A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688034



Internal ID15078000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22104323..22131002hg38UCSC Ensembl
Innerchr8:21961834..21988515hg19UCSC Ensembl
Innerchr8:22017779..22044460hg18UCSC Ensembl
Innerchr8:22017779..22044460hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3826680
hg1926682
hg1826682
hg1726682
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519698
Supporting Variants
Samples
Known GenesFAM160B2, HR, NUDT18
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688034
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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