A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583597



Internal ID16371006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168218462..168286525hg38UCSC Ensembl
Innerchr2:169074972..169143035hg19UCSC Ensembl
Innerchr2:168783218..168851281hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3868064
hg1968064
hg1868064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151328
SamplesHGDP00520
Known GenesSTK39
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583597
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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