A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588073



Internal ID16375482
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 StatusM
Merged Variantsdgv7946n54
Supporting Variantsnssv949508
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)nsv588073
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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