A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515081



Internal ID15813440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39375684..39528640hg38UCSC Ensembl
Innerchr8:39233203..39386159hg19UCSC Ensembl
Innerchr8:39352360..39505316hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38152957
hg19152957
hg18152957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2961837, nssv2960273, nssv2961067, nssv2961050, nssv2960299, nssv2961904, nssv2960291, nssv2960301, nssv2960255, nssv2961877, nssv2960260, nssv2961911, nssv2961908, nssv2960276, nssv2961886, nssv2960282, nssv2961073, nssv2961903, nssv2961057, nssv2961053, nssv2961835, nssv2961902, nssv2961833, nssv2961897, nssv2961894, nssv2961866, nssv2961836, nssv2961822, nssv2961819, nssv2960300, nssv2961062, nssv2961044, nssv2961930, nssv2961887, nssv2961929, nssv2961831, nssv2961077, nssv2960275, nssv2961052, nssv2960280, nssv2961055, nssv2961924, nssv2961825, nssv2961918, nssv2961827, nssv2961909, nssv2961063, nssv2961862, nssv2961841, nssv2961891, nssv2961915, nssv2961818, nssv2961871, nssv2961832, nssv2961884, nssv2961875, nssv2960297, nssv2960281, nssv2960294, nssv2960264, nssv2961076, nssv2961056, nssv2960269, nssv2961874, nssv2960259, nssv2961920, nssv2961889, nssv2961854, nssv2961916, nssv2961880, nssv2961870, nssv2961881, nssv2961893, nssv2961046, nssv2961895, nssv2961923, nssv2960267, nssv2961816, nssv2961905, nssv2961890, nssv2961839, nssv2961061, nssv2961054, nssv2961892, nssv2961064, nssv2961074, nssv2960271, nssv2961921, nssv2961913, nssv2961828, nssv2960295, nssv2960256, nssv2961888, nssv2961867, nssv2961068, nssv2961855, nssv2961849, nssv2961049, nssv2961830, nssv2961928, nssv2961922, nssv2960277, nssv2961901, nssv2961878, nssv2961059, nssv2960296, nssv2961070, nssv2961075, nssv2960258, nssv2961873, nssv2961820, nssv2961060, nssv2960254, nssv2961900, nssv2960261, nssv2961861, nssv2961842, nssv2961829, nssv2961065, nssv2961912, nssv2961058, nssv2961860, nssv2961846, nssv2960274, nssv2961896, nssv2961885, nssv2961925, nssv2960283, nssv2961826, nssv2961914, nssv2961817, nssv2961858, nssv2961823, nssv2960305, nssv2961927, nssv2961926, nssv2960289, nssv2960284, nssv2960292, nssv2961856, nssv2960279, nssv2960265, nssv2960285, nssv2961838, nssv2960270, nssv2961847, nssv2961821, nssv2960298, nssv2960262, nssv2961906, nssv2961857, nssv2961048, nssv2960278, nssv2961845, nssv2961872, nssv2961066, nssv2961859, nssv2961879, nssv2961047, nssv2961853, nssv2961843, nssv2960272, nssv2961851, nssv2961844, nssv2961868, nssv2961840, nssv2961824, nssv2961069, nssv2960268, nssv2960288, nssv2960286, nssv2961907, nssv2961865, nssv2961899, nssv2961869, nssv2960266, nssv2961917, nssv2960290, nssv2960257, nssv2961864, nssv2961051, nssv2960293, nssv2961910, nssv2961876, nssv2960302, nssv2961919, nssv2961898, nssv2961852, nssv2961072, nssv2961045, nssv2961850, nssv2961848, nssv2961863, nssv2961834, nssv2961882, nssv2961071, nssv2960303, nssv2960287, nssv2960304, nssv2961883, nssv2960263
SamplesNA12383, NA11830, NA21686, NA21477, NA21488, NA21423, NA11829, NA12814, NA10851, NA12273, NA18524, NA12767, NA12414, NA21476, NA18935, NA12843, NA11920, NA12344, NA12045, NA18486, NA21489, NA12004, NA21717, NA18925, NA12801, NA21386, NA12340, NA12248, NA12146, NA12058, NA21475, NA19190, NA18870, NA12400, NA12750, NA12399, NA12155, NA12813, NA18967, NA07346, NA19192, NA10835, NA10846, NA21359, NA21526, NA19191, NA12802, NA18923, NA18860, NA12891, NA18558, NA18547, NA12348, NA18960, NA18942, NA11992, NA07048, NA21401, NA07347, NA12287, NA21493, NA21365, NA06993, NA21391, NA11917, NA12282, NA12275, NA12005, NA21447, NA18970, NA12274, NA12156, NA07014, NA21512, NA21454, NA12044, NA11994, NA21453, NA19207, NA10850, NA12889, NA10855, NA21362, NA12828, NA10839, NA21634, NA18975, NA21400, NA12375, NA21494, NA11831, NA10847, NA21599, NA12777, NA18605, NA12335, NA21313, NA12760, NA12752, NA10836, NA12343, NA10863, NA10831, NA12878, NA12872, NA18933, NA12485, NA19205, NA21439, NA18579, NA12718, NA12376, NA18948, NA11839, NA21438, NA10838, NA21366, NA21485, NA19208, NA21441, NA12818, NA11919, NA07031, NA12386, NA12829, NA11893, NA11840, NA10830, NA12249, NA12056, NA12892, NA12239, NA18853, NA12827, NA12264, NA12145, NA12817, NA10852, NA12766, NA19225, NA12144, NA06985, NA12778, NA10856, NA18570, NA18593, NA12546, NA19012, NA12043, NA06995, NA19206, NA06991, NA12716, NA18952, NA12864, NA12775, NA12272, NA19174, NA21425, NA12873, NA07051, NA21718, NA21615, NA12874, NA21388, NA12763, NA07055, NA12347, NA06986, NA12708, NA19117, NA12740, NA06994, NA18971, NA07435, NA10843, NA07349, NA18987, NA10860, NA12830, NA19185, NA21581, NA12875, NA21614, NA21455, NA19116, NA21384, NA21312, NA18552, NA21389, NA21490, NA21363, NA11892, NA19224, NA18624, NA21514, NA12154, NA10864, NA10837, NA18965, NA18997
Known GenesADAM3A, ADAM5
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515081
Frequency
Sample Size2366
Observed Gain0
Observed Loss201
Observed Complex0
Frequencyn/a


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