A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599179



Internal ID16386588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:101274219..101490620hg38UCSC Ensembl
Innerchr5:100609923..100826324hg19UCSC Ensembl
Innerchr5:100637822..100854223hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38216402
hg19216402
hg18216402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039620
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599179
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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