A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688174



Internal ID15424826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41011504..41014352hg38UCSC Ensembl
Innerchr2:41238644..41241492hg19UCSC Ensembl
Innerchr2:41092148..41094996hg18UCSC Ensembl
Innerchr2:41150295..41153143hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg382849
hg192849
hg182849
hg172849
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515841
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688174
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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