A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600423



Internal ID16387832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178433453..178583144hg38UCSC Ensembl
Innerchr5:177860454..178010145hg19UCSC Ensembl
Innerchr5:177793060..177942751hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38149692
hg19149692
hg18149692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154733
SamplesHGDP00945
Known GenesCOL23A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600423
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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