A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691773



Internal ID15081739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21938623..22219245hg38UCSC Ensembl
Innerchr22:22292995..22573637hg19UCSC Ensembl
Innerchr22:20622995..20903637hg18UCSC Ensembl
Innerchr22:20617549..20898191hg17UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38280623
hg19280643
hg18280643
hg17280643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516394
Supporting Variants
Samples
Known GenesPPM1F, TOP3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691773
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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