A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588984



Internal ID16029707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36967923..37161398hg38UCSC Ensembl
Innerchr22:37363964..37557438hg19UCSC Ensembl
Innerchr22:35693910..35887384hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38193476
hg19193475
hg18193475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151836
SamplesHGDP00627
Known GenesIL2RB, KCTD17, LOC100506241, MPST, TEX33, TMPRSS6, TST
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588984
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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