A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588334



Internal ID16029057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960940..22208677hg38UCSC Ensembl
Innerchr22:22315312..22563068hg19UCSC Ensembl
Innerchr22:20645312..20893068hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38247738
hg19247757
hg18247757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7997n54
Supporting Variantsnssv951984, nssv951985, nssv951986
Samples
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588334
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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