A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598642



Internal ID16039365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:73178072..73395561hg38UCSC Ensembl
Innerchr5:72473899..72691388hg19UCSC Ensembl
Innerchr5:72509655..72727144hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38217490
hg19217490
hg18217490
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035081
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598642
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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