A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696095



Internal ID15086061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22296620..22520605hg38UCSC Ensembl
Innerchr8:22154133..22378118hg19UCSC Ensembl
Innerchr8:22210078..22434063hg18UCSC Ensembl
Innerchr8:22210078..22434063hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38223986
hg19223986
hg18223986
hg17223986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518646
Supporting Variants
Samples
Known GenesPIWIL2, PPP3CC, SLC39A14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696095
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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