A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514842



Internal ID15813201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41228414..41238406hg38UCSC Ensembl
Innerchr17:39384666..39394658hg19UCSC Ensembl
Innerchr17:36638192..36648184hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg389993
hg199993
hg189993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2830818, nssv2830815, nssv2830790, nssv2830880, nssv2830866, nssv2830797, nssv2830803, nssv2830874, nssv2830793, nssv2830783, nssv2830852, nssv2830864, nssv2830813, nssv2830792, nssv2830804, nssv2830878, nssv2830883, nssv2830867, nssv2830858, nssv2830795, nssv2830842, nssv2830865, nssv2830791, nssv2830822, nssv2830839, nssv2830831, nssv2830835, nssv2830789, nssv2830859, nssv2830843, nssv2830853, nssv2830779, nssv2830821, nssv2830814, nssv2830841, nssv2830805, nssv2830869, nssv2830784, nssv2830863, nssv2830856, nssv2830828, nssv2830846, nssv2830787, nssv2830871, nssv2830876, nssv2830832, nssv2830882, nssv2830826, nssv2830794, nssv2830777, nssv2830808, nssv2830824, nssv2830862, nssv2830807, nssv2830830, nssv2830825, nssv2830857, nssv2830786, nssv2830776, nssv2830861, nssv2830823, nssv2830840, nssv2830802, nssv2830879, nssv2830775, nssv2830838, nssv2830844, nssv2830796, nssv2830854, nssv2830812, nssv2830850, nssv2830848, nssv2830870, nssv2830785, nssv2830829, nssv2830778, nssv2830833, nssv2830801, nssv2830811, nssv2830873, nssv2830809, nssv2830875, nssv2830868, nssv2830845, nssv2830836, nssv2830798, nssv2830837, nssv2830788, nssv2830847, nssv2830799, nssv2830877, nssv2830780, nssv2830881, nssv2830851, nssv2830782, nssv2830819, nssv2830810, nssv2830781, nssv2830860, nssv2830827, nssv2830817, nssv2830806, nssv2830849, nssv2830834, nssv2830820, nssv2830800, nssv2830816, nssv2830872, nssv2830855
SamplesNA19141, NA21636, NA21686, NA19186, NA19249, NA18862, NA18508, NA18855, NA18507, NA21310, NA19145, NA19092, NA21386, NA18504, NA21301, NA21360, NA21635, NA18510, NA19127, NA19171, NA19201, NA18489, NA19191, NA19198, NA21493, NA18498, NA21365, NA21391, NA18874, NA18868, NA21512, NA19137, NA21525, NA21453, NA19172, NA19128, NA21478, NA19189, NA21523, NA21442, NA21400, NA18867, NA21494, NA21480, NA21307, NA19210, NA19120, NA19175, NA19152, NA19184, NA18910, NA19103, NA18503, NA19179, NA11919, NA19177, NA19142, NA19118, NA18875, NA18499, NA10830, NA18856, NA18857, NA18853, NA19099, NA19101, NA19252, NA18523, NA21316, NA21302, NA21608, NA19094, NA19206, NA19108, NA19256, NA19147, NA18517, NA18863, NA19100, NA19144, NA21615, NA21361, NA21513, NA19117, NA19109, NA19248, NA19173, NA18509, NA19185, NA18506, NA21581, NA19102, NA21614, NA21486, NA19096, NA18854, NA21455, NA19116, NA21303, NA18852, NA21363, NA19129, NA19146, NA21487, NA18511, NA21514, NA21440, NA12154, NA19153
Known GenesKRTAP9-3, KRTAP9-8
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514842
Frequency
Sample Size2366
Observed Gain0
Observed Loss109
Observed Complex0
Frequencyn/a


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