A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599370



Internal ID16040093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112083606..112149675hg38UCSC Ensembl
Innerchr5:111419303..111485372hg19UCSC Ensembl
Innerchr5:111447202..111513271hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3866070
hg1966070
hg1866070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040266
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599370
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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