A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699684



Internal ID15436336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16437596..16775341hg38UCSC Ensembl
Innerchr22:16918335..17256231hg19UCSC Ensembl
Innerchr22:15298335..15636231hg18UCSC Ensembl
Innerchr22:15292889..15630785hg17UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38337746
hg19337897
hg18337897
hg17337897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517059
Supporting Variants
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699684
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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