A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600400



Internal ID16387809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178384753..178396723hg38UCSC Ensembl
Innerchr5:177811754..177823724hg19UCSC Ensembl
Innerchr5:177744360..177756330hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3811971
hg1911971
hg1811971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045767, nssv1045768
Samples
Known GenesCOL23A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600400
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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