A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv706047



Internal ID15096013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17979580..18314502hg38UCSC Ensembl
Innerchr8:17837089..18172011hg19UCSC Ensembl
Innerchr8:17881369..18216291hg18UCSC Ensembl
Innerchr8:17881369..18216291hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38334923
hg19334923
hg18334923
hg17334923
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522647
Supporting Variants
Samples
Known GenesASAH1, NAT1, PCM1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv706047
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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