A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600399



Internal ID16387808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178380622..178403768hg38UCSC Ensembl
Innerchr5:177807623..177830769hg19UCSC Ensembl
Innerchr5:177740229..177763375hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3823147
hg1923147
hg1823147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045766
Samples
Known GenesCOL23A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600399
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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