A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583599



Internal ID16024322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168807717..169046586hg38UCSC Ensembl
Innerchr2:169664227..169903096hg19UCSC Ensembl
Innerchr2:169372473..169611342hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38238870
hg19238870
hg18238870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925275
Samples
Known GenesABCB11, G6PC2, NOSTRIN, SPC25
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583599
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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