A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600299



Internal ID16387708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:173481860..173529804hg38UCSC Ensembl
Innerchr5:172908863..172956807hg19UCSC Ensembl
Innerchr5:172841469..172889413hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3847945
hg1947945
hg1847945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045490
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600299
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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