A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600246



Internal ID16387655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:165963448..166120847hg38UCSC Ensembl
Innerchr5:165390453..165547852hg19UCSC Ensembl
Innerchr5:165323031..165480430hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38157400
hg19157400
hg18157400
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045249
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600246
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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