A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686069



Internal ID15076035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33533389..33555164hg38UCSC Ensembl
Innerchr2:33758456..33780231hg19UCSC Ensembl
Innerchr2:33611960..33633735hg18UCSC Ensembl
Innerchr2:33670107..33691882hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3821776
hg1921776
hg1821776
hg1721776
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)nssv686069
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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