A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061861



Internal ID18804392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23335983..23525045hg38UCSC Ensembl
Innerchr16:23347304..23536366hg19UCSC Ensembl
Innerchr16:23254805..23443867hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38189063
hg19189063
hg18189063
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2826n100
Supporting Variantsnssv3549121
Samples
Known GenesCOG7, EARS2, GGA2, SCNN1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061861
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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