A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694076



Internal ID15430728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:47041977..47042379hg38UCSC Ensembl
Innerchr22:47437873..47438275hg19UCSC Ensembl
Innerchr22:45816537..45816939hg18UCSC Ensembl
Innerchr22:45758392..45758794hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38403
hg19403
hg18403
hg17403
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519607
Supporting Variants
Samples
Known GenesTBC1D22A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694076
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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