A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583595



Internal ID16371004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167695853..167771667hg38UCSC Ensembl
Innerchr2:168552363..168628177hg19UCSC Ensembl
Innerchr2:168260609..168336423hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3875815
hg1975815
hg1875815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151327
Samples1782681087_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583595
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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