A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700120



Internal ID15436772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23003729..23028617hg38UCSC Ensembl
Innerchr8:22861242..22886130hg19UCSC Ensembl
Innerchr8:22917187..22942075hg18UCSC Ensembl
Innerchr8:22917187..22942075hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3824889
hg1924889
hg1824889
hg1724889
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524231
Supporting Variants
Samples
Known GenesRHOBTB2, TNFRSF10B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700120
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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