A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv949508



Internal ID16243464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16551808..16783675hg38UCSC Ensembl
Innerchr22:17032698..17264565hg19UCSC Ensembl
Innerchr22:15412698..15644565hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38231868
hg19231868
hg18231868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588073
Supporting Variants
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv949508
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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