A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702188



Internal ID15092154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56074178..56083116hg38UCSC Ensembl
Innerchr8:56986737..56995675hg19UCSC Ensembl
Innerchr8:57149291..57158229hg18UCSC Ensembl
Innerchr8:57149291..57158229hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg388939
hg198939
hg188939
hg178939
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525972
Supporting Variants
Samples
Known GenesRPS20
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702188
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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