A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598298



Internal ID16039021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60673188..60820786hg38UCSC Ensembl
Innerchr5:59969015..60116613hg19UCSC Ensembl
Innerchr5:60004772..60152370hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38147599
hg19147599
hg18147599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1033497
Samples
Known GenesDEPDC1B, ELOVL7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598298
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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