A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596857



Internal ID16037580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1411297..1468172hg38UCSC Ensembl
Innerchr5:1411412..1468287hg19UCSC Ensembl
Innerchr5:1464412..1521287hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3856876
hg1956876
hg1856876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9536n54
Supporting Variantsnssv1022147
Samples
Known GenesLPCAT1, SLC6A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596857
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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