A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696576



Internal ID15086542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19743069..19748331hg38UCSC Ensembl
Innerchr22:19730592..19735854hg19UCSC Ensembl
Innerchr22:18110592..18115854hg18UCSC Ensembl
Innerchr22:18105146..18110408hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385263
hg195263
hg185263
hg175263
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517478
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696576
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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