A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687561



Internal ID15077527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33533389..33547458hg38UCSC Ensembl
Innerchr2:33758456..33772525hg19UCSC Ensembl
Innerchr2:33611960..33626029hg18UCSC Ensembl
Innerchr2:33670107..33684176hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3814070
hg1914070
hg1814070
hg1714070
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516338
Supporting Variants
Samples
Known GenesRASGRP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687561
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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