A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600397



Internal ID16387806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178292915..178316771hg38UCSC Ensembl
Innerchr5:177719916..177743772hg19UCSC Ensembl
Innerchr5:177652522..177676378hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3823857
hg1923857
hg1823857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045765
Samples
Known GenesCOL23A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600397
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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