A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698813



Internal ID15435465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220313007..220327616hg38UCSC Ensembl
Innerchr1:220486349..220500958hg19UCSC Ensembl
Innerchr1:218552972..218567581hg18UCSC Ensembl
Innerchr1:216874744..216889353hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3814610
hg1914610
hg1814610
hg1714610
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523114
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698813
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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