10847 0 1 UBXN11 nsv4461504 1 26644173 26644174 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028193 M 10847 1 0 UBXN11 nsv5681909 1 26644186 26644186 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17189720 M 3202 1 0 UBXN11 nsv5406669 1 26644186 26644237 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902453 M 3202 1 0 UBXN11 nsv6331344 1 26651984 26717297 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203471 M 19652 1 0 AIM1L,ZNF683 esv3664344 1 26653612 26653612 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487113 M 20 1 0 AIM1L nsv4034700 1 26654156 26692578 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966157 M 10847 1 0 AIM1L,ZNF683 nsv4044144 1 26656276 26659083 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966158 M 10847 1 0 AIM1L nsv5424280 1 26660918 26661788 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902454 M 3202 0 1 AIM1L nsv5575741 1 26661234 26661787 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064303 M 35 0 1 AIM1L NA18939 nsv5879755 1 26661234 26661787 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354864 M 914 0 1 AIM1L esv2658785 1 26661234 26661788 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6596271,essv5662530,essv6432689 M 1151 0 3 AIM1L HG00418,NA18632,NA19074 nsv5983694 1 26661251 26661806 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526367 M 405 0 1 AIM1L nsv4046497 1 26661281 26661788 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848939 M 10847 0 1 AIM1L esv2745685 1 26670841 26672080 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6898619,essv6729638,essv6868724,essv6780887,essv6972369,essv6937694,essv6836201,essv6714259,essv6759060 M 96 0 9 AIM1L SSM022,SSM029,SSM043,SSM047,SSM061,SSM068,SSM083,SSM090,SSM100 esv2745697 1 26671160 26671804 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6898619,essv6729638,essv6868724,essv6780887,essv6937694,essv6836201,essv6759060,essv6714259 M 96 0 8 AIM1L SSM022,SSM043,SSM047,SSM061,SSM068,SSM083,SSM090,SSM100 esv2745708 1 26671406 26671587 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6898619,essv6836201,essv6868724 M 96 0 3 AIM1L SSM083,SSM090,SSM100 nsv1114963 1 26671440 26671571 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3975260 M 2 0 1 AIM1L KWS1 nsv1150710 1 26671449 26671609 CNV insertion John_et_al_2014 26484159 Sequencing nssv3996191 M 1 1 0 AIM1L KWB1 nsv4731897 1 26671499 26671550 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16266278 M 25 0 1 AIM1L nsv5584304 1 26671505 26671555 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064304 M 35 0 1 AIM1L HG00731 nsv4449159 1 26671505 26671556 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15766589 M 1 0 1 AIM1L esv3683033 1 26671505 26671558 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467806 M 20 0 1 AIM1L nsv2801163 1 26671506 26671556 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13678840 M 2 0 1 AIM1L nsv3324121 1 26671506 26671556 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477136,nssv14487347,nssv14481502,nssv14481175 M 14 0 4 AIM1L CHM1,HG00733,HX1,NA19434 esv1007945 1 26671507 26671557 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3584480 M 3 0 1 AIM1L HuRef nsv5983613 1 26671510 26671562 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524298 M 405 0 1 AIM1L nsv3174562 1 26671512 26671563 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14445215 M 9 0 0 AIM1L HG00733 nsv3954266 1 26671520 26671570 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181999 M 1 0 1 AIM1L HG002 nsv5881875 1 26671522 26671572 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352388 M 914 0 1 AIM1L esv1693475 1 26671522 26671573 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3874525 M 2 0 1 AIM1L HuRef nsv3205811 1 26671522 26671578 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356222 M 9 0 1 AIM1L HG00733 nsv3055151 1 26671523 26671574 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14031239 M 2 0 1 AIM1L CHM1 esv993255 1 26671529 26671579 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3572032 M 3 0 1 AIM1L HuRef nsv1125458 1 26675212 26675281 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983632 M 2 1 0 AIM1L KWS2 nsv6321860 1 26676537 26679886 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060580 M 19652 0 1 AIM1L nsv545907 1 26679041 26696626 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712042 M 17421 0 1 AIM1L,ZNF683 nsv5948222 1 26686321 26686321 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353269 M 914 1 0 "" nsv4322948 1 26690727 26736954 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789146 M 10847 0 0 ZNF683 nsv4048568 1 26695940 26697984 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848940 M 10847 0 1 ZNF683 nsv6055659 1 26696164 26696164 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532824 M 405 1 0 ZNF683 nsv3520438 1 26696174 26696174 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375161 M 9 1 0 ZNF683 NA19240 nsv5609359 1 26696174 26696174 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064307 M 35 1 0 ZNF683 NA19238 nsv5952281 1 26696174 26696174 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17367791 M 914 1 0 ZNF683 nsv3323726 1 26696175 26696175 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14488254 M 14 1 0 ZNF683 HG00268 nsv4763963 1 26696182 26696182 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16260388 M 25 1 0 ZNF683 nsv5534472 1 26696193 26696225 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902457 M 3202 1 0 ZNF683 nsv4033284 1 26696307 26696769 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848941 M 10847 0 1 ZNF683 nsv4048949 1 26699751 26705855 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966159 M 10847 1 0 "" nsv5879461 1 26702766 26702817 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361722 M 914 0 1 "" nsv4042066 1 26703494 26713098 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848942 M 10847 0 1 "" nsv5874783 1 26703553 26708122 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353445 M 914 0 1 "" nsv6325730 1 26703602 26708051 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060581 M 19652 0 1 "" nsv1014791 1 26704330 26746812 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3478434 M 11257 1 0 LIN28A nsv6550968 1 26705849 26706570 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251587 M 19652 0 0 "" nsv6544642 1 26706834 26710036 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251588 M 19652 0 0 "" nsv6329543 1 26708064 26710889 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203472 M 19652 1 0 "" nsv6544165 1 26709778 26711070 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251589 M 19652 0 0 "" nsv4564315 1 26709993 26709994 CNV mobile element insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028201 M 10847 1 0 "" nsv5545608 1 26709997 26709997 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902458 M 3202 1 0 "" nsv6330847 1 26712594 26718784 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060582 M 19652 0 1 "" nsv6555340 1 26713263 26713710 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251590 M 19652 0 0 "" nsv4461505 1 26715182 26715183 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028217 M 10847 1 0 "" nsv4517718 1 26716102 26716178 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966161 M 10847 1 0 "" nsv4047722 1 26716961 26717237 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848943 M 10847 0 1 "" nsv6546434 1 26720995 26721818 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251591 M 19652 0 0 "" nsv6545371 1 26722569 26723344 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251592 M 19652 0 0 "" esv3585538 1 26722655 26723971 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893920 M 2504 0 1 "" HG03611 nsv5876516 1 26722740 26724002 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355156 M 914 0 1 "" nsv6551327 1 26722742 26723156 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251593 M 19652 0 0 "" nsv5417678 1 26722759 26724026 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902459 M 3202 0 1 "" nsv4537888 1 26722777 26722778 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028227 M 10847 1 0 "" nsv4050667 1 26725801 26726581 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965435 M 10847 1 0 "" nsv6057007 1 26726201 26726201 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519103 M 405 1 0 "" nsv5616710 1 26726245 26726245 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064308 M 35 1 0 "" HG03125 nsv4767040 1 26726290 26726290 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288431 M 25 1 0 "" nsv3533750 1 26726294 26726294 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386571 M 9 1 0 "" NA19240 nsv2801164 1 26726295 26726295 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682260 M 2 1 0 "" nsv3323229 1 26726295 26726295 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479570,nssv14488107,nssv14485454,nssv14475279,nssv14476680,nssv14479754,nssv14489284,nssv14480070,nssv14473400,nssv14491696,nssv14484933,nssv14475481,nssv14485079 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG04217,HX1,NA12878,NA19240,NA19434 nsv3541351 1 26726302 26726302 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413839 M 9 1 0 "" HG00514 esv1056005 1 26726303 26726303 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3860909 M 2 1 0 "" HuRef nsv2801165 1 26726303 26726303 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678485 M 2 1 0 "" esv1539325 1 26726309 26726309 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3612388 M 2 1 0 "" HuRef nsv3541941 1 26726310 26726310 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440528 M 9 1 0 "" HG00733 nsv3942899 1 26726310 26726310 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192277 M 1 1 0 "" HG002 nsv5607335 1 26726310 26726310 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064309 M 35 1 0 "" HG00731 nsv5678827 1 26726310 26726310 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17189274 M 3202 1 0 "" nsv6044050 1 26726310 26726310 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534803 M 405 1 0 "" nsv3056152 1 26726311 26726311 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025170 M 2 1 0 "" NA12878 nsv6042255 1 26726342 26726342 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533463 M 405 1 0 "" nsv2801166 1 26726393 26726393 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684377 M 2 1 0 "" nsv3323727 1 26726393 26726393 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484320,nssv14478721,nssv14481313,nssv14486791 M 14 4 0 "" CHM13,HG01352,HG04217,NA19434 nsv4042924 1 26727103 26727188 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965436 M 10847 1 0 "" nsv5829665 1 26728740 26729939 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465194,nssv17457643 M 914 0 0 "" nsv1077272 1 26736399 26737300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770312 M 1 0 1 LIN28A KWP1 nsv945840 1 26752830 26755928 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765418,nssv1765484,nssv1765492,nssv1765462,nssv1765496,nssv1765466,nssv1765413,nssv1765489,nssv1765437,nssv1765475,nssv1765424,nssv1765506,nssv1765499,nssv1765486,nssv1765438,nssv1765458,nssv1765417,nssv1765467,nssv1765445,nssv1765473,nssv1765429,nssv1765468,nssv1765430,nssv1765488,nssv1765427,nssv1765487,nssv1765428,nssv1765477,nssv1765435,nssv1765471,nssv1765446,nssv1765470,nssv1765439,nssv1765457,nssv1765491,nssv1765472,nssv1765495,nssv1765464,nssv1765493,nssv1765500,nssv1765420,nssv1765474,nssv1765497,nssv1765476,nssv1765432,nssv1765481,nssv1765444,nssv1765501,nssv1765434,nssv1765469,nssv1765442,nssv1765463,nssv1765490,nssv1765483,nssv1765433,nssv1765507,nssv1765431,nssv1765459,nssv1765449,nssv1765504,nssv1765421,nssv1765478,nssv1765425,nssv1765485,nssv1765448,nssv1765502,nssv1765450,nssv1765453,nssv1765441,nssv1765455,nssv1765447,nssv1765509,nssv1765494,nssv1765461,nssv1765436,nssv1765465,nssv1765440,nssv1765482,nssv1765419,nssv1765460,nssv1765426,nssv1765456,nssv1765443,nssv1765454,nssv1765423,nssv1765479,nssv1765498,nssv1765505,nssv1765416,nssv1765480,nssv1765422,nssv1765508,nssv1765415,nssv1765503,nssv1765414,nssv1765451,nssv1765452 M 97 10 0 LIN28A HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4461506 1 26753239 26753240 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028815 M 10847 1 0 LIN28A nsv4535615 1 26754294 26754295 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028825 M 10847 1 0 LIN28A esv3664356 1 26755414 26755414 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487124 M 20 1 0 LIN28A nsv4516494 1 26756686 26757618 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848944 M 10847 0 1 "" nsv6315915 1 26760292 26761391 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060583 M 19652 0 1 DHDDS nsv6321465 1 26760477 26762493 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203473 M 19652 1 0 DHDDS nsv4050599 1 26760478 26762493 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965437 M 10847 1 0 DHDDS nsv4461331 1 26760628 26760629 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028835 M 10847 1 0 DHDDS nsv5429186 1 26761411 26761760 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902461 M 3202 0 1 DHDDS nsv6554227 1 26763091 26763542 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251594 M 19652 0 0 DHDDS nsv5829666 1 26764908 26766107 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468140 M 914 0 0 DHDDS esv3664365 1 26765585 26765585 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487132 M 20 1 0 DHDDS nsv5579756 1 26766434 26766510 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064310 M 35 0 1 DHDDS HG02011 nsv5881768 1 26766434 26766510 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357112 M 914 0 1 DHDDS nsv4516782 1 26766436 26766511 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848945 M 10847 0 1 DHDDS nsv5420491 1 26766436 26766511 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902462 M 3202 0 1 DHDDS nsv5420593 1 26767804 26767931 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902463 M 3202 0 1 DHDDS nsv6138287 1 26773831 26774412 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902464 M 3202 0 1 DHDDS nsv6322238 1 26774988 26775617 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060584 M 19652 0 1 DHDDS nsv6537920 1 26778373 26779328 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251595 M 19652 0 0 DHDDS nsv945841 1 26778976 26782555 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765537,nssv1765577,nssv1765540,nssv1765550,nssv1765538,nssv1765570,nssv1765531,nssv1765581,nssv1765591,nssv1765553,nssv1765545,nssv1765605,nssv1765526,nssv1765602,nssv1765529,nssv1765580,nssv1765596,nssv1765552,nssv1765541,nssv1765564,nssv1765525,nssv1765559,nssv1765594,nssv1765555,nssv1765524,nssv1765563,nssv1765593,nssv1765560,nssv1765533,nssv1765549,nssv1765527,nssv1765569,nssv1765510,nssv1765572,nssv1765543,nssv1765586,nssv1765517,nssv1765556,nssv1765522,nssv1765551,nssv1765532,nssv1765583,nssv1765535,nssv1765575,nssv1765521,nssv1765548,nssv1765516,nssv1765568,nssv1765536,nssv1765584,nssv1765542,nssv1765578,nssv1765534,nssv1765603,nssv1765590,nssv1765571,nssv1765528,nssv1765585,nssv1765592,nssv1765597,nssv1765518,nssv1765567,nssv1765588,nssv1765601,nssv1765546,nssv1765561,nssv1765539,nssv1765558,nssv1765544,nssv1765576,nssv1765514,nssv1765554,nssv1765587,nssv1765604,nssv1765530,nssv1765582,nssv1765523,nssv1765565,nssv1765547,nssv1765573,nssv1765589,nssv1765599,nssv1765515,nssv1765600,nssv1765511,nssv1765574,nssv1765513,nssv1765566,nssv1765520,nssv1765598,nssv1765595,nssv1765562,nssv1765512,nssv1765606,nssv1765519,nssv1765557,nssv1765579 M 97 10 0 DHDDS HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5431505 1 26787026 26787222 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902465 M 3202 1 0 DHDDS nsv4051016 1 26796000 26801000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965438 M 10847 1 0 DHDDS,HMGN2 nsv947418 1 26797105 26803771 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2761713 M 97 1 0 DHDDS,HMGN2 HGDP00998 nsv945842 1 26801209 26802724 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766300,nssv1766279,nssv1765612,nssv1766282,nssv1765629,nssv1766275,nssv1765624,nssv1766292,nssv1765619,nssv1766291,nssv1765625,nssv1766267,nssv1766301,nssv1766298,nssv1766305,nssv1766294,nssv1765631,nssv1766272,nssv1765641,nssv1766295,nssv1766302,nssv1766299,nssv1766309,nssv1766285,nssv1765634,nssv1765647,nssv1765633,nssv1766276,nssv1765627,nssv1766293,nssv1765642,nssv1766269,nssv1765621,nssv1766277,nssv1765635,nssv1766264,nssv1765639,nssv1766268,nssv1765614,nssv1766297,nssv1765613,nssv1766273,nssv1765623,nssv1765645,nssv1765644,nssv1766318,nssv1765620,nssv1766265,nssv1765638,nssv1766280,nssv1765636,nssv1766296,nssv1765622,nssv1766284,nssv1765632,nssv1766281,nssv1765615,nssv1766315,nssv1765611,nssv1766288,nssv1765626,nssv1766270,nssv1766303,nssv1766313,nssv1766307,nssv1766283,nssv1765643,nssv1766278,nssv1765607,nssv1766287,nssv1766306,nssv1766312,nssv1766304,nssv1766271,nssv1765628,nssv1766316,nssv1765637,nssv1766266,nssv1765640,nssv1766290,nssv1765618,nssv1765646,nssv1765630,nssv1766314,nssv1765617,nssv1766310,nssv1766308,nssv1766289,nssv1765610,nssv1766311,nssv1765616,nssv1766317,nssv1765609,nssv1766286,nssv1765608,nssv1766274,nssv1766319 M 97 10 0 HMGN2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5983483 1 26804984 26805046 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531358 M 405 0 1 "" esv3577795 1 26805683 26863744 CNV loss Uddin_et_al_2014 25503493 SNP array essv9833755 M 873 0 1 RPS6KA1 400234CA dgv41n166 1 26805990 26812235 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4041063,nsv4036666,nsv4048035 M 10847 0 3 "" nsv5422815 1 26806995 26807407 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902466 M 3202 0 1 "" nsv6322903 1 26807009 26812226 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060585 M 19652 0 1 "" esv3585539 1 26807474 26812234 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893921 M 2504 0 1 "" HG01890 nsv5423700 1 26807498 26812234 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902467 M 3202 0 1 "" nsv4044385 1 26808319 26813941 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848950 M 10847 0 1 "" nsv6328299 1 26810352 26811456 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060586 M 19652 0 1 "" nsv4048366 1 26811162 26821555 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848951 M 10847 0 1 "" nsv6319429 1 26811901 26812534 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060587 M 19652 0 1 "" nsv6326068 1 26812072 26854708 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060588 M 19652 0 1 "" nsv5868792 1 26812072 26854737 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352056 M 914 0 1 "" nsv5432133 1 26812116 26854714 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902468 M 3202 0 1 "" nsv5829809 1 26812323 26814733 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464450 M 914 0 0 "" nsv4033448 1 26812371 26818252 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848952 M 10847 0 1 "" nsv6538520 1 26812489 26813142 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251596 M 19652 0 0 "" nsv5609534 1 26814949 26814949 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064311 M 35 1 0 "" HG03486 nsv4737753 1 26814990 26815054 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16291417 M 25 0 1 "" nsv5538144 1 26815033 26815101 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902469 M 3202 1 0 "" nsv5605750 1 26815034 26815034 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064312 M 35 1 0 "" HG03683 nsv3323728 1 26815082 26815082 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477831 M 14 1 0 "" HG02059 dgv156n152 1 26815149 26815227 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3200093,nsv3199574 M 9 0 1 "" NA19240 nsv5829667 1 26815443 26817292 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464178 M 914 0 0 "" esv3585540 1 26816310 26828074 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893922 M 2504 0 1 "" HG04002 nsv5829810 1 26816593 26829667 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451583 M 914 0 0 "" nsv3197384 1 26820659 26821126 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356294 M 9 0 1 "" HG00514 nsv1113094 1 26820686 26820753 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967988 M 2 0 1 "" KWS2 nsv6316174 1 26826240 26830064 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060591 M 19652 0 1 "" nsv4533731 1 26827846 26827847 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028854 M 10847 1 0 "" esv3664370 1 26831026 26831026 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487137 M 20 1 0 "" nsv5829931 1 26831243 26839722 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464979 M 914 0 0 "" nsv5883040 1 26831270 26839989 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364375 M 914 0 1 "" nsv5432912 1 26831317 26839990 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902473 M 3202 0 1 "" esv3585541 1 26831324 26840058 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893923,essv9893924 M 2504 0 2 "" NA20768,NA20801 nsv5881617 1 26832075 26832477 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363581 M 914 0 1 "" nsv6318359 1 26832801 26838393 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060592 M 19652 0 1 "" nsv4050600 1 26832805 26838408 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15848953 M 10847 0 1 "" nsv3523400 1 26832875 26832875 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380103 M 9 1 0 "" NA19240 nsv5613488 1 26832875 26832875 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064314 M 35 1 0 "" NA19238 nsv3323729 1 26832876 26832876 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14472345 M 14 1 0 "" NA19240 nsv5983695 1 26834538 26834695 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536078 M 405 0 1 "" dgv42n166 1 26834733 26841502 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4039522,nsv4039360 M 10847 0 2 "" nsv6330733 1 26834812 26840757 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060593 M 19652 0 1 "" nsv4738285 1 26834822 26834926 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16264989 M 25 0 1 "" nsv4326321 1 26835007 27131466 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789147 M 10847 0 0 ARID1A,MIR1976,PIGV,RPS6KA1 nsv545908 1 26835791 26988026 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712043 M 17421 0 1 MIR1976,RPS6KA1 nsv4046308 1 26837135 26837239 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849512 M 10847 0 1 "" nsv5829932 1 26838096 26852031 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467457 M 914 0 0 "" nsv5983696 1 26838253 26838389 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529681 M 405 0 1 "" nsv5983697 1 26838473 26838575 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535260 M 405 0 1 "" nsv5983484 1 26838795 26838848 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521018 M 405 0 1 "" nsv5723382 1 26839664 26839664 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17247694,nssv17251338 M 3202 2 0 "" nsv6546650 1 26841029 26841415 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251597 M 19652 0 0 "" nsv4039307 1 26841595 26842025 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965439 M 10847 1 0 "" nsv945843 1 26845711 26849420 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1766347,nssv1766377,nssv1766353,nssv1766384,nssv1766349,nssv1765275,nssv1766335,nssv1765296,nssv1766334,nssv1766359,nssv1766325,nssv1766367,nssv1765284,nssv1765277,nssv1766339,nssv1766362,nssv1765285,nssv1765302,nssv1765291,nssv1765276,nssv1766337,nssv1766371,nssv1766320,nssv1766383,nssv1766355,nssv1766363,nssv1765293,nssv1766364,nssv1766344,nssv1765283,nssv1766341,nssv1765278,nssv1766346,nssv1766360,nssv1766343,nssv1766368,nssv1766356,nssv1765299,nssv1766357,nssv1766376,nssv1766338,nssv1765301,nssv1765288,nssv1766373,nssv1765290,nssv1766366,nssv1766340,nssv1765280,nssv1766342,nssv1766358,nssv1765289,nssv1766374,nssv1766324,nssv1765294,nssv1766326,nssv1766378,nssv1766327,nssv1766365,nssv1766350,nssv1766370,nssv1766354,nssv1766379,nssv1766328,nssv1766382,nssv1765286,nssv1765298,nssv1766333,nssv1766369,nssv1766332,nssv1765281,nssv1766345,nssv1765282,nssv1765287,nssv1765303,nssv1766336,nssv1766361,nssv1766331,nssv1766375,nssv1766351,nssv1766386,nssv1766348,nssv1766385,nssv1766352,nssv1765279,nssv1765292,nssv1765297,nssv1766330,nssv1766381,nssv1766329,nssv1766380,nssv1766322,nssv1765295,nssv1766321,nssv1766387,nssv1766323,nssv1765300,nssv1766372 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv3222047 1 26846492 26850337 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261097,nssv14261098 M 9 2 0 "" HG00512,NA19238 nsv4461332 1 26846730 26846731 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028865 M 10847 1 0 "" nsv5868011 1 26853180 26853520 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352091 M 914 0 1 "" esv3664382 1 26854138 26854138 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487148 M 20 1 0 "" nsv6326471 1 26855592 26856891 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060594 M 19652 0 1 RPS6KA1 nsv526179 1 26861281 26905567 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv702441 M 2026 1 0 MIR1976,RPS6KA1 esv3409657 1 26862765 26865863 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692260 M 185 1 0 RPS6KA1 NA19239 nsv4048882 1 26866000 26872250 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965440 M 10847 1 0 RPS6KA1 nsv5425318 1 26870821 26871129 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902475 M 3202 1 0 RPS6KA1 nsv5877907 1 26870839 26871386 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17365696 M 914 1 0 RPS6KA1 nsv6328040 1 26875830 26886309 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060595 M 19652 0 1 MIR1976,RPS6KA1 nsv4535335 1 26887806 26887807 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028876 M 10847 1 0 RPS6KA1 nsv5681144 1 26887821 26887821 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17189350,nssv17205720 M 3202 2 0 RPS6KA1 nsv5401407 1 26887821 26887872 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902477 M 3202 1 0 RPS6KA1 nsv5829811 1 26889357 26892305 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459233 M 914 0 0 RPS6KA1 nsv6330764 1 26889392 26890791 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203478 M 19652 1 0 RPS6KA1 nsv5875056 1 26889433 26892157 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17361484 M 914 1 0 RPS6KA1 nsv4048764 1 26889433 26892183 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965441 M 10847 1 0 RPS6KA1 nsv5423467 1 26889452 26892207 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902478 M 3202 1 0 RPS6KA1 nsv6547452 1 26890466 26890882 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251598 M 19652 0 0 RPS6KA1 nsv6321306 1 26890592 26892191 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203479 M 19652 1 0 RPS6KA1 nsv5680084 1 26894621 26894621 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17190237 M 3202 1 0 RPS6KA1 nsv5410037 1 26894621 26894672 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902479 M 3202 1 0 RPS6KA1 nsv6319935 1 26895007 26896069 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060596 M 19652 0 1 RPS6KA1 nsv4041621 1 26901415 26908141 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849514 M 10847 0 1 RPS6KA1 nsv5422100 1 26908215 26908553 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902480 M 3202 1 0 "" nsv6538397 1 26911965 26912253 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251599 M 19652 0 0 "" nsv5870208 1 26911970 26912042 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369180 M 914 0 1 "" nsv4045510 1 26911970 26912043 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849515 M 10847 0 1 "" nsv6332170 1 26912804 26918851 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060597 M 19652 0 1 "" nsv4050757 1 26912805 26918850 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849516 M 10847 0 1 "" nsv6319233 1 26913040 26927259 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060598 M 19652 0 1 "" nsv4051536 1 26914159 26915127 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965442 M 10847 1 0 "" nsv6321560 1 26914178 26915125 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203480 M 19652 1 0 "" nsv6536019 1 26915743 26916592 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251600 M 19652 0 0 "" nsv6315792 1 26916129 26918641 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060599 M 19652 0 1 "" nsv6258149 1 26919353 26919353 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17842753 M 1021 1 0 "" esv8356 1 26921706 26921863 CNV gain Ahn_et_al_2009 19470904 Sequencing essv30797 M 1 0 0 "" nsv3277527 1 26922776 26922896 CNV sva deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14418390 M 9 0 1 "" HG00514 nsv5568725 1 26922817 26922897 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064874 M 35 0 1 "" HG00512 nsv5983488 1 26922836 26922920 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523066 M 405 0 1 "" nsv4739736 1 26922859 26922941 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16267821 M 25 0 1 "" nsv3324137 1 26922867 26922945 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476920 M 14 0 1 "" HG02059 nsv5983703 1 26923267 26923320 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522474 M 405 0 1 "" esv3893192 1 26924308 26981479 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25785057,essv25786976 M 3017 0 2 "" nsv7175 1 26924474 27013442 OTHER inversion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv994,nssv6489,nssv5431,nssv4025,nssv6480,nssv5440,nssv1994,nssv9811,nssv10774 M 9 0 0 "" NA12156,NA12878,NA18507,NA18555,NA18956,NA19129,NA19240 esv3585542 1 26930663 26940558 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893925 M 2504 0 1 "" HG01938 nsv5431494 1 26930878 26940446 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902482 M 3202 0 1 "" nsv5954254 1 26932022 26932022 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351232 M 914 1 0 "" nsv4532945 1 26932022 26932023 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028887 M 10847 1 0 "" nsv5729303 1 26932036 26932036 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17248099 M 3202 1 0 "" nsv5558140 1 26932036 26932087 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902484 M 3202 1 0 "" nsv6542003 1 26934995 26935405 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251601 M 19652 0 0 "" nsv1140409 1 26935305 26935367 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979115 M 2 1 0 "" KWS2 nsv5692036 1 26936159 26936159 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17189473 M 3202 1 0 "" nsv4042769 1 26940315 26944726 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849517 M 10847 0 1 "" nsv5983489 1 26948776 26959852 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529268 M 405 0 1 "" nsv4035941 1 26948800 26960000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849518 M 10847 0 1 "" nsv6333730 1 26949651 26954196 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203481 M 19652 1 0 "" nsv6548886 1 26950620 26951688 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251602 M 19652 0 0 "" nsv6538471 1 26950961 26951706 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251603 M 19652 0 0 "" nsv6553832 1 26951157 26951327 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251604 M 19652 0 0 "" nsv3117596 1 26952475 26956158 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14100253 M 467 0 1 "" sample384 nsv5414006 1 26953654 26961654 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902486 M 3202 0 1 "" nsv6334468 1 26957255 26965903 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060600 M 19652 0 1 "" nsv6539321 1 26957669 26958142 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251605 M 19652 0 0 "" nsv3215222 1 26958758 27016644 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271762,nssv14271761 M 9 2 0 "" HG00512,HG00514 nsv5430770 1 26959347 26960725 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902487 M 3202 0 1 "" esv3585543 1 26959466 26960891 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893926 M 2504 0 1 "" HG02522 nsv5886813 1 26959764 26960588 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359515 M 914 0 1 "" nsv5414892 1 26959801 26960073 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902488 M 3202 0 1 "" nsv6324682 1 26960009 26980529 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060601 M 19652 0 1 "" nsv4051692 1 26960014 26980610 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849519 M 10847 0 1 "" nsv6323981 1 26960392 26963591 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060602 M 19652 0 1 "" nsv6554965 1 26960705 26961101 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251606 M 19652 0 0 "" esv2675869 1 26960845 26964542 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6029109,essv5752424,essv5756525,essv5559459,essv5654616,essv5681896,essv6585924,essv5443462,essv5819757,essv5635409,essv6147646,essv5635087,essv6450879,essv5565156,essv6531873,essv5416539,essv6146079,essv5838761,essv6172130,essv6023037,essv6468592,essv6589909,essv6583254,essv6471335,essv5935301,essv6507943,essv6085083,essv5824210,essv6157685,essv5807183,essv6073574,essv6544205,essv5687760,essv6287432,essv6565967,essv5680938,essv6456316,essv5420380,essv6267957,essv5741634,essv5634157,essv5750114,essv6517337,essv6587450,essv6328750,essv6529752,essv6278167,essv6478476,essv6462027,essv6072634,essv5848002,essv6333802,essv5888950,essv5698801,essv5890061,essv5861817,essv6457208,essv6351309,essv5403542,essv5991736,essv6252533,essv5512034,essv6249690,essv6465137,essv5835264,essv5417997,essv5943179,essv6590244,essv6066746,essv6157312,essv6091890,essv6559479,essv6249713,essv6273283,essv5929796,essv6178506,essv5656579,essv5711764,essv5636077,essv5748576,essv5817535,essv6355154,essv6405732,essv5820257,essv6174958,essv6029269,essv5468708,essv5939566,essv6317292,essv6529960,essv6139602,essv6159954,essv5736488,essv6208659,essv5870410,essv6500522,essv6435458,essv5961638,essv5870473,essv5776993,essv6593383,essv5605635,essv5680427,essv6025720,essv6316913,essv5517951,essv5466097,essv5990676,essv5716306,essv5415815,essv5602542,essv5608011,essv6115109,essv6203073,essv6110156,essv6156340,essv5437475,essv6373838,essv6134468,essv5725531,essv6252935,essv5601284,essv5777934,essv5724819,essv5775357,essv5832642,essv5514039,essv6229490,essv6556068,essv5824535,essv5505611,essv5726142,essv5898139,essv5710359,essv6394375,essv6566398,essv5821621,essv6247509,essv6049375,essv5750699,essv6295124,essv5874843,essv6198991,essv5730013,essv6124040,essv6238872,essv6531213,essv6065791,essv5664973,essv5728665,essv5828172,essv5534434,essv5710313,essv5474126,essv6333035 M 1151 0 155 "" HG00403,HG00418,HG00419,HG00421,HG00422,HG00428,HG00442,HG00443,HG00448,HG00463,HG00464,HG00473,HG00476,HG00478,HG00500,HG00513,HG00525,HG00530,HG00531,HG00533,HG00534,HG00536,HG00537,HG00542,HG00556,HG00578,HG00580,HG00584,HG00589,HG00590,HG00596,HG00607,HG00610,HG00613,HG00614,HG00619,HG00620,HG00628,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG01124,HG01136,HG01137,HG01140,HG01148,HG01149,HG01350,HG01351,HG01353,HG01354,HG01356,HG01383,HG01384,HG01389,HG01390,HG01437,HG01440,HG01441,HG01461,HG01489,HG01491,HG01492,HG01497,HG01498,NA18526,NA18535,NA18541,NA18546,NA18557,NA18560,NA18565,NA18566,NA18567,NA18572,NA18595,NA18599,NA18602,NA18606,NA18611,NA18613,NA18617,NA18618,NA18619,NA18624,NA18626,NA18627,NA18636,NA18637,NA19312,NA19313,NA19319,NA19347,NA19355,NA19377,NA19391,NA19396,NA19397,NA19429,NA19431,NA19434,NA19436,NA19437,NA19438,NA19440,NA19443,NA19445,NA19449,NA19452,NA19453,NA19455,NA19461,NA19462,NA19463,NA19466,NA19467,NA19468,NA19469,NA19470,NA19664,NA19675,NA19678,NA19679,NA19681,NA19682,NA19717,NA19720,NA19729,NA19732,NA19747,NA19750,NA19762,NA19773,NA19774,NA19777,NA19780 nsv5423040 1 26960984 26963527 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902489 M 3202 0 1 "" nsv3324141 1 26961263 26963529 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481254,nssv14484209,nssv14482392 M 14 0 3 "" HG01352,HG02059,HG02106 nsv5568090 1 26961278 26963543 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064442 M 35 0 1 "" HG03125 nsv5871057 1 26961278 26963543 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354709 M 914 0 1 "" esv2671795 1 26961278 26963544 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5534944,essv5938040,essv5770217,essv5409818,essv6073124,essv6277030,essv5433272,essv5420406,essv5789197,essv5466253,essv6484145,essv6472545,essv5441817,essv5711570,essv5654801,essv6423972,essv6481122,essv5950987,essv6595086,essv5415167,essv6537243,essv6355964,essv6104520,essv6297040,essv6257012,essv6405909,essv5966284,essv5658852,essv6506209,essv6334972,essv5859958,essv6175225,essv5801159,essv6165822,essv5771176,essv5713756,essv6394515,essv5733153,essv5605829,essv6356548,essv5756465,essv5856166,essv5451796,essv6237104,essv5959918,essv5509127,essv6226046,essv6541024,essv5584876,essv5978522,essv6490593,essv5578617,essv6547581,essv5536961,essv6405808,essv6305338,essv6254661,essv6016668,essv5907424,essv6113134,essv6422612,essv6027946,essv6540148,essv6448542,essv5719493,essv5897027,essv6136779,essv6131743 M 1151 0 68 "" HG00190,HG00501,HG00512,HG00531,HG00610,HG00637,HG00698,HG00736,HG01051,HG01061,HG01079,HG01082,HG01124,HG01133,HG01137,HG01149,HG01168,HG01187,HG01188,HG01351,HG01383,HG01437,HG01461,HG01489,HG01498,NA18520,NA18523,NA18535,NA18541,NA18557,NA18567,NA18602,NA18605,NA18618,NA18619,NA18624,NA18941,NA18942,NA18952,NA18999,NA19007,NA19068,NA19072,NA19083,NA19256,NA19319,NA19396,NA19397,NA19445,NA19449,NA19453,NA19467,NA19675,NA19678,NA19679,NA19681,NA19682,NA19717,NA19720,NA19732,NA19747,NA19762,NA19770,NA19773,NA19777,NA19783,NA19835,NA19916 esv3585544 1 26961278 26963544 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9893991,essv9894056,essv9894008,essv9894050,essv9894037,essv9894059,essv9894016,essv9894053,essv9894040,essv9894062,essv9894021,essv9894049,essv9893996,essv9894051,essv9893993,essv9894057,essv9894026,essv9894058,essv9894041,essv9894061,essv9894010,essv9894052,essv9893998,essv9894054,essv9894013,essv9894060,essv9893982,essv9894055,essv9894023,essv9894063,essv9894047,essv9894048,essv9893992,essv9894154,essv9894066,essv9894018,essv9894130,essv9894067,essv9894045,essv9894127,essv9894074,essv9894025,essv9894139,essv9894064,essv9894007,essv9894138,essv9894076,essv9893989,essv9894157,essv9894068,essv9893981,essv9894155,essv9894077,essv9893999,essv9894128,essv9894071,essv9894038,essv9894153,essv9894070,essv9893987,essv9894133,essv9894069,essv9894033,essv9894160,essv9894065,essv9894024,essv9894143,essv9894072,essv9893983,essv9894125,essv9894073,essv9894012,essv9894141,essv9894075,essv9894011,essv9894156,essv9893980,essv9894147,essv9894044,essv9894134,essv9893990,essv9894159,essv9894019,essv9894146,essv9893985,essv9894135,essv9894027,essv9894142,essv9893997,essv9894158,essv9894030,essv9894151,essv9894003,essv9894132,essv9894046,essv9894131,essv9893988,essv9894150,essv9894000,essv9894149,essv9894005,essv9894145,essv9893984,essv9894140,essv9894015,essv9894137,essv9894034,essv9894152,essv9893986,essv9894136,essv9894028,essv9894144,essv9894031,essv9894126,essv9894039,essv9894148,essv9894017,essv9894129,essv9894001,essv9893928,essv9894032,essv9893965,essv9893979,essv9893977,essv9893995,essv9893952,essv9894009,essv9893957,essv9894002,essv9893961,essv9894014,essv9893937,essv9894022,essv9893970,essv9894036,essv9893949,essv9894004,essv9893966,essv9894020,essv9893973,essv9894006,essv9893960,essv9893994,essv9893978,essv9894042,essv9893942,essv9894043,essv9893933,essv9894029,essv9893944,essv9894035,essv9893955,essv9894098,essv9893929,essv9894089,essv9893951,essv9894083,essv9893947,essv9894105,essv9893935,essv9894086,essv9893967,essv9894103,essv9893934,essv9894115,essv9893958,essv9894109,essv9893954,essv9894108,essv9893968,essv9894124,essv9893972,essv9894094,essv9893932,essv9894114,essv9893930,essv9894116,essv9893941,essv9894088,essv9893976,essv9894084,essv9893974,essv9894106,essv9893969,essv9894079,essv9893964,essv9894080,essv9893971,essv9894102,essv9893936,essv9894122,essv9893948,essv9894117,essv9893959,essv9894101,essv9893943,essv9894113,essv9893953,essv9894121,essv9893940,essv9894107,essv9893946,essv9894096,essv9893956,essv9894091,essv9893931,essv9894090,essv9893950,essv9894119,essv9893938,essv9894100,essv9893939,essv9894085,essv9893975,essv9894104,essv9893962,essv9894110,essv9893963,essv9894092,essv9893945,essv9894123,essv9893927,essv9894097,essv9894093,essv9894081,essv9894120,essv9894078,essv9894095,essv9894111,essv9894118,essv9894099,essv9894082,essv9894112,essv9894087 M 2504 0 234 "" HG00190,HG00531,HG00551,HG00598,HG00599,HG00610,HG00637,HG00698,HG00736,HG00864,HG01051,HG01061,HG01079,HG01082,HG01086,HG01104,HG01113,HG01124,HG01133,HG01137,HG01139,HG01149,HG01162,HG01168,HG01187,HG01188,HG01277,HG01308,HG01323,HG01326,HG01341,HG01344,HG01351,HG01369,HG01383,HG01393,HG01402,HG01405,HG01412,HG01431,HG01435,HG01437,HG01443,HG01444,HG01447,HG01461,HG01489,HG01497,HG01498,HG01556,HG01572,HG01586,HG01811,HG01817,HG01841,HG01858,HG01862,HG01864,HG01871,HG01917,HG01921,HG01923,HG01924,HG01926,HG01927,HG01932,HG01933,HG01936,HG01938,HG01939,HG01944,HG01945,HG01948,HG01950,HG01951,HG01954,HG01961,HG01965,HG01968,HG01973,HG01974,HG01976,HG01977,HG01979,HG01982,HG01991,HG02003,HG02025,HG02049,HG02057,HG02061,HG02069,HG02072,HG02081,HG02104,HG02116,HG02121,HG02147,HG02150,HG02154,HG02179,HG02181,HG02252,HG02259,HG02262,HG02271,HG02272,HG02277,HG02278,HG02285,HG02286,HG02291,HG02298,HG02299,HG02301,HG02312,HG02345,HG02348,HG02355,HG02373,HG02385,HG02511,HG02521,HG02555,HG02684,HG02728,HG02817,HG03052,HG03091,HG03123,HG03162,HG03163,HG03189,HG03224,HG03279,HG03297,HG03342,HG03520,HG03521,HG03603,HG03649,HG03668,HG03702,HG03796,HG03800,HG03815,HG03856,HG03922,HG03960,HG04141,HG04156,NA18502,NA18520,NA18523,NA18526,NA18528,NA18535,NA18541,NA18546,NA18557,NA18566,NA18567,NA18572,NA18579,NA18602,NA18605,NA18618,NA18619,NA18624,NA18639,NA18640,NA18643,NA18757,NA18879,NA18939,NA18941,NA18942,NA18943,NA18952,NA18973,NA18976,NA18981,NA18985,NA18998,NA18999,NA19007,NA19026,NA19043,NA19068,NA19072,NA19083,NA19091,NA19096,NA19160,NA19185,NA19256,NA19319,NA19321,NA19391,NA19397,NA19445,NA19449,NA19466,NA19467,NA19475,NA19678,NA19679,NA19681,NA19682,NA19717,NA19720,NA19729,NA19732,NA19734,NA19741,NA19747,NA19750,NA19762,NA19764,NA19770,NA19771,NA19773,NA19774,NA19777,NA19780,NA19783,NA19786,NA19835,NA19916,NA20299,NA20357,NA20895,NA21107,NA21108 nsv3206490 1 26961289 26963540 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356951,nssv14356952 M 9 0 2 "" HG00512,HG00514 nsv5983529 1 26961294 26963528 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525328 M 405 0 1 "" nsv4743873 1 26961308 26963572 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289929 M 25 0 1 "" nsv4516776 1 26961310 26963527 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849520 M 10847 0 1 "" nsv5829668 1 26961464 26962463 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17449818 M 914 0 0 "" nsv6541196 1 26964167 26969711 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251607 M 19652 0 0 "" nsv6100980 1 26964632 26972922 OTHER inversion Wu_et_al_2021 34764282 Sequencing nssv17536760 M 405 0 0 "" esv994838 1 26964851 26977135 OTHER inversion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564799 M 3 0 0 "" HuRef nsv3324143 1 26965193 26965193 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488439 M 14 1 0 "" HG00514 nsv3933477 1 26965809 26965809 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192278 M 1 1 0 "" HG002 nsv6041853 1 26965809 26965809 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536246 M 405 1 0 "" nsv2801806 1 26965827 26975245 OTHER inversion Huddleston_et_al_2016 27895111 Sequencing nssv13701468,nssv13707879 M 2 0 0 "" CHM1,CHM13 nsv3323250 1 26965827 26975245 OTHER inversion Audano_et_al_2019 30661756 Sequencing nssv14489575,nssv14491737,nssv14480828,nssv14476429,nssv14488530,nssv14474998,nssv14490572,nssv14481378,nssv14484883,nssv14475683,nssv14475841,nssv14485080,nssv14480649,nssv14476002 M 14 0 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv6553015 1 26966118 26974952 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251608 M 19652 0 0 "" nsv3196163 1 26966207 26973357 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255367 M 9 0 1 "" HG00513 dgv2n50 1 26966259 26974522 OTHER inversion Arlt_et_al_2011 21212237 Sequencing,SNP array nsv513635,nsv513634 M 1 0 0 "" 1 nsv5670744 1 26966348 26974667 OTHER inversion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064447 M 35 0 0 "" dgv4n199 1 26966805 26974236 OTHER inversion Quan_et_al_2021 34034800 Sequencing nsv4756076,nsv4762353 M 25 0 0 "" nsv499540 1 26966819 26973363 OTHER inversion Kidd_et_al_2010b 21111241 Sequencing nssv585485 M 9 0 0 "" dgv72e59 1 26966923 26974126 OTHER inversion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3333532,esv3349952 M 185 0 0 "" NA12878 nsv4730144 1 26967548 26973511 OTHER inversion Hanlon_et_al_2021 34332539 Sequencing nssv16258298,nssv16258652,nssv16256792,nssv16258832,nssv16257689,nssv16258510,nssv16256488,nssv16258760,nssv16255921,nssv16258099,nssv16257418,nssv16258450,nssv16257087,nssv16257249,nssv16257078,nssv16256195,nssv16257952,nssv16256225 M 9 0 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5829669 1 26967644 26969853 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469361 M 914 0 0 "" esv1761897 1 26967822 26973219 OTHER inversion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4032934 M 2 0 0 "" HuRef nsv6545684 1 26968123 26969367 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251609 M 19652 0 0 "" nsv822198 1 26970748 26972771 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1427251 M 31 1 0 "" AK8 nsv3925173 1 26975246 26975553 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182479 M 1 0 1 "" HG002 nsv5983493 1 26975251 26975558 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521559 M 405 0 1 "" nsv5829962 1 26976608 26979804 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459117 M 914 0 0 "" nsv5875346 1 26977118 26987572 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368850 M 914 0 1 "" nsv5829933 1 26977726 26987554 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463672 M 914 0 0 "" nsv5980223 1 26978776 26987756 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17367349 M 914 0 0 "" nsv4043113 1 26980386 26988185 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849521 M 10847 0 1 "" nsv6334280 1 26980386 26988185 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060603 M 19652 0 1 "" nsv6543296 1 26982801 26982939 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251610 M 19652 0 0 "" nsv1144362 1 26983785 26983843 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995117 M 2 0 1 "" KWS1 nsv6548311 1 26985429 26986045 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251611 M 19652 0 0 "" nsv6319277 1 26986208 26993021 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060604 M 19652 0 1 "" nsv5429032 1 26986606 26986674 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902491 M 3202 0 1 "" nsv6329530 1 26988198 26989498 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060605 M 19652 0 1 "" esv3585545 1 26988203 26989515 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894161 M 2504 0 1 "" HG02274 nsv4034359 1 26988234 26989498 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849523 M 10847 0 1 "" nsv5428030 1 26988234 26989498 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902492 M 3202 0 1 "" nsv6539460 1 26988281 26988736 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251612 M 19652 0 0 "" nsv4461333 1 26989243 26989244 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028894 M 10847 1 0 "" nsv5875242 1 26989900 26990189 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361217 M 914 0 1 "" nsv6316049 1 26992174 26995329 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060606 M 19652 0 1 "" nsv6318104 1 26992975 26993952 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060607 M 19652 0 1 "" nsv5418894 1 26994523 26998082 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902493 M 3202 0 1 "" nsv4041746 1 26995420 26998312 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965443 M 10847 1 0 "" nsv4461102 1 26996111 26996112 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028903 M 10847 1 0 "" esv3664391 1 26996426 26996426 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487156 M 20 1 0 "" esv275548 1 26997066 27025789 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2586060 M 1250 0 1 ARID1A nsv5427268 1 26998003 26999875 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902496 M 3202 1 0 "" nsv6541603 1 27000564 27001212 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251613 M 19652 0 0 "" nsv6542848 1 27007067 27007667 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251614 M 19652 0 0 "" nsv6536192 1 27008214 27009622 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18251615 M 19652 0 0 "" dgv135n223 1 27008544 27009630 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6541541,nsv6552769 M 19652 0 0 "" esv1007463 1 27009901 27014649 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565285 M 3 1 0 "" HuRef nsv6318166 1 27014983 27016606 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060608 M 19652 0 1 "" nsv4460800 1 27021082 27021083 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028913 M 10847 1 0 "" dgv67n106 1 27022200 27024500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1121758,nsv1126186 M 2 0 2 ARID1A KWS1,KWS2 nsv1075762 1 27022399 27024900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772372 M 1 0 1 ARID1A KWP1 nsv950340 1 27022501 27023100 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997105 M 1 0 1 ARID1A BILGI_BIOE nsv950341 1 27024701 27032700 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997106 M 1 1 0 ARID1A BILGI_BIOE nsv4033709 1 27026393 27026484 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849524 M 10847 0 1 ARID1A nsv4032892 1 27028507 27032142 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849525 M 10847 0 1 ARID1A nsv6331119 1 27028507 27032142 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060609 M 19652 0 1 ARID1A nsv5424550 1 27033975 27034997 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902497 M 3202 0 1 ARID1A nsv5962413 1 27034757 27034757 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366472 M 914 1 0 ARID1A nsv5675368 1 27036138 27036138 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205721 M 3202 1 0 ARID1A nsv4046794 1 27036644 27047099 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849526 M 10847 0 1 ARID1A nsv5873076 1 27041138 27043739 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367980 M 914 0 1 ARID1A nsv5829963 1 27041151 27043716 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453232 M 914 0 0 ARID1A nsv1000012 1 27041460 27468019 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700633 M 11257 1 0 ARID1A,C1orf172,FAM46B,GPATCH3,GPN2,NR0B2,NUDC,PIGV,SFN,SLC9A1,TRNP1,ZDHHC18 nsv6551523 1 27042463 27043174 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252234 M 19652 0 0 ARID1A nsv6550432 1 27047247 27047703 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252235 M 19652 0 0 ARID1A nsv6333521 1 27058246 27058897 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060610 M 19652 0 1 ARID1A nsv6042673 1 27064069 27064069 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534768 M 405 1 0 ARID1A nsv6320955 1 27064453 27064843 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060611 M 19652 0 1 ARID1A nsv5872187 1 27067003 27067053 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359577 M 914 0 1 ARID1A nsv5829670 1 27067819 27070342 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463413 M 914 0 0 ARID1A nsv7523 1 27068189 27113031 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8873 M 9 0 1 ARID1A NA12156 nsv4048633 1 27073150 27073256 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849527 M 10847 0 1 ARID1A nsv5420727 1 27073150 27073256 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902498 M 3202 0 1 ARID1A nsv4572763 1 27074958 27074959 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028923 M 10847 1 0 ARID1A nsv1133826 1 27084196 27084268 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982425,nssv3970150 M 2 0 2 ARID1A KWS1,KWS2 nsv4313420 1 27089972 27281573 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789148 M 10847 0 0 ARID1A,C1orf172,GPATCH3,GPN2,NR0B2,NUDC,PIGV,SFN,ZDHHC18 nsv6331897 1 27090123 27091415 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060612 M 19652 0 1 ARID1A nsv6258160 1 27105169 27105169 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17842754 M 1021 1 0 ARID1A nsv4049938 1 27109508 27109582 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849528 M 10847 0 1 "" nsv4042982 1 27112965 27118857 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849529 M 10847 0 1 PIGV nsv6258171 1 27116443 27116443 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17843254 M 1021 1 0 PIGV nsv4051850 1 27122000 27135000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965444 M 10847 1 0 PIGV nsv4052090 1 27124292 27124636 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849530 M 10847 0 1 PIGV nsv820211 1 27127409 27151009 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418692 M 2 0 1 "" AK1 nsv4517529 1 27129953 27130227 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849531 M 10847 0 1 "" nsv5983712 1 27130024 27130304 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531526 M 405 0 1 "" nsv5983713 1 27130207 27130504 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523837 M 405 0 1 "" nsv5575095 1 27130266 27130556 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064458 M 35 0 1 "" HG03371 nsv5983537 1 27130281 27130335 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519762 M 405 0 1 "" nsv4744801 1 27130350 27130447 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289189 M 25 0 1 "" nsv5983498 1 27130357 27130458 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530265 M 405 0 1 "" nsv5983499 1 27130439 27130494 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526272 M 405 0 1 "" nsv5879462 1 27131404 27133454 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354907 M 914 0 1 "" nsv5829671 1 27131524 27133459 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466151 M 914 0 0 "" nsv4045905 1 27132431 27132614 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849533 M 10847 0 1 "" nsv6320381 1 27132532 27134889 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203482 M 19652 1 0 "" dgv136n223 1 27135572 27135908 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6543258,nsv6542405 M 19652 0 0 "" nsv5954994 1 27141122 27141122 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358933 M 914 1 0 "" nsv6049483 1 27141122 27141122 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535584 M 405 1 0 "" nsv4461103 1 27141122 27141123 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028934 M 10847 1 0 "" nsv5683063 1 27141137 27141137 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17190397,nssv17205722 M 3202 2 0 "" nsv6258181 1 27141137 27141137 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17843255 M 1021 1 0 "" nsv5406640 1 27141137 27141188 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902500 M 3202 1 0 "" nsv5427719 1 27142346 27143431 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902501 M 3202 1 0 "" nsv6332202 1 27142367 27143102 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060613 M 19652 0 1 "" nsv4043948 1 27142368 27143091 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849534 M 10847 0 1 "" nsv6320073 1 27142395 27143460 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203483 M 19652 1 0 "" nsv6317662 1 27143194 27147015 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060614 M 19652 0 1 "" nsv6327140 1 27143492 27144791 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203484 M 19652 1 0 "" nsv5983500 1 27144560 27144616 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522454 M 405 0 1 "" nsv5573951 1 27144717 27144766 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064465 M 35 0 1 "" NA20847 nsv5983538 1 27144729 27144780 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521073 M 405 0 1 "" nsv6051085 1 27144760 27144760 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535753 M 405 1 0 "" nsv5983629 1 27144962 27145239 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531090 M 405 0 1 "" nsv6053596 1 27144993 27144993 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533602 M 405 1 0 "" nsv5983714 1 27145027 27145113 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527776 M 405 0 1 "" nsv3535133 1 27145127 27145127 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413840,nssv14383324,nssv14440529 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3929670 1 27145127 27145127 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192280 M 1 1 0 "" HG002 nsv5613892 1 27145127 27145127 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064466,nssv17064467 M 35 2 0 "" HG00731,HG01596 nsv2802071 1 27145128 27145128 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13711374 M 2 1 0 "" nsv3323268 1 27145128 27145128 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480463,nssv14490713,nssv14486068,nssv14472879,nssv14484203,nssv14490709,nssv14478722 M 14 7 0 "" CHM1,CHM13,HG00268,HG00733,HG02059,HX1,NA19240 nsv6052128 1 27145140 27145140 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521128 M 405 1 0 "" nsv4752555 1 27145168 27145168 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16274339 M 25 1 0 "" nsv5983715 1 27145185 27145291 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525945 M 405 0 1 "" nsv6045828 1 27145193 27145193 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527666 M 405 1 0 "" nsv3324172 1 27145238 27145238 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485874 M 14 1 0 "" HG00514 nsv6043925 1 27145320 27145320 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519419 M 405 1 0 "" nsv5606078 1 27145352 27145352 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064468 M 35 1 0 "" HG01114 nsv6053723 1 27145378 27145378 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524523 M 405 1 0 "" nsv5606236 1 27145389 27145389 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064469 M 35 1 0 "" NA20847 esv3664398 1 27146773 27146773 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487162 M 20 1 0 "" nsv6321420 1 27149770 27223880 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060615 M 19652 0 1 GPATCH3,GPN2,SFN,ZDHHC18 nsv4050903 1 27149930 27149992 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849535 M 10847 0 1 "" nsv834524 1 27156675 27320993 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1444307,nssv1444318,nssv1444329,nssv1444340,nssv1444351,nssv1444362,nssv1444373 M 95 2 5 C1orf172,GPATCH3,GPN2,NR0B2,NUDC,SFN,TRNP1,ZDHHC18 nsv4461507 1 27159096 27159097 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028944 M 10847 1 0 ZDHHC18 nsv6328358 1 27162492 27163891 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060616 M 19652 0 1 ZDHHC18 nsv6318883 1 27162992 27164391 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060617 M 19652 0 1 ZDHHC18 nsv5883648 1 27163185 27164095 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364962 M 914 0 1 ZDHHC18 nsv5727449 1 27167787 27167787 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17241527 M 3202 1 0 ZDHHC18 nsv6327091 1 27168404 27170006 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060618 M 19652 0 1 ZDHHC18 nsv6552467 1 27169822 27170115 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252238 M 19652 0 0 ZDHHC18 nsv5829934 1 27173562 27186983 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454912 M 914 0 0 ZDHHC18 nsv4517994 1 27175760 27426678 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965445 M 10847 1 0 C1orf172,FAM46B,GPATCH3,GPN2,NR0B2,NUDC,SFN,SLC9A1,TRNP1,ZDHHC18 nsv7535 1 27183584 27204314 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv9264 M 9 1 0 SFN NA18517 nsv6055134 1 27189149 27189149 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536483 M 405 1 0 "" nsv4461508 1 27189149 27189150 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031034 M 10847 1 0 "" nsv5682036 1 27189164 27189164 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17188914 M 3202 1 0 "" nsv5409508 1 27189164 27189215 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900387 M 3202 1 0 "" nsv5983501 1 27194733 27194795 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519934 M 405 0 1 "" nsv4730859 1 27194736 27194795 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16266584 M 25 0 1 "" nsv5983630 1 27194829 27202710 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17533666 M 405 1 0 "" nsv6319250 1 27195322 27195785 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060619 M 19652 0 1 "" nsv6138353 1 27195411 27195716 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900388 M 3202 0 1 "" nsv4052320 1 27195444 27195716 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849536 M 10847 0 1 "" esv3664401 1 27197397 27197397 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487165 M 20 1 0 "" nsv4461509 1 27204156 27204157 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031045 M 10847 1 0 "" esv3664411 1 27205001 27205001 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487174 M 20 1 0 "" nsv4033251 1 27217457 27218008 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849537 M 10847 0 1 GPATCH3 nsv4535259 1 27219741 27219742 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031053 M 10847 1 0 GPATCH3 nsv4534388 1 27224280 27224281 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031618 M 10847 1 0 GPATCH3 nsv4040536 1 27226326 27230795 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849538 M 10847 0 1 GPATCH3 nsv3224950 1 27229446 27235448 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261132,nssv14261129,nssv14261131,nssv14261130 M 9 4 0 "" HG00512,HG00513,HG00514,NA19238 nsv3521831 1 27230526 27230526 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440530 M 9 1 0 "" HG00733 nsv5606734 1 27230526 27230526 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064487 M 35 1 0 "" HG00731 nsv5949585 1 27230526 27230526 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351245 M 914 1 0 "" nsv6043219 1 27230526 27230526 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518429 M 405 1 0 "" nsv2801169 1 27230527 27230527 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13688812 M 2 1 0 "" nsv3323297 1 27230527 27230527 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14491477,nssv14491402,nssv14486828 M 14 3 0 "" CHM1,HG00268,HG00733 nsv5675187 1 27230540 27230540 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17189856,nssv17205723 M 3202 2 0 "" nsv6327735 1 27231488 27231812 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060620 M 19652 0 1 "" nsv5430614 1 27231743 27245102 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900390 M 3202 0 1 NR0B2 nsv5606827 1 27232142 27232142 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064489,nssv17064490 M 35 2 0 "" HG00512,HG00514 nsv6043634 1 27232142 27232142 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520154 M 405 1 0 "" nsv4533953 1 27232142 27232143 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031268 M 10847 1 0 "" nsv3530284 1 27232150 27232150 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413841 M 9 1 0 "" HG00514 nsv3536856 1 27232162 27232162 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413842 M 9 1 0 "" HG00514 nsv3561654 1 27232162 27232162 CNV sva insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357010,nssv14357009,nssv14357008 M 9 3 0 "" HG00512,HG00513,HG00514 nsv5714859 1 27232162 27232162 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17235962,nssv17246827 M 3202 2 0 "" nsv5559730 1 27232162 27232213 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900391 M 3202 1 0 "" esv3664417 1 27232405 27232405 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487180 M 20 1 0 "" nsv5886802 1 27234030 27234091 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368289 M 914 0 1 "" nsv4051804 1 27234030 27234092 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849539 M 10847 0 1 "" nsv5416232 1 27234030 27234092 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900392 M 3202 0 1 "" nsv5880550 1 27234791 27240702 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349878 M 914 0 1 NR0B2 nsv5829935 1 27234823 27240722 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455338 M 914 0 0 NR0B2 nsv508689 1 27238953 27285997 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv620126 M 4 0 1 C1orf172,NR0B2,NUDC NA15510 nsv5829672 1 27239023 27240022 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468642 M 914 0 0 NR0B2 nsv6320840 1 27241218 27242603 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060621 M 19652 0 1 "" dgv43n166 1 27241463 27241573 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nsv4046936,nsv4048569 M 10847 2 0 "" nsv5869769 1 27243524 27243827 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354216 M 914 0 1 "" nsv6553098 1 27243527 27245262 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252239 M 19652 0 0 "" nsv5417572 1 27243568 27243828 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900393 M 3202 0 1 "" nsv6537364 1 27244310 27244524 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252240 M 19652 0 0 "" nsv6331230 1 27251514 27316517 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060622 M 19652 0 1 C1orf172,NUDC nsv5605992 1 27253678 27253678 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064496 M 35 1 0 NUDC HG00732 nsv6042218 1 27253678 27253678 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531150 M 405 1 0 NUDC nsv5418490 1 27253678 27253820 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900394 M 3202 1 0 NUDC nsv6043085 1 27253742 27253742 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521668 M 405 1 0 NUDC esv1159948 1 27253775 27253775 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4022881 M 2 1 0 NUDC HuRef nsv6056913 1 27253803 27253803 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523755 M 405 1 0 NUDC esv3664423 1 27253890 27253890 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487185 M 20 1 0 NUDC nsv6327394 1 27254117 27260096 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060623 M 19652 0 1 NUDC nsv5432821 1 27257376 27258087 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900396 M 3202 0 1 NUDC nsv3208949 1 27257946 27258226 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356801,nssv14356800 M 9 0 2 NUDC HG00513,HG00731 nsv4050846 1 27258326 27262874 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965448 M 10847 1 0 NUDC nsv5871889 1 27258339 27262841 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17350220 M 914 1 0 NUDC nsv6319993 1 27258339 27262842 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203488 M 19652 1 0 NUDC nsv5829936 1 27258372 27262085 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462390 M 914 0 0 NUDC nsv4043612 1 27258821 27260025 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965449 M 10847 1 0 NUDC nsv6325386 1 27258861 27260134 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203489 M 19652 1 0 NUDC nsv5425390 1 27259002 27260035 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900397 M 3202 0 1 NUDC nsv6541128 1 27259481 27260638 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252241 M 19652 0 0 NUDC nsv1126984 1 27260024 27260093 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985274 M 2 0 1 NUDC KWS1 nsv6324989 1 27260049 27262761 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060624 M 19652 0 1 NUDC nsv5983544 1 27262834 27263212 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523267 M 405 0 1 NUDC nsv4737856 1 27265561 27267488 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268255 M 25 0 1 NUDC nsv6548830 1 27265693 27265900 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252242 M 19652 0 0 NUDC nsv5726543 1 27266370 27266370 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17239349,nssv17235478 M 3202 2 0 NUDC nsv4040650 1 27278998 27279080 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965450 M 10847 1 0 C1orf172 nsv6057322 1 27281372 27281372 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536894 M 405 1 0 C1orf172 nsv6323171 1 27284589 27284906 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060625 M 19652 0 1 C1orf172 nsv4461510 1 27287107 27287108 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031277 M 10847 1 0 "" nsv4518355 1 27287535 27288062 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849540 M 10847 0 1 "" nsv1146291 1 27287659 27288055 CNV deletion John_et_al_2014 26484159 Sequencing nssv3999492 M 1 0 1 "" KWB1 nsv5576696 1 27287667 27288061 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064378 M 35 0 1 "" NA19983 nsv5878928 1 27287667 27288061 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353891 M 914 0 1 "" esv2671514 1 27287667 27288062 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5418416,essv5680263,essv5812587,essv6426336,essv5636100,essv6286697,essv6055621,essv6317538,essv5799790,essv6108865,essv6084185,essv6330238,essv6041653,essv6050516,essv6498050,essv5633661,essv5996080,essv5626743,essv6142312,essv6376934,essv6188311,essv5486119,essv5506767,essv6248633,essv5922137,essv6100320,essv6509461,essv5867432,essv5860587,essv6531659,essv5935073,essv6572899,essv6578635,essv6283118,essv6548667,essv5674645,essv6094520,essv6530760,essv5495486,essv6188587,essv5708963,essv5882293,essv6312555,essv6390557,essv6207800,essv5623078,essv6338259,essv5426638,essv5806053,essv6126844,essv6341931,essv6597925,essv6071216,essv5827975,essv6405738,essv6541642,essv5559363,essv5911882,essv5459836,essv5797781,essv6127615,essv6042012,essv6594541,essv6487371,essv6152808,essv5997698,essv6174480,essv5693358,essv5545135,essv6371698 M 1151 0 70 "" HG00640,HG00641,HG01048,HG01067,HG01070,HG01083,HG01125,NA11831,NA12751,NA18486,NA18498,NA18502,NA18507,NA18508,NA18516,NA18517,NA18519,NA18522,NA18542,NA18858,NA18908,NA18909,NA18947,NA18956,NA18960,NA18967,NA18971,NA18981,NA19092,NA19093,NA19114,NA19116,NA19137,NA19144,NA19152,NA19159,NA19171,NA19172,NA19197,NA19201,NA19204,NA19209,NA19223,NA19328,NA19346,NA19350,NA19355,NA19359,NA19372,NA19373,NA19376,NA19384,NA19385,NA19393,NA19395,NA19399,NA19403,NA19404,NA19439,NA19449,NA19453,NA19456,NA19466,NA19761,NA19900,NA19908,NA19909,NA19921,NA19982,NA20282 nsv6331136 1 27287667 27288062 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060626 M 19652 0 1 "" nsv5417326 1 27287669 27288062 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900398 M 3202 0 1 "" nsv6332259 1 27288599 27291828 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060627 M 19652 0 1 "" nsv6548300 1 27296208 27300720 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252243 M 19652 0 0 "" nsv6315649 1 27300727 27305284 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060628 M 19652 0 1 "" nsv5430054 1 27301323 27301745 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900399 M 3202 0 1 "" nsv6317819 1 27301447 27301750 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060629 M 19652 0 1 "" nsv945844 1 27302048 27313370 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1765304,nssv1766418,nssv1765325,nssv1766402,nssv1765322,nssv1766413,nssv1765315,nssv1766391,nssv1765336,nssv1766440,nssv1766432,nssv1766448,nssv1766431,nssv1766443,nssv1765331,nssv1766420,nssv1766388,nssv1766409,nssv1765319,nssv1766394,nssv1765327,nssv1766399,nssv1765324,nssv1766439,nssv1766438,nssv1766403,nssv1766433,nssv1766445,nssv1765317,nssv1766415,nssv1765338,nssv1766428,nssv1766389,nssv1766392,nssv1765333,nssv1766421,nssv1765337,nssv1766427,nssv1765334,nssv1766423,nssv1765311,nssv1766446,nssv1765332,nssv1766396,nssv1766429,nssv1766408,nssv1766436,nssv1766425,nssv1765316,nssv1766397,nssv1765328,nssv1766405,nssv1766430,nssv1766422,nssv1765326,nssv1766424,nssv1765339,nssv1766404,nssv1765335,nssv1766400,nssv1765329,nssv1766426,nssv1765312,nssv1766395,nssv1765320,nssv1766390,nssv1765318,nssv1766398,nssv1765308,nssv1766416,nssv1765323,nssv1766410,nssv1766435,nssv1766407,nssv1766434,nssv1766441,nssv1765321,nssv1766444,nssv1765309,nssv1766411,nssv1765310,nssv1766419,nssv1765330,nssv1766393,nssv1765314,nssv1766447,nssv1765307,nssv1766401,nssv1766437,nssv1766406,nssv1765313,nssv1766417,nssv1765306,nssv1766414,nssv1765305,nssv1766442,nssv1766412 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6335090 1 27302692 27305291 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060630 M 19652 0 1 "" esv3585550 1 27302813 27306659 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894199,essv9894198 M 2504 0 2 "" HG02976,HG03097 nsv5829812 1 27302876 27306376 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460782 M 914 0 0 "" nsv5876656 1 27302910 27306348 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359475 M 914 0 1 "" nsv5417145 1 27302928 27306363 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900400 M 3202 0 1 "" nsv4035535 1 27302955 27306349 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849541 M 10847 0 1 "" nsv6052651 1 27303792 27303792 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530997 M 405 1 0 "" nsv5878697 1 27304772 27306879 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359263 M 914 0 1 "" nsv6551853 1 27306586 27307079 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252244 M 19652 0 0 "" nsv1122313 1 27308939 27309004 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970521 M 2 0 1 "" KWS2 nsv6058786 1 27315353 27315353 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535377 M 405 1 0 "" nsv6543572 1 27315592 27315840 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252245 M 19652 0 0 "" nsv5829813 1 27317111 27318610 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464007 M 914 0 0 "" nsv5877154 1 27318817 27319161 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361432 M 914 0 1 "" nsv4535523 1 27322816 27322817 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031285 M 10847 1 0 TRNP1 nsv6319405 1 27324241 27325714 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060631 M 19652 0 1 TRNP1 nsv4730753 1 27328976 27329159 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16262386 M 25 0 1 "" nsv5983720 1 27329049 27329150 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520030 M 405 0 1 "" esv3585551 1 27329988 27356982 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894200 M 2504 1 0 FAM46B HG00368 nsv5429269 1 27329988 27357023 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900402 M 3202 1 0 FAM46B nsv4043284 1 27331263 27331327 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849542 M 10847 0 1 "" nsv834535 1 27333076 27506417 CNV gain+loss Wong_et_al_2007 17160897 BAC aCGH nssv1444384,nssv1444395 M 95 1 1 FAM46B,SLC9A1 esv3664430 1 27335105 27335105 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487191 M 20 1 0 FAM46B nsv5983639 1 27339980 27340075 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535946 M 405 0 1 "" nsv6328876 1 27340093 27341571 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060632 M 19652 0 1 "" nsv6326031 1 27342270 27416900 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203490 M 19652 1 0 "" nsv4033396 1 27342283 27416927 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965451 M 10847 1 0 "" nsv4043768 1 27342837 27342979 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849543 M 10847 0 1 "" nsv1005755 1 27346777 27424893 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3481726 M 11257 1 0 "" esv2763082 1 27348943 27408134 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7022410 M 1109 1 0 "" SW_0113 nsv3215048 1 27348990 27357695 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261152,nssv14261153,nssv14261151,nssv14261149,nssv14261155,nssv14261154,nssv14261150 M 9 7 0 "" HG00512,HG00513,HG00731,HG00732,NA19238,NA19239,NA19240 nsv4517796 1 27349205 27350242 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849544 M 10847 0 1 "" nsv5983506 1 27350120 27350230 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536265 M 405 0 1 "" nsv6535591 1 27350335 27350593 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252246 M 19652 0 0 "" nsv4048810 1 27350650 27356117 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849545 M 10847 0 1 "" nsv5420192 1 27352572 27361416 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900403 M 3202 0 1 "" nsv4570482 1 27355654 27355655 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031293 M 10847 1 0 "" nsv5719260 1 27355674 27355674 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17245934 M 3202 1 0 "" nsv5562000 1 27355674 27355725 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900405 M 3202 1 0 "" nsv4040551 1 27356216 27356472 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849546 M 10847 0 1 "" nsv4534609 1 27356397 27356398 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031301 M 10847 1 0 "" nsv3520701 1 27356977 27356977 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440531,nssv14376757,nssv14413843 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3936852 1 27356977 27356977 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192281 M 1 1 0 "" HG002 nsv4444705 1 27356977 27356977 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761430 M 1 1 0 "" nsv5616016 1 27356977 27356977 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064383 M 35 1 0 "" HG00731 nsv6053209 1 27356977 27356977 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524602 M 405 1 0 "" nsv2801807 1 27356978 27356978 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13708653 M 2 1 0 "" nsv3051699 1 27356978 27356978 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14024250 M 2 1 0 "" NA12878 nsv3323326 1 27356978 27356978 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14484227,nssv14484748,nssv14479675,nssv14476048,nssv14487846,nssv14485005,nssv14475655,nssv14489210,nssv14479126,nssv14486507,nssv14473605,nssv14485693,nssv14474893 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv5983722 1 27356978 27357097 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17525931 M 405 1 0 "" nsv4764356 1 27356986 27356986 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16267751 M 25 1 0 "" nsv3058853 1 27356987 27356987 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032479 M 2 1 0 "" CHM1 nsv955114 1 27357031 27357312 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000523 M 1 0 1 "" BILGI_BIOE nsv4048388 1 27357483 27367185 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965452 M 10847 1 0 "" esv2745719 1 27359255 27359475 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6902553,essv6769535 M 96 0 2 "" SSM013,SSM065 nsv5884081 1 27359349 27359483 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365901 M 914 0 1 "" nsv5983545 1 27359356 27359491 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532442 M 405 0 1 "" nsv4740901 1 27359364 27359496 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259689 M 25 0 1 "" nsv5420333 1 27359384 27359466 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900408 M 3202 0 1 "" nsv4433109 1 27362838 27363812 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15746772 M 15 0 1 "" SMI018 nsv5423540 1 27363856 27367215 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900409 M 3202 1 0 "" nsv6328835 1 27363875 27367209 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203491 M 19652 1 0 "" nsv5829814 1 27363912 27366457 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468617 M 914 0 0 "" nsv5983723 1 27365032 27370668 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519782 M 405 0 1 "" esv3664435 1 27367158 27367158 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487196 M 20 1 0 "" nsv545909 1 27367693 27403974 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712044 M 17421 0 1 "" nsv5686725 1 27369507 27369507 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17189548 M 3202 1 0 "" nsv5983640 1 27369994 27370761 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529196 M 405 0 1 "" nsv6327588 1 27370908 27373499 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060633 M 19652 0 1 "" nsv4461859 1 27371460 27371461 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031309 M 10847 1 0 "" nsv6051715 1 27371466 27371466 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529299 M 405 1 0 "" nsv6316290 1 27374202 27374873 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060634 M 19652 0 1 "" nsv6327298 1 27375412 27379025 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203492 M 19652 1 0 "" nsv5829815 1 27376692 27378727 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451113,nssv17455248 M 914 0 0 "" nsv4537223 1 27376841 27376842 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031319 M 10847 1 0 "" nsv5887192 1 27377402 27378683 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356381 M 914 0 1 "" nsv5829816 1 27377428 27378727 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459390,nssv17466852 M 914 0 0 "" nsv4035058 1 27377440 27378678 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849548 M 10847 0 1 "" nsv4040232 1 27384019 27384101 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849549 M 10847 0 1 "" nsv4045401 1 27386415 27386498 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849550 M 10847 0 1 "" nsv5428255 1 27387281 27394560 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900410 M 3202 0 1 "" nsv6329977 1 27387357 27407025 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060635 M 19652 0 1 "" nsv4036811 1 27387613 27399657 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849551 M 10847 0 1 "" nsv5870938 1 27388698 27388787 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17363459 M 914 1 0 "" nsv6318875 1 27388719 27389169 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060636 M 19652 0 1 "" nsv5983546 1 27389634 27392255 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17523869 M 405 1 0 "" nsv4050400 1 27389714 27392330 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965453 M 10847 1 0 "" nsv5983547 1 27390423 27390504 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522590 M 405 0 1 "" nsv5621919 1 27390939 27390939 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064384 M 35 1 0 "" NA19983 nsv5983548 1 27391211 27391338 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535705 M 405 0 1 "" nsv5876620 1 27394432 27394727 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353646 M 914 0 1 "" nsv509058 1 27395339 27435856 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623778 M 4 1 0 SLC9A1 NA18994 nsv5614971 1 27399343 27399343 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064385 M 35 1 0 "" HG02011 nsv3210537 1 27400938 27434161 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261670,nssv14261668,nssv14261673,nssv14261666,nssv14261671,nssv14261665,nssv14261667,nssv14261669,nssv14261672 M 9 9 0 SLC9A1 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv5868002 1 27401692 27402109 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356117 M 914 0 1 "" nsv6317536 1 27402192 27404791 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203493 M 19652 1 0 "" nsv4517466 1 27402228 27404967 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965454 M 10847 1 0 "" nsv5869396 1 27402622 27404028 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349759 M 914 0 1 "" nsv4044352 1 27402658 27404159 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965455 M 10847 1 0 "" nsv5829964 1 27402935 27403967 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458772 M 914 0 0 "" nsv4745010 1 27404009 27404067 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16272651 M 25 0 1 "" nsv5983641 1 27404023 27404083 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520036 M 405 0 1 "" nsv4738209 1 27405670 27405857 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16285159 M 25 0 1 "" nsv5983642 1 27405718 27405882 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532577 M 405 0 1 "" nsv6318893 1 27406492 27407691 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060637 M 19652 0 1 "" nsv4033532 1 27407307 27409418 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849552 M 10847 0 1 "" nsv4040915 1 27407415 27408025 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965456 M 10847 1 0 "" nsv5956612 1 27407594 27407594 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366955 M 914 1 0 "" nsv3536133 1 27408853 27408853 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413844,nssv14440532 M 9 2 0 "" HG00514,HG00733 nsv3227066 1 27408853 27452526 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14270783 M 9 1 0 SLC9A1 NA19240 nsv5829817 1 27410218 27411517 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458642 M 914 0 0 "" nsv5983643 1 27411521 27411587 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530317 M 405 0 1 "" esv2498789 1 27412765 27413175 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5196385 M 1 1 0 "" NA18507 nsv3531007 1 27412986 27412986 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385888,nssv14413845,nssv14440533 M 9 3 0 "" HG00514,HG00733,NA19240 nsv3953327 1 27412986 27412986 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192282 M 1 1 0 "" HG002 nsv4444706 1 27412986 27412986 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759194 M 1 1 0 "" nsv5613220 1 27412986 27412986 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064386 M 35 1 0 "" HG00731 nsv6049686 1 27412986 27412986 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521607 M 405 1 0 "" esv3674711 1 27412986 27412987 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496443 M 20 0 0 "" nsv5983724 1 27412986 27413567 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17523582 M 405 1 0 "" nsv2801905 1 27412987 27412987 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694629,nssv13695014 M 2 2 0 "" nsv3323327 1 27412987 27412987 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479176,nssv14483428,nssv14490977,nssv14491429,nssv14483819,nssv14491126,nssv14477898,nssv14477178,nssv14481473,nssv14482774,nssv14473976,nssv14475116,nssv14483268,nssv14482822 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4758653 1 27412988 27412988 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16264353 M 25 1 0 "" nsv3065747 1 27412991 27412991 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14036430 M 2 1 0 "" CHM1 nsv3200798 1 27412991 27413231 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356844 M 9 0 1 "" HG00731 nsv3051700 1 27412992 27412992 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020040 M 2 1 0 "" NA12878 nsv4517358 1 27413348 27413398 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849553 M 10847 0 1 "" nsv6324868 1 27419021 27426850 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060638 M 19652 0 1 SLC9A1 esv3664454 1 27423558 27423558 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487212 M 20 1 0 "" nsv5728937 1 27424314 27424314 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17251586 M 3202 1 0 "" esv3336032 1 27433517 27433717 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652079 M 185 1 0 SLC9A1 NA19240 nsv3200918 1 27433580 27434577 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14356879,nssv14356880,nssv14356881 M 9 0 3 SLC9A1 HG00514,HG00731,HG00732 nsv5983549 1 27433599 27433894 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17536955 M 405 1 0 SLC9A1 nsv4760635 1 27433627 27433627 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16292880 M 25 1 0 SLC9A1 nsv3051701 1 27433701 27433701 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14024822 M 2 1 0 SLC9A1 NA12878 nsv6044179 1 27433706 27433706 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520647 M 405 1 0 SLC9A1 nsv4444707 1 27433707 27433707 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766685 M 1 1 0 SLC9A1 nsv3542937 1 27433711 27433711 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413846,nssv14440534,nssv14387845 M 9 3 0 SLC9A1 HG00514,HG00733,NA19240 nsv3926234 1 27433711 27433711 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192284 M 1 1 0 SLC9A1 HG002 nsv5611963 1 27433711 27433711 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064387 M 35 1 0 SLC9A1 HG00731 nsv5954674 1 27433711 27433711 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17358262 M 914 1 0 SLC9A1 nsv2801808 1 27433712 27433712 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686596,nssv13684853 M 2 2 0 SLC9A1 nsv3323328 1 27433712 27433712 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472708,nssv14473750,nssv14478589,nssv14473517,nssv14473575,nssv14484561,nssv14486615,nssv14490617,nssv14482715,nssv14479028,nssv14483537,nssv14479639,nssv14486757,nssv14483588 M 14 14 0 SLC9A1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3056799 1 27433713 27433713 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019172 M 2 1 0 SLC9A1 CHM1 nsv4034232 1 27441945 27442068 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849554 M 10847 0 1 SLC9A1 nsv6330034 1 27446835 27452247 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060639 M 19652 0 1 SLC9A1 nsv5421185 1 27459525 27459582 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900416 M 3202 1 0 SLC9A1 nsv4533205 1 27462442 27462443 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031337 M 10847 1 0 SLC9A1 nsv5829673 1 27464760 27466359 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453308 M 914 0 0 SLC9A1 esv28309 1 27464813 27466118 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv14516 M 40 0 2 SLC9A1 NA19108,NA19114 esv3585552 1 27464860 27466139 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894206,essv9894204,essv9894201,essv9894203,essv9894210,essv9894205,essv9894211,essv9894202,essv9894208,essv9894215,essv9894207,essv9894216,essv9894209,essv9894214,essv9894213,essv9894212 M 2504 0 16 SLC9A1 HG01390,HG01915,HG02429,HG02439,HG02476,HG03460,HG03558,HG03575,HG03577,NA19108,NA19114,NA19375,NA19431,NA19439,NA19461,NA19922 nsv5886725 1 27464868 27466107 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357162 M 914 0 1 SLC9A1 esv2659298 1 27464868 27466108 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5426497,essv5916469,essv5944633,essv6044840,essv5731995,essv5745283,essv6572730 M 1151 0 7 SLC9A1 HG01390,NA19108,NA19114,NA19375,NA19431,NA19439,NA19461 nsv6335432 1 27464868 27466108 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060640 M 19652 0 1 SLC9A1 nsv4042836 1 27464870 27466108 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849555 M 10847 0 1 SLC9A1 nsv5419195 1 27464870 27466108 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900418 M 3202 0 1 SLC9A1 nsv4041927 1 27470688 27470866 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849556 M 10847 0 1 SLC9A1 nsv5424026 1 27470688 27470866 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900419 M 3202 0 1 SLC9A1 nsv4043468 1 27481336 27481406 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849557 M 10847 0 1 SLC9A1 nsv4043728 1 27484580 27484728 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849559 M 10847 0 1 "" nsv6550810 1 27485142 27485527 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252247 M 19652 0 0 "" dgv44n166 1 27486974 27491543 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4039208,nsv4051341 M 10847 0 2 "" nsv5953044 1 27486982 27486982 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350603 M 914 1 0 "" esv1220296 1 27487003 27487650 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3949051 M 2 0 1 "" HuRef nsv3201732 1 27487284 27487910 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357557 M 9 0 1 "" NA19239 nsv5429883 1 27487322 27491543 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900420 M 3202 0 1 "" esv2666973 1 27487343 27491650 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5947985 M 1151 0 1 "" HG00500 esv3585553 1 27487361 27491617 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894217 M 2504 0 1 "" HG00500 nsv5983507 1 27487399 27487482 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523894 M 405 0 1 "" nsv471845 1 27488456 27488456 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014776 M 9 1 0 "" NA18555 nsv945846 1 27490825 27537798 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757042,nssv1757029,nssv1766459,nssv1757053,nssv1766452,nssv1757024,nssv1766458,nssv1766502,nssv1766451,nssv1766501,nssv1766450,nssv1757032,nssv1766469,nssv1757047,nssv1766479,nssv1757045,nssv1766468,nssv1766510,nssv1766478,nssv1766509,nssv1757043,nssv1757048,nssv1766480,nssv1766490,nssv1766449,nssv1766511,nssv1766454,nssv1766514,nssv1757037,nssv1766499,nssv1757035,nssv1757031,nssv1757039,nssv1766503,nssv1766457,nssv1757026,nssv1766477,nssv1757027,nssv1757034,nssv1757028,nssv1766471,nssv1757051,nssv1766460,nssv1766498,nssv1766472,nssv1757030,nssv1766484,nssv1766506,nssv1766482,nssv1757046,nssv1766467,nssv1766494,nssv1766464,nssv1766488,nssv1766473,nssv1757033,nssv1766465,nssv1757049,nssv1766485,nssv1766515,nssv1766461,nssv1766504,nssv1766463,nssv1757052,nssv1766455,nssv1766512,nssv1766466,nssv1766500,nssv1766456,nssv1766491,nssv1766476,nssv1766496,nssv1766474,nssv1766513,nssv1766475,nssv1766497,nssv1757040,nssv1766489,nssv1757038,nssv1766507,nssv1757036,nssv1757044,nssv1766481,nssv1757025,nssv1757041,nssv1766495,nssv1766470,nssv1766492,nssv1766453,nssv1766493,nssv1766483,nssv1766508,nssv1766462,nssv1757050,nssv1766486,nssv1766487,nssv1766505 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5610439 1 27490875 27490875 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064388 M 35 1 0 "" HG03065 nsv4537067 1 27490875 27490876 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031348 M 10847 1 0 "" nsv5395082 1 27490889 27490940 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900422 M 3202 1 0 "" nsv5679331 1 27492313 27492313 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205724,nssv17191125 M 3202 2 0 "" nsv6258260 1 27492313 27492313 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17843256 M 1021 1 0 "" nsv6554145 1 27494315 27494896 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252248 M 19652 0 0 "" nsv6323417 1 27494478 27496979 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060641 M 19652 0 1 "" nsv6544533 1 27495022 27496044 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252249 M 19652 0 0 "" nsv6550908 1 27495431 27495531 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252250 M 19652 0 0 "" nsv6537723 1 27497839 27498311 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252251 M 19652 0 0 "" nsv6328514 1 27500222 27501638 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060642 M 19652 0 1 "" nsv6320690 1 27501405 27502329 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060643 M 19652 0 1 "" nsv6316076 1 27501589 27508001 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203494 M 19652 1 0 "" nsv5416251 1 27501719 27502040 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900425 M 3202 0 1 "" esv3585554 1 27501932 27515855 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894218 M 2504 0 1 "" NA19726 nsv5417601 1 27502007 27515597 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900426 M 3202 0 1 "" esv2671524 1 27502034 27515688 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5398043 M 1151 0 1 "" NA19726 nsv6331672 1 27504631 27513511 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203495 M 19652 1 0 "" nsv6547727 1 27507553 27508443 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252252 M 19652 0 0 "" nsv1145327 1 27507925 27507981 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982426 M 2 0 1 "" KWS1 nsv6550354 1 27507990 27508384 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252253 M 19652 0 0 "" nsv1126985 1 27508338 27508403 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985275 M 2 0 1 "" KWS1 nsv5684710 1 27510887 27510887 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17190048 M 3202 1 0 "" nsv5400584 1 27510887 27510938 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900428 M 3202 1 0 "" nsv4565323 1 27511890 27511891 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031356 M 10847 1 0 "" nsv5719396 1 27511905 27511905 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17239816,nssv17245689 M 3202 2 0 "" nsv6330439 1 27512948 27524130 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060644 M 19652 0 1 "" nsv4049927 1 27515281 27515390 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965457 M 10847 1 0 "" nsv6536680 1 27516431 27516821 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252254 M 19652 0 0 "" nsv4035355 1 27516599 27516680 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849562 M 10847 0 1 "" nsv4537171 1 27518866 27518867 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031363 M 10847 1 0 "" nsv6329760 1 27520595 27523078 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060645 M 19652 0 1 "" nsv5983508 1 27521230 27521311 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525202 M 405 0 1 "" nsv6327086 1 27523683 27532284 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203496 M 19652 1 0 "" nsv1120070 1 27528434 27528663 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3960812 M 2 0 0 "" KWS1 esv3585555 1 27530011 27536466 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894223,essv9894221,essv9894220,essv9894219,essv9894222 M 2504 0 5 "" HG02721,HG02807,HG03095,HG03428,HG03470 nsv4049666 1 27530013 27536457 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849563 M 10847 0 1 "" nsv5416160 1 27530013 27536457 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900430 M 3202 0 1 "" nsv6317128 1 27530013 27536457 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060646 M 19652 0 1 "" nsv6545600 1 27531109 27532095 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252255 M 19652 0 0 "" nsv4566431 1 27533719 27533720 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031371 M 10847 1 0 "" nsv6326255 1 27538102 27539297 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060647 M 19652 0 1 "" esv3585556 1 27539700 27558142 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894224 M 2504 0 1 "" HG03742 nsv5419833 1 27539783 27558051 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900432 M 3202 0 1 "" nsv1010793 1 27541214 27608518 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3475703,nssv3477431 M 11257 2 0 WDTC1 nsv6545950 1 27541317 27542090 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252256 M 19652 0 0 "" esv3683076 1 27543222 27543356 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467845 M 20 0 1 "" nsv6546662 1 27544811 27545064 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252257 M 19652 0 0 "" esv3585557 1 27545432 27549914 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894226,essv9894225,essv9894229,essv9894228,essv9894230,essv9894227 M 2504 0 6 "" HG03643,NA20896,NA20911,NA21110,NA21114,NA21125 nsv5424766 1 27545565 27549784 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900433 M 3202 0 1 "" nsv5433312 1 27550818 27552161 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900434 M 3202 0 1 "" nsv5884358 1 27551775 27551991 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354389 M 914 0 1 "" nsv6258371 1 27552784 27552784 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17843291 M 1021 1 0 "" dgv137n223 1 27556676 27557014 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6538654,nsv6538624 M 19652 0 0 "" esv3668014 1 27557101 27557229 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490416 M 20 0 0 "" nsv6325915 1 27558143 27558614 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060648 M 19652 0 1 "" nsv5966819 1 27559848 27559848 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357135 M 914 1 0 "" nsv5677084 1 27559876 27559876 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205725,nssv17190087 M 3202 2 0 "" nsv6258482 1 27559876 27559876 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17843346 M 1021 1 0 "" nsv6551540 1 27563334 27564118 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252260 M 19652 0 0 WDTC1 nsv6320279 1 27563598 27577609 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203497 M 19652 1 0 WDTC1 nsv6327603 1 27565352 27569180 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060649 M 19652 0 1 WDTC1 nsv6537239 1 27565505 27565829 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252261 M 19652 0 0 WDTC1 nsv6554951 1 27565615 27566181 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252262 M 19652 0 0 WDTC1 esv3664475 1 27566008 27566008 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487231 M 20 1 0 WDTC1 nsv5424743 1 27569256 27576848 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900435 M 3202 0 1 WDTC1 nsv4047974 1 27569708 27570573 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849564 M 10847 0 1 WDTC1 nsv6330956 1 27571316 27572495 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060650 M 19652 0 1 WDTC1 nsv5573975 1 27571330 27572365 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064389 M 35 0 1 WDTC1 HG02587 esv2665584 1 27571330 27572366 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5524500,essv6091461,essv5573274,essv5563340,essv5882481,essv5770268,essv6168864,essv5730220,essv5556556,essv6401614,essv5494353,essv6566921,essv5833299,essv6024848,essv5973720,essv6478667,essv6571527,essv5911852,essv5966725,essv6038244,essv6286247,essv5476047,essv5883640 M 1151 0 23 WDTC1 HG01137,NA18487,NA18867,NA19093,NA19235,NA19247,NA19346,NA19355,NA19359,NA19371,NA19380,NA19395,NA19396,NA19397,NA19429,NA19430,NA19434,NA19435,NA19437,NA19444,NA19451,NA19452,NA19468 nsv5882230 1 27571330 27572494 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364136 M 914 0 1 WDTC1 nsv5428488 1 27571382 27572492 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900436 M 3202 0 1 WDTC1 esv3585558 1 27571409 27572444 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894272,essv9894300,essv9894266,essv9894234,essv9894309,essv9894255,essv9894235,essv9894308,essv9894261,essv9894236,essv9894305,essv9894249,essv9894233,essv9894304,essv9894269,essv9894232,essv9894306,essv9894259,essv9894231,essv9894298,essv9894264,essv9894299,essv9894256,essv9894301,essv9894246,essv9894310,essv9894263,essv9894302,essv9894247,essv9894307,essv9894254,essv9894303,essv9894270,essv9894239,essv9894250,essv9894237,essv9894260,essv9894240,essv9894267,essv9894242,essv9894252,essv9894245,essv9894268,essv9894244,essv9894251,essv9894243,essv9894248,essv9894238,essv9894253,essv9894241,essv9894257,essv9894284,essv9894262,essv9894295,essv9894258,essv9894280,essv9894265,essv9894288,essv9894271,essv9894290,essv9894277,essv9894289,essv9894274,essv9894279,essv9894294,essv9894287,essv9894292,essv9894297,essv9894283,essv9894296,essv9894285,essv9894273,essv9894275,essv9894291,essv9894281,essv9894293,essv9894278,essv9894282,essv9894286,essv9894276 M 2504 0 80 WDTC1 HG01058,HG01137,HG01183,HG01272,HG01412,HG01507,HG01879,HG01886,HG02304,HG02332,HG02427,HG02439,HG02442,HG02462,HG02470,HG02546,HG02583,HG02585,HG02595,HG02621,HG02629,HG02860,HG02891,HG02923,HG02946,HG02947,HG03025,HG03054,HG03120,HG03127,HG03136,HG03166,HG03172,HG03189,HG03258,HG03311,HG03370,HG03372,HG03388,HG03397,HG03479,HG03514,NA18508,NA18865,NA18867,NA18874,NA18916,NA19020,NA19025,NA19027,NA19030,NA19035,NA19037,NA19042,NA19093,NA19143,NA19152,NA19204,NA19207,NA19223,NA19235,NA19247,NA19318,NA19328,NA19332,NA19346,NA19355,NA19380,NA19395,NA19397,NA19429,NA19430,NA19434,NA19435,NA19437,NA19438,NA19451,NA19452,NA19468,NA20346 nsv6326916 1 27571505 27572516 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203498 M 19652 1 0 WDTC1 nsv5983550 1 27571514 27572367 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533298 M 405 0 1 WDTC1 nsv6326495 1 27574345 27579543 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060651 M 19652 0 1 WDTC1 nsv6547567 1 27575176 27575441 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252263 M 19652 0 0 WDTC1 nsv5878122 1 27576165 27579138 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361153 M 914 0 1 WDTC1 nsv5829818 1 27576219 27579055 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466660 M 914 0 0 WDTC1 nsv5432375 1 27576744 27579223 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900437 M 3202 0 1 WDTC1 nsv5562151 1 27576745 27579225 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900438 M 3202 0 0 WDTC1 nsv5829819 1 27578956 27580147 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460218 M 914 0 0 WDTC1 nsv5983551 1 27579822 27579956 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531604 M 405 0 1 WDTC1 nsv5723808 1 27580202 27580202 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17240012,nssv17252923 M 3202 2 0 WDTC1 nsv5563196 1 27580202 27580253 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900439 M 3202 1 0 WDTC1 nsv4034417 1 27580403 27583047 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849565 M 10847 0 1 WDTC1 nsv6325157 1 27580403 27583047 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060652 M 19652 0 1 WDTC1 nsv6541492 1 27590055 27590798 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252264 M 19652 0 0 WDTC1 nsv6542676 1 27591420 27592023 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252265 M 19652 0 0 WDTC1 nsv5421654 1 27592458 27595380 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900440 M 3202 0 1 WDTC1 nsv1133827 1 27595629 27595714 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970151 M 2 0 1 WDTC1 KWS2 dgv138n223 1 27597003 27597849 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6544690,nsv6536549 M 19652 0 0 WDTC1 nsv6547577 1 27598296 27598510 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252268 M 19652 0 0 WDTC1 nsv5983552 1 27598491 27598592 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526432 M 405 0 1 WDTC1 nsv1119670 1 27598556 27598606 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982117 M 2 0 1 WDTC1 KWS1 nsv6330831 1 27599592 27605391 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060653 M 19652 0 1 WDTC1 nsv4048299 1 27602000 27615000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965458 M 10847 1 0 WDTC1 nsv6555178 1 27604409 27605313 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252269 M 19652 0 0 WDTC1 nsv526051 1 27610746 27772009 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv702288 M 2026 1 0 CD164L2,FCN3,GPR3,LOC644961,MAP3K6,SYTL1,TMEM222,WASF2,WDTC1 nsv6330324 1 27611468 27612971 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203499 M 19652 1 0 WDTC1 nsv1122314 1 27613418 27613471 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970522 M 2 0 1 WDTC1 KWS2 nsv5983644 1 27615467 27615520 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533558 M 405 0 1 WDTC1 nsv5608150 1 27620141 27620141 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064390 M 35 1 0 WDTC1 HG01596 nsv5612733 1 27620324 27620324 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064391 M 35 1 0 WDTC1 HG01596 nsv6322086 1 27628702 27629040 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060654 M 19652 0 1 WDTC1 nsv5429547 1 27632563 28327890 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900441 M 3202 0 1 AHDC1,CD164L2,EYA3,FAM76A,FCN3,FGR,GPR3,IFI6,LOC644961,MAP3K6,PPP1R8,RPA2,SCARNA1,SMPDL3B,STX12,SYTL1,THEMIS2,TMEM222,WASF2,WDTC1,XKR8 nsv4557350 1 27635143 27635144 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031381 M 10847 1 0 "" nsv3198512 1 27635469 27636140 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357603 M 9 0 1 "" HG00513 nsv6056853 1 27637204 27637204 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531043 M 405 1 0 "" nsv5422999 1 27637909 27643002 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900442 M 3202 1 0 "" nsv945849 1 27638231 27640914 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757056,nssv1757113,nssv1757064,nssv1757145,nssv1757055,nssv1757147,nssv1757063,nssv1757095,nssv1757139,nssv1757093,nssv1757057,nssv1757094,nssv1757080,nssv1757141,nssv1757083,nssv1757108,nssv1757067,nssv1757104,nssv1757066,nssv1757105,nssv1757069,nssv1757122,nssv1757072,nssv1757129,nssv1757140,nssv1757118,nssv1757075,nssv1757120,nssv1757133,nssv1757142,nssv1757081,nssv1757107,nssv1757138,nssv1757100,nssv1757090,nssv1757102,nssv1757131,nssv1757144,nssv1757136,nssv1757112,nssv1757132,nssv1757148,nssv1757074,nssv1757110,nssv1757062,nssv1757143,nssv1757079,nssv1757125,nssv1757078,nssv1757096,nssv1757084,nssv1757109,nssv1757054,nssv1757106,nssv1757059,nssv1757103,nssv1757073,nssv1757146,nssv1757071,nssv1757150,nssv1757070,nssv1757123,nssv1757086,nssv1757124,nssv1757061,nssv1757119,nssv1757088,nssv1757130,nssv1757089,nssv1757128,nssv1757058,nssv1757116,nssv1757060,nssv1757111,nssv1757077,nssv1757127,nssv1757137,nssv1757121,nssv1757082,nssv1757126,nssv1757076,nssv1757149,nssv1757068,nssv1757117,nssv1757134,nssv1757101,nssv1757135,nssv1757092,nssv1757087,nssv1757097,nssv1757085,nssv1757098,nssv1757091,nssv1757115,nssv1757065,nssv1757099,nssv1757114 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4461104 1 27638716 27638717 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031391 M 10847 1 0 "" esv3664481 1 27648220 27648220 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487237 M 20 1 0 "" nsv945850 1 27650951 27655327 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757236,nssv1757224,nssv1757152,nssv1757247,nssv1757154,nssv1757194,nssv1757153,nssv1757210,nssv1757160,nssv1757200,nssv1757161,nssv1757189,nssv1757185,nssv1757204,nssv1757177,nssv1757212,nssv1757168,nssv1757213,nssv1757229,nssv1757196,nssv1757179,nssv1757242,nssv1757183,nssv1757190,nssv1757170,nssv1757207,nssv1757167,nssv1757192,nssv1757180,nssv1757215,nssv1757172,nssv1757191,nssv1757174,nssv1757223,nssv1757182,nssv1757202,nssv1757151,nssv1757205,nssv1757184,nssv1757244,nssv1757155,nssv1757199,nssv1757232,nssv1757246,nssv1757176,nssv1757208,nssv1757187,nssv1757219,nssv1757178,nssv1757217,nssv1757228,nssv1757226,nssv1757175,nssv1757193,nssv1757234,nssv1757245,nssv1757159,nssv1757195,nssv1757237,nssv1757201,nssv1757173,nssv1757241,nssv1757162,nssv1757197,nssv1757188,nssv1757239,nssv1757163,nssv1757240,nssv1757230,nssv1757227,nssv1757231,nssv1757198,nssv1757233,nssv1757211,nssv1757169,nssv1757214,nssv1757158,nssv1757218,nssv1757235,nssv1757222,nssv1757171,nssv1757203,nssv1757164,nssv1757243,nssv1757156,nssv1757209,nssv1757157,nssv1757220,nssv1757166,nssv1757238,nssv1757165,nssv1757225,nssv1757181,nssv1757216,nssv1757186,nssv1757206,nssv1757221 M 97 10 0 LOC644961,TMEM222 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4046445 1 27651440 27655927 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849566 M 10847 0 1 LOC644961,TMEM222 nsv5876990 1 27656518 27656812 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367823 M 914 0 1 TMEM222 nsv3173210 1 27659388 27659752 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413847 M 9 0 0 TMEM222 HG00514 nsv516766 1 27662235 27731651 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv654983,nssv670705 M 2026 0 2 CD164L2,FCN3,GPR3,MAP3K6,SYTL1,TMEM222,WASF2 nsv6333187 1 27664181 27664978 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060655 M 19652 0 1 "" nsv4766869 1 27668430 27668430 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16268616 M 25 1 0 "" nsv4535202 1 27671440 27671441 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031401 M 10847 1 0 SYTL1 nsv5882008 1 27673093 27673452 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357230 M 914 0 1 SYTL1 nsv5983645 1 27673094 27673455 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520045 M 405 0 1 SYTL1 nsv5983510 1 27677547 27677622 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537226 M 405 0 1 SYTL1 nsv4034709 1 27677552 27677621 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849567 M 10847 0 1 SYTL1 nsv4048685 1 27677892 27678062 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849568 M 10847 0 1 SYTL1 nsv6334417 1 27679247 27681233 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203500 M 19652 1 0 SYTL1 nsv5875841 1 27680703 27680847 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17367723 M 914 1 0 "" nsv6332901 1 27681233 27681554 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060656 M 19652 0 1 "" nsv4049352 1 27689671 27694808 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849569 M 10847 0 1 MAP3K6 nsv1075766 1 27691999 27693600 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767426 M 1 0 1 MAP3K6 KWP1 esv1006916 1 27693067 27707009 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565148 M 3 0 1 CD164L2,FCN3,MAP3K6 HuRef nsv5867776 1 27694811 27695001 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361723 M 914 0 1 "" nsv4034694 1 27696775 27703393 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965460 M 10847 1 0 FCN3 nsv5414787 1 27696826 27703393 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900443 M 3202 1 0 FCN3 nsv6316101 1 27696826 27703393 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203501 M 19652 1 0 FCN3 nsv5829937 1 27696863 27702096 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463043 M 914 0 0 FCN3 nsv6323537 1 27698447 27703622 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060657 M 19652 0 1 FCN3 nsv5983725 1 27700103 27700175 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530585 M 405 0 1 FCN3 nsv2801170 1 27700148 27700148 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681952 M 2 1 0 FCN3 nsv3324218 1 27700148 27700148 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472119 M 14 1 0 FCN3 CHM13 nsv1147132 1 27700154 27700224 CNV insertion John_et_al_2014 26484159 Sequencing nssv3998496 M 1 1 0 FCN3 KWB1 nsv6042176 1 27700235 27700235 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518194 M 405 1 0 FCN3 nsv5983553 1 27700239 27700309 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524321 M 405 0 1 FCN3 nsv5983646 1 27701816 27705531 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17526428 M 405 1 0 "" nsv4038693 1 27702400 27705953 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849570 M 10847 0 1 CD164L2 nsv6330210 1 27710591 27714490 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060658 M 19652 0 1 "" nsv5432836 1 27710615 27714490 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900249 M 3202 0 1 "" nsv6541924 1 27710616 27712656 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252270 M 19652 0 0 "" nsv5554253 1 27710616 27714490 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900250 M 3202 0 0 "" nsv4326199 1 27710616 27714495 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789149 M 10847 0 0 "" nsv6042092 1 27712608 27712608 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530207 M 405 1 0 "" nsv5870528 1 27712610 27712695 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354982 M 914 0 1 "" nsv5983726 1 27712610 27712696 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531047 M 405 0 1 "" nsv4036921 1 27712620 27712670 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849571 M 10847 0 1 "" nsv5416176 1 27712620 27712670 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900251 M 3202 0 1 "" nsv5955939 1 27715707 27715707 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351051 M 914 1 0 "" nsv4051928 1 27716579 27717699 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851679 M 10847 0 1 "" nsv5559644 1 27716631 27717625 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900253 M 3202 0 0 "" nsv4049290 1 27717561 27718902 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851680 M 10847 0 1 "" nsv950342 1 27719301 27737400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997107 M 1 0 1 GPR3,WASF2 BILGI_BIOE nsv6316887 1 27720592 27739574 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203502 M 19652 1 0 GPR3,WASF2 esv3345943 1 27724965 27728263 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692271 M 185 1 0 "" NA19239 nsv4037547 1 27725745 27729111 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851681 M 10847 0 1 "" nsv5424595 1 27732094 27732222 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900254 M 3202 0 1 WASF2 nsv4044305 1 27733667 27734389 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851682 M 10847 0 1 WASF2 nsv6332702 1 27733797 27734775 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060659 M 19652 0 1 WASF2 nsv5544240 1 27735571 27735664 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900255 M 3202 1 0 WASF2 nsv5725227 1 27742222 27742222 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17249211 M 3202 1 0 WASF2 nsv4571909 1 27742222 27742223 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031411 M 10847 1 0 WASF2 nsv5560072 1 27742238 27742273 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900257 M 3202 1 0 WASF2 nsv6537288 1 27746085 27746581 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252271 M 19652 0 0 WASF2 nsv6539137 1 27746584 27748023 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252272 M 19652 0 0 WASF2 nsv4033123 1 27749091 27749322 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851683 M 10847 0 1 WASF2 nsv4037205 1 27762793 27763408 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965461 M 10847 1 0 WASF2 nsv4036585 1 27762900 27763410 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851685 M 10847 0 1 WASF2 nsv4460801 1 27763751 27763752 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031420 M 10847 1 0 WASF2 nsv6316884 1 27766966 27783962 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060660 M 19652 0 1 WASF2 nsv5887240 1 27768093 27770008 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369622 M 914 0 1 WASF2 nsv5871678 1 27768246 27769035 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365436 M 914 0 1 WASF2 esv2661510 1 27768246 27769036 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5656985,essv6331675,essv5573219,essv5748912,essv6406462,essv6464969 M 1151 0 6 WASF2 HG00595,HG00683,NA18541,NA18635,NA18638,NA19070 nsv6323358 1 27768246 27769036 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060661 M 19652 0 1 WASF2 nsv5983738 1 27768251 27769040 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533543 M 405 0 1 WASF2 nsv4517155 1 27768274 27769014 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851686 M 10847 0 1 WASF2 nsv5428924 1 27768275 27769137 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900259 M 3202 0 1 WASF2 nsv6538433 1 27769709 27770470 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252273 M 19652 0 0 WASF2 nsv3114443 1 27770986 27792364 CNV duplication Lu_et_al_2017 28705883 Oligo aCGH nssv14098580 M 467 1 0 WASF2 sample375 esv3585559 1 27771674 27775590 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894311 M 2504 0 1 WASF2 NA20515 nsv5427415 1 27771680 27775554 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900260 M 3202 0 1 WASF2 nsv6329208 1 27771680 27775554 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060662 M 19652 0 1 WASF2 dgv14n27 1 27772009 27945359 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nsv460906,nsv460895 M 1557 0 2 AHDC1,FGR,WASF2 1780854103_A,HGDP00861 esv2763086 1 27772548 27849300 CNV gain Vogler_et_al_2010 21179565 Merging,SNP array essv7022521 M 1109 1 0 WASF2 SW_1162 nsv6319339 1 27775128 27777453 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060663 M 19652 0 1 WASF2 nsv6326762 1 27775841 27776387 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060664 M 19652 0 1 WASF2 nsv6317406 1 27776520 27785088 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060665 M 19652 0 1 WASF2 nsv6537372 1 27776613 27777090 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252274 M 19652 0 0 WASF2 nsv5983727 1 27778873 27779175 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534850 M 405 0 1 WASF2 nsv5983739 1 27779347 27779512 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526722 M 405 0 1 WASF2 nsv6537657 1 27779949 27780790 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252275 M 19652 0 0 WASF2 nsv6537482 1 27780461 27780603 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252276 M 19652 0 0 WASF2 nsv4460802 1 27782360 27782361 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031985 M 10847 1 0 WASF2 nsv6542831 1 27782579 27783214 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252277 M 19652 0 0 WASF2 nsv5415398 1 27785390 27838006 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900261 M 3202 1 0 WASF2 nsv6332816 1 27785400 27790631 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060666 M 19652 0 1 WASF2 dgv219n54 1 27786334 27945359 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545912,nsv545911,nsv545910 M 17421 0 3 AHDC1,FGR,WASF2 HGDP00850,HGDP00861 nsv6320740 1 27787422 27807241 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060667 M 19652 0 1 WASF2 nsv6334682 1 27788529 27791320 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203503 M 19652 1 0 WASF2 nsv5715337 1 27788976 27788976 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17234986 M 3202 1 0 WASF2 nsv4535856 1 27788976 27788977 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028958 M 10847 1 0 WASF2 nsv6329063 1 27790765 27791362 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060668 M 19652 0 1 WASF2 nsv3116234 1 27792174 27797515 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14094272 M 467 0 1 WASF2 sample324 nsv6554720 1 27793425 27794467 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252278 M 19652 0 0 WASF2 nsv6550161 1 27793664 27793925 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252279 M 19652 0 0 WASF2 nsv5560667 1 27793740 27795056 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900262 M 3202 0 0 WASF2 nsv6538976 1 27793853 27794257 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252280 M 19652 0 0 WASF2 nsv5538912 1 27795051 27795051 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900263 M 3202 1 0 WASF2 nsv5426176 1 27797573 27804128 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900264 M 3202 0 1 WASF2 nsv4034167 1 27797573 27804220 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965462 M 10847 1 0 WASF2 nsv4034634 1 27798000 27804000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851687 M 10847 0 1 WASF2 esv2459986 1 27803299 27804869 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5207086 M 1 0 1 WASF2 NA18507 nsv4038617 1 27803773 27804175 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965463 M 10847 1 0 WASF2 esv2248480 1 27803915 27804641 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4593459 M 1 0 1 WASF2 NA18507 nsv4517748 1 27804012 27804441 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851688 M 10847 0 1 WASF2 esv2745730 1 27804017 27804455 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6898620,essv6679185,essv6748553,essv6839989,essv6729639,essv6937696,essv6776948,essv6703873,essv6954765,essv6961578,essv6784765,essv6876374,essv6950578,essv6666909 M 96 0 14 WASF2 SSM001,SSM008,SSM009,SSM022,SSM025,SSM026,SSM027,SSM030,SSM033,SSM040,SSM047,SSM067,SSM084,SSM100 esv4796 1 27804067 27804536 CNV loss Wang_et_al_2008 18987735 Sequencing essv27237 M 1 0 1 WASF2 YH esv3559915 1 27804071 27804483 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758662 M 767 0 1 WASF2 nsv1152906 1 27804105 27804440 CNV deletion John_et_al_2014 26484159 Sequencing nssv3997940 M 1 0 1 WASF2 KWB1 nsv5571217 1 27804112 27804440 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064395 M 35 0 1 WASF2 HG00513 nsv5874638 1 27804112 27804440 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359288 M 914 0 1 WASF2 esv2671164 1 27804112 27804441 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6384346,essv6544626,essv6329771,essv5927048,essv6417125,essv6416400,essv5829901,essv6399601,essv6208608,essv6510144,essv6442647,essv6383142,essv5851125,essv6473587,essv6168658,essv6587180,essv6471909,essv6450729,essv5419990,essv6111039,essv5555057,essv6270565,essv5800074,essv5907962,essv6215862,essv6506664,essv5972713,essv5415834,essv6124918,essv5703113,essv5424657,essv6200776,essv5550834,essv6596775,essv6523872,essv6017155,essv6528760,essv5814959,essv6051127,essv6331828,essv6533530,essv5720598,essv6401778,essv5884529,essv6581448,essv6330752,essv5481314,essv6427098,essv6520052,essv5610100,essv6483853,essv5696713,essv6439308,essv6344485,essv6546474,essv5420608,essv6175935,essv5841233,essv6103896,essv5721150,essv6173551,essv5729620,essv6072524,essv5503841,essv5741683,essv5803540,essv5538367,essv6190973,essv6306367,essv5638084,essv6317252,essv6397014,essv5846995,essv5900809,essv6237908,essv6590796,essv6287694,essv6077576,essv5862715,essv5832427,essv5440087,essv6245775,essv5697456,essv6119585,essv6278800,essv5728867,essv6288330,essv6027426,essv6217473,essv6140705,essv5804009,essv6276449,essv5725938,essv6153236,essv6441199,essv6520028,essv5695628,essv6019690,essv5980177,essv6361071,essv6438247,essv6030218,essv6071907,essv6126155,essv6517587,essv5801748,essv5477339,essv6113749,essv5683641,essv5936815,essv6596666,essv5396943,essv6241796,essv6178149,essv5546068,essv6258189,essv5999494,essv5473843,essv5923963,essv6439359,essv6104100,essv5780015,essv5509932,essv6260395,essv6492950,essv5676724,essv5942358,essv5817783,essv5517948,essv6463027,essv5862011,essv6385129,essv5760489,essv6070550,essv6073532,essv5408394,essv5994696,essv5938748,essv5819554,essv6158008,essv6080799,essv5673761,essv5500894,essv5912507,essv5474518,essv5438092,essv6398380,essv6112107,essv6155143,essv6028820,essv6157277,essv5699664,essv5618272,essv5860097,essv6397001,essv5793667,essv5559498,essv5787919,essv5805021,essv6416043,essv5702794,essv6561715,essv6090982,essv6063374,essv6194454,essv6362424,essv6094877,essv6242067,essv5804181,essv5880614,essv6180838,essv6436076,essv6511191,essv6256005,essv6123131,essv5836076,essv6504114,essv5948450,essv6561922,essv5550038,essv5873590,essv5453205,essv5413441,essv5570883,essv5763922,essv6399532,essv6046955,essv6064725,essv5856382,essv6285024,essv6409392,essv5876719,essv6193884,essv6252849,essv6581949,essv6029157,essv6595875,essv6231143,essv5687203,essv6078138,essv6500483,essv6051183,essv6071742,essv6256249,essv5398333,essv6500171,essv5857219,essv5596772,essv6328000,essv5983262,essv5614513,essv5443280,essv6415335,essv6535413,essv6180248,essv5613267,essv5512125,essv6341358,essv6013184,essv5632973,essv5695084,essv5535849,essv5730859,essv6096773,essv5960925,essv6242109,essv5451087,essv5733171,essv6068265,essv5439305,essv5998769,essv6103026,essv6568116,essv6424807,essv6208128,essv5410798,essv5847055,essv6085762,essv6573520,essv6271585,essv6299068,essv6366311,essv6447581,essv5799079,essv5716088,essv6185508,essv5830147,essv6517533,essv6315564,essv5541790,essv5541373,essv5650599,essv5943744,essv5600994,essv5505541,essv5649758,essv5680172,essv5605763,essv5957900,essv5647793,essv5969595,essv6372990,essv6122602,essv6194665,essv6183112,essv5447288,essv5899747,essv6515249,essv5814963,essv5481033,essv5960840,essv5745892,essv5778654,essv5508080,essv5495832,essv5426352,essv6006704,essv5426627,essv5520889,essv6108242,essv6440712,essv6546878,essv6350981,essv5456217,essv6598435,essv6114553,essv5766920,essv6512191,essv5904980,essv5411308,essv6218258,essv6100133,essv5620097,essv5741276,essv5504556,essv5731123,essv6024491,essv5602130,essv5733547,essv5936892,essv5513834,essv6148378,essv6030499,essv6079621,essv5946540,essv5602860,essv5654604,essv6208231,essv5685040,essv5966790,essv5796746,essv5507866,essv6094682,essv5960298,essv6528547,essv5494526,essv5651342,essv6493642,essv5457342,essv5645133,essv5597255,essv5526788,essv5473547 M 1151 0 323 WASF2 HG00108,HG00111,HG00117,HG00140,HG00145,HG00156,HG00158,HG00171,HG00183,HG00185,HG00188,HG00245,HG00252,HG00259,HG00266,HG00273,HG00274,HG00275,HG00278,HG00281,HG00285,HG00308,HG00310,HG00334,HG00336,HG00338,HG00339,HG00343,HG00346,HG00353,HG00367,HG00404,HG00418,HG00419,HG00421,HG00422,HG00427,HG00428,HG00437,HG00442,HG00443,HG00448,HG00463,HG00464,HG00472,HG00473,HG00475,HG00476,HG00478,HG00479,HG00500,HG00501,HG00512,HG00513,HG00524,HG00525,HG00530,HG00533,HG00534,HG00537,HG00542,HG00543,HG00557,HG00560,HG00565,HG00566,HG00578,HG00581,HG00583,HG00584,HG00589,HG00590,HG00592,HG00593,HG00595,HG00596,HG00607,HG00608,HG00610,HG00611,HG00613,HG00614,HG00619,HG00620,HG00625,HG00628,HG00629,HG00634,HG00635,HG00638,HG00650,HG00651,HG00653,HG00654,HG00656,HG00657,HG00662,HG00663,HG00671,HG00672,HG00683,HG00684,HG00689,HG00690,HG00692,HG00693,HG00698,HG00699,HG00701,HG00702,HG00704,HG00705,HG00707,HG00708,HG01048,HG01066,HG01069,HG01072,HG01101,HG01108,HG01125,HG01170,HG01204,HG01365,HG01378,HG01521,NA07051,NA07346,NA11992,NA12006,NA12342,NA12546,NA18486,NA18487,NA18489,NA18498,NA18499,NA18502,NA18504,NA18505,NA18507,NA18508,NA18510,NA18511,NA18516,NA18517,NA18519,NA18520,NA18522,NA18523,NA18530,NA18534,NA18537,NA18543,NA18545,NA18546,NA18559,NA18561,NA18562,NA18565,NA18566,NA18567,NA18570,NA18571,NA18574,NA18576,NA18579,NA18593,NA18595,NA18597,NA18599,NA18605,NA18608,NA18611,NA18612,NA18613,NA18614,NA18615,NA18626,NA18628,NA18630,NA18634,NA18635,NA18636,NA18637,NA18853,NA18856,NA18858,NA18861,NA18868,NA18870,NA18871,NA18873,NA18874,NA18907,NA18908,NA18909,NA18910,NA18916,NA18923,NA18933,NA18934,NA18940,NA18950,NA18960,NA18963,NA18983,NA18986,NA18989,NA18990,NA19003,NA19004,NA19007,NA19009,NA19010,NA19054,NA19055,NA19059,NA19062,NA19064,NA19074,NA19078,NA19084,NA19088,NA19093,NA19098,NA19099,NA19107,NA19108,NA19114,NA19119,NA19129,NA19131,NA19137,NA19144,NA19147,NA19159,NA19160,NA19172,NA19189,NA19190,NA19197,NA19198,NA19200,NA19204,NA19207,NA19213,NA19225,NA19247,NA19248,NA19256,NA19257,NA19315,NA19327,NA19334,NA19350,NA19371,NA19372,NA19376,NA19377,NA19381,NA19382,NA19390,NA19391,NA19396,NA19398,NA19399,NA19404,NA19434,NA19436,NA19438,NA19440,NA19449,NA19455,NA19466,NA19469,NA19625,NA19654,NA19658,NA19700,NA19701,NA19703,NA19704,NA19707,NA19711,NA19712,NA19713,NA19818,NA19819,NA19834,NA19835,NA19900,NA19901,NA19904,NA19908,NA19909,NA19916,NA19917,NA19920,NA19921,NA19982,NA19985,NA20126,NA20127,NA20281,NA20289,NA20291,NA20294,NA20322,NA20346,NA20348,NA20521,NA20525,NA20528,NA20538,NA20543,NA20585,NA20760,NA20765,NA20770,NA20785,NA20786,NA20809 nsv3940798 1 27804112 27804441 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182487 M 1 0 1 WASF2 HG002 nsv4449160 1 27804112 27804441 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15758474 M 1 0 1 WASF2 nsv5983647 1 27804112 27804441 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518978 M 405 0 1 WASF2 nsv3323330 1 27804114 27804442 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14478940,nssv14489283 M 14 0 2 WASF2 HG04217,NA19434 nsv3183969 1 27804118 27804441 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357635 M 9 0 1 WASF2 HG00513 nsv4731763 1 27804122 27804451 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16280898 M 25 0 1 WASF2 nsv5432417 1 27804128 27804441 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900265 M 3202 0 1 WASF2 nsv6332821 1 27804128 27804441 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060669 M 19652 0 1 WASF2 nsv5884347 1 27804157 27807290 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368207 M 914 0 1 WASF2 nsv5829965 1 27804756 27806608 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463339 M 914 0 0 WASF2 nsv6322126 1 27805689 27809810 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060670 M 19652 0 1 WASF2 nsv4039891 1 27806336 27811548 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851689 M 10847 0 1 WASF2 esv3664490 1 27807659 27807659 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487245 M 20 1 0 WASF2 nsv6051412 1 27807926 27807926 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530092 M 405 1 0 WASF2 nsv5415646 1 27809997 27810114 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900266 M 3202 0 1 WASF2 nsv6334618 1 27811292 27813319 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060671 M 19652 0 1 WASF2 nsv4050696 1 27813909 27814000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965464 M 10847 1 0 WASF2 nsv6055419 1 27813999 27813999 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533379 M 405 1 0 WASF2 nsv6053653 1 27814035 27814035 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526549 M 405 1 0 WASF2 nsv5983728 1 27814059 27814125 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529573 M 405 0 1 WASF2 nsv3932669 1 27814155 27814155 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192296 M 1 1 0 WASF2 HG002 nsv5611366 1 27814155 27814155 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065056 M 35 1 0 WASF2 NA24385 esv3683091 1 27815763 27815873 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467859 M 20 0 1 WASF2 esv2049917 1 27815838 27816153 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4809581 M 1 0 1 WASF2 NA18507 nsv5571966 1 27815875 27815963 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065057 M 35 0 1 WASF2 HG03732 nsv159932 1 27815903 27815985 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178510 M 24 WASF2 nsv5427984 1 27817465 27817778 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901188 M 3202 0 1 "" nsv6322614 1 27817561 27822946 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203507 M 19652 1 0 "" nsv4051369 1 27821165 27841350 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965465 M 10847 1 0 "" nsv6332486 1 27821271 27841425 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203508 M 19652 1 0 "" nsv4051004 1 27821424 27827677 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851690 M 10847 0 1 "" nsv5879847 1 27822494 27822611 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358545 M 914 0 1 "" nsv4045307 1 27822529 27822612 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851691 M 10847 0 1 "" nsv5417728 1 27822529 27822612 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901189 M 3202 0 1 "" nsv1118108 1 27823500 27824000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980327 M 2 0 1 "" KWS1 esv3668050 1 27826875 27827059 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490449 M 20 0 0 "" nsv5433492 1 27834359 27834420 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901190 M 3202 1 0 "" nsv6549630 1 27838350 27838985 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252281 M 19652 0 0 "" esv3664512 1 27839429 27839429 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487265 M 20 1 0 "" nsv4461860 1 27841238 27841239 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028976 M 10847 1 0 "" nsv5679954 1 27841254 27841254 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17190126 M 3202 1 0 "" nsv5413175 1 27841254 27841260 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901191 M 3202 1 0 "" nsv4460803 1 27843811 27843812 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16028987 M 10847 1 0 "" nsv5681809 1 27843825 27843825 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17189587 M 3202 1 0 "" nsv460917 1 27849300 27937456 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537395 M 1557 0 1 AHDC1 HGDP00890 dgv220n54 1 27849300 27958245 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545915,nsv545913,nsv545914 M 17421 0 4 AHDC1,FGR HGDP00890 nsv522842 1 27849300 28011854 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv698494 M 2026 1 0 AHDC1,FGR,IFI6 nsv3221894 1 27850381 27859923 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261173,nssv14261174 M 9 2 0 "" NA19238,NA19239 nsv6327395 1 27853058 27857821 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060672 M 19652 0 1 "" nsv520790 1 27859036 27876482 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697612 M 2026 0 1 AHDC1 nsv5954336 1 27864911 27864911 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17365565 M 914 1 0 AHDC1 nsv6331048 1 27870133 27871103 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060673 M 19652 0 1 AHDC1 esv6834 1 27874042 27874192 CNV gain Ahn_et_al_2009 19470904 Sequencing essv29275 M 1 0 0 AHDC1 nsv476781 1 27874343 27874343 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014802 M 9 1 0 AHDC1 NA12878 nsv508700 1 27883154 27980196 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv620127 M 4 0 1 AHDC1,FGR NA15510 nsv1014991 1 27887013 27955385 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700634 M 11257 1 0 AHDC1,FGR nsv950343 1 27895301 27943600 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997108 M 1 0 1 AHDC1,FGR BILGI_BIOE esv3585560 1 27905350 27910031 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894312 M 2504 0 1 AHDC1 HG03922 nsv5415086 1 27905418 27910055 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901192 M 3202 0 1 AHDC1 nsv6552529 1 27909488 27911716 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252282 M 19652 0 0 AHDC1 nsv1110128 1 27913800 27916300 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3959393 M 2 1 0 AHDC1 KWS1 nsv4039927 1 27916801 27917420 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851693 M 10847 0 1 AHDC1 nsv4048263 1 27919095 27922035 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965466 M 10847 1 0 AHDC1 nsv4042332 1 27920751 27923083 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851694 M 10847 0 1 AHDC1 nsv6328743 1 27920751 27923083 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060674 M 19652 0 1 AHDC1 esv28987 1 27921423 27922378 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17459 M 40 0 1 AHDC1 NA12006 esv3375492 1 27921465 27922763 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692272 M 185 1 0 AHDC1 NA19239 esv2745741 1 27935044 27935874 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6742155,essv6832611,essv6954766,essv6917448,essv6972370,essv6801628,essv6759061,essv6816600,essv6784776,essv6695776 M 96 0 10 "" SSM006,SSM009,SSM017,SSM026,SSM029,SSM053,SSM061,SSM073,SSM078,SSM082 esv3938 1 27935256 27935801 CNV loss Wang_et_al_2008 18987735 Sequencing essv26379 M 1 0 1 "" YH nsv3281020 1 27935353 27935461 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14445947 M 9 0 1 "" HG00733 nsv2801171 1 27935354 27935490 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13692566 M 2 0 1 "" nsv3323340 1 27935354 27935490 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477420,nssv14484781,nssv14483585,nssv14475590 M 14 0 4 "" CHM1,HG00268,HG00733,HG01352 nsv5983559 1 27935356 27935497 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520064 M 405 0 1 "" nsv3935265 1 27935360 27935497 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182494 M 1 0 1 "" HG002 nsv4449161 1 27935360 27935497 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15764716 M 1 0 1 "" nsv5574863 1 27935364 27935496 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064512 M 35 0 1 "" HG00732 esv2671833 1 27935377 27935497 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5459034,essv6418609,essv5591625,essv5808951,essv6057171,essv5924614,essv6038317,essv5731888,essv6172799,essv5805930,essv5897839,essv5519483,essv5876626,essv6236283,essv5841213,essv5969014,essv6207391,essv5409966,essv5657651,essv5645280,essv5928496,essv6286416,essv6576928,essv5414807,essv5731118,essv5606064,essv6091942,essv5851744,essv5631059,essv6050075,essv5952684,essv5944165,essv6008794,essv6212112,essv5898116,essv6559019,essv5750100,essv5596147,essv5687246,essv6023411,essv5580602,essv6560994,essv6000224,essv6132419,essv5995609,essv5935364,essv6046864,essv5764770,essv5746059,essv5400050,essv6376003,essv6384142,essv5792046,essv6232771,essv6532210,essv6318817,essv5514301,essv6068321,essv5654837,essv5505281,essv6130995,essv5695168,essv6404629,essv6234435,essv5860010,essv6128902,essv5748794,essv5718325,essv6441982,essv6083652,essv6297502,essv5673763,essv5567779,essv5938399,essv6598044,essv6565442,essv5653142,essv5770782,essv5526558,essv5920276,essv5533020,essv5731724,essv6342310,essv6479146,essv5491598,essv5452097,essv6120027,essv5815082,essv6566685,essv5795808,essv6462440,essv5457909,essv5827798,essv5471203,essv5654365,essv5928309,essv5569055,essv5674560,essv5911098,essv5869118,essv5930573,essv5408921,essv6419329,essv5576206,essv5575018,essv5626132,essv5863213,essv5716941,essv6111054,essv5548433,essv6359565,essv6238428,essv5890768,essv5776929,essv5455188,essv5416066,essv5726382,essv5709266,essv6416988 M 1151 0 119 "" HG00108,HG00111,HG00125,HG00137,HG00138,HG00140,HG00154,HG00186,HG00232,HG00237,HG00253,HG00256,HG00257,HG00259,HG00261,HG00268,HG00273,HG00281,HG00282,HG00284,HG00285,HG00309,HG00313,HG00315,HG00318,HG00319,HG00323,HG00324,HG00325,HG00326,HG00327,HG00328,HG00329,HG00330,HG00334,HG00335,HG00337,HG00338,HG00339,HG00343,HG00344,HG00345,HG00375,HG00421,HG00436,HG00437,HG00449,HG00463,HG00473,HG00475,HG00478,HG00500,HG00512,HG00525,HG00531,HG00533,HG00534,HG00536,HG00542,HG00556,HG00580,HG00583,HG00589,HG00590,HG00619,HG00650,HG00654,HG00656,HG00663,HG00672,HG00689,HG00692,HG00699,HG00702,HG00704,HG00707,HG01051,HG01060,HG01066,HG01070,HG01072,HG01073,HG01083,HG01101,HG01107,HG01173,HG01174,HG01350,HG01366,HG01374,HG01375,HG01377,HG01389,HG01440,NA07347,NA11830,NA11894,NA11919,NA11992,NA12003,NA12004,NA12043,NA12829,NA18536,NA18542,NA18557,NA18572,NA18576,NA18577,NA18595,NA18605,NA18610,NA18612,NA18621,NA18622,NA18623,NA18624,NA18951,NA20504 nsv3063178 1 27935383 27935500 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14036609 M 2 0 1 "" NA12878 nsv4749510 1 27935389 27935527 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16273005 M 25 0 1 "" esv2527619 1 27935391 27935519 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5200455 M 1 0 1 "" NA18507 esv2745752 1 27935403 27935524 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6954766,essv6816600 M 96 0 2 "" SSM026,SSM078 nsv3323537 1 27935444 27935525 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472185 M 14 0 1 "" NA12878 nsv4050002 1 27963000 27969000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851695 M 10847 0 1 "" nsv6322265 1 27967013 27968196 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203514 M 19652 1 0 "" nsv4032990 1 27968444 27968560 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965467 M 10847 1 0 "" nsv5432711 1 27974672 27981245 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901197 M 3202 0 1 "" nsv945851 1 27975863 27977013 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757250,nssv1757306,nssv1757249,nssv1757311,nssv1757257,nssv1757315,nssv1757251,nssv1757288,nssv1758257,nssv1757318,nssv1757258,nssv1757297,nssv1757271,nssv1757296,nssv1757260,nssv1758265,nssv1757253,nssv1757307,nssv1757326,nssv1757300,nssv1757267,nssv1758262,nssv1757274,nssv1757295,nssv1757266,nssv1757310,nssv1757328,nssv1757320,nssv1757282,nssv1757321,nssv1758258,nssv1757317,nssv1757268,nssv1757303,nssv1757275,nssv1757286,nssv1757285,nssv1757319,nssv1757325,nssv1757322,nssv1757264,nssv1757292,nssv1757281,nssv1757293,nssv1758256,nssv1758263,nssv1757284,nssv1757324,nssv1757256,nssv1757309,nssv1757263,nssv1758268,nssv1757283,nssv1757291,nssv1757279,nssv1757305,nssv1757277,nssv1757312,nssv1757248,nssv1757287,nssv1757330,nssv1757313,nssv1757280,nssv1757289,nssv1757265,nssv1758267,nssv1757270,nssv1757314,nssv1757278,nssv1758264,nssv1757261,nssv1758260,nssv1757276,nssv1758266,nssv1757331,nssv1757294,nssv1757269,nssv1757323,nssv1757272,nssv1757298,nssv1757255,nssv1757299,nssv1757259,nssv1757304,nssv1757254,nssv1758261,nssv1757327,nssv1757290,nssv1757252,nssv1757301,nssv1757273,nssv1757316,nssv1757329,nssv1757302,nssv1757262,nssv1757308,nssv1758259 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5983964 1 27978386 27979594 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526206 M 405 0 1 "" esv3303011 1 27979290 27979472 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7736546,essv7736679,essv7736153,essv7737696,essv7731701 M 185 5 0 "" NA12828,NA18582,NA18943,NA19005,NA19093 nsv3561689 1 27979351 27979351 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357664,nssv14357665 M 9 2 0 "" HG00513,HG00514 nsv5624437 1 27979351 27979351 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064520 M 35 1 0 "" HG00512 nsv6060233 1 27979351 27979351 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533599 M 405 1 0 "" nsv5881381 1 27979351 27979433 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17360310 M 914 1 0 "" nsv4518032 1 27979351 27979435 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965468 M 10847 1 0 "" nsv5429149 1 27979351 27979435 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901198 M 3202 1 0 "" nsv4762185 1 27979364 27979364 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265478 M 25 1 0 "" nsv3323834 1 27979407 27979407 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486142,nssv14485944,nssv14487413,nssv14478251,nssv14485824 M 14 5 0 "" HG00514,HG02059,HG04217,HX1,NA19434 nsv3557858 1 27979412 27979412 CNV mobile element insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413850 M 9 1 0 "" HG00514 nsv160061 1 27979436 27979436 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv178639 M 24 "" esv2677722 1 27979651 27980508 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5620706 M 1151 0 1 "" NA19360 nsv6320909 1 27979826 27984477 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060675 M 19652 0 1 "" nsv1119671 1 27984521 27984588 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982118 M 2 0 1 "" KWS1 nsv6326341 1 27986112 27986611 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060676 M 19652 0 1 "" nsv5429637 1 27989330 27989383 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901199 M 3202 0 1 "" nsv4045150 1 27990665 27994450 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965469 M 10847 1 0 IFI6 nsv6331880 1 27991035 27991595 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060677 M 19652 0 1 "" esv2745763 1 27995434 27995696 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6692784,essv6776949,essv6789168,essv6829025,essv6954767,essv6699605,essv6853256,essv6675213,essv6933322 M 96 0 9 IFI6 SSM021,SSM026,SSM032,SSM037,SSM039,SSM067,SSM070,SSM081,SSM087 esv2745774 1 27995490 27995618 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6692784,essv6829025,essv6699605,essv6853256,essv6675213 M 96 0 5 IFI6 SSM032,SSM037,SSM039,SSM081,SSM087 esv2745785 1 27995552 27995696 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6789168 M 96 0 1 IFI6 SSM070 nsv6333393 1 27997013 28003617 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203515 M 19652 1 0 IFI6 nsv5425502 1 28001428 28002377 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901200 M 3202 0 1 "" nsv6323571 1 28001502 28002314 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060678 M 19652 0 1 "" nsv4041476 1 28001503 28002314 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851696 M 10847 0 1 "" esv3585561 1 28001516 28002370 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894315,essv9894313,essv9894314 M 2504 0 3 "" HG02051,HG03054,HG03470 nsv4568369 1 28009459 28009460 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029565 M 10847 1 0 "" nsv4460804 1 28011450 28011451 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029573 M 10847 1 0 "" esv3434332 1 28012465 28014563 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692273 M 185 1 0 "" NA19239 nsv5536817 1 28021173 28021173 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901201 M 3202 1 0 "" nsv5398371 1 28024916 28024916 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901202 M 3202 1 0 "" nsv5678979 1 28024916 28024916 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205726 M 3202 1 0 "" nsv5416898 1 28029129 28030679 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901204 M 3202 0 1 "" nsv5613966 1 28029559 28029559 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064531 M 35 1 0 "" HG02011 nsv5433386 1 28029559 28029667 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901205 M 3202 1 0 "" nsv476742 1 28031790 28031790 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016655 M 9 1 0 "" NA12878 nsv4557754 1 28032010 28032011 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029582 M 10847 1 0 "" nsv6333945 1 28034412 28064131 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203516 M 19652 1 0 FAM76A nsv5682082 1 28035370 28035370 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17191254 M 3202 1 0 "" nsv5408671 1 28035370 28035421 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901206 M 3202 1 0 "" esv2664138 1 28036280 28038946 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6481352 M 1151 0 1 "" HG00331 nsv5421479 1 28036324 28038940 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901207 M 3202 0 1 "" nsv6329284 1 28036326 28038952 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060679 M 19652 0 1 "" nsv4517944 1 28036413 28038813 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965470 M 10847 1 0 "" nsv4051124 1 28038874 28043486 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851697 M 10847 0 1 "" nsv6329370 1 28038900 28043486 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060680 M 19652 0 1 "" nsv6548918 1 28049694 28050744 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252283 M 19652 0 0 "" nsv6555583 1 28050393 28050774 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252284 M 19652 0 0 "" nsv6325626 1 28051128 28058612 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060681 M 19652 0 1 FAM76A nsv6320655 1 28051512 28053111 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203517 M 19652 1 0 FAM76A nsv6544120 1 28055025 28055407 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252285 M 19652 0 0 FAM76A nsv6319313 1 28056833 28057952 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060682 M 19652 0 1 FAM76A nsv4036318 1 28056998 28057924 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851699 M 10847 0 1 FAM76A nsv5426575 1 28056998 28057924 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901208 M 3202 0 1 FAM76A nsv6258593 1 28061384 28061384 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17843347 M 1021 1 0 FAM76A nsv6554025 1 28063457 28064235 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252286 M 19652 0 0 FAM76A nsv1126986 1 28068156 28068251 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985276 M 2 0 1 FAM76A KWS1 nsv5883926 1 28074844 28075045 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357676 M 914 0 1 FAM76A nsv4052438 1 28074847 28075046 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851700 M 10847 0 1 FAM76A nsv4046692 1 28074952 28075044 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851701 M 10847 0 1 FAM76A nsv6547465 1 28077624 28077728 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249041 M 19652 0 0 FAM76A nsv4461861 1 28080388 28080389 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16031995 M 10847 1 0 FAM76A esv3683102 1 28080635 28080770 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467869 M 20 0 1 FAM76A nsv6535746 1 28082887 28083288 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249042 M 19652 0 0 FAM76A nsv5829674 1 28085416 28086515 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455586,nssv17455868 M 914 0 0 FAM76A nsv4048080 1 28086287 28086631 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851702 M 10847 0 1 FAM76A nsv5829820 1 28090949 28092148 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464890 M 914 0 0 "" nsv1122315 1 28091633 28091692 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990250,nssv3995118 M 2 0 2 "" KWS1,KWS2 esv3585562 1 28094130 28096038 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894317,essv9894316 M 2504 0 2 "" NA19835,NA19917 esv2667993 1 28094221 28096018 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5975750 M 1151 0 1 "" NA19835 nsv5414800 1 28094241 28095984 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901210 M 3202 0 1 "" nsv4034008 1 28094784 28094846 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851703 M 10847 0 1 "" nsv6324387 1 28096924 28098647 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060683 M 19652 0 1 "" nsv1133828 1 28097995 28098053 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970152 M 2 0 1 "" KWS2 nsv6258615 1 28101188 28101188 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17843373 M 1021 1 0 STX12 esv3585563 1 28107186 28110447 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894325,essv9894324,essv9894318,essv9894322,essv9894319,essv9894323,essv9894320,essv9894321 M 2504 0 8 STX12 HG01914,HG01986,HG02471,HG02582,HG02628,HG03052,HG03479,NA19093 nsv4039838 1 28107233 28110424 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851704 M 10847 0 1 STX12 nsv5427823 1 28107233 28110432 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901211 M 3202 0 1 STX12 nsv6330857 1 28107233 28110432 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060684 M 19652 0 1 STX12 nsv6535889 1 28107474 28107633 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249043 M 19652 0 0 STX12 nsv4561684 1 28110134 28110135 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032014 M 10847 1 0 STX12 nsv5621660 1 28118663 28118663 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065069 M 35 1 0 STX12 HG00512 nsv4754766 1 28118676 28118676 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16278501 M 25 1 0 STX12 nsv6048994 1 28118705 28118705 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517953 M 405 1 0 STX12 nsv5983971 1 28118762 28118820 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537145 M 405 0 1 STX12 nsv6057749 1 28118831 28118831 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535995 M 405 1 0 STX12 nsv4318658 1 28122415 28127807 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789150 M 10847 0 0 STX12 nsv5561057 1 28122415 28127807 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901214 M 3202 0 0 STX12 nsv6551225 1 28123421 28124808 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249044 M 19652 0 0 STX12 nsv6549129 1 28123576 28127807 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249045 M 19652 0 0 STX12 nsv6333813 1 28124380 28126984 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060685 M 19652 0 1 STX12 nsv6551847 1 28125156 28126067 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249046 M 19652 0 0 STX12 nsv6550418 1 28125484 28126018 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249047 M 19652 0 0 STX12 nsv5692248 1 28128532 28128532 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17191440 M 3202 1 0 STX12 nsv5411005 1 28128532 28128583 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901216 M 3202 1 0 STX12 nsv6543758 1 28135159 28135616 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249048 M 19652 0 0 STX12 nsv4743656 1 28135563 28135639 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270946 M 25 0 1 STX12 nsv3198949 1 28135626 28207741 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14258023 M 9 0 1 PPP1R8,SCARNA1,STX12,THEMIS2 HG00732 nsv6554576 1 28135706 28136229 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249049 M 19652 0 0 STX12 nsv6546006 1 28135845 28136005 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249050 M 19652 0 0 STX12 nsv5983658 1 28136141 28136226 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530646 M 405 0 1 STX12 nsv6539096 1 28137560 28139165 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249051 M 19652 0 0 STX12 esv3683103 1 28137818 28137994 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467870 M 20 0 1 STX12 nsv4045459 1 28142772 28164959 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965471 M 10847 1 0 PPP1R8,SCARNA1,STX12 nsv5983659 1 28143466 28143615 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535369 M 405 0 1 STX12 nsv6042249 1 28143549 28143549 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525814 M 405 1 0 STX12 nsv509069 1 28143971 28232467 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621088 M 4 1 0 PPP1R8,RPA2,SCARNA1,STX12,THEMIS2 NA15510 nsv947419 1 28144412 28150992 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2757611 M 97 1 0 STX12 HGDP00998 nsv5426603 1 28146226 28146616 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901217 M 3202 0 1 STX12 nsv4562207 1 28151622 28151623 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032023 M 10847 1 0 "" nsv6553802 1 28152245 28152875 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249052 M 19652 0 0 "" nsv6541704 1 28163048 28164278 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249053 M 19652 0 0 PPP1R8 nsv5414323 1 28169949 28171722 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901218 M 3202 0 1 PPP1R8 nsv6552002 1 28170277 28170600 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249054 M 19652 0 0 PPP1R8 nsv4047497 1 28171215 28172320 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965472 M 10847 1 0 PPP1R8 nsv6553704 1 28171387 28171721 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249055 M 19652 0 0 PPP1R8 nsv6332555 1 28171513 28172511 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060686 M 19652 0 1 PPP1R8 nsv5428401 1 28171533 28172538 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901219 M 3202 0 1 PPP1R8 nsv3227269 1 28172922 28218517 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271066,nssv14271065 M 9 2 0 PPP1R8,RPA2,THEMIS2 HG00512,HG00514 nsv5868161 1 28173678 28173757 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361813 M 914 0 1 PPP1R8 nsv5572580 1 28173878 28174101 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065070 M 35 0 1 PPP1R8 HG03371 nsv5429101 1 28173885 28174102 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901220 M 3202 0 1 PPP1R8 nsv6138105 1 28175674 28181674 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901221 M 3202 1 0 PPP1R8 nsv511686 1 28179214 28182030 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626325 M 1 0 1 "" 1 nsv5983660 1 28179482 28179537 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533329 M 405 0 1 "" nsv5983972 1 28179564 28180192 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526762 M 405 0 1 "" nsv5983745 1 28179682 28179735 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529577 M 405 0 1 "" nsv5572118 1 28179704 28179753 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065071 M 35 0 1 "" NA19238 nsv3323543 1 28179706 28179758 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481510 M 14 0 1 "" HG02818 nsv5983746 1 28179712 28179812 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533604 M 405 0 1 "" nsv3273053 1 28179857 28180034 CNV sva deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14419365 M 9 0 1 "" HG00514 nsv2801908 1 28179858 28180034 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13707481 M 2 0 1 "" nsv3323348 1 28179858 28180034 CNV sva deletion Audano_et_al_2019 30661756 Sequencing nssv14812044,nssv14813385,nssv14812370,nssv14814009,nssv14812200 M 14 0 5 "" CHM1,CHM13,HG00268,HG02106,HX1 nsv4449162 1 28179890 28180462 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15759900 M 1 0 1 "" nsv5565991 1 28179917 28180487 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065072 M 35 0 1 "" HG00731 nsv3934522 1 28179917 28180488 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182502 M 1 0 1 "" HG002 nsv3280099 1 28179918 28180489 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385222,nssv14444730 M 9 0 2 "" HG00733,NA19240 nsv4730456 1 28179974 28180549 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268876 M 25 0 1 "" nsv2801810 1 28180078 28180471 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13709427 M 2 0 1 "" nsv3323544 1 28180078 28180471 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479495,nssv14478689,nssv14479737,nssv14475061,nssv14480757,nssv14478338,nssv14473161,nssv14490103,nssv14489572,nssv14482754,nssv14491040,nssv14472988,nssv14478074,nssv14482992 M 14 0 14 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3281220 1 28180081 28180477 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14417378 M 9 0 1 "" HG00514 nsv5983747 1 28180255 28180836 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531966 M 405 0 1 "" nsv5577662 1 28180306 28180551 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065073 M 35 0 1 "" NA19238 nsv5566171 1 28180696 28180971 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065074 M 35 0 1 "" NA19238 nsv3324240 1 28180812 28180861 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486587,nssv14483699,nssv14478723,nssv14476144,nssv14481396 M 14 0 5 "" HG00514,HG02059,HG04217,HX1,NA19434 nsv5868534 1 28180826 28180875 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356911 M 914 0 1 "" nsv5983973 1 28180826 28180880 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536932 M 405 0 1 "" nsv950344 1 28181101 28195500 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997109 M 1 0 1 "" BILGI_BIOE nsv5679420 1 28182603 28182603 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17190626 M 3202 1 0 "" nsv4036566 1 28185587 28188202 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851705 M 10847 0 1 "" nsv4034455 1 28189974 28195394 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851706 M 10847 0 1 "" nsv6332466 1 28190612 28192311 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060687 M 19652 0 1 "" nsv3542691 1 28192803 28192803 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413851 M 9 1 0 "" HG00514 nsv5882644 1 28193054 28193202 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367020 M 914 0 1 "" nsv5871904 1 28197343 28198095 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365758 M 914 0 1 "" nsv3220879 1 28199958 28218517 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261197,nssv14261198,nssv14261195,nssv14261194,nssv14261193,nssv14261196,nssv14261199 M 9 7 0 RPA2,THEMIS2 HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv160741 1 28200562 28201496 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179319 M 24 THEMIS2 nsv3193965 1 28201180 28201604 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357697,nssv14357694,nssv14357696,nssv14357695 M 9 0 4 THEMIS2 HG00512,HG00513,NA19238,NA19239 nsv3203399 1 28204634 28204983 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357743,nssv14357742,nssv14357741 M 9 0 3 THEMIS2 HG00512,HG00513,HG00514 nsv512728 1 28204691 28204969 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625353 M 1 1 0 THEMIS2 1 esv3446306 1 28204845 28205663 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652080 M 185 1 0 THEMIS2 NA19240 nsv5983974 1 28204917 28204984 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17518754 M 405 1 0 THEMIS2 nsv4760852 1 28204969 28204969 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16269712 M 25 1 0 THEMIS2 nsv3553328 1 28204971 28204971 CNV line1 insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440538,nssv14381564,nssv14413852 M 9 3 0 THEMIS2 HG00514,HG00733,NA19240 nsv3937011 1 28204971 28204971 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193119 M 1 1 0 THEMIS2 HG002 nsv5604567 1 28204971 28204971 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065075 M 35 1 0 THEMIS2 HG00731 nsv6041125 1 28204971 28204971 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531324 M 405 1 0 THEMIS2 nsv2801811 1 28204972 28204972 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679179,nssv13682664 M 2 2 0 THEMIS2 nsv3323838 1 28204972 28204972 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484106,nssv14476014,nssv14484678,nssv14491690,nssv14478508,nssv14489659,nssv14485427,nssv14482577,nssv14476349,nssv14491766,nssv14483961,nssv14475552,nssv14481604,nssv14488821 M 14 14 0 THEMIS2 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3053577 1 28204982 28204982 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14032110 M 2 1 0 THEMIS2 NA12878 nsv3056800 1 28204984 28204984 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025584 M 2 1 0 THEMIS2 CHM1 nsv5431034 1 28205373 28263437 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901224 M 3202 1 0 RPA2,SMPDL3B,THEMIS2 nsv4569321 1 28205431 28205432 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032034 M 10847 1 0 THEMIS2 esv3585564 1 28206060 28261986 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894355,essv9894405,essv9894356,essv9894429,essv9894387,essv9894427,essv9894362,essv9894421,essv9894369,essv9894401,essv9894388,essv9894418,essv9894382,essv9894426,essv9894360,essv9894413,essv9894376,essv9894396,essv9894367,essv9894392,essv9894381,essv9894422,essv9894365,essv9894432,essv9894347,essv9894406,essv9894374,essv9894428,essv9894352,essv9894416,essv9894377,essv9894424,essv9894379,essv9894407,essv9894378,essv9894389,essv9894346,essv9894404,essv9894373,essv9894394,essv9894354,essv9894390,essv9894359,essv9894409,essv9894371,essv9894395,essv9894348,essv9894433,essv9894386,essv9894398,essv9894383,essv9894415,essv9894350,essv9894410,essv9894363,essv9894414,essv9894368,essv9894412,essv9894349,essv9894431,essv9894380,essv9894391,essv9894353,essv9894393,essv9894366,essv9894425,essv9894375,essv9894408,essv9894361,essv9894420,essv9894358,essv9894430,essv9894384,essv9894400,essv9894357,essv9894417,essv9894351,essv9894419,essv9894385,essv9894423,essv9894364,essv9894403,essv9894372,essv9894399,essv9894370,essv9894434,essv9894553,essv9894551,essv9894397,essv9894550,essv9894411,essv9894552,essv9894402,essv9894516,essv9894339,essv9894493,essv9894340,essv9894439,essv9894344,essv9894547,essv9894336,essv9894548,essv9894326,essv9894513,essv9894335,essv9894454,essv9894337,essv9894497,essv9894343,essv9894530,essv9894333,essv9894468,essv9894331,essv9894484,essv9894342,essv9894441,essv9894341,essv9894543,essv9894334,essv9894465,essv9894345,essv9894436,essv9894327,essv9894460,essv9894328,essv9894545,essv9894332,essv9894536,essv9894330,essv9894474,essv9894329,essv9894541,essv9894338,essv9894435,essv9894483,essv9894533,essv9894471,essv9894527,essv9894469,essv9894504,essv9894467,essv9894532,essv9894507,essv9894508,essv9894549,essv9894519,essv9894501,essv9894509,essv9894451,essv9894538,essv9894512,essv9894481,essv9894457,essv9894529,essv9894444,essv9894461,essv9894459,essv9894496,essv9894506,essv9894446,essv9894537,essv9894473,essv9894449,essv9894542,essv9894464,essv9894515,essv9894500,essv9894502,essv9894517,essv9894448,essv9894480,essv9894470,essv9894442,essv9894534,essv9894520,essv9894466,essv9894479,essv9894544,essv9894526,essv9894488,essv9894450,essv9894495,essv9894463,essv9894440,essv9894546,essv9894489,essv9894443,essv9894478,essv9894522,essv9894475,essv9894452,essv9894503,essv9894445,essv9894490,essv9894524,essv9894531,essv9894482,essv9894456,essv9894499,essv9894539,essv9894455,essv9894458,essv9894540,essv9894453,essv9894498,essv9894535,essv9894485,essv9894447,essv9894492,essv9894477,essv9894510,essv9894514,essv9894505,essv9894476,essv9894491,essv9894525,essv9894438,essv9894518,essv9894511,essv9894486,essv9894521,essv9894462,essv9894472,essv9894523,essv9894494,essv9894437,essv9894528,essv9894487 M 2504 0 228 RPA2,SMPDL3B,THEMIS2 HG00583,HG00638,HG00742,HG01063,HG01088,HG01162,HG01164,HG01176,HG01241,HG01302,HG01303,HG01311,HG01312,HG01323,HG01326,HG01392,HG01395,HG01396,HG01599,HG01600,HG01765,HG01786,HG01846,HG01850,HG01851,HG01853,HG01855,HG01858,HG01859,HG01870,HG01871,HG01872,HG01874,HG01878,HG01886,HG01893,HG01917,HG01921,HG01953,HG01968,HG01970,HG01973,HG01976,HG01977,HG01992,HG02049,HG02057,HG02069,HG02070,HG02075,HG02079,HG02121,HG02122,HG02127,HG02128,HG02188,HG02252,HG02253,HG02274,HG02345,HG02348,HG02439,HG02455,HG02490,HG02494,HG02521,HG02536,HG02541,HG02546,HG02549,HG02558,HG02577,HG02600,HG02648,HG02649,HG02652,HG02654,HG02655,HG02661,HG02682,HG02684,HG02685,HG02687,HG02688,HG02697,HG02699,HG02700,HG02724,HG02725,HG02727,HG02728,HG02734,HG02736,HG02737,HG02774,HG02780,HG02783,HG02784,HG02786,HG02787,HG02789,HG02790,HG02792,HG03015,HG03016,HG03018,HG03238,HG03478,HG03479,HG03490,HG03491,HG03629,HG03634,HG03640,HG03642,HG03643,HG03649,HG03652,HG03653,HG03660,HG03667,HG03672,HG03679,HG03685,HG03686,HG03687,HG03691,HG03693,HG03694,HG03697,HG03703,HG03709,HG03711,HG03714,HG03716,HG03717,HG03718,HG03731,HG03740,HG03742,HG03743,HG03744,HG03745,HG03746,HG03750,HG03755,HG03756,HG03760,HG03770,HG03771,HG03773,HG03775,HG03779,HG03780,HG03785,HG03788,HG03789,HG03792,HG03833,HG03836,HG03837,HG03838,HG03844,HG03846,HG03848,HG03849,HG03851,HG03856,HG03857,HG03858,HG03862,HG03866,HG03867,HG03868,HG03869,HG03871,HG03872,HG03882,HG03894,HG03895,HG03896,HG03897,HG03899,HG03900,HG03940,HG03944,HG03947,HG03949,HG03953,HG03963,HG03968,HG03971,HG03973,HG03974,HG03977,HG03978,HG03985,HG03986,HG03990,HG03999,HG04006,HG04017,HG04018,HG04019,HG04020,HG04026,HG04033,HG04035,HG04039,HG04047,HG04056,HG04093,HG04096,HG04098,HG04106,HG04107,HG04198,HG04200,HG04202,HG04211,HG04219,HG04229,HG04235,HG04239,NA18533,NA18592,NA18640,NA20890 esv3585565 1 28206060 28261986 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894554 M 2504 1 0 RPA2,SMPDL3B,THEMIS2 NA18610 nsv6331891 1 28213912 28218135 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060688 M 19652 0 1 RPA2 nsv4571946 1 28218899 28218900 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032044 M 10847 1 0 RPA2 nsv5418247 1 28225695 28225801 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901225 M 3202 0 1 RPA2 nsv6547916 1 28226002 28226193 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249056 M 19652 0 0 RPA2 nsv4042530 1 28226261 28231818 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851707 M 10847 0 1 RPA2 nsv5431879 1 28226489 28228041 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901226 M 3202 0 1 RPA2 nsv6328989 1 28226533 28228041 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060689 M 19652 0 1 RPA2 esv3585566 1 28229210 28230440 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894555 M 2504 0 1 RPA2 HG00250 nsv5424066 1 28229219 28230418 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901227 M 3202 0 1 RPA2 nsv5674892 1 28229283 28229283 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17191336 M 3202 1 0 RPA2 nsv5408043 1 28229283 28229334 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901229 M 3202 1 0 RPA2 nsv6536380 1 28231949 28232742 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249057 M 19652 0 0 RPA2 nsv1133128 1 28232336 28232432 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987948 M 2 1 0 RPA2 KWS1 nsv4532872 1 28232373 28232374 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032054 M 10847 1 0 RPA2 nsv4753626 1 28232374 28232374 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16277251 M 25 1 0 RPA2 esv3671028 1 28232389 28232389 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493130 M 20 1 0 RPA2 nsv3561959 1 28232389 28232389 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358389,nssv14358388,nssv14358394,nssv14358392,nssv14358391,nssv14358395,nssv14358393,nssv14358390 M 9 8 0 RPA2 HG00512,HG00513,HG00514,HG00731,HG00732,NA19238,NA19239,NA19240 nsv5553245 1 28232389 28232389 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901230 M 3202 1 0 RPA2 nsv5623827 1 28232389 28232389 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065076 M 35 1 0 RPA2 HG00731 nsv5966688 1 28232389 28232389 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17356755 M 914 1 0 RPA2 nsv6060298 1 28232389 28232389 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520950 M 405 1 0 RPA2 nsv3323839 1 28232399 28232399 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14483723,nssv14487809,nssv14487985,nssv14482161,nssv14475439,nssv14483119 M 14 6 0 RPA2 HG00514,HG02818,HG04217,HX1,NA19240,NA19434 nsv3523526 1 28232404 28232404 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392381,nssv14413853 M 9 2 0 RPA2 HG00514,NA19240 nsv5607516 1 28242663 28242663 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065077 M 35 1 0 "" HG03065 nsv4461107 1 28242663 28242664 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032071 M 10847 1 0 "" nsv5691945 1 28242676 28242676 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205727,nssv17191582 M 3202 2 0 "" nsv5411632 1 28242676 28242703 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901233 M 3202 1 0 "" nsv1075362 1 28243199 28243700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771758 M 1 0 1 "" KWP1 nsv6046555 1 28243317 28243317 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537191 M 405 1 0 "" nsv5618112 1 28243416 28243416 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065078 M 35 1 0 "" HG03065 nsv4751174 1 28243421 28243421 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16273728 M 25 1 0 "" nsv3541628 1 28243423 28243423 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379711 M 9 1 0 "" NA19240 nsv3537542 1 28243488 28243488 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440539 M 9 1 0 "" HG00733 nsv5608509 1 28243501 28243501 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065079 M 35 1 0 "" HG00732 nsv5608894 1 28243505 28243505 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065080 M 35 1 0 "" HG03065 nsv6060224 1 28243509 28243509 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522860 M 405 1 0 "" nsv5983976 1 28243512 28243578 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526056 M 405 0 1 "" nsv5544759 1 28243657 28243668 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901234 M 3202 1 0 "" nsv5415824 1 28243666 28247961 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901235 M 3202 0 1 "" nsv6328998 1 28243729 28253739 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060690 M 19652 0 1 "" dgv45n166 1 28243730 28253739 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4051891,nsv4033525 M 10847 0 2 "" nsv5420613 1 28244529 28251902 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901236 M 3202 0 1 "" nsv1144363 1 28246145 28246206 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995119 M 2 0 1 "" KWS1 esv2400943 1 28247621 28248290 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4647745 M 1 0 1 "" NA18507 esv6007 1 28247693 28248343 CNV loss Ahn_et_al_2009 19470904 Sequencing essv28448 M 1 0 0 "" esv3840 1 28247722 28248170 CNV loss Wang_et_al_2008 18987735 Sequencing essv26281 M 1 0 1 "" YH esv3559926 1 28247767 28248172 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758673 M 767 0 1 "" esv2745796 1 28247777 28248156 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6895856,essv6871729,essv6682840,essv6735984,essv6839990,essv6692785,essv6810347,essv6921741,essv6748564,essv6744949,essv6773449,essv6906109,essv6742156,essv6802487,essv6710603,essv6776950,essv6910063,essv6902554,essv6859205,essv6785006,essv6916852,essv6914008,essv6832612,essv6729640,essv6887486,essv6707279,essv6793307,essv6780889,essv6789169,essv6929068,essv6689275,essv6813181,essv6804412,essv6747794,essv6941800,essv6868725,essv6967945,essv6946512,essv6925702,essv6695787,essv6816832,essv6769536,essv6764174,essv6843903,essv6669354,essv6801629,essv6972371,essv6950340,essv6937697,essv6954768,essv6699606,essv6750617,essv6797462,essv6733495,essv6714260,essv6836202,essv6917449,essv6722018,essv6675214,essv6753508,essv6703874,essv6847039,essv6961579,essv6725859,essv6759062,essv6766561,essv6816601,essv6668974,essv6950579,essv6807384,essv6738822,essv6719031,essv6933323 M 96 0 73 "" SSM001,SSM002,SSM003,SSM004,SSM005,SSM006,SSM007,SSM008,SSM010,SSM013,SSM014,SSM015,SSM016,SSM017,SSM018,SSM019,SSM020,SSM021,SSM022,SSM023,SSM024,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM034,SSM036,SSM037,SSM039,SSM040,SSM041,SSM042,SSM043,SSM045,SSM046,SSM047,SSM049,SSM050,SSM052,SSM053,SSM055,SSM056,SSM057,SSM058,SSM061,SSM063,SSM064,SSM065,SSM066,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM073,SSM074,SSM075,SSM076,SSM077,SSM078,SSM082,SSM083,SSM084,SSM085,SSM086,SSM088,SSM090,SSM091,SSM099 nsv1150132 1 28247794 28248103 CNV deletion John_et_al_2014 26484159 Sequencing nssv4003429 M 1 0 1 "" KWB1 nsv1069068 1 28247799 28248107 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3771083 M 1 0 1 "" KWP1 nsv5571133 1 28247799 28248107 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065081 M 35 0 1 "" HG00731 nsv5874464 1 28247799 28248107 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351378 M 914 0 1 "" dgv68n106 1 28247799 28248108 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1133829,nsv1131723 M 2 0 2 "" KWS1,KWS2 nsv3944723 1 28247799 28248108 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182503 M 1 0 1 "" HG002 nsv4449163 1 28247799 28248108 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15757304 M 1 0 1 "" nsv5983661 1 28247799 28248108 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535050 M 405 0 1 "" esv3683107 1 28247799 28248109 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467873 M 20 0 1 "" dgv157n152 1 28247799 28248117 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3173882,nsv3524699,nsv3178330 M 9 0 9 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4390914 1 28247800 28248108 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15705737 M 174 0 1 "" nsv2801812 1 28247801 28248109 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13711575 M 2 0 1 "" nsv3323349 1 28247801 28248109 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14482457,nssv14480289,nssv14483609,nssv14482473,nssv14479633,nssv14487644,nssv14478303,nssv14477694,nssv14490672,nssv14478696 M 14 0 10 "" CHM1,CHM13,HG00514,HG00733,HG01352,HG02059,HG02818,NA12878,NA19240,NA19434 dgv9n140 1 28247801 28248110 CNV deletion Fan_et_al_2017 28104618 Sequencing nsv3055156,nsv3048697 M 2 0 2 "" CHM1,NA12878 nsv958063 1 28247805 28248097 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3005119 M 1 0 1 "" BILGI_BIOE nsv4732309 1 28247806 28248115 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278737 M 25 0 1 "" nsv4035197 1 28247807 28248108 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851711 M 10847 0 1 "" nsv5423346 1 28247807 28248108 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901237 M 3202 0 1 "" nsv6324269 1 28247807 28248108 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060691 M 19652 0 1 "" esv1132135 1 28247807 28248116 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4106955 M 2 0 1 "" HuRef nsv6323056 1 28248022 28263533 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203518 M 19652 1 0 SMPDL3B nsv4047009 1 28248066 28263537 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965473 M 10847 1 0 SMPDL3B nsv6047301 1 28248190 28248190 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529461 M 405 1 0 "" nsv4461334 1 28248190 28248191 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032079 M 10847 1 0 "" nsv3323350 1 28248191 28248191 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14489449 M 14 1 0 "" HX1 nsv5687233 1 28248206 28248206 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17190671 M 3202 1 0 "" nsv6240842 1 28248206 28248206 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17844066 M 1021 1 0 "" nsv5395300 1 28248206 28248257 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901239 M 3202 1 0 "" nsv5677938 1 28251282 28251282 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17192078 M 3202 1 0 "" nsv5408860 1 28251282 28251333 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901240 M 3202 1 0 "" nsv6553243 1 28255614 28256097 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249058 M 19652 0 0 "" nsv4319235 1 28255783 28256080 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789151 M 10847 0 0 "" nsv4323098 1 28257613 28467162 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789152 M 10847 0 0 EYA3,SMPDL3B,XKR8 dgv35n209 1 28258160 28261097 CNV deletion Almarri_et_al_2020 32531199 Sequencing nsv5879119,nsv5870980 M 914 0 2 "" nsv5416003 1 28258254 28261094 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901241 M 3202 0 1 "" nsv6322797 1 28258260 28261066 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060692 M 19652 0 1 "" nsv5829966 1 28258338 28259862 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453378 M 914 0 0 "" nsv3205382 1 28259455 28260058 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358522,nssv14358521 M 9 0 2 "" HG00731,HG00732 nsv6329091 1 28259796 28266068 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203519 M 19652 1 0 SMPDL3B nsv1155428 1 28260320 28270737 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4012212 M 131 0 1 SMPDL3B nsv4040428 1 28263230 28277021 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851712 M 10847 0 1 SMPDL3B nsv4560797 1 28269531 28269532 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032088 M 10847 1 0 SMPDL3B esv3664548 1 28273830 28273830 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487298 M 20 1 0 SMPDL3B nsv5566835 1 28273990 28274073 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065082 M 35 0 1 SMPDL3B NA19239 nsv5870633 1 28273990 28274073 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364241 M 914 0 1 SMPDL3B nsv3196604 1 28273990 28274074 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357434 M 9 0 1 SMPDL3B NA19239 nsv4045886 1 28273993 28274074 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851713 M 10847 0 1 SMPDL3B nsv5422301 1 28273993 28274074 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901242 M 3202 0 1 SMPDL3B esv3585567 1 28285714 28288380 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894556 M 2504 0 1 XKR8 HG01598 nsv5419268 1 28285814 28288398 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901243 M 3202 0 1 XKR8 nsv5886984 1 28286410 28286471 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356203 M 914 0 1 "" nsv4039508 1 28288000 28295000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851714 M 10847 0 1 XKR8 nsv4537930 1 28289270 28289271 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032097 M 10847 1 0 XKR8 nsv5536973 1 28289283 28289333 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901245 M 3202 1 0 XKR8 nsv945852 1 28293821 28294934 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758271,nssv1757680,nssv1757722,nssv1757689,nssv1758270,nssv1757727,nssv1757640,nssv1757703,nssv1757646,nssv1757705,nssv1757647,nssv1757699,nssv1757670,nssv1757679,nssv1757650,nssv1757713,nssv1757672,nssv1757707,nssv1757642,nssv1757732,nssv1758269,nssv1757690,nssv1757723,nssv1757731,nssv1757719,nssv1757682,nssv1757641,nssv1757709,nssv1757661,nssv1757687,nssv1757721,nssv1757726,nssv1757663,nssv1757704,nssv1757659,nssv1757700,nssv1757652,nssv1757686,nssv1757718,nssv1757675,nssv1757665,nssv1757733,nssv1757664,nssv1757692,nssv1757648,nssv1757694,nssv1757714,nssv1757706,nssv1757716,nssv1757708,nssv1757649,nssv1757681,nssv1757717,nssv1757677,nssv1757720,nssv1757698,nssv1757715,nssv1757695,nssv1757657,nssv1757710,nssv1757673,nssv1757725,nssv1757669,nssv1757729,nssv1757645,nssv1757683,nssv1757667,nssv1757693,nssv1757674,nssv1757724,nssv1757658,nssv1757678,nssv1757656,nssv1757697,nssv1757668,nssv1757730,nssv1757671,nssv1757702,nssv1757655,nssv1757728,nssv1757653,nssv1757696,nssv1757662,nssv1757685,nssv1757651,nssv1757691,nssv1757660,nssv1757676,nssv1757654,nssv1757684,nssv1757643,nssv1757711,nssv1757644,nssv1757712,nssv1757666,nssv1757688,nssv1757701 M 97 10 0 XKR8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5678953 1 28301262 28301262 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17190749 M 3202 1 0 EYA3 nsv5395699 1 28301262 28301313 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901246 M 3202 1 0 EYA3 nsv4035339 1 28302319 28302654 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851715 M 10847 0 1 EYA3 nsv6536922 1 28302839 28303516 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249059 M 19652 0 0 EYA3 nsv6315752 1 28305993 28314787 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060693 M 19652 0 1 EYA3 nsv5688050 1 28311365 28311365 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17191948 M 3202 1 0 EYA3 nsv5409135 1 28311365 28311400 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901248 M 3202 1 0 EYA3 nsv5881554 1 28312662 28312737 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367996 M 914 0 1 EYA3 nsv6543502 1 28312735 28313023 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249060 M 19652 0 0 EYA3 nsv1122316 1 28313096 28313163 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970524 M 2 0 1 EYA3 KWS2 nsv4562565 1 28317771 28317772 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032106 M 10847 1 0 EYA3 nsv5720998 1 28317786 28317786 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17244911 M 3202 1 0 EYA3 nsv5561614 1 28317786 28317837 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901249 M 3202 1 0 EYA3 nsv4535722 1 28318284 28318285 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029594 M 10847 1 0 EYA3 nsv5722148 1 28318295 28318295 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17245488,nssv17252014 M 3202 2 0 EYA3 nsv4536473 1 28319767 28319768 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029604 M 10847 1 0 EYA3 nsv5690417 1 28319777 28319777 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17190830 M 3202 1 0 EYA3 nsv5409045 1 28319777 28319828 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901250 M 3202 1 0 EYA3 nsv6549328 1 28321923 28322314 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249061 M 19652 0 0 EYA3 esv2255639 1 28327785 28328232 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4919567 M 1 0 1 EYA3 NA18507 nsv5570531 1 28327955 28328054 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065083 M 35 0 1 EYA3 NA19239 nsv5873799 1 28327955 28328054 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356222 M 914 0 1 EYA3 nsv3524864 1 28327955 28328055 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357466 M 9 0 1 EYA3 NA19239 nsv4039043 1 28327955 28328055 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851716 M 10847 0 1 EYA3 esv2641492 1 28327956 28328055 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5244068 M 1 0 1 EYA3 NA18507 nsv6547105 1 28328233 28328722 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249062 M 19652 0 0 EYA3 nsv6536929 1 28328561 28329192 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249063 M 19652 0 0 EYA3 nsv998557 1 28328908 28403096 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3479185 M 11257 1 0 EYA3 dgv139n223 1 28332628 28333858 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6553833,nsv6548803 M 19652 0 0 EYA3 nsv4046955 1 28332970 28333088 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851717 M 10847 0 1 EYA3 nsv3323545 1 28339593 28339662 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478709 M 14 0 1 EYA3 NA12878 esv3668210 1 28340956 28341034 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490593 M 20 0 0 EYA3 nsv4571239 1 28342376 28342377 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029612 M 10847 1 0 EYA3 nsv4516913 1 28344300 28344403 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851719 M 10847 0 1 EYA3 nsv6546756 1 28345460 28346217 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249066 M 19652 0 0 EYA3 nsv6323780 1 28348693 28352001 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060694 M 19652 0 1 EYA3 nsv5417743 1 28349266 28349758 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901252 M 3202 0 1 EYA3 nsv6240952 1 28349601 28349601 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17844067 M 1021 1 0 EYA3 nsv4032633 1 28350546 28360082 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965474 M 10847 1 0 EYA3 nsv6536809 1 28352488 28353125 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249067 M 19652 0 0 EYA3 nsv947420 1 28354124 28359199 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2760201 M 97 1 0 EYA3 HGDP00998 nsv4570049 1 28359067 28359068 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029620 M 10847 1 0 EYA3 nsv4461335 1 28365740 28365741 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029629 M 10847 1 0 EYA3 nsv6330618 1 28369491 28374212 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060695 M 19652 0 1 EYA3 nsv5829939 1 28374897 28378051 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464337 M 914 0 0 EYA3 nsv6551966 1 28379375 28381974 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249068 M 19652 0 0 EYA3 nsv6322168 1 28381770 28401712 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060696 M 19652 0 1 EYA3 nsv5623026 1 28381982 28381982 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065084 M 35 1 0 EYA3 HG03486 nsv4535960 1 28381982 28381983 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029638 M 10847 1 0 EYA3 nsv4752947 1 28386983 28386983 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16296629 M 25 1 0 EYA3 nsv4461862 1 28387916 28387917 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029645 M 10847 1 0 EYA3 nsv6547067 1 28389241 28389902 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249069 M 19652 0 0 EYA3 nsv4537735 1 28391086 28391087 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029651 M 10847 1 0 EYA3 nsv6334385 1 28391506 28392986 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060697 M 19652 0 1 EYA3 nsv6544124 1 28391797 28392256 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249070 M 19652 0 0 EYA3 nsv4461336 1 28392961 28392962 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029670 M 10847 1 0 EYA3 nsv4534036 1 28393474 28393475 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029681 M 10847 1 0 EYA3 nsv4461337 1 28394112 28394113 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029691 M 10847 1 0 EYA3 nsv5677802 1 28394127 28394127 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205728,nssv17192648 M 3202 2 0 EYA3 nsv5408175 1 28394127 28394178 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901255 M 3202 1 0 EYA3 nsv6543826 1 28394859 28395329 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249071 M 19652 0 0 EYA3 nsv6326447 1 28396980 28399935 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060698 M 19652 0 1 EYA3 nsv6545118 1 28397016 28397590 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249640 M 19652 0 0 EYA3 nsv4461338 1 28400445 28400446 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029702 M 10847 1 0 EYA3 nsv4033827 1 28401884 28401975 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851720 M 10847 0 1 EYA3 nsv6537264 1 28402926 28403386 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249641 M 19652 0 0 EYA3 nsv5829940 1 28404111 28405657 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466427 M 914 0 0 EYA3 nsv5684889 1 28405519 28405519 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17192153 M 3202 1 0 EYA3 nsv5412091 1 28405519 28405570 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901257 M 3202 1 0 EYA3 nsv4461339 1 28406464 28406465 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029711 M 10847 1 0 EYA3 nsv6317289 1 28416005 28417135 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060699 M 19652 0 1 "" nsv6548754 1 28416976 28418434 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249642 M 19652 0 0 "" nsv945853 1 28421658 28422888 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757736,nssv1757798,nssv1757735,nssv1757822,nssv1757819,nssv1757780,nssv1757744,nssv1757781,nssv1757743,nssv1757785,nssv1757737,nssv1757782,nssv1757747,nssv1757773,nssv1757767,nssv1757809,nssv1757738,nssv1757776,nssv1757813,nssv1757808,nssv1757820,nssv1757802,nssv1757750,nssv1757827,nssv1757745,nssv1757800,nssv1757765,nssv1757810,nssv1757755,nssv1757799,nssv1757818,nssv1757801,nssv1757752,nssv1757774,nssv1757757,nssv1757804,nssv1757761,nssv1757797,nssv1757759,nssv1757825,nssv1757746,nssv1757828,nssv1757770,nssv1757829,nssv1757758,nssv1757823,nssv1757739,nssv1757783,nssv1757769,nssv1757796,nssv1757817,nssv1757830,nssv1757742,nssv1757806,nssv1757811,nssv1757786,nssv1757754,nssv1757779,nssv1757814,nssv1757784,nssv1757764,nssv1757807,nssv1757751,nssv1757792,nssv1757816,nssv1757805,nssv1757734,nssv1757795,nssv1757756,nssv1757777,nssv1757766,nssv1757778,nssv1757812,nssv1757788,nssv1757768,nssv1757787,nssv1757763,nssv1757803,nssv1757748,nssv1757772,nssv1757771,nssv1757789,nssv1757741,nssv1757791,nssv1757753,nssv1757826,nssv1757760,nssv1757775,nssv1757815,nssv1757790,nssv1757762,nssv1757824,nssv1757740,nssv1757793,nssv1757749,nssv1757821,nssv1757794 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv1133830 1 28423927 28423979 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970153 M 2 0 1 "" KWS2 nsv6551491 1 28423963 28424396 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249643 M 19652 0 0 "" nsv6323547 1 28425204 28436192 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203520 M 19652 1 0 "" nsv6548204 1 28425210 28426148 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249644 M 19652 0 0 "" nsv6333332 1 28426212 28427511 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060700 M 19652 0 1 "" nsv5425319 1 28426227 28427493 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901259 M 3202 0 1 "" nsv4042366 1 28426363 28426708 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851721 M 10847 0 1 "" nsv5433342 1 28426993 28427513 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901260 M 3202 0 1 "" nsv6543266 1 28427141 28427541 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249645 M 19652 0 0 "" nsv5427616 1 28427488 28427951 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901261 M 3202 0 1 "" nsv4516705 1 28427554 28427951 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851722 M 10847 0 1 "" nsv4460805 1 28434202 28434203 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029727 M 10847 1 0 "" nsv6334785 1 28435914 28436489 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060702 M 19652 0 1 "" nsv6551888 1 28440048 28440565 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249646 M 19652 0 0 "" nsv6330589 1 28440602 28442065 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059709 M 19652 0 1 "" nsv5424405 1 28444852 28445156 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901263 M 3202 0 1 "" esv2665172 1 28445900 28448371 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6553486 M 1151 0 1 "" HG00281 esv3585570 1 28445925 28448335 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894559 M 2504 0 1 "" HG00281 nsv5422005 1 28445950 28448323 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901264 M 3202 0 1 "" nsv6323207 1 28445950 28448323 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059710 M 19652 0 1 "" nsv6325230 1 28448112 28449511 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059711 M 19652 0 1 "" esv3664567 1 28448292 28448292 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487313 M 20 1 0 "" nsv5829675 1 28448310 28449609 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452356 M 914 0 0 "" nsv5883510 1 28448336 28449606 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364716 M 914 0 1 "" nsv4033460 1 28448364 28449594 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851723 M 10847 0 1 "" nsv6328162 1 28450088 28450606 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059712 M 19652 0 1 "" nsv5880728 1 28450268 28450548 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359608 M 914 0 1 "" nsv5684200 1 28450271 28450271 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205729 M 3202 1 0 "" nsv4040079 1 28450271 28450549 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851724 M 10847 0 1 "" nsv5418785 1 28450271 28450549 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901265 M 3202 0 1 "" nsv6331908 1 28451016 28454851 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059713 M 19652 0 1 "" nsv4041045 1 28455319 28456264 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851725 M 10847 0 1 "" esv2671570 1 28457852 28458534 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6521150,essv6265668,essv6279414 M 1151 0 3 "" HG00732,HG01055,HG01072 esv3585571 1 28457880 28458380 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894560,essv9894561,essv9894562 M 2504 0 3 "" HG00732,HG01055,HG01072 nsv5577394 1 28458018 28458507 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065085 M 35 0 1 "" HG00732 nsv3198915 1 28458018 28458508 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357502 M 9 0 1 "" HG00732 nsv4039066 1 28458038 28458487 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851727 M 10847 0 1 "" nsv6137990 1 28458038 28458497 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900269 M 3202 0 1 "" nsv6327185 1 28458045 28458488 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059714 M 19652 0 1 "" nsv5829967 1 28458282 28465681 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457027 M 914 0 0 "" nsv5879707 1 28458293 28467166 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17354083 M 914 1 0 "" nsv4052071 1 28458293 28467170 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965475 M 10847 1 0 "" nsv4537131 1 28466597 28466598 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029733 M 10847 1 0 "" nsv5548276 1 28466611 28466611 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900270 M 3202 1 0 "" nsv5962704 1 28466611 28466611 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354355 M 914 1 0 "" nsv5421677 1 28472036 28475730 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683872 M 3202 0 1 PTAFR esv2678105 1 28472036 28475736 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6176068 M 1151 0 1 PTAFR NA19009 esv3585573 1 28472089 28475854 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894610 M 2504 0 1 PTAFR NA19009 esv3359002 1 28476165 28477663 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692280 M 185 1 0 PTAFR NA19239 nsv3196255 1 28478462 28479192 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357530 M 9 0 1 PTAFR HG00514 nsv5432328 1 28481279 28485006 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900272 M 3202 1 0 PTAFR nsv6551146 1 28481331 28481778 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249647 M 19652 0 0 PTAFR esv3585574 1 28481740 28484057 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894611 M 2504 0 1 PTAFR HG02002 nsv5419759 1 28481752 28484053 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683873 M 3202 0 1 PTAFR nsv6546174 1 28484384 28485214 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249648 M 19652 0 0 PTAFR nsv3171552 1 28484868 28485659 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14445628 M 9 0 0 PTAFR HG00733 nsv4558717 1 28485208 28485209 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029744 M 10847 1 0 PTAFR nsv6050074 1 28485216 28485216 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525484 M 405 1 0 PTAFR nsv6332071 1 28487919 28488537 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059716 M 19652 0 1 PTAFR nsv7546 1 28492212 28509966 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8875 M 9 0 1 PTAFR NA12156 nsv4043966 1 28492341 28495192 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851728 M 10847 0 1 PTAFR nsv6335245 1 28497289 28499844 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059717 M 19652 0 1 PTAFR nsv4048598 1 28497290 28499844 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15851729 M 10847 0 1 PTAFR esv3370107 1 28508542 28508542 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740958 M 185 1 0 PTAFR NA19240 nsv5620170 1 28509553 28509553 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065086 M 35 1 0 PTAFR HG01114 nsv4461863 1 28509553 28509554 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029745 M 10847 1 0 PTAFR nsv5680566 1 28509569 28509569 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17192790,nssv17205731 M 3202 2 0 PTAFR nsv6241063 1 28509569 28509569 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17844068 M 1021 1 0 PTAFR nsv5540427 1 28509569 28509604 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900274 M 3202 1 0 PTAFR nsv473375 1 28513694 28513694 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017047 M 9 1 0 PTAFR NA19129 nsv3561690 1 28515474 28515474 CNV sva insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358190,nssv14358194,nssv14358195,nssv14358192,nssv14358189,nssv14358196,nssv14358188,nssv14358193,nssv14358191 M 9 9 0 PTAFR HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv6241174 1 28515474 28515474 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17844097 M 1021 1 0 PTAFR nsv4536276 1 28515692 28515693 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16029746 M 10847 1 0 PTAFR nsv6539702 1 28516040 28516259 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249649 M 19652 0 0 PTAFR nsv4537312 1 28522983 28522984 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030307 M 10847 1 0 "" nsv6551001 1 28528148 28529071 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249650 M 19652 0 0 DNAJC8 esv3664572 1 28533658 28533658 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487318 M 20 1 0 DNAJC8 nsv4461864 1 28535044 28535045 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030308 M 10847 1 0 DNAJC8 nsv545916 1 28535233 28950862 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712049 M 17421 1 0 ATPIF1,DNAJC8,MED18,PHACTR4,RAB42,RCC1,SESN2,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,TAF12,TRNAU1AP nsv4562620 1 28539108 28539109 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030309 M 10847 1 0 DNAJC8 nsv3116922 1 28539653 28562190 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14105687 M 467 0 1 DNAJC8 sample54 nsv4537574 1 28540546 28540547 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030310 M 10847 1 0 DNAJC8 nsv5416351 1 28542078 28543349 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900275 M 3202 0 1 DNAJC8 nsv6321327 1 28542380 28543736 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059718 M 19652 0 1 DNAJC8 nsv6322014 1 28542664 28545221 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203521 M 19652 1 0 DNAJC8 nsv5426504 1 28542707 28543937 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900276 M 3202 0 1 DNAJC8 nsv6322008 1 28542712 28546011 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059719 M 19652 0 1 DNAJC8 nsv5880759 1 28542859 28545464 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351889 M 914 0 1 DNAJC8 nsv945854 1 28543069 28545589 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757833,nssv1757888,nssv1757841,nssv1757918,nssv1757832,nssv1757893,nssv1757834,nssv1757890,nssv1757916,nssv1757891,nssv1757840,nssv1757869,nssv1757843,nssv1757875,nssv1757858,nssv1757873,nssv1757914,nssv1757885,nssv1757856,nssv1757921,nssv1757848,nssv1757874,nssv1757868,nssv1757882,nssv1757853,nssv1757924,nssv1757909,nssv1757923,nssv1757836,nssv1757906,nssv1757831,nssv1757897,nssv1757863,nssv1757884,nssv1757912,nssv1757877,nssv1757857,nssv1757878,nssv1757860,nssv1757872,nssv1757917,nssv1757870,nssv1757846,nssv1757919,nssv1757854,nssv1757895,nssv1757913,nssv1757879,nssv1757845,nssv1757922,nssv1757864,nssv1757896,nssv1757867,nssv1757898,nssv1757839,nssv1757899,nssv1757847,nssv1757907,nssv1757866,nssv1757887,nssv1757915,nssv1757927,nssv1757850,nssv1757880,nssv1757910,nssv1757901,nssv1757852,nssv1757883,nssv1757859,nssv1757889,nssv1757835,nssv1757894,nssv1757862,nssv1757903,nssv1757855,nssv1757920,nssv1757908,nssv1757926,nssv1757849,nssv1757905,nssv1757911,nssv1757871,nssv1757842,nssv1757881,nssv1757837,nssv1757886,nssv1757838,nssv1757876,nssv1757844,nssv1757900,nssv1757851,nssv1757892,nssv1757861,nssv1757925,nssv1757865,nssv1757902,nssv1757904 M 97 10 0 DNAJC8 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 dgv36n209 1 28543246 28545346 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5829968,nsv5829941 M 914 0 0 DNAJC8 dgv46n166 1 28543944 28547556 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4044501,nsv4517537 M 10847 0 2 DNAJC8 nsv5421362 1 28544005 28545323 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900277 M 3202 0 1 DNAJC8 nsv6319885 1 28544021 28545290 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059720 M 19652 0 1 DNAJC8 nsv6318966 1 28547626 28571725 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203522 M 19652 1 0 ATPIF1,DNAJC8 nsv4036083 1 28549140 28550195 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849574 M 10847 0 1 DNAJC8 nsv6544147 1 28550795 28551395 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249651 M 19652 0 0 DNAJC8 nsv3323840 1 28551329 28551509 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14486089 M 14 0 1 DNAJC8 HG02818 esv3559959 1 28551333 28554125 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758706 M 767 0 1 DNAJC8 nsv5581855 1 28551345 28554052 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065090 M 35 0 1 DNAJC8 HG02818 nsv5883681 1 28551345 28554052 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360777 M 914 0 1 DNAJC8 esv2674175 1 28551345 28554060 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5727964,essv5518849,essv5931775,essv6381390,essv5916020,essv6039336,essv5679754,essv6150745,essv5835053,essv5690757,essv5764259,essv5703707,essv6525251,essv6559029,essv5617150,essv5628829,essv6450521,essv5498108,essv6273074,essv6389834,essv6108476,essv5754896,essv5678681,essv5437382,essv5456362,essv6147927,essv6216120,essv5639784,essv5784064,essv5663258,essv5908178,essv5442852,essv6140953,essv5920560,essv5679307,essv6532214,essv5893505,essv6165694 M 1151 0 38 DNAJC8 HG00173,HG00180,HG00245,HG00312,HG00323,HG00342,HG01107,HG01204,HG01354,HG01465,NA07051,NA11930,NA11994,NA12383,NA12546,NA18519,NA18856,NA18917,NA18923,NA19312,NA19313,NA19331,NA19334,NA19463,NA19648,NA19700,NA19711,NA19755,NA19780,NA19901,NA20294,NA20503,NA20529,NA20543,NA20586,NA20770,NA20807,NA20816 nsv5829821 1 28551347 28552846 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453959 M 914 0 0 DNAJC8 nsv5829969 1 28551348 28553968 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468343 M 914 0 0 DNAJC8 esv3585575 1 28551353 28554072 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894686,essv9894644,essv9894689,essv9894645,essv9894693,essv9894642,essv9894692,essv9894635,essv9894694,essv9894640,essv9894690,essv9894641,essv9894687,essv9894637,essv9894688,essv9894638,essv9894691,essv9894636,essv9894684,essv9894646,essv9894683,essv9894639,essv9894685,essv9894643,essv9894650,essv9894710,essv9894664,essv9894722,essv9894656,essv9894702,essv9894652,essv9894706,essv9894648,essv9894698,essv9894653,essv9894721,essv9894662,essv9894699,essv9894661,essv9894712,essv9894657,essv9894717,essv9894659,essv9894695,essv9894651,essv9894704,essv9894663,essv9894714,essv9894660,essv9894719,essv9894649,essv9894716,essv9894647,essv9894708,essv9894654,essv9894697,essv9894655,essv9894711,essv9894658,essv9894701,essv9894618,essv9894718,essv9894613,essv9894707,essv9894614,essv9894715,essv9894612,essv9894720,essv9894615,essv9894705,essv9894617,essv9894703,essv9894616,essv9894700,essv9894624,essv9894709,essv9894623,essv9894696,essv9894627,essv9894713,essv9894622,essv9894677,essv9894632,essv9894667,essv9894630,essv9894680,essv9894621,essv9894671,essv9894629,essv9894673,essv9894619,essv9894678,essv9894620,essv9894682,essv9894626,essv9894665,essv9894628,essv9894666,essv9894634,essv9894679,essv9894633,essv9894674,essv9894631,essv9894669,essv9894625,essv9894681,essv9894670,essv9894668,essv9894676,essv9894672,essv9894675 M 2504 0 111 DNAJC8 HG00103,HG00173,HG00180,HG00245,HG00323,HG00342,HG00368,HG01107,HG01122,HG01200,HG01204,HG01281,HG01323,HG01354,HG01369,HG01396,HG01465,HG01485,HG01500,HG01537,HG01612,HG01623,HG01630,HG01695,HG01705,HG01708,HG01770,HG01791,HG01894,HG01958,HG02006,HG02054,HG02298,HG02433,HG02449,HG02484,HG02610,HG02634,HG02763,HG02810,HG02816,HG02890,HG02970,HG03009,HG03027,HG03049,HG03081,HG03136,HG03157,HG03168,HG03303,HG03382,HG03469,HG03518,HG03558,HG03559,HG03698,HG03709,HG03746,HG03887,HG03925,HG04042,HG04094,HG04152,HG04173,NA07051,NA11930,NA11994,NA12383,NA12546,NA12716,NA12815,NA12830,NA12874,NA18519,NA18856,NA18917,NA18923,NA19036,NA19200,NA19312,NA19331,NA19334,NA19463,NA19648,NA19669,NA19700,NA19711,NA19755,NA19780,NA19785,NA19901,NA19922,NA20126,NA20281,NA20294,NA20503,NA20514,NA20529,NA20539,NA20540,NA20543,NA20586,NA20770,NA20807,NA20854,NA20861,NA20889,NA21099,NA21123,NA21141 nsv4042124 1 28551363 28554053 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849575 M 10847 0 1 DNAJC8 nsv5419684 1 28551363 28554053 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900278 M 3202 0 1 DNAJC8 dgv140n223 1 28551363 28554311 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6321224,nsv6319105 M 19652 0 2 DNAJC8 nsv6324874 1 28551512 28552811 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059722 M 19652 0 1 DNAJC8 nsv3323841 1 28551531 28554061 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484923 M 14 0 1 DNAJC8 HG02818 nsv6332138 1 28553831 28554729 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059724 M 19652 0 1 DNAJC8 esv3664576 1 28553918 28553918 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487321 M 20 1 0 DNAJC8 nsv4460806 1 28554258 28554259 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030311 M 10847 1 0 DNAJC8 nsv6328964 1 28559900 28560515 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203523 M 19652 1 0 "" nsv4048097 1 28562483 28562544 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849576 M 10847 0 1 "" nsv545917 1 28564279 28650377 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712050 M 17421 0 1 ATPIF1,SESN2 nsv819729 1 28564466 28572232 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419841 M 2 0 1 ATPIF1 AK1 nsv4037918 1 28564688 28564781 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849577 M 10847 0 1 "" nsv6324447 1 28564913 28566266 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203524 M 19652 1 0 "" nsv6325019 1 28569089 28571746 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059725 M 19652 0 1 "" nsv6138297 1 28569674 28575674 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900279 M 3202 1 0 "" esv3674734 1 28570179 28570180 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496464 M 20 0 0 "" nsv545918 1 28570806 28607616 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712051 M 17421 0 1 SESN2 nsv5829942 1 28570887 28571886 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457736 M 914 0 0 "" nsv5881960 1 28570942 28572137 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352818 M 914 0 1 "" nsv6325907 1 28570942 28572138 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059726 M 19652 0 1 "" nsv5428201 1 28570971 28572159 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900280 M 3202 0 1 "" nsv4037626 1 28571000 28576000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965476 M 10847 1 0 "" nsv4755939 1 28573637 28573637 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16273064 M 25 1 0 "" nsv3324241 1 28573638 28573638 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477592,nssv14483220,nssv14486717,nssv14477302 M 14 4 0 "" HG00733,HG02818,HX1,NA19434 esv3664587 1 28573642 28573642 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487331 M 20 1 0 "" nsv3947949 1 28573642 28573642 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193121 M 1 1 0 "" HG002 nsv4444708 1 28573642 28573642 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15764538 M 1 1 0 "" nsv5607318 1 28573642 28573642 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065091 M 35 1 0 "" HG00732 nsv6044029 1 28573642 28573642 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528331 M 405 1 0 "" nsv3064108 1 28573644 28573644 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035474 M 2 1 0 "" NA12878 nsv3540062 1 28573646 28573646 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440540 M 9 1 0 "" HG00733 nsv3532859 1 28573655 28573655 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376535 M 9 1 0 "" NA19240 nsv5681477 1 28573669 28573669 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205732,nssv17192217 M 3202 2 0 "" nsv5963043 1 28573669 28573669 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17357721 M 914 1 0 "" nsv6241285 1 28573669 28573669 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17844158 M 1021 1 0 "" nsv6548319 1 28574943 28580431 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249652 M 19652 0 0 "" nsv6329624 1 28574943 28584988 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059727 M 19652 0 1 "" nsv4461108 1 28576675 28576676 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030312 M 10847 1 0 "" nsv6536554 1 28577318 28578376 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249653 M 19652 0 0 "" nsv6331885 1 28577341 28582153 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059728 M 19652 0 1 "" nsv3191053 1 28577439 28578017 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358241,nssv14358240 M 9 0 2 "" HG00512,NA19238 nsv5426158 1 28578237 28581714 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900282 M 3202 0 1 "" nsv6241302 1 28579752 28579752 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17844159 M 1021 1 0 "" nsv5983889 1 28581634 28588332 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523568 M 405 0 1 SESN2 nsv4049510 1 28584182 28590689 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965477 M 10847 1 0 SESN2 nsv6241313 1 28591232 28591232 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17844160 M 1021 1 0 SESN2 esv994212 1 28597404 28607470 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564064 M 3 0 1 SESN2 HuRef nsv5685403 1 28597827 28597827 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205733,nssv17190900 M 3202 2 0 SESN2 nsv5397864 1 28597827 28597878 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900284 M 3202 1 0 SESN2 nsv4041584 1 28602393 28721194 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965478 M 10847 1 0 MED18,PHACTR4,SESN2 nsv6326563 1 28604545 28630198 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203525 M 19652 1 0 SESN2 nsv6320988 1 28610275 28613233 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203526 M 19652 1 0 "" nsv6334730 1 28610923 28614877 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059729 M 19652 0 1 "" esv3664595 1 28612598 28612598 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487339 M 20 1 0 "" nsv5887515 1 28613152 28616431 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17363951 M 914 1 0 "" nsv6324474 1 28616245 28619135 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059730 M 19652 0 1 "" esv2452579 1 28621066 28622571 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5173712 M 1 0 1 "" NA18507 nsv5885520 1 28621277 28621745 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363671 M 914 0 1 "" esv1987510 1 28621432 28621852 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4722951 M 1 0 1 "" NA18507 esv3559970 1 28621502 28621756 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758717 M 767 0 1 "" esv2745808 1 28621541 28621903 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6773450,essv6756563 M 96 0 2 "" SSM059,SSM066 nsv5571164 1 28621551 28621746 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065092 M 35 0 1 "" HG03125 nsv5874487 1 28621551 28621746 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368814 M 914 0 1 "" nsv3323547 1 28621553 28621748 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14485020 M 14 0 1 "" HG02818 nsv5983978 1 28621564 28621761 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521922 M 405 0 1 "" nsv5963476 1 28621747 28621747 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17369181 M 914 1 0 "" nsv6334360 1 28624126 28627314 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203527 M 19652 1 0 "" nsv5421495 1 28625423 28626984 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900286 M 3202 0 1 "" esv3585577 1 28625434 28627081 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894724 M 2504 0 1 "" HG01841 nsv6335141 1 28625444 28632484 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059731 M 19652 0 1 "" nsv6059654 1 28626660 28626660 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528589 M 405 1 0 "" nsv5881087 1 28626675 28626978 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350375 M 914 0 1 "" dgv141n223 1 28632077 28632684 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6545333,nsv6544348 M 19652 0 0 "" nsv5424409 1 28632398 28636763 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900287 M 3202 1 0 "" nsv6326501 1 28632406 28634081 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059732 M 19652 0 1 "" nsv5829676 1 28632480 28633861 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468666,nssv17460604 M 914 0 0 "" nsv6333599 1 28633661 28634189 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203528 M 19652 1 0 "" nsv4045804 1 28633744 28634042 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965479 M 10847 1 0 "" nsv4036310 1 28633993 28635030 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965850 M 10847 1 0 "" nsv6329938 1 28634117 28634734 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059733 M 19652 0 1 "" nsv6535908 1 28634254 28634737 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249656 M 19652 0 0 "" nsv5421586 1 28634439 28642705 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900288 M 3202 1 0 "" nsv4460807 1 28635157 28635158 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032108 M 10847 1 0 "" nsv945855 1 28637289 28640640 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757930,nssv1758604,nssv1757929,nssv1758606,nssv1758629,nssv1758607,nssv1757931,nssv1758590,nssv1757938,nssv1758593,nssv1757937,nssv1758603,nssv1757942,nssv1758605,nssv1758574,nssv1758639,nssv1757941,nssv1758634,nssv1757943,nssv1758635,nssv1758569,nssv1758589,nssv1758624,nssv1758585,nssv1757939,nssv1758619,nssv1757928,nssv1758601,nssv1758625,nssv1758636,nssv1757933,nssv1758611,nssv1758630,nssv1758591,nssv1758571,nssv1758616,nssv1758628,nssv1758640,nssv1758567,nssv1758615,nssv1758570,nssv1758632,nssv1758626,nssv1758587,nssv1757932,nssv1758631,nssv1758579,nssv1758608,nssv1758627,nssv1758596,nssv1758576,nssv1758592,nssv1758623,nssv1758609,nssv1757936,nssv1758588,nssv1758581,nssv1758598,nssv1757944,nssv1758582,nssv1758622,nssv1758612,nssv1758580,nssv1758595,nssv1758564,nssv1758610,nssv1758578,nssv1758617,nssv1758572,nssv1758633,nssv1757934,nssv1758594,nssv1758566,nssv1758614,nssv1757940,nssv1758637,nssv1757946,nssv1758584,nssv1758565,nssv1758586,nssv1758568,nssv1758583,nssv1757935,nssv1758620,nssv1757945,nssv1758602,nssv1758577,nssv1758597,nssv1757947,nssv1758613,nssv1758621,nssv1758638,nssv1758573,nssv1758600,nssv1758575,nssv1758599,nssv1758618 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6332862 1 28646312 28649611 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059734 M 19652 0 1 "" nsv480459 1 28648891 28648891 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020056 M 9 0 0 "" nsv4049750 1 28650408 28650480 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965851 M 10847 1 0 "" esv3585578 1 28653002 28655112 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894727,essv9894725,essv9894728,essv9894726 M 2504 0 4 "" HG02944,HG03108,NA18861,NA19129 nsv5413930 1 28653015 28655119 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900290 M 3202 0 1 "" nsv6319345 1 28653015 28655119 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059735 M 19652 0 1 "" nsv4041057 1 28653015 28655130 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849579 M 10847 0 1 "" esv27407 1 28653097 28654894 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv20171 M 40 0 2 "" NA18861,NA19129 nsv4041506 1 28655941 28656227 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849580 M 10847 0 1 MED18 nsv6324099 1 28656724 28657694 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203529 M 19652 1 0 MED18 nsv4516614 1 28656776 28657690 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965852 M 10847 1 0 MED18 nsv6051016 1 28659227 28659227 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517783 M 405 1 0 MED18 nsv3220004 1 28662314 28686926 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261229,nssv14261225,nssv14261227,nssv14261228,nssv14261226 M 9 5 0 MED18 HG00731,HG00733,NA19238,NA19239,NA19240 nsv3212045 1 28662314 28746892 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271087 M 9 1 0 MED18,PHACTR4 HG00512 nsv6334096 1 28663152 28693498 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203530 M 19652 1 0 "" nsv4050225 1 28663157 28693506 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965853 M 10847 1 0 "" nsv7557 1 28663633 28695510 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2893,nssv4043,nssv1003,nssv6496 M 9 4 0 "" NA12156,NA12878,NA18555,NA19240 nsv4561492 1 28664632 28664633 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032109 M 10847 1 0 "" nsv6541860 1 28664665 28666341 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249657 M 19652 0 0 "" nsv5829822 1 28670097 28677659 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459542 M 914 0 0 "" nsv5829970 1 28670697 28671796 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466475,nssv17455915 M 914 0 0 "" nsv6316746 1 28671220 28684346 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203531 M 19652 1 0 "" nsv5431137 1 28672634 28678023 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900291 M 3202 0 1 "" nsv6552062 1 28673501 28673953 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249658 M 19652 0 0 "" nsv6316571 1 28673811 28679880 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203532 M 19652 1 0 "" nsv6554452 1 28673837 28674339 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249659 M 19652 0 0 "" nsv4039951 1 28675389 28675485 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849581 M 10847 0 1 "" nsv5886033 1 28675723 28675973 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350363 M 914 0 1 "" nsv5829677 1 28675842 28677859 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459868,nssv17469624 M 914 0 0 "" nsv6554892 1 28676189 28676798 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18249660 M 19652 0 0 "" nsv6549968 1 28676235 28677045 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252287 M 19652 0 0 "" nsv6054851 1 28676342 28676342 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529661 M 405 1 0 "" nsv6325649 1 28676434 28677353 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059736 M 19652 0 1 "" nsv5548211 1 28680034 28680034 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900293 M 3202 1 0 "" nsv5619236 1 28680034 28680034 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065093 M 35 1 0 "" HG00731 nsv5962305 1 28680034 28680034 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352144 M 914 1 0 "" nsv6054391 1 28680034 28680034 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529846 M 405 1 0 "" dgv158n152 1 28680034 28685766 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3180577,nsv3190072 M 9 0 0 "" HG00733,NA19240 nsv2802073 1 28680035 28680035 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689466 M 2 1 0 "" nsv3324242 1 28680035 28680035 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482427,nssv14482528,nssv14476622,nssv14488710,nssv14488742 M 14 5 0 "" CHM1,HG00268,NA12878,NA19240,NA19434 nsv4753671 1 28680036 28680036 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16280953 M 25 1 0 "" esv3400135 1 28680044 28680157 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740959 M 185 1 0 "" NA19240 nsv3324243 1 28681440 28681440 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481328 M 14 1 0 "" HG00733 nsv4046197 1 28681938 28682350 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849582 M 10847 0 1 "" nsv4049079 1 28682109 28685571 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849583 M 10847 0 1 "" nsv6551230 1 28683252 28683778 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252288 M 19652 0 0 "" nsv6330188 1 28684057 28685819 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059737 M 19652 0 1 "" nsv6321675 1 28684368 28691539 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059738 M 19652 0 1 "" nsv5430832 1 28686024 28688274 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900295 M 3202 1 0 "" nsv4052014 1 28686025 28688309 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965855 M 10847 1 0 "" nsv5873451 1 28686037 28688308 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17362689 M 914 1 0 "" nsv6324864 1 28686037 28688309 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203533 M 19652 1 0 "" nsv5829823 1 28686059 28688258 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17463509 M 914 0 0 "" nsv4049641 1 28686972 28704564 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849584 M 10847 0 1 PHACTR4 nsv5614198 1 28688020 28688020 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065094 M 35 1 0 "" HG03486 nsv5957469 1 28688020 28688020 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360016 M 914 1 0 "" nsv4536818 1 28688020 28688021 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032110 M 10847 1 0 "" nsv5720112 1 28688036 28688036 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17239184,nssv17250750 M 3202 2 0 "" nsv5557200 1 28688036 28688071 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900297 M 3202 1 0 "" nsv6538534 1 28688198 28688658 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252289 M 19652 0 0 "" nsv6536721 1 28688362 28688802 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252290 M 19652 0 0 "" nsv5829678 1 28688759 28690396 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466816,nssv17460119 M 914 0 0 "" nsv6333302 1 28690396 28758545 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203534 M 19652 1 0 PHACTR4 nsv6325141 1 28693210 28693772 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059739 M 19652 0 1 "" nsv4049328 1 28693333 28703158 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849585 M 10847 0 1 PHACTR4 nsv4535351 1 28701075 28701076 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032111 M 10847 1 0 PHACTR4 nsv5729171 1 28701090 28701090 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17251695,nssv17233570 M 3202 2 0 PHACTR4 nsv5555003 1 28701090 28701141 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683874 M 3202 1 0 PHACTR4 nsv6320037 1 28702048 28713219 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059929 M 19652 0 1 PHACTR4 nsv6539568 1 28702574 28702665 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252291 M 19652 0 0 PHACTR4 nsv6329300 1 28703091 28706818 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059930 M 19652 0 1 PHACTR4 esv3585579 1 28703555 28707818 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894736,essv9894729,essv9894731,essv9894730,essv9894733,essv9894732,essv9894734,essv9894735 M 2504 0 8 PHACTR4 HG02490,HG02733,HG03667,HG03750,HG03838,HG03884,HG04219,HG04222 nsv5569662 1 28703638 28707713 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065095 M 35 0 1 PHACTR4 HG02492 nsv5430231 1 28703648 28707664 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900299 M 3202 0 1 PHACTR4 nsv6548700 1 28703910 28704343 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252292 M 19652 0 0 PHACTR4 dgv47n166 1 28703929 28712300 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4042640,nsv4048181 M 10847 0 2 PHACTR4 esv3585580 1 28704373 28711255 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894737,essv9894739,essv9894738,essv9894740 M 2504 0 4 PHACTR4 HG02733,HG03750,HG03838,HG04222 nsv5431076 1 28704473 28711146 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900300 M 3202 0 1 PHACTR4 nsv481407 1 28704565 28704565 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015573 M 9 0 0 PHACTR4 nsv6317484 1 28706133 28709101 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059931 M 19652 0 1 PHACTR4 nsv7568 1 28707803 28738632 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2004 M 9 1 0 PHACTR4 NA18555 nsv479078 1 28709383 28709383 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015846 M 9 0 0 PHACTR4 nsv5415580 1 28709396 28714271 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900301 M 3202 0 1 PHACTR4 nsv5829944 1 28709405 28710404 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452563 M 914 0 0 PHACTR4 nsv3221622 1 28710754 28746892 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14267160,nssv14267161,nssv14267159 M 9 3 0 PHACTR4 HG00512,HG00731,NA19239 nsv6539900 1 28711931 28712303 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252293 M 19652 0 0 PHACTR4 nsv481368 1 28714552 28714552 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019879 M 9 0 0 PHACTR4 nsv6321129 1 28715011 28717361 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059932 M 19652 0 1 PHACTR4 nsv4040575 1 28715108 28716857 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849589 M 10847 0 1 PHACTR4 nsv481357 1 28715859 28715859 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013054 M 9 0 0 PHACTR4 nsv477974 1 28716798 28716798 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016415 M 9 1 0 PHACTR4 NA18517 nsv5983748 1 28717272 28717885 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17522194 M 405 1 0 PHACTR4 nsv3523358 1 28717651 28717651 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440542 M 9 1 0 PHACTR4 HG00733 nsv5540400 1 28717651 28717651 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900302 M 3202 1 0 PHACTR4 nsv5610712 1 28717651 28717651 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065096 M 35 1 0 PHACTR4 HG00731 nsv2802074 1 28717652 28717652 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691042 M 2 1 0 PHACTR4 nsv3324244 1 28717652 28717652 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14481333,nssv14477371,nssv14481614,nssv14484257,nssv14489275,nssv14476524 M 14 6 0 PHACTR4 CHM1,HG00268,HG00514,HG00733,HG02818,NA12878 nsv3056801 1 28717658 28717658 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14024384 M 2 1 0 PHACTR4 CHM1 nsv3056153 1 28717671 28717671 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14024971 M 2 1 0 PHACTR4 NA12878 nsv3524396 1 28717676 28717676 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377906 M 9 1 0 PHACTR4 NA19240 nsv6041168 1 28717679 28717679 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520751 M 405 1 0 PHACTR4 nsv3193319 1 28717707 28718129 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358283 M 9 0 1 PHACTR4 HG00512 nsv4750785 1 28717721 28717721 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288149 M 25 1 0 PHACTR4 nsv6539150 1 28717750 28718200 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252294 M 19652 0 0 PHACTR4 nsv480514 1 28718026 28718026 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013789 M 9 0 0 PHACTR4 nsv4052109 1 28721440 28737379 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849590 M 10847 0 1 PHACTR4 esv2763087 1 28721998 28735412 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7022632 M 1109 0 1 PHACTR4 SW_1209 nsv3521413 1 28722329 28722329 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373601,nssv14440543 M 9 2 0 PHACTR4 HG00733,NA19240 nsv5613088 1 28722329 28722329 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065097 M 35 1 0 PHACTR4 HG00731 nsv6048189 1 28722329 28722329 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525136 M 405 1 0 PHACTR4 nsv2802075 1 28722330 28722330 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680423 M 2 1 0 PHACTR4 nsv3323548 1 28722330 28722330 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14481493,nssv14483705,nssv14488197,nssv14485143,nssv14477526,nssv14472667,nssv14483412 M 14 7 0 PHACTR4 CHM1,HG00268,HG00514,HG00733,HG02818,NA12878,NA19434 nsv3520552 1 28722330 28722330 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413854 M 9 1 0 PHACTR4 HG00514 nsv3056154 1 28722331 28722331 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14018011 M 2 1 0 PHACTR4 NA12878 nsv4767910 1 28722339 28722339 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16268707 M 25 1 0 PHACTR4 nsv5948611 1 28722347 28722347 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17362546 M 914 1 0 PHACTR4 nsv480119 1 28723778 28723778 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013910 M 9 0 0 PHACTR4 nsv6538484 1 28724277 28725091 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252295 M 19652 0 0 PHACTR4 nsv478136 1 28724455 28724455 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018023 M 9 1 0 PHACTR4 NA18507 nsv479595 1 28724484 28724484 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012113 M 9 0 0 PHACTR4 nsv481172 1 28724650 28724650 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013348 M 9 0 0 PHACTR4 nsv475594 1 28724947 28724947 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015236 M 9 1 0 PHACTR4 NA12878 nsv4048759 1 28725095 28734799 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849591 M 10847 0 1 PHACTR4 nsv5983979 1 28725343 28734586 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521459 M 405 0 1 PHACTR4 nsv3113310 1 28726419 28733942 CNV deletion Lu_et_al_2017 28705883 Oligo aCGH nssv14095325 M 467 0 1 PHACTR4 sample325 nsv6328196 1 28726612 28735411 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059933 M 19652 0 1 PHACTR4 nsv5983980 1 28726651 28726734 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524032 M 405 0 1 PHACTR4 nsv6552350 1 28726664 28727153 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252296 M 19652 0 0 PHACTR4 nsv480904 1 28726979 28726979 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017412 M 9 0 0 PHACTR4 nsv6327874 1 28727151 28727837 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059934 M 19652 0 1 PHACTR4 nsv6316148 1 28727912 28732011 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059935 M 19652 0 1 PHACTR4 nsv473950 1 28729089 28729089 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014940 M 9 1 0 PHACTR4 NA12156 nsv475285 1 28729618 28729618 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015844 M 9 1 0 PHACTR4 NA19240 nsv474600 1 28730415 28730415 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016109 M 9 1 0 PHACTR4 NA18956 nsv479574 1 28730852 28730852 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015149 M 9 0 0 PHACTR4 nsv480960 1 28732600 28732600 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016694 M 9 0 0 PHACTR4 nsv479237 1 28733528 28733528 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013141 M 9 0 0 PHACTR4 nsv1110656 1 28736584 28736657 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3960311 M 2 1 0 PHACTR4 KWS1 esv3664601 1 28736599 28736599 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487344 M 20 1 0 PHACTR4 nsv3932698 1 28736599 28736599 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193122 M 1 1 0 PHACTR4 HG002 nsv4445062 1 28736599 28736599 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757617 M 1 1 0 PHACTR4 nsv5619350 1 28736599 28736599 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065098 M 35 1 0 PHACTR4 HG00732 nsv1142053 1 28736599 28736724 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3983633,nssv3962913 M 2 2 0 PHACTR4 KWS1,KWS2 nsv5415087 1 28736599 28736726 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900305 M 3202 1 0 PHACTR4 nsv4752064 1 28736601 28736601 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16284052 M 25 1 0 PHACTR4 nsv6051081 1 28736645 28736645 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522998 M 405 1 0 PHACTR4 nsv2801173 1 28736698 28736698 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678625 M 2 1 0 PHACTR4 nsv3323351 1 28736698 28736698 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14486573 M 14 1 0 PHACTR4 CHM13 nsv6329632 1 28737310 28737824 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059936 M 19652 0 1 PHACTR4 nsv4036276 1 28737447 28761049 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965856 M 10847 1 0 PHACTR4 nsv6322072 1 28737486 28761034 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203535 M 19652 1 0 PHACTR4 nsv480717 1 28738532 28738532 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016895 M 9 0 0 PHACTR4 nsv480258 1 28738787 28738787 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020021 M 9 0 0 PHACTR4 nsv4461340 1 28739780 28739781 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032112 M 10847 1 0 PHACTR4 nsv6541676 1 28740598 28741753 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252297 M 19652 0 0 PHACTR4 nsv481019 1 28742849 28742849 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019602 M 9 0 0 PHACTR4 nsv4571108 1 28742925 28742926 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032113 M 10847 1 0 PHACTR4 nsv6552242 1 28745211 28745647 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252298 M 19652 0 0 PHACTR4 esv3664611 1 28745540 28745540 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487353 M 20 1 0 PHACTR4 nsv3524457 1 28745540 28745540 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14389636,nssv14413855,nssv14440544 M 9 3 0 PHACTR4 HG00514,HG00733,NA19240 nsv5395967 1 28745540 28745540 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900307 M 3202 1 0 PHACTR4 nsv5614294 1 28745540 28745540 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065099 M 35 1 0 PHACTR4 HG00731 nsv5956969 1 28745540 28745540 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17362943 M 914 1 0 PHACTR4 nsv4461341 1 28745540 28745541 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032114 M 10847 1 0 PHACTR4 nsv2801909 1 28745541 28745541 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685633 M 2 1 0 PHACTR4 nsv3324245 1 28745541 28745541 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14490269,nssv14477795,nssv14486857,nssv14485171,nssv14476820 M 14 5 0 PHACTR4 CHM1,HG00268,HG00514,HG02818,NA12878 nsv3324246 1 28745542 28745542 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488624 M 14 1 0 PHACTR4 NA19434 nsv3065749 1 28745543 28745543 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14034606 M 2 1 0 PHACTR4 CHM1 nsv4758039 1 28745550 28745550 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16283978 M 25 1 0 PHACTR4 nsv6048013 1 28745553 28745553 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528577 M 405 1 0 PHACTR4 nsv3561960 1 28745559 28745559 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358342,nssv14358340,nssv14358339,nssv14358338,nssv14358341,nssv14358343 M 9 6 0 PHACTR4 HG00512,HG00514,HG00731,HG00733,NA19239,NA19240 nsv5682313 1 28745559 28745559 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17192536,nssv17205734 M 3202 2 0 PHACTR4 nsv6258617 1 28745559 28745559 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17844236 M 1021 1 0 PHACTR4 nsv3051702 1 28745560 28745560 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14027688 M 2 1 0 PHACTR4 NA12878 nsv6315890 1 28746112 28751111 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059937 M 19652 0 1 PHACTR4 nsv6323743 1 28747696 28748120 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059938 M 19652 0 1 PHACTR4 nsv6542918 1 28751782 28752410 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252299 M 19652 0 0 PHACTR4 nsv5422402 1 28754156 28754356 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900309 M 3202 1 0 PHACTR4 nsv6331009 1 28756670 28760031 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059939 M 19652 0 1 PHACTR4 nsv6316102 1 28757862 28760989 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203536 M 19652 1 0 PHACTR4 nsv6327337 1 28758484 28758855 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059940 M 19652 0 1 PHACTR4 nsv5417176 1 28758486 28758855 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900310 M 3202 0 1 PHACTR4 nsv6328643 1 28761993 28764325 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059941 M 19652 0 1 PHACTR4 nsv6044006 1 28765745 28765745 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17535585 M 405 1 0 PHACTR4 nsv4533580 1 28765745 28765746 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032115 M 10847 1 0 PHACTR4 nsv5722824 1 28765756 28765756 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17252331,nssv17235119 M 3202 2 0 PHACTR4 nsv5555394 1 28765756 28765798 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900311 M 3202 1 0 PHACTR4 nsv5983890 1 28766682 28766769 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522762 M 405 0 1 PHACTR4 nsv5983749 1 28766955 28767035 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534130 M 405 0 1 PHACTR4 nsv5829824 1 28767386 28768419 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17449728 M 914 0 0 PHACTR4 nsv6324231 1 28768001 28947199 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203537 M 19652 1 0 PHACTR4,RAB42,RCC1,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,TAF12,TRNAU1AP nsv6553038 1 28768416 28769148 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252300 M 19652 0 0 PHACTR4 nsv4041703 1 28768988 28769679 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849592 M 10847 0 1 PHACTR4 nsv5872876 1 28769303 28769493 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355701 M 914 0 1 PHACTR4 nsv5430852 1 28769304 28769494 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900312 M 3202 0 1 PHACTR4 nsv5829945 1 28769378 28770615 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450824 M 914 0 0 PHACTR4 nsv6241333 1 28769564 28769564 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17844241 M 1021 1 0 PHACTR4 nsv5684201 1 28769784 28769784 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17192283 M 3202 1 0 PHACTR4 nsv6540641 1 28773115 28773774 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252301 M 19652 0 0 PHACTR4 nsv6319418 1 28775155 28776224 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059942 M 19652 0 1 PHACTR4 nsv6320141 1 28775250 28781206 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059943 M 19652 0 1 PHACTR4 nsv4035319 1 28775278 28781270 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849593 M 10847 0 1 PHACTR4 nsv5623013 1 28775291 28775291 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065100 M 35 1 0 PHACTR4 HG03486 nsv5958566 1 28777485 28777485 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350328 M 914 1 0 PHACTR4 nsv5420811 1 28778204 28778281 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900314 M 3202 0 1 PHACTR4 nsv4051491 1 28781000 28787000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849594 M 10847 0 1 PHACTR4 nsv6333161 1 28781041 28781647 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059944 M 19652 0 1 PHACTR4 nsv6319572 1 28782329 29080032 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203538 M 19652 1 0 GMEB1,PHACTR4,RAB42,RCC1,RNU11,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,TAF12,TRNAU1AP,YTHDF2 nsv5607430 1 28784014 28784014 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065101 M 35 1 0 PHACTR4 HG03065 nsv5829679 1 28786142 28788717 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464594 M 914 0 0 PHACTR4 nsv6552229 1 28787112 28787670 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252302 M 19652 0 0 PHACTR4 nsv6324806 1 28787162 28788949 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059945 M 19652 0 1 PHACTR4 nsv5829971 1 28787292 28789217 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452938 M 914 0 0 PHACTR4 nsv5879223 1 28787375 28789096 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364935 M 914 0 1 PHACTR4 nsv1145329 1 28787702 28787767 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982428 M 2 0 1 PHACTR4 KWS1 nsv5947581 1 28788523 28788523 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17359707 M 914 1 0 PHACTR4 nsv4561795 1 28788523 28788524 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032116 M 10847 1 0 PHACTR4 nsv5729403 1 28788537 28788537 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17248450 M 3202 1 0 PHACTR4 nsv5563999 1 28788537 28788587 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900316 M 3202 1 0 PHACTR4 nsv4569233 1 28789717 28789718 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032117 M 10847 1 0 PHACTR4 nsv4051459 1 28791000 28799000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849596 M 10847 0 1 PHACTR4 nsv6555070 1 28791329 28791775 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252303 M 19652 0 0 PHACTR4 nsv5689017 1 28792100 28792100 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193157 M 3202 1 0 PHACTR4 nsv6331496 1 28793512 28798411 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059946 M 19652 0 1 PHACTR4 nsv6546626 1 28800762 28801230 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252304 M 19652 0 0 PHACTR4 nsv6331357 1 28804499 28805126 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059947 M 19652 0 1 PHACTR4 nsv6315763 1 28810192 28811359 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059948 M 19652 0 1 PHACTR4 nsv4518010 1 28810224 28811359 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849597 M 10847 0 1 PHACTR4 esv3585584 1 28811628 28826165 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894756 M 2504 1 0 PHACTR4 NA18528 nsv6138384 1 28811675 28823675 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900317 M 3202 1 0 PHACTR4 nsv4046267 1 28812000 28824000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965857 M 10847 1 0 PHACTR4 nsv5425701 1 28812314 28813332 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900318 M 3202 0 1 PHACTR4 nsv6318296 1 28812348 28813327 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059949 M 19652 0 1 PHACTR4 nsv6332278 1 28812938 28931283 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203539 M 19652 1 0 PHACTR4,RAB42,RCC1,SNHG12,SNHG3,SNORA16A,SNORA44,SNORA61,SNORD99,TAF12,TRNAU1AP nsv6548621 1 28813756 28814066 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252305 M 19652 0 0 PHACTR4 nsv481264 1 28814379 28814379 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013900 M 9 0 0 PHACTR4 nsv478587 1 28814493 28814493 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019869 M 9 1 0 PHACTR4 NA18507 nsv6334029 1 28814828 28841094 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203540 M 19652 1 0 PHACTR4,RCC1,SNHG3 nsv5872283 1 28816528 28816674 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17366908 M 914 1 0 PHACTR4 nsv475450 1 28816799 28816799 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015357 M 9 1 0 PHACTR4 NA19240 nsv5829972 1 28817236 28818575 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455461 M 914 0 0 PHACTR4 nsv480111 1 28820317 28820317 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019965 M 9 0 0 PHACTR4 nsv6542186 1 28822572 28824406 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252306 M 19652 0 0 PHACTR4 nsv6316780 1 28823696 28825481 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059950 M 19652 0 1 PHACTR4 esv3668321 1 28824129 28824215 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490693 M 20 0 0 PHACTR4 nsv4052077 1 28824599 28829619 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849598 M 10847 0 1 PHACTR4 nsv472443 1 28825747 28825747 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018397 M 9 1 0 PHACTR4 NA18555 nsv479444 1 28825970 28825970 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014002 M 9 0 0 PHACTR4 nsv480901 1 28825994 28825994 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016622 M 9 0 0 PHACTR4 nsv480236 1 28826263 28826263 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013744 M 9 0 0 PHACTR4 nsv5983981 1 28827102 28827210 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530632 M 405 0 1 "" nsv6138891 1 28827512 28835675 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900319 M 3202 1 0 RCC1,SNHG3 nsv4035965 1 28827562 28836018 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965858 M 10847 1 0 RCC1,SNHG3 nsv475240 1 28827607 28827607 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016840 M 9 1 0 "" NA19240 nsv545919 1 28827889 28837575 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712052 M 17421 0 1 RCC1,SNHG3 nsv477406 1 28828548 28828548 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3017414 M 9 1 0 "" NA18517 esv3674742 1 28831356 28831408 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496471 M 20 0 0 "" nsv5418124 1 28831449 28842691 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900322 M 3202 1 0 RCC1,SNHG3 nsv481388 1 28831893 28831893 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011552 M 9 0 0 "" nsv481614 1 28832338 28832338 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012216 M 9 0 0 "" nsv947421 1 28832463 28843860 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2761555 M 97 1 0 RCC1,SNHG3 HGDP00665 nsv479542 1 28832501 28832501 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013958 M 9 0 0 RCC1,SNHG3 nsv5431049 1 28833196 28833542 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900323 M 3202 0 1 RCC1,SNHG3 nsv6138210 1 28833734 28833883 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900324 M 3202 1 0 RCC1,SNHG3 esv3585585 1 28833906 28835179 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894774,essv9894781,essv9894783,essv9894762,essv9894782,essv9894785,essv9894763,essv9894784,essv9894757,essv9894777,essv9894764,essv9894779,essv9894758,essv9894778,essv9894766,essv9894780,essv9894759,essv9894767,essv9894760,essv9894773,essv9894765,essv9894772,essv9894761,essv9894771,essv9894775,essv9894770,essv9894776,essv9894768,essv9894769 M 2504 0 29 RCC1,SNHG3 HG00179,HG00186,HG00235,HG00244,HG00321,HG00330,HG00344,HG00349,HG00353,HG00364,HG00732,HG01055,HG01072,HG01086,HG01167,HG01509,HG01623,HG01976,HG02682,HG03238,HG03925,NA11829,NA12286,NA12340,NA12748,NA12872,NA20314,NA20754,NA20792 esv3559994 1 28833948 28835248 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758741 M 767 0 1 RCC1,SNHG3 nsv3207882 1 28833990 28835179 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359002 M 9 0 1 RCC1,SNHG3 HG00732 nsv5572417 1 28833990 28835180 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064678 M 35 0 1 RCC1,SNHG3 HG00732 esv2657760 1 28833990 28835181 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5724691,essv5837648,essv5507069,essv5752110,essv6598125,essv6388223,essv5961619,essv6131820,essv5630402,essv5400589,essv6254550,essv6501840,essv6313218,essv5915835,essv5409692 M 1151 0 15 RCC1,SNHG3 HG00179,HG00244,HG00321,HG00330,HG00344,HG00353,HG00732,HG01055,HG01072,HG01167,NA11829,NA12286,NA12340,NA12748,NA20792 nsv5886454 1 28834020 28835171 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360892 M 914 0 1 RCC1,SNHG3 nsv5829946 1 28834063 28835062 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464843,nssv17453201 M 914 0 0 RCC1,SNHG3 nsv6321284 1 28834077 28835155 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059951 M 19652 0 1 RCC1,SNHG3 nsv5423789 1 28834078 28835152 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900325 M 3202 0 1 RCC1,SNHG3 esv3585587 1 28835165 28841452 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894788,essv9894787,essv9894786 M 2504 3 0 RCC1,SNHG3 HG01028,HG02952,HG03556 nsv479597 1 28835367 28835367 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3010995 M 9 0 0 RCC1,SNHG3 nsv6327190 1 28835535 28837962 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203541 M 19652 1 0 RCC1,SNHG3 nsv4037882 1 28835554 28837986 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965859 M 10847 1 0 RCC1,SNHG3 nsv5871994 1 28835820 28836438 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351279 M 914 0 1 RCC1,SNHG3 nsv480107 1 28836024 28836024 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011450 M 9 0 0 RCC1,SNHG3 nsv5829973 1 28837213 28840462 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450825 M 914 0 0 RCC1,SNHG3 nsv4046300 1 28838191 28838946 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849599 M 10847 0 1 RCC1 nsv6551625 1 28839295 28840779 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252307 M 19652 0 0 RCC1 nsv6327792 1 28840379 28840950 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059952 M 19652 0 1 RCC1 nsv4050832 1 28840615 28840927 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849600 M 10847 0 1 RCC1 nsv5427833 1 28840615 28840927 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900326 M 3202 0 1 RCC1 nsv4032790 1 28840797 28842411 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965860 M 10847 1 0 RCC1 nsv5983982 1 28840861 28841170 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527934 M 405 0 1 RCC1 nsv5415476 1 28840965 28843426 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900327 M 3202 0 1 RCC1 nsv6334445 1 28841313 28842812 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203542 M 19652 1 0 RCC1 nsv5725964 1 28841487 28841487 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17239959 M 3202 1 0 RCC1 nsv5558743 1 28841487 28841538 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902526 M 3202 1 0 RCC1 nsv5879398 1 28841695 28842587 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357542 M 914 0 1 RCC1 nsv6137968 1 28842056 28842388 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902527 M 3202 0 1 RCC1 nsv6321108 1 28842056 28842388 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059953 M 19652 0 1 RCC1 nsv4516959 1 28842075 28842406 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849601 M 10847 0 1 RCC1 nsv5425464 1 28842588 28842917 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902530 M 3202 0 1 RCC1 nsv5422790 1 28842887 28843559 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902531 M 3202 1 0 RCC1 nsv6333641 1 28846351 28849755 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059954 M 19652 0 1 RCC1 nsv5416700 1 28849724 28851957 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902532 M 3202 0 1 RCC1 nsv5885416 1 28849831 28851956 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355054 M 914 0 1 RCC1 nsv6325525 1 28849832 28851957 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059955 M 19652 0 1 RCC1 nsv4034292 1 28849833 28851957 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849603 M 10847 0 1 RCC1 nsv5829947 1 28849892 28851541 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459997 M 914 0 0 RCC1 nsv945856 1 28852379 28853650 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758651,nssv1758708,nssv1758642,nssv1758689,nssv1758643,nssv1758699,nssv1758650,nssv1758730,nssv1758644,nssv1758705,nssv1758726,nssv1758692,nssv1758672,nssv1758700,nssv1758670,nssv1758696,nssv1758662,nssv1758697,nssv1758648,nssv1758679,nssv1758665,nssv1758690,nssv1758661,nssv1758735,nssv1758673,nssv1758710,nssv1758653,nssv1758734,nssv1758667,nssv1758688,nssv1758647,nssv1758716,nssv1758723,nssv1758703,nssv1758720,nssv1758693,nssv1758658,nssv1758694,nssv1758654,nssv1758704,nssv1758659,nssv1758701,nssv1758645,nssv1758680,nssv1758655,nssv1758713,nssv1758727,nssv1758682,nssv1758671,nssv1758717,nssv1758660,nssv1758683,nssv1758724,nssv1758702,nssv1758652,nssv1758698,nssv1758722,nssv1758712,nssv1758664,nssv1758731,nssv1758649,nssv1758686,nssv1758676,nssv1758728,nssv1758675,nssv1758687,nssv1758721,nssv1758684,nssv1758656,nssv1758737,nssv1758677,nssv1758715,nssv1758678,nssv1758736,nssv1758666,nssv1758729,nssv1758641,nssv1758691,nssv1758668,nssv1758707,nssv1758725,nssv1758711,nssv1758674,nssv1758733,nssv1758718,nssv1758706,nssv1758719,nssv1758685,nssv1758657,nssv1758709,nssv1758669,nssv1758695,nssv1758646,nssv1758732,nssv1758663,nssv1758714,nssv1758681 M 97 10 0 RCC1 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6545708 1 28854604 28855361 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252308 M 19652 0 0 RCC1 nsv1137744 1 28859852 28859915 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990252 M 2 0 1 RCC1 KWS2 nsv3205761 1 28860283 28860407 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359049,nssv14359050,nssv14359048 M 9 3 0 RCC1 HG00731,HG00732,HG00733 nsv6320294 1 28860923 28882663 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203543 M 19652 1 0 RCC1,TRNAU1AP nsv5685338 1 28865637 28865637 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17192602 M 3202 1 0 RCC1 nsv6536850 1 28866665 28867079 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252309 M 19652 0 0 "" nsv6316355 1 28867762 28869116 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059956 M 19652 0 1 "" nsv6329874 1 28869303 28871701 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059957 M 19652 0 1 "" nsv5983751 1 28869462 28870555 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527088 M 405 0 1 "" nsv4047926 1 28870409 28877079 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15965861 M 10847 1 0 "" nsv5432511 1 28870540 28912313 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902534 M 3202 1 0 SNHG12,SNORA16A,SNORA44,SNORA61,SNORD99,TRNAU1AP esv3683144 1 28870715 28870893 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467906 M 20 0 1 "" nsv5419369 1 28871149 28874514 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902535 M 3202 0 1 "" nsv6316261 1 28872166 28874287 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059958 M 19652 0 1 "" nsv6328433 1 28874204 28875739 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059959 M 19652 0 1 "" esv3683148 1 28877029 28877266 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467910 M 20 0 1 "" nsv5983893 1 28877128 28877205 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526408 M 405 0 1 "" nsv5416917 1 28877168 28877341 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902536 M 3202 0 1 "" nsv5687787 1 28877222 28877222 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193214,nssv17205735 M 3202 2 0 "" nsv3214152 1 28878677 28879145 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271102 M 9 1 0 "" HG00512 nsv478111 1 28879976 28879976 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013593 M 9 1 0 TRNAU1AP NA18507 nsv6320650 1 28881313 28884012 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059960 M 19652 0 1 TRNAU1AP nsv5983752 1 28889296 28889364 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533503 M 405 0 1 TRNAU1AP nsv3521656 1 28898298 28898298 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413856 M 9 1 0 TRNAU1AP HG00514 nsv5608707 1 28898298 28898298 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064687 M 35 1 0 TRNAU1AP HG00731 nsv5951664 1 28898298 28898298 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17350151 M 914 1 0 TRNAU1AP nsv6044571 1 28898298 28898298 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521685 M 405 1 0 TRNAU1AP nsv4533837 1 28898298 28898299 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032118 M 10847 1 0 TRNAU1AP nsv2801814 1 28898299 28898299 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681532 M 2 1 0 TRNAU1AP nsv3323355 1 28898299 28898299 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14475438,nssv14490063,nssv14473673 M 14 3 0 TRNAU1AP CHM1,HG00514,HG02818 nsv4754906 1 28898300 28898300 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16292863 M 25 1 0 TRNAU1AP nsv6322009 1 28898310 28926102 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059961 M 19652 0 1 RAB42,SNHG12,SNORA16A,SNORA44,SNORA61,SNORD99,TRNAU1AP nsv5543498 1 28898311 28898349 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16902537 M 3202 1 0 TRNAU1AP nsv4036673 1 28898311 28926032 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849604 M 10847 0 1 RAB42,SNHG12,SNORA16A,SNORA44,SNORA61,SNORD99,TRNAU1AP nsv3065750 1 28898312 28898312 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033719 M 2 1 0 TRNAU1AP CHM1 nsv4034579 1 28898444 28898573 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849605 M 10847 0 1 TRNAU1AP nsv6546521 1 28899447 28899573 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252310 M 19652 0 0 TRNAU1AP nsv6315589 1 28899756 28901815 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059962 M 19652 0 1 TRNAU1AP dgv34e199 1 28900625 28902609 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2666765,esv2676168 M 1151 0 1 TRNAU1AP HG00701 nsv5417475 1 28900631 28902402 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903484 M 3202 0 1 TRNAU1AP esv3585588 1 28900681 28902459 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894789 M 2504 0 1 TRNAU1AP HG00701 esv3664644 1 28902668 28902668 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487383 M 20 1 0 TRNAU1AP nsv6321067 1 28904535 28906625 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059963 M 19652 0 1 SNHG12,SNORA61,SNORD99,TRNAU1AP nsv5430107 1 28904799 28905457 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903485 M 3202 0 1 SNHG12,SNORD99,TRNAU1AP nsv4042760 1 28904859 28905014 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849606 M 10847 0 1 TRNAU1AP nsv5433866 1 28905193 28906043 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903486 M 3202 0 1 SNHG12,SNORD99 nsv4036152 1 28905534 28906414 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849607 M 10847 0 1 SNHG12,SNORA61 nsv5876686 1 28906067 28906413 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358743 M 914 0 1 SNHG12,SNORA61 esv2671121 1 28906067 28906414 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6334657,essv6295781,essv6006760,essv6383136,essv6479047 M 1151 0 5 SNHG12,SNORA61 NA18861,NA19391,NA19394,NA19704,NA19917 nsv5420108 1 28906070 28906414 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903487 M 3202 0 1 SNHG12,SNORA61 nsv4048089 1 28906070 28906504 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849608 M 10847 0 1 SNHG12,SNORA61 nsv4037686 1 28908484 28908606 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849609 M 10847 0 1 "" nsv6329724 1 28909359 28913016 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203544 M 19652 1 0 "" nsv5421230 1 28909422 28912954 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903488 M 3202 0 1 "" nsv4039995 1 28910731 28913925 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849610 M 10847 0 1 "" nsv4034010 1 28911219 28912334 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849611 M 10847 0 1 "" nsv5423470 1 28911219 28912334 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903489 M 3202 0 1 "" nsv6326296 1 28911219 28912334 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059964 M 19652 0 1 "" nsv1122317 1 28911549 28911627 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990253,nssv3985277 M 2 0 2 "" KWS1,KWS2 nsv5983984 1 28912343 28912485 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529735 M 405 0 1 "" esv2745819 1 28912360 28912588 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6703875,essv6824994 M 96 0 2 "" SSM040,SSM080 nsv6049557 1 28912432 28912432 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524672 M 405 1 0 "" nsv1145330 1 28917795 28917866 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982429 M 2 0 1 "" KWS1 nsv6316818 1 28924064 28925128 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059966 M 19652 0 1 "" nsv5419288 1 28924125 28924871 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900447 M 3202 0 1 "" nsv6549767 1 28932282 28934588 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252311 M 19652 0 0 TAF12 nsv506924 1 28934592 28940592 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619229 M 4 0 0 TAF12 NA10860 nsv6332768 1 28934678 28938122 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059967 M 19652 0 1 TAF12 nsv6545617 1 28934881 28935829 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252312 M 19652 0 0 TAF12 nsv5983896 1 28935648 28935726 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533621 M 405 0 1 TAF12 nsv5423784 1 28936318 28936965 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900448 M 3202 0 1 TAF12 nsv4049988 1 28937564 28939609 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849613 M 10847 0 1 TAF12 nsv819244 1 28938187 28947611 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1418577 M 2 0 1 TAF12 AK1 nsv5879655 1 28940870 28940989 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360433 M 914 0 1 TAF12 nsv6555190 1 28943141 28944206 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252313 M 19652 0 0 TAF12 esv3668420 1 28944000 28944057 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16490782 M 20 0 0 TAF12 nsv6540993 1 28945974 28946833 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252314 M 19652 0 0 TAF12 esv3664654 1 28946181 28946181 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487392 M 20 1 0 TAF12 nsv5882013 1 28946896 28947195 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355615 M 914 0 1 TAF12 esv3585589 1 28949642 28960146 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894790,essv9894791 M 2504 0 2 TAF12 HG02082,NA18537 nsv4033419 1 28949791 28960015 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849614 M 10847 0 1 TAF12 nsv5430933 1 28949835 28960015 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900450 M 3202 0 1 TAF12 nsv822209 1 28949968 28955683 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1439451 M 31 0 1 TAF12 NA18537 nsv476520 1 28951772 28951772 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011193 M 9 1 0 TAF12 NA12878 nsv4047346 1 28952477 28957185 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849615 M 10847 0 1 TAF12 nsv5875071 1 28952817 28956794 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351497 M 914 0 1 TAF12 nsv5829974 1 28952909 28956557 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465232 M 914 0 0 TAF12 nsv475854 1 28955049 28955049 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016737 M 9 1 0 TAF12 NA12878 nsv4044024 1 28955495 28955570 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849616 M 10847 0 1 TAF12 nsv5829680 1 28955758 28956957 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453355 M 914 0 0 TAF12 esv2660216 1 28957474 28960912 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5876413,essv5940228,essv6570317 M 1151 0 3 TAF12 NA20334,NA20336,NA20795 nsv6335192 1 28957499 28960862 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059968 M 19652 0 1 TAF12 nsv4041325 1 28957500 28960843 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849617 M 10847 0 1 TAF12 nsv5429413 1 28957500 28960843 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900452 M 3202 0 1 TAF12 esv2665007 1 28959492 28961682 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5645809 M 1151 0 1 TAF12 HG00513 nsv5579435 1 28959740 28961878 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064943 M 35 0 1 TAF12 HG00513 nsv3174304 1 28959741 28961880 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14419454 M 9 0 1 TAF12 HG00514 nsv3323555 1 28959742 28961880 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14475871 M 14 0 1 TAF12 HG00514 nsv3193223 1 28959746 28961880 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359082,nssv14359081 M 9 0 2 TAF12 HG00513,HG00514 nsv5427046 1 28959756 28961879 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900453 M 3202 0 1 TAF12 nsv6547090 1 28959783 28960658 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252315 M 19652 0 0 TAF12 nsv4035044 1 28959940 28960012 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849618 M 10847 0 1 TAF12 nsv5424171 1 28959940 28960012 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900454 M 3202 0 1 TAF12 nsv6321138 1 28960217 28968947 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203546 M 19652 1 0 TAF12 nsv3323556 1 28960222 28960272 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14475833 M 14 0 1 TAF12 HG00514 nsv4036016 1 28960223 28968947 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963851 M 10847 1 0 TAF12 nsv5983753 1 28960337 28965301 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534601 M 405 0 1 TAF12 nsv6319363 1 28960380 28961397 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203547 M 19652 1 0 TAF12 nsv3526300 1 28965616 28965889 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359115,nssv14359116,nssv14359114,nssv14359117 M 9 0 4 TAF12 HG00513,HG00731,HG00732,NA19238 nsv5829681 1 28965905 28967204 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466626 M 914 0 0 TAF12 nsv5983897 1 28967434 28967588 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531715 M 405 0 1 TAF12 nsv6335106 1 28970573 28974321 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059969 M 19652 0 1 "" nsv6544793 1 28971562 28972148 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252316 M 19652 0 0 "" nsv6318371 1 28974156 28976834 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059970 M 19652 0 1 RNU11 nsv545920 1 28975150 29004746 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712053 M 17421 0 1 GMEB1,RNU11 nsv4040235 1 28976844 28977861 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849619 M 10847 0 1 "" nsv3323557 1 28977773 28977840 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14479429 M 14 0 1 "" NA19434 nsv4461866 1 28979041 28979042 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032119 M 10847 1 0 "" nsv5609940 1 28979124 28979124 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064945 M 35 1 0 "" HG00731 nsv5553506 1 28980604 28980638 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900457 M 3202 1 0 "" nsv5829825 1 28987038 28988237 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17452767 M 914 0 0 "" nsv6333998 1 28989978 28992497 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203548 M 19652 1 0 "" esv3664661 1 28990060 28990060 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487399 M 20 1 0 "" nsv6325214 1 28992161 28993430 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203549 M 19652 1 0 "" nsv6552025 1 28994024 28994534 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252317 M 19652 0 0 "" nsv1113095 1 28994406 28994479 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967989 M 2 0 1 "" KWS2 nsv4460808 1 28994923 28994924 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032120 M 10847 1 0 "" nsv6318187 1 28997259 28999942 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059971 M 19652 0 1 GMEB1 nsv6552358 1 28998351 28999034 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252318 M 19652 0 0 GMEB1 nsv1113096 1 29000563 29000641 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967990 M 2 0 1 GMEB1 KWS2 nsv4042169 1 29004000 29009000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849620 M 10847 0 1 GMEB1 nsv6550405 1 29004518 29005924 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252319 M 19652 0 0 GMEB1 nsv5424152 1 29008458 29009913 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900458 M 3202 0 1 GMEB1 nsv6335263 1 29008480 29009908 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059972 M 19652 0 1 GMEB1 esv27154 1 29008566 29009882 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17553 M 40 0 1 GMEB1 NA12489 nsv4569436 1 29009714 29009715 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032121 M 10847 1 0 GMEB1 nsv6330610 1 29012860 29015737 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059973 M 19652 0 1 GMEB1 nsv5685855 1 29016736 29016736 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193041 M 3202 1 0 GMEB1 nsv6241344 1 29016736 29016736 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17844252 M 1021 1 0 GMEB1 nsv5886856 1 29022163 29022485 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353658 M 914 0 1 GMEB1 nsv5416840 1 29022168 29022486 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900460 M 3202 0 1 GMEB1 nsv4039118 1 29022168 29022745 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849621 M 10847 0 1 GMEB1 nsv4730282 1 29024723 29025027 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16277620 M 25 0 1 GMEB1 nsv6545372 1 29025305 29026099 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252320 M 19652 0 0 GMEB1 nsv4557544 1 29025926 29025927 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032122 M 10847 1 0 GMEB1 dgv48n166 1 29032760 29033360 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nsv4558477,nsv4568537 M 10847 0 0 GMEB1 nsv5970900 1 29032845 29033466 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17361820 M 914 0 0 GMEB1 nsv4051871 1 29033000 29047000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963852 M 10847 1 0 GMEB1 nsv6540943 1 29033062 29033235 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252321 M 19652 0 0 GMEB1 nsv6323196 1 29033613 29034812 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059975 M 19652 0 1 GMEB1 nsv5679336 1 29034185 29034185 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193080 M 3202 1 0 GMEB1 nsv5398975 1 29034185 29034236 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900462 M 3202 1 0 GMEB1 nsv477940 1 29045828 29045828 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016658 M 9 1 0 "" NA18517 nsv6554402 1 29048726 29049529 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252322 M 19652 0 0 "" nsv6548639 1 29049450 29050742 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252323 M 19652 0 0 "" nsv6545363 1 29050100 29050782 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252324 M 19652 0 0 "" nsv6138515 1 29051007 29056987 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900464 M 3202 1 0 "" nsv6540510 1 29052235 29052699 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252325 M 19652 0 0 "" nsv1122318 1 29052700 29052762 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970525 M 2 0 1 "" KWS2 nsv509080 1 29053051 29081927 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621089 M 4 1 0 YTHDF2 NA15510 nsv1126987 1 29053095 29053153 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985278 M 2 0 1 "" KWS1 nsv4735865 1 29055231 29055298 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278153 M 25 0 1 "" nsv6323468 1 29056937 29059494 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059977 M 19652 0 1 "" nsv6316602 1 29058313 29058998 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203550 M 19652 1 0 "" nsv5829826 1 29065215 29066314 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459685 M 914 0 0 YTHDF2 nsv945857 1 29069140 29070362 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758739,nssv1756728,nssv1758748,nssv1756720,nssv1758740,nssv1756768,nssv1758747,nssv1756730,nssv1758741,nssv1756731,nssv1756765,nssv1756740,nssv1758754,nssv1756748,nssv1756762,nssv1756745,nssv1758738,nssv1756773,nssv1758745,nssv1756744,nssv1758760,nssv1756738,nssv1758749,nssv1756729,nssv1758744,nssv1756747,nssv1758773,nssv1756734,nssv1758770,nssv1756776,nssv1758758,nssv1756732,nssv1758762,nssv1756772,nssv1758767,nssv1756774,nssv1756716,nssv1756752,nssv1758750,nssv1756749,nssv1756759,nssv1756722,nssv1756757,nssv1756755,nssv1758751,nssv1756770,nssv1758763,nssv1756727,nssv1758772,nssv1756726,nssv1758769,nssv1756739,nssv1758753,nssv1756756,nssv1756760,nssv1756741,nssv1758746,nssv1756743,nssv1758743,nssv1756751,nssv1758742,nssv1756735,nssv1756717,nssv1756771,nssv1758757,nssv1756753,nssv1756763,nssv1756775,nssv1758771,nssv1756733,nssv1758765,nssv1756718,nssv1758756,nssv1756723,nssv1758768,nssv1756724,nssv1758761,nssv1756769,nssv1756766,nssv1756754,nssv1758759,nssv1756767,nssv1758764,nssv1756750,nssv1758752,nssv1756742,nssv1756758,nssv1756737,nssv1758766,nssv1756719,nssv1756764,nssv1756725,nssv1756761,nssv1756736,nssv1758755,nssv1756746,nssv1756721 M 97 10 0 YTHDF2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6553490 1 29074344 29075925 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252326 M 19652 0 0 YTHDF2 nsv5829827 1 29075822 29079071 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466244 M 914 0 0 YTHDF2 nsv4461867 1 29076184 29076185 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032123 M 10847 1 0 YTHDF2 nsv160265 1 29077612 29079870 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178843 M 24 YTHDF2 esv3585591 1 29078986 29080400 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894793 M 2504 0 1 YTHDF2 HG03105 nsv5433141 1 29079094 29080454 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900465 M 3202 0 1 YTHDF2 nsv6553282 1 29080338 29080776 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252327 M 19652 0 0 YTHDF2 nsv4045924 1 29081938 29089915 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849622 M 10847 0 1 YTHDF2 nsv473498 1 29084366 29084366 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020238 M 9 1 0 YTHDF2 NA19129 nsv4738522 1 29085263 29091172 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289883 M 25 0 1 YTHDF2 nsv6542250 1 29086904 29088210 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252328 M 19652 0 0 YTHDF2 nsv5428962 1 29086965 29089537 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900466 M 3202 1 0 YTHDF2 nsv5559232 1 29087121 29087817 OTHER inversion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900468 M 3202 0 0 YTHDF2 nsv4315216 1 29087121 29088061 OTHER inversion gnomAD_Structural_Variants 32461652 Sequencing nssv16091254 M 10847 0 0 YTHDF2 nsv5560510 1 29087121 29088162 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900467 M 3202 0 0 YTHDF2 nsv6320804 1 29088211 29094601 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059978 M 19652 0 1 YTHDF2 esv2745830 1 29091064 29091225 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6832613 M 96 0 1 YTHDF2 SSM082 nsv4051463 1 29093582 29094244 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849623 M 10847 0 1 YTHDF2 nsv4050658 1 29097687 29105464 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963853 M 10847 1 0 "" nsv4050930 1 29098489 29098568 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849624 M 10847 0 1 "" nsv6319427 1 29100701 29105494 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059979 M 19652 0 1 "" nsv5829975 1 29101977 29102976 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461570 M 914 0 0 "" nsv5983754 1 29102627 29102732 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528199 M 405 0 1 "" nsv4746894 1 29102629 29102720 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279542 M 25 0 1 "" nsv4536846 1 29102982 29102983 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032124 M 10847 1 0 "" nsv6335052 1 29103324 29104223 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203551 M 19652 1 0 "" nsv5417669 1 29103337 29104252 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900469 M 3202 1 0 "" esv3585592 1 29105358 29109414 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894796,essv9894794,essv9894797,essv9894795 M 2504 0 4 "" HG03114,HG03279,HG03499,HG03521 nsv5433632 1 29105385 29109318 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900470 M 3202 0 1 "" nsv5829976 1 29105385 29109499 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451073 M 914 0 0 "" nsv6333550 1 29105468 29109362 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059980 M 19652 0 1 "" dgv3n21 1 29107895 29145188 CNV loss Shaikh_et_al_2009 19592680 SNP array nsv525553,nsv517547 M 2026 0 3 OPRD1 nsv460928 1 29107895 29166138 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537404 M 1557 0 1 OPRD1 1782681216_A nsv545921 1 29107895 29166138 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173805 M 17421 0 1 OPRD1 1782681216_A nsv519203 1 29107895 29175373 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv696691 M 2026 1 0 OPRD1 nsv4461868 1 29108050 29108051 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032126 M 10847 1 0 "" nsv6334709 1 29108992 29110736 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059981 M 19652 0 1 "" nsv4041793 1 29109209 29110652 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849625 M 10847 0 1 "" nsv4749037 1 29109289 29109461 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16260338 M 25 0 1 "" nsv5983755 1 29109364 29109477 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525220 M 405 0 1 "" nsv5983985 1 29109662 29109764 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527068 M 405 0 1 "" esv3585593 1 29110416 29113757 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894798 M 2504 0 1 "" NA19152 nsv4567213 1 29112565 29112566 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032127 M 10847 1 0 "" nsv5983898 1 29114367 29114428 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521496 M 405 0 1 "" nsv1119672 1 29114836 29114902 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982119 M 2 0 1 "" KWS1 esv3577796 1 29122214 29134668 CNV loss Uddin_et_al_2014 25503493 SNP array essv9833866 M 873 0 1 "" 400558BL nsv5829977 1 29128952 29130151 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466303 M 914 0 0 "" nsv4047960 1 29129560 29134424 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849626 M 10847 0 1 "" nsv6321669 1 29129560 29134424 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059982 M 19652 0 1 "" nsv6241355 1 29132250 29132250 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17845215 M 1021 1 0 "" nsv6549839 1 29135092 29135578 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252329 M 19652 0 0 "" esv3585594 1 29135491 29140334 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894799 M 2504 0 1 OPRD1 NA19200 nsv5429805 1 29135510 29140307 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900472 M 3202 0 1 OPRD1 nsv6332548 1 29135510 29140307 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059983 M 19652 0 1 OPRD1 nsv1076315 1 29138299 29139000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3762733 M 1 0 1 OPRD1 KWP1 nsv525310 1 29138975 29145188 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv701417 M 2026 0 1 OPRD1 nsv4050563 1 29141056 29145832 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849627 M 10847 0 1 OPRD1 esv2745841 1 29147691 29147956 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6753510 M 96 0 1 OPRD1 SSM058 nsv4042797 1 29150204 29158293 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849629 M 10847 0 1 OPRD1 nsv6320474 1 29151594 29184809 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059984 M 19652 0 1 OPRD1 nsv4044589 1 29154485 29158225 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849630 M 10847 0 1 OPRD1 nsv6333784 1 29154485 29158225 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059985 M 19652 0 1 OPRD1 nsv6324503 1 29161544 29161953 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059986 M 19652 0 1 OPRD1 nsv4038876 1 29172000 29178000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849631 M 10847 0 1 OPRD1 nsv5829978 1 29172746 29174784 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464437 M 914 0 0 OPRD1 nsv1119673 1 29173336 29173407 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982120 M 2 0 1 OPRD1 KWS1 nsv6328252 1 29176413 29184012 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059987 M 19652 0 1 OPRD1 nsv4051872 1 29176422 29184042 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849632 M 10847 0 1 OPRD1 nsv5875557 1 29178112 29178407 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366561 M 914 0 1 OPRD1 nsv6553520 1 29178423 29179485 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252330 M 19652 0 0 OPRD1 nsv6536028 1 29178681 29179208 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252331 M 19652 0 0 OPRD1 nsv6330176 1 29180413 29181325 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059988 M 19652 0 1 OPRD1 nsv5420953 1 29181239 29181298 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900473 M 3202 1 0 OPRD1 nsv4042391 1 29181416 29181479 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963854 M 10847 1 0 OPRD1 nsv4517957 1 29188172 29188249 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849633 M 10847 0 1 OPRD1 nsv5879779 1 29201489 29205934 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360096 M 914 0 1 "" esv3664669 1 29201628 29201628 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487405 M 20 1 0 "" nsv1121709 1 29205352 29235370 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968358 M 2 0 1 EPB41 KWS2 dgv159n152 1 29206820 29207189 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3196943,nsv3196831 M 9 0 6 "" HG00512,HG00514,HG00731,HG00733,NA19238,NA19240 nsv1122320 1 29207311 29207375 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970528 M 2 0 1 "" KWS2 esv3664679 1 29207417 29207417 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487414 M 20 1 0 "" nsv4461109 1 29224268 29224269 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032128 M 10847 1 0 EPB41 nsv4461110 1 29224280 29224281 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032129 M 10847 1 0 EPB41 nsv5983899 1 29226974 29227618 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520251 M 405 0 1 EPB41 nsv4047576 1 29226988 29227609 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849634 M 10847 0 1 EPB41 nsv4433110 1 29226989 29227609 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15751118 M 15 0 1 EPB41 BTQ016 nsv5416046 1 29226998 29227609 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900475 M 3202 0 1 EPB41 esv2672867 1 29227581 29227903 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6129564,essv6277831,essv5531363,essv5992880,essv6047438,essv6060390,essv5961717,essv6269717,essv5503366,essv5413675,essv6191546,essv6418293,essv5435499,essv5817506,essv6146383,essv5584720,essv5950842,essv6286029,essv6238343,essv5762975,essv5441281,essv6187150,essv6014491,essv5618748,essv5686508,essv6234105,essv6045680,essv6189990,essv6049761,essv5975363,essv5712179,essv6511944,essv6242722,essv5631079,essv5552749,essv5764386,essv6409465,essv5474064,essv5606181,essv6006292,essv5922160,essv5671612,essv6005302,essv6192948,essv6478113,essv5672666,essv6394874,essv5886548,essv5938813,essv6205028,essv6242358,essv5522869,essv5806516,essv6479288,essv5804329,essv6082205,essv5531163,essv5769253,essv6180839,essv6245436,essv6556286,essv5498562,essv5706623,essv6475220,essv6100058,essv5718745,essv6371757,essv6115245,essv5478397,essv5445145,essv5606895,essv5973830,essv5657689,essv6212039,essv6242058,essv6237082,essv6556148,essv5808973,essv6139128,essv5464878,essv6030678,essv5575812,essv6202845,essv6111797,essv5830510,essv5565404,essv5415766,essv5792199,essv6419718,essv6220207,essv5877077,essv5533653,essv6051765,essv6424967,essv5434848,essv6386247,essv5930904,essv5494808,essv6021947,essv6240431,essv5695657,essv5664325,essv6293536,essv5772342,essv6363802,essv5984519,essv5886200,essv6062309,essv6507222,essv6540514,essv5860896,essv6554226,essv6403531 M 1151 0 113 EPB41 HG00096,HG00111,HG00154,HG00157,HG00176,HG00179,HG00265,HG00274,HG00277,HG00318,HG00321,HG00328,HG00337,HG00338,HG00346,HG00418,HG00419,HG00427,HG00428,HG00448,HG00472,HG00478,HG00500,HG00513,HG00533,HG00534,HG00537,HG00543,HG00565,HG00566,HG00581,HG00589,HG00607,HG00608,HG00619,HG00620,HG00638,HG00650,HG00651,HG00654,HG00662,HG00663,HG00672,HG00683,HG00689,HG00690,HG00693,HG00698,HG00699,HG00704,HG00705,HG00707,HG00708,HG00732,HG00734,HG00739,HG01069,HG01073,HG01080,HG01082,HG01113,HG01124,HG01171,HG01183,HG01187,HG01188,HG01197,HG01254,HG01342,HG01374,HG01378,HG01551,NA07056,NA18530,NA18542,NA18543,NA18546,NA18549,NA18557,NA18559,NA18562,NA18566,NA18571,NA18577,NA18597,NA18617,NA18618,NA18620,NA18622,NA18623,NA18624,NA18628,NA18633,NA18950,NA18956,NA18963,NA18977,NA18985,NA19082,NA19087,NA19130,NA19355,NA19379,NA19385,NA19404,NA19670,NA19719,NA19770,NA20126,NA20314,NA20506,NA20801,NA20819 nsv3175030 1 29227706 29227867 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14444802 M 9 0 1 EPB41 HG00733 nsv5583711 1 29227713 29227873 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064948 M 35 0 1 EPB41 HG00732 nsv5886949 1 29227713 29227873 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353299 M 914 0 1 EPB41 nsv3525090 1 29227713 29227874 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359178,nssv14359176,nssv14359177,nssv14359179 M 9 0 4 EPB41 HG00512,HG00513,HG00732,HG00733 nsv5983900 1 29227713 29227874 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527910 M 405 0 1 EPB41 esv3560049 1 29227713 29227879 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758796 M 767 0 1 EPB41 nsv3324255 1 29227715 29227874 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14485021 M 14 0 1 EPB41 HG00733 nsv4745232 1 29227718 29227879 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16278489 M 25 0 1 EPB41 nsv3063183 1 29227721 29227879 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14037666 M 2 0 1 EPB41 NA12878 nsv6138489 1 29227729 29228161 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900476 M 3202 0 1 EPB41 nsv4516518 1 29227729 29228170 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849635 M 10847 0 1 EPB41 nsv3525329 1 29234766 29235072 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359205,nssv14359204,nssv14359202,nssv14359209,nssv14359208,nssv14359206,nssv14359203,nssv14359207,nssv14359832 M 9 0 9 EPB41 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv6544662 1 29234828 29235240 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252332 M 19652 0 0 EPB41 nsv6543001 1 29238364 29239316 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252333 M 19652 0 0 EPB41 nsv5425905 1 29238754 29246217 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900477 M 3202 0 1 EPB41 nsv6335324 1 29240413 29242212 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203552 M 19652 1 0 EPB41 nsv6321321 1 29240648 29243846 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059989 M 19652 0 1 EPB41 nsv5829828 1 29241051 29242558 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455978 M 914 0 0 EPB41 nsv6547134 1 29250804 29251590 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252334 M 19652 0 0 EPB41 nsv5829979 1 29252463 29254514 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462427 M 914 0 0 EPB41 nsv5878876 1 29252514 29254455 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353953 M 914 0 1 EPB41 nsv5725025 1 29252560 29252560 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236954 M 3202 1 0 EPB41 nsv5561328 1 29252581 29252611 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900479 M 3202 1 0 EPB41 nsv4042009 1 29256329 29256932 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849636 M 10847 0 1 EPB41 nsv5676138 1 29256379 29256379 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193948,nssv17205736 M 3202 2 0 EPB41 nsv6050923 1 29261965 29261965 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524680 M 405 1 0 EPB41 nsv4461111 1 29263364 29263365 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032130 M 10847 1 0 EPB41 esv2673135 1 29263935 29265121 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5662887 M 1151 0 1 EPB41 NA18552 esv3585595 1 29263976 29265138 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894800 M 2504 0 1 EPB41 NA18552 nsv5869796 1 29263980 29265117 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350854 M 914 0 1 EPB41 nsv4043259 1 29264008 29265118 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849637 M 10847 0 1 EPB41 nsv5425272 1 29264008 29265118 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900481 M 3202 0 1 EPB41 nsv5829829 1 29264022 29265121 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464653 M 914 0 0 EPB41 nsv6547817 1 29264294 29269104 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252335 M 19652 0 0 EPB41 nsv6537929 1 29266219 29267143 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252336 M 19652 0 0 EPB41 nsv6331606 1 29266349 29268615 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059990 M 19652 0 1 EPB41 nsv6317080 1 29266997 29269893 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059991 M 19652 0 1 EPB41 nsv4041934 1 29267567 29268522 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849638 M 10847 0 1 EPB41 nsv6541964 1 29285060 29286130 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252338 M 19652 0 0 EPB41 nsv6551889 1 29285326 29285746 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252339 M 19652 0 0 EPB41 nsv6549185 1 29285461 29285510 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252340 M 19652 0 0 EPB41 nsv6539049 1 29286523 29287026 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252341 M 19652 0 0 EPB41 nsv4041227 1 29287394 29288057 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849639 M 10847 0 1 EPB41 nsv4325173 1 29288405 29289200 OTHER inversion gnomAD_Structural_Variants 32461652 Sequencing nssv16091259 M 10847 0 0 EPB41 nsv6555511 1 29292349 29293494 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252342 M 19652 0 0 EPB41 nsv1133831 1 29294712 29294777 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970154 M 2 0 1 EPB41 KWS2 nsv4460809 1 29299490 29299491 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032131 M 10847 1 0 EPB41 nsv5676436 1 29299505 29299505 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193362 M 3202 1 0 EPB41 nsv5411899 1 29299505 29299556 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900482 M 3202 1 0 EPB41 dgv142n223 1 29301297 29302501 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6536935,nsv6539214 M 19652 0 0 EPB41 nsv5983901 1 29301597 29301736 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530293 M 405 0 1 EPB41 nsv5421850 1 29304130 29304262 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900483 M 3202 0 1 EPB41 nsv511687 1 29304288 29306446 CNV loss Arlt_et_al_2011 21212237 Sequencing,SNP array nssv626326 M 1 0 1 EPB41 1 nsv5829682 1 29304366 29306249 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465413 M 914 0 0 EPB41 esv25713 1 29304427 29306310 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv18451 M 40 0 2 EPB41 NA18517,NA18858 esv2745852 1 29304434 29306135 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6972375 M 96 0 1 EPB41 SSM029 esv3560060 1 29304438 29306230 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758807 M 767 0 1 EPB41 nsv5575516 1 29304451 29306208 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064949 M 35 0 1 EPB41 HG03125 nsv5878213 1 29304451 29306208 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357435 M 914 0 1 EPB41 esv2670595 1 29304451 29306209 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5912226,essv6167765,essv6246310,essv5904087,essv5583618,essv5658047,essv5642496,essv6460097,essv6182760,essv6087254,essv5732508,essv6352559,essv5980330,essv5990446,essv5559875,essv6328030,essv6387264,essv6233067,essv5922813,essv6463801,essv5906413 M 1151 0 21 EPB41 HG00115,HG01069,HG01108,HG01125,NA18517,NA18858,NA18933,NA19130,NA19197,NA19350,NA19393,NA19403,NA19435,NA19440,NA19455,NA19456,NA19468,NA19472,NA19651,NA19707,NA20778 esv3585596 1 29304451 29306212 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9894864,essv9894872,essv9894861,essv9894876,essv9894863,essv9894880,essv9894865,essv9894871,essv9894862,essv9894873,essv9894866,essv9894884,essv9894807,essv9894827,essv9894874,essv9894809,essv9894823,essv9894883,essv9894806,essv9894838,essv9894868,essv9894811,essv9894854,essv9894882,essv9894812,essv9894857,essv9894879,essv9894813,essv9894855,essv9894869,essv9894808,essv9894831,essv9894875,essv9894810,essv9894817,essv9894887,essv9894825,essv9894877,essv9894818,essv9894878,essv9894832,essv9894885,essv9894845,essv9894881,essv9894843,essv9894886,essv9894833,essv9894870,essv9894842,essv9894867,essv9894837,essv9894802,essv9894850,essv9894803,essv9894822,essv9894804,essv9894844,essv9894805,essv9894846,essv9894900,essv9894841,essv9894890,essv9894849,essv9894888,essv9894840,essv9894896,essv9894860,essv9894891,essv9894836,essv9894893,essv9894834,essv9894898,essv9894856,essv9894899,essv9894830,essv9894895,essv9894847,essv9894892,essv9894826,essv9894889,essv9894852,essv9894894,essv9894819,essv9894897,essv9894851,essv9894801,essv9894829,essv9894835,essv9894821,essv9894848,essv9894839,essv9894853,essv9894820,essv9894816,essv9894814,essv9894824,essv9894858,essv9894815,essv9894859,essv9894828 M 2504 0 100 EPB41 HG00238,HG01069,HG01085,HG01108,HG01125,HG01790,HG01879,HG02053,HG02284,HG02307,HG02332,HG02420,HG02465,HG02497,HG02546,HG02557,HG02588,HG02595,HG02621,HG02678,HG02786,HG02836,HG02837,HG02839,HG02879,HG02888,HG02896,HG02923,HG02974,HG03024,HG03074,HG03120,HG03121,HG03124,HG03127,HG03133,HG03135,HG03162,HG03163,HG03189,HG03193,HG03199,HG03209,HG03224,HG03258,HG03268,HG03271,HG03295,HG03301,HG03303,HG03342,HG03369,HG03380,HG03388,HG03391,HG03394,HG03442,HG03446,HG03469,HG03478,HG03557,HG03565,HG03578,HG03668,HG03911,HG04153,NA18517,NA18858,NA18876,NA18881,NA18933,NA19019,NA19027,NA19030,NA19042,NA19098,NA19113,NA19130,NA19137,NA19159,NA19184,NA19197,NA19206,NA19209,NA19222,NA19314,NA19350,NA19393,NA19403,NA19435,NA19440,NA19455,NA19456,NA19468,NA19472,NA19651,NA19707,NA19984,NA20778,NA20905 nsv5983577 1 29304452 29306209 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528077 M 405 0 1 EPB41 nsv4035474 1 29304454 29306209 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849640 M 10847 0 1 EPB41 nsv5417309 1 29304454 29306209 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900484 M 3202 0 1 EPB41 nsv6318179 1 29304454 29306209 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059992 M 19652 0 1 EPB41 nsv945858 1 29304688 29309707 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756778,nssv1756853,nssv1756780,nssv1756866,nssv1756862,nssv1756843,nssv1756786,nssv1756839,nssv1756787,nssv1756830,nssv1756779,nssv1756825,nssv1756781,nssv1756872,nssv1756860,nssv1756819,nssv1756803,nssv1756833,nssv1756863,nssv1756816,nssv1756793,nssv1756822,nssv1756804,nssv1756841,nssv1756782,nssv1756827,nssv1756795,nssv1756818,nssv1756857,nssv1756844,nssv1756854,nssv1756835,nssv1756810,nssv1756828,nssv1756858,nssv1756820,nssv1756790,nssv1756864,nssv1756794,nssv1756831,nssv1756797,nssv1756870,nssv1756811,nssv1756837,nssv1756855,nssv1756842,nssv1756813,nssv1756845,nssv1756805,nssv1756849,nssv1756809,nssv1756868,nssv1756789,nssv1756865,nssv1756791,nssv1756869,nssv1756859,nssv1756847,nssv1756796,nssv1756834,nssv1756807,nssv1756815,nssv1756785,nssv1756852,nssv1756799,nssv1756826,nssv1756808,nssv1756829,nssv1756798,nssv1756817,nssv1756777,nssv1756836,nssv1756812,nssv1756867,nssv1756802,nssv1756873,nssv1756801,nssv1756846,nssv1756784,nssv1756838,nssv1756792,nssv1756832,nssv1756861,nssv1756821,nssv1756783,nssv1756848,nssv1756800,nssv1756823,nssv1756856,nssv1756840,nssv1756806,nssv1756871,nssv1756814,nssv1756851,nssv1756788,nssv1756824,nssv1756850 M 97 10 0 EPB41 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv5687533 1 29308125 29308125 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193696 M 3202 1 0 EPB41 nsv5403863 1 29308125 29308176 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900485 M 3202 1 0 EPB41 nsv6334833 1 29313006 29315744 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059993 M 19652 0 1 EPB41 nsv5829683 1 29314622 29317180 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461993 M 914 0 0 EPB41 nsv5870637 1 29314655 29319080 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352563 M 914 0 1 EPB41 nsv6547923 1 29314715 29314933 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252345 M 19652 0 0 EPB41 nsv4044004 1 29315035 29316190 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849641 M 10847 0 1 EPB41 nsv5536020 1 29319571 29319615 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900487 M 3202 1 0 EPB41 nsv6317566 1 29320393 29326775 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059994 M 19652 0 1 EPB41 nsv5881250 1 29320981 29321461 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361704 M 914 0 1 EPB41 nsv3192886 1 29320981 29321462 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358875 M 9 0 1 EPB41 HG00514 nsv3521362 1 29321459 29321459 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440545 M 9 1 0 EPB41 HG00733 nsv3064110 1 29321460 29321460 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14036527 M 2 1 0 EPB41 NA12878 nsv3524525 1 29321461 29321461 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378092,nssv14413520 M 9 2 0 EPB41 HG00514,NA19240 nsv3952215 1 29321461 29321461 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193124 M 1 1 0 EPB41 HG002 esv3664688 1 29321462 29321462 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487422 M 20 1 0 EPB41 nsv2801177 1 29321462 29321462 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13692723 M 2 1 0 EPB41 nsv3323559 1 29321462 29321462 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14486085,nssv14477432,nssv14476967,nssv14487428,nssv14481122,nssv14473181,nssv14477450,nssv14476525,nssv14477080,nssv14477109,nssv14489806,nssv14481361 M 14 12 0 EPB41 CHM13,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv4445063 1 29321462 29321462 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15758581 M 1 1 0 EPB41 nsv5541818 1 29321462 29321462 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900488 M 3202 1 0 EPB41 nsv5612290 1 29321462 29321462 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064950 M 35 1 0 EPB41 HG00731 nsv5955171 1 29321462 29321462 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17362223 M 914 1 0 EPB41 nsv6047990 1 29321462 29321462 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533631 M 405 1 0 EPB41 nsv4535296 1 29321462 29321463 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032132 M 10847 1 0 EPB41 nsv4756465 1 29321473 29321473 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16274740 M 25 1 0 EPB41 nsv4557252 1 29324988 29324989 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032133 M 10847 1 0 EPB41 nsv6536899 1 29325591 29326571 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252346 M 19652 0 0 EPB41 nsv6543846 1 29325726 29326306 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252347 M 19652 0 0 EPB41 nsv6538586 1 29326369 29327786 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252348 M 19652 0 0 EPB41 nsv6552063 1 29326766 29327596 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252349 M 19652 0 0 EPB41 nsv5416149 1 29327131 29327185 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900490 M 3202 1 0 EPB41 nsv6551402 1 29332950 29333244 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252350 M 19652 0 0 EPB41 nsv6325627 1 29334013 29336412 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059995 M 19652 0 1 EPB41 nsv6547942 1 29340291 29340577 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252351 M 19652 0 0 EPB41 nsv5683395 1 29340367 29340367 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17194324 M 3202 1 0 EPB41 nsv6549799 1 29341770 29342708 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252352 M 19652 0 0 EPB41 nsv7579 1 29347461 29392105 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv4053 M 9 0 1 EPB41 NA12878 dgv143n223 1 29348159 29348973 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6555151,nsv6536840 M 19652 0 0 EPB41 nsv6545427 1 29348171 29349200 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252354 M 19652 0 0 EPB41 nsv5683841 1 29348903 29348903 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193407 M 3202 1 0 EPB41 nsv4051648 1 29348961 29349972 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963855 M 10847 1 0 EPB41 nsv5829980 1 29348999 29352474 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17466029 M 914 0 0 EPB41 nsv6326959 1 29349013 29350912 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059996 M 19652 0 1 EPB41 nsv4518039 1 29349053 29352462 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849642 M 10847 0 1 EPB41 nsv5562353 1 29349077 29541047 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900492 M 3202 0 0 EPB41,MECR,SRSF4,TMEM200B nsv4562992 1 29349077 29541085 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789156 M 10847 0 0 EPB41,MECR,SRSF4,TMEM200B nsv5976208 1 29349078 29541046 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17367034 M 914 0 0 EPB41,MECR,SRSF4,TMEM200B nsv6547430 1 29349079 29541048 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252356 M 19652 0 0 EPB41,MECR,SRSF4,TMEM200B nsv6536621 1 29349081 29349576 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252357 M 19652 0 0 EPB41 nsv5420825 1 29349118 29352374 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900493 M 3202 0 1 EPB41 nsv6540404 1 29353466 29354079 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252358 M 19652 0 0 EPB41 nsv5683110 1 29356646 29356646 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17194426 M 3202 1 0 EPB41 nsv6241366 1 29356646 29356646 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17845216 M 1021 1 0 EPB41 nsv6241377 1 29359037 29359037 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17845217 M 1021 1 0 EPB41 nsv4461112 1 29359879 29359880 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032135 M 10847 1 0 EPB41 nsv6538065 1 29366209 29366810 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252359 M 19652 0 0 EPB41 nsv5572842 1 29366888 29369085 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064953 M 35 0 1 EPB41 HG03009 nsv5415741 1 29366888 29369086 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900494 M 3202 0 1 EPB41 nsv6550135 1 29367514 29369278 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252360 M 19652 0 0 EPB41 nsv5829684 1 29369969 29371368 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454808 M 914 0 0 EPB41 nsv6546734 1 29371991 29372304 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252361 M 19652 0 0 EPB41 nsv5616753 1 29373390 29373390 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064954 M 35 1 0 EPB41 HG00864 nsv4461113 1 29373390 29373391 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032136 M 10847 1 0 EPB41 nsv6060406 1 29373400 29373400 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527486 M 405 1 0 EPB41 nsv5675176 1 29373414 29373414 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205737 M 3202 1 0 EPB41 nsv5406221 1 29373414 29373465 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900497 M 3202 1 0 EPB41 nsv5956479 1 29373765 29373765 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17368898 M 914 1 0 EPB41 nsv3210352 1 29374343 29374769 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358905,nssv14358906,nssv14358907,nssv14358908 M 9 0 4 EPB41 HG00733,NA19238,NA19239,NA19240 esv3664698 1 29374398 29374398 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487431 M 20 1 0 EPB41 nsv6550105 1 29377435 29378175 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252362 M 19652 0 0 EPB41 nsv3520579 1 29382164 29382164 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376295,nssv14413521 M 9 2 0 EPB41 HG00514,NA19240 nsv3946164 1 29382164 29382164 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193125 M 1 1 0 EPB41 HG002 nsv5614486 1 29382164 29382164 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064955 M 35 1 0 EPB41 HG00732 nsv5957314 1 29382164 29382164 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366929 M 914 1 0 EPB41 nsv6051789 1 29382164 29382164 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521129 M 405 1 0 EPB41 esv3674748 1 29382164 29382165 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496477 M 20 0 0 EPB41 nsv4535617 1 29382164 29382165 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032137 M 10847 1 0 EPB41 nsv2802080 1 29382165 29382165 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686678 M 2 1 0 EPB41 nsv3324256 1 29382165 29382165 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14478476,nssv14472619,nssv14472579,nssv14486889,nssv14477282,nssv14484786,nssv14484834,nssv14472893 M 14 8 0 EPB41 CHM13,HG00514,HG02059,HG02106,HG02818,NA12878,NA19240,NA19434 nsv3064111 1 29382173 29382173 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017024 M 2 1 0 EPB41 NA12878 nsv3522705 1 29382178 29382178 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440546 M 9 1 0 EPB41 HG00733 nsv3561815 1 29382179 29382179 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358949,nssv14358950,nssv14358951 M 9 3 0 EPB41 HG00513,HG00514,HG00733 nsv5721935 1 29386477 29386477 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17234485 M 3202 1 0 EPB41 nsv5557238 1 29386477 29386528 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900499 M 3202 1 0 EPB41 nsv1012565 1 29387637 29439429 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3473342 M 11257 0 1 EPB41 nsv4045269 1 29392217 29392697 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963856 M 10847 1 0 EPB41 nsv5431809 1 29392217 29392697 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900500 M 3202 1 0 EPB41 nsv6539252 1 29406027 29406301 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252363 M 19652 0 0 EPB41 nsv6551527 1 29408317 29408929 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252364 M 19652 0 0 EPB41 nsv4461114 1 29423467 29423468 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032138 M 10847 1 0 EPB41 nsv6059000 1 29423472 29423472 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520916 M 405 1 0 EPB41 nsv5678593 1 29423478 29423478 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193461 M 3202 1 0 EPB41 nsv5398838 1 29423478 29423529 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900501 M 3202 1 0 EPB41 esv3671059 1 29426769 29426769 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493158 M 20 1 0 EPB41 nsv4756869 1 29426822 29426822 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16267287 M 25 1 0 EPB41 nsv3951890 1 29426825 29426825 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193126 M 1 1 0 EPB41 HG002 nsv5618769 1 29426825 29426825 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064956 M 35 1 0 EPB41 HG00731 nsv5962090 1 29426825 29426825 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17360910 M 914 1 0 EPB41 nsv6054737 1 29426825 29426825 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522677 M 405 1 0 EPB41 nsv2801911 1 29426826 29426826 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13681215 M 2 1 0 EPB41 nsv3323560 1 29426826 29426826 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14491481,nssv14481013,nssv14475918,nssv14490239,nssv14481666 M 14 5 0 EPB41 CHM1,HG00268,HG01352,HG04217,NA12878 nsv4445064 1 29426842 29426842 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15768076 M 1 1 0 EPB41 nsv509091 1 29429732 29490411 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619783 M 4 1 0 EPB41,SRSF4,TMEM200B NA10860 nsv6536351 1 29433095 29433660 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252365 M 19652 0 0 EPB41 nsv6327005 1 29433213 29436012 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059997 M 19652 0 1 EPB41 nsv6320260 1 29433441 29434212 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059998 M 19652 0 1 EPB41 nsv3323358 1 29434970 29434970 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483737 M 14 1 0 EPB41 HG04217 nsv5983756 1 29435170 29435266 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520247 M 405 0 1 EPB41 nsv4032452 1 29436241 29436316 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849643 M 10847 0 1 EPB41 esv2745863 1 29440959 29441829 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6950351 M 96 0 1 EPB41 SSM004 nsv4517637 1 29440969 29441649 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849645 M 10847 0 1 EPB41 nsv5414134 1 29440969 29441649 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900502 M 3202 0 1 EPB41 esv3585601 1 29440973 29441741 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895048,essv9895049,essv9895050 M 2504 0 3 EPB41 HG00674,HG02392,HG02410 nsv5430589 1 29448031 29448091 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900503 M 3202 0 1 TMEM200B nsv6330489 1 29455848 29456150 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059999 M 19652 0 1 "" nsv5433621 1 29456138 29456365 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900504 M 3202 1 0 "" nsv5429709 1 29459831 29464535 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900505 M 3202 1 0 "" nsv6322650 1 29460613 29462412 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203553 M 19652 1 0 "" nsv5722459 1 29462119 29462119 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17236949 M 3202 1 0 "" nsv6329876 1 29462373 29470782 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203554 M 19652 1 0 "" nsv4042940 1 29462403 29470784 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963857 M 10847 1 0 "" nsv5983986 1 29464003 29464077 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524510 M 405 0 1 "" esv3585602 1 29465025 29480533 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895053,essv9895052,essv9895051 M 2504 3 0 SRSF4 HG03559,HG03913,HG03922 nsv6319251 1 29465105 29466314 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060000 M 19652 0 1 "" nsv5429931 1 29465114 29468201 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900507 M 3202 0 1 "" nsv6316116 1 29466613 29468212 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060001 M 19652 0 1 "" nsv5875787 1 29467841 29470282 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354155 M 914 0 1 "" nsv5829981 1 29468064 29470188 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464708 M 914 0 0 "" nsv5874268 1 29470250 29474151 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368699 M 914 0 1 "" nsv6323490 1 29471540 29474039 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060002 M 19652 0 1 "" nsv4537738 1 29476376 29476377 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032139 M 10847 1 0 SRSF4 esv3674751 1 29476379 29476380 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496480 M 20 0 0 SRSF4 nsv6330360 1 29480360 29480954 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060003 M 19652 0 1 SRSF4 nsv4037163 1 29480398 29480954 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849646 M 10847 0 1 SRSF4 nsv5419247 1 29480819 29480984 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900508 M 3202 1 0 SRSF4 nsv5615454 1 29480827 29480827 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064957 M 35 1 0 SRSF4 HG01114 nsv6549875 1 29484671 29484981 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252366 M 19652 0 0 SRSF4 nsv4047577 1 29486814 29486918 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963859 M 10847 1 0 SRSF4 nsv5679189 1 29490288 29490288 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17194077 M 3202 1 0 SRSF4 nsv5412387 1 29490288 29490339 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900510 M 3202 1 0 SRSF4 nsv4461869 1 29496981 29496982 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032140 M 10847 1 0 SRSF4 nsv5883359 1 29501659 29501932 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352734 M 914 0 1 SRSF4 nsv4042854 1 29503938 29507007 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849647 M 10847 0 1 SRSF4 nsv6316070 1 29503938 29507007 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060004 M 19652 0 1 SRSF4 nsv5417909 1 29510483 29510791 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900511 M 3202 0 1 "" esv3560071 1 29510489 29510830 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758818 M 767 0 1 "" nsv5983757 1 29510503 29510796 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526721 M 405 0 1 "" nsv5580782 1 29510503 29510798 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064958 M 35 0 1 "" HG00731 nsv5883804 1 29510503 29510798 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352629 M 914 0 1 "" nsv3525806 1 29510503 29510799 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358985,nssv14358984 M 9 0 2 "" HG00731,HG00733 nsv6332739 1 29510503 29510799 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060005 M 19652 0 1 "" nsv3323848 1 29510505 29510800 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14489994 M 14 0 1 "" HG00733 nsv3179412 1 29510510 29510806 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14446554 M 9 0 1 "" HG00733 nsv6316368 1 29512040 29515187 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060006 M 19652 0 1 "" nsv1122321 1 29514440 29514506 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970529 M 2 0 1 "" KWS2 nsv5576618 1 29515671 29515802 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064959 M 35 0 1 "" HG02587 nsv5879071 1 29515671 29515802 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356688 M 914 0 1 "" esv3664722 1 29517310 29517310 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487453 M 20 1 0 "" nsv1113097 1 29532111 29532173 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967991 M 2 0 1 MECR KWS2 nsv5983902 1 29540621 29540920 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535288 M 405 0 1 MECR nsv6327646 1 29545179 29549887 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060007 M 19652 0 1 MECR nsv6333404 1 29551237 29553231 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203556 M 19652 1 0 MECR nsv6546491 1 29552511 29553541 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252367 M 19652 0 0 MECR nsv822220 1 29561997 29565391 CNV gain Park_et_al_2010 20364138 Oligo aCGH nssv1433414 M 31 1 0 PTPRU NA18526 nsv1118109 1 29564100 29564400 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980328 M 2 0 1 PTPRU KWS1 nsv834546 1 29572282 29760301 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444407,nssv1444418 M 95 0 2 PTPRU nsv5953156 1 29572850 29572850 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17362716 M 914 1 0 PTPRU nsv5884737 1 29573297 29577754 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352160 M 914 0 1 PTPRU nsv5829685 1 29573328 29577718 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451815 M 914 0 0 PTPRU nsv5407676 1 29596803 29596854 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900514 M 3202 1 0 PTPRU nsv6544794 1 29600577 29601291 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252368 M 19652 0 0 PTPRU nsv4044280 1 29604281 29604335 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849648 M 10847 0 1 PTPRU nsv4041491 1 29617883 29618602 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849649 M 10847 0 1 PTPRU nsv6322158 1 29618883 29706521 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203557 M 19652 1 0 PTPRU nsv1002686 1 29620756 29699116 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3465095 M 11257 1 0 PTPRU nsv545922 1 29620887 29678774 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712054 M 17421 0 1 PTPRU nsv4461115 1 29641437 29641438 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032141 M 10847 1 0 PTPRU nsv4461342 1 29658085 29658086 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032142 M 10847 1 0 "" nsv4532827 1 29658764 29658765 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032143 M 10847 1 0 "" nsv4461343 1 29666009 29666010 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032145 M 10847 1 0 "" nsv4734921 1 29680888 29698698 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16276644 M 25 0 1 "" nsv6321225 1 29686164 29690593 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060011 M 19652 0 1 "" nsv4737437 1 29691884 29691953 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16295149 M 25 0 1 "" nsv5983903 1 29691896 29691966 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529694 M 405 0 1 "" nsv5605424 1 29691978 29691978 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064963 M 35 1 0 "" HG03683 nsv4568669 1 29693514 29693515 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032146 M 10847 1 0 "" nsv4516495 1 29693998 30238000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963861 M 10847 1 0 "" nsv3216774 1 29696116 29697624 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14271117 M 9 1 0 "" HG00512 nsv5983579 1 29699168 29707282 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17517824 M 405 0 1 "" nsv4049452 1 29699171 29707282 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849650 M 10847 0 1 "" nsv4461116 1 29701127 29701128 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032147 M 10847 1 0 "" nsv5549410 1 29701140 29701178 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900517 M 3202 1 0 "" nsv5728730 1 29702483 29702483 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17249573 M 3202 1 0 "" nsv6331578 1 29707939 29708477 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060012 M 19652 0 1 "" nsv5829830 1 29712938 29717137 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451032 M 914 0 0 "" nsv5867730 1 29713529 29717156 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17365724 M 914 1 0 "" nsv6334926 1 29720521 29720839 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060013 M 19652 0 1 "" dgv5n199 1 29720839 31129337 OTHER inversion Quan_et_al_2021 34034800 Sequencing nsv4765174,nsv4760859,nsv4767570 M 25 0 0 "" esv3360939 1 29725131 29725131 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8653238,essv8653236,essv8653237 M 185 3 0 "" NA19238,NA19239,NA19240 nsv4560398 1 29726262 29726263 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032148 M 10847 1 0 "" nsv4043251 1 29739328 29739448 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963860 M 10847 1 0 "" esv3585603 1 29739799 29740171 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895054,essv9895058,essv9895060,essv9895056,essv9895061,essv9895055,essv9895064,essv9895059,essv9895062,essv9895057,essv9895063 M 2504 0 11 "" HG02731,HG03765,HG03780,HG03864,HG03882,HG03886,NA19114,NA19679,NA20908,NA21099,NA21102 nsv4052262 1 29765734 29765787 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849651 M 10847 0 1 "" nsv545923 1 29773040 29783755 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712055 M 17421 0 1 "" nsv5555962 1 29773224 29776352 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900519 M 3202 0 0 "" nsv5549207 1 29776333 29776333 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900520 M 3202 1 0 "" nsv4754128 1 29780294 29780294 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16281729 M 25 1 0 "" nsv5617607 1 29780310 29780310 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064965 M 35 1 0 "" HG00512 nsv5960884 1 29780310 29780310 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17367760 M 914 1 0 "" nsv6054882 1 29780310 29780310 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530156 M 405 1 0 "" nsv3323359 1 29780311 29780311 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480784 M 14 1 0 "" HG00514 nsv3541256 1 29780317 29780317 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14384510,nssv14413522 M 9 2 0 "" HG00514,NA19240 nsv1125297 1 29780874 30847912 OTHER inversion Alsmadi_et_al_2014 24896259 Sequencing nssv3983469 M 2 0 0 "" KWS2 nsv6329166 1 29781002 29788225 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060014 M 19652 0 1 "" nsv4052392 1 29784613 29785495 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849653 M 10847 0 1 "" nsv4044558 1 29798350 29799201 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849654 M 10847 0 1 "" nsv6321921 1 29819513 29820530 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203558 M 19652 1 0 "" nsv481413 1 29832028 29832028 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018670 M 9 0 0 "" nsv474654 1 29834711 29834711 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011016 M 9 1 0 "" NA18956 esv3577797 1 29835383 29844485 CNV loss Uddin_et_al_2014 25503493 SNP array essv9834199,essv9834310,essv9834088,essv9833977 M 873 0 4 "" 400295PS,400650RM,401719RL,401958MF nsv7590 1 29836316 29867893 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5449 M 9 1 0 "" NA19129 nsv478286 1 29837884 29837884 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015579 M 9 1 0 "" NA18507 nsv471948 1 29838507 29838507 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015235 M 9 1 0 "" NA18555 nsv5886795 1 29838978 29839131 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365661 M 914 0 1 "" nsv4460810 1 29839690 29839691 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032149 M 10847 1 0 "" nsv473458 1 29840818 29840818 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015557 M 9 1 0 "" NA19129 esv3683183 1 29842270 29842331 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467941 M 20 0 1 "" nsv3323360 1 29845151 29845151 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481840 M 14 1 0 "" HG02106 nsv3323361 1 29845165 29845232 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489061 M 14 0 1 "" HG02106 nsv3323563 1 29845224 29845224 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489581 M 14 1 0 "" NA19434 nsv4750647 1 29845249 29845249 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16275532 M 25 1 0 "" esv3671066 1 29845252 29845252 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493164 M 20 1 0 "" nsv3950541 1 29845252 29845252 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193127 M 1 1 0 "" HG002 nsv4445065 1 29845252 29845252 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766621 M 1 1 0 "" nsv5621801 1 29845252 29845252 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064968 M 35 1 0 "" HG00731 nsv5964850 1 29845252 29845252 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17355197 M 914 1 0 "" nsv6059134 1 29845252 29845252 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526832 M 405 1 0 "" nsv2801178 1 29845253 29845253 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699009 M 2 1 0 "" nsv3051703 1 29845253 29845253 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14027790 M 2 1 0 "" NA12878 nsv3324259 1 29845253 29845253 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475432,nssv14473578,nssv14485160,nssv14476785,nssv14487338,nssv14491403,nssv14489448,nssv14488448,nssv14480191,nssv14480581,nssv14473026,nssv14485291 M 14 12 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA19240 esv1675706 1 29845254 29845254 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4292225 M 2 1 0 "" HuRef nsv5551759 1 29845254 29845303 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900522 M 3202 1 0 "" esv2513036 1 29845255 29845330 CNV deletion McKernan_et_al_2009 19546169 Sequencing essv5332447 M 1 0 1 "" NA18507 nsv4534752 1 29853117 29853118 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032150 M 10847 1 0 "" nsv6054407 1 29853121 29853121 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533101 M 405 1 0 "" nsv5681758 1 29853135 29853135 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17193539 M 3202 1 0 "" nsv6241388 1 29853135 29853135 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17845284 M 1021 1 0 "" nsv5413632 1 29853135 29853186 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900524 M 3202 1 0 "" esv2745874 1 29860026 29860243 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880427 M 96 0 1 "" SSM094 nsv5882166 1 29860038 29860241 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349929 M 914 0 1 "" nsv5983581 1 29860038 29860242 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531464 M 405 0 1 "" nsv4046294 1 29860038 29860247 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849655 M 10847 0 1 "" nsv5427830 1 29860038 29860247 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900525 M 3202 0 1 "" nsv4460811 1 29860287 29860288 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032151 M 10847 1 0 "" nsv6328567 1 29860828 29861284 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060015 M 19652 0 1 "" nsv5881024 1 29861569 29862142 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350081 M 914 0 1 "" nsv5983760 1 29861569 29862143 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521023 M 405 0 1 "" nsv4034638 1 29861569 29862145 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849656 M 10847 0 1 "" nsv5416462 1 29861569 29862145 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900526 M 3202 0 1 "" esv2745885 1 29861580 29862134 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880428 M 96 0 1 "" SSM094 esv3306823 1 29862400 29862401 CNV mobile element insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7743833,essv7750536,essv7752664,essv7743073,essv7741603,essv7744847,essv7758940 M 185 7 0 "" NA18502,NA18505,NA18511,NA18916,NA19129,NA19190,NA19257 esv3390848 1 29862400 29862416 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8898746,essv8898749,essv8898745,essv8898742,essv8898743,essv8898748,essv8898744 M 185 7 0 "" NA18502,NA18505,NA18511,NA18916,NA19129,NA19190,NA19257 nsv5605835 1 29862407 29862407 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064969 M 35 1 0 "" HG02818 nsv4537577 1 29862407 29862408 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032152 M 10847 1 0 "" nsv3323564 1 29862408 29862408 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14481762,nssv14482970 M 14 2 0 "" HG02818,NA19434 nsv5690001 1 29862420 29862420 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205738,nssv17194155 M 3202 2 0 "" nsv5398025 1 29862420 29862471 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903498 M 3202 1 0 "" esv2745896 1 29863003 29863162 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6722019 M 96 0 1 "" SSM045 nsv5983582 1 29863112 29863166 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529497 M 405 0 1 "" esv3683188 1 29863112 29863167 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467946 M 20 0 1 "" nsv4517313 1 29863112 29863169 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849657 M 10847 0 1 "" nsv4734607 1 29863114 29863168 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16291727 M 25 0 1 "" nsv5582070 1 29863115 29863164 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064970 M 35 0 1 "" NA19238 nsv3323362 1 29863123 29863174 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483347 M 14 0 1 "" NA19434 nsv4049248 1 29871804 29873730 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849658 M 10847 0 1 "" nsv6335137 1 29873139 29873581 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060016 M 19652 0 1 "" esv3349279 1 29877963 31128746 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740960 M 185 1 0 "" NA19240 nsv6333506 1 30028083 30034448 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060017 M 19652 0 1 "" nsv6551918 1 30028083 30034450 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252370 M 19652 0 0 "" nsv5983761 1 30028083 30038858 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526066 M 405 0 1 "" nsv5976708 1 30028083 31128678 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17358519 M 914 0 0 "" dgv144n223 1 30028083 31128742 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6547293,nsv6555449,nsv6548662 M 19652 0 0 "" esv3434210 1 30028091 30028305 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740961 M 185 1 0 "" NA19240 nsv4035748 1 30028300 30039000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849659 M 10847 0 1 "" nsv4044238 1 30029943 30030359 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849660 M 10847 0 1 "" esv2665600 1 30030063 30030359 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5682306,essv6300127,essv5625167,essv5632347,essv5942592,essv6418988,essv6041150,essv6356017,essv6427709,essv5488020,essv5395635,essv6478127,essv6327709,essv6400125,essv5850666,essv6552465,essv5957883,essv6443043,essv6407389,essv6218310,essv5454502,essv6421142,essv6389536,essv6102544,essv5722367,essv5503733,essv6418033,essv5826926,essv5603640,essv6165030,essv5916873,essv5535120,essv6016694,essv5771602,essv5728220,essv5918376,essv6028032,essv5563387,essv5431178,essv5831166,essv6271783,essv6490860,essv5945894,essv6342344,essv5626585,essv6123789,essv6354229,essv5577078,essv5582285,essv6572283,essv6201234,essv5919324,essv6083447,essv6475090,essv5693378,essv5555170,essv5992165,essv5801771,essv6486343,essv6394269,essv6035639,essv6414944,essv5803148,essv5510926,essv6244095,essv6039147,essv6596038,essv6272609,essv6334438,essv6135054,essv6133799,essv6390778,essv5833543,essv6024370,essv6024496,essv5741762,essv5925316,essv6407078,essv5420909,essv5959224,essv6572089,essv6126622,essv6224667,essv5573185,essv6543811 M 1151 0 85 "" HG00133,HG00158,HG00178,HG00181,HG00237,HG00244,HG00251,HG00252,HG00260,HG00265,HG00267,HG00273,HG00280,HG00282,HG00327,HG00328,HG00331,HG00336,HG00353,HG00421,HG00556,HG00559,HG00589,HG00590,HG00693,HG00705,HG01048,HG01052,HG01069,HG01095,HG01113,HG01124,HG01137,HG01171,HG01350,HG01359,HG01375,HG01441,HG01461,HG01498,NA07346,NA11881,NA11994,NA12155,NA12272,NA18510,NA18523,NA18560,NA18592,NA18612,NA18621,NA18923,NA18987,NA19005,NA19129,NA19138,NA19197,NA19225,NA19328,NA19347,NA19359,NA19360,NA19396,NA19397,NA19437,NA19448,NA19452,NA19457,NA19625,NA19655,NA19657,NA19682,NA19720,NA19722,NA19747,NA19774,NA19777,NA19786,NA19818,NA19908,NA19909,NA20276,NA20346,NA20519,NA20542 nsv3323363 1 30030064 30030346 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476681 M 14 0 1 "" HG02106 nsv4750164 1 30030072 30030356 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16281896 M 25 0 1 "" nsv5567186 1 30030075 30030357 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064549 M 35 0 1 "" HG03732 nsv5870015 1 30030075 30030357 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17365113 M 914 0 1 "" nsv5983762 1 30030075 30030358 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530308 M 405 0 1 "" nsv5422598 1 30030075 30030359 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903499 M 3202 0 1 "" nsv6323377 1 30030075 30030359 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060018 M 19652 0 1 "" esv3560105 1 30030076 30030397 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758852 M 767 0 1 "" esv2745907 1 30030078 30030338 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6810348,essv6961580 M 96 0 2 "" SSM027,SSM076 nsv475123 1 30030521 30030521 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012228 M 9 1 0 "" NA19240 nsv4460812 1 30038098 30038099 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032153 M 10847 1 0 "" nsv472843 1 30039974 30039974 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3015530 M 9 1 0 "" NA18555 nsv6548141 1 30054658 30055794 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252371 M 19652 0 0 "" nsv4041886 1 30070971 30071669 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849662 M 10847 0 1 "" nsv6316876 1 30073865 30074250 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060019 M 19652 0 1 "" nsv6325961 1 30074575 30080954 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060020 M 19652 0 1 "" esv3585606 1 30082880 30091341 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895144,essv9895143 M 2504 0 2 "" HG01326,NA12872 nsv5432149 1 30083797 30091352 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903500 M 3202 0 1 "" nsv6333471 1 30083797 30091352 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060021 M 19652 0 1 "" dgv49n166 1 30083797 30091758 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4037536,nsv4049459 M 10847 0 2 "" nsv5686565 1 30084663 30084663 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17194195 M 3202 1 0 "" nsv5395562 1 30084663 30084714 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903502 M 3202 1 0 "" esv3664758 1 30085966 30085966 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487486 M 20 1 0 "" nsv6324223 1 30087848 30090047 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060022 M 19652 0 1 "" nsv6318472 1 30089028 30089398 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060023 M 19652 0 1 "" nsv6320622 1 30097141 30105547 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060024 M 19652 0 1 "" nsv5605648 1 30105462 30105462 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064552 M 35 1 0 "" HG03486 nsv4050335 1 30114708 30120156 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849665 M 10847 0 1 "" nsv6334378 1 30114708 30120156 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060025 M 19652 0 1 "" nsv4332242 1 30125333 30126225 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789157 M 10847 0 0 "" nsv6327390 1 30132248 30133747 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060026 M 19652 0 1 "" nsv6318379 1 30132982 30133542 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060027 M 19652 0 1 "" dgv4n21 1 30133502 30134671 CNV gain Shaikh_et_al_2009 19592680 SNP array nsv521489,nsv526370 M 2026 2 0 "" nsv4044744 1 30134462 30137584 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849666 M 10847 0 1 "" nsv5418622 1 30134462 30137584 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903503 M 3202 0 1 "" nsv6320104 1 30134462 30137584 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060028 M 19652 0 1 "" esv3585607 1 30134468 30137594 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895145 M 2504 0 1 "" HG03091 esv1005469 1 30134717 30140295 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565186 M 3 0 1 "" HuRef nsv6325570 1 30137843 30144250 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060029 M 19652 0 1 "" nsv6334959 1 30139072 30139930 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060030 M 19652 0 1 "" esv2674868 1 30144265 30149272 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5673754 M 1151 0 1 "" HG00704 esv3585608 1 30144346 30149207 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895146 M 2504 0 1 "" HG00704 nsv5424560 1 30144379 30149207 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903504 M 3202 0 1 "" nsv6147122 1 30144816 31011594 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903505 M 3202 0 0 "" nsv3280068 1 30151009 30151061 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14418576,nssv14392555 M 9 0 2 "" HG00514,NA19240 nsv5983905 1 30151028 30151081 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521327 M 405 0 1 "" nsv5566871 1 30151029 30151079 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064553 M 35 0 1 "" HG00512 nsv5869662 1 30151029 30151079 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366445 M 914 0 1 "" esv3560116 1 30151029 30151080 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758863 M 767 0 1 "" esv3683194 1 30151029 30151081 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467951 M 20 0 1 "" esv2991227 1 30151029 30151084 CNV deletion Pang_et_al_2013b 24192839 Sequencing essv7260794 M 1 0 1 "" HuRef esv1779209 1 30151031 30151082 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3956446 M 2 0 1 "" HuRef nsv4737792 1 30151031 30151085 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16274912 M 25 0 1 "" esv2745919 1 30151069 30151285 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6910064,essv6967946,essv6917450,essv6666911 M 96 0 4 "" SSM015,SSM017,SSM028,SSM030 nsv945860 1 30153169 30155317 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756884,nssv1756944,nssv1756959,nssv1756940,nssv1756875,nssv1756921,nssv1756876,nssv1756947,nssv1756883,nssv1756917,nssv1756877,nssv1756939,nssv1756900,nssv1756968,nssv1756908,nssv1756945,nssv1756958,nssv1756935,nssv1756894,nssv1756937,nssv1756960,nssv1756931,nssv1756903,nssv1756929,nssv1756892,nssv1756966,nssv1756911,nssv1756963,nssv1756951,nssv1756913,nssv1756905,nssv1756916,nssv1756886,nssv1756922,nssv1756895,nssv1756912,nssv1756889,nssv1756918,nssv1756957,nssv1756941,nssv1756910,nssv1756930,nssv1756902,nssv1756948,nssv1756907,nssv1756950,nssv1756882,nssv1756932,nssv1756955,nssv1756936,nssv1756909,nssv1756919,nssv1756893,nssv1756969,nssv1756899,nssv1756942,nssv1756887,nssv1756961,nssv1756953,nssv1756927,nssv1756954,nssv1756938,nssv1756897,nssv1756934,nssv1756879,nssv1756915,nssv1756874,nssv1756924,nssv1756952,nssv1756925,nssv1756896,nssv1756967,nssv1756956,nssv1756933,nssv1756881,nssv1756928,nssv1756890,nssv1756914,nssv1756885,nssv1756923,nssv1756880,nssv1756965,nssv1756901,nssv1756946,nssv1756878,nssv1756970,nssv1756904,nssv1756949,nssv1756906,nssv1756943,nssv1756891,nssv1756926,nssv1756888,nssv1756964,nssv1756898,nssv1756962,nssv1756920 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv2660718 1 30154856 30167410 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6098735 M 1151 0 1 "" HG00704 esv3585609 1 30154856 30167410 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895147 M 2504 0 1 "" HG00704 nsv5431745 1 30154859 30167410 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903506 M 3202 0 1 "" nsv7601 1 30158069 30184948 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2014 M 9 1 0 "" NA18555 nsv6057228 1 30159589 30159589 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523913 M 405 1 0 "" nsv5417927 1 30161568 30162000 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903507 M 3202 0 1 "" nsv6319751 1 30161648 30163547 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060031 M 19652 0 1 "" nsv4035820 1 30162657 30162723 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849667 M 10847 0 1 "" dgv35e199 1 30167185 30979742 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2657775,esv2668677 M 1151 0 20 "" NA06986,NA11931,NA12763,NA18498,NA18505,NA18508,NA18517,NA18522,NA18563,NA18592,NA18603,NA18861,NA18952,NA18964,NA18965,NA19093,NA19129,NA19137,NA19238,NA20798 nsv509102 1 30172906 30237727 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619784 M 4 1 0 "" NA10860 nsv4042855 1 30172948 30173965 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849668 M 10847 0 1 "" esv3585610 1 30172969 30173944 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895148 M 2504 0 1 "" NA20510 nsv5885904 1 30173006 30173964 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17360738 M 914 0 1 "" esv2674445 1 30173006 30173965 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5835052 M 1151 0 1 "" NA20510 nsv5983987 1 30173006 30173965 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527044 M 405 0 1 "" nsv5427373 1 30173009 30173965 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903508 M 3202 0 1 "" nsv6324520 1 30176743 30178560 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060032 M 19652 0 1 "" nsv4460813 1 30179388 30179389 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032155 M 10847 1 0 "" nsv1118110 1 30180100 30180500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980330 M 2 0 1 "" KWS1 nsv4739428 1 30180208 30180364 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16258956 M 25 0 1 "" nsv5983764 1 30180255 30180418 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528222 M 405 0 1 "" nsv2802081 1 30180270 30180270 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13701531 M 2 1 0 "" nsv3323364 1 30180270 30180270 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478945,nssv14483599 M 14 2 0 "" CHM1,CHM13 nsv5607359 1 30180282 30180282 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064554 M 35 1 0 "" HG00732 nsv3541837 1 30180311 30180311 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440549 M 9 1 0 "" HG00733 nsv5566870 1 30180322 30180391 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064555 M 35 0 1 "" HG03371 nsv4742792 1 30188590 30188757 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16264001 M 25 0 1 "" nsv5983906 1 30188601 30188759 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534435 M 405 0 1 "" nsv4461345 1 30194499 30194500 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032156 M 10847 1 0 "" nsv6043396 1 30196393 30196393 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532144 M 405 1 0 "" nsv3539647 1 30196398 30196398 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391301 M 9 1 0 "" NA19240 nsv3200579 1 30196398 30196505 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359743,nssv14359742,nssv14359741 M 9 3 0 "" NA19238,NA19239,NA19240 nsv5609244 1 30196498 30196498 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064557,nssv17064556 M 35 2 0 "" HG03125,HG03371 nsv4764404 1 30196646 30196646 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16283073 M 25 1 0 "" nsv3531186 1 30196711 30196711 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413525,nssv14440550 M 9 2 0 "" HG00514,HG00733 nsv3951914 1 30196711 30196711 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193139 M 1 1 0 "" HG002 nsv5622659 1 30196711 30196711 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064559,nssv17064558 M 35 2 0 "" HG00731,HG03371 nsv5965647 1 30196711 30196711 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17368106 M 914 1 0 "" nsv6058943 1 30196711 30196711 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531022 M 405 1 0 "" nsv2801816 1 30196712 30196712 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691749,nssv13682882 M 2 2 0 "" nsv3324262 1 30196712 30196712 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472333,nssv14473832,nssv14481085,nssv14473574,nssv14476664,nssv14477023,nssv14473045,nssv14477052,nssv14475511,nssv14487582,nssv14473201,nssv14485660,nssv14475951,nssv14474205 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3056802 1 30196713 30196713 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021583 M 2 1 0 "" CHM1 nsv3531272 1 30196716 30196716 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373652 M 9 1 0 "" NA19240 nsv950346 1 30199601 30201100 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997111 M 1 0 1 "" BILGI_BIOE esv3585611 1 30199842 30204007 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895150,essv9895151,essv9895149 M 2504 0 3 "" NA19307,NA19347,NA19446 nsv5885890 1 30199947 30204110 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17349870 M 914 0 1 "" esv2667679 1 30199947 30204111 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5533652,essv5743800,essv5617419 M 1151 0 3 "" NA19347,NA19373,NA19446 nsv4052363 1 30199950 30204111 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849669 M 10847 0 1 "" nsv5414506 1 30199950 30204111 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903511 M 3202 0 1 "" nsv6315950 1 30199950 30204111 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060033 M 19652 0 1 "" nsv1075369 1 30199999 30200800 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3764894 M 1 0 1 "" KWP1 dgv69n106 1 30200000 30200800 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1118111,nsv1121759 M 2 0 2 "" KWS1,KWS2 nsv3323566 1 30200051 30200133 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475692,nssv14483738,nssv14477740 M 14 0 3 "" HG00733,HG02818,NA19240 nsv3280648 1 30200056 30200139 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14377226 M 9 0 1 "" NA19240 dgv161n152 1 30200056 30200234 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280780,nsv3281667 M 9 0 2 "" HG00514,HG00733 nsv4036208 1 30200093 30200616 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963862 M 10847 1 0 "" nsv5573120 1 30200105 30200300 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064560 M 35 0 1 "" HG00731 nsv3940305 1 30200122 30200346 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182516 M 1 0 1 "" HG002 nsv5576922 1 30200133 30200188 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064561 M 35 0 1 "" NA19239 nsv5983988 1 30200142 30200312 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525614 M 405 0 1 "" nsv5617595 1 30200143 30200143 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064562 M 35 1 0 "" HG00512 nsv3324515 1 30200143 30200205 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483189 M 14 0 1 "" HG00514 nsv3949032 1 30200174 30200174 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193155,nssv15193151 M 1 1 0 "" HG002 nsv5622754 1 30200174 30200174 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064563 M 35 1 0 "" NA24385 nsv2801817 1 30200179 30200235 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690324 M 2 0 1 "" nsv3323567 1 30200179 30200235 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481199,nssv14482793,nssv14474781 M 14 0 3 "" CHM1,CHM13,HG04217 nsv3187239 1 30200180 30200236 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14446002 M 9 0 0 "" HG00733 nsv2801818 1 30200180 30200291 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13691958 M 2 0 1 "" nsv3053334 1 30200185 30200270 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14015995 M 2 0 1 "" NA12878 nsv5615218 1 30200207 30200207 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064564,nssv17064565 M 35 2 0 "" HG00513,HG03486 nsv4764112 1 30200208 30200208 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16277163 M 25 1 0 "" nsv4749705 1 30200208 30200464 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16275868 M 25 1 0 "" nsv3323568 1 30200214 30200214 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486838 M 14 1 0 "" HG02059 nsv3181786 1 30200217 30200269 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413526 M 9 0 0 "" HG00514 nsv6058321 1 30200241 30200241 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530802 M 405 1 0 "" nsv3323569 1 30200246 30200301 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476975,nssv14473457,nssv14482843 M 14 0 3 "" HG00268,HG00733,HG02106 nsv3323365 1 30200258 30200258 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488954 M 14 1 0 "" HG02059 nsv3282800 1 30200306 30200447 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387359 M 9 0 1 "" NA19240 nsv2801179 1 30200315 30200426 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13677900 M 2 0 1 "" nsv3323366 1 30200315 30200426 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485590,nssv14472232,nssv14486450,nssv14473255,nssv14476853,nssv14482576 M 14 0 6 "" CHM1,HG00514,HG00733,HG02818,NA12878,NA19240 nsv5573281 1 30200358 30200441 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064566 M 35 0 1 "" HG00512 nsv3181464 1 30200359 30200415 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14447303 M 9 0 0 "" HG00733 nsv3324516 1 30200369 30200369 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482905 M 14 1 0 "" NA19434 nsv5829686 1 30200416 30204284 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17449745 M 914 0 0 "" nsv3179951 1 30200433 30200489 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14419082 M 9 0 0 "" HG00514 nsv3187753 1 30200485 30200536 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413527 M 9 0 0 "" HG00514 nsv5613322 1 30200526 30200526 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064567 M 35 1 0 "" HG02587 nsv6041332 1 30200533 30200533 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518105 M 405 1 0 "" nsv3945778 1 30200608 30200608 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193156 M 1 1 0 "" HG002 nsv5610303 1 30200608 30200608 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064568 M 35 1 0 "" NA24385 nsv6054350 1 30200652 30200652 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518254 M 405 1 0 "" esv2667432 1 30203295 30203522 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6307949 M 1151 0 1 "" NA11919 nsv5423485 1 30224360 30226709 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903513 M 3202 0 1 "" nsv945861 1 30231331 30231938 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1756981,nssv1758915,nssv1758904,nssv1757013,nssv1756973,nssv1757023,nssv1756972,nssv1758882,nssv1756974,nssv1758889,nssv1756980,nssv1758910,nssv1756988,nssv1758885,nssv1758903,nssv1758873,nssv1756990,nssv1758893,nssv1756984,nssv1758906,nssv1756993,nssv1757017,nssv1758902,nssv1758895,nssv1757000,nssv1758887,nssv1756975,nssv1758891,nssv1757007,nssv1758914,nssv1756991,nssv1758907,nssv1756994,nssv1758884,nssv1756987,nssv1758877,nssv1757004,nssv1758872,nssv1757003,nssv1757020,nssv1758905,nssv1758878,nssv1758899,nssv1757018,nssv1757005,nssv1758908,nssv1756979,nssv1758892,nssv1756985,nssv1758883,nssv1757008,nssv1758874,nssv1758898,nssv1757014,nssv1756997,nssv1758913,nssv1756971,nssv1758888,nssv1756982,nssv1757016,nssv1756989,nssv1758876,nssv1758901,nssv1757009,nssv1756983,nssv1757019,nssv1756986,nssv1758911,nssv1756999,nssv1758875,nssv1756995,nssv1758890,nssv1756992,nssv1758912,nssv1756978,nssv1757012,nssv1757006,nssv1757015,nssv1756977,nssv1758886,nssv1756998,nssv1758894,nssv1756976,nssv1757011,nssv1756996,nssv1757021,nssv1758897,nssv1758879,nssv1757001,nssv1757010,nssv1758896,nssv1758880,nssv1758900,nssv1758881,nssv1757002,nssv1757022,nssv1758909 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4461346 1 30232953 30232954 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032157 M 10847 1 0 "" nsv4045664 1 30234700 30244247 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849670 M 10847 0 1 "" nsv4032959 1 30238982 30247768 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849672 M 10847 0 1 "" nsv3229516 1 30240325 30251471 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261255,nssv14261253,nssv14261256,nssv14261254,nssv14261252,nssv14261258,nssv14261257 M 9 7 0 "" HG00512,HG00513,HG00731,HG00732,HG00733,NA19238,NA19239 nsv4050485 1 30242000 30247000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849673 M 10847 0 1 "" nsv4038788 1 30242166 30924316 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963863 M 10847 1 0 "" nsv6319043 1 30242229 30924313 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203560 M 19652 1 0 "" nsv5425856 1 30242229 30924316 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903514 M 3202 1 0 "" esv3585612 1 30242237 30924254 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895152 M 2504 1 0 "" NA19684 nsv512729 1 30243143 30243172 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625355 M 1 1 0 "" 1 nsv1116593 1 30243719 30243995 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3978775 M 2 1 0 "" KWS2 nsv3324264 1 30243755 30243812 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489815,nssv14489576 M 14 0 2 "" HG02059,NA19434 nsv5870780 1 30243839 30243948 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362874 M 914 0 1 "" nsv5983990 1 30243862 30244016 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535576 M 405 0 1 "" nsv6040679 1 30243885 30243885 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523336 M 405 1 0 "" nsv3324521 1 30243922 30244017 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475352 M 14 0 1 "" HG02059 nsv5615409 1 30243964 30243964 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064575 M 35 1 0 "" HG00512 nsv5613862 1 30243986 30243986 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064576 M 35 1 0 "" HG03125 nsv3928304 1 30244158 30244158 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193158 M 1 1 0 "" HG002 nsv6054695 1 30244158 30244158 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522243 M 405 1 0 "" nsv5545203 1 30244158 30244185 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903515 M 3202 1 0 "" esv1170546 1 30244159 30244159 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4038385 M 2 1 0 "" HuRef nsv3053579 1 30244159 30244159 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021916 M 2 1 0 "" NA12878 nsv3190061 1 30244159 30244213 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440551 M 9 0 0 "" HG00733 nsv2802082 1 30244160 30244160 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691222 M 2 1 0 "" nsv3324522 1 30244160 30244160 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476675,nssv14472300,nssv14472075,nssv14488732,nssv14485076,nssv14483209,nssv14489646,nssv14487663,nssv14487801,nssv14488845,nssv14476270,nssv14478144,nssv14472809,nssv14481479 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3534846 1 30244162 30244162 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440552 M 9 1 0 "" HG00733 nsv5620880 1 30244162 30244162 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064577 M 35 1 0 "" HG00731 nsv3537330 1 30244163 30244163 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413528 M 9 1 0 "" HG00514 nsv3535792 1 30244175 30244175 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385970 M 9 1 0 "" NA19240 nsv3540290 1 30244180 30244180 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440553 M 9 1 0 "" HG00733 nsv2801820 1 30244187 30244187 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689278 M 2 1 0 "" nsv3535242 1 30244201 30244201 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413529 M 9 1 0 "" HG00514 nsv3538081 1 30244211 30244211 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440554 M 9 1 0 "" HG00733 esv1184465 1 30244213 30244213 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4058687 M 2 1 0 "" HuRef nsv3323572 1 30244241 30244241 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479787 M 14 1 0 "" HG04217 nsv3537552 1 30244248 30244248 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440555 M 9 1 0 "" HG00733 nsv3323573 1 30244269 30244269 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478215 M 14 1 0 "" HG04217 nsv1120188 1 30244273 30244337 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960953 M 2 1 0 "" KWS1 nsv3541225 1 30244289 30244289 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413530 M 9 1 0 "" HG00514 nsv3324523 1 30244308 30244308 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477491,nssv14479021 M 14 2 0 "" NA12878,NA19240 nsv5615219 1 30244385 30244385 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064578 M 35 1 0 "" HG00513 nsv5622005 1 30244445 30244445 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064579 M 35 1 0 "" NA18939 nsv3323368 1 30244564 30244564 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473871 M 14 1 0 "" HX1 nsv545924 1 30245413 30755532 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712056 M 17421 1 0 "" esv3585613 1 30245968 30289176 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895153 M 2504 1 0 "" NA19684 esv3577798 1 30246192 30365005 CNV loss Uddin_et_al_2014 25503493 SNP array essv9834422 M 873 0 1 "" 401858TP nsv4461347 1 30246745 30246746 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16032158 M 10847 1 0 "" nsv6060317 1 30246892 30246892 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534827 M 405 1 0 "" nsv4036817 1 30265527 30272967 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849674 M 10847 0 1 "" nsv5611814 1 30267454 30267454 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064585 M 35 1 0 "" NA18534 nsv5954737 1 30267454 30267454 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17354875 M 914 1 0 "" nsv6047584 1 30267454 30267454 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525601 M 405 1 0 "" nsv5605393 1 30267470 30267470 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064586 M 35 1 0 "" HG02587 nsv6319895 1 30269408 30271043 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060034 M 19652 0 1 "" nsv4049018 1 30269417 30269594 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849675 M 10847 0 1 "" nsv6331831 1 30290048 30291747 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060035 M 19652 0 1 "" nsv6332677 1 30290731 30418550 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060036 M 19652 0 1 "" nsv6320479 1 30293120 30299533 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060037 M 19652 0 1 "" dgv73e59 1 30297665 30299463 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3333765,esv3413761 M 185 2 0 "" NA19239,NA19240 esv2745930 1 30297869 30298383 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6972376 M 96 0 1 "" SSM029 nsv4742593 1 30298151 30298203 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16270876 M 25 0 1 "" nsv5580626 1 30298152 30298203 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064588 M 35 0 1 "" HG00731 nsv5882487 1 30298152 30298203 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17357347 M 914 0 1 "" esv3560138 1 30298152 30298204 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758885 M 767 0 1 "" nsv1133832 1 30298152 30298204 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990254,nssv3982121 M 2 0 2 "" KWS1,KWS2 nsv3935097 1 30298152 30298204 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181323 M 1 0 1 "" HG002 nsv4449164 1 30298152 30298204 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15763517 M 1 0 1 "" esv3683197 1 30298152 30298205 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467954 M 20 0 1 "" dgv162n152 1 30298152 30298210 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282045,nsv3526931 M 9 0 4 "" HG00512,HG00731,HG00732,HG00733 nsv5983765 1 30298152 30298211 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526571 M 405 0 1 "" nsv3055159 1 30298153 30298205 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14021585 M 2 0 1 "" CHM1 nsv2801912 1 30298154 30298205 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13680047 M 2 0 1 "" nsv3323574 1 30298154 30298205 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486345,nssv14481352,nssv14490051,nssv14472430 M 14 0 4 "" CHM1,HG00733,HG01352,HG04217 nsv1122322 1 30298285 30298361 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990255,nssv3982430 M 2 0 2 "" KWS1,KWS2 nsv5983766 1 30298355 30298449 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531625 M 405 0 1 "" nsv4516970 1 30298361 30298457 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849676 M 10847 0 1 "" nsv5423658 1 30298365 30298457 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903518 M 3202 0 1 "" nsv4046326 1 30298377 30298525 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963864 M 10847 1 0 "" nsv1142054 1 30298533 30298627 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3960954,nssv3993564 M 2 2 0 "" KWS1,KWS2 esv3585614 1 30305891 30362813 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895154 M 2504 1 0 "" NA19684 nsv479137 1 30308844 30308844 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3012333 M 9 0 0 "" nsv4461348 1 30317921 30317922 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030314 M 10847 1 0 "" nsv5690688 1 30317935 30317935 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17194523,nssv17205739 M 3202 2 0 "" nsv5403934 1 30317935 30317986 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903520 M 3202 1 0 "" nsv6317568 1 30321572 30323045 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060038 M 19652 0 1 "" nsv4045410 1 30321575 30323045 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849677 M 10847 0 1 "" nsv6316709 1 30323884 30326285 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060039 M 19652 0 1 "" nsv4036948 1 30328143 30347108 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849678 M 10847 0 1 "" nsv6335294 1 30328143 30347108 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060040 M 19652 0 1 "" esv2745941 1 30332221 30332373 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6972377 M 96 0 1 "" SSM029 nsv6330624 1 30338909 30343560 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060041 M 19652 0 1 "" nsv4033429 1 30339145 30341027 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849679 M 10847 0 1 "" nsv4036134 1 30342832 30342946 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963865 M 10847 1 0 "" esv8236 1 30345236 30346307 CNV loss Ahn_et_al_2009 19470904 Sequencing essv30677 M 1 0 0 "" nsv6138171 1 30345237 30346074 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903521 M 3202 0 1 "" nsv5427037 1 30345259 30346050 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903523 M 3202 1 0 "" nsv4762797 1 30346039 30346039 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16291979 M 25 1 0 "" nsv3064113 1 30346040 30346040 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14035829 M 2 1 0 "" NA12878 esv3664784 1 30346047 30346047 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487509 M 20 1 0 "" nsv3544008 1 30346047 30346047 CNV line1 insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440556,nssv14387723 M 9 2 0 "" HG00733,NA19240 nsv3943083 1 30346047 30346047 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191772 M 1 1 0 "" HG002 nsv4445066 1 30346047 30346047 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15764757 M 1 1 0 "" nsv5552960 1 30346047 30346047 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903524 M 3202 1 0 "" nsv5623070 1 30346047 30346047 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064589 M 35 1 0 "" HG00732 nsv6058095 1 30346047 30346047 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531483 M 405 1 0 "" nsv2801913 1 30346048 30346048 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13687236 M 2 1 0 "" nsv3060806 1 30346048 30346048 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019288 M 2 1 0 "" CHM1 nsv3324526 1 30346048 30346048 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478045,nssv14483231,nssv14491380,nssv14487568,nssv14472056,nssv14490741,nssv14474792,nssv14481043 M 14 8 0 "" CHM1,HG00268,HG01352,HG02059,HG02106,HG04217,NA12878,NA19240 nsv5948461 1 30346050 30346050 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17366655 M 914 1 0 "" esv3893303 1 30347578 30369610 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25787592 M 3017 0 1 "" esv3585616 1 30360030 30361084 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895164,essv9895163 M 2504 0 2 "" HG02141,NA19360 nsv5885997 1 30360035 30361105 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362046 M 914 0 1 "" nsv4044241 1 30360035 30361106 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849680 M 10847 0 1 "" nsv5421784 1 30360035 30361106 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903526 M 3202 0 1 "" nsv5983767 1 30360036 30361106 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533185 M 405 0 1 "" nsv5829949 1 30360051 30361150 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453690 M 914 0 0 "" esv3379609 1 30363083 30363083 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740962 M 185 1 0 "" NA19240 nsv4461870 1 30363893 30363894 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030315 M 10847 1 0 "" nsv6335556 1 30366948 30369047 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060043 M 19652 0 1 "" nsv4040918 1 30366950 30369108 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849681 M 10847 0 1 "" nsv4045126 1 30368691 30368799 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849682 M 10847 0 1 "" nsv460951 1 30368883 30402968 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537426 M 1557 0 1 "" HGDP00976 nsv545925 1 30368883 30402968 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173806 M 17421 0 1 "" HGDP00976 nsv4035059 1 30370110 30370189 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849683 M 10847 0 1 "" nsv6328392 1 30375812 30376426 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060044 M 19652 0 1 "" nsv4561823 1 30377061 30377062 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030316 M 10847 1 0 "" nsv5716798 1 30377070 30377070 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17245220,nssv17241682 M 3202 2 0 "" nsv5875974 1 30378401 30378518 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356610 M 914 0 1 "" nsv4752336 1 30378496 30378496 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16274889 M 25 1 0 "" nsv3324527 1 30378499 30378499 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489188 M 14 1 0 "" HG00514 nsv5605438 1 30378519 30378519 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064590 M 35 1 0 "" HG00731 nsv6041647 1 30378523 30378523 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536407 M 405 1 0 "" nsv3541465 1 30378539 30378539 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413531 M 9 1 0 "" HG00514 nsv6325989 1 30379060 30386826 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060045 M 19652 0 1 "" nsv6333137 1 30379233 30380330 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060046 M 19652 0 1 "" nsv7612 1 30380590 30425525 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8893 M 9 0 1 "" NA12156 nsv4044371 1 30381083 30381805 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963867 M 10847 1 0 "" nsv4041204 1 30381370 30381810 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849684 M 10847 0 1 "" nsv1011788 1 30384611 30442097 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700635 M 11257 0 1 "" nsv5983585 1 30408501 30408552 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519598 M 405 0 1 "" nsv5578508 1 30408535 30408584 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064690 M 35 0 1 "" HG02587 nsv4461349 1 30415823 30415824 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030317 M 10847 1 0 "" nsv4461118 1 30419840 30419841 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030319 M 10847 1 0 "" esv1002943 1 30420265 30431564 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3563870 M 3 0 1 "" HuRef nsv7623 1 30426443 30458952 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6516 M 9 1 0 "" NA12156 nsv6241399 1 30426674 30426674 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17845944 M 1021 1 0 "" nsv6332237 1 30430096 30433032 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203561 M 19652 1 0 "" esv2675584 1 30435742 30436238 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5637643,essv5429947,essv6162133,essv6159144,essv6048763,essv5564127,essv5950890,essv6174481,essv5648390,essv6179235,essv5908213,essv5873911,essv6074480,essv6474833,essv6319498,essv5641497,essv5415213,essv6143611 M 1151 0 18 "" HG00418,HG00437,HG00443,HG00448,HG00449,HG00635,HG00656,HG00657,HG00702,HG00708,HG01492,NA18543,NA18550,NA18612,NA18623,NA19004,NA19007,NA19079 esv3683199 1 30435815 30435909 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467956 M 20 0 1 "" nsv5983993 1 30435820 30435914 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530609 M 405 0 1 "" nsv4433111 1 30435828 30436254 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15752110 M 15 0 1 "" SMI041 nsv5983908 1 30435864 30436236 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527267 M 405 0 1 "" nsv6138022 1 30435864 30436236 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903528 M 3202 0 1 "" esv2745952 1 30435870 30436210 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880429,essv6714261,essv6929069,essv6847040 M 96 0 4 "" SSM020,SSM043,SSM086,SSM094 nsv6325592 1 30435909 30436170 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060048 M 19652 0 1 "" nsv5983768 1 30436140 30436206 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532713 M 405 0 1 "" nsv5983994 1 30436182 30436242 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531847 M 405 0 1 "" nsv4038586 1 30439739 30440514 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849685 M 10847 0 1 "" nsv6323048 1 30444015 30446745 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060049 M 19652 0 1 "" nsv4040058 1 30445194 30451865 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963868 M 10847 1 0 "" esv3893414 1 30449982 30509439 CNV gain Suktitipat_et_al_2014 25118596 SNP array essv25789153 M 3017 1 0 "" esv3683205 1 30455594 30455704 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467961 M 20 0 1 "" nsv5983995 1 30455662 30455770 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519187 M 405 0 1 "" nsv4035497 1 30462331 30462645 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849686 M 10847 0 1 "" nsv5829982 1 30479648 30489442 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454657 M 914 0 0 "" esv2669879 1 30479703 30489418 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5412750 M 1151 0 1 "" NA20814 esv3585618 1 30479765 30489514 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895196,essv9895195,essv9895205,essv9895199,essv9895200,essv9895198,essv9895207,essv9895197,essv9895202,essv9895210,essv9895203,essv9895212,essv9895201,essv9895209,essv9895206,essv9895208,essv9895204,essv9895211 M 2504 0 18 "" HG01619,HG02657,HG03006,HG03228,HG03229,HG03636,HG03642,HG03653,HG03837,HG03890,HG03947,HG03986,HG04059,NA20527,NA20544,NA20814,NA20867,NA21099 nsv1155438 1 30479770 30490594 CNV deletion Lou_et_al_2014 25026903 SNP array nssv4012213 M 131 0 1 "" nsv5885891 1 30479783 30489471 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366767 M 914 0 1 "" nsv4052005 1 30479783 30489472 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849687 M 10847 0 1 "" nsv5417299 1 30479783 30489472 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903529 M 3202 0 1 "" nsv6318168 1 30479783 30489472 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060050 M 19652 0 1 "" nsv4035582 1 30483830 30484489 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849689 M 10847 0 1 "" esv2763858 1 30485510 30488561 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7022966,essv7022743,essv7022854 M 1109 0 3 "" SW_0031,SW_0593,SW_1137 nsv515814 1 30486128 30488340 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv668377,nssv667788,nssv683554,nssv658372,nssv664863,nssv657229 M 2026 0 6 "" nsv5429369 1 30506799 30508340 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903530 M 3202 0 1 "" esv3585619 1 30506964 30508372 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895213,essv9895215,essv9895222,essv9895214,essv9895219,essv9895221,essv9895216,essv9895218,essv9895220,essv9895217 M 2504 0 10 "" HG02490,HG02601,HG03814,HG03857,HG03868,HG03965,HG04020,HG04206,NA20752,NA20901 nsv5869754 1 30507060 30508339 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363778 M 914 0 1 "" nsv4518146 1 30507060 30508340 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849690 M 10847 0 1 "" nsv6320900 1 30507060 30508340 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060053 M 19652 0 1 "" nsv5829950 1 30507068 30508367 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455414 M 914 0 0 "" nsv5950482 1 30509498 30509498 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17355131 M 914 1 0 "" nsv4046655 1 30517368 30521766 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849691 M 10847 0 1 "" nsv5615061 1 30519646 30519646 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064696 M 35 1 0 "" HG01596 nsv6327596 1 30525392 30539779 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060054 M 19652 0 1 "" nsv3193770 1 30527473 30527795 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359806,nssv14359805 M 9 0 2 "" HG00512,HG00731 esv25779 1 30531928 30532743 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv10698 M 40 1 0 "" NA19099 nsv7634 1 30532106 30553084 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8909 M 9 0 1 "" NA12156 nsv1075782 1 30538899 30539300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3763457 M 1 0 1 "" KWP1 nsv1118112 1 30538900 30539300 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980332 M 2 0 1 "" KWS1 nsv5873907 1 30543465 30543619 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367944 M 914 0 1 "" nsv4033483 1 30543470 30543620 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849692 M 10847 0 1 "" dgv221n54 1 30554684 31178663 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545928,nsv545930,nsv545927,nsv545926 M 17421 0 4 "" esv3585621 1 30558573 30726169 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895223 M 2504 1 0 "" NA19684 nsv4045025 1 30559052 31179228 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849693 M 10847 0 1 "" nsv5414075 1 30559052 31179228 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903531 M 3202 0 1 "" nsv6315721 1 30559052 31179228 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060055 M 19652 0 1 "" dgv143n100 1 30563451 31179589 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001237,nsv1005851 M 11257 0 4 "" nsv950347 1 30564101 30571400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997112 M 1 0 1 "" BILGI_BIOE nsv5420812 1 30564547 30564863 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903532 M 3202 0 1 "" nsv6546861 1 30569335 30569424 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252374 M 19652 0 0 "" nsv4754457 1 30569436 30569436 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16260253 M 25 1 0 "" esv3671076 1 30569448 30569448 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493173 M 20 1 0 "" nsv3941092 1 30569448 30569448 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191774 M 1 1 0 "" HG002 nsv4445067 1 30569448 30569448 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759255 M 1 1 0 "" nsv5618808 1 30569448 30569448 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064697 M 35 1 0 "" HG00731 nsv5962457 1 30569448 30569448 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17364196 M 914 1 0 "" nsv6054768 1 30569448 30569448 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537160 M 405 1 0 "" dgv163n152 1 30569448 30569611 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3172421,nsv3182499 M 9 0 0 "" HG00514,HG00733,NA19240 nsv2801821 1 30569449 30569449 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13702713 M 2 1 0 "" nsv3053580 1 30569449 30569449 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14029540 M 2 1 0 "" NA12878 nsv3324266 1 30569449 30569449 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478879,nssv14487352,nssv14487024,nssv14481086,nssv14478882,nssv14481788,nssv14472039,nssv14479650,nssv14484782,nssv14486933,nssv14476892,nssv14474322,nssv14472622,nssv14483632 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv6319446 1 30569455 30965557 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203563 M 19652 1 0 "" nsv5540099 1 30569458 30569499 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903535 M 3202 1 0 "" nsv6548338 1 30569458 30965367 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252375 M 19652 0 0 "" nsv3060807 1 30569459 30569459 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017992 M 2 1 0 "" CHM1 nsv545929 1 30574158 30706530 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712060 M 17421 0 1 "" nsv4035705 1 30580188 30583469 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963869 M 10847 1 0 "" nsv6331341 1 30580188 30583469 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203564 M 19652 1 0 "" nsv834558 1 30588483 30768412 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444429 M 95 1 0 "" nsv4049410 1 30595835 30622660 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849694 M 10847 0 1 "" nsv6316700 1 30595835 30622660 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060056 M 19652 0 1 "" nsv4049769 1 30605336 30612231 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849695 M 10847 0 1 "" nsv4280520 1 30616373 30616374 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030320 M 10847 1 0 "" esv3664810 1 30617004 30617004 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487532 M 20 1 0 "" nsv5876955 1 30617286 30620186 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17356161 M 914 0 1 "" esv2664002 1 30617800 30621472 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6239715 M 1151 0 1 "" HG00146 nsv4040835 1 30617805 30621472 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849696 M 10847 0 1 "" nsv5416686 1 30617805 30621472 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903538 M 3202 0 1 "" nsv6317944 1 30617805 30621472 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060057 M 19652 0 1 "" esv3585622 1 30617819 30621490 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895224,essv9895225 M 2504 0 2 "" HG00146,NA20540 nsv3218555 1 30620719 30635811 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14272385 M 9 1 0 "" HG00513 nsv6334210 1 30620928 30623263 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203565 M 19652 1 0 "" nsv4038255 1 30622518 30622608 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849697 M 10847 0 1 "" nsv6335395 1 30622639 30626505 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060058 M 19652 0 1 "" nsv4032898 1 30622643 30626505 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850255 M 10847 0 1 "" nsv4041023 1 30622643 30632036 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850256 M 10847 0 1 "" nsv6331834 1 30626948 30631847 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060059 M 19652 0 1 "" nsv4048740 1 30631991 30658326 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963870 M 10847 1 0 "" nsv4037542 1 30646012 30646076 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963871 M 10847 1 0 "" nsv5829831 1 30652266 30657865 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468951 M 914 0 0 "" nsv5870793 1 30652271 30657967 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352105 M 914 0 1 "" nsv5422174 1 30652275 30657968 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903539 M 3202 0 1 "" nsv4460814 1 30654792 30654793 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030321 M 10847 1 0 "" nsv5682690 1 30654810 30654810 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205740,nssv17194237 M 3202 2 0 "" nsv6241410 1 30654810 30654810 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17845945 M 1021 1 0 "" nsv5399747 1 30654810 30654861 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903541 M 3202 1 0 "" esv2745963 1 30657006 30657666 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6843904,essv6776951,essv6802598,essv6967947,essv6816602,essv6750618,essv6744950,essv6756564,essv6769537,essv6950580 M 96 0 10 "" SSM002,SSM025,SSM028,SSM055,SSM057,SSM059,SSM065,SSM067,SSM078,SSM085 nsv5575822 1 30657201 30657294 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064974 M 35 0 1 "" NA19238 nsv5878391 1 30657201 30657294 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17355395 M 914 0 1 "" nsv3323371 1 30657202 30657295 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475949,nssv14491905 M 14 0 2 "" HG01352,NA19240 nsv4741697 1 30657214 30657309 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279320 M 25 0 1 "" nsv3281584 1 30657225 30657296 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375800 M 9 0 1 "" NA19240 nsv5983909 1 30657233 30657327 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530586 M 405 0 1 "" esv2072629 1 30664117 30664597 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4969544 M 1 0 1 "" NA18507 nsv3324267 1 30664259 30664383 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485790 M 14 0 1 "" NA19434 nsv3281808 1 30664259 30664384 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14382696 M 9 0 1 "" NA19240 nsv5610332 1 30664309 30664309 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064976 M 35 1 0 "" HG00864 nsv5577677 1 30664309 30664433 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064975 M 35 0 1 "" NA19239 nsv5880106 1 30664309 30664433 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359022 M 914 0 1 "" nsv5983998 1 30664309 30664433 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518207 M 405 0 1 "" nsv3524980 1 30664309 30664434 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360467,nssv14360466 M 9 0 2 "" NA19239,NA19240 nsv4750410 1 30664326 30664326 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16259069 M 25 1 0 "" esv2670310 1 30664336 30664461 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6437358,essv5525864,essv6285005,essv6496701,essv5464240,essv5614862,essv6194573,essv6232740,essv6044842,essv5423952,essv5548242,essv6127057,essv5849194,essv5469738,essv6525482,essv6462891,essv6480901,essv6096537,essv5825895,essv5701939,essv5702329,essv6017853,essv6022071,essv5788758,essv6313573,essv6513982,essv6417923,essv5629940,essv6340256 M 1151 0 29 "" HG01061,HG01066,HG01069,HG01101,HG01108,HG01183,HG01353,HG01365,HG01390,NA18502,NA18505,NA18522,NA18523,NA18934,NA19138,NA19147,NA19225,NA19374,NA19381,NA19382,NA19391,NA19397,NA19403,NA19404,NA19428,NA19457,NA19774,NA20126,NA20127 nsv3324268 1 30664380 30664460 CNV mobile element deletion Audano_et_al_2019 30661756 Sequencing nssv14808759 M 14 0 1 "" HG02818 nsv6041583 1 30664383 30664383 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536510 M 405 1 0 "" nsv3323372 1 30664410 30664410 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485380 M 14 1 0 "" HG02059 esv3585623 1 30667616 30805808 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895226,essv9895227 M 2504 0 2 "" NA12286,NA20540 nsv5427048 1 30667631 30805800 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903542 M 3202 0 1 "" esv3683214 1 30670948 30671148 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467970 M 20 0 1 "" nsv6334436 1 30676548 30681647 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060060 M 19652 0 1 "" nsv4035244 1 30676937 30677036 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850257 M 10847 0 1 "" nsv5983769 1 30676937 30677036 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522837 M 405 0 1 "" nsv4516759 1 30678264 30678316 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850258 M 10847 0 1 "" nsv5429245 1 30678788 30678846 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903543 M 3202 0 1 "" nsv5983586 1 30682211 33108127 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17523548 M 405 1 0 BAI2,BSDC1,CCDC28B,COL16A1,DCDC2B,EIF3I,FABP3,FAM167B,FAM229A,HCRTR1,HDAC1,IQCC,KHDRBS1,KPNA6,LAPTM5,LCK,LOC149086,LOC284551,MARCKSL1,MATN1,MATN1-AS1,MIR4254,MIR4420,MTMR9LP,NKAIN1,PEF1,PTP4A2,PUM1,SDC3,SERINC2,SNORD103A,SNORD103B,SNORD85,SNRNP40,SPOCD1,TINAGL1,TMEM234,TMEM39B,TSSK3,TXLNA,ZBTB8A,ZBTB8B,ZBTB8OS,ZCCHC17 nsv4043858 1 30684027 30684133 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850259 M 10847 0 1 "" esv29671 1 30688669 30693813 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv20952,esv15135 M 40 0 2 "" NA11894,NA18517 esv3413479 1 30688865 30689963 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692288 M 185 1 0 "" NA19238 dgv74e59 1 30689165 30690063 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing esv3411776,esv3426579 M 185 2 0 "" NA19239,NA19240 nsv5874657 1 30689568 30689625 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366455 M 914 0 1 "" nsv3198471 1 30696538 30746600 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255416 M 9 0 1 "" HG00513 nsv6052549 1 30697981 30697981 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524715 M 405 1 0 "" nsv4050877 1 30699755 30699976 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850260 M 10847 0 1 "" nsv5867878 1 30699846 30699976 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350692 M 914 0 1 "" nsv4050227 1 30699849 30699977 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850261 M 10847 0 1 "" nsv5418719 1 30699849 30699977 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903545 M 3202 0 1 "" nsv6049121 1 30703028 30703028 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532135 M 405 1 0 "" nsv4042281 1 30703126 30703209 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963872 M 10847 1 0 "" nsv6241421 1 30704753 30704753 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17845946 M 1021 1 0 "" esv2758929 1 30706335 30741656 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756840 M 270 0 6 "" NA07048,NA07055,NA10835,NA10863,NA12249,NA12740 dgv144n100 1 30720979 30745210 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv1001571,nsv1007398 M 11257 0 2 "" nsv3181668 1 30721839 30722374 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413533 M 9 0 0 "" HG00514 nsv4033866 1 30723073 30725729 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850262 M 10847 0 1 "" nsv6329737 1 30723123 30725729 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060061 M 19652 0 1 "" esv3585624 1 30725803 30726183 CNV insertion 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895228 M 2504 1 0 "" HG03875 nsv5683727 1 30728320 30728320 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205742,nssv17193621 M 3202 2 0 "" nsv5404749 1 30728320 30728371 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903547 M 3202 1 0 "" nsv476754 1 30728440 30728440 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3013200 M 9 1 0 "" NA12878 nsv1004875 1 30731408 30750679 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471473 M 11257 1 0 "" esv2745974 1 30731497 30732866 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6710604,essv6916863,essv6914009,essv6929070,essv6972378,essv6699607,essv6797463,essv6950581 M 96 0 8 "" SSM003,SSM016,SSM020,SSM025,SSM029,SSM039,SSM042,SSM072 esv2745985 1 30731543 30732043 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6710604,essv6916863,essv6914009,essv6929070,essv6699607,essv6950581,essv6797463 M 96 0 7 "" SSM003,SSM016,SSM020,SSM025,SSM039,SSM042,SSM072 esv2745996 1 30731668 30731798 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6710604,essv6699607,essv6950581 M 96 0 3 "" SSM025,SSM039,SSM042 esv2763836 1 30734036 30739796 CNV loss Vogler_et_al_2010 21179565 Merging,SNP array essv7023299,essv7023521,essv7023410,essv7023188,essv7023077 M 1109 0 5 "" SW_0085,SW_0090,SW_0627,SW_0757,SW_1253 esv3577799 1 30735496 30749783 CNV loss Uddin_et_al_2014 25503493 SNP array essv9834533,essv9834622,essv9834633 M 873 0 3 "" 400108BJ,400547BS,401196CR esv26727 1 30738408 30740073 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv17301 M 40 0 3 "" NA12414,NA12489,NA15510 nsv9879 1 30738470 30740479 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv14079,nssv13746 M 31 0 2 "" NA10863,NA12740 esv3560193 1 30738598 30739963 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758940 M 767 0 1 "" nsv5829951 1 30738618 30739917 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458010 M 914 0 0 "" nsv5579425 1 30738620 30739930 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064979 M 35 0 1 "" HG03009 nsv5881472 1 30738620 30739930 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17366205 M 914 0 1 "" esv2675865 1 30738620 30739931 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5656502,essv6290120,essv6419194,essv5808381,essv5901551,essv5822600,essv6419819,essv6074649,essv5887609,essv5949356,essv5543494,essv6488049,essv6598025,essv6166636,essv5723861,essv6033406,essv5887650,essv6437617,essv5558999,essv5998682,essv6065645,essv6418142,essv6342487,essv6504263,essv5415005,essv5504133,essv5973992,essv6245571,essv6534969,essv6166088,essv5871421,essv5949909,essv5717708,essv6287591,essv5504198,essv6144852,essv5524451,essv5733258,essv6342232,essv5868649,essv6272745,essv5794715,essv5736656,essv6128137,essv6454298,essv6475298,essv6395886,essv6143984,essv6271249,essv6539994,essv6356858,essv5763962,essv5643744,essv5435823,essv6022636,essv5716074,essv5537674,essv5839362,essv5789593,essv6335106,essv6245806,essv5645509 M 1151 0 62 "" HG00103,HG00112,HG00115,HG00137,HG00140,HG00150,HG00158,HG00186,HG00187,HG00189,HG00233,HG00245,HG00247,HG00250,HG00253,HG00257,HG00261,HG00312,HG00321,HG00326,HG00334,HG00335,HG00372,HG00739,HG01047,HG01060,HG01197,HG01354,HG01492,NA07048,NA07051,NA07056,NA11920,NA11932,NA12044,NA12155,NA12249,NA12399,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12778,NA12813,NA12830,NA12889,NA12892,NA19652,NA19780,NA19819,NA20521,NA20534,NA20538,NA20753,NA20761,NA20770,NA20796,NA20801,NA20815,NA20819 esv3585626 1 30738620 30739935 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895308,essv9895297,essv9895326,essv9895295,essv9895309,essv9895294,essv9895323,essv9895298,essv9895303,essv9895293,essv9895307,essv9895292,essv9895310,essv9895296,essv9895316,essv9895357,essv9895234,essv9895328,essv9895353,essv9895235,essv9895329,essv9895350,essv9895254,essv9895331,essv9895358,essv9895236,essv9895312,essv9895356,essv9895237,essv9895304,essv9895349,essv9895258,essv9895324,essv9895352,essv9895238,essv9895332,essv9895344,essv9895239,essv9895301,essv9895346,essv9895240,essv9895317,essv9895354,essv9895259,essv9895306,essv9895342,essv9895241,essv9895305,essv9895360,essv9895242,essv9895320,essv9895345,essv9895230,essv9895302,essv9895348,essv9895257,essv9895319,essv9895343,essv9895243,essv9895322,essv9895355,essv9895244,essv9895333,essv9895347,essv9895245,essv9895300,essv9895351,essv9895246,essv9895330,essv9895359,essv9895247,essv9895313,essv9895231,essv9895334,essv9895248,essv9895327,essv9895232,essv9895314,essv9895249,essv9895325,essv9895256,essv9895315,essv9895250,essv9895321,essv9895233,essv9895318,essv9895251,essv9895311,essv9895252,essv9895299,essv9895255,essv9895339,essv9895253,essv9895337,essv9895283,essv9895336,essv9895287,essv9895340,essv9895284,essv9895338,essv9895280,essv9895341,essv9895291,essv9895335,essv9895285,essv9895272,essv9895290,essv9895277,essv9895281,essv9895266,essv9895288,essv9895269,essv9895282,essv9895261,essv9895289,essv9895278,essv9895279,essv9895275,essv9895286,essv9895270,essv9895268,essv9895265,essv9895276,essv9895271,essv9895263,essv9895274,essv9895260,essv9895262,essv9895264,essv9895273,essv9895267 M 2504 0 131 "" HG00103,HG00112,HG00115,HG00128,HG00137,HG00140,HG00150,HG00158,HG00183,HG00186,HG00187,HG00189,HG00233,HG00245,HG00250,HG00253,HG00255,HG00257,HG00261,HG00274,HG00304,HG00315,HG00321,HG00326,HG00334,HG00335,HG00356,HG00358,HG00371,HG00372,HG00739,HG01047,HG01060,HG01197,HG01269,HG01354,HG01492,HG01501,HG01504,HG01506,HG01512,HG01516,HG01518,HG01537,HG01578,HG01586,HG01602,HG01610,HG01615,HG01682,HG01697,HG01700,HG01704,HG01707,HG01710,HG01757,HG01771,HG01773,HG01986,HG02220,HG02230,HG02445,HG02494,HG02600,HG02691,HG02700,HG02774,HG02790,HG03009,HG03629,HG03636,HG03705,HG03713,HG03736,HG03773,HG03775,HG03777,HG03782,HG03802,HG03808,HG03823,HG03829,HG03833,HG03897,HG03908,HG03944,HG04002,HG04003,HG04146,HG04219,NA07048,NA07051,NA07056,NA11920,NA11932,NA12044,NA12155,NA12234,NA12249,NA12272,NA12399,NA12414,NA12489,NA12716,NA12717,NA12750,NA12751,NA12778,NA12813,NA12815,NA12830,NA12889,NA19652,NA19669,NA19780,NA19819,NA20521,NA20534,NA20538,NA20753,NA20761,NA20762,NA20770,NA20796,NA20801,NA20815,NA20819,NA20872,NA20910,NA21097,NA21123 nsv4033312 1 30738623 30739931 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850263 M 10847 0 1 "" nsv5424589 1 30738623 30739931 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903548 M 3202 0 1 "" nsv6326521 1 30738623 30739931 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060062 M 19652 0 1 "" nsv545931 1 30738685 30738795 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712062 M 17421 0 1 "" nsv545932 1 30738685 30739356 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712063 M 17421 0 1 "" dgv222n54 1 30738685 30740008 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545943,nsv545934,nsv545937,nsv545940,nsv545935,nsv545941,nsv545933,nsv545939,nsv545938 M 17421 0 68 "" dgv223n54 1 30738685 30740493 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545936,nsv545942,nsv545944 M 17421 0 7 "" esv3683220 1 30743444 30743547 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467975 M 20 0 1 "" nsv6328705 1 30743840 30751700 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059919 M 19652 0 1 "" nsv4040773 1 30749840 30749958 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963873 M 10847 1 0 "" nsv4461119 1 30752723 30752724 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030322 M 10847 1 0 "" esv2746007 1 30758895 31134982 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6877675,essv6868727,essv6880430,essv6725860,essv6880432,essv6714262,essv6898621,essv6748575,essv6895857,essv6843905,essv6773451,essv6710605,essv6692786,essv6785007,essv6719065,essv6859206,essv6967949,essv6729641,essv6914011,essv6682841,essv6789170,essv6789171,essv6914010,essv6793308,essv6871730,essv6692788,essv6929071,essv6929072,essv6941801,essv6941802,essv6719054,essv6967948,essv6925703,essv6972379,essv6797466,essv6917452,essv6954769,essv6797465,essv6744951,essv6769538,essv6699608,essv6669365,essv6868726,essv6759063,essv6719043,essv6666912,essv6933324 M 96 0 36 "" SSM005,SSM007,SSM008,SSM016,SSM017,SSM019,SSM020,SSM021,SSM023,SSM026,SSM028,SSM029,SSM030,SSM034,SSM037,SSM039,SSM042,SSM043,SSM046,SSM047,SSM055,SSM061,SSM065,SSM066,SSM069,SSM070,SSM071,SSM072,SSM085,SSM088,SSM090,SSM091,SSM093,SSM094,SSM099,SSM100 dgv36e199 1 30758914 31134922 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array esv2677487,esv2662099 M 1151 0 3 "" HG00249,HG01061,NA11843 nsv6323823 1 30760196 30891151 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203567 M 19652 1 0 "" nsv6324671 1 30763584 30764003 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059920 M 19652 0 1 "" nsv5423860 1 30770898 30771480 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903549 M 3202 0 1 "" nsv7646 1 30772246 30806392 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1013 M 9 1 0 "" NA19240 esv27233 1 30773957 30774557 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv11685 M 40 1 0 "" NA18861 nsv4445068 1 30774225 30774225 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15762012 M 1 1 0 "" nsv3538563 1 30774230 30774230 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375384 M 9 1 0 "" NA19240 nsv5613099 1 30774230 30774230 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064982 M 35 1 0 "" HG00731 nsv5956293 1 30774230 30774230 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351115 M 914 1 0 "" nsv3943633 1 30774236 30774236 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15191786 M 1 1 0 "" HG002 nsv3323373 1 30774237 30774237 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491619,nssv14491346,nssv14485248,nssv14483299,nssv14485811,nssv14484271,nssv14474019,nssv14478614,nssv14473025,nssv14483510,nssv14485557,nssv14478018,nssv14476187 M 14 13 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv4763577 1 30774238 30774238 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16272413 M 25 1 0 "" nsv2801180 1 30774241 30774241 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684304 M 2 1 0 "" nsv2801823 1 30774247 30774247 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679878 M 2 1 0 "" nsv6054575 1 30774252 30774252 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526316 M 405 1 0 "" nsv3535441 1 30774256 30774256 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440558,nssv14413535 M 9 2 0 "" HG00514,HG00733 nsv6318812 1 30776546 30777219 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059921 M 19652 0 1 "" nsv476229 1 30777636 30777636 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020415 M 9 1 0 "" NA12878 nsv834569 1 30778063 30932356 CNV gain Wong_et_al_2007 17160897 BAC aCGH nssv1444440 M 95 1 0 "" nsv6318170 1 30778263 30877440 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059922 M 19652 0 1 "" nsv4050909 1 30781074 30794443 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963874 M 10847 1 0 "" nsv1147834 1 30787999 30789500 CNV duplication John_et_al_2014 26484159 Sequencing nssv3996621 M 1 1 0 "" KWB1 nsv5676207 1 30789589 30789589 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17195253 M 3202 1 0 "" nsv5400285 1 30789589 30789640 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903550 M 3202 1 0 "" nsv4039250 1 30790140 30806783 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963875 M 10847 1 0 "" nsv6329503 1 30792146 30800313 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059923 M 19652 0 1 "" nsv6321068 1 30795409 30805928 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059924 M 19652 0 1 "" nsv5693093 1 30807240 30807240 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205743,nssv17195292 M 3202 2 0 "" nsv5413080 1 30807240 30807291 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903551 M 3202 1 0 "" nsv5882684 1 30811506 30811592 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351489 M 914 0 1 "" nsv4461871 1 30814596 30814597 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030323 M 10847 1 0 "" nsv5419057 1 30815201 30818327 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903552 M 3202 1 0 "" esv3664827 1 30815419 30815419 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487548 M 20 1 0 "" nsv4050464 1 30817370 30817771 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850265 M 10847 0 1 "" nsv6045477 1 30819430 30819430 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17528963 M 405 1 0 "" nsv4045916 1 30820402 30820850 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850266 M 10847 0 1 "" nsv6322481 1 30824845 30825311 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059925 M 19652 0 1 "" nsv945862 1 30831408 30833464 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758917,nssv1758976,nssv1758918,nssv1758955,nssv1758925,nssv1758980,nssv1759001,nssv1758972,nssv1758926,nssv1759012,nssv1758919,nssv1759009,nssv1758945,nssv1758982,nssv1758943,nssv1758991,nssv1758921,nssv1759006,nssv1758995,nssv1759011,nssv1758940,nssv1758962,nssv1758951,nssv1758986,nssv1758996,nssv1758977,nssv1758934,nssv1758992,nssv1758923,nssv1759007,nssv1758949,nssv1758956,nssv1758948,nssv1758957,nssv1758935,nssv1758961,nssv1758942,nssv1759003,nssv1758997,nssv1758984,nssv1758928,nssv1758959,nssv1758922,nssv1758974,nssv1758946,nssv1758990,nssv1758944,nssv1759008,nssv1758927,nssv1758969,nssv1758936,nssv1758958,nssv1758916,nssv1758960,nssv1758933,nssv1758988,nssv1758929,nssv1758975,nssv1759000,nssv1758965,nssv1759002,nssv1758979,nssv1758999,nssv1758970,nssv1758931,nssv1758978,nssv1758994,nssv1758987,nssv1758924,nssv1758981,nssv1758937,nssv1758964,nssv1758930,nssv1758966,nssv1758953,nssv1759005,nssv1758932,nssv1758973,nssv1758952,nssv1758985,nssv1758938,nssv1758971,nssv1758947,nssv1758963,nssv1758939,nssv1758989,nssv1758920,nssv1758968,nssv1758993,nssv1759004,nssv1758998,nssv1758983,nssv1758941,nssv1759010,nssv1758950,nssv1758954,nssv1758967 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4037235 1 30831953 30832228 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963876 M 10847 1 0 "" nsv4042016 1 30832587 30833263 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850267 M 10847 0 1 "" esv2746018 1 30832599 30833243 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6895857,essv6898621 M 96 0 2 "" SSM099,SSM100 esv3683222 1 30834281 30834335 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467977 M 20 0 1 "" nsv5983911 1 30838446 30838550 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519521 M 405 0 1 "" nsv4751059 1 30838451 30838451 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16283943 M 25 1 0 "" nsv5604817 1 30838490 30838490 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064983 M 35 1 0 "" HG00731 nsv6045698 1 30838492 30838492 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524287 M 405 1 0 "" nsv471972 1 30839708 30839708 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020142 M 9 1 0 "" NA18555 esv3576694 1 30843915 30862461 CNV gain Uddin_et_al_2014 25503493 SNP array essv9834699,essv9834644,essv9834666,essv9834655,essv9834677,essv9834688 M 873 6 0 "" 400234CA,400493KH,400785AK,400791GC,400926LJ,401566DD nsv5553153 1 30846991 30846991 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903553 M 3202 1 0 "" nsv5623339 1 30846991 30846991 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064984 M 35 1 0 "" HG02818 nsv3323374 1 30846992 30846992 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488031 M 14 1 0 "" HG02818 esv3683228 1 30848423 30848803 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467982 M 20 0 1 "" nsv5984000 1 30848443 30848498 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537070 M 405 0 1 "" esv3560216 1 30848466 30848735 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758963 M 767 0 1 "" nsv1075786 1 30848478 30848717 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772537 M 1 0 1 "" KWP1 nsv5983814 1 30848502 30848557 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521209 M 405 0 1 "" nsv2801181 1 30848533 30848586 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13698324 M 2 0 1 "" nsv3323375 1 30848533 30848586 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487581,nssv14482083,nssv14485645,nssv14475639,nssv14474558,nssv14490186,nssv14472241,nssv14488092,nssv14476808,nssv14482891,nssv14473482,nssv14486966,nssv14478666 M 14 0 13 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv5573477 1 30848586 30848746 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064985 M 35 0 1 "" HG02818 nsv3324529 1 30848587 30848747 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491220 M 14 0 1 "" HG02818 nsv5574052 1 30848593 30848644 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064986 M 35 0 1 "" HG00731 nsv5983912 1 30848594 30848645 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523775 M 405 0 1 "" nsv3323376 1 30848597 30848648 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485364 M 14 0 1 "" NA19434 nsv3187916 1 30848597 30848649 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14418698,nssv14446950,nssv14391939 M 9 0 0 "" HG00514,HG00733,NA19240 nsv4740400 1 30848604 30848657 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279109 M 25 0 1 "" nsv5609737 1 30848645 30848645 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064987 M 35 1 0 "" HG01505 nsv5581826 1 30848880 30848933 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064988 M 35 0 1 "" HG02818 nsv3324270 1 30848881 30848934 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478578 M 14 0 1 "" HG02818 nsv3214425 1 30852561 30881433 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261273,nssv14261276,nssv14261278,nssv14261277,nssv14261275,nssv14261274 M 9 6 0 "" HG00512,HG00513,HG00731,HG00732,NA19238,NA19239 nsv4033624 1 30852774 30852931 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963877 M 10847 1 0 "" nsv5426565 1 30852774 30852931 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903554 M 3202 1 0 "" nsv4516605 1 30855670 30856562 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963878 M 10847 1 0 "" nsv5881283 1 30855725 30856561 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17362096 M 914 1 0 "" nsv5417752 1 30855725 30856562 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903556 M 3202 1 0 "" nsv6319254 1 30855725 30856562 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203568 M 19652 1 0 "" nsv4035175 1 30856562 30857158 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850268 M 10847 0 1 "" nsv6335001 1 30857673 30860358 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059926 M 19652 0 1 "" nsv509113 1 30863991 30882269 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv617991,nssv621090,nssv619785,nssv623779 M 4 4 0 "" CHM,NA10860,NA15510,NA18994 nsv6325646 1 30864348 30867847 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059927 M 19652 0 1 "" nsv4461350 1 30869053 30869054 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030324 M 10847 1 0 "" nsv7657 1 30871576 30883029 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1022,nssv4077 M 9 2 0 "" NA12878,NA19240 nsv6537762 1 30878327 30878822 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252376 M 19652 0 0 "" nsv499355 1 30878514 30878815 CNV gain Kidd_et_al_2010b 21111241 Sequencing nssv586152 M 9 1 0 "" nsv4764564 1 30878516 30878516 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16275575 M 25 1 0 "" nsv5547611 1 30878516 30878516 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903557 M 3202 1 0 "" nsv6054883 1 30878516 30878516 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537320 M 405 1 0 "" dgv164n152 1 30878516 30878816 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3197000,nsv3194063 M 9 0 2 "" HG00514,NA19238 esv3674768 1 30878516 30878828 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496495 M 20 0 0 "" nsv5618482 1 30878560 30878560 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064990 M 35 1 0 "" HG00731 dgv165n152 1 30878560 30880126 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3171384,nsv3174188,nsv3171013 M 9 0 0 "" HG00514,HG00733,NA19240 nsv2802083 1 30878745 30878745 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13711626 M 2 1 0 "" nsv3324530 1 30878745 30878745 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475491,nssv14482065,nssv14477667,nssv14491097,nssv14489732,nssv14485708,nssv14488967,nssv14472904,nssv14487069,nssv14489167 M 14 10 0 "" CHM1,CHM13,HG00514,HG00733,HG02059,HG02818,HG04217,HX1,NA12878,NA19240 dgv166n152 1 30878813 30882445 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3179195,nsv3170958,nsv3184170 M 9 0 0 "" HG00514,HG00733,NA19240 nsv2801824 1 30878814 30878814 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13709886 M 2 1 0 "" nsv3323377 1 30878814 30878814 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491673,nssv14484168,nssv14483764,nssv14486720,nssv14489629,nssv14478628,nssv14491003,nssv14475536,nssv14488077,nssv14479389,nssv14485311 M 14 11 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02818,HG04217,HX1,NA12878,NA19240 nsv6053473 1 30878814 30878814 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531002 M 405 1 0 "" nsv5610040 1 30878815 30878815 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064991 M 35 1 0 "" HG00731 esv2214908 1 30882377 30882797 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4593443 M 1 0 1 "" NA18507 nsv5571773 1 30882543 30882597 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064992 M 35 0 1 "" NA19983 nsv5875218 1 30882543 30882597 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353553 M 914 0 1 "" nsv545945 1 30885210 30938590 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712139 M 17421 0 1 "" nsv5418269 1 30885888 30886987 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903558 M 3202 0 1 "" nsv5426700 1 30885903 30887008 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903559 M 3202 1 0 "" nsv6329182 1 30885904 30887025 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18059928 M 19652 0 1 "" nsv5829952 1 30885929 30886947 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17461851 M 914 0 0 "" nsv6334284 1 30888336 30890025 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060324 M 19652 0 1 "" nsv7668 1 30888346 30933633 CNV deletion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8924 M 9 0 1 "" NA12156 nsv834580 1 30892637 31054759 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444451 M 95 0 1 "" nsv5539239 1 30893626 30893626 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903560 M 3202 1 0 "" nsv4535178 1 30893626 30893627 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030325 M 10847 1 0 "" nsv5558618 1 30893626 30893628 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683875 M 3202 0 0 "" nsv5605690 1 30893628 30893628 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064993 M 35 1 0 "" HG03125 nsv5829983 1 30895467 30900397 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464357 M 914 0 0 "" nsv5881046 1 30895487 30900231 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362772 M 914 0 1 "" nsv6326614 1 30901948 30903847 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060325 M 19652 0 1 "" nsv1004876 1 30902362 30951214 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3471474 M 11257 0 1 "" nsv6330900 1 30911248 30911647 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060326 M 19652 0 1 "" nsv3323378 1 30911333 30911333 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485331 M 14 1 0 "" NA19240 nsv4758650 1 30911334 30911334 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16269989 M 25 1 0 "" nsv3543796 1 30911338 30911338 CNV line1 insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14379224 M 9 1 0 "" NA19240 nsv5612645 1 30911338 30911338 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064995 M 35 1 0 "" NA19239 nsv5955724 1 30911338 30911338 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17351475 M 914 1 0 "" nsv6048878 1 30911338 30911338 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517658 M 405 1 0 "" nsv4046671 1 30911719 30967226 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963879 M 10847 1 0 "" nsv5984001 1 30917038 30917208 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529933 M 405 0 1 "" nsv4034000 1 30917039 30917211 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850269 M 10847 0 1 "" nsv1003513 1 30917164 30962474 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3466302 M 11257 1 0 "" nsv950355 1 30918101 30926600 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997113 M 1 0 1 "" BILGI_BIOE nsv6325461 1 30936070 30936274 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060327 M 19652 0 1 "" nsv1119674 1 30937198 30937285 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982122 M 2 0 1 "" KWS1 esv3585627 1 30937695 30954670 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895361 M 2504 0 1 "" NA20540 nsv5682185 1 30937883 30937883 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17194634 M 3202 1 0 "" esv3585628 1 30947086 30950772 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895363,essv9895362 M 2504 0 2 "" NA20519,NA20540 esv2660539 1 30947122 30950772 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6276564 M 1151 0 1 "" NA20519 nsv5418961 1 30947123 30950772 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903563 M 3202 0 1 "" nsv6335298 1 30956028 30956710 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060328 M 19652 0 1 "" nsv476541 1 30960029 30960029 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016596 M 9 1 0 "" NA12878 nsv4049072 1 30961000 31050000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15963880 M 10847 1 0 "" esv2668913 1 30961080 30961377 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6144916 M 1151 0 1 "" HG00261 nsv1139476 1 30961100 30972600 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3977064 M 2 1 0 "" KWS2 nsv6323352 1 30961121 30961357 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060329 M 19652 0 1 "" nsv4042972 1 30961122 30961357 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850270 M 10847 0 1 "" nsv5430601 1 30961122 30961357 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903564 M 3202 0 1 "" nsv1151384 1 30961535 30961598 CNV insertion John_et_al_2014 26484159 Sequencing nssv4003948 M 1 1 0 "" KWB1 nsv4766740 1 30961555 30961555 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16276067 M 25 1 0 "" nsv1110657 1 30961564 30961617 CNV insertion Alsmadi_et_al_2014 24896259 Sequencing nssv3960312 M 2 1 0 "" KWS1 nsv3056156 1 30961568 30961568 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021071 M 2 1 0 "" NA12878 nsv5416123 1 30961568 30961677 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903566 M 3202 1 0 "" nsv3526777 1 30961576 30961677 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360536,nssv14360535 M 9 2 0 "" HG00514,NA19238 nsv5885561 1 30961585 30961676 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17365721 M 914 1 0 "" nsv1125459 1 30961585 30961677 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3993565,nssv3962914 M 2 2 0 "" KWS1,KWS2 nsv3323579 1 30961586 30961586 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484219 M 14 1 0 "" HG00268 nsv3532018 1 30961590 30961590 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413538 M 9 1 0 "" HG00514 nsv2801825 1 30961640 30961640 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13697326 M 2 1 0 "" nsv3323379 1 30961640 30961640 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489824,nssv14476057 M 14 2 0 "" CHM1,CHM13 nsv3538248 1 30961662 30961662 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374225 M 9 1 0 "" NA19240 nsv3937003 1 30961677 30961677 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192379 M 1 1 0 "" HG002 nsv5609569 1 30961682 30961682 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064996 M 35 1 0 "" HG00731 nsv6054310 1 30961685 30961685 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525222 M 405 1 0 "" nsv3188500 1 30961685 30961797 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413539 M 9 0 0 "" HG00514 nsv2801826 1 30961686 30961686 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13699615 M 2 1 0 "" nsv3323580 1 30961686 30961686 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14476283,nssv14477591,nssv14488411,nssv14475009,nssv14491252,nssv14475311,nssv14487109,nssv14487516,nssv14484801,nssv14477568,nssv14476007,nssv14479270,nssv14475533,nssv14491825 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3537129 1 30961686 30961686 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440562 M 9 1 0 "" HG00733 esv3585629 1 30961843 30983828 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895364 M 2504 0 1 "" NA20540 nsv5574716 1 30965195 30965442 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064997 M 35 0 1 "" HG03486 nsv5870419 1 30965199 30965444 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17369198 M 914 0 1 "" nsv6328718 1 30965199 30965456 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060330 M 19652 0 1 "" nsv4048118 1 30965199 30965461 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850271 M 10847 0 1 "" nsv5421615 1 30965199 30965461 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903567 M 3202 0 1 "" nsv1004002 1 30975928 31034902 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467914 M 11257 0 1 "" nsv950366 1 30977301 30980800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997114 M 1 0 1 "" BILGI_BIOE nsv520401 1 30980786 30985651 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697394 M 2026 0 1 "" nsv5685520 1 30982703 30982703 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17195695 M 3202 1 0 "" nsv5400791 1 30982703 30982754 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903569 M 3202 1 0 "" nsv5433633 1 30986287 30986341 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903570 M 3202 0 1 "" esv2746031 1 30988313 30988798 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6773451 M 96 0 1 "" SSM066 nsv5607457 1 30988405 30988405 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064998 M 35 1 0 "" NA12878 nsv6044017 1 30988421 30988421 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526573 M 405 1 0 "" nsv6058395 1 30988422 30988422 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520749 M 405 1 0 "" nsv3056158 1 30988433 30988433 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14028590 M 2 1 0 "" NA12878 nsv3323380 1 30988444 30988444 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490260 M 14 1 0 "" NA12878 esv3668727 1 30992257 30992447 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16491059 M 20 0 0 "" esv3683246 1 30992401 30992498 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16467999 M 20 0 1 "" nsv1144364 1 30992657 30992716 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995120 M 2 0 1 "" KWS1 nsv4737803 1 30997361 30997423 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16271379 M 25 0 1 "" nsv3324271 1 30997366 30997420 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491740 M 14 0 1 "" HG02818 nsv5984002 1 30997377 30997628 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522403 M 405 0 1 "" nsv5984003 1 30997380 30997462 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529378 M 405 0 1 "" nsv5574983 1 30997384 30997433 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064999 M 35 0 1 "" NA19238 nsv5884173 1 30997393 30997442 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362120 M 914 0 1 "" esv3683247 1 30998177 30998232 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468000 M 20 0 1 "" nsv4037819 1 30998559 30998616 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966162 M 10847 1 0 "" nsv5425829 1 30999279 30999337 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903572 M 3202 0 1 "" nsv6333312 1 31006187 31007173 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060331 M 19652 0 1 "" nsv5431626 1 31007203 31007287 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903574 M 3202 1 0 "" nsv4049148 1 31014513 31015274 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966163 M 10847 1 0 "" nsv4038779 1 31014730 31015288 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850273 M 10847 0 1 "" nsv4050552 1 31017091 31017247 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850274 M 10847 0 1 "" nsv3193195 1 31018211 31047349 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14253242,nssv14253241 M 9 0 2 "" NA19239,NA19240 nsv5676157 1 31022547 31022547 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17195106 M 3202 1 0 "" nsv5404243 1 31022547 31022598 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903575 M 3202 1 0 "" nsv6328828 1 31032131 31032569 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060332 M 19652 0 1 "" esv8551 1 31033797 31034106 OTHER inversion Ahn_et_al_2009 19470904 Sequencing essv30992 M 1 0 0 "" esv6950 1 31040394 31041888 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29391 M 1 0 0 "" esv3560249 1 31040581 31041726 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9758996 M 767 0 1 "" esv2746042 1 31040642 31041648 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880430,essv6843905,essv6710605,essv6793308,essv6929071,essv6797465,essv6719043,essv6669365,essv6868726,essv6666912 M 96 0 10 "" SSM005,SSM007,SSM020,SSM030,SSM042,SSM071,SSM072,SSM085,SSM090,SSM094 nsv5567251 1 31040644 31041658 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065000 M 35 0 1 "" NA19238 esv2668966 1 31040644 31041659 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6204081,essv6323510,essv5776128,essv6045328,essv6425261,essv6531043,essv6023603,essv5486753,essv5632927,essv5630182,essv6116203,essv5861367,essv6313097,essv5556791,essv6328452,essv5484693,essv5830524,essv6541961,essv5885856,essv5500420,essv5629234,essv5930011,essv6072411,essv5659770,essv5558787,essv6486396,essv5435970,essv6300276,essv5876210,essv5463993,essv6309470,essv6085502,essv6191543,essv5543568,essv6242903,essv6268982,essv5510877,essv5638780,essv5565988,essv5589510,essv6081967,essv6468651,essv5760866,essv6304813,essv6098833,essv6449854,essv5519157,essv6119520,essv5691540,essv6371174,essv6481510,essv6291535,essv5497517,essv5786736,essv5861424,essv6347134,essv5622572,essv5998744,essv6489983,essv5548346,essv6533239,essv5732806,essv5910462,essv6332020,essv6483571,essv5626746,essv6000385,essv5891421,essv6102901,essv6044624,essv6541394,essv6426669,essv6556984,essv6341091,essv5860228,essv5690200,essv5998689,essv6320464,essv5849524,essv5443989,essv6265484,essv5775115,essv5709028,essv6321330,essv5759709,essv5500463,essv6457202,essv6442156,essv6366415,essv6292025,essv6342795,essv5411518,essv5500955,essv5403914,essv6588658,essv6594898,essv5645182,essv5545927,essv6553784,essv5785613,essv6332289,essv6244294,essv5426477,essv5423860,essv6565150,essv5656230,essv5624410,essv5418422,essv6454820,essv6067028,essv5538304,essv6436199,essv5785713,essv6382873,essv5652588,essv5799176,essv6244662,essv6242497,essv6186719,essv5474306,essv5833114,essv6013602,essv5427276,essv6025784,essv6428950,essv5940462,essv6205869,essv6309493,essv5872921,essv6190409,essv6004087,essv6376997,essv6051064,essv6534048,essv5568548,essv6476361,essv5646999,essv5731126,essv6579895,essv5629300,essv5973146,essv5414156,essv5823372,essv5412711,essv5673797,essv5946538,essv6228237,essv6004933,essv6136140,essv5965147,essv6415892,essv6202847,essv6144002,essv6220219,essv6429210,essv5806212,essv5594132,essv5725891,essv5506893,essv5859159,essv6431664,essv6447705,essv5788619,essv5898240,essv5488972,essv6570490,essv5877871,essv6315119,essv6241655,essv6506278,essv6405173,essv5465940,essv6288300,essv6489163,essv6203169,essv5434636,essv5720222,essv5702566,essv6216299,essv5819873,essv5927099,essv6045527,essv5999608,essv5538494,essv5405777,essv5699935 M 1151 0 186 "" HG00111,HG00112,HG00143,HG00176,HG00178,HG00189,HG00271,HG00284,HG00312,HG00321,HG00330,HG00344,HG00357,HG00373,HG00419,HG00428,HG00472,HG00537,HG00543,HG00554,HG00559,HG00566,HG00577,HG00578,HG00581,HG00608,HG00613,HG00634,HG00635,HG00637,HG00650,HG00654,HG00657,HG00672,HG00693,HG00701,HG00702,HG00705,HG00707,HG01048,HG01067,HG01069,HG01075,HG01101,HG01108,HG01365,HG01390,NA12749,NA18498,NA18499,NA18504,NA18505,NA18519,NA18522,NA18523,NA18535,NA18539,NA18545,NA18546,NA18548,NA18550,NA18555,NA18557,NA18558,NA18562,NA18563,NA18566,NA18567,NA18572,NA18574,NA18576,NA18596,NA18605,NA18606,NA18608,NA18609,NA18610,NA18613,NA18618,NA18620,NA18622,NA18624,NA18626,NA18853,NA18858,NA18870,NA18874,NA18908,NA18934,NA18941,NA18944,NA18948,NA18950,NA18963,NA18980,NA18984,NA18985,NA18990,NA19000,NA19007,NA19055,NA19056,NA19059,NA19064,NA19067,NA19077,NA19078,NA19080,NA19083,NA19085,NA19088,NA19093,NA19099,NA19108,NA19116,NA19137,NA19172,NA19223,NA19235,NA19236,NA19238,NA19239,NA19240,NA19248,NA19256,NA19312,NA19316,NA19347,NA19350,NA19371,NA19372,NA19374,NA19379,NA19380,NA19382,NA19390,NA19393,NA19394,NA19404,NA19430,NA19431,NA19436,NA19439,NA19440,NA19445,NA19446,NA19449,NA19451,NA19452,NA19453,NA19456,NA19457,NA19461,NA19466,NA19467,NA19471,NA19472,NA19625,NA19660,NA19685,NA19700,NA19701,NA19711,NA19713,NA19725,NA19780,NA19789,NA19818,NA19819,NA19834,NA19835,NA19901,NA19908,NA19916,NA19917,NA19921,NA20296,NA20527,NA20533,NA20541,NA20586,NA20760,NA20787,NA20795,NA20811,NA20818 nsv5983816 1 31040644 31041660 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536389 M 405 0 1 "" dgv70n106 1 31040644 31041671 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1129521,nsv1131921 M 2 0 1 "" KWS1 nsv3938145 1 31040645 31041660 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181902 M 1 0 1 "" HG002 nsv5874451 1 31040645 31041660 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354057 M 914 0 1 "" nsv3324272 1 31040646 31041660 CNV line1 deletion Audano_et_al_2019 30661756 Sequencing nssv14734446,nssv14740676,nssv14746985 M 14 0 3 "" HG02818,HX1,NA19240 nsv4449165 1 31040646 31041661 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15758342 M 1 0 1 "" nsv4735091 1 31040647 31041662 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279341 M 25 0 1 "" dgv167n152 1 31040653 31041671 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3280266,nsv3525868 M 9 0 3 "" NA19238,NA19239,NA19240 nsv4043645 1 31040660 31041659 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850275 M 10847 0 1 "" nsv5430136 1 31040660 31041659 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901267 M 3202 0 1 "" nsv4048172 1 31041000 31051000 OTHER complex gnomAD_Structural_Variants 32461652 Sequencing nssv15966164,nssv15850276 M 10847 1 1 "" nsv5950736 1 31041648 31041648 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17364853 M 914 1 0 "" nsv5554637 1 31041662 31041713 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901269 M 3202 1 0 "" nsv5723588 1 31041665 31041665 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17250979 M 3202 1 0 "" nsv6323272 1 31059248 31061947 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060333 M 19652 0 1 "" esv3585630 1 31060066 31104384 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895365 M 2504 0 1 "" NA20540 nsv6317507 1 31064448 31066947 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060334 M 19652 0 1 "" nsv4461120 1 31065323 31065324 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16030326 M 10847 1 0 "" esv2746053 1 31066591 31067388 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6748575,essv6789170,essv6941801,essv6972379 M 96 0 4 "" SSM008,SSM023,SSM029,SSM070 esv2746064 1 31066955 31067341 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6789170,essv6941801 M 96 0 2 "" SSM023,SSM070 esv2746075 1 31067025 31067169 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6941801 M 96 0 1 "" SSM023 nsv4739602 1 31067115 31067174 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16282910 M 25 0 1 "" nsv5577984 1 31067151 31067208 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065001 M 35 0 1 "" HG00512 nsv3945380 1 31067151 31067209 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181903 M 1 0 1 "" HG002 nsv5983772 1 31067151 31067209 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522902 M 405 0 1 "" nsv3200107 1 31069097 31073291 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14253267,nssv14253268 M 9 0 2 "" NA19239,NA19240 nsv1009641 1 31070465 31081441 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3467824 M 11257 0 1 "" nsv4036899 1 31070600 31070672 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966165 M 10847 1 0 "" nsv6138290 1 31070600 31070672 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901270 M 3202 1 0 "" nsv4754078 1 31070606 31070606 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16263481 M 25 1 0 "" nsv5608033 1 31070606 31070606 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065002 M 35 1 0 "" HG00512 nsv5869663 1 31070606 31070668 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17354719 M 914 1 0 "" nsv1142055 1 31070606 31070669 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3993566 M 2 1 0 "" KWS2 nsv2801827 1 31070636 31070636 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13703219 M 2 1 0 "" nsv3324531 1 31070636 31070636 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484265,nssv14488906,nssv14490925,nssv14475108,nssv14477983,nssv14490246,nssv14472231 M 14 7 0 "" CHM1,CHM13,HG00268,HG02059,HG02106,HX1,NA19240 nsv6042399 1 31070637 31070637 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518979 M 405 1 0 "" nsv3182535 1 31070649 31070712 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391640,nssv14413540 M 9 0 0 "" HG00514,NA19240 nsv3056804 1 31070673 31070673 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031336 M 2 1 0 "" CHM1 nsv5885341 1 31070960 31071013 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359905 M 914 0 1 "" nsv4040172 1 31072103 31085959 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850277 M 10847 0 1 "" nsv4460815 1 31075048 31075049 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024558 M 10847 1 0 "" esv3664861 1 31077164 31077164 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487579 M 20 1 0 "" esv2746086 1 31082289 31083175 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6744951,essv6914010,essv6871730,essv6719054,essv6929072,essv6759063,essv6933324 M 96 0 7 "" SSM007,SSM016,SSM020,SSM021,SSM055,SSM061,SSM091 nsv4745611 1 31082607 31082713 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16295832 M 25 0 1 "" nsv5565490 1 31082617 31082722 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065003 M 35 0 1 "" HG00512 nsv3525545 1 31082617 31082723 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360623 M 9 0 1 "" HG00512 nsv3927832 1 31082617 31082723 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181904 M 1 0 1 "" HG002 nsv4449507 1 31082617 31082723 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15758118 M 1 0 1 "" nsv5983773 1 31082617 31082723 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531599 M 405 0 1 "" nsv4043511 1 31082627 31082706 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850278 M 10847 0 1 "" nsv545946 1 31088967 31151452 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712140 M 17421 0 1 "" nsv5423158 1 31089963 31090045 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901271 M 3202 0 1 "" nsv5954754 1 31090507 31090507 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17349809 M 914 1 0 "" nsv4533308 1 31090507 31090508 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024559 M 10847 1 0 "" nsv4758529 1 31090516 31090516 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16278765 M 25 1 0 "" nsv6040512 1 31090516 31090516 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529285 M 405 1 0 "" nsv5689177 1 31090520 31090520 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17194699,nssv17205744 M 3202 2 0 "" nsv6241433 1 31090520 31090520 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17846035 M 1021 1 0 "" nsv5400781 1 31090520 31090571 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900328 M 3202 1 0 "" nsv6554727 1 31102944 31105077 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252377 M 19652 0 0 "" nsv6322369 1 31102948 31109347 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060335 M 19652 0 1 "" esv3368615 1 31106765 31107963 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692292 M 185 1 0 "" NA19239 esv3432910 1 31106765 31110563 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692293 M 185 1 0 "" NA19240 nsv1141131 1 31107100 31112500 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3992638 M 2 1 0 "" KWS2 nsv7679 1 31107924 31141556 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1031,nssv10785 M 9 2 0 "" NA18956,NA19240 esv3585632 1 31112695 31147310 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895464 M 2504 0 1 "" NA20540 esv3585633 1 31113463 31116753 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895465 M 2504 0 1 "" NA20522 esv2675313 1 31113480 31116605 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6154418 M 1151 0 1 "" NA20522 nsv5415074 1 31113485 31116605 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900329 M 3202 0 1 "" nsv460995 1 31113723 31272051 CNV gain Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537451 M 1557 1 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 HGDP01203 nsv545947 1 31113723 31272051 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173807 M 17421 1 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 HGDP01203 nsv6332243 1 31114962 31119706 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060336 M 19652 0 1 "" nsv1144365 1 31115689 31115742 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995121 M 2 0 1 "" KWS1 dgv145n223 1 31122325 31124194 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6319099,nsv6328265 M 19652 0 2 "" nsv5830280 1 31122387 31124186 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459919 M 914 0 0 "" esv3683258 1 31122584 31122690 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468009 M 20 0 1 "" nsv6331762 1 31122584 31124770 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203569 M 19652 1 0 "" esv6869 1 31122586 31124852 CNV loss Ahn_et_al_2009 19470904 Sequencing essv29310 M 1 0 0 "" nsv6138556 1 31122597 31124224 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900330 M 3202 0 1 "" esv3585634 1 31122662 31124260 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895467,essv9895475,essv9895483,essv9895466,essv9895482,essv9895468,essv9895479,essv9895472,essv9895478,essv9895474,essv9895480,essv9895471,essv9895481,essv9895473,essv9895476,essv9895470,essv9895477,essv9895469 M 2504 0 18 "" HG00640,HG01241,HG02052,HG02502,HG02759,HG02983,HG03060,HG03073,HG03077,NA19324,NA19375,NA19904,NA19913,NA19914,NA19917,NA20320,NA20321,NA20359 esv2746097 1 31122686 31124389 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6880432,essv6967948,essv6714262,essv6692786,essv6785007,essv6729641,essv6789171,essv6725860,essv6925703,essv6868727,essv6797466,essv6699608,essv6682841 M 96 0 13 "" SSM019,SSM028,SSM034,SSM037,SSM039,SSM043,SSM046,SSM047,SSM069,SSM070,SSM072,SSM090,SSM094 nsv3211167 1 31123273 31143858 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14261294,nssv14261298,nssv14261301,nssv14261296,nssv14261295,nssv14261297,nssv14261299,nssv14261300 M 9 8 0 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239 nsv5983774 1 31124197 31124770 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17519522 M 405 1 0 "" nsv4750712 1 31124212 31124212 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16293542 M 25 1 0 "" nsv4746195 1 31124212 31125263 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16260870 M 25 1 0 "" nsv6325325 1 31124240 31124822 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203570 M 19652 1 0 "" nsv5879825 1 31124254 31124550 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17358305 M 914 0 1 "" esv3332144 1 31124265 31124863 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692294 M 185 1 0 "" NA19240 esv24111 1 31124288 31124783 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv11013 M 40 1 0 "" NA12287 nsv3064115 1 31124321 31124321 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017016 M 2 1 0 "" NA12878 nsv3324273 1 31124329 31124329 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479702 M 14 1 0 "" HG00268 nsv6049535 1 31124363 31124363 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519728 M 405 1 0 "" nsv6138892 1 31124420 31124732 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900332 M 3202 1 0 "" nsv3053581 1 31124430 31124430 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14031656 M 2 1 0 "" NA12878 nsv2801182 1 31124585 31124585 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686247 M 2 1 0 "" nsv3324532 1 31124585 31124585 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485177,nssv14489002,nssv14487572,nssv14482108,nssv14478173,nssv14485665 M 14 6 0 "" CHM13,HG00514,HG01352,HG02106,HG02818,NA19434 nsv3542989 1 31124586 31124586 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413541 M 9 1 0 "" HG00514 esv1182314 1 31124589 31124589 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4283188 M 2 1 0 "" HuRef nsv3539073 1 31124600 31124600 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14380829 M 9 1 0 "" NA19240 nsv5606012 1 31124600 31124600 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065004 M 35 1 0 "" HG00512 nsv3323381 1 31124601 31124601 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477012 M 14 1 0 "" HG00268 nsv3324533 1 31124610 31124610 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483368 M 14 1 0 "" NA19240 nsv6054910 1 31124610 31124610 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525336 M 405 1 0 "" nsv3064116 1 31124631 31124631 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14036049 M 2 1 0 "" NA12878 nsv3938842 1 31124634 31124634 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192380 M 1 1 0 "" HG002 nsv5618931 1 31124634 31124634 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065005 M 35 1 0 "" NA24385 nsv5984004 1 31124660 31124716 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520170 M 405 0 1 "" nsv3051704 1 31124690 31124690 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14019496 M 2 1 0 "" NA12878 nsv5613032 1 31124691 31124691 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065006 M 35 1 0 "" NA12878 nsv3323581 1 31124692 31124692 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472597,nssv14485256 M 14 2 0 "" NA19240,NA19434 nsv3540692 1 31124709 31124709 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14376515 M 9 1 0 "" NA19240 nsv3541880 1 31124748 31124748 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14375876 M 9 1 0 "" NA19240 dgv168n152 1 31127121 31129557 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3187928,nsv3171922 M 9 0 0 "" HG00514,HG00733 nsv3534157 1 31127780 31127780 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440563 M 9 1 0 "" HG00733 esv3344309 1 31127855 31128640 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652081 M 185 1 0 "" NA19240 esv2746108 1 31127855 31128669 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6877675,essv6914011,essv6967949,essv6692788,essv6941802,essv6859206,essv6954769,essv6769538 M 96 0 8 "" SSM016,SSM023,SSM026,SSM028,SSM037,SSM065,SSM088,SSM093 esv2746119 1 31127950 31128335 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6967949,essv6692788,essv6941802,essv6859206,essv6954769 M 96 0 5 "" SSM023,SSM026,SSM028,SSM037,SSM088 nsv4754928 1 31128039 31128039 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265114 M 25 1 0 "" nsv4737906 1 31128039 31129604 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16270628 M 25 1 0 "" nsv5983817 1 31128041 31128278 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17522924 M 405 1 0 "" nsv4445069 1 31128045 31128045 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15765037 M 1 1 0 "" nsv5984005 1 31128046 31128588 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17522747 M 405 1 0 "" esv2746130 1 31128077 31128208 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859206,essv6954769 M 96 0 2 "" SSM026,SSM088 esv3683261 1 31128099 31128223 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468011 M 20 0 1 "" nsv3280967 1 31128100 31128223 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392624 M 9 0 1 "" NA19240 nsv5615356 1 31128153 31128153 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064698 M 35 1 0 "" NA12329 nsv6050627 1 31128153 31128153 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17537057 M 405 1 0 "" nsv3323382 1 31128157 31128157 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483896,nssv14478239,nssv14473634 M 14 3 0 "" CHM13,HG00514,HG01352 nsv5613247 1 31128157 31128157 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064699 M 35 1 0 "" NA12329 nsv3323383 1 31128172 31128172 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490578,nssv14479004,nssv14486556,nssv14483082,nssv14484301,nssv14475182,nssv14489290 M 14 7 0 "" HG00268,HG00514,HG01352,HG02106,HG02818,NA19240,NA19434 nsv5608111 1 31128184 31128184 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064700 M 35 1 0 "" HG02587 nsv3191135 1 31128203 31128586 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357082 M 9 0 1 "" HG00732 nsv5614734 1 31128204 31128204 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064701 M 35 1 0 "" HG03125 nsv3324274 1 31128259 31128259 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473877,nssv14472485,nssv14486914 M 14 3 0 "" HG00514,HG02818,NA19240 nsv6045774 1 31128264 31128264 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531693 M 405 1 0 "" nsv512730 1 31128287 31128619 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625356 M 1 1 0 "" 1 nsv5622535 1 31128307 31128307 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064702 M 35 1 0 "" HG00732 esv3683265 1 31128316 31128368 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468015 M 20 0 1 "" nsv2801915 1 31128322 31128322 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678044 M 2 1 0 "" nsv3324534 1 31128341 31128341 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487550,nssv14477225,nssv14490475,nssv14474592,nssv14486232,nssv14488220,nssv14488472,nssv14473616,nssv14472588 M 14 9 0 "" CHM1,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,NA19240,NA19434 nsv3323384 1 31128368 31128368 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483586,nssv14480524,nssv14491484,nssv14481220,nssv14486704,nssv14476749,nssv14488486,nssv14475106,nssv14479241,nssv14475502 M 14 10 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,NA19240,NA19434 nsv5606376 1 31128388 31128388 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064703 M 35 1 0 "" HG03125 nsv3323582 1 31128391 31128391 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489580,nssv14486820,nssv14478656,nssv14481562,nssv14478199,nssv14479130,nssv14487492,nssv14490316,nssv14486184 M 14 9 0 "" CHM1,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,NA19240,NA19434 nsv3324275 1 31128393 31128393 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14491317,nssv14485640,nssv14491428,nssv14490081,nssv14485985,nssv14484185,nssv14474511,nssv14490230,nssv14486259 M 14 9 0 "" CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,NA19240,NA19434 nsv2801183 1 31128410 31128410 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694581 M 2 1 0 "" nsv5568239 1 31128426 31128491 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064704 M 35 0 1 "" HG01505 nsv2802084 1 31128435 31128435 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682704 M 2 1 0 "" nsv3534945 1 31128450 31128450 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14391346 M 9 1 0 "" NA19240 nsv3323385 1 31128454 31128454 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488043,nssv14488879,nssv14481640,nssv14486849 M 14 4 0 "" CHM13,HG00268,HG01352,HG02106 nsv2801916 1 31128460 31128460 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689986 M 2 1 0 "" nsv3324535 1 31128460 31128460 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14486613,nssv14475312,nssv14483052,nssv14487777,nssv14481937,nssv14490128,nssv14478647,nssv14482651,nssv14482885,nssv14475766 M 14 10 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,NA19240,NA19434 nsv3530960 1 31128472 31128472 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392062 M 9 1 0 "" NA19240 nsv3538350 1 31128489 31128489 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440564 M 9 1 0 "" HG00733 nsv3323386 1 31128499 31128499 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474967 M 14 1 0 "" CHM13 nsv3324536 1 31128514 31128514 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479618 M 14 1 0 "" HG01352 nsv5614865 1 31128519 31128519 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064705 M 35 1 0 "" HG02011 nsv3537205 1 31128528 31128528 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14378333 M 9 1 0 "" NA19240 nsv3927432 1 31128528 31128528 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192381 M 1 1 0 "" HG002 nsv5623002 1 31128528 31128528 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065008,nssv17065007 M 35 2 0 "" HG00731,HG03125 nsv6058035 1 31128528 31128528 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17534608 M 405 1 0 "" nsv2802085 1 31128529 31128529 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13677001 M 2 1 0 "" nsv3324537 1 31128529 31128529 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475246,nssv14486374,nssv14485306,nssv14487733,nssv14480985,nssv14484251,nssv14474665,nssv14485116 M 14 8 0 "" CHM1,HG00268,HG00514,HG01352,HG02059,HG02106,NA19240,NA19434 nsv5607480 1 31128531 31128531 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065009 M 35 1 0 "" NA19239 nsv3542033 1 31128558 31128558 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14385459 M 9 1 0 "" NA19240 nsv2802086 1 31128559 31128559 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13684752 M 2 1 0 "" nsv3323387 1 31128559 31128559 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489315,nssv14489608,nssv14478457,nssv14483148 M 14 4 0 "" HG00514,HG01352,HG02818,NA19434 nsv1126989 1 31128792 31128848 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985280 M 2 0 1 "" KWS1 nsv6317749 1 31133919 31135088 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060339 M 19652 0 1 "" nsv5829833 1 31134647 31191053 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455675 M 914 0 0 MATN1 nsv5870761 1 31135259 31275873 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17365427 M 914 1 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 dgv145n100 1 31138918 31265845 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nsv997356,nsv1010777 M 11257 2 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 nsv6316978 1 31141933 31252371 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203571 M 19652 1 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 nsv4033208 1 31141933 31252375 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966166 M 10847 1 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 nsv947422 1 31143676 31168741 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2756747 M 97 1 0 "" HGDP00998 nsv4041408 1 31154633 31182340 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850279 M 10847 0 1 "" nsv5830281 1 31155346 31165299 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454056,nssv17460400 M 914 0 0 "" esv3585635 1 31155603 31166082 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895485,essv9895484,essv9895486 M 2504 0 3 "" HG03978,NA20540,NA21128 nsv5882105 1 31155679 31166051 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350104 M 914 0 1 "" nsv4033411 1 31155679 31166052 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850280 M 10847 0 1 "" nsv5426750 1 31155679 31166052 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900334 M 3202 0 1 "" nsv4433113 1 31155680 31166052 CNV deletion Deng_et_al_2019 31718558 Sequencing nssv15748218 M 15 0 1 "" NB08 esv2746142 1 31155697 31166035 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6885992,essv6699609 M 96 0 2 "" SSM039,SSM096 nsv5964069 1 31156217 31156217 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17359491 M 914 1 0 "" nsv3192667 1 31159410 31181574 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14253294,nssv14253293 M 9 0 2 "" NA19239,NA19240 nsv476898 1 31165011 31165011 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020294 M 9 1 0 "" NA12878 esv3664894 1 31166947 31166947 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487608 M 20 1 0 "" nsv4052345 1 31169051 31169174 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966167 M 10847 1 0 "" nsv473861 1 31169107 31169107 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019924 M 9 1 0 "" NA12156 esv3585636 1 31169439 31171991 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895488,essv9895543,essv9895545,essv9895489,essv9895533,essv9895546,essv9895491,essv9895535,essv9895547,essv9895490,essv9895530,essv9895550,essv9895487,essv9895542,essv9895548,essv9895536,essv9895549,essv9895532,essv9895544,essv9895540,essv9895510,essv9895531,essv9895513,essv9895538,essv9895507,essv9895527,essv9895518,essv9895537,essv9895508,essv9895534,essv9895512,essv9895524,essv9895519,essv9895526,essv9895516,essv9895541,essv9895499,essv9895521,essv9895517,essv9895529,essv9895509,essv9895528,essv9895515,essv9895525,essv9895504,essv9895523,essv9895505,essv9895522,essv9895501,essv9895539,essv9895498,essv9895492,essv9895500,essv9895497,essv9895506,essv9895495,essv9895503,essv9895494,essv9895502,essv9895493,essv9895514,essv9895496,essv9895520,essv9895511 M 2504 0 64 "" HG01080,HG01190,HG01200,HG01241,HG01551,HG01885,HG01889,HG01912,HG02053,HG02107,HG02330,HG02568,HG02574,HG02621,HG02623,HG02629,HG02721,HG02810,HG02941,HG03039,HG03055,HG03088,HG03109,HG03115,HG03139,HG03162,HG03169,HG03212,HG03280,HG03294,HG03351,HG03370,HG03457,HG03479,NA18557,NA18853,NA18868,NA18871,NA18877,NA18907,NA18934,NA19023,NA19099,NA19102,NA19116,NA19117,NA19121,NA19130,NA19172,NA19184,NA19201,NA19209,NA19213,NA19236,NA19239,NA19355,NA19374,NA19376,NA19443,NA19461,NA19700,NA19749,NA19901,NA20540 nsv5570573 1 31169519 31171883 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065010 M 35 0 1 "" NA19239 esv2656546 1 31169519 31171884 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5779664,essv6403387,essv6343059,essv5496188,essv6314283,essv5586299,essv5692088,essv5648646,essv6030102,essv5903354,essv6175794,essv5659778,essv5841656,essv5500377,essv6245055,essv6126681,essv5628809,essv5397852,essv5612857,essv6332223,essv6074816,essv6113791,essv6075996,essv6562708,essv6416122,essv5476416,essv5854634 M 1151 0 27 "" HG01080,HG01190,NA12891,NA18516,NA18557,NA18853,NA18868,NA18871,NA18907,NA18934,NA18953,NA19116,NA19130,NA19172,NA19201,NA19213,NA19236,NA19239,NA19240,NA19355,NA19374,NA19376,NA19443,NA19461,NA19470,NA19700,NA19901 nsv3323388 1 31169520 31171884 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478044 M 14 0 1 "" NA19240 nsv3182516 1 31169520 31171885 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14393384 M 9 0 0 "" NA19240 nsv5830282 1 31169532 31172017 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17460154,nssv17458081 M 914 0 0 "" nsv6320891 1 31169548 31171847 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060340 M 19652 0 1 "" nsv5433401 1 31169575 31171977 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900336 M 3202 0 1 "" nsv5878028 1 31169587 31171969 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17363203 M 914 0 1 "" nsv3209461 1 31169618 31171922 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357116,nssv14357115 M 9 0 2 "" NA19239,NA19240 esv26125 1 31169654 31171814 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv10436 M 40 0 3 "" NA18907,NA19099,NA19240 esv3683272 1 31175724 31175789 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468021 M 20 0 1 "" nsv509124 1 31183457 31232553 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619786 M 4 1 0 LAPTM5,MATN1,MATN1-AS1,MIR4420 NA10860 nsv5829687 1 31186600 31188853 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467600 M 914 0 0 MATN1 nsv5584510 1 31199954 31200102 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065011 M 35 0 1 "" HG03125 nsv4034970 1 31199956 31200103 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850281 M 10847 0 1 "" nsv5432891 1 31199956 31200103 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900337 M 3202 0 1 "" nsv5869293 1 31200723 31200776 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362367 M 914 0 1 "" nsv5983913 1 31200727 31200779 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526507 M 405 0 1 "" esv1007398 1 31203098 31205040 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565079 M 3 1 0 "" HuRef nsv3220867 1 31204015 31210644 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14262247,nssv14262248,nssv14261815,nssv14261814,nssv14261816,nssv14262250,nssv14262251,nssv14262249,nssv14261324 M 9 9 0 LAPTM5 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3375939 1 31204905 31205331 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8652082 M 185 1 0 LAPTM5 NA19240 nsv4757675 1 31204999 31204999 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16260185 M 25 1 0 "" nsv5983818 1 31205013 31205214 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17528187 M 405 1 0 "" nsv6053844 1 31205107 31205107 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527817 M 405 1 0 "" nsv512731 1 31205135 31205374 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625357 M 1 1 0 LAPTM5 1 nsv3536229 1 31205211 31205211 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14373570 M 9 1 0 "" NA19240 nsv3541594 1 31205215 31205215 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413542,nssv14440565 M 9 2 0 "" HG00514,HG00733 nsv3929276 1 31205215 31205215 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192382 M 1 1 0 "" HG002 nsv5623313 1 31205215 31205215 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065012 M 35 1 0 "" HG00731 nsv6059994 1 31205215 31205215 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17522292 M 405 1 0 "" nsv2802087 1 31205216 31205216 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13694386,nssv13677476 M 2 2 0 "" nsv3323583 1 31205216 31205216 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480607,nssv14485332,nssv14475191,nssv14485159,nssv14477732,nssv14488242,nssv14477123,nssv14481824,nssv14475999,nssv14488554,nssv14477757,nssv14475634,nssv14491035,nssv14473191 M 14 14 0 "" CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv3060808 1 31205218 31205218 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14020342 M 2 1 0 "" CHM1 nsv4445070 1 31205220 31205220 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15768432 M 1 1 0 "" nsv6043678 1 31217136 31217136 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526181 M 405 1 0 LAPTM5 nsv6550622 1 31219111 31223030 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252378 M 19652 0 0 LAPTM5 nsv6328254 1 31223038 31224057 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060341 M 19652 0 1 LAPTM5 nsv4045520 1 31225976 31226150 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966168 M 10847 1 0 LAPTM5 nsv4036764 1 31226000 31231000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966169 M 10847 1 0 LAPTM5 nsv7690 1 31232350 31263356 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5460 M 9 1 0 "" NA19129 nsv5428903 1 31235751 31235821 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900340 M 3202 0 1 "" nsv5829984 1 31241982 31275173 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462191 M 914 0 0 "" esv2746153 1 31244155 31245135 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6748586,essv6742157,essv6735985,essv6703877,essv6843906,essv6738823,essv6902555,essv6773452,essv6710606,essv6753511,essv6839991,essv6776952,essv6916874,essv6714263,essv6729643,essv6898597,essv6695798,essv6829026,essv6789172,essv6914012,essv6692789,essv6747795,essv6793309,essv6813182,essv6910065,essv6967950,essv6804413,essv6929073,essv6925704,essv6921742,essv6801630,essv6816843,essv6972380,essv6750619,essv6950362,essv6668975,essv6733496,essv6816603,essv6766562,essv6877009,essv6961581,essv6756566,essv6769539,essv6784787,essv6759064,essv6853257,essv6669377,essv6689276,essv6666913,essv6863971 M 96 0 50 "" SSM001,SSM003,SSM004,SSM005,SSM006,SSM008,SSM009,SSM010,SSM012,SSM013,SSM015,SSM016,SSM018,SSM019,SSM020,SSM027,SSM028,SSM029,SSM030,SSM031,SSM036,SSM037,SSM040,SSM042,SSM043,SSM047,SSM049,SSM050,SSM052,SSM053,SSM056,SSM057,SSM058,SSM059,SSM061,SSM064,SSM065,SSM066,SSM067,SSM070,SSM071,SSM073,SSM074,SSM077,SSM078,SSM081,SSM084,SSM085,SSM087,SSM089 esv1920491 1 31244478 31244868 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4835916 M 1 0 1 "" NA18507 esv2746164 1 31244564 31244672 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6668975,essv6863971 M 96 0 2 "" SSM031,SSM089 nsv1145757 1 31244566 31244623 CNV deletion John_et_al_2014 26484159 Sequencing nssv3997118 M 1 0 1 "" KWB1 nsv160695 1 31244571 31244662 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179273 M 24 "" nsv1077292 1 31244577 31244746 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3768525 M 1 0 1 "" KWP1 esv3683274 1 31244587 31244683 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468023 M 20 0 1 "" nsv4743647 1 31244649 31244744 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16272719 M 25 0 1 "" nsv5574965 1 31244650 31244743 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065013 M 35 0 1 "" HG00731 nsv5878667 1 31244650 31244743 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351044 M 914 0 1 "" esv3560271 1 31244650 31244744 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759018 M 767 0 1 "" nsv3524887 1 31244650 31244744 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357765,nssv14357772,nssv14357767,nssv14357770,nssv14357766,nssv14357769,nssv14357771,nssv14357764,nssv14357768 M 9 0 9 "" HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv3937512 1 31244650 31244744 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181905 M 1 0 1 "" HG002 nsv4449508 1 31244650 31244744 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15766426 M 1 0 1 "" nsv5984006 1 31244650 31244744 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527593 M 405 0 1 "" nsv2802088 1 31244652 31244745 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13696297 M 2 0 1 "" nsv3323584 1 31244652 31244745 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14472487,nssv14483019,nssv14477053,nssv14487971,nssv14480739,nssv14478516,nssv14486960,nssv14489658,nssv14490630,nssv14479242,nssv14490261 M 14 0 11 "" CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02818,HG04217,NA12878,NA19240,NA19434 nsv3175216 1 31244657 31244751 CNV alu deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14393047,nssv14419185,nssv14447440 M 9 0 3 "" HG00514,HG00733,NA19240 esv1626816 1 31244661 31244755 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3654771 M 2 0 1 "" HuRef nsv5882638 1 31244661 31245025 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353017 M 914 0 1 "" nsv1148133 1 31244662 31244753 CNV deletion John_et_al_2014 26484159 Sequencing nssv4001641 M 1 0 1 "" KWB1 nsv159749 1 31244662 31244755 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178327 M 24 "" esv2746175 1 31244671 31244881 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6853257 M 96 0 1 "" SSM087 nsv3949392 1 31246006 31246006 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192383 M 1 1 0 "" HG002 nsv5620108 1 31246006 31246006 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065014 M 35 1 0 "" NA24385 nsv159205 1 31246007 31246007 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv177783 M 24 "" nsv3281501 1 31246007 31246118 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392682 M 9 0 1 "" NA19240 nsv3323389 1 31246010 31246119 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487577,nssv14476979 M 14 0 2 "" HG01352,NA19240 nsv3324538 1 31246013 31246013 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473988 M 14 1 0 "" HX1 nsv5983775 1 31246051 31246134 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519391 M 405 0 1 "" nsv5887081 1 31246067 31246288 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17361571 M 914 0 1 "" esv2746186 1 31246075 31246220 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6892331,essv6780890,essv6941803,essv6929075,essv6769540 M 96 0 5 "" SSM020,SSM023,SSM065,SSM068,SSM098 nsv6055773 1 31246107 31246107 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524168 M 405 1 0 "" nsv6054602 1 31246178 31246178 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526358 M 405 1 0 "" nsv5572950 1 31246178 31246288 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065015 M 35 0 1 "" NA19239 esv2746197 1 31248586 31249647 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6742158,essv6885993,essv6843907,essv6797467,essv6821196,essv6773454,essv6916885,essv6738824,essv6686163,essv6802709,essv6675215,essv6750621,essv6816854,essv6972381,essv6954770,essv6950374,essv6961582,essv6769541,essv6853258 M 96 0 19 "" SSM002,SSM003,SSM004,SSM010,SSM026,SSM027,SSM029,SSM032,SSM035,SSM052,SSM053,SSM057,SSM065,SSM066,SSM072,SSM079,SSM085,SSM087,SSM096 esv2746208 1 31249003 31249492 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6885993,essv6675215,essv6742158,essv6843907,essv6773454,essv6821196,essv6916885,essv6797467,essv6738824,essv6686163,essv6954770,essv6750621,essv6950374,essv6961582,essv6853258,essv6769541 M 96 0 16 "" SSM003,SSM004,SSM026,SSM027,SSM032,SSM035,SSM052,SSM053,SSM057,SSM065,SSM066,SSM072,SSM079,SSM085,SSM087,SSM096 esv4431 1 31249037 31249527 CNV loss Wang_et_al_2008 18987735 Sequencing essv26872 M 1 0 1 "" YH nsv3323390 1 31249051 31249101 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14480111 M 14 0 1 "" HG02106 nsv3323585 1 31249056 31249173 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14476400 M 14 0 1 "" HG04217 nsv4746949 1 31249057 31249188 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16268283 M 25 0 1 "" esv3683277 1 31249062 31249219 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468026 M 20 0 1 "" nsv3282543 1 31249063 31249123 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14392793 M 9 0 1 "" NA19240 dgv169n152 1 31249063 31249160 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3281317,nsv3279953 M 9 0 2 "" HG00514,HG00733 esv2746219 1 31249114 31249326 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6885993,essv6797467,essv6821196,essv6916885,essv6773454,essv6686163,essv6675215,essv6954770,essv6950374 M 96 0 9 "" SSM003,SSM004,SSM026,SSM032,SSM035,SSM066,SSM072,SSM079,SSM096 esv1377768 1 31249153 31249224 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv4095672 M 2 0 1 "" HuRef nsv5565330 1 31249170 31249261 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065016 M 35 0 1 "" HG00731 nsv2801917 1 31249173 31249282 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13696203 M 2 0 1 "" nsv3323586 1 31249173 31249282 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14487129,nssv14477413,nssv14479673,nssv14486295 M 14 0 4 "" CHM13,HG00733,HG02059,HG02818 esv3560282 1 31249174 31249314 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759029 M 767 0 1 "" nsv956244 1 31249190 31249335 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv3000566 M 1 0 1 "" BILGI_BIOE nsv5676334 1 31249191 31249191 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205745 M 3202 1 0 "" nsv5983819 1 31249207 31249306 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520258 M 405 0 1 "" nsv3324276 1 31249234 31249305 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489271 M 14 0 1 "" HG00514 nsv6322216 1 31257739 31258198 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060342 M 19652 0 1 "" nsv4037823 1 31257744 31258198 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850283 M 10847 0 1 "" nsv4052160 1 31264269 31264570 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850284 M 10847 0 1 "" nsv3323587 1 31264321 31264321 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482613 M 14 1 0 "" HG02106 nsv3323391 1 31264395 31264395 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480096 M 14 1 0 "" HG02106 nsv3323392 1 31264481 31264547 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14477752 M 14 0 1 "" HG02106 nsv3323588 1 31264562 31264680 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474439 M 14 0 1 "" HG02106 esv2746230 1 31268348 31268728 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6793311,essv6946513,essv6689278,essv6797468,essv6836203,essv6950385 M 96 0 6 "" SSM004,SSM024,SSM036,SSM071,SSM072,SSM083 esv3683279 1 31268487 31268548 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468028 M 20 0 1 "" nsv3323393 1 31268489 31268548 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14489398 M 14 0 1 "" HG04217 nsv5566531 1 31268520 31268579 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065017 M 35 0 1 "" NA18939 nsv5869634 1 31268520 31268579 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351294 M 914 0 1 "" nsv4742884 1 31268523 31268581 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16272197 M 25 0 1 "" nsv5983914 1 31268532 31268590 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527615 M 405 0 1 "" nsv4039894 1 31272792 31272885 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849407 M 10847 0 1 "" nsv3323394 1 31272821 31272821 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14489844 M 14 1 0 "" HG02106 nsv3324539 1 31272866 31272917 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14472824 M 14 0 1 "" HG02106 nsv1137745 1 31272894 31272990 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3990256 M 2 0 1 "" KWS2 nsv3323589 1 31272922 31272996 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473995 M 14 0 1 "" HG02106 esv3585637 1 31275317 31281583 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895552,essv9895551 M 2504 0 2 "" HG02895,NA19210 nsv4035790 1 31275423 31281594 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849408 M 10847 0 1 "" nsv5416533 1 31275435 31281594 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900342 M 3202 0 1 "" nsv6318520 1 31275435 31281594 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060343 M 19652 0 1 "" nsv474060 1 31286316 31286316 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3014320 M 9 1 0 "" NA12156 nsv5430783 1 31287244 31287325 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900343 M 3202 1 0 "" nsv4517416 1 31289427 31289836 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849409 M 10847 0 1 "" nsv5427136 1 31289427 31289836 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16900344 M 3202 0 1 "" nsv5966281 1 31304647 31304647 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17352503 M 914 1 0 "" nsv5829688 1 31316242 31317341 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454475 M 914 0 0 "" nsv5873120 1 31316251 31317317 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17352572 M 914 0 1 "" nsv5983915 1 31316252 31317319 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525900 M 405 0 1 "" nsv5426498 1 31316255 31317318 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901292 M 3202 0 1 "" esv3585638 1 31316259 31317327 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895553 M 2504 0 1 "" HG01848 nsv4051551 1 31316668 31316905 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849410 M 10847 0 1 "" nsv4048513 1 31323742 31332538 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849411 M 10847 0 1 "" nsv5540908 1 31330049 31330051 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901294 M 3202 1 0 "" nsv5953512 1 31335086 31335086 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17363542 M 914 1 0 "" esv2746241 1 31335968 31336244 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6747796,essv6761870 M 96 0 2 "" SSM056,SSM062 nsv6322528 1 31336273 31338205 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060344 M 19652 0 1 "" nsv519204 1 31337417 31402148 CNV gain Shaikh_et_al_2009 19592680 SNP array nssv696692 M 2026 1 0 SDC3 nsv6325153 1 31337917 31339139 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203572 M 19652 1 0 "" nsv5873997 1 31338042 31339144 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368174 M 914 0 1 "" nsv3324277 1 31339142 31339142 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14485371 M 14 1 0 "" NA19434 nsv5537327 1 31339142 31339142 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901297 M 3202 1 0 "" nsv4537551 1 31339142 31339143 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024560 M 10847 1 0 "" nsv5556661 1 31339142 31339145 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901296 M 3202 0 0 "" nsv5956659 1 31339143 31339143 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17361787 M 914 1 0 "" nsv6318992 1 31339754 31340875 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060345 M 19652 0 1 "" nsv4048459 1 31339755 31340875 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849412 M 10847 0 1 "" dgv27e212 1 31340436 31342836 CNV loss Uddin_et_al_2014 25503493 SNP array esv3577801,esv3577800 M 873 0 4 SDC3 400360SM,400654YW,400934LA,401563TK nsv5557604 1 31343903 31344760 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901299 M 3202 0 0 SDC3 nsv5547484 1 31343904 31343904 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901300 M 3202 1 0 SDC3 nsv5975676 1 31343904 31344759 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17353972 M 914 0 0 SDC3 nsv461006 1 31347320 31375569 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537462 M 1557 0 1 SDC3 HGDP01077 nsv545948 1 31347320 31375569 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173808 M 17421 0 1 SDC3 HGDP01077 nsv4536296 1 31347691 31347692 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024561 M 10847 1 0 SDC3 nsv6335124 1 31353696 31354028 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060346 M 19652 0 1 SDC3 nsv545949 1 31354077 31408056 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712141 M 17421 0 1 PUM1,SDC3 nsv6322131 1 31357489 31371823 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060347 M 19652 0 1 SDC3 nsv4461872 1 31360358 31360359 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024562 M 10847 1 0 SDC3 nsv5691438 1 31360368 31360368 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17195450 M 3202 1 0 SDC3 nsv5411834 1 31360368 31360373 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901301 M 3202 1 0 SDC3 nsv470707 1 31362224 31417458 CNV gain Jakobsson_et_al_2008 18288195 SNP array nssv547720 M 443 1 0 PUM1,SDC3,SNORD103A,SNORD103B HGDP01049 esv2746253 1 31366491 31367783 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6883266,essv6874721,essv6748599,essv6797469,essv6719076,essv6843908,essv6703878,essv6916896,essv6776953,essv6785008,essv6839992,essv6871732,essv6729644,essv6780891,essv6789173,essv6910066,essv6793312,essv6668976,essv6967951,essv6954771,essv6692790,essv6941804,essv6925705,essv6917453,essv6929076,essv6824995,essv6972382,essv6714264,essv6722020,essv6718174,essv6675216,essv6689279,essv6961583,essv6877020,essv6937698,essv6847041,essv6853259,essv6950582,essv6699611,essv6863972 M 96 0 40 SDC3 SSM003,SSM007,SSM008,SSM012,SSM015,SSM017,SSM019,SSM020,SSM022,SSM023,SSM025,SSM026,SSM027,SSM028,SSM029,SSM031,SSM032,SSM036,SSM037,SSM039,SSM040,SSM043,SSM044,SSM045,SSM047,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM080,SSM084,SSM085,SSM086,SSM087,SSM089,SSM091,SSM092,SSM095 esv3668852 1 31367067 31367162 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16491171 M 20 0 0 SDC3 esv2746264 1 31367124 31367817 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6883266,essv6719076,essv6703878,essv6714264,essv6776953,essv6839992,essv6916896,essv6785008,essv6902556,essv6843908,essv6797469,essv6829027,essv6729644,essv6780891,essv6789173,essv6668976,essv6874721,essv6793312,essv6871732,essv6910066,essv6967951,essv6722020,essv6941804,essv6689279,essv6929076,essv6925705,essv6816865,essv6824995,essv6954771,essv6917453,essv6675216,essv6853259,essv6961583,essv6937698,essv6859207,essv6877020,essv6692790,essv6699611,essv6847041,essv6863972,essv6718174,essv6950582 M 96 0 42 SDC3 SSM003,SSM007,SSM010,SSM012,SSM013,SSM015,SSM017,SSM019,SSM020,SSM022,SSM023,SSM025,SSM026,SSM027,SSM028,SSM031,SSM032,SSM036,SSM037,SSM039,SSM040,SSM043,SSM044,SSM045,SSM047,SSM067,SSM068,SSM069,SSM070,SSM071,SSM072,SSM080,SSM081,SSM084,SSM085,SSM086,SSM087,SSM088,SSM089,SSM091,SSM092,SSM095 esv2244846 1 31367289 31367731 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4651898 M 1 0 1 SDC3 NA18507 nsv5984007 1 31367378 31367447 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17529964 M 405 0 1 SDC3 nsv160596 1 31367381 31367445 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179174 M 24 SDC3 esv2746275 1 31367421 31367512 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6675216 M 96 0 1 SDC3 SSM032 nsv5584384 1 31367465 31367531 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065018 M 35 0 1 SDC3 HG00731 nsv5887407 1 31367465 31367531 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17359823 M 914 0 1 SDC3 nsv1133833 1 31367465 31367532 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970155 M 2 0 1 SDC3 KWS2 nsv4449509 1 31367465 31367532 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15764471 M 1 0 1 SDC3 esv3683288 1 31367465 31367533 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468036 M 20 0 1 SDC3 dgv170n152 1 31367465 31367539 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3281331,nsv3525833 M 9 0 8 SDC3 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19240 nsv2801828 1 31367467 31367533 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13702518 M 2 0 1 SDC3 nsv3323590 1 31367467 31367533 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491604,nssv14484158,nssv14476297,nssv14474309,nssv14481945,nssv14482769,nssv14472344,nssv14489758,nssv14487999 M 14 0 9 SDC3 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG04217,NA12878,NA19434 nsv4736601 1 31367473 31367540 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16290942 M 25 0 1 SDC3 nsv3937642 1 31367476 31367543 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181906 M 1 0 1 SDC3 HG002 nsv5983776 1 31367477 31367551 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518900 M 405 0 1 SDC3 dgv11n140 1 31367487 31367565 CNV deletion Fan_et_al_2017 28104618 Sequencing nsv3063196,nsv3055163 M 2 0 2 SDC3 CHM1,NA12878 nsv160199 1 31367506 31367572 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv178777 M 24 SDC3 esv3386830 1 31369811 31369822 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863687 M 185 1 0 SDC3 NA12005 nsv5886366 1 31372905 31373610 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17354364 M 914 0 1 SDC3 nsv4040485 1 31373338 31376799 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849413 M 10847 0 1 SDC3 nsv6327955 1 31373338 31376799 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060348 M 19652 0 1 SDC3 nsv5884601 1 31375961 31376744 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17368618 M 914 0 1 SDC3 nsv4032459 1 31375963 31376745 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849414 M 10847 0 1 SDC3 nsv6318115 1 31379558 31379873 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060349 M 19652 0 1 SDC3 nsv1130952 1 31381000 31381900 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967652 M 2 0 1 SDC3 KWS2 nsv950377 1 31381201 31381800 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997116 M 1 0 1 SDC3 BILGI_BIOE nsv4044331 1 31385588 31390917 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966170 M 10847 1 0 "" nsv6316107 1 31390014 31394311 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060350 M 19652 0 1 "" nsv6331123 1 31392352 31398743 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060351 M 19652 0 1 "" esv3674788 1 31393287 31393288 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496512 M 20 0 0 "" nsv6325215 1 31397695 31398987 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060352 M 19652 0 1 "" nsv5430244 1 31399059 31400001 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901303 M 3202 0 1 "" nsv5419665 1 31399238 31399590 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901304 M 3202 0 1 "" nsv4047237 1 31399267 31400001 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849415 M 10847 0 1 "" esv3560304 1 31399292 31400071 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759051 M 767 0 1 "" nsv5582438 1 31399299 31400012 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065019 M 35 0 1 "" NA19239 nsv5885930 1 31399299 31400012 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17362786 M 914 0 1 "" esv2665407 1 31399299 31400013 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5772839,essv6460490,essv5880555,essv6365744,essv5418370,essv6553398,essv6522988,essv5768700,essv6584926,essv6365512,essv6410170,essv5623814,essv6413571,essv5613766,essv6425336,essv5857719,essv5483068,essv5414374,essv5559161,essv5816836,essv5691843,essv5886995 M 1151 0 22 "" HG00188,HG00325,HG00428,HG00443,HG00448,HG00475,HG00479,HG00536,HG00542,HG00559,HG00577,HG00654,HG00699,HG00701,HG00707,NA18550,NA18597,NA18599,NA18638,NA18940,NA18989,NA19067 nsv5983916 1 31399299 31400013 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533330 M 405 0 1 "" nsv3525502 1 31399309 31400014 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357834 M 9 0 1 "" NA19239 nsv4733824 1 31399314 31400028 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16263465 M 25 0 1 "" nsv6333620 1 31399343 31400001 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060353 M 19652 0 1 "" esv2746286 1 31399359 31400071 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6776954,essv6686164,essv6753512,essv6761871,essv6801631,essv6769543 M 96 0 6 "" SSM035,SSM058,SSM062,SSM065,SSM067,SSM073 nsv947423 1 31407051 31414414 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2766057 M 97 1 0 PUM1,SNORD103A,SNORD103B HGDP00998 nsv545950 1 31408056 31535163 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712142 M 17421 0 1 PUM1,SNORD103A,SNORD103B,SNORD85 nsv945863 1 31408214 31409297 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1759014,nssv1759075,nssv1757349,nssv1757358,nssv1759016,nssv1757339,nssv1759022,nssv1757356,nssv1759023,nssv1759061,nssv1759015,nssv1759064,nssv1757342,nssv1759080,nssv1759047,nssv1759073,nssv1757347,nssv1759051,nssv1757350,nssv1759055,nssv1759044,nssv1759052,nssv1759020,nssv1759068,nssv1759048,nssv1757351,nssv1759018,nssv1759060,nssv1759041,nssv1757334,nssv1759036,nssv1759065,nssv1759040,nssv1757360,nssv1759019,nssv1757352,nssv1759017,nssv1757354,nssv1759035,nssv1757359,nssv1759034,nssv1759079,nssv1759024,nssv1757353,nssv1757348,nssv1759069,nssv1759042,nssv1759077,nssv1759046,nssv1757340,nssv1759045,nssv1757335,nssv1757341,nssv1757337,nssv1759039,nssv1759057,nssv1759029,nssv1759074,nssv1759025,nssv1759059,nssv1759028,nssv1757333,nssv1759021,nssv1757336,nssv1757344,nssv1757357,nssv1759050,nssv1757355,nssv1757343,nssv1757332,nssv1757346,nssv1759053,nssv1759013,nssv1759071,nssv1759049,nssv1759054,nssv1759030,nssv1759076,nssv1759031,nssv1759058,nssv1759033,nssv1759062,nssv1759027,nssv1759056,nssv1759043,nssv1759067,nssv1759032,nssv1759078,nssv1759026,nssv1759072,nssv1757345,nssv1757338,nssv1759038,nssv1759063,nssv1759037,nssv1759066,nssv1759070 M 97 10 0 PUM1,SNORD103A,SNORD103B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6554113 1 31411125 31411705 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252379 M 19652 0 0 PUM1 nsv945864 1 31422025 31422821 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757446,nssv1757428,nssv1757364,nssv1757425,nssv1757371,nssv1757411,nssv1757363,nssv1757454,nssv1757362,nssv1757415,nssv1757370,nssv1757414,nssv1757372,nssv1757403,nssv1757442,nssv1757405,nssv1757389,nssv1757436,nssv1757384,nssv1757409,nssv1757447,nssv1757407,nssv1757378,nssv1757420,nssv1757379,nssv1757424,nssv1757392,nssv1757426,nssv1757385,nssv1757419,nssv1757390,nssv1757429,nssv1757375,nssv1757451,nssv1757395,nssv1757413,nssv1757365,nssv1757455,nssv1757440,nssv1757457,nssv1757376,nssv1757431,nssv1757398,nssv1757456,nssv1757361,nssv1757399,nssv1757396,nssv1757416,nssv1757397,nssv1757410,nssv1757386,nssv1757434,nssv1757369,nssv1757435,nssv1757374,nssv1757412,nssv1757444,nssv1757406,nssv1757382,nssv1757417,nssv1757445,nssv1757430,nssv1757439,nssv1757453,nssv1757373,nssv1757422,nssv1757366,nssv1757408,nssv1757443,nssv1757432,nssv1757441,nssv1757450,nssv1757380,nssv1757437,nssv1757368,nssv1757433,nssv1757377,nssv1757421,nssv1757367,nssv1757401,nssv1757383,nssv1757418,nssv1757381,nssv1757402,nssv1757387,nssv1757404,nssv1757388,nssv1757449,nssv1757393,nssv1757452,nssv1757394,nssv1757448,nssv1757391,nssv1757427,nssv1757438,nssv1757423,nssv1757400 M 97 10 0 PUM1,SNORD103A,SNORD103B HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6331579 1 31427900 31429309 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060354 M 19652 0 1 PUM1 dgv146n223 1 31428314 31429175 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6547306,nsv6535964 M 19652 0 0 PUM1 esv3585639 1 31428476 31431858 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895554 M 2504 0 1 PUM1 NA19175 nsv5422588 1 31428499 31431866 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901305 M 3202 0 1 PUM1 nsv4560004 1 31432354 31432355 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024563 M 10847 1 0 PUM1 nsv4461121 1 31433459 31433460 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024564 M 10847 1 0 PUM1 nsv5689958 1 31433474 31433474 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17196176 M 3202 1 0 PUM1 nsv5398351 1 31433474 31433525 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901307 M 3202 1 0 PUM1 nsv7701 1 31438858 31468924 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10787 M 9 1 0 PUM1,SNORD85 NA18956 esv3585640 1 31440340 31444092 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895555 M 2504 0 1 PUM1,SNORD85 HG01968 nsv5984008 1 31443481 31443558 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533380 M 405 0 1 PUM1 nsv5406787 1 31444055 31444105 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901308 M 3202 1 0 PUM1 nsv5685860 1 31444105 31444105 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17196766 M 3202 1 0 PUM1 nsv4736889 1 31445106 31445159 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16295352 M 25 0 1 PUM1 nsv3948596 1 31445107 31445168 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181907 M 1 0 1 PUM1 HG002 nsv5568039 1 31445107 31445177 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065021 M 35 0 1 PUM1 HG00731 nsv5552557 1 31445110 31445161 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901309 M 3202 1 0 PUM1 nsv4516996 1 31445110 31445852 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849416 M 10847 0 1 PUM1 dgv171n152 1 31445111 31445183 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3282887,nsv3283013 M 9 0 2 PUM1 HG00733,NA19240 nsv4040040 1 31445111 31445294 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849417 M 10847 0 1 PUM1 nsv5954457 1 31445112 31445112 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353644 M 914 1 0 PUM1 nsv2801918 1 31445118 31445167 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13694053 M 2 0 1 PUM1 nsv3323591 1 31445118 31445167 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14481229,nssv14487774,nssv14491516,nssv14491649,nssv14481869,nssv14472288,nssv14482178,nssv14483253 M 14 0 8 PUM1 CHM1,HG01352,HG02059,HG02106,HG02818,HG04217,NA12878,NA19240 nsv5884088 1 31445144 31445313 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17367088 M 914 0 1 PUM1 nsv5983777 1 31445204 31445314 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533432 M 405 0 1 PUM1 nsv6052539 1 31445225 31445225 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17527866 M 405 1 0 PUM1 nsv6541534 1 31458241 31459077 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252382 M 19652 0 0 PUM1 nsv4045411 1 31460122 31461707 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849418 M 10847 0 1 PUM1 nsv4034303 1 31462859 31739206 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966171 M 10847 1 0 NKAIN1,PUM1,SNRNP40 nsv4570803 1 31464335 31464336 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024565 M 10847 1 0 PUM1 esv3664945 1 31470342 31470342 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487654 M 20 1 0 PUM1 esv2746297 1 31470640 31470815 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6843910,essv6780892,essv6804414,essv6744952,essv6853260,essv6714267 M 96 0 6 PUM1 SSM043,SSM055,SSM068,SSM074,SSM085,SSM087 nsv5870576 1 31470733 31470812 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17364368 M 914 0 1 PUM1 esv3560327 1 31470733 31470813 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759074 M 767 0 1 PUM1 nsv5983917 1 31470733 31470813 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17521368 M 405 0 1 PUM1 nsv4390919 1 31470734 31470813 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15705959 M 174 0 1 PUM1 nsv4051281 1 31470735 31470813 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849419 M 10847 0 1 PUM1 nsv5421089 1 31470735 31470813 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901311 M 3202 0 1 PUM1 nsv506925 1 31471423 31477423 OTHER sequence alteration Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv623266,nssv619230,nssv617528 M 4 0 0 PUM1 CHM,NA10860,NA18994 nsv5423838 1 31474696 31474938 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901312 M 3202 0 1 PUM1 nsv4049499 1 31481903 31482625 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849421 M 10847 0 1 PUM1 nsv4042598 1 31484112 31487704 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849422 M 10847 0 1 PUM1 nsv6544968 1 31487469 31488159 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252383 M 19652 0 0 PUM1 nsv4040531 1 31492503 31492565 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849423 M 10847 0 1 PUM1 nsv6546113 1 31498434 31499107 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252384 M 19652 0 0 PUM1 nsv6321070 1 31501915 31504719 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203573 M 19652 1 0 PUM1 nsv6317796 1 31508519 31512571 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060355 M 19652 0 1 PUM1 nsv4037813 1 31509116 31521483 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849424 M 10847 0 1 PUM1 nsv6318156 1 31509116 31521483 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060356 M 19652 0 1 PUM1 nsv5885417 1 31514380 31515198 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17351679 M 914 0 1 PUM1 esv2661973 1 31514380 31515199 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6459551,essv6366898 M 1151 0 2 PUM1 NA19004,NA19078 nsv5423567 1 31514380 31515199 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901314 M 3202 0 1 PUM1 nsv4390920 1 31514381 31515199 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15706070 M 174 0 1 PUM1 nsv6541305 1 31514981 31515737 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252385 M 19652 0 0 PUM1 nsv4042245 1 31516978 31518359 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966172 M 10847 1 0 PUM1 nsv6551287 1 31517252 31517872 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252386 M 19652 0 0 PUM1 nsv4052221 1 31519651 31519876 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849425 M 10847 0 1 PUM1 nsv5419787 1 31519651 31519876 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901315 M 3202 0 1 PUM1 nsv6542931 1 31520836 31521566 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252387 M 19652 0 0 PUM1 nsv6322621 1 31521441 31524903 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060357 M 19652 0 1 PUM1 nsv5984009 1 31521465 31521548 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527384 M 405 0 1 PUM1 nsv5869325 1 31521945 31522120 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350039 M 914 0 1 PUM1 nsv5424567 1 31521960 31522097 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901316 M 3202 0 1 PUM1 nsv4045779 1 31521960 31522109 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849426 M 10847 0 1 PUM1 nsv6536880 1 31522234 31522886 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252388 M 19652 0 0 PUM1 nsv6318339 1 31522762 31524236 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060358 M 19652 0 1 PUM1 nsv6320107 1 31524309 31529728 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060359 M 19652 0 1 PUM1 nsv5418737 1 31526118 31529892 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901317 M 3202 0 1 PUM1 nsv6543096 1 31526378 31526910 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252389 M 19652 0 0 PUM1 nsv4051426 1 31526723 31529994 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849427 M 10847 0 1 PUM1 nsv6541795 1 31529466 31530133 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252390 M 19652 0 0 PUM1 nsv6537187 1 31532708 31533276 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252391 M 19652 0 0 PUM1 nsv6328714 1 31535715 31537187 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203574 M 19652 1 0 PUM1 nsv4517669 1 31535999 31621000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849428 M 10847 0 1 PUM1 nsv5882167 1 31538336 31538608 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17353164 M 914 0 1 PUM1 nsv6318340 1 31538348 31539047 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060360 M 19652 0 1 PUM1 nsv6544751 1 31541808 31542268 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252392 M 19652 0 0 "" nsv6537388 1 31543733 31544490 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252393 M 19652 0 0 "" nsv4536970 1 31545077 31545078 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024567 M 10847 1 0 "" esv2673927 1 31547341 31550766 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6290330 M 1151 0 1 "" NA18565 esv3585641 1 31547347 31550783 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895558,essv9895557,essv9895556 M 2504 0 3 "" NA18565,NA19072,NA19917 nsv5983778 1 31547370 31550767 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524774 M 405 0 1 "" nsv4033825 1 31547373 31550766 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849429 M 10847 0 1 "" nsv5432158 1 31547373 31550766 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901319 M 3202 0 1 "" nsv5948175 1 31547846 31547846 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17355383 M 914 1 0 "" nsv6549500 1 31547869 31549184 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252394 M 19652 0 0 "" nsv6540902 1 31548010 31548521 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252395 M 19652 0 0 "" nsv5983820 1 31548251 31554287 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528792 M 405 0 1 "" nsv4049481 1 31549508 31552011 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966173 M 10847 1 0 "" nsv4731829 1 31550435 31550524 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289910 M 25 0 1 "" nsv4034304 1 31551242 31557438 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849431 M 10847 0 1 "" nsv6334658 1 31551302 31557440 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060361 M 19652 0 1 "" dgv147n223 1 31551975 31560494 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nsv6334751,nsv6323414 M 19652 2 0 "" dgv50n166 1 31553482 31553540 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4041435,nsv4034104 M 10847 0 2 "" nsv5983821 1 31553493 31553545 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532917 M 405 0 1 "" nsv6541225 1 31554349 31554625 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252396 M 19652 0 0 "" nsv4536016 1 31555697 31555698 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024568 M 10847 1 0 "" nsv508711 1 31558254 31665395 CNV deletion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv618969 M 4 0 1 NKAIN1 NA10860 esv3334030 1 31560067 31560067 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740963 M 185 1 0 "" NA19240 nsv5714842 1 31560450 31560450 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17242373 M 3202 1 0 "" nsv4565507 1 31560450 31560451 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024569 M 10847 1 0 "" nsv5557414 1 31560468 31560484 CNV sva insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901322 M 3202 1 0 "" nsv4571544 1 31565724 31565725 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024570 M 10847 1 0 "" nsv6324024 1 31565987 31570666 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203577 M 19652 1 0 "" nsv5951397 1 31566836 31566836 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17353110 M 914 1 0 "" nsv4046373 1 31567536 31567613 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966174 M 10847 1 0 "" nsv6321101 1 31570835 31571777 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060362 M 19652 0 1 "" nsv4518213 1 31573584 31573642 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849434 M 10847 0 1 "" nsv4036042 1 31574301 31581215 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849435 M 10847 0 1 "" esv21850 1 31574645 31575837 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv11728 M 40 0 1 "" NA12878 esv2677324 1 31574928 31577364 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5989969,essv5616564,essv6553018,essv5483898,essv5721549,essv5975278 M 1151 0 6 "" HG00282,HG00367,HG01080,HG01101,NA11933,NA12413 esv3585642 1 31574934 31577199 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895563,essv9895565,essv9895564,essv9895562,essv9895559,essv9895561,essv9895560 M 2504 0 7 "" HG00362,HG00367,HG01080,HG01101,NA11933,NA12413,NA12878 nsv5424207 1 31575022 31577325 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901323 M 3202 0 1 "" nsv3323592 1 31575047 31577313 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14478193 M 14 0 1 "" NA12878 nsv5873524 1 31575061 31577314 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17350979 M 914 0 1 "" nsv5568240 1 31575065 31577330 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065023 M 35 0 1 "" NA12878 nsv4046913 1 31575066 31577311 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849436 M 10847 0 1 "" nsv6318744 1 31575079 31577311 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060363 M 19652 0 1 "" nsv3049862 1 31575085 31577352 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14028983 M 2 0 1 "" NA12878 nsv5830283 1 31575107 31577370 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457181 M 914 0 0 "" nsv945865 1 31575763 31585742 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757543,nssv1757508,nssv1757460,nssv1757499,nssv1757459,nssv1757520,nssv1757467,nssv1757524,nssv1757468,nssv1757496,nssv1757461,nssv1757501,nssv1757544,nssv1757546,nssv1757489,nssv1757531,nssv1757490,nssv1757514,nssv1757470,nssv1757550,nssv1757486,nssv1757525,nssv1757478,nssv1757518,nssv1757488,nssv1757509,nssv1757475,nssv1757512,nssv1757535,nssv1757497,nssv1757492,nssv1757533,nssv1757476,nssv1757545,nssv1757541,nssv1757500,nssv1757463,nssv1757511,nssv1757466,nssv1757516,nssv1757539,nssv1757504,nssv1757471,nssv1757551,nssv1757494,nssv1757549,nssv1757477,nssv1757506,nssv1757485,nssv1757522,nssv1757473,nssv1757523,nssv1757472,nssv1757534,nssv1757480,nssv1757552,nssv1757542,nssv1757526,nssv1757540,nssv1757517,nssv1757493,nssv1757532,nssv1757458,nssv1757513,nssv1757538,nssv1757528,nssv1757484,nssv1757510,nssv1757479,nssv1757505,nssv1757491,nssv1757502,nssv1757482,nssv1757527,nssv1757464,nssv1757521,nssv1757465,nssv1757548,nssv1757474,nssv1757507,nssv1757537,nssv1757503,nssv1757536,nssv1757554,nssv1757462,nssv1757547,nssv1757487,nssv1757530,nssv1757483,nssv1757529,nssv1757495,nssv1757553,nssv1757481,nssv1757519,nssv1757469,nssv1757498,nssv1757515 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6547708 1 31576760 31577838 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252397 M 19652 0 0 "" nsv6324013 1 31576785 31586010 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060364 M 19652 0 1 "" nsv3053349 1 31576889 31577321 CNV deletion Fan_et_al_2017 28104618 Sequencing nssv14030856 M 2 0 1 "" NA12878 nsv6551209 1 31579453 31580197 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252398 M 19652 0 0 "" nsv5983919 1 31582461 31587940 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525713 M 405 0 1 "" nsv4033488 1 31582461 31588097 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849438 M 10847 0 1 "" nsv4327590 1 31585985 31588722 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789158 M 10847 0 0 "" nsv6552700 1 31585986 31586430 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252399 M 19652 0 0 "" nsv5556799 1 31586010 31588722 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901324 M 3202 0 0 "" nsv5830284 1 31586789 31588728 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453485 M 914 0 0 "" nsv5426458 1 31587040 31590463 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901325 M 3202 0 1 "" esv3664950 1 31587531 31587531 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487659 M 20 1 0 "" nsv3324278 1 31590538 31590538 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478148 M 14 1 0 "" HG01352 nsv4536719 1 31590539 31590540 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024571 M 10847 1 0 "" nsv3324279 1 31590573 31590573 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14482731 M 14 1 0 "" HG00733 nsv5616182 1 31590586 31590586 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064591 M 35 1 0 "" HG00731 nsv6047215 1 31590587 31590587 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524767 M 405 1 0 "" nsv5961187 1 31590588 31590588 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17359673 M 914 1 0 "" nsv4048732 1 31592000 31605000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849439 M 10847 0 1 "" nsv6332156 1 31592269 31604959 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060365 M 19652 0 1 "" nsv5983920 1 31596633 31596769 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532038 M 405 0 1 "" nsv6541748 1 31597218 31598039 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252400 M 19652 0 0 "" nsv6320830 1 31599148 31602747 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060366 M 19652 0 1 "" nsv6549636 1 31603236 31605154 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252401 M 19652 0 0 "" nsv4033886 1 31603535 31603591 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849440 M 10847 0 1 "" nsv6554854 1 31604273 31604488 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252402 M 19652 0 0 "" nsv6318208 1 31604841 31607847 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203578 M 19652 1 0 "" nsv5716212 1 31605358 31605358 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17252953 M 3202 1 0 "" nsv4050033 1 31608000 31656100 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966175 M 10847 1 0 NKAIN1 nsv5871555 1 31610969 31611258 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373295 M 914 0 1 "" esv3671109 1 31611369 31611369 CNV novel sequence insertion Besenbacher_et_al_2015 25597990 Sequencing essv16493202 M 20 1 0 "" nsv6541083 1 31613558 31614021 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252403 M 19652 0 0 "" nsv6316009 1 31614313 31615007 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203579 M 19652 1 0 "" nsv5983779 1 31614404 31614490 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525909 M 405 0 1 "" nsv4049014 1 31616000 31621000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849441 M 10847 0 1 "" nsv6322575 1 31616182 31620774 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203580 M 19652 1 0 "" nsv6330325 1 31616721 31635321 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203581 M 19652 1 0 "" nsv4034012 1 31618386 31624820 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966176 M 10847 1 0 "" nsv6329870 1 31618386 31624820 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203582 M 19652 1 0 "" nsv5419187 1 31618679 31624860 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901328 M 3202 1 0 "" nsv5983822 1 31619356 31619432 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527625 M 405 0 1 "" esv3664969 1 31620962 31620962 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487676 M 20 1 0 "" esv274929 1 31621415 31625389 CNV loss Banerjee_et_al_2011 21479260 SNP array essv2585894 M 1250 0 1 "" dgv148n223 1 31625868 31633042 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nsv6332042,nsv6318209 M 19652 0 2 "" nsv4041553 1 31625868 31633042 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849442 M 10847 0 1 "" nsv6329120 1 31626998 31633779 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203583 M 19652 1 0 "" nsv1076333 1 31627599 31628300 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3767870 M 1 0 1 "" KWP1 nsv3323397 1 31627978 31628040 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14474645 M 14 0 1 "" NA12878 nsv6316288 1 31629220 31641478 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060370 M 19652 0 1 "" nsv6325295 1 31629668 31629971 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060371 M 19652 0 1 "" esv3585643 1 31633156 31634709 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895567,essv9895566,essv9895568 M 2504 0 3 "" HG01067,HG03063,HG03121 nsv4035957 1 31633218 31634753 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849443 M 10847 0 1 "" nsv5422226 1 31633218 31634753 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901329 M 3202 0 1 "" nsv6324371 1 31633218 31634753 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060372 M 19652 0 1 "" nsv6316596 1 31633748 31640147 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203584 M 19652 1 0 "" nsv4040631 1 31635599 31645018 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849444 M 10847 0 1 "" nsv6545153 1 31637416 31638620 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252404 M 19652 0 0 "" nsv5534988 1 31642868 31642908 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901331 M 3202 1 0 "" nsv6546201 1 31644386 31644856 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252405 M 19652 0 0 "" nsv5421271 1 31649230 31649281 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901333 M 3202 0 1 "" nsv5612362 1 31649514 31649514 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064593 M 35 1 0 "" NA19239 nsv5573941 1 31649549 31649676 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064594 M 35 0 1 "" HG02587 nsv5579398 1 31649752 31649878 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064595 M 35 0 1 "" HG00731 nsv3937345 1 31649752 31649879 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15181909 M 1 0 1 "" HG002 nsv4449510 1 31649752 31649879 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15763522 M 1 0 1 "" esv3683308 1 31649752 31649880 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468054 M 20 0 1 "" nsv4744135 1 31649752 31649881 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16262345 M 25 0 1 "" nsv3282761 1 31649758 31649885 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14447076,nssv14393539 M 9 0 2 "" HG00733,NA19240 nsv5983921 1 31649758 31649888 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527871 M 405 0 1 "" nsv2801920 1 31649766 31649892 CNV deletion Huddleston_et_al_2016 27895111 Sequencing nssv13690366 M 2 0 1 "" nsv3324280 1 31649766 31649892 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14486947,nssv14482222,nssv14490156,nssv14474188,nssv14481400,nssv14485751,nssv14489381 M 14 0 7 "" CHM1,HG00733,HG01352,HG02059,HG04217,NA12878,NA19240 nsv4035079 1 31651057 31651124 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849445 M 10847 0 1 "" nsv5983780 1 31665534 31666050 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534828 M 405 0 1 NKAIN1 nsv4048243 1 31668988 31673898 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849446 M 10847 0 1 NKAIN1 nsv4033852 1 31669281 31669416 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849447 M 10847 0 1 NKAIN1 nsv6545551 1 31669343 31670030 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18252406 M 19652 0 0 NKAIN1 nsv6045759 1 31670315 31670315 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531638 M 405 1 0 NKAIN1 nsv5426808 1 31675781 31676069 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901334 M 3202 0 1 NKAIN1 nsv5983781 1 31675786 31676073 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531877 M 405 0 1 NKAIN1 nsv160707 1 31676450 31678169 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179285 M 24 NKAIN1 nsv5983922 1 31676497 31676592 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518862 M 405 0 1 NKAIN1 esv3664980 1 31678460 31678460 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487686 M 20 1 0 NKAIN1 nsv3199146 1 31678605 31678934 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357885,nssv14357883,nssv14357884 M 9 0 3 NKAIN1 HG00512,HG00514,NA19239 nsv1145331 1 31678895 31678953 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982431 M 2 0 1 NKAIN1 KWS1 esv2758930 1 31682380 32466331 CNV loss Redon_et_al_2006 17122850 BAC aCGH,SNP array esv2756841,esv2757728 M 270 0 1 BAI2,COL16A1,FABP3,HCRTR1,LOC149086,LOC284551,MIR4254,NKAIN1,PEF1,PTP4A2,SERINC2,SNRNP40,SPOCD1,TINAGL1,ZCCHC17 NA12865 nsv6333461 1 31684827 31686718 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060373 M 19652 0 1 NKAIN1 nsv4460816 1 31687999 31688000 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024572 M 10847 1 0 NKAIN1 nsv4050944 1 31689571 31690126 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849449 M 10847 0 1 NKAIN1 nsv5545365 1 31690908 31690911 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901335 M 3202 1 0 NKAIN1 nsv5545575 1 31690916 31690967 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901336 M 3202 1 0 NKAIN1 nsv5621850 1 31690918 31690918 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064596 M 35 1 0 NKAIN1 HG03125 esv21860 1 31696905 31697770 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv18661 M 40 0 8 NKAIN1 NA18505,NA18523,NA18861,NA18907,NA18909,NA19129,NA19190,NA19257 nsv6333764 1 31702300 31703764 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060374 M 19652 0 1 NKAIN1 nsv4046080 1 31702301 31703764 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849450 M 10847 0 1 NKAIN1 esv3664986 1 31704935 31704935 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487691 M 20 1 0 NKAIN1 nsv3194789 1 31708108 31729081 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14255467 M 9 0 1 NKAIN1 HG00513 nsv1126190 1 31712300 31713000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3984419 M 2 0 1 NKAIN1 KWS1 nsv1075384 1 31712499 31712900 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772956 M 1 0 1 NKAIN1 KWP1 nsv6538036 1 31715807 31716341 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250204 M 19652 0 0 "" nsv3191597 1 31716277 31724235 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14256408,nssv14256410,nssv14256409 M 9 0 3 "" HG00513,HG00514,NA19238 nsv9990 1 31719976 31723457 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv15765 M 31 0 1 "" NA18537 nsv822231 1 31719980 31721755 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1439453,nssv1438184 M 31 0 2 "" NA18537,NA18592 nsv3202765 1 31720001 31722524 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14357940,nssv14357941 M 9 0 2 "" HG00513,HG00514 nsv5583476 1 31720005 31722522 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064597 M 35 0 1 "" HG00513 nsv5879586 1 31720005 31722523 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17373184 M 914 0 1 "" esv2675442 1 31720005 31722524 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5569678,essv6463579,essv6001994,essv5677622,essv6266268,essv6180601,essv6039771,essv6510404,essv6070226,essv6366445,essv6107527,essv5460942,essv5529735,essv5823307,essv5810995,essv5813839,essv5440032,essv5554478,essv5731252,essv5792824,essv6416132,essv6485384 M 1151 0 22 "" HG00513,HG00543,HG00595,HG00611,HG00625,HG00689,NA18537,NA18549,NA18558,NA18561,NA18565,NA18592,NA18599,NA18608,NA18612,NA18618,NA18621,NA18941,NA18943,NA18953,NA18981,NA19081 nsv6325379 1 31720005 31722524 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060375 M 19652 0 1 "" nsv3175108 1 31720006 31722523 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14420830 M 9 0 0 "" HG00514 nsv4740791 1 31720006 31722524 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16282272 M 25 0 1 "" nsv5983782 1 31720007 31722524 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524611 M 405 0 1 "" esv3585644 1 31720009 31722557 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895579,essv9895593,essv9895577,essv9895590,essv9895569,essv9895581,essv9895582,essv9895578,essv9895592,essv9895580,essv9895586,essv9895570,essv9895589,essv9895576,essv9895584,essv9895574,essv9895583,essv9895572,essv9895588,essv9895575,essv9895591,essv9895573,essv9895587,essv9895571,essv9895585,essv9895594,essv9895597,essv9895600,essv9895602,essv9895595,essv9895598,essv9895606,essv9895607,essv9895609,essv9895605,essv9895603,essv9895611,essv9895610,essv9895599,essv9895604,essv9895608,essv9895601,essv9895596,essv9895612 M 2504 0 44 "" HG00410,HG00513,HG00543,HG00595,HG00598,HG00611,HG00625,HG00674,HG00689,HG01028,HG01029,HG01596,HG01598,HG01817,HG01848,HG01851,HG01860,HG01870,HG02031,HG02048,HG02067,HG02179,HG02380,HG02391,HG02731,HG04152,NA18537,NA18549,NA18558,NA18561,NA18565,NA18592,NA18599,NA18608,NA18612,NA18618,NA18621,NA18941,NA18943,NA18946,NA18953,NA18979,NA19081,NA19089 nsv3324281 1 31720010 31722528 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14482842 M 14 0 1 "" HG00514 nsv4041473 1 31720011 31722524 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849451 M 10847 0 1 "" nsv5429173 1 31720011 31722524 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901337 M 3202 0 1 "" nsv5829689 1 31720036 31722535 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17449718 M 914 0 0 "" esv2746308 1 31720136 31722531 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6729645,essv6877031,essv6695809 M 96 0 3 "" SSM006,SSM012,SSM047 nsv3324541 1 31721613 31721671 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14491435 M 14 0 1 "" HG00514 nsv3323593 1 31722060 31722112 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14483195 M 14 0 1 "" HG00514 nsv3323398 1 31722239 31722311 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14472867 M 14 0 1 "" HG00514 nsv3324542 1 31722543 31722602 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14473562 M 14 0 1 "" HG00514 nsv3324543 1 31723112 31723252 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14479419 M 14 0 1 "" HG00514 nsv4751994 1 31724839 31724839 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16282103 M 25 1 0 "" nsv5605352 1 31724865 31724865 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064598 M 35 1 0 "" HG00512 nsv3324282 1 31724872 31724872 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484166,nssv14477657 M 14 2 0 "" HG00514,NA19240 nsv3540811 1 31724879 31724879 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440567 M 9 1 0 "" HG00733 nsv3926280 1 31724879 31724879 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192385 M 1 1 0 "" HG002 nsv5623492 1 31724879 31724879 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064599 M 35 1 0 "" HG00731 nsv6059033 1 31724879 31724879 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517935 M 405 1 0 "" nsv5872377 1 31724879 31724930 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17378720 M 914 1 0 "" nsv1116594 1 31724888 31724986 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3979117,nssv3987949 M 2 2 0 "" KWS1,KWS2 esv1672561 1 31724900 31724900 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3730001 M 2 1 0 "" HuRef nsv3541233 1 31724912 31724912 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413543 M 9 1 0 "" HG00514 nsv6051648 1 31724995 31724995 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519037 M 405 1 0 "" nsv5983823 1 31725692 31727229 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17536616 M 405 1 0 "" nsv4037249 1 31725823 31727366 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966177 M 10847 1 0 "" nsv5431797 1 31725828 31727366 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901338 M 3202 1 0 "" nsv5880529 1 31725844 31727365 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17374031 M 914 1 0 "" nsv6323210 1 31725948 31727447 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060376 M 19652 0 1 "" nsv6326940 1 31727993 31732488 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060377 M 19652 0 1 SNRNP40 nsv5429387 1 31729014 31729087 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901339 M 3202 1 0 "" nsv161067 1 31731974 31741142 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179645 M 24 SNRNP40 nsv6241444 1 31733307 31733307 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17846036 M 1021 1 0 SNRNP40 esv3585645 1 31733410 31733889 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895613,essv9895614,essv9895615 M 2504 0 3 SNRNP40 HG00253,HG01372,NA20511 nsv5878561 1 31733471 31733949 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381301 M 914 0 1 SNRNP40 nsv5423220 1 31733471 31733950 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901341 M 3202 0 1 SNRNP40 nsv6325020 1 31733471 31733950 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060378 M 19652 0 1 SNRNP40 nsv4048290 1 31733490 31733914 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849452 M 10847 0 1 SNRNP40 nsv10051 1 31734285 31737169 CNV gain Perry_et_al_2008 18304495 Oligo aCGH nssv16093 M 31 1 0 SNRNP40 NA18504 nsv5428288 1 31740358 31740423 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901342 M 3202 0 1 SNRNP40 nsv4049990 1 31740626 31740731 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966178 M 10847 1 0 SNRNP40 nsv5983923 1 31742643 31742981 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522430 M 405 0 1 SNRNP40 nsv4460817 1 31747897 31747898 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024573 M 10847 1 0 SNRNP40 nsv6042177 1 31748153 31748153 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533510 M 405 1 0 SNRNP40 nsv6542694 1 31749652 31750662 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250205 M 19652 0 0 SNRNP40 nsv4461873 1 31751889 31751890 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024574 M 10847 1 0 SNRNP40 nsv5624114 1 31751896 31751896 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064600 M 35 1 0 SNRNP40 HG02011 nsv5688841 1 31751904 31751904 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205746,nssv17196499 M 3202 2 0 SNRNP40 nsv5397470 1 31751904 31751955 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901344 M 3202 1 0 SNRNP40 nsv4460818 1 31752287 31752288 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024576 M 10847 1 0 SNRNP40 nsv6537712 1 31752749 31753244 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250206 M 19652 0 0 SNRNP40 dgv173n152 1 31752806 31753136 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3205693,nsv3526127 M 9 0 9 SNRNP40 HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 esv3683316 1 31755313 31755426 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468061 M 20 0 1 SNRNP40 nsv4046771 1 31756794 31757037 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849453 M 10847 0 1 SNRNP40 nsv6555547 1 31756959 31757152 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250207 M 19652 0 0 SNRNP40 nsv471842 1 31757983 31757983 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019416 M 9 1 0 SNRNP40 NA18555 nsv6320469 1 31759271 31762096 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060380 M 19652 0 1 SNRNP40 nsv4042154 1 31759669 31831652 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966179 M 10847 1 0 SNRNP40,ZCCHC17 nsv6328779 1 31761805 31777639 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060381 M 19652 0 1 SNRNP40,ZCCHC17 nsv4461351 1 31763026 31763027 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024577 M 10847 1 0 SNRNP40 nsv6057494 1 31763028 31763028 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526155 M 405 1 0 SNRNP40 nsv5830285 1 31763983 31764982 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459757 M 914 0 0 SNRNP40 nsv6321077 1 31771125 31772794 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060382 M 19652 0 1 ZCCHC17 esv3585647 1 31778229 31780517 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895649 M 2504 0 1 ZCCHC17 HG02050 nsv5433608 1 31778326 31780611 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901345 M 3202 0 1 ZCCHC17 nsv4460819 1 31783783 31783784 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024578 M 10847 1 0 ZCCHC17 nsv5690049 1 31786577 31786577 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17194824 M 3202 1 0 ZCCHC17 nsv6330545 1 31790880 31791437 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060383 M 19652 0 1 ZCCHC17 nsv4044213 1 31791992 31796120 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966180 M 10847 1 0 ZCCHC17 nsv6321881 1 31795599 31796199 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060384 M 19652 0 1 ZCCHC17 nsv4050228 1 31797867 31809020 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849454 M 10847 0 1 ZCCHC17 esv3585648 1 31801550 31806582 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895650 M 2504 0 1 ZCCHC17 NA19922 nsv5433352 1 31801593 31806559 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901347 M 3202 0 1 ZCCHC17 nsv4741323 1 31807159 31807219 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16269610 M 25 0 1 ZCCHC17 nsv5829690 1 31807619 31809148 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17464727 M 914 0 0 ZCCHC17 nsv5885732 1 31807641 31809125 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17388214 M 914 0 1 ZCCHC17 nsv4461352 1 31809876 31809877 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024579 M 10847 1 0 ZCCHC17 nsv6334122 1 31810074 31828934 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060385 M 19652 0 1 ZCCHC17 nsv3561657 1 31818393 31818393 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358632,nssv14358633,nssv14358634,nssv14358635 M 9 4 0 ZCCHC17 HG00513,HG00731,HG00732,HG00733 nsv5618409 1 31818393 31818393 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064601 M 35 1 0 ZCCHC17 HG00731 nsv3946395 1 31818394 31818394 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192386 M 1 1 0 ZCCHC17 HG002 nsv4445134 1 31818394 31818394 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15763526 M 1 1 0 ZCCHC17 nsv5955118 1 31818394 31818394 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17381260 M 914 1 0 ZCCHC17 nsv6047050 1 31818394 31818394 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530911 M 405 1 0 ZCCHC17 nsv4535995 1 31818394 31818395 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16024580 M 10847 1 0 ZCCHC17 nsv2801829 1 31818395 31818395 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13690761 M 2 1 0 ZCCHC17 nsv2801921 1 31818401 31818401 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13689188 M 2 1 0 ZCCHC17 nsv3323594 1 31818401 31818401 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14474384,nssv14472618,nssv14488443,nssv14491436,nssv14480300,nssv14475016,nssv14479693,nssv14479305,nssv14480740,nssv14473070,nssv14472792 M 14 11 0 ZCCHC17 CHM1,CHM13,HG00268,HG00514,HG00733,HG02059,HG02106,HG04217,HX1,NA19240,NA19434 nsv4766113 1 31818404 31818404 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16268721 M 25 1 0 ZCCHC17 nsv4033495 1 31818405 31818570 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849455 M 10847 0 1 ZCCHC17 nsv3538742 1 31818406 31818406 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440568,nssv14413544,nssv14391547 M 9 3 0 ZCCHC17 HG00514,HG00733,NA19240 esv1665695 1 31818409 31818409 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3776205 M 2 1 0 ZCCHC17 HuRef nsv5607692 1 31818414 31818414 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064602 M 35 1 0 ZCCHC17 NA19239 nsv3064117 1 31818415 31818415 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14037097 M 2 1 0 ZCCHC17 NA12878 nsv5538649 1 31818429 31818445 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901349 M 3202 1 0 ZCCHC17 nsv5878007 1 31822739 31835071 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17379265 M 914 1 0 ZCCHC17 nsv5829985 1 31822766 31834385 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469533 M 914 0 0 ZCCHC17 nsv4757487 1 31825083 31825083 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16259219 M 25 1 0 ZCCHC17 nsv4038378 1 31832905 31877935 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966181 M 10847 1 0 FABP3,ZCCHC17 nsv5884297 1 31832930 31833119 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17377778 M 914 0 1 ZCCHC17 nsv1118432 1 31838700 31845300 CNV duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3958938 M 2 1 0 FABP3 KWS1 esv1003353 1 31842502 31849609 CNV deletion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564863 M 3 0 1 FABP3 HuRef nsv4518019 1 31851551 31851618 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849457 M 10847 0 1 "" esv3577802 1 31852867 31921862 CNV loss Uddin_et_al_2014 25503493 SNP array essv9834755 M 873 0 1 SERINC2 401311GL nsv520589 1 31855474 31857998 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv697507 M 2026 0 1 "" esv1538435 1 31859773 31860147 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3880925 M 2 0 1 "" HuRef nsv3324544 1 31859796 31859796 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479842 M 14 1 0 "" HG00268 esv2746319 1 31860066 31860575 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6679186,essv6941805,essv6836204 M 96 0 3 "" SSM023,SSM033,SSM083 nsv3324545 1 31860214 31860321 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14485886 M 14 0 1 "" HG00514 nsv3282673 1 31860214 31860322 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14419238 M 9 0 1 "" HG00514 nsv5576085 1 31860234 31860341 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064603 M 35 0 1 "" HG00512 nsv5983783 1 31860239 31860346 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535397 M 405 0 1 "" nsv4744409 1 31860239 31860347 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16279485 M 25 0 1 "" esv2746330 1 31860392 31860708 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6889017,essv6703879,essv6892333,essv6697000,essv6902557,essv6669388,essv6776956,essv6725861,essv6967953,essv6921743,essv6750622,essv6929077,essv6733497,essv6714268,essv6744953,essv6863973,essv6769544,essv6961585,essv6801633,essv6950583 M 96 0 20 "" SSM005,SSM013,SSM018,SSM020,SSM025,SSM027,SSM028,SSM038,SSM040,SSM043,SSM046,SSM049,SSM055,SSM057,SSM065,SSM067,SSM073,SSM089,SSM097,SSM098 nsv4045695 1 31866321 31872223 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849458 M 10847 0 1 "" nsv6328203 1 31866332 31872173 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060386 M 19652 0 1 "" esv3585649 1 31870775 31872797 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895651 M 2504 0 1 "" HG01773 nsv950383 1 31880701 31884500 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997117 M 1 0 1 SERINC2 BILGI_BIOE nsv5984010 1 31884096 31890132 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525671 M 405 0 1 SERINC2 nsv4046544 1 31887294 31887775 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849459 M 10847 0 1 SERINC2 nsv7712 1 31887408 31915698 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv5468,nssv6532,nssv1039,nssv4085 M 9 4 0 SERINC2 NA12156,NA12878,NA19129,NA19240 nsv6322669 1 31889636 31916372 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203585 M 19652 1 0 SERINC2 nsv6329667 1 31890248 31893447 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060387 M 19652 0 1 SERINC2 nsv509135 1 31893418 31945071 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv621091,nssv619787 M 4 2 0 SERINC2 NA10860,NA15510 nsv3212368 1 31899590 31933646 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14262266,nssv14262268,nssv14262265,nssv14262273,nssv14262271,nssv14262269,nssv14262270 M 9 7 0 SERINC2 HG00512,HG00513,HG00731,HG00732,HG00733,NA19238,NA19240 nsv3542598 1 31902483 31902483 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440569,nssv14413546 M 9 2 0 SERINC2 HG00514,HG00733 esv1004118 1 31903457 31904728 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3564081 M 3 1 0 SERINC2 HuRef dgv174n152 1 31903601 31906986 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3178252,nsv3182968 M 9 0 0 SERINC2 HG00733,NA19240 nsv5983824 1 31903934 31903988 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535973 M 405 0 1 SERINC2 esv2746341 1 31904404 31905187 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6946514,essv6821197,essv6707280,essv6780893,essv6789174,essv6725862,essv6668978,essv6967954,essv6925709,essv6929078,essv6961586,essv6692791 M 96 0 12 SERINC2 SSM019,SSM020,SSM024,SSM027,SSM028,SSM031,SSM037,SSM041,SSM046,SSM068,SSM070,SSM079 esv21814 1 31904565 31905074 CNV gain Conrad_et_al_2009 19812545 Oligo aCGH esv12924 M 40 2 0 SERINC2 NA12156,NA12287 nsv5983924 1 31904596 31905078 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17520047 M 405 1 0 SERINC2 nsv3531936 1 31904598 31904598 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440572 M 9 1 0 SERINC2 HG00733 nsv3525637 1 31904598 31905097 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358662,nssv14358659,nssv14358660,nssv14358661 M 9 4 0 SERINC2 HG00513,HG00731,HG00732,HG00733 nsv3953608 1 31904623 31904623 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192387 M 1 1 0 SERINC2 HG002 nsv5607149 1 31904623 31904623 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064605,nssv17064604 M 35 1 0 SERINC2 HG00512 nsv5616870 1 31904624 31904624 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064606 M 35 1 0 SERINC2 HG00731 nsv3053582 1 31904626 31904626 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14027378 M 2 1 0 SERINC2 NA12878 nsv3281089 1 31904631 31904793 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14419952 M 9 0 1 SERINC2 HG00514 nsv5881167 1 31904632 31904757 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387547 M 914 0 1 SERINC2 nsv2802089 1 31904642 31904642 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680370 M 2 1 0 SERINC2 nsv3323595 1 31904653 31904653 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477720,nssv14485641,nssv14475262 M 14 3 0 SERINC2 CHM1,HG00268,HG01352 nsv6043885 1 31904667 31904667 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17532579 M 405 1 0 SERINC2 nsv3323399 1 31904710 31904710 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490193 M 14 1 0 SERINC2 HG01352 nsv3949745 1 31904714 31904714 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192388 M 1 1 0 SERINC2 HG002 nsv3323596 1 31904725 31904725 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14473448,nssv14478802,nssv14486644,nssv14482485,nssv14490769,nssv14479625 M 14 6 0 SERINC2 HG00514,HG01352,HG02059,HG02106,HG02818,NA19240 nsv5623885 1 31904732 31904732 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064607 M 35 1 0 SERINC2 HG00731 nsv3323597 1 31904742 31904742 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14478916,nssv14477245,nssv14473390,nssv14485127,nssv14489881,nssv14478345,nssv14477022,nssv14474423,nssv14488106 M 14 9 0 SERINC2 CHM1,CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,NA19240 nsv2801830 1 31904761 31904761 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13680283 M 2 1 0 SERINC2 nsv5983784 1 31904763 31904824 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17533559 M 405 0 1 SERINC2 nsv2801184 1 31904765 31904765 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13676890 M 2 1 0 SERINC2 nsv3323598 1 31904765 31904765 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481002,nssv14477374,nssv14480681,nssv14483677,nssv14488057,nssv14472492,nssv14479194,nssv14478711 M 14 8 0 SERINC2 CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,NA19240 nsv3324283 1 31904769 31904769 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484683,nssv14475932,nssv14486201,nssv14479563,nssv14481469 M 14 5 0 SERINC2 HG00268,HG00514,HG02106,HG02818,NA19240 nsv5616623 1 31904777 31904777 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064608 M 35 1 0 SERINC2 NA12878 nsv3530670 1 31904794 31904794 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413547 M 9 1 0 SERINC2 HG00514 nsv2801185 1 31904797 31904797 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13682847 M 2 1 0 SERINC2 nsv3324284 1 31904797 31904797 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480688,nssv14480901,nssv14485089,nssv14478337,nssv14480090,nssv14479175,nssv14475355 M 14 7 0 SERINC2 CHM13,HG00268,HG01352,HG02059,HG02106,HG02818,NA19240 esv1133300 1 31904834 31904834 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3979486 M 2 1 0 SERINC2 HuRef nsv2801831 1 31904851 31904851 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686475 M 2 1 0 SERINC2 nsv3323599 1 31904859 31904859 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14484541,nssv14478638,nssv14489764 M 14 3 0 SERINC2 CHM1,HG00268,NA19240 nsv3065752 1 31904875 31904875 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14016379 M 2 1 0 SERINC2 CHM1 nsv5608422 1 31904876 31904876 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064609 M 35 1 0 SERINC2 HG03371 esv2746352 1 31904877 31905061 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6707280 M 96 0 1 SERINC2 SSM041 nsv3323600 1 31904930 31904930 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14487625,nssv14472498,nssv14488931,nssv14487250 M 14 4 0 SERINC2 CHM1,HG00514,HG02106,HG02818 nsv5615608 1 31904930 31904930 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064610 M 35 1 0 SERINC2 HG00513 nsv2801922 1 31904931 31904931 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13691507 M 2 1 0 SERINC2 nsv3056160 1 31904932 31904932 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14021755 M 2 1 0 SERINC2 NA12878 nsv3931992 1 31904967 31904967 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192389 M 1 1 0 SERINC2 HG002 nsv5429455 1 31904970 31905079 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901274 M 3202 1 0 SERINC2 nsv2802090 1 31904977 31904977 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13686086 M 2 1 0 SERINC2 nsv3324285 1 31904977 31904977 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14490441,nssv14486815,nssv14487110,nssv14489701,nssv14472324,nssv14475022,nssv14489078,nssv14484120 M 14 8 0 SERINC2 CHM13,HG00268,HG00514,HG01352,HG02059,HG02106,HG02818,NA19240 esv1676191 1 31904984 31904984 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3990095 M 2 1 0 SERINC2 HuRef nsv3324286 1 31904984 31904984 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475936 M 14 1 0 SERINC2 HG00268 nsv5612236 1 31904985 31904985 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065106 M 35 1 0 SERINC2 NA12329 nsv5621317 1 31904989 31904989 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065107 M 35 1 0 SERINC2 HG00731 nsv5606107 1 31904994 31904994 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065108 M 35 1 0 SERINC2 HG00731 nsv6042100 1 31904994 31904994 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17523506 M 405 1 0 SERINC2 nsv3950418 1 31905003 31905003 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192390 M 1 1 0 SERINC2 HG002 nsv2801923 1 31905004 31905004 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683187 M 2 1 0 SERINC2 nsv2802091 1 31905022 31905022 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13679986 M 2 1 0 SERINC2 nsv3324546 1 31905022 31905022 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14483008,nssv14475759,nssv14485302,nssv14490655,nssv14477756,nssv14483177,nssv14485049 M 14 7 0 SERINC2 CHM1,CHM13,HG00514,HG01352,HG02059,HG02818,NA19240 nsv6316446 1 31910648 31915093 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203586 M 19652 1 0 "" nsv4034971 1 31910766 31914102 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849460 M 10847 0 1 "" nsv6322060 1 31910769 31914102 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060388 M 19652 0 1 "" esv3665005 1 31916253 31916253 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487708 M 20 1 0 "" nsv6329594 1 31920556 31922012 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060389 M 19652 0 1 "" nsv4047062 1 31924020 32010257 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849461 M 10847 0 1 LOC149086,LOC284551 nsv5409691 1 31924157 31924157 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901275 M 3202 1 0 "" nsv4460820 1 31924157 31924158 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023448 M 10847 1 0 "" nsv5685329 1 31924174 31924174 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205747,nssv17196571 M 3202 2 0 "" nsv6551807 1 31929372 31937149 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250208 M 19652 0 0 "" nsv5426566 1 31930046 31930565 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901277 M 3202 0 1 "" nsv480863 1 31936535 31936535 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019896 M 9 0 0 "" nsv4568548 1 31946320 31946321 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023449 M 10847 1 0 "" esv3665010 1 31947445 31947445 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487712 M 20 1 0 "" nsv5830286 1 31954047 31958664 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459074 M 914 0 0 "" nsv5881491 1 31954095 31958658 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382464 M 914 0 1 "" nsv5983825 1 31954095 31958659 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518676 M 405 0 1 "" nsv5422988 1 31954096 31958659 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901278 M 3202 0 1 "" nsv4040910 1 31954096 31958665 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849462 M 10847 0 1 "" nsv4038419 1 31958000 31971000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849463 M 10847 0 1 "" nsv6334518 1 31958571 31960195 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060390 M 19652 0 1 "" nsv945867 1 31958992 31961183 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757959,nssv1757560,nssv1757958,nssv1757951,nssv1757960,nssv1757561,nssv1757621,nssv1757559,nssv1757624,nssv1757568,nssv1757610,nssv1757567,nssv1757628,nssv1757636,nssv1757603,nssv1757585,nssv1757613,nssv1757576,nssv1757608,nssv1757571,nssv1757627,nssv1757558,nssv1757596,nssv1757578,nssv1757619,nssv1757574,nssv1757629,nssv1757637,nssv1757607,nssv1757575,nssv1757630,nssv1757595,nssv1757612,nssv1757639,nssv1757620,nssv1757584,nssv1757625,nssv1757952,nssv1757598,nssv1757591,nssv1757953,nssv1757587,nssv1757601,nssv1757635,nssv1757631,nssv1757949,nssv1757615,nssv1757573,nssv1757634,nssv1757579,nssv1757954,nssv1757583,nssv1757614,nssv1757594,nssv1757632,nssv1757566,nssv1757616,nssv1757572,nssv1757602,nssv1757582,nssv1757597,nssv1757577,nssv1757618,nssv1757570,nssv1757956,nssv1757586,nssv1757604,nssv1757563,nssv1757599,nssv1757592,nssv1757957,nssv1757638,nssv1757611,nssv1757948,nssv1757623,nssv1757950,nssv1757600,nssv1757562,nssv1757609,nssv1757580,nssv1757617,nssv1757581,nssv1757622,nssv1757588,nssv1757606,nssv1757565,nssv1757955,nssv1757590,nssv1757626,nssv1757569,nssv1757633,nssv1757564,nssv1757961,nssv1757593,nssv1757605,nssv1757589,nssv1757962 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv509147 1 31960623 31992675 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv617992,nssv621092,nssv619788,nssv623780 M 4 4 0 LOC149086,LOC284551 CHM,NA10860,NA15510,NA18994 nsv7723 1 31962212 31993349 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv2021,nssv4095,nssv1048,nssv10798,nssv6542,nssv5475 M 9 6 0 LOC149086,LOC284551 NA12156,NA12878,NA18555,NA18956,NA19129,NA19240 nsv5416029 1 31962695 31962930 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901280 M 3202 0 1 "" esv3585650 1 31963398 31971364 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895665,essv9895652,essv9895666,essv9895653,essv9895664,essv9895660,essv9895658,essv9895667,essv9895656,essv9895663,essv9895654,essv9895662,essv9895655,essv9895661,essv9895659,essv9895657 M 2504 0 16 "" HG01880,HG02282,HG02496,HG02722,HG02768,HG03039,HG03069,HG03074,HG03539,NA19025,NA19038,NA19374,NA19375,NA19390,NA19454,NA19457 nsv5886474 1 31963495 31971541 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384326 M 914 0 1 "" nsv5426801 1 31963497 31971541 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901281 M 3202 0 1 "" nsv5829986 1 31963521 31971541 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458507 M 914 0 0 "" nsv6322781 1 31963548 31967652 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060391 M 19652 0 1 "" nsv6318650 1 31963548 31971541 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060392 M 19652 0 1 "" nsv4042490 1 31964742 31970956 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849464 M 10847 0 1 "" esv1008042 1 31966272 31989218 CNV insertion Pang_et_al_2010 20482838 Oligo aCGH,Sequencing,SNP array essv3565286 M 3 1 0 LOC149086,LOC284551 HuRef nsv4445135 1 31967617 31967617 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766689 M 1 1 0 "" nsv6047623 1 31967622 31967622 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17533208 M 405 1 0 "" nsv4750435 1 31967636 31967636 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16265301 M 25 1 0 "" nsv6059695 1 31967652 31967652 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529975 M 405 1 0 "" nsv3323601 1 31967653 31967755 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14484560,nssv14476523,nssv14489468 M 14 0 3 "" HG02059,NA19240,NA19434 nsv5872518 1 31967673 31967806 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17387024 M 914 0 1 "" nsv3324547 1 31967707 31967707 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14488865 M 14 1 0 "" HG02106 esv1047143 1 31967819 31967819 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3825409 M 2 1 0 "" HuRef dgv175n152 1 31968049 31968246 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3207863,nsv3197388 M 9 0 2 "" NA19239,NA19240 esv2559743 1 31971485 31993630 OTHER inversion McKernan_et_al_2009 19546169 Sequencing essv5234776 M 1 0 0 LOC149086,LOC284551 NA18507 nsv4757060 1 31971538 31971538 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16275066 M 25 1 0 "" nsv3925014 1 31971541 31971541 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192392 M 1 1 0 "" HG002 nsv4445136 1 31971541 31971541 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759261 M 1 1 0 "" esv3674795 1 31971541 31971542 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496519 M 20 0 0 "" esv1513298 1 31971544 31971544 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3602292 M 2 1 0 "" HuRef nsv4050372 1 31980216 31982690 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849465 M 10847 0 1 "" nsv5606282 1 31981692 31981692 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065116 M 35 1 0 "" HG00732 nsv2802093 1 31981707 31981707 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683001 M 2 1 0 "" nsv3323401 1 31981707 31981707 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14480321 M 14 1 0 "" CHM1 nsv3065753 1 31981712 31981712 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14037673 M 2 1 0 "" CHM1 nsv6048810 1 31981734 31981734 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17536776 M 405 1 0 "" nsv4045744 1 31982916 31982989 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849466 M 10847 0 1 "" nsv6329490 1 31990007 31995354 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060396 M 19652 0 1 "" nsv4045600 1 31995247 31995321 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849467 M 10847 0 1 "" nsv5424655 1 31996421 32001612 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901284 M 3202 0 1 "" nsv4461353 1 31998254 31998255 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023450 M 10847 1 0 "" nsv7734 1 32000739 32030393 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv6550 M 9 1 0 "" NA12156 nsv4562994 1 32004296 32004297 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023451 M 10847 1 0 "" nsv4564399 1 32004337 32004338 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023452 M 10847 1 0 "" nsv5714840 1 32004351 32004351 CNV line1 insertion Chuang_et_al_2021 34772701 Sequencing nssv17239854 M 3202 1 0 "" nsv5562720 1 32004351 32004402 CNV line1 insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901287 M 3202 1 0 "" nsv3209473 1 32011131 32011195 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358720 M 9 0 1 "" NA19238 nsv5983826 1 32011134 32011199 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522950 M 405 0 1 "" nsv5579001 1 32011182 32011253 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065117 M 35 0 1 "" NA19238 esv2746364 1 32011534 32012283 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6885994,essv6703880,essv6839993,essv6868728,essv6853261,essv6785010,essv6686166,essv6725863,essv6789175,essv6675217,essv6972383,essv6929079,essv6954772,essv6877043,essv6917454,essv6961587,essv6950396,essv6859208,essv6759066,essv6950585,essv6847044 M 96 0 21 "" SSM004,SSM012,SSM017,SSM020,SSM025,SSM026,SSM027,SSM029,SSM032,SSM035,SSM040,SSM046,SSM061,SSM069,SSM070,SSM084,SSM086,SSM087,SSM088,SSM090,SSM096 esv4808 1 32011724 32012238 CNV loss Wang_et_al_2008 18987735 Sequencing essv27249 M 1 0 1 "" YH nsv6041836 1 32011757 32011757 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517539 M 405 1 0 "" nsv4742740 1 32011798 32011868 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16292342 M 25 0 1 "" esv2677626 1 32011912 32012061 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6437530,essv6458853,essv5467725,essv5582076,essv5644708,essv5666078,essv5832011,essv5630479,essv5751089,essv5504599,essv5973198,essv5741292,essv6377803,essv6012785,essv5772641,essv6039670,essv6129896,essv5675212,essv6405605,essv5430548,essv5426199,essv6198195,essv5555784,essv6329160,essv5717832,essv6410198,essv5948028,essv6186916,essv6374615,essv6524583,essv5869805,essv6248907,essv5881747,essv5684561,essv6305618,essv5888471,essv6535292,essv6037487,essv6274622,essv6222665,essv5447905,essv5805406 M 1151 0 42 "" HG00246,HG00271,HG00320,HG00443,HG00464,HG00475,HG00479,HG00500,HG00501,HG00512,HG00531,HG00533,HG00534,HG00556,HG00581,HG00583,HG00589,HG00608,HG00619,HG00650,HG00654,HG00657,HG00662,HG00671,HG00684,HG00692,HG00701,HG00707,HG00708,HG01069,NA18530,NA18543,NA18549,NA18550,NA18557,NA18570,NA18621,NA18623,NA19138,NA19381,NA19391,NA19398 dgv15e201 1 32011934 32012143 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2746397,esv2746375 M 96 0 13 "" SSM012,SSM025,SSM026,SSM027,SSM032,SSM035,SSM040,SSM046,SSM069,SSM086,SSM087,SSM088,SSM096 nsv5581554 1 32011939 32011990 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065118 M 35 0 1 "" HG00512 nsv5885035 1 32011941 32011992 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17379649 M 914 0 1 "" nsv5983785 1 32011941 32011992 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536134 M 405 0 1 "" esv2746386 1 32011972 32012070 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6954772,essv6847044 M 96 0 2 "" SSM026,SSM086 nsv5578394 1 32012051 32012125 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065119 M 35 0 1 "" HG03486 nsv4052111 1 32012069 32012123 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849468 M 10847 0 1 "" nsv4461874 1 32019036 32019037 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023454 M 10847 1 0 "" nsv5674945 1 32019052 32019052 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17194854,nssv17205748 M 3202 2 0 "" nsv5396867 1 32019052 32019103 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901290 M 3202 1 0 "" nsv5424319 1 32019251 32019659 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901291 M 3202 0 1 "" nsv4043141 1 32019578 32020104 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849469 M 10847 0 1 "" nsv4461354 1 32021852 32021853 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023455 M 10847 1 0 "" nsv4461122 1 32021898 32021899 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023456 M 10847 1 0 "" nsv4042171 1 32023201 32023531 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849470 M 10847 0 1 "" nsv5419319 1 32025922 32027030 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901915 M 3202 0 1 "" nsv6552384 1 32026488 32027081 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250209 M 19652 0 0 "" nsv1122323 1 32026617 32026670 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970156,nssv3982432 M 2 0 2 "" KWS1,KWS2 nsv6330206 1 32026702 32027901 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060397 M 19652 0 1 "" nsv1137746 1 32026909 32026962 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3985281,nssv3970530 M 2 0 2 "" KWS1,KWS2 esv3665026 1 32027656 32027656 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487727 M 20 1 0 "" nsv1011229 1 32031672 32072406 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472082 M 11257 0 1 TINAGL1 nsv4043324 1 32035307 32035862 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849471 M 10847 0 1 "" nsv950384 1 32036801 32054400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997118 M 1 0 1 TINAGL1 BILGI_BIOE nsv10062 1 32036901 32088982 CNV gain+loss Perry_et_al_2008 18304495 Oligo aCGH nssv14086,nssv15780 M 31 1 1 HCRTR1,TINAGL1 NA18552,NA19221 nsv6320753 1 32043913 32044486 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203587 M 19652 1 0 TINAGL1 dgv16e201 1 32043991 32044768 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2746430,esv2746408 M 96 0 6 TINAGL1 SSM009,SSM043,SSM071,SSM080,SSM088,SSM089 esv2746419 1 32043995 32044245 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6714269 M 96 0 1 TINAGL1 SSM043 dgv176n152 1 32044041 32044207 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nsv3203472,nsv3210342 M 9 0 2 TINAGL1 NA19238,NA19240 dgv17e201 1 32044405 32044807 CNV deletion Wong_et_al_2012b 23290073 Sequencing esv2741429,esv2743254 M 96 0 2 TINAGL1 SSM027,SSM056 nsv5607543 1 32044478 32044478 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065120 M 35 1 0 TINAGL1 HG03125 esv1695245 1 32044544 32044609 CNV deletion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3937819 M 2 0 1 TINAGL1 HuRef esv2746441 1 32045516 32045969 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6748610,essv6910067,essv6714271,essv6789176,essv6824997,essv6961589,essv6954774 M 96 0 7 TINAGL1 SSM008,SSM015,SSM026,SSM027,SSM043,SSM070,SSM080 esv2746452 1 32045760 32045845 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6961589 M 96 0 1 TINAGL1 SSM027 nsv4742634 1 32045770 32045830 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16288069 M 25 0 1 TINAGL1 nsv5983786 1 32045791 32045852 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525258 M 405 0 1 TINAGL1 nsv4735119 1 32055070 32055244 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16269261 M 25 0 1 "" nsv4036913 1 32055469 32060337 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849472 M 10847 0 1 "" nsv6329170 1 32055494 32060337 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060398 M 19652 0 1 "" nsv4046006 1 32055704 32055754 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849473 M 10847 0 1 "" nsv5983787 1 32055882 32055938 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520813 M 405 0 1 "" nsv5983926 1 32058374 32078361 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531333 M 405 0 1 "" nsv3279768 1 32060818 32060878 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14394067 M 9 0 1 "" NA19240 nsv3324548 1 32060819 32060870 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488593 M 14 0 1 "" NA19240 nsv4742755 1 32060823 32060943 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16276148 M 25 0 1 "" nsv5984012 1 32060840 32060946 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527271 M 405 0 1 "" nsv4045861 1 32060843 32061352 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849474 M 10847 0 1 "" nsv5576626 1 32060966 32061017 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065121 M 35 0 1 "" HG03683 nsv5417433 1 32060996 32061055 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901917 M 3202 0 1 "" nsv5688720 1 32061055 32061055 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17195890 M 3202 1 0 "" nsv6241454 1 32061055 32061055 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17846037 M 1021 1 0 "" nsv5689021 1 32061058 32061058 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205749 M 3202 1 0 "" nsv5421946 1 32067044 32067224 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901918 M 3202 1 0 "" nsv5951505 1 32075975 32075975 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17382465 M 914 1 0 "" nsv6324468 1 32076520 32168112 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060399 M 19652 0 1 COL16A1,HCRTR1,PEF1 nsv1000976 1 32078367 32165656 CNV loss Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3464924 M 11257 0 1 COL16A1,HCRTR1,PEF1 esv3348184 1 32081065 32082563 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692295 M 185 1 0 "" NA19239 nsv5422376 1 32082607 32082662 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901919 M 3202 0 1 "" nsv470708 1 32092525 32146764 CNV loss Jakobsson_et_al_2008 18288195 SNP array nssv547721 M 443 0 1 COL16A1,HCRTR1,PEF1 HGDP00546 nsv545951 1 32092525 32165495 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712143 M 17421 1 0 COL16A1,HCRTR1,PEF1 nsv5414080 1 32099309 32099419 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901920 M 3202 0 1 PEF1 nsv4043673 1 32099309 32099420 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849475 M 10847 0 1 PEF1 nsv4560626 1 32104392 32104393 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023457 M 10847 1 0 PEF1 nsv4559385 1 32106678 32106679 CNV line1 insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023458 M 10847 1 0 PEF1 nsv4039788 1 32107000 32116000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966182 M 10847 1 0 PEF1 nsv4044710 1 32108000 32114000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966183 M 10847 1 0 PEF1 nsv545952 1 32114793 32155284 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173809 M 17421 1 0 COL16A1 1780862339_A nsv950385 1 32121101 32266400 CNV deletion Dogan_et_al_2014 24416366 Sequencing nssv2997119 M 1 0 1 BAI2,COL16A1,MIR4254,SPOCD1 BILGI_BIOE nsv472148 1 32130864 32130864 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019968 M 9 1 0 COL16A1 NA18555 nsv818123 1 32133737 32146764 CNV loss Wang_et_al_2007 17921354 SNP array nssv1415933 M 112 0 1 COL16A1 NA12750 nsv528364 1 32146764 32157009 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv704951 M 2026 0 1 COL16A1 nsv6319875 1 32159893 32160302 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060400 M 19652 0 1 COL16A1 nsv461028 1 32165495 32215178 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537481 M 1557 0 1 BAI2,COL16A1 HGDP00433 nsv545953 1 32165495 32215178 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173810 M 17421 0 1 BAI2,COL16A1 HGDP00433 esv3683325 1 32170246 32170299 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468070 M 20 0 1 "" nsv4042049 1 32173481 32173580 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849476 M 10847 0 1 "" esv3382488 1 32173965 32175163 CNV duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8692296 M 185 1 0 "" NA19239 nsv5422633 1 32174282 32174413 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901921 M 3202 1 0 "" nsv5983829 1 32174530 32174652 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530542 M 405 0 1 "" esv3665044 1 32175967 32175967 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487743 M 20 1 0 "" nsv5830288 1 32186464 32187863 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17449873 M 914 0 0 "" esv2660366 1 32186484 32187745 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6420077 M 1151 0 1 "" HG00174 esv3585652 1 32186535 32187858 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9895676,essv9895674,essv9895675 M 2504 0 3 "" HG00174,HG01669,NA12776 nsv4043747 1 32186595 32187846 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849477 M 10847 0 1 "" nsv5428032 1 32186595 32187846 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901922 M 3202 0 1 "" nsv5882740 1 32186602 32187845 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384999 M 914 0 1 "" nsv6324706 1 32186602 32187846 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060401 M 19652 0 1 "" nsv1007786 1 32191161 32296525 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3476019 M 11257 1 0 BAI2,MIR4254,SPOCD1 nsv4033003 1 32192208 32192525 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849478 M 10847 0 1 "" nsv5417964 1 32206587 32206649 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901923 M 3202 0 1 BAI2 nsv5605182 1 32209786 32209786 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064719 M 35 1 0 BAI2 HG03065 nsv6317589 1 32210561 32211677 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060402 M 19652 0 1 BAI2 nsv1007390 1 32223353 32292633 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3700637 M 11257 1 0 BAI2,MIR4254,SPOCD1 nsv1121760 1 32229300 32230000 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3968409 M 2 0 1 BAI2 KWS2 nsv1075387 1 32229699 32230000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770956 M 1 0 1 "" KWP1 nsv3188067 1 32230032 32230526 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440575 M 9 0 0 "" HG00733 nsv3176451 1 32233383 32233843 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14448714 M 9 0 0 "" HG00733 nsv476501 1 32239116 32239116 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3019586 M 9 1 0 "" NA12878 nsv4048310 1 32240405 32240554 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849479 M 10847 0 1 "" nsv4736121 1 32246460 32246597 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16263166 M 25 0 1 "" nsv5983830 1 32246504 32246621 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530928 M 405 0 1 "" nsv5983927 1 32246732 32246866 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17534999 M 405 0 1 "" nsv4043837 1 32250905 32252149 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849480 M 10847 0 1 "" nsv1149238 1 32252087 32252156 CNV insertion John_et_al_2014 26484159 Sequencing nssv4002750 M 1 1 0 "" KWB1 nsv6330048 1 32264763 32289655 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203588 M 19652 1 0 SPOCD1 nsv5545149 1 32266765 32266765 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901925 M 3202 1 0 SPOCD1 nsv5556943 1 32266765 32266769 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901924 M 3202 0 0 SPOCD1 nsv5955946 1 32266766 32266766 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17386495 M 914 1 0 SPOCD1 nsv6324514 1 32266958 32274275 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060404 M 19652 0 1 SPOCD1 nsv4748426 1 32268950 32269011 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259737 M 25 0 1 SPOCD1 nsv5575214 1 32268950 32269011 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064721 M 35 0 1 SPOCD1 HG00864 nsv5878447 1 32268950 32269011 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17370616 M 914 0 1 SPOCD1 esv3560349 1 32268950 32269012 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759096 M 767 0 1 SPOCD1 nsv5984016 1 32268950 32269012 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536141 M 405 0 1 SPOCD1 nsv4039099 1 32268952 32269012 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849481 M 10847 0 1 SPOCD1 nsv5414043 1 32268952 32269012 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901926 M 3202 0 1 SPOCD1 esv2517616 1 32272603 32273628 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5181268 M 1 1 0 SPOCD1 NA18507 nsv4763565 1 32272996 32272996 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16271243 M 25 1 0 SPOCD1 nsv3540297 1 32273001 32273001 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413550 M 9 1 0 SPOCD1 HG00514 nsv3533761 1 32273013 32273013 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387937,nssv14440576 M 9 2 0 SPOCD1 HG00733,NA19240 nsv3951055 1 32273013 32273013 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192393 M 1 1 0 SPOCD1 HG002 nsv4445137 1 32273013 32273013 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15759202 M 1 1 0 SPOCD1 nsv5610083 1 32273013 32273013 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064724,nssv17064723,nssv17064722 M 35 3 0 SPOCD1 HG00512,HG00731,HG00864 nsv2801835 1 32273014 32273014 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678693,nssv13684349 M 2 2 0 SPOCD1 nsv3324554 1 32273014 32273014 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14481429,nssv14488058,nssv14480822,nssv14474334,nssv14489120,nssv14485462,nssv14484473,nssv14479090,nssv14480580,nssv14487145,nssv14489156,nssv14481581,nssv14486662,nssv14481021 M 14 14 0 SPOCD1 CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv6044484 1 32273018 32273018 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17517561 M 405 1 0 SPOCD1 nsv6317948 1 32273859 32275956 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060405 M 19652 0 1 SPOCD1 nsv6544209 1 32276074 32276945 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250210 M 19652 0 0 SPOCD1 nsv822242 1 32280999 32281572 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1431802 M 31 0 1 SPOCD1 AK20 nsv5617666 1 32281376 32281376 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064733 M 35 1 0 SPOCD1 HG00512 nsv5880986 1 32281376 32281445 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17378179 M 914 1 0 SPOCD1 nsv1133129 1 32281376 32281446 CNV tandem duplication Alsmadi_et_al_2014 24896259 Sequencing nssv3987950 M 2 1 0 SPOCD1 KWS1 nsv4517767 1 32281376 32281458 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966184 M 10847 1 0 SPOCD1 nsv6138868 1 32281376 32281458 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901928 M 3202 1 0 SPOCD1 nsv160616 1 32281377 32281377 CNV insertion Mills_et_al_2006 16902084 Sequencing nssv179194 M 24 SPOCD1 esv3303073 1 32281391 32281474 CNV tandem duplication 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7733062,essv7739073,essv7731730,essv7733900 M 185 4 0 SPOCD1 NA18501,NA18943,NA19099,NA19138 nsv3324955 1 32281394 32281394 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485013 M 14 1 0 SPOCD1 HG02059 nsv4758631 1 32281419 32281419 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16272214 M 25 1 0 SPOCD1 nsv6043625 1 32281422 32281422 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17518966 M 405 1 0 SPOCD1 nsv5951643 1 32282721 32282721 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17385724 M 914 1 0 "" nsv6316557 1 32284662 32285192 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060406 M 19652 0 1 "" esv3665054 1 32285015 32285015 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487752 M 20 1 0 "" nsv4534469 1 32285181 32285182 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023459 M 10847 1 0 "" nsv6545854 1 32287651 32288033 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250211 M 19652 0 0 "" nsv6321190 1 32291038 32292088 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060407 M 19652 0 1 "" nsv6241465 1 32293507 32293507 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17846038 M 1021 1 0 "" nsv545954 1 32301518 32343368 CNV gain Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712144 M 17421 1 0 "" nsv6543274 1 32306945 32307641 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250212 M 19652 0 0 "" nsv6334917 1 32307780 32317657 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060408 M 19652 0 1 "" nsv4037284 1 32308856 32308986 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849483 M 10847 0 1 "" nsv4046516 1 32312059 32314971 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849484 M 10847 0 1 "" nsv3176907 1 32315261 32315687 OTHER complex Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440910 M 9 0 0 "" HG00733 nsv4461355 1 32318466 32318467 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023460 M 10847 1 0 "" nsv5542371 1 32318478 32318517 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901932 M 3202 1 0 "" nsv4032626 1 32319412 32319478 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966185 M 10847 1 0 "" nsv6241476 1 32329649 32329649 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17846112 M 1021 1 0 "" nsv4560219 1 32335958 32335959 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023461 M 10847 1 0 "" nsv6324705 1 32336802 32338701 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203590 M 19652 1 0 "" nsv6536100 1 32337161 32338034 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250213 M 19652 0 0 "" nsv6546339 1 32339565 32339883 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250214 M 19652 0 0 "" nsv1009817 1 32341259 32493376 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3468771 M 11257 1 0 KHDRBS1,PTP4A2 nsv3202316 1 32344711 32344808 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358766,nssv14358765 M 9 0 2 "" HG00513,HG00514 nsv6327468 1 32348408 32359406 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060409 M 19652 0 1 "" nsv4044102 1 32349000 32359000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849485 M 10847 0 1 "" nsv6545014 1 32350800 32352081 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250215 M 19652 0 0 "" nsv5424341 1 32352123 32352272 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901934 M 3202 1 0 "" nsv3521924 1 32353559 32353559 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14374078 M 9 1 0 "" NA19240 nsv6535612 1 32353705 32354608 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250216 M 19652 0 0 "" nsv6335170 1 32354637 32366098 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060410 M 19652 0 1 "" nsv4536564 1 32357541 32357542 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023462 M 10847 1 0 "" nsv5681235 1 32357555 32357555 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17196615,nssv17205750 M 3202 2 0 "" nsv5401611 1 32357555 32357606 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901935 M 3202 1 0 "" nsv4042388 1 32357555 32358017 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15849486 M 10847 0 1 "" esv33582 1 32362950 32412126 CNV loss de_Smith_et_al_2007 17666407 Oligo aCGH essv98660 M 51 0 1 PTP4A2 21606 nsv6334412 1 32367598 32370069 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060411 M 19652 0 1 "" nsv3207636 1 32368756 32369252 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359422 M 9 0 1 "" HG00514 esv3665060 1 32368758 32368758 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487758 M 20 1 0 "" nsv5984018 1 32370160 32370246 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531494 M 405 0 1 "" nsv834591 1 32371454 32525465 CNV loss Wong_et_al_2007 17160897 BAC aCGH nssv1444462 M 95 0 1 KHDRBS1,PTP4A2 nsv4460821 1 32373184 32373185 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023463 M 10847 1 0 PTP4A2 esv2746463 1 32373264 32373992 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6916907,essv6773455,essv6735986,essv6747799,essv6859211,essv6874722,essv6853262,essv6668979,essv6972384,essv6756567,essv6961590,essv6784809,essv6954775,essv6666914,essv6933325,essv6847045 M 96 0 16 PTP4A2 SSM003,SSM009,SSM021,SSM026,SSM027,SSM029,SSM030,SSM031,SSM050,SSM056,SSM059,SSM066,SSM086,SSM087,SSM088,SSM092 esv2127776 1 32373526 32373977 CNV deletion Bentley_et_al_2008 18987734 Sequencing essv4820483 M 1 0 1 PTP4A2 NA18507 nsv1144366 1 32373712 32373794 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995122 M 2 0 1 PTP4A2 KWS1 nsv5573708 1 32373712 32373797 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064736 M 35 0 1 PTP4A2 HG00731 nsv5876473 1 32373712 32373797 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382254 M 914 0 1 PTP4A2 esv3560360 1 32373712 32373798 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759107 M 767 0 1 PTP4A2 nsv3207894 1 32373712 32373798 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14358567,nssv14358568 M 9 0 2 PTP4A2 HG00513,HG00731 nsv5983831 1 32373712 32373798 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17524985 M 405 0 1 PTP4A2 nsv3324957 1 32373714 32373799 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14475328,nssv14480353,nssv14478688,nssv14484221,nssv14489975 M 14 0 5 PTP4A2 HG02059,HG02106,HX1,NA12878,NA19434 nsv3280704 1 32373715 32373767 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14420061 M 9 0 1 PTP4A2 HG00514 nsv4743290 1 32373716 32373804 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259862 M 25 0 1 PTP4A2 esv2746475 1 32373719 32373889 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6859211,essv6853262,essv6668979,essv6972384,essv6954775,essv6847045 M 96 0 6 PTP4A2 SSM026,SSM029,SSM031,SSM086,SSM087,SSM088 dgv51n166 1 32373722 32373798 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4517469,nsv4033653 M 10847 0 2 PTP4A2 nsv5416452 1 32373722 32373798 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901937 M 3202 0 1 PTP4A2 nsv6040739 1 32373741 32373741 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17531937 M 405 1 0 PTP4A2 nsv6539385 1 32375148 32375914 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250217 M 19652 0 0 PTP4A2 nsv947424 1 32377807 32380836 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv2764363 M 97 1 0 PTP4A2 HGDP00998 nsv6545927 1 32380275 32380593 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250218 M 19652 0 0 PTP4A2 nsv5727499 1 32381428 32381428 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17233460 M 3202 1 0 PTP4A2 nsv5721374 1 32381434 32381434 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17241170 M 3202 1 0 PTP4A2 nsv945868 1 32384557 32385154 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1757969,nssv1758019,nssv1758043,nssv1758020,nssv1757979,nssv1758006,nssv1757988,nssv1758026,nssv1757985,nssv1758034,nssv1757977,nssv1758033,nssv1757980,nssv1758003,nssv1757976,nssv1758017,nssv1757982,nssv1758012,nssv1757981,nssv1758018,nssv1757997,nssv1758058,nssv1758049,nssv1758025,nssv1757996,nssv1758022,nssv1757968,nssv1758024,nssv1758046,nssv1758051,nssv1757984,nssv1758052,nssv1757975,nssv1758036,nssv1757974,nssv1758023,nssv1757990,nssv1758008,nssv1758044,nssv1758032,nssv1757967,nssv1758057,nssv1758040,nssv1758013,nssv1757999,nssv1758009,nssv1757993,nssv1758001,nssv1757971,nssv1758027,nssv1757992,nssv1758050,nssv1758000,nssv1758016,nssv1757983,nssv1758038,nssv1758041,nssv1758053,nssv1757989,nssv1758030,nssv1757998,nssv1758005,nssv1757995,nssv1758014,nssv1757963,nssv1758007,nssv1758047,nssv1758029,nssv1757978,nssv1758021,nssv1757986,nssv1758010,nssv1757994,nssv1758056,nssv1758042,nssv1758039,nssv1757970,nssv1758059,nssv1757987,nssv1758004,nssv1758045,nssv1758002,nssv1757991,nssv1758028,nssv1758048,nssv1758055,nssv1757964,nssv1758037,nssv1757966,nssv1758011,nssv1757965,nssv1758031,nssv1757973,nssv1758035,nssv1757972,nssv1758054,nssv1758015 M 97 10 0 PTP4A2 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3683343 1 32385450 32385768 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468086 M 20 0 1 PTP4A2 nsv5829987 1 32385450 32387675 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17455043 M 914 0 0 PTP4A2 nsv5880654 1 32385494 32387850 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17388761 M 914 1 0 PTP4A2 nsv5984019 1 32385858 32385932 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518918 M 405 0 1 PTP4A2 nsv6543007 1 32385986 32386282 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250219 M 19652 0 0 PTP4A2 nsv5433634 1 32388188 32388240 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901938 M 3202 0 1 PTP4A2 nsv4537178 1 32388198 32388199 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023465 M 10847 1 0 PTP4A2 nsv5617841 1 32388200 32388200 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064737 M 35 1 0 PTP4A2 HG03065 nsv4537355 1 32388201 32388202 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023466 M 10847 1 0 PTP4A2 nsv5957045 1 32388202 32388202 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17370436 M 914 1 0 PTP4A2 nsv4537377 1 32388239 32388240 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023467 M 10847 1 0 PTP4A2 nsv6319325 1 32391602 32394201 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060412 M 19652 0 1 PTP4A2 nsv950583 1 32392001 32401100 CNV duplication Dogan_et_al_2014 24416366 Sequencing nssv2997120 M 1 1 0 PTP4A2 BILGI_BIOE nsv6325868 1 32402802 32404201 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060413 M 19652 0 1 PTP4A2 nsv1076345 1 32403299 32404000 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3769678 M 1 0 1 PTP4A2 KWP1 dgv71n106 1 32403300 32404200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1118113,nsv1112527 M 2 0 2 PTP4A2 KWS1,KWS2 nsv5876334 1 32404344 32411574 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383139 M 914 0 1 "" esv2671041 1 32404344 32411575 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5454737 M 1151 0 1 "" NA20532 nsv4034666 1 32404345 32411575 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850286 M 10847 0 1 "" nsv5427057 1 32404345 32411575 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901940 M 3202 0 1 "" nsv6328636 1 32404345 32411575 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060414 M 19652 0 1 "" esv3585656 1 32404350 32411595 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896295,essv9896294 M 2504 0 2 "" NA20519,NA20532 nsv5418922 1 32404619 32407277 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901941 M 3202 0 1 "" nsv6317983 1 32404672 32407189 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060415 M 19652 0 1 "" nsv5830289 1 32405192 32410051 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451759 M 914 0 0 "" esv3560371 1 32405218 32409843 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759118 M 767 0 1 "" esv3585657 1 32405459 32409841 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896296 M 2504 0 1 "" HG00107 nsv5874964 1 32405461 32409824 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17385254 M 914 0 1 "" nsv4049770 1 32405461 32409825 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850288 M 10847 0 1 "" nsv6323704 1 32405461 32409825 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060416 M 19652 0 1 "" nsv6536518 1 32406311 32406977 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250220 M 19652 0 0 "" nsv6324553 1 32406802 32408301 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060417 M 19652 0 1 "" nsv4039352 1 32410390 32411325 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850289 M 10847 0 1 "" nsv473209 1 32411105 32411105 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3016046 M 9 1 0 "" NA19129 esv3431042 1 32411276 32411295 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv9593879 M 185 1 0 "" NA12873 esv3352317 1 32413419 32413419 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv8740965 M 185 1 0 "" NA19240 nsv6551517 1 32414092 32414379 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250221 M 19652 0 0 "" esv3665073 1 32416477 32416477 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487770 M 20 1 0 "" nsv6315779 1 32418825 32421946 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060418 M 19652 0 1 "" nsv5983832 1 32421283 32421492 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530373 M 405 0 1 "" nsv4040034 1 32430425 32430522 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850290 M 10847 0 1 "" nsv5984020 1 32432088 32432209 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526241 M 405 0 1 "" nsv6538135 1 32433532 32434154 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250222 M 19652 0 0 "" nsv5868410 1 32440159 32440729 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17388366 M 914 0 1 "" nsv5875890 1 32441166 32441495 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383173 M 914 0 1 "" nsv5983833 1 32441417 32441563 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17525883 M 405 0 1 "" nsv5878434 1 32445224 32453720 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17374111 M 914 0 1 "" nsv6059278 1 32445375 32445375 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17519524 M 405 1 0 "" nsv5542656 1 32445392 32445392 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901943 M 3202 1 0 "" nsv5957126 1 32445392 32445392 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17376349 M 914 1 0 "" esv3585658 1 32445683 32447383 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896297 M 2504 0 1 "" HG03644 nsv5418088 1 32445726 32447407 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901944 M 3202 0 1 "" nsv5829691 1 32445895 32453698 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451470 M 914 0 0 "" nsv5973491 1 32446513 32446711 OTHER inversion Almarri_et_al_2020 32531199 Sequencing nssv17380881 M 914 0 0 "" nsv4313710 1 32446515 32446992 OTHER inversion gnomAD_Structural_Variants 32461652 Sequencing nssv16091260 M 10847 0 0 "" nsv10073 1 32448285 32452422 CNV loss Perry_et_al_2008 18304495 Oligo aCGH nssv16758 M 31 0 1 "" NA18564 nsv5829692 1 32448624 32451723 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451463 M 914 0 0 "" esv2675881 1 32448660 32452206 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6542586,essv5870725,essv5765278,essv5568099 M 1151 0 4 "" HG00449,HG00614,NA18564,NA19062 nsv5869212 1 32448761 32452129 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386451 M 914 0 1 "" esv2746486 1 32448772 32452095 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6689280,essv6816604,essv6843911,essv6874723,essv6832614,essv6744955,essv6933326 M 96 0 7 "" SSM021,SSM036,SSM055,SSM078,SSM082,SSM085,SSM092 esv3585659 1 32448778 32452166 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896305,essv9896298,essv9896307,essv9896304,essv9896306,essv9896301,essv9896299,essv9896300,essv9896302,essv9896303 M 2504 0 10 "" HG00449,HG00614,HG01853,HG02016,HG02026,HG02079,HG02155,HG02521,NA18564,NA19062 nsv5983834 1 32448784 32452132 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522405 M 405 0 1 "" nsv4033787 1 32448790 32452123 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850291 M 10847 0 1 "" nsv5428974 1 32448790 32452123 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901945 M 3202 0 1 "" nsv6330741 1 32448790 32452123 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060419 M 19652 0 1 "" nsv820067 1 32449243 32451856 CNV loss Kim_et_al_2009 19587683 Oligo aCGH,Sequencing,SNP array nssv1419454 M 2 0 1 "" AK1 nsv822254 1 32449975 32451566 CNV loss Park_et_al_2010 20364138 Oligo aCGH nssv1440121,nssv1428021 M 31 0 2 "" AK10,NA18564 esv3665082 1 32457562 32457562 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487778 M 20 1 0 "" nsv6551489 1 32457848 32458787 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250223 M 19652 0 0 "" nsv6536872 1 32459437 32460053 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250224 M 19652 0 0 "" nsv6331535 1 32462302 32470301 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060420 M 19652 0 1 "" nsv4049464 1 32462347 32470168 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850292 M 10847 0 1 "" nsv5965650 1 32462404 32462404 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17388736 M 914 1 0 "" nsv4461123 1 32462404 32462405 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023468 M 10847 1 0 "" nsv5433762 1 32462601 32469601 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901947 M 3202 0 1 "" nsv6542397 1 32462944 32463459 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250225 M 19652 0 0 "" esv3585660 1 32462978 32464861 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896311,essv9896309,essv9896310,essv9896308 M 2504 0 4 "" HG01813,HG02187,HG04164,HG04180 nsv5829693 1 32462999 32464798 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451430 M 914 0 0 "" nsv5875633 1 32463004 32464968 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372671 M 914 0 1 "" esv2746497 1 32463015 32464914 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6769545,essv6733498,essv6807385,essv6692792 M 96 0 4 "" SSM037,SSM049,SSM065,SSM075 nsv5420265 1 32463097 32464874 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901352 M 3202 0 1 "" nsv5428810 1 32464350 32465278 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901353 M 3202 1 0 "" nsv4516698 1 32464451 32465325 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966186 M 10847 1 0 "" nsv6333797 1 32464451 32465325 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203591 M 19652 1 0 "" nsv5608305 1 32466352 32466352 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064738 M 35 1 0 "" HG00732 nsv5869676 1 32466352 32466471 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17370517 M 914 1 0 "" nsv5420088 1 32466352 32466474 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901354 M 3202 1 0 "" nsv3524381 1 32466355 32466355 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440911 M 9 1 0 "" HG00733 nsv6058297 1 32466372 32466372 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17529134 M 405 1 0 "" nsv3324958 1 32466378 32466378 CNV alu insertion Audano_et_al_2019 30661756 Sequencing nssv14475427 M 14 1 0 "" HG00733 nsv4757611 1 32466420 32466420 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16278555 M 25 1 0 "" nsv3323607 1 32466426 32466426 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14477352 M 14 1 0 "" HG00733 nsv5424105 1 32467637 32472599 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901355 M 3202 0 1 "" nsv6318117 1 32469216 32477467 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060421 M 19652 0 1 "" nsv4049461 1 32469486 32477466 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850293 M 10847 0 1 "" esv3560382 1 32469501 32478000 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759129 M 767 0 1 "" esv3669112 1 32470712 32470805 OTHER complex Besenbacher_et_al_2015 25597990 Sequencing essv16491404 M 20 0 0 "" nsv4049630 1 32472493 32477889 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850294 M 10847 0 1 "" nsv6332944 1 32473195 32475703 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060422 M 19652 0 1 "" nsv4051056 1 32477559 32477642 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850295 M 10847 0 1 "" nsv6315780 1 32478902 32480301 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203592 M 19652 1 0 KHDRBS1 nsv6555283 1 32482567 32483295 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250808 M 19652 0 0 KHDRBS1 nsv5983932 1 32482988 32483104 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535949 M 405 0 1 KHDRBS1 nsv6326109 1 32483202 32484801 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060423 M 19652 0 1 KHDRBS1 nsv5983835 1 32483317 32483445 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523776 M 405 0 1 KHDRBS1 nsv5871405 1 32484019 32484314 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376437 M 914 0 1 KHDRBS1 nsv6553797 1 32484885 32485513 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250809 M 19652 0 0 KHDRBS1 nsv6138371 1 32485895 32485956 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901356 M 3202 1 0 KHDRBS1 nsv6549329 1 32487446 32488328 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250810 M 19652 0 0 KHDRBS1 nsv6539004 1 32493556 32494408 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250811 M 19652 0 0 KHDRBS1 nsv6333650 1 32495070 32496661 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203593 M 19652 1 0 KHDRBS1 nsv4045690 1 32502645 32503433 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850297 M 10847 0 1 KHDRBS1 nsv4046637 1 32517909 32518059 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850298 M 10847 0 1 KHDRBS1 nsv5829694 1 32520186 32521685 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17453739 M 914 0 0 KHDRBS1 nsv5675516 1 32527555 32527555 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17195896 M 3202 1 0 "" nsv5420652 1 32527614 32528225 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901358 M 3202 0 1 "" esv3585661 1 32527623 32528217 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896319,essv9896313,essv9896318,essv9896312,essv9896317,essv9896315,essv9896316,essv9896314 M 2504 0 8 "" HG02315,HG02461,HG02772,HG03091,HG03376,HG03401,NA19190,NA20783 nsv5957017 1 32531668 32531668 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17386207 M 914 1 0 "" nsv6316932 1 32533466 32535663 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060424 M 19652 0 1 "" nsv4036636 1 32534079 32535588 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850299 M 10847 0 1 "" esv2662266 1 32535943 32537630 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5882475 M 1151 0 1 "" NA19054 esv3585662 1 32535965 32537652 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896321,essv9896320 M 2504 0 2 "" NA18946,NA19054 nsv5876839 1 32535998 32537604 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17370486 M 914 0 1 "" nsv5424270 1 32535998 32537605 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901360 M 3202 0 1 "" nsv4390921 1 32535999 32537605 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15706181 M 174 0 1 "" nsv6054427 1 32536454 32536454 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17526378 M 405 1 0 "" nsv4047802 1 32542559 32557124 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966187 M 10847 1 0 TMEM39B nsv1154076 1 32542890 32542961 CNV insertion John_et_al_2014 26484159 Sequencing nssv4003353 M 1 1 0 TMEM39B KWB1 nsv4037960 1 32544000 32549000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850300 M 10847 0 1 TMEM39B esv3560393 1 32544001 32549000 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759140 M 767 0 1 TMEM39B esv3585663 1 32544371 32548765 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896322,essv9896323,essv9896325,essv9896324 M 2504 0 4 TMEM39B HG01705,HG02649,NA12815,NA19072 nsv6325202 1 32544402 32547501 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060425 M 19652 0 1 TMEM39B nsv4517776 1 32544421 32544818 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850301 M 10847 0 1 TMEM39B nsv5419336 1 32544475 32548606 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901361 M 3202 0 1 TMEM39B esv25480 1 32544596 32547969 CNV loss Conrad_et_al_2009 19812545 Oligo aCGH esv16902 M 40 0 1 TMEM39B NA11993 dgv224n54 1 32544726 32547056 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545958,nsv545955 M 17421 0 2 TMEM39B dgv225n54 1 32544726 32547856 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nsv545959,nsv545956 M 17421 0 2 TMEM39B nsv545957 1 32544726 32554585 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712147 M 17421 0 1 TMEM39B nsv6536539 1 32545397 32546198 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250812 M 19652 0 0 TMEM39B nsv6319554 1 32545458 32572826 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203594 M 19652 1 0 TMEM39B nsv4033175 1 32546000 32573000 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966188 M 10847 1 0 TMEM39B nsv5885478 1 32546651 32546703 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375966 M 914 0 1 TMEM39B nsv4390922 1 32546860 32547307 CNV deletion Wong_et_al_2019 31340865 Merging,Sequencing nssv15706293 M 174 0 1 TMEM39B nsv5983793 1 32547178 32547285 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530123 M 405 0 1 TMEM39B esv3585664 1 32548014 32553653 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896331,essv9896327,essv9896330,essv9896326,essv9896329,essv9896328 M 2504 0 6 TMEM39B HG03888,HG03907,HG04017,NA20892,NA21118,NA21143 nsv5423357 1 32548187 32553363 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901362 M 3202 0 1 TMEM39B nsv5431127 1 32548932 32549271 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901363 M 3202 0 1 TMEM39B nsv5427309 1 32549131 32556348 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901364 M 3202 0 1 TMEM39B nsv6327360 1 32549278 32550422 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060426 M 19652 0 1 TMEM39B nsv5829988 1 32549693 32553576 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451261 M 914 0 0 TMEM39B esv2674125 1 32551023 32552947 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5485947 M 1151 0 1 TMEM39B HG01073 nsv5829695 1 32551068 32553175 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17454051 M 914 0 0 TMEM39B esv3585665 1 32551071 32552940 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896336,essv9896334,essv9896338,essv9896333,essv9896337,essv9896335,essv9896332 M 2504 0 7 TMEM39B HG01073,HG03888,HG03907,HG04017,NA20892,NA21118,NA21143 nsv4038594 1 32551088 32551152 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850303 M 10847 0 1 TMEM39B nsv5876889 1 32551104 32552974 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375009 M 914 0 1 TMEM39B nsv5429233 1 32551121 32552952 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901365 M 3202 0 1 TMEM39B dgv52n166 1 32551121 32552966 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nsv4036450,nsv4052098 M 10847 0 2 TMEM39B nsv6333110 1 32551160 32552952 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060427 M 19652 0 1 TMEM39B nsv5983836 1 32551296 32552850 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17522082 M 405 0 1 TMEM39B nsv6333680 1 32553393 32563466 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060428 M 19652 0 1 TMEM39B nsv4038477 1 32553484 32555572 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850306 M 10847 0 1 TMEM39B nsv4535785 1 32554324 32554325 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023469 M 10847 1 0 TMEM39B nsv5686487 1 32554373 32554373 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205751,nssv17196995 M 3202 2 0 TMEM39B nsv6241560 1 32554373 32554373 CNV alu insertion Prakrithi_et_al_2022 35178516 Sequencing nssv17846113 M 1021 1 0 TMEM39B nsv4039381 1 32554373 32556242 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850307 M 10847 0 1 TMEM39B nsv5431898 1 32554373 32556274 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901366 M 3202 0 1 TMEM39B nsv5830290 1 32554395 32556294 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459914 M 914 0 0 TMEM39B nsv5881935 1 32554433 32556321 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17383777 M 914 0 1 TMEM39B esv3585666 1 32554454 32556315 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896342,essv9896339,essv9896343,essv9896340,essv9896345,essv9896341,essv9896347,essv9896344,essv9896350,essv9896346,essv9896352,essv9896349,essv9896348,essv9896351 M 2504 0 14 TMEM39B HG01098,HG01613,HG02603,HG03705,HG03875,HG03907,HG03937,HG03968,NA12872,NA20589,NA20772,NA20796,NA20802,NA20807 nsv6318473 1 32554483 32556308 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060429 M 19652 0 1 TMEM39B nsv4516572 1 32554757 32555430 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850308 M 10847 0 1 TMEM39B nsv6547695 1 32563310 32564312 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250813 M 19652 0 0 TMEM39B nsv3201381 1 32570816 32571343 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359227,nssv14359226 M 9 0 2 "" NA19238,NA19239 nsv5425060 1 32575334 32581899 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901367 M 3202 1 0 KPNA6 nsv4032750 1 32575340 32581892 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966189 M 10847 1 0 KPNA6 nsv6321733 1 32575358 32581932 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203595 M 19652 1 0 KPNA6 nsv5877012 1 32575370 32581892 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17381289 M 914 1 0 KPNA6 nsv6318752 1 32575376 32585434 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060430 M 19652 0 1 KPNA6 esv3585667 1 32575417 32581537 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896353 M 2504 0 1 KPNA6 HG01892 esv3585668 1 32575417 32581537 CNV gain 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896366,essv9896359,essv9896365,essv9896358,essv9896364,essv9896360,essv9896362,essv9896355,essv9896361,essv9896356,essv9896363,essv9896357,essv9896354 M 2504 13 0 KPNA6 HG00255,HG01251,HG01462,HG01605,HG01672,HG01961,HG02238,NA11831,NA12282,NA12489,NA19658,NA20525,NA20588 nsv5829989 1 32575714 32581563 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17459706 M 914 0 0 KPNA6 nsv6549680 1 32575821 32576259 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250814 M 19652 0 0 KPNA6 nsv4034852 1 32575851 32585501 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850309 M 10847 0 1 KPNA6 nsv6334187 1 32579741 32580309 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060431 M 19652 0 1 KPNA6 esv3665097 1 32580563 32580563 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487791 M 20 1 0 KPNA6 nsv6322111 1 32583377 32584633 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060432 M 19652 0 1 KPNA6 nsv5426954 1 32583377 32584653 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901368 M 3202 0 1 KPNA6 nsv5949421 1 32584622 32584622 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17387423 M 914 1 0 KPNA6 nsv6547362 1 32585838 32587741 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250815 M 19652 0 0 KPNA6 nsv5983933 1 32587368 32587668 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17526304 M 405 0 1 KPNA6 nsv4045291 1 32587742 32589440 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850311 M 10847 0 1 KPNA6 nsv4744396 1 32589469 32589534 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16283821 M 25 0 1 KPNA6 nsv5983794 1 32589469 32589571 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17530379 M 405 0 1 KPNA6 nsv6543939 1 32589608 32590578 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250816 M 19652 0 0 KPNA6 nsv6329200 1 32589635 32591580 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203596 M 19652 1 0 KPNA6 nsv4033692 1 32593967 32594467 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850312 M 10847 0 1 KPNA6 nsv5546299 1 32597173 32597203 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901371 M 3202 1 0 KPNA6 nsv6138323 1 32597184 32597265 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv17683876 M 3202 1 0 KPNA6 nsv6321220 1 32597667 32600492 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060433 M 19652 0 1 KPNA6 nsv6543126 1 32597681 32598564 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250817 M 19652 0 0 KPNA6 nsv5420459 1 32598353 32599425 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901373 M 3202 0 1 KPNA6 nsv4039205 1 32598353 32599441 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850313 M 10847 0 1 KPNA6 nsv6554270 1 32599624 32600704 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250818 M 19652 0 0 KPNA6 nsv4032617 1 32599732 32607767 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966190 M 10847 1 0 KPNA6 nsv5433556 1 32599758 32607757 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901374 M 3202 1 0 KPNA6 nsv6323458 1 32599758 32607757 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203597 M 19652 1 0 KPNA6 nsv5419721 1 32600101 32600265 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16901375 M 3202 0 1 KPNA6 nsv6546921 1 32601477 32603995 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250819 M 19652 0 0 KPNA6 nsv6322390 1 32603986 32605779 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060434 M 19652 0 1 KPNA6 nsv4043587 1 32606893 32607022 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850314 M 10847 0 1 KPNA6 nsv5429025 1 32606893 32607022 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903593 M 3202 0 1 KPNA6 nsv5425892 1 32610971 32611150 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903594 M 3202 0 1 KPNA6 nsv6322271 1 32612696 32614533 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060435 M 19652 0 1 KPNA6 nsv6540712 1 32616249 32618413 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250820 M 19652 0 0 KPNA6 nsv5870974 1 32618579 32619132 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17379435 M 914 0 1 KPNA6 nsv5425663 1 32618944 32619601 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903595 M 3202 1 0 KPNA6 nsv4036462 1 32618952 32619601 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966191 M 10847 1 0 KPNA6 nsv5882906 1 32618990 32619570 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17386775 M 914 1 0 KPNA6 nsv6317343 1 32618990 32619571 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203598 M 19652 1 0 KPNA6 nsv6547483 1 32620555 32621070 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250821 M 19652 0 0 KPNA6 nsv1122325 1 32620950 32621016 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970532 M 2 0 1 KPNA6 KWS2 nsv6330809 1 32622692 32623310 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060436 M 19652 0 1 KPNA6 nsv4572212 1 32630141 32631501 OTHER sequence alteration gnomAD_Structural_Variants 32461652 Sequencing nssv15789159 M 10847 0 0 KPNA6 nsv6553916 1 32630142 32631501 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250822 M 19652 0 0 KPNA6 nsv6553630 1 32641217 32642763 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250823 M 19652 0 0 KPNA6 nsv476003 1 32644880 32644880 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3020015 M 9 1 0 "" NA12878 nsv6545918 1 32648259 32649032 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250824 M 19652 0 0 TXLNA nsv5422787 1 32648826 32649129 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903597 M 3202 0 1 TXLNA nsv4044239 1 32649228 32649333 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850315 M 10847 0 1 TXLNA nsv7745 1 32649471 32657670 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv10803 M 9 1 0 TXLNA NA18956 nsv5424896 1 32668643 32668967 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903598 M 3202 0 1 CCDC28B nsv6329842 1 32668643 32668967 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060437 M 19652 0 1 CCDC28B nsv4040546 1 32671723 32674043 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850316 M 10847 0 1 IQCC nsv5428746 1 32671723 32674043 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903599 M 3202 0 1 IQCC nsv6330953 1 32671723 32674043 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060438 M 19652 0 1 IQCC nsv300 1 32672513 32707290 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv1059 M 9 1 0 DCDC2B,EIF3I,IQCC,MTMR9LP,TMEM234 NA19240 nsv6327578 1 32678937 32685160 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060439 M 19652 0 1 DCDC2B,TMEM234 nsv5983934 1 32692653 32695322 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519872 M 405 0 1 EIF3I nsv5414606 1 32696709 32696982 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903600 M 3202 1 0 EIF3I nsv4460822 1 32696795 32696796 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023470 M 10847 1 0 EIF3I nsv4040627 1 32697558 32702924 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850317 M 10847 0 1 MTMR9LP nsv6332663 1 32697558 32702924 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060440 M 19652 0 1 MTMR9LP nsv6139043 1 32697973 32711893 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903601 M 3202 1 0 MTMR9LP nsv6330014 1 32697973 32711893 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203599 M 19652 1 0 MTMR9LP esv2662740 1 32698948 32701021 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6509961 M 1151 0 1 MTMR9LP HG00246 nsv5433740 1 32699137 32701162 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903603 M 3202 0 1 MTMR9LP nsv6329742 1 32699402 32705501 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060441 M 19652 0 1 MTMR9LP nsv4041590 1 32701227 32701362 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850318 M 10847 0 1 MTMR9LP nsv6326478 1 32702236 32711993 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060442 M 19652 0 1 MTMR9LP esv3665103 1 32702681 32702681 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487797 M 20 1 0 MTMR9LP nsv4050574 1 32708140 32708202 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850320 M 10847 0 1 "" nsv5692921 1 32708710 32708710 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17196429 M 3202 1 0 "" nsv5984021 1 32714887 32715071 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523525 M 405 0 1 "" dgv149n223 1 32725004 32725718 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6545259,nsv6539914 M 19652 0 0 LCK nsv1077305 1 32726799 32728500 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3770070 M 1 0 1 LCK KWP1 nsv5419380 1 32727065 32727371 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903604 M 3202 0 1 LCK nsv6321819 1 32727302 32734501 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060443 M 19652 0 1 LCK dgv150n223 1 32727414 32728316 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6549211,nsv6543448,nsv6542075 M 19652 0 0 LCK nsv4049230 1 32727731 32727788 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850321 M 10847 0 1 LCK nsv5676556 1 32728449 32728449 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17196011 M 3202 1 0 LCK nsv1112528 1 32732200 32732500 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966627 M 2 0 1 LCK KWS2 nsv4753175 1 32732268 32732268 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16296406 M 25 1 0 LCK nsv3535677 1 32732287 32732287 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14386516 M 9 1 0 LCK NA19240 nsv5615873 1 32732292 32732292 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064746 M 35 1 0 LCK NA19239 nsv5983935 1 32732307 32732403 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536901 M 405 0 1 LCK nsv6051870 1 32732308 32732308 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17521996 M 405 1 0 LCK nsv3323608 1 32732318 32732318 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14475028 M 14 1 0 LCK NA19434 nsv3324557 1 32732366 32732415 CNV deletion Audano_et_al_2019 30661756 Sequencing nssv14488262 M 14 0 1 LCK NA12878 nsv6329122 1 32733693 32734312 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060444 M 19652 0 1 LCK nsv4516910 1 32733726 32734286 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850322 M 10847 0 1 LCK nsv5420680 1 32733823 32735387 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903606 M 3202 0 1 LCK nsv6554074 1 32734815 32735340 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250830 M 19652 0 0 LCK nsv6539289 1 32736736 32737155 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250831 M 19652 0 0 LCK nsv5983795 1 32738181 32738232 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523352 M 405 0 1 LCK nsv3324961 1 32738206 32738206 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14472090 M 14 1 0 LCK HG02106 nsv4034172 1 32738224 32738313 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966192 M 10847 1 0 LCK nsv4034321 1 32749475 32749852 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850323 M 10847 0 1 LCK nsv5552124 1 32749801 32749851 CNV insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903609 M 3202 1 0 LCK nsv4760264 1 32749860 32749860 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16288548 M 25 1 0 LCK nsv6555572 1 32753174 32753665 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250832 M 19652 0 0 "" nsv6321351 1 32753612 32759503 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060445 M 19652 0 1 HDAC1 dgv151n223 1 32754102 32754518 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6544221,nsv6538167 M 19652 0 0 "" nsv6552870 1 32758922 32760418 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250835 M 19652 0 0 HDAC1 nsv4041175 1 32759226 32766817 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966193 M 10847 1 0 HDAC1 nsv4048424 1 32763376 32763459 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850324 M 10847 0 1 HDAC1 nsv5724953 1 32767400 32767400 CNV sva insertion Chuang_et_al_2021 34772701 Sequencing nssv17233901 M 3202 1 0 HDAC1 nsv6554506 1 32776297 32778278 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250836 M 19652 0 0 HDAC1 nsv5983837 1 32780430 32781855 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17518815 M 405 0 1 HDAC1 nsv5830291 1 32781968 32783417 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17450417 M 914 0 0 HDAC1 nsv6333218 1 32785402 32786501 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060446 M 19652 0 1 HDAC1 nsv5885163 1 32785549 32786231 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17372214 M 914 0 1 HDAC1 nsv5984022 1 32785549 32786232 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17537493 M 405 0 1 HDAC1 nsv3210060 1 32786370 32788778 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359270 M 9 1 0 HDAC1 HG00513 nsv4034475 1 32786507 32786820 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966194 M 10847 1 0 HDAC1 nsv6544200 1 32788080 32788776 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250837 M 19652 0 0 HDAC1 nsv476322 1 32788215 32788215 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3018358 M 9 1 0 HDAC1 NA12878 nsv4036646 1 32790174 32791977 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850325 M 10847 0 1 HDAC1 nsv6316727 1 32790174 32791977 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060447 M 19652 0 1 HDAC1 nsv5984023 1 32791836 32791902 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17528693 M 405 0 1 HDAC1 nsv1122326 1 32791853 32791913 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970533 M 2 0 1 HDAC1 KWS2 nsv4044761 1 32800701 32801546 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850326 M 10847 0 1 MARCKSL1 nsv1077308 1 32800999 32801400 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3766432 M 1 0 1 MARCKSL1 KWP1 nsv1112529 1 32801000 32802200 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3966628 M 2 0 1 MARCKSL1 KWS2 nsv4037171 1 32820381 32830193 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966195 M 10847 1 0 FAM229A,TSSK3 nsv6325815 1 32820381 32830298 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203600 M 19652 1 0 FAM229A,TSSK3 nsv6053139 1 32830006 32830006 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17524621 M 405 1 0 "" esv7048 1 32833179 32833378 CNV gain Ahn_et_al_2009 19470904 Sequencing essv29489 M 1 0 0 BSDC1 nsv6321009 1 32834502 32835801 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060448 M 19652 0 1 BSDC1 nsv4535553 1 32834608 32834609 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023471 M 10847 1 0 BSDC1 nsv5983838 1 32836178 32836327 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17535144 M 405 0 1 BSDC1 nsv4043345 1 32858085 32858142 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850327 M 10847 0 1 BSDC1 nsv4047496 1 32858446 32858577 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850328 M 10847 0 1 BSDC1 nsv4566975 1 32859414 32859415 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023473 M 10847 1 0 BSDC1 nsv6335187 1 32865199 32865901 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060449 M 19652 0 1 "" nsv5419282 1 32866438 32869592 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903614 M 3202 0 1 "" nsv6332499 1 32866548 32869592 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060450 M 19652 0 1 "" nsv945869 1 32866550 32868352 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758142,nssv1758100,nssv1758060,nssv1758118,nssv1758086,nssv1758130,nssv1758093,nssv1758156,nssv1758066,nssv1758151,nssv1758076,nssv1758136,nssv1758091,nssv1758132,nssv1758080,nssv1758128,nssv1758087,nssv1758123,nssv1758146,nssv1758103,nssv1758079,nssv1758148,nssv1758094,nssv1758101,nssv1758084,nssv1758117,nssv1758085,nssv1758116,nssv1758065,nssv1758124,nssv1758144,nssv1758131,nssv1758090,nssv1758114,nssv1758088,nssv1758112,nssv1758068,nssv1758119,nssv1758096,nssv1758152,nssv1758078,nssv1758121,nssv1758071,nssv1758155,nssv1758143,nssv1758122,nssv1758064,nssv1758108,nssv1758074,nssv1758099,nssv1758140,nssv1758110,nssv1758089,nssv1758133,nssv1758073,nssv1758107,nssv1758077,nssv1758115,nssv1758137,nssv1758109,nssv1758141,nssv1758111,nssv1758072,nssv1758098,nssv1758138,nssv1758129,nssv1758095,nssv1758120,nssv1758092,nssv1758149,nssv1758075,nssv1758154,nssv1758082,nssv1758104,nssv1758067,nssv1758134,nssv1758083,nssv1758127,nssv1758097,nssv1758105,nssv1758139,nssv1758147,nssv1758081,nssv1758126,nssv1758069,nssv1758153,nssv1758062,nssv1758106,nssv1758145,nssv1758102,nssv1758063,nssv1758113,nssv1758061,nssv1758135,nssv1758070,nssv1758150,nssv1758125 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv521689 1 32866717 32875280 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv698309 M 2026 0 1 "" nsv6330623 1 32868902 32873001 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203601 M 19652 1 0 "" nsv4036159 1 32869846 32914918 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966196 M 10847 1 0 "" nsv6320236 1 32869846 32914918 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203602 M 19652 1 0 "" nsv5572788 1 32871677 32871968 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064747 M 35 0 1 "" NA19983 nsv5875989 1 32871677 32871968 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17389329 M 914 0 1 "" esv2660543 1 32871677 32871969 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6150232,essv5728274,essv5800506,essv6195180,essv5881366,essv6042259 M 1151 0 6 "" NA18874,NA19374,NA19390,NA19707,NA19834,NA19835 nsv4042615 1 32871678 32871969 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850329 M 10847 0 1 "" nsv5422002 1 32871678 32871969 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903615 M 3202 0 1 "" nsv6323197 1 32871678 32871969 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060451 M 19652 0 1 "" nsv6138995 1 32873894 32875393 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903616 M 3202 0 1 "" nsv5829990 1 32874136 32875535 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17467471 M 914 0 0 "" esv2675096 1 32874178 32875606 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6134483,essv6486048,essv5940337,essv5709303,essv6262725,essv6415354,essv5492160,essv6265773 M 1151 0 8 "" NA19247,NA19376,NA19472,NA19655,NA19707,NA19908,NA19921,NA20291 nsv5879990 1 32874277 32878848 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17377622 M 914 0 1 "" nsv5578463 1 32874314 32875414 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064748 M 35 0 1 "" HG03065 nsv5873133 1 32874317 32875418 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382392 M 914 0 1 "" esv3585669 1 32874326 32875482 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896367,essv9896368,essv9896410,essv9896369,essv9896407,essv9896372,essv9896413,essv9896371,essv9896411,essv9896373,essv9896412,essv9896370,essv9896408,essv9896404,essv9896409,essv9896400,essv9896406,essv9896402,essv9896381,essv9896403,essv9896390,essv9896399,essv9896376,essv9896405,essv9896393,essv9896401,essv9896384,essv9896391,essv9896374,essv9896385,essv9896397,essv9896398,essv9896392,essv9896388,essv9896386,essv9896382,essv9896379,essv9896389,essv9896383,essv9896377,essv9896387,essv9896396,essv9896380,essv9896375,essv9896378,essv9896394,essv9896395 M 2504 0 47 "" HG01111,HG01882,HG01896,HG01933,HG02090,HG02283,HG02318,HG02536,HG02537,HG02620,HG02621,HG02629,HG02646,HG02756,HG02804,HG02861,HG02888,HG02982,HG03052,HG03064,HG03095,HG03157,HG03160,HG03169,HG03267,HG03291,HG03295,HG03366,HG03394,HG03410,HG03473,HG03484,NA18508,NA18871,NA18924,NA19093,NA19096,NA19152,NA19247,NA19376,NA19472,NA19655,NA19707,NA19908,NA19921,NA20281,NA20291 nsv6316236 1 32874335 32875393 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060452 M 19652 0 1 "" nsv4034967 1 32874335 32875451 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850330 M 10847 0 1 "" nsv517673 1 32874956 32875280 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv660765,nssv656688,nssv664022,nssv652612,nssv658815,nssv683040,nssv665622,nssv654219,nssv658183,nssv654560,nssv671459,nssv693089 M 2026 0 12 "" nsv5829991 1 32875411 32878810 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457720 M 914 0 0 "" nsv5829992 1 32876236 32877735 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17468905 M 914 0 0 "" nsv945871 1 32877593 32896097 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758320,nssv1758356,nssv1758323,nssv1758280,nssv1758337,nssv1758273,nssv1758340,nssv1758281,nssv1758310,nssv1758272,nssv1758325,nssv1758274,nssv1758333,nssv1758277,nssv1758329,nssv1758306,nssv1758332,nssv1758293,nssv1758364,nssv1758301,nssv1758347,nssv1758305,nssv1758358,nssv1758284,nssv1758346,nssv1758289,nssv1758331,nssv1758354,nssv1758328,nssv1758296,nssv1758316,nssv1758297,nssv1758314,nssv1758286,nssv1758317,nssv1758357,nssv1758361,nssv1758288,nssv1758362,nssv1758282,nssv1758334,nssv1758157,nssv1758322,nssv1758299,nssv1758341,nssv1758353,nssv1758321,nssv1758303,nssv1758330,nssv1758276,nssv1758313,nssv1758275,nssv1758367,nssv1758302,nssv1758345,nssv1758285,nssv1758336,nssv1758304,nssv1758318,nssv1758279,nssv1758339,nssv1758352,nssv1758342,nssv1758292,nssv1758343,nssv1758307,nssv1758312,nssv1758300,nssv1758309,nssv1758308,nssv1758338,nssv1758290,nssv1758315,nssv1758351,nssv1758363,nssv1758348,nssv1758319,nssv1758355,nssv1758326,nssv1758298,nssv1758366,nssv1758294,nssv1758335,nssv1758349,nssv1758324,nssv1758291,nssv1758327,nssv1758283,nssv1758311,nssv1758350,nssv1758360,nssv1758278,nssv1758365,nssv1758295,nssv1758344,nssv1758287,nssv1758359 M 97 10 0 "" HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv6317830 1 32882102 32884901 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060453 M 19652 0 1 "" nsv4537443 1 32885472 32885473 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023474 M 10847 1 0 "" nsv6329071 1 32887372 32888365 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060454 M 19652 0 1 "" nsv5984024 1 32888146 32888215 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17531131 M 405 0 1 "" nsv5432072 1 32890899 32890950 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903619 M 3202 0 1 "" nsv6323040 1 32891302 32896201 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060455 M 19652 0 1 "" nsv4035960 1 32891304 32896239 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850331 M 10847 0 1 "" nsv4033660 1 32898203 32903555 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966197 M 10847 1 0 "" nsv6328819 1 32898602 32903701 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203603 M 19652 1 0 "" nsv5880244 1 32898822 32898942 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380288 M 914 0 1 "" nsv5416811 1 32898845 32898909 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903620 M 3202 0 1 "" nsv5684407 1 32898942 32898942 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17196722 M 3202 1 0 "" nsv5412912 1 32898942 32898993 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903621 M 3202 1 0 "" nsv6324372 1 32899484 32901221 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060456 M 19652 0 1 "" nsv5829993 1 32908782 32911044 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17469507 M 914 0 0 "" nsv5959706 1 32911501 32911501 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17372336 M 914 1 0 "" nsv4535256 1 32911501 32911502 CNV insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023475 M 10847 1 0 "" nsv5676190 1 32911510 32911510 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17197449,nssv17205754 M 3202 2 0 "" nsv5404151 1 32911510 32911561 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903623 M 3202 1 0 "" nsv5428747 1 32916615 32917274 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903624 M 3202 0 1 "" nsv5829696 1 32917530 32918576 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17458636 M 914 0 0 "" nsv6329755 1 32919324 32920994 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060457 M 19652 0 1 "" nsv6323338 1 32924653 32927019 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060458 M 19652 0 1 "" nsv4033842 1 32925813 32939594 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966198 M 10847 1 0 ZBTB8B nsv5433557 1 32925854 32939593 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903625 M 3202 1 0 ZBTB8B nsv6324297 1 32925864 32939593 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203604 M 19652 1 0 ZBTB8B nsv6316401 1 32930662 32941011 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060459 M 19652 0 1 ZBTB8B nsv6335098 1 32932702 32933601 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060460 M 19652 0 1 ZBTB8B nsv3531536 1 32935166 32935166 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14387464 M 9 1 0 ZBTB8B NA19240 nsv3199172 1 32936347 32941947 CNV duplication Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359331,nssv14359330,nssv14359336,nssv14359335,nssv14359338,nssv14359333,nssv14359334,nssv14359337,nssv14359332 M 9 9 0 ZBTB8B HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv4045328 1 32937314 32937364 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850332 M 10847 0 1 ZBTB8B nsv5430742 1 32937314 32937364 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903626 M 3202 0 1 ZBTB8B nsv5876662 1 32937522 32937581 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381429 M 914 0 1 ZBTB8B nsv5951580 1 32951048 32951048 CNV insertion Almarri_et_al_2020 32531199 Sequencing nssv17376625 M 914 1 0 ZBTB8B nsv4568642 1 32951048 32951049 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023476 M 10847 1 0 ZBTB8B nsv6550768 1 32953209 32954631 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250838 M 19652 0 0 ZBTB8B nsv6550335 1 32958805 32959298 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250839 M 19652 0 0 "" nsv6547545 1 32959510 32960403 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250840 M 19652 0 0 "" esv3665106 1 32959784 32959784 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487800 M 20 1 0 "" nsv4045014 1 32963067 32963164 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966199 M 10847 1 0 "" nsv5427940 1 32963067 32963164 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903627 M 3202 1 0 "" nsv6552968 1 32963833 32964503 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250841 M 19652 0 0 "" nsv4731609 1 32964259 32964334 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16259658 M 25 0 1 "" nsv5983796 1 32964263 32964370 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17520795 M 405 0 1 "" nsv1005213 1 32965119 33115875 CNV gain Coe_et_al_2014 25217958 Oligo aCGH,SNP array nssv3472615 M 11257 1 0 ZBTB8A,ZBTB8OS nsv5873064 1 32965599 32970363 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17381074 M 914 0 1 "" nsv3198805 1 32965647 32966142 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359362 M 9 0 1 "" HG00512 nsv6329360 1 32965802 32966801 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060461 M 19652 0 1 "" nsv1143444 1 32965900 32966600 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3980644 M 2 0 1 "" KWS1 nsv3526538 1 32966305 33005342 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14359389 M 9 0 1 ZBTB8A HG00512 dgv37n209 1 32966399 32970223 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5829835,nsv5829836 M 914 0 0 "" nsv5615580 1 32967990 32967990 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064749 M 35 1 0 "" HG03371 nsv4460823 1 32967990 32967991 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023477 M 10847 1 0 "" nsv5688167 1 32968005 32968005 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17197736,nssv17205755 M 3202 2 0 "" nsv5401550 1 32968005 32968056 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903630 M 3202 1 0 "" nsv4049231 1 32969000 32974000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850333 M 10847 0 1 "" esv2660472 1 32969091 32973956 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6218541 M 1151 0 1 "" NA18606 esv3585671 1 32969483 32974121 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896436,essv9896437 M 2504 0 2 "" HG02182,NA18606 nsv5432885 1 32969484 32974064 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903631 M 3202 0 1 "" nsv5983839 1 32969501 32974064 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527463 M 405 0 1 "" nsv6554692 1 32972381 32972900 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250842 M 19652 0 0 "" nsv4046699 1 32972841 32972936 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850334 M 10847 0 1 "" nsv5421071 1 32972841 32972936 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903632 M 3202 0 1 "" nsv6538058 1 32976502 32976912 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250843 M 19652 0 0 "" nsv4047692 1 32978926 32979000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850336 M 10847 0 1 "" nsv545960 1 32979238 33087052 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv712150 M 17421 0 1 ZBTB8A nsv5688866 1 32979400 32979400 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205756,nssv17197524 M 3202 2 0 "" nsv6325305 1 32980443 32981644 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203605 M 19652 1 0 "" nsv6332104 1 32981424 32987797 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060462 M 19652 0 1 "" nsv1133834 1 32982624 32982683 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3970157 M 2 0 1 "" KWS2 nsv6539966 1 32982871 32983509 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250844 M 19652 0 0 "" nsv5983840 1 32982903 32987883 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527291 M 405 0 1 "" nsv1144367 1 32982935 32983004 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3995123 M 2 0 1 "" KWS1 nsv5691806 1 32983097 32983097 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17196128 M 3202 1 0 "" nsv6319237 1 32983531 32986501 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060463 M 19652 0 1 "" nsv6329052 1 32987926 32989386 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060464 M 19652 0 1 "" nsv6543291 1 32994387 32994947 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250845 M 19652 0 0 "" dgv152n223 1 32994887 32995434 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6542004,nsv6552159 M 19652 0 0 "" nsv1119675 1 32995339 32995401 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3982123 M 2 0 1 "" KWS1 esv3665115 1 32996823 32996823 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487807 M 20 1 0 "" nsv4050026 1 32997984 33003163 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850337 M 10847 0 1 "" nsv4461124 1 32999615 32999616 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023478 M 10847 1 0 "" nsv6332377 1 33004302 33005801 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060465 M 19652 0 1 ZBTB8A nsv6316622 1 33004802 33006301 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060466 M 19652 0 1 ZBTB8A dgv72n106 1 33005100 33005700 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nsv1126191,nsv1121761 M 2 0 2 ZBTB8A KWS1,KWS2 nsv1075804 1 33005199 33005700 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3765423 M 1 0 1 ZBTB8A KWP1 nsv3536978 1 33005341 33005341 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413551,nssv14440912,nssv14380085 M 9 3 0 ZBTB8A HG00514,HG00733,NA19240 nsv3933360 1 33005341 33005341 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192394 M 1 1 0 ZBTB8A HG002 nsv4444836 1 33005341 33005341 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15766270 M 1 1 0 ZBTB8A nsv5610559 1 33005341 33005341 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064750 M 35 1 0 ZBTB8A HG00731 nsv6046807 1 33005341 33005341 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17520968 M 405 1 0 ZBTB8A nsv2801925 1 33005342 33005342 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13702191 M 2 1 0 ZBTB8A nsv3324558 1 33005342 33005342 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479460,nssv14477689,nssv14481099,nssv14490789,nssv14484882,nssv14476047,nssv14482409,nssv14491332,nssv14482868,nssv14478149,nssv14487159,nssv14474547,nssv14488299 M 14 13 0 ZBTB8A CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 nsv4764311 1 33005345 33005345 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16283227 M 25 1 0 ZBTB8A nsv3200143 1 33005346 33005483 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360060 M 9 0 1 ZBTB8A HG00512 nsv3056161 1 33005347 33005347 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14025019 M 2 1 0 ZBTB8A NA12878 nsv6319655 1 33008766 33009359 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060467 M 19652 0 1 ZBTB8A nsv6552755 1 33009392 33010181 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250848 M 19652 0 0 ZBTB8A nsv4042591 1 33009603 33015096 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850338 M 10847 0 1 ZBTB8A nsv6316457 1 33009603 33015096 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060468 M 19652 0 1 ZBTB8A nsv4461125 1 33010953 33010954 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023479 M 10847 1 0 ZBTB8A nsv6542505 1 33011818 33012571 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250849 M 19652 0 0 ZBTB8A nsv4035950 1 33013217 33014515 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850339 M 10847 0 1 ZBTB8A nsv6536063 1 33013671 33013949 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250850 M 19652 0 0 ZBTB8A nsv6555277 1 33013678 33014254 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250851 M 19652 0 0 ZBTB8A nsv6318765 1 33014450 33014783 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060469 M 19652 0 1 ZBTB8A nsv3207022 1 33019685 33019800 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360098 M 9 0 1 ZBTB8A HG00512 nsv5830292 1 33020253 33025871 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17451284 M 914 0 0 ZBTB8A nsv5876147 1 33020264 33042659 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17376985 M 914 0 1 ZBTB8A nsv6317414 1 33020761 33022206 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060470 M 19652 0 1 ZBTB8A nsv4038761 1 33021916 33068976 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966200 M 10847 1 0 ZBTB8A nsv6333415 1 33021916 33068976 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203606 M 19652 1 0 ZBTB8A nsv6546570 1 33021959 33022647 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250852 M 19652 0 0 ZBTB8A nsv3191738 1 33022792 33023221 CNV deletion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360146 M 9 0 1 ZBTB8A NA19238 nsv475689 1 33023549 33023549 CNV novel sequence insertion Kidd_et_al_2010 20440878 Oligo aCGH,Sequencing nssv3011022 M 9 1 0 ZBTB8A NA12878 nsv6328242 1 33026202 33028401 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060471 M 19652 0 1 ZBTB8A esv2666068 1 33026346 33028032 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6307850 M 1151 0 1 ZBTB8A NA19247 nsv5829837 1 33026372 33027499 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17456225 M 914 0 0 ZBTB8A nsv5425564 1 33026505 33028034 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903634 M 3202 0 1 ZBTB8A nsv5829994 1 33028800 33036401 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462387 M 914 0 0 ZBTB8A nsv6329970 1 33030673 33031857 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060472 M 19652 0 1 ZBTB8A nsv461039 1 33032412 33150951 CNV loss Itsara_et_al_2009 19166990 Oligo aCGH,SNP array nssv537491 M 1557 0 1 RBBP4,SYNC,ZBTB8A,ZBTB8OS HGDP00017 nsv545961 1 33032412 33150951 CNV loss Cooper_et_al_2011 21841781 Oligo aCGH,SNP array nssv1173811 M 17421 0 1 RBBP4,SYNC,ZBTB8A,ZBTB8OS HGDP00017 nsv5683692 1 33033449 33033449 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17205757,nssv17198158 M 3202 2 0 ZBTB8A nsv6320344 1 33034155 33038727 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060473 M 19652 0 1 ZBTB8A esv2746508 1 33035477 33036829 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6797470 M 96 0 1 ZBTB8A SSM072 nsv5425785 1 33038084 33039275 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903635 M 3202 1 0 ZBTB8A nsv5829838 1 33038952 33042651 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17462303 M 914 0 0 ZBTB8A nsv6545593 1 33039189 33039607 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250853 M 19652 0 0 ZBTB8A nsv3212518 1 33046057 33047494 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14274237 M 9 1 0 ZBTB8A HG00731 nsv5983797 1 33046381 33046585 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17523093 M 405 0 1 ZBTB8A esv2576617 1 33046583 33047257 CNV insertion McKernan_et_al_2009 19546169 Sequencing essv5236514 M 1 1 0 ZBTB8A NA18507 nsv512732 1 33046606 33047609 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625358 M 1 1 0 ZBTB8A 1 nsv4444837 1 33046680 33046680 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15761010 M 1 1 0 ZBTB8A nsv4755462 1 33046681 33046681 CNV insertion Quan_et_al_2021 34034800 Sequencing nssv16286355 M 25 1 0 ZBTB8A nsv4732234 1 33046681 33047349 CNV duplication Quan_et_al_2021 34034800 Sequencing nssv16291264 M 25 1 0 ZBTB8A nsv3540404 1 33046783 33046783 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14440913,nssv14383301 M 9 2 0 ZBTB8A HG00733,NA19240 nsv3925190 1 33046783 33046783 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15192395 M 1 1 0 ZBTB8A HG002 nsv5614545 1 33046783 33046783 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064751 M 35 1 0 ZBTB8A HG00731 nsv6049377 1 33046783 33046783 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17525863 M 405 1 0 ZBTB8A nsv2801926 1 33046784 33046784 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13685813,nssv13678216 M 2 2 0 ZBTB8A nsv3324559 1 33046784 33046784 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14485845,nssv14488017,nssv14479661,nssv14489518,nssv14479804,nssv14485050,nssv14474272,nssv14474815,nssv14489258,nssv14483813,nssv14477964,nssv14488340,nssv14484629 M 14 13 0 ZBTB8A CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HX1,NA12878,NA19240,NA19434 esv1277305 1 33046788 33046788 CNV insertion Levy_et_al_2007 17803354 Merging,Oligo aCGH,Sequencing,SNP array essv3891525 M 2 1 0 ZBTB8A HuRef nsv3056162 1 33046794 33046794 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14028630 M 2 1 0 ZBTB8A NA12878 nsv3539560 1 33046824 33046824 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413552 M 9 1 0 ZBTB8A HG00514 nsv3531487 1 33046926 33046926 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14413553 M 9 1 0 ZBTB8A HG00514 nsv6553141 1 33048878 33050153 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250854 M 19652 0 0 ZBTB8A nsv5876423 1 33049926 33056996 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17378014 M 914 0 1 ZBTB8A esv2671633 1 33049926 33056997 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6178473,essv6040767,essv5604444 M 1151 0 3 ZBTB8A HG01342,NA18912,NA19248 esv3585672 1 33049926 33056997 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896440,essv9896444,essv9896443,essv9896446,essv9896442,essv9896447,essv9896441,essv9896445,essv9896439,essv9896438 M 2504 0 10 ZBTB8A HG01302,HG01342,HG02860,HG02952,HG03077,HG03279,NA18912,NA19200,NA19248,NA19324 nsv4039625 1 33049931 33056997 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850340 M 10847 0 1 ZBTB8A nsv5421720 1 33049931 33056997 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903638 M 3202 0 1 ZBTB8A nsv6323318 1 33049931 33056997 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060307 M 19652 0 1 ZBTB8A nsv6549093 1 33050611 33051588 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250855 M 19652 0 0 ZBTB8A dgv38n209 1 33051333 33057869 OTHER complex Almarri_et_al_2020 32531199 Sequencing nsv5829839,nsv5829697 M 914 0 0 ZBTB8A esv3693312 1 33051960 33055668 CNV loss Palta_et_al_2015 25853576 SNP array essv16507721 M 199 0 1 ZBTB8A NA19200 nsv6325174 1 33052802 33054501 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060308 M 19652 0 1 ZBTB8A nsv4461356 1 33054242 33054243 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023480 M 10847 1 0 ZBTB8A nsv6541876 1 33054562 33055190 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250856 M 19652 0 0 ZBTB8A nsv5879573 1 33054894 33055192 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17379891 M 914 0 1 ZBTB8A nsv5883787 1 33054967 33058293 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17375424 M 914 0 1 ZBTB8A nsv6332704 1 33055056 33058217 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060309 M 19652 0 1 ZBTB8A esv3683370 1 33061177 33061258 CNV deletion Besenbacher_et_al_2015 25597990 Sequencing essv16468110 M 20 0 1 ZBTB8A dgv153n223 1 33061387 33061966 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nsv6546610,nsv6549158 M 19652 0 0 ZBTB8A esv3893501 1 33062554 33087437 CNV loss Suktitipat_et_al_2014 25118596 SNP array essv25783915 M 3017 0 1 ZBTB8A,ZBTB8OS nsv5872074 1 33065118 33066874 CNV duplication Almarri_et_al_2020 32531199 Sequencing nssv17386932 M 914 1 0 ZBTB8A nsv5829840 1 33066038 33067137 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17457220,nssv17466619 M 914 0 0 ZBTB8A nsv6546180 1 33067691 33068203 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250859 M 19652 0 0 ZBTB8A esv3665123 1 33067929 33067929 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487814 M 20 1 0 ZBTB8A nsv4050740 1 33070501 33070555 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850341 M 10847 0 1 ZBTB8A nsv4039229 1 33071416 33071728 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966201 M 10847 1 0 ZBTB8A esv3665134 1 33075798 33075798 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487824 M 20 1 0 "" nsv6550769 1 33079618 33082554 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250860 M 19652 0 0 "" esv3674812 1 33079828 33079914 OTHER sequence alteration Besenbacher_et_al_2015 25597990 Sequencing essv16496534 M 20 0 0 "" nsv4048129 1 33082861 33083222 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850342 M 10847 0 1 "" nsv6330009 1 33084151 33118240 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203607 M 19652 1 0 RBBP4,ZBTB8OS esv3585673 1 33084977 33088485 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896448 M 2504 0 1 ZBTB8OS HG01438 nsv5429890 1 33085019 33088518 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903639 M 3202 0 1 ZBTB8OS nsv6331649 1 33085019 33088518 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060310 M 19652 0 1 ZBTB8OS nsv4045782 1 33085059 33086934 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850343 M 10847 0 1 "" nsv519188 1 33085244 33246440 CNV loss Shaikh_et_al_2009 19592680 SNP array nssv696672 M 2026 0 1 KIAA1522,RBBP4,SYNC,YARS,ZBTB8OS nsv6536643 1 33091144 33091502 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250861 M 19652 0 0 ZBTB8OS nsv5872267 1 33093866 33096521 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17380441 M 914 0 1 ZBTB8OS nsv5830293 1 33094113 33096563 OTHER complex Almarri_et_al_2020 32531199 Sequencing nssv17465521 M 914 0 0 ZBTB8OS nsv5875040 1 33094204 33094504 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17386183 M 914 0 1 ZBTB8OS nsv6544971 1 33095406 33095994 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250862 M 19652 0 0 ZBTB8OS nsv1113098 1 33095445 33095511 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967992 M 2 0 1 ZBTB8OS KWS2 nsv6554183 1 33096950 33097623 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250863 M 19652 0 0 ZBTB8OS nsv6320892 1 33099899 33122118 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203608 M 19652 1 0 RBBP4,ZBTB8OS nsv4040752 1 33101000 33112000 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850346 M 10847 0 1 ZBTB8OS nsv5874578 1 33102049 33102921 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17384877 M 914 0 1 ZBTB8OS esv2667534 1 33102049 33102922 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv5420948,essv5869961,essv5711338,essv5609534 M 1151 0 4 ZBTB8OS NA18519,NA19099,NA19403,NA19921 esv3585674 1 33102049 33102922 CNV loss 1000_Genomes_Consortium_Phase_3 21293372 Sequencing essv9896450,essv9896461,essv9896458,essv9896449,essv9896460,essv9896457,essv9896455,essv9896459,essv9896454,essv9896452,essv9896451,essv9896453,essv9896456 M 2504 0 13 ZBTB8OS HG02013,HG02465,HG02595,HG02643,HG02938,HG02941,HG03172,HG03295,NA18519,NA19092,NA19099,NA19403,NA19921 nsv6328411 1 33102081 33102885 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060311 M 19652 0 1 ZBTB8OS nsv5416069 1 33102082 33102934 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903641 M 3202 0 1 ZBTB8OS nsv4037931 1 33102082 33102937 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850347 M 10847 0 1 ZBTB8OS nsv5983936 1 33103905 33104172 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527692 M 405 0 1 ZBTB8OS nsv5416363 1 33104658 33109378 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903642 M 3202 0 1 ZBTB8OS nsv6322943 1 33104658 33109380 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060312 M 19652 0 1 ZBTB8OS nsv6537390 1 33104659 33107627 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250864 M 19652 0 0 ZBTB8OS nsv5556616 1 33104659 33109378 OTHER sequence alteration Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903643 M 3202 0 0 ZBTB8OS nsv3221494 1 33104806 33117736 CNV insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14262798,nssv14262793,nssv14262791,nssv14262797,nssv14262796,nssv14262792,nssv14262302,nssv14262795,nssv14262794 M 9 9 0 RBBP4,ZBTB8OS HG00512,HG00513,HG00514,HG00731,HG00732,HG00733,NA19238,NA19239,NA19240 nsv6549561 1 33107978 33108390 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250865 M 19652 0 0 ZBTB8OS nsv5983798 1 33108001 33108064 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17527341 M 405 0 1 ZBTB8OS nsv512733 1 33108125 33108153 CNV insertion Arlt_et_al_2011 21212237 Sequencing,SNP array nssv625359 M 1 1 0 ZBTB8OS 1 nsv2801189 1 33108378 33108378 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13683270 M 2 1 0 ZBTB8OS nsv3523984 1 33108378 33108378 CNV alu insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14388713,nssv14413554,nssv14440914 M 9 3 0 ZBTB8OS HG00514,HG00733,NA19240 nsv3561962 1 33108378 33108378 CNV sva insertion Chaisson_et_al_2019 30992455 Merging,Optical mapping,Sequencing nssv14360196,nssv14360199,nssv14360200,nssv14360197,nssv14360198,nssv14360195,nssv14360194 M 9 7 0 ZBTB8OS HG00513,HG00514,HG00731,HG00733,NA19238,NA19239,NA19240 nsv3928414 1 33108378 33108378 CNV insertion Wenger_et_al_2019 31406327 Sequencing nssv15193908 M 1 1 0 ZBTB8OS HG002 nsv4444838 1 33108378 33108378 CNV insertion Genome_in_a_Bottle 32541955 Sequencing nssv15757535 M 1 1 0 ZBTB8OS nsv5608881 1 33108378 33108378 CNV insertion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17064753 M 35 1 0 ZBTB8OS HG00731 nsv2801190 1 33108379 33108379 CNV insertion Huddleston_et_al_2016 27895111 Sequencing nssv13678868 M 2 1 0 ZBTB8OS nsv3323609 1 33108379 33108379 CNV insertion Audano_et_al_2019 30661756 Sequencing nssv14479032,nssv14485014,nssv14472114,nssv14474823,nssv14485771,nssv14472377,nssv14477032,nssv14489500,nssv14483754,nssv14473715,nssv14472689,nssv14476605,nssv14485075,nssv14491289 M 14 14 0 ZBTB8OS CHM1,CHM13,HG00268,HG00514,HG00733,HG01352,HG02059,HG02106,HG02818,HG04217,HX1,NA12878,NA19240,NA19434 nsv6046881 1 33108380 33108380 CNV insertion Wu_et_al_2021 34764282 Sequencing nssv17530872 M 405 1 0 ZBTB8OS nsv5983937 1 33108382 33108668 CNV duplication Wu_et_al_2021 34764282 Sequencing nssv17531001 M 405 1 0 ZBTB8OS nsv3058860 1 33108387 33108387 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14017407 M 2 1 0 ZBTB8OS CHM1 nsv3053584 1 33108391 33108391 CNV insertion Fan_et_al_2017 28104618 Sequencing nssv14033120 M 2 1 0 ZBTB8OS NA12878 esv2746519 1 33111008 33111893 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6972386 M 96 0 1 ZBTB8OS SSM029 nsv4566931 1 33112333 33112334 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023481 M 10847 1 0 ZBTB8OS nsv4461126 1 33113927 33113928 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023482 M 10847 1 0 ZBTB8OS nsv160489 1 33119261 33124151 CNV deletion Mills_et_al_2006 16902084 Sequencing nssv179067 M 24 RBBP4 nsv4049538 1 33124660 33124717 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850348 M 10847 0 1 RBBP4 nsv5983799 1 33124752 33124816 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17532439 M 405 0 1 RBBP4 nsv4038451 1 33125082 33125147 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850349 M 10847 0 1 RBBP4 nsv4568019 1 33126827 33126828 CNV sva insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023484 M 10847 1 0 RBBP4 nsv5420813 1 33128081 33132062 CNV duplication Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903646 M 3202 1 0 RBBP4 nsv6541647 1 33128107 33128479 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250866 M 19652 0 0 RBBP4 nsv6320237 1 33128112 33132001 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060313 M 19652 0 1 RBBP4 nsv1113099 1 33128389 33128456 CNV deletion Alsmadi_et_al_2014 24896259 Sequencing nssv3967993 M 2 0 1 RBBP4 KWS2 nsv4035671 1 33128661 33128921 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850350 M 10847 0 1 RBBP4 nsv6550114 1 33130142 33131135 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250867 M 19652 0 0 RBBP4 nsv945872 1 33131858 33135097 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758397,nssv1758438,nssv1758451,nssv1758433,nssv1758383,nssv1758439,nssv1758405,nssv1758406,nssv1758447,nssv1758418,nssv1758374,nssv1758436,nssv1758394,nssv1758410,nssv1758395,nssv1758456,nssv1758389,nssv1758432,nssv1758449,nssv1758441,nssv1758393,nssv1758419,nssv1758454,nssv1758457,nssv1758385,nssv1758408,nssv1758398,nssv1758442,nssv1758399,nssv1758424,nssv1758396,nssv1758415,nssv1758391,nssv1758423,nssv1758448,nssv1758412,nssv1758372,nssv1758434,nssv1758387,nssv1758463,nssv1758376,nssv1758420,nssv1758400,nssv1758437,nssv1758379,nssv1758430,nssv1758384,nssv1758429,nssv1758386,nssv1758443,nssv1758404,nssv1758407,nssv1758392,nssv1758460,nssv1758380,nssv1758416,nssv1758401,nssv1758421,nssv1758450,nssv1758462,nssv1758381,nssv1758440,nssv1758368,nssv1758426,nssv1758402,nssv1758417,nssv1758388,nssv1758428,nssv1758445,nssv1758458,nssv1758452,nssv1758455,nssv1758403,nssv1758431,nssv1758390,nssv1758461,nssv1758446,nssv1758413,nssv1758375,nssv1758409,nssv1758373,nssv1758427,nssv1758382,nssv1758422,nssv1758377,nssv1758414,nssv1758370,nssv1758411,nssv1758378,nssv1758444,nssv1758371,nssv1758425,nssv1758369,nssv1758464,nssv1758453,nssv1758459,nssv1758435 M 97 10 0 RBBP4 HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 esv3429895 1 33136170 33136177 CNV insertion 1000_Genomes_Consortium_Pilot_Project 20981092 Digital array,Oligo aCGH,PCR,Sequencing essv7863688 M 185 1 0 RBBP4 NA12005 nsv6329320 1 33139511 33141106 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060314 M 19652 0 1 RBBP4 nsv6544639 1 33140372 33141585 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250868 M 19652 0 0 RBBP4 nsv5983938 1 33142130 33142549 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17536178 M 405 0 1 RBBP4 nsv4040153 1 33142132 33142549 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850351 M 10847 0 1 RBBP4 nsv945873 1 33145306 33146109 CNV duplication Sudmant_et_al_2013 23825009 Oligo aCGH,Sequencing nssv1758469,nssv1758541,nssv1758499,nssv1758555,nssv1758487,nssv1758530,nssv1758546,nssv1758511,nssv1758549,nssv1758512,nssv1758478,nssv1758553,nssv1758485,nssv1758560,nssv1758481,nssv1758557,nssv1758471,nssv1758522,nssv1758492,nssv1758532,nssv1758494,nssv1758508,nssv1758491,nssv1758510,nssv1758551,nssv1758561,nssv1758543,nssv1758552,nssv1758502,nssv1758518,nssv1758484,nssv1758556,nssv1758486,nssv1758537,nssv1758477,nssv1758536,nssv1758489,nssv1758516,nssv1758544,nssv1758535,nssv1758476,nssv1758554,nssv1758501,nssv1758515,nssv1758473,nssv1758519,nssv1758500,nssv1758507,nssv1758493,nssv1758531,nssv1758547,nssv1758505,nssv1758479,nssv1758533,nssv1758496,nssv1758538,nssv1758498,nssv1758529,nssv1758495,nssv1758521,nssv1758548,nssv1758534,nssv1758490,nssv1758559,nssv1758480,nssv1758503,nssv1758545,nssv1758523,nssv1758483,nssv1758520,nssv1758542,nssv1758528,nssv1758470,nssv1758526,nssv1758472,nssv1758539,nssv1758488,nssv1758540,nssv1758482,nssv1758525,nssv1758465,nssv1758504,nssv1758497,nssv1758527,nssv1758466,nssv1758509,nssv1758467,nssv1758506,nssv1758474,nssv1758513,nssv1758550,nssv1758514,nssv1758468,nssv1758558,nssv1758475,nssv1758524,nssv1758517 M 97 10 0 RBBP4,SYNC HGDP00456,HGDP00521,HGDP00542,HGDP00665,HGDP00778,HGDP00927,HGDP00998,HGDP01029,HGDP01284,HGDP01307 nsv4049573 1 33145494 33145626 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850352 M 10847 0 1 RBBP4,SYNC nsv5432409 1 33145494 33145626 CNV deletion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903647 M 3202 0 1 RBBP4,SYNC nsv6542685 1 33152980 33153457 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250869 M 19652 0 0 SYNC nsv6330606 1 33153626 33154803 CNV duplication Sedlazeck_et_al_2020 99999999 Sequencing nssv18203609 M 19652 1 0 SYNC nsv6544042 1 33154551 33155557 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250870 M 19652 0 0 SYNC nsv4049669 1 33154685 33155277 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850354 M 10847 0 1 SYNC nsv4040590 1 33155998 33161793 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850355 M 10847 0 1 SYNC esv2746530 1 33156617 33156895 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6710607,essv6689281 M 96 0 2 SYNC SSM036,SSM042 nsv1075806 1 33156747 33156936 CNV deletion Thareja_et_al_2015 25765185 Sequencing nssv3772475 M 1 0 1 SYNC KWP1 esv3560438 1 33156754 33156938 CNV deletion Boomsma_et_al_2014 23714750 Sequencing essv9759185 M 767 0 1 SYNC esv2746541 1 33156755 33156966 CNV deletion Wong_et_al_2012b 23290073 Sequencing essv6759067 M 96 0 1 SYNC SSM061 nsv5573764 1 33156761 33156937 CNV deletion Ebert_et_al_2021 33632895 Merging,Optical mapping,Sequencing nssv17065126 M 35 0 1 SYNC NA24385 nsv5876811 1 33156761 33156937 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17378924 M 914 0 1 SYNC esv2661423 1 33156761 33156938 CNV deletion 1000_Genomes_Consortium_Phase_1 23128226 Merging,Oligo aCGH,PCR,Sequencing,SNP array essv6136065,essv5850265,essv6529232,essv5669649,essv6451437,essv5697463,essv5893252,essv6434720,essv6569317,essv6513711,essv5626364,essv5615463,essv6595588,essv5978534,essv5709829,essv6092459,essv6541687,essv5692554,essv6283654,essv5457670,essv6145103,essv6024792,essv6592644,essv5800960,essv5435021,essv5777029,essv6213100,essv5477077,essv6231301,essv5519820,essv5903304,essv5606933,essv5767375,essv5773803,essv5486193,essv6062336,essv6113415,essv5739439,essv6152250,essv6567607,essv5592148,essv6478421,essv6052404,essv6569476,essv6191840,essv6577491,essv6565155,essv5996325,essv6501981,essv6070987,essv5650373,essv5524979,essv5630010,essv6117821,essv6401881 M 1151 0 55 SYNC HG00259,HG00311,HG00421,HG00436,HG00437,HG00449,HG00463,HG00472,HG00500,HG00531,HG00543,HG00589,HG00590,HG00593,HG00619,HG00663,HG00698,HG01047,HG01051,HG01079,HG01082,HG01124,HG01133,HG01137,HG01149,HG01188,HG01204,HG01356,HG01357,HG01366,HG01374,HG01440,HG01488,HG01551,NA07347,NA12829,NA18526,NA18532,NA18548,NA18558,NA18576,NA18596,NA18597,NA18599,NA18603,NA18620,NA18635,NA18636,NA18953,NA18964,NA18977,NA18987,NA19663,NA19676,NA19750 nsv3948298 1 33156761 33156938 CNV deletion Wenger_et_al_2019 31406327 Sequencing nssv15182080 M 1 0 1 SYNC HG002 nsv4449511 1 33156761 33156938 CNV deletion Genome_in_a_Bottle 32541955 Sequencing nssv15765355 M 1 0 1 SYNC nsv5983939 1 33156761 33156938 CNV deletion Wu_et_al_2021 34764282 Sequencing nssv17519983 M 405 0 1 SYNC nsv3323610 1 33156762 33156938 CNV alu deletion Audano_et_al_2019 30661756 Sequencing nssv14474912 M 14 0 1 SYNC HG02106 nsv4745233 1 33156765 33156943 CNV deletion Quan_et_al_2021 34034800 Sequencing nssv16289858 M 25 0 1 SYNC nsv6329395 1 33156902 33158201 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060315 M 19652 0 1 SYNC nsv509158 1 33157314 33249421 CNV insertion Teague_et_al_2010 20534489 BAC aCGH,Oligo aCGH,Optical mapping,Sequencing nssv619789 M 4 1 0 KIAA1522,SYNC,YARS NA10860 nsv6316103 1 33157758 33160180 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060316 M 19652 0 1 SYNC nsv6542311 1 33158355 33158811 OTHER inversion Sedlazeck_et_al_2020 99999999 Sequencing nssv18250871 M 19652 0 0 SYNC nsv4032698 1 33161256 33161476 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850356 M 10847 0 1 SYNC nsv4051569 1 33166022 33166082 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850357 M 10847 0 1 SYNC esv3665147 1 33166476 33166476 CNV insertion Besenbacher_et_al_2015 25597990 Sequencing essv16487836 M 20 1 0 SYNC nsv5873998 1 33170292 33170609 CNV deletion Almarri_et_al_2020 32531199 Sequencing nssv17382053 M 914 0 1 "" nsv6332887 1 33170788 33183915 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060317 M 19652 0 1 "" nsv6333194 1 33170937 33176579 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060318 M 19652 0 1 "" nsv4051860 1 33170957 33176579 CNV deletion gnomAD_Structural_Variants 32461652 Sequencing nssv15850358 M 10847 0 1 "" nsv6320211 1 33171661 33172229 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060319 M 19652 0 1 "" nsv4461127 1 33172689 33172690 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023485 M 10847 1 0 "" nsv4036838 1 33175013 33192362 CNV duplication gnomAD_Structural_Variants 32461652 Sequencing nssv15966202 M 10847 1 0 "" nsv311 1 33176459 33196345 CNV insertion Kidd_et_al_2008 18451855 FISH,Multiple complete digestion,Oligo aCGH,Sequencing nssv8951 M 9 1 0 "" NA12156 nsv6315910 1 33176461 33179253 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060320 M 19652 0 1 "" nsv6331812 1 33179647 33186782 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060321 M 19652 0 1 "" nsv6317321 1 33180670 33180975 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060322 M 19652 0 1 "" nsv6321417 1 33180896 33200494 CNV deletion Sedlazeck_et_al_2020 99999999 Sequencing nssv18060323 M 19652 0 1 "" nsv4460824 1 33184957 33184958 CNV alu insertion gnomAD_Structural_Variants 32461652 Sequencing nssv16023486 M 10847 1 0 "" nsv5685483 1 33184971 33184971 CNV alu insertion Chuang_et_al_2021 34772701 Sequencing nssv17197569 M 3202 1 0 "" nsv5407290 1 33184971 33185022 CNV alu insertion Byrska_Bishop_et_al_2022 36055201 Sequencing nssv16903648 M 3202 1 0 "