A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596883



Internal ID16384292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1523276..1523844hg38UCSC Ensembl
Innerchr5:1523391..1523959hg19UCSC Ensembl
Innerchr5:1576391..1576959hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38569
hg19569
hg18569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9541n54
Supporting Variantsnssv1022196, nssv1022197
Samples
Known GenesLPCAT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596883
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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