A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520974



Internal ID15448267
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697716
Samples
Known GenesZNF804A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520974
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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