A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596882



Internal ID16384291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1523225..1525983hg38UCSC Ensembl
Innerchr5:1523340..1526098hg19UCSC Ensembl
Innerchr5:1576340..1579098hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382759
hg192759
hg182759
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1022195, nssv1022193, nssv1022194
Samples
Known GenesLPCAT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596882
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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