A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599147



Internal ID16386556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:99798856..99996992hg38UCSC Ensembl
Innerchr5:99134560..99332696hg19UCSC Ensembl
Innerchr5:99162459..99360595hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38198137
hg19198137
hg18198137
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039590
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599147
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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