A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116540



Internal ID21299806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46513961..46519980hg38UCSC Ensembl
Innerchr13:47088096..47094115hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg386020
hg196020
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv291n145
Supporting Variantsnssv14095664
Samplessample182
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116540
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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