A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700578



Internal ID15437230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:99020616..99705697hg38UCSC Ensembl
Innerchr8:100032844..100717925hg19UCSC Ensembl
Innerchr8:100102020..100787101hg18UCSC Ensembl
Innerchr8:100102020..100787101hg17UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38685082
hg19685082
hg18685082
hg17685082
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524617
Supporting Variants
Samples
Known GenesMIR599, MIR875, VPS13B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700578
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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