A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521462



Internal ID15448755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:29158371..29170139hg38UCSC Ensembl
Innerchr21:30530692..30542460hg19UCSC Ensembl
Innerchr21:29452563..29464331hg18UCSC Ensembl
Innerchr21:29452563..29464331hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3811769
hg1911769
hg1811769
hg1711769
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698072
Samples
Known GenesMAP3K7CL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521462
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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