A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599192



Internal ID16039915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:102708326..102819738hg38UCSC Ensembl
Innerchr5:102044030..102155442hg19UCSC Ensembl
Innerchr5:102071929..102183341hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38111413
hg19111413
hg18111413
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039631
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599192
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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