A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599486



Internal ID16386895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117272283..117334011hg38UCSC Ensembl
Innerchr5:116607979..116669707hg19UCSC Ensembl
Innerchr5:116635878..116697606hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3861729
hg1961729
hg1861729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040572
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599486
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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