A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596879



Internal ID16037602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1518964..1624236hg38UCSC Ensembl
Innerchr5:1519079..1624351hg19UCSC Ensembl
Innerchr5:1572079..1677351hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38105273
hg19105273
hg18105273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1022175
Samples
Known GenesLOC728613, LPCAT1, SDHAP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596879
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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