A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588601



Internal ID16029324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23290478..23637032hg38UCSC Ensembl
Innerchr22:23632665..23979219hg19UCSC Ensembl
Innerchr22:21962665..22309219hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38346555
hg19346555
hg18346555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv952620
Samples
Known GenesBCR, C22orf43, CES5AP1, IGLL1, ZDHHC8P1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588601
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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