A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515167



Internal ID15466801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120872646..120990097hg38UCSC Ensembl
InnerchrX:120006500..120123951hg19UCSC Ensembl
InnerchrX:119890528..119951632hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38117452
hg19117452
hg1861105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2979982, nssv2979050, nssv2980086, nssv2979218, nssv2979192, nssv2978966, nssv2979061, nssv2978919, nssv2979999, nssv2980084, nssv2979180, nssv2979160, nssv2978931, nssv2978979, nssv2979227, nssv2980108, nssv2978941, nssv2980079, nssv2980028, nssv2979151, nssv2979221, nssv2979142, nssv2980024, nssv2980069, nssv2979185, nssv2980094, nssv2979078, nssv2980104, nssv2978993, nssv2979024, nssv2978995, nssv2979095, nssv2980092, nssv2979070, nssv2979991, nssv2978949, nssv2979028, nssv2979005, nssv2979147, nssv2979115, nssv2979226, nssv2979129, nssv2979195, nssv2979141, nssv2979213, nssv2979123, nssv2978951, nssv2979155, nssv2979203, nssv2978916, nssv2978958, nssv2979228, nssv2980019, nssv2979202, nssv2978948, nssv2980111, nssv2980039, nssv2979167, nssv2979073, nssv2980044, nssv2978922, nssv2979992, nssv2978932, nssv2979126, nssv2980037, nssv2979040, nssv2978937, nssv2979015, nssv2979189, nssv2980052, nssv2980097, nssv2979985, nssv2979088, nssv2980036, nssv2980035, nssv2979154, nssv2978933, nssv2979995, nssv2979066, nssv2979148, nssv2980015, nssv2979173, nssv2979134, nssv2979107, nssv2979979, nssv2980100, nssv2978898, nssv2979176, nssv2979118, nssv2979062, nssv2979183, nssv2979133, nssv2979179, nssv2979087, nssv2978940, nssv2980078, nssv2980048, nssv2979170, nssv2979021, nssv2978924, nssv2979084, nssv2979101, nssv2978989, nssv2978996, nssv2978982, nssv2978914, nssv2979096, nssv2978950, nssv2979996, nssv2979038, nssv2980063, nssv2978984, nssv2979171, nssv2979064, nssv2980029, nssv2980010, nssv2979150, nssv2979081, nssv2979046, nssv2979060, nssv2980087, nssv2980065, nssv2978965, nssv2980085, nssv2980057, nssv2978895, nssv2978906, nssv2980076, nssv2979108, nssv2979217, nssv2979187, nssv2979165, nssv2979094, nssv2979010, nssv2978975, nssv2978955, nssv2979159, nssv2980018, nssv2979229, nssv2979164, nssv2979132, nssv2979152, nssv2979072, nssv2980008, nssv2979974, nssv2979197, nssv2980043, nssv2979089, nssv2978967, nssv2978926, nssv2979161, nssv2978907, nssv2980064, nssv2978988, nssv2980023, nssv2980071, nssv2980101, nssv2978927, nssv2979994, nssv2980040, nssv2978915, nssv2979036, nssv2979080, nssv2979079, nssv2979140, nssv2979012, nssv2978962, nssv2979172, nssv2980014, nssv2979065, nssv2980119, nssv2978905, nssv2980077, nssv2980050, nssv2978909, nssv2978978, nssv2979067, nssv2978986, nssv2979075, nssv2979153, nssv2978928, nssv2978990, nssv2980075, nssv2979113, nssv2980099, nssv2979976, nssv2978901, nssv2979199, nssv2978904, nssv2979194, nssv2979971, nssv2978976, nssv2979174, nssv2979016, nssv2979097, nssv2978953, nssv2980093, nssv2980103, nssv2979112, nssv2980112, nssv2979054, nssv2979231, nssv2979990, nssv2979029, nssv2979083, nssv2980038, nssv2980045, nssv2979182, nssv2979099, nssv2979117, nssv2978910, nssv2978894, nssv2978911, nssv2979114, nssv2980096, nssv2979027, nssv2978921, nssv2980113, nssv2978999, nssv2979149, nssv2978918, nssv2978997, nssv2980000, nssv2980083, nssv2979056, nssv2979206, nssv2979127, nssv2980106, nssv2979030, nssv2980016, nssv2978939, nssv2979973, nssv2979216, nssv2980080, nssv2980054, nssv2980090, nssv2979116, nssv2979053, nssv2978971, nssv2978930, nssv2979984, nssv2979993, nssv2979989, nssv2979972, nssv2979975, nssv2978902, nssv2978942, nssv2978952, nssv2980089, nssv2979978, nssv2979045, nssv2979025, nssv2980030, nssv2979184, nssv2979119, nssv2978936, nssv2979106, nssv2979156, nssv2979059, nssv2978947, nssv2979058, nssv2980021, nssv2979034, nssv2979980, nssv2979044, nssv2980002, nssv2980070, nssv2979211, nssv2978960, nssv2980110, nssv2979225, nssv2979169, nssv2980042, nssv2979017, nssv2979023, nssv2978964, nssv2979042, nssv2978929, nssv2979103, nssv2979032, nssv2979048, nssv2978938, nssv2980031, nssv2979111, nssv2978917, nssv2980114, nssv2979986, nssv2979128, nssv2980062, nssv2979157, nssv2978970, nssv2978934, nssv2979988, nssv2980012, nssv2979000, nssv2979120, nssv2979019, nssv2979033, nssv2978973, nssv2979104, nssv2979008, nssv2980006, nssv2979983, nssv2980102, nssv2980007, nssv2979219, nssv2979139, nssv2979168, nssv2980051, nssv2979020, nssv2980009, nssv2980107, nssv2979207, nssv2980082, nssv2980073, nssv2980105, nssv2979057, nssv2978908, nssv2979003, nssv2980049, nssv2980068, nssv2979049, nssv2978897, nssv2979143, nssv2979145, nssv2979178, nssv2978974, nssv2978994, nssv2979043, nssv2980067, nssv2980003, nssv2980109, nssv2979100, nssv2978959, nssv2979086, nssv2978956, nssv2978981, nssv2979232, nssv2979188, nssv2979230, nssv2978998, nssv2979068, nssv2979102, nssv2980117, nssv2979037, nssv2979186, nssv2979041, nssv2980053, nssv2978944, nssv2978969, nssv2979009, nssv2979987, nssv2979137, nssv2979220, nssv2979136, nssv2979204, nssv2980115, nssv2979018, nssv2980060, nssv2978896, nssv2979031, nssv2980058, nssv2980055, nssv2979105, nssv2979014, nssv2978963, nssv2978954, nssv2979981, nssv2980011, nssv2978991, nssv2980061, nssv2980041, nssv2979163, nssv2979074, nssv2978980, nssv2980017, nssv2979130, nssv2980072, nssv2979177, nssv2980025, nssv2979200, nssv2979158, nssv2979013, nssv2979146, nssv2979162, nssv2979191, nssv2978985, nssv2978945, nssv2979208, nssv2979193, nssv2979076, nssv2979022, nssv2978977, nssv2980046, nssv2979001, nssv2978903, nssv2980095, nssv2979131, nssv2978992, nssv2980026, nssv2980091, nssv2980047, nssv2979977, nssv2979209, nssv2979212, nssv2980034, nssv2979224, nssv2979144, nssv2979007, nssv2979181, nssv2979222, nssv2979125, nssv2979069, nssv2980022, nssv2980004, nssv2980098, nssv2980027, nssv2979223, nssv2980118, nssv2980033, nssv2979082, nssv2980056, nssv2980081, nssv2978920, nssv2980066, nssv2978943, nssv2979201, nssv2978961, nssv2979110, nssv2979166, nssv2979011, nssv2979196, nssv2978923, nssv2979051, nssv2978983, nssv2978957, nssv2979124, nssv2979135, nssv2980059, nssv2979004, nssv2979063, nssv2979052, nssv2979039, nssv2979210, nssv2979198, nssv2979109, nssv2979026, nssv2979098, nssv2980013, nssv2979122, nssv2978925, nssv2980116, nssv2979047, nssv2980074, nssv2978899, nssv2979215, nssv2978972, nssv2978935, nssv2980088, nssv2979006, nssv2978946, nssv2980005, nssv2979175, nssv2979071, nssv2978912, nssv2980032, nssv2978987, nssv2979085, nssv2979093, nssv2979055, nssv2979998, nssv2979205, nssv2979091, nssv2979138, nssv2979190, nssv2979092, nssv2979121, nssv2979090, nssv2979035, nssv2979997, nssv2978968, nssv2980020, nssv2979214, nssv2978913, nssv2980001, nssv2979077, nssv2978900, nssv2979002
SamplesNA21636, NA21317, NA21488, NA18621, NA18947, NA18524, NA12414, NA12843, NA11920, NA18999, NA12751, NA21489, NA12801, NA18504, NA12146, NA21475, NA21635, NA12832, NA18633, NA12750, NA12813, NA19127, NA19192, NA19171, NA10835, NA21359, NA18995, NA12336, NA19191, NA18558, NA18547, NA18960, NA18916, NA07048, NA21479, NA11918, NA18582, NA18949, NA18868, NA07014, NA19172, NA10850, NA21523, NA19239, NA21387, NA21400, NA18867, NA12777, NA21307, NA18605, NA12760, NA12489, NA19120, NA19175, NA12878, NA19184, NA12718, NA18572, NA18948, NA21438, NA18981, NA12234, NA18907, NA18537, NA12818, NA19177, NA19142, NA18875, NA12829, NA11893, NA19181, NA11840, NA18532, NA06989, NA12145, NA18523, NA19132, NA12778, NA10856, NA21309, NA18593, NA21316, NA21608, NA19256, NA18517, NA18863, NA18564, NA19140, NA12873, NA21718, NA21388, NA12763, NA12347, NA19182, NA19117, NA19223, NA18609, NA19102, NA18873, NA21384, NA19121, NA19129, NA18624, NA21487, NA18612, NA10837, NA18487, NA18577, NA11832, NA21403, NA18998, NA18497, NA19237, NA21686, NA21477, NA19186, NA18924, NA19249, NA11995, NA18592, NA12814, NA12767, NA18980, NA12236, NA21476, NA19122, NA18507, NA18603, NA12045, NA19092, NA12004, NA21717, NA12058, NA10857, NA19190, NA19098, NA12400, NA12341, NA18550, NA12812, NA18489, NA21526, NA18635, NA18860, NA19131, NA18942, NA19197, NA12287, NA18498, NA12761, NA12282, NA12005, NA21447, NA21382, NA21512, NA21525, NA21453, NA12889, NA12815, NA19159, NA21716, NA19189, NA21601, NA21362, NA19209, NA12828, NA18908, NA12375, NA18973, NA12748, NA19007, NA19247, NA12753, NA10863, NA12872, NA18859, NA18991, NA21439, NA18910, NA19097, NA19221, NA19118, NA19000, NA07031, NA18518, NA18499, NA12892, NA12239, NA18853, NA19225, NA06985, NA21583, NA19160, NA18576, NA18978, NA11882, NA19183, NA11881, NA19108, NA18952, NA12864, NA12775, NA07051, NA21615, NA19193, NA18869, NA21513, NA19143, NA19109, NA19248, NA21404, NA19173, NA18987, NA12749, NA12830, NA18506, NA21614, NA21486, NA18972, NA18552, NA21303, NA07056, NA19146, NA19148, NA21514, NA21440, NA10864, NA19153, NA12383, NA19258, NA12717, NA12842, NA21524, NA21423, NA12286, NA19204, NA18862, NA18861, NA18508, NA10851, NA12273, NA18855, NA18935, NA12344, NA21310, NA18925, NA12340, NA18959, NA21301, NA21360, NA21522, NA18510, NA12399, NA18969, NA19107, NA07346, NA18563, NA18940, NA18519, NA10846, NA12802, NA18923, NA07347, NA18571, NA21493, NA21381, NA21365, NA21391, NA19130, NA11930, NA12275, NA19199, NA19123, NA12156, NA12044, NA11994, NA19235, NA19207, NA19128, NA18966, NA18990, NA10839, NA21344, NA21313, NA12752, NA07022, NA19194, NA19161, NA18933, NA12485, NA18485, NA12877, NA18579, NA18871, NA19103, NA21366, NA19208, NA19202, NA18573, NA11919, NA19150, NA12386, NA19151, NA18930, NA12056, NA19154, NA18857, NA19099, NA18555, NA19252, NA12144, NA18570, NA12546, NA19012, NA18974, NA12043, NA18953, NA19003, NA18632, NA06991, NA19115, NA19149, NA19147, NA12272, NA21390, NA07348, NA21361, NA18501, NA18484, NA06994, NA07435, NA19178, NA10843, NA07349, NA19211, NA19093, NA18636, NA18509, NA12329, NA19185, NA12875, NA11843, NA19116, NA18872, NA21363, NA11892, NA18968, NA12890, NA12154, NA19214, NA18620, NA18997, NA19141, NA19222, NA11830, NA21383, NA11829, NA10845, NA21399, NA19145, NA18917, NA18486, NA18545, NA21648, NA21386, NA12248, NA18870, NA12155, NA07357, NA18967, NA19005, NA19201, NA21600, NA19119, NA19198, NA12891, NA12348, NA11992, NA21401, NA12283, NA19138, NA18964, NA06993, NA18611, NA11917, NA18970, NA07019, NA19180, NA18874, NA12274, NA06984, NA21454, NA19137, NA21478, NA10855, NA21634, NA21442, NA18975, NA19200, NA21494, NA11993, NA11831, NA10847, NA21599, NA21480, NA12335, NA19210, NA18934, NA10836, NA12343, NA10831, NA19152, NA18956, NA19205, NA19236, NA18516, NA18637, NA12376, NA18503, NA11839, NA10838, NA21485, NA19179, NA18566, NA21441, NA19114, NA11894, NA10830, NA18856, NA12249, NA19113, NA12827, NA12264, NA12817, NA19101, NA10852, NA19257, NA12766, NA19095, NA18945, NA21302, NA18608, NA19094, NA06995, NA19206, NA18542, NA12716, NA18909, NA18961, NA10859, NA19240, NA19174, NA21425, NA19100, NA19144, NA18992, NA10840, NA12874, NA07037, NA07055, NA18911, NA06986, NA18594, NA12708, NA12740, NA18971, NA21580, NA18994, NA10860, NA18500, NA21581, NA19096, NA18854, NA21455, NA21312, NA21389, NA21490, NA18852, NA19224, NA18488, NA18511, NA07000, NA18522, NA07034, NA18622, NA18562, NA12776, NA18965
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515167
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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