A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598395



Internal ID16385804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:65925255..65926088hg38UCSC Ensembl
Innerchr5:65221083..65221916hg19UCSC Ensembl
Innerchr5:65256839..65257672hg18UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38834
hg19834
hg18834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034592
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598395
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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