A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597380



Internal ID16384789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18838025..18976852hg38UCSC Ensembl
Innerchr5:18838134..18976961hg19UCSC Ensembl
Innerchr5:18873891..19012718hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38138828
hg19138828
hg18138828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9635n54
Supporting Variantsnssv1026414
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597380
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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