A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688316



Internal ID15424968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2187566..2204315hg38UCSC Ensembl
Innerchr8:2135762..2151954hg19UCSC Ensembl
Innerchr8:2123169..2139361hg18UCSC Ensembl
Innerchr8:2123169..2139361hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3816750
hg1916193
hg1816193
hg1716193
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515930
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688316
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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