A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113344



Internal ID21296610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29371809..29388429hg38UCSC Ensembl
Innerchr13:29945946..29962566hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3816621
hg1916621
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv279n145
Supporting Variantsnssv14094517
Samplessample110
Known GenesMTUS2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113344
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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