A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112499



Internal ID21295765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46514689..46519980hg38UCSC Ensembl
Innerchr13:47088824..47094115hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg385292
hg195292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv291n145
Supporting Variantsnssv14094539
Samplessample118
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112499
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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