A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697716



Internal ID15434368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:184877747..185283503hg38UCSC Ensembl
Innerchr2:185742474..186148230hg19UCSC Ensembl
Innerchr2:185450719..185856475hg18UCSC Ensembl
Innerchr2:185567980..185973736hg17UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38405757
hg19405757
hg18405757
hg17405757
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520974
Supporting Variants
Samples
Known GenesZNF804A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697716
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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