A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705757



Internal ID15442409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2195887..2201809hg38UCSC Ensembl
Innerchr8:2143418..2149448hg19UCSC Ensembl
Innerchr8:2130825..2136855hg18UCSC Ensembl
Innerchr8:2130825..2136855hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg385923
hg196031
hg186031
hg176031
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)nssv705757
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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