A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696046



Internal ID15432698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17092051..17094910hg38UCSC Ensembl
Innerchr22:17572941..17575800hg19UCSC Ensembl
Innerchr22:15952941..15955800hg18UCSC Ensembl
Innerchr22:15947495..15950354hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg382860
hg192860
hg182860
hg172860
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518600
Supporting Variants
Samples
Known GenesIL17RA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696046
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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