A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691876



Internal ID15428528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43162920..43302123hg38UCSC Ensembl
Innerchr22:43558926..43698129hg19UCSC Ensembl
Innerchr22:41888870..42028073hg18UCSC Ensembl
Innerchr22:41883424..42022627hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38139204
hg19139204
hg18139204
hg17139204
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520927
Supporting Variants
Samples
Known GenesSCUBE1, TSPO, TTLL12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691876
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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