A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596880



Internal ID16384289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1523225..1523782hg38UCSC Ensembl
Innerchr5:1523340..1523897hg19UCSC Ensembl
Innerchr5:1576340..1576897hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38558
hg19558
hg18558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9541n54
Supporting Variantsnssv1022177, nssv1022178, nssv1022176
Samples
Known GenesLPCAT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596880
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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