A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010006



Internal ID19099225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:89896137..90282526hg38UCSC Ensembl
Innerchr2:89934947..90321385hg19UCSC Ensembl
Innerchr2:89571989..89958690hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38386390
hg19386439
hg18386702
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3977n100
Supporting Variantsnssv3580373, nssv3580403, nssv3580379, nssv3580369, nssv3580362, nssv3580411, nssv3580363, nssv3731265, nssv3580389, nssv3731258, nssv3580380, nssv3580382, nssv3580384, nssv3580355, nssv3731259, nssv3580404, nssv3580395, nssv3580394, nssv3580387, nssv3580383, nssv3580357, nssv3580351, nssv3580390, nssv3580375, nssv3580368, nssv3580406, nssv3580376, nssv3580386, nssv3731267, nssv3731266, nssv3580350, nssv3731256, nssv3731257, nssv3580398, nssv3731268, nssv3731262, nssv3580353, nssv3580371, nssv3580388, nssv3580381, nssv3731263, nssv3580378, nssv3580392, nssv3580393, nssv3731260, nssv3580397, nssv3731261, nssv3580408, nssv3580407, nssv3580367, nssv3580360, nssv3580372, nssv3580349, nssv3580410, nssv3580358, nssv3580409, nssv3580400, nssv3580354, nssv3580356, nssv3580352, nssv3580405, nssv3580377, nssv3580365, nssv3580401, nssv3580361, nssv3731264, nssv3580396, nssv3580385, nssv3580370, nssv3580399, nssv3580366, nssv3580374, nssv3580391, nssv3580402, nssv3580359, nssv3580364
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010006
Frequency
Sample Size11257
Observed Gain10
Observed Loss66
Observed Complex0
Frequencyn/a


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