A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062501



Internal ID19151720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32135553..33970586hg38UCSC Ensembl
Innerchr16:32146874..33773053hg19UCSC Ensembl
Innerchr16:32054375..33680554hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381835034
hg191626180
hg181626180
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2844n100
Supporting Variantsnssv3716288, nssv3716284, nssv3550312, nssv3550326, nssv3550322, nssv3550310, nssv3550311, nssv3550323, nssv3716281, nssv3716280, nssv3716279, nssv3716278, nssv3550318, nssv3550314, nssv3550320, nssv3550315, nssv3716286, nssv3550317, nssv3716287, nssv3716285, nssv3550319, nssv3550313, nssv3550321, nssv3550325, nssv3716289, nssv3716283, nssv3550324, nssv3550316, nssv3716282
Samples
Known GenesHERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062501
Frequency
Sample Size11257
Observed Gain28
Observed Loss1
Observed Complex0
Frequencyn/a


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