A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703817



Internal ID15093783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31136974..31137239hg38UCSC Ensembl
Innerchr22:31532960..31533225hg19UCSC Ensembl
Innerchr22:29862960..29863225hg18UCSC Ensembl
Innerchr22:29857514..29857779hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38266
hg19266
hg18266
hg17266
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527382
Supporting Variants
Samples
Known GenesPLA2G3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703817
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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