A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521478



Internal ID15448771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17086809..17094910hg38UCSC Ensembl
Innerchr22:17567699..17575800hg19UCSC Ensembl
Innerchr22:15947699..15955800hg18UCSC Ensembl
Innerchr22:15942253..15950354hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg388102
hg198102
hg188102
hg178102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698090
Samples
Known GenesIL17RA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521478
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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