A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588986



Internal ID16376395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37133758..37145791hg38UCSC Ensembl
Innerchr22:37529798..37541831hg19UCSC Ensembl
Innerchr22:35859744..35871777hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3812034
hg1912034
hg1812034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv956660
Samples
Known GenesIL2RB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588986
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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