A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514926



Internal ID15813285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:44355485..44357093hg38UCSC Ensembl
Innerchr1:44821157..44822765hg19UCSC Ensembl
Innerchr1:44593744..44595352hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381609
hg191609
hg181609
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2865859, nssv2859273, nssv2868427, nssv2859525, nssv2860615, nssv2859409, nssv2865298, nssv2858684, nssv2866918, nssv2865911, nssv2861134, nssv2862987, nssv2864678, nssv2863403, nssv2863318, nssv2864152, nssv2858640, nssv2863931, nssv2867877, nssv2867098, nssv2867647, nssv2864833, nssv2862471, nssv2860944, nssv2865925, nssv2867196, nssv2866363, nssv2866306, nssv2865167, nssv2862467, nssv2862242, nssv2868409, nssv2858841, nssv2865481, nssv2858624, nssv2858853, nssv2867352, nssv2865562, nssv2860817, nssv2862544, nssv2865164, nssv2868181, nssv2863263, nssv2867909, nssv2864848, nssv2863675, nssv2863975, nssv2861634, nssv2865567, nssv2864185, nssv2866774, nssv2858997, nssv2866939, nssv2859642, nssv2868003, nssv2860044, nssv2867008, nssv2859006, nssv2867790, nssv2866223, nssv2866894, nssv2865331, nssv2864653, nssv2859424, nssv2860001, nssv2865225, nssv2858940, nssv2867254, nssv2866139, nssv2863891, nssv2860181, nssv2864371, nssv2863961, nssv2867972, nssv2860183, nssv2867274, nssv2863483, nssv2864081, nssv2860818, nssv2861578, nssv2863723, nssv2859206, nssv2860013, nssv2858536, nssv2866323, nssv2867212, nssv2862174, nssv2867910, nssv2866429, nssv2861033, nssv2859772, nssv2861261, nssv2867865, nssv2863020, nssv2865048, nssv2862131, nssv2860503, nssv2861513, nssv2860721, nssv2861647, nssv2859151, nssv2858895, nssv2867727, nssv2866187, nssv2865157, nssv2868311, nssv2864789, nssv2866348, nssv2864416, nssv2863703, nssv2861733, nssv2863461, nssv2859910, nssv2862767, nssv2864237, nssv2860174, nssv2862334, nssv2859800, nssv2866293, nssv2863695, nssv2863442, nssv2863212, nssv2867900, nssv2864883, nssv2864034, nssv2859299, nssv2867762, nssv2868251, nssv2866300, nssv2862261, nssv2867696, nssv2863819, nssv2861143, nssv2858734, nssv2866506, nssv2858827, nssv2868119, nssv2867428, nssv2862721, nssv2862940, nssv2860599, nssv2863443, nssv2864079, nssv2865491, nssv2859699, nssv2862778, nssv2865042, nssv2858780, nssv2859905, nssv2863243, nssv2864561, nssv2862867, nssv2866033, nssv2866075, nssv2866734, nssv2867735, nssv2866369, nssv2866114, nssv2859754, nssv2860331, nssv2864643, nssv2860640, nssv2868029, nssv2864989, nssv2863743, nssv2860485, nssv2860352, nssv2862339, nssv2867538, nssv2861825, nssv2861468, nssv2859615, nssv2866718, nssv2868295, nssv2860184, nssv2863642, nssv2864618, nssv2867943, nssv2863386, nssv2867109, nssv2866243, nssv2864215, nssv2863974, nssv2859711, nssv2864314, nssv2861382, nssv2861917, nssv2867335, nssv2862450, nssv2858875, nssv2859195, nssv2867291, nssv2862067, nssv2863117, nssv2862099, nssv2858608, nssv2864809, nssv2867637, nssv2864701, nssv2866917, nssv2863718, nssv2865770, nssv2859324, nssv2859032, nssv2862902, nssv2866388, nssv2862260, nssv2862177, nssv2861418, nssv2860381, nssv2859495, nssv2865232, nssv2859721, nssv2865994, nssv2865466, nssv2860932, nssv2859899, nssv2865785, nssv2861076, nssv2868360, nssv2862152, nssv2863099, nssv2859508, nssv2862926, nssv2861814, nssv2859317, nssv2868378, nssv2858687, nssv2862482, nssv2865826, nssv2866564, nssv2858920, nssv2867495, nssv2859963, nssv2866277, nssv2867223, nssv2867180, nssv2865917, nssv2863834, nssv2859397, nssv2867818, nssv2867455, nssv2862462, nssv2860019, nssv2863083, nssv2863300, nssv2861206, nssv2861411, nssv2862313, nssv2860169, nssv2864213, nssv2867354, nssv2859720, nssv2867368, nssv2864677, nssv2865832, nssv2862243, nssv2862416, nssv2866263, nssv2868120, nssv2862203, nssv2868267, nssv2868118, nssv2867051, nssv2863078, nssv2860018, nssv2862591, nssv2865242, nssv2859988, nssv2858967, nssv2867181, nssv2865301, nssv2862928, nssv2862429, nssv2863749, nssv2861609, nssv2866907, nssv2859167, nssv2858535, nssv2860190, nssv2862158, nssv2860285, nssv2864597, nssv2868199, nssv2867372, nssv2865715, nssv2863614, nssv2861749, nssv2864566, nssv2860386, nssv2865978, nssv2860933, nssv2864053, nssv2860734, nssv2861690, nssv2859323, nssv2858523, nssv2861017, nssv2866143, nssv2859836, nssv2867950, nssv2859751, nssv2859931, nssv2864499, nssv2865820, nssv2863068, nssv2860669, nssv2863156, nssv2863641, nssv2861684, nssv2865145, nssv2862165, nssv2865786, nssv2860548, nssv2865647, nssv2867205, nssv2867579, nssv2867461, nssv2867743, nssv2867163, nssv2864100, nssv2865988, nssv2868418, nssv2867140, nssv2866777, nssv2861226, nssv2868124, nssv2860870, nssv2862430, nssv2862346, nssv2867417, nssv2858861, nssv2861689, nssv2859462, nssv2860457, nssv2867866, nssv2859377, nssv2868491, nssv2868133, nssv2861307, nssv2867785, nssv2861232, nssv2865114, nssv2867172, nssv2863531, nssv2866597, nssv2867135, nssv2863109, nssv2861946, nssv2863270, nssv2858741, nssv2866494, nssv2858873, nssv2858919, nssv2867311, nssv2859746, nssv2865991, nssv2860807, nssv2863708, nssv2862231, nssv2859309, nssv2862958, nssv2864642, nssv2859005, nssv2864871, nssv2865800, nssv2866933, nssv2860714, nssv2860303, nssv2865740, nssv2864537, nssv2864480, nssv2858710, nssv2866186, nssv2864668, nssv2865258, nssv2863967, nssv2868038, nssv2861707, nssv2862095, nssv2864101, nssv2862424, nssv2859020, nssv2861089, nssv2859128, nssv2864660, nssv2858754, nssv2861529, nssv2868048, nssv2866511, nssv2865433, nssv2859292, nssv2861856, nssv2865269, nssv2865128, nssv2864665, nssv2858929, nssv2867560, nssv2867151, nssv2862699, nssv2860444, nssv2867674, nssv2858762, nssv2865971, nssv2858842, nssv2865631, nssv2862255, nssv2864453, nssv2858836, nssv2866863, nssv2860919, nssv2858882, nssv2864670, nssv2865064, nssv2865945, nssv2858668, nssv2867640, nssv2865689, nssv2868480, nssv2868404, nssv2865458, nssv2858603, nssv2867799, nssv2858600, nssv2863236, nssv2867056, nssv2865336, nssv2866925, nssv2859500, nssv2865444, nssv2863501, nssv2861590, nssv2860176, nssv2860786, nssv2859387, nssv2864943, nssv2863730, nssv2863223, nssv2867239, nssv2859054, nssv2860970, nssv2860189, nssv2867497, nssv2861393, nssv2867483, nssv2862657, nssv2862361, nssv2862658, nssv2861974, nssv2866749, nssv2858939, nssv2864436, nssv2861783, nssv2861700, nssv2867508, nssv2866213, nssv2863079, nssv2861478, nssv2858808, nssv2866309, nssv2864325, nssv2863332, nssv2859053, nssv2866672, nssv2862578, nssv2863082, nssv2864232, nssv2862847, nssv2863890, nssv2862794, nssv2862622, nssv2862449, nssv2866475, nssv2866889, nssv2858698, nssv2860745, nssv2860397, nssv2867919, nssv2859330, nssv2867602, nssv2858865, nssv2862121, nssv2858678, nssv2862218, nssv2867769, nssv2864132, nssv2862033, nssv2863491
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 Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514926
Frequency
Sample Size2366
Observed Gain488
Observed Loss0
Observed Complex0
Frequencyn/a


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