A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117249



Internal ID21300515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44834791..44852396hg38UCSC Ensembl
Innerchr13:45408927..45426532hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3817606
hg1917606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv289n145
Supporting Variantsnssv14095887
Samplessample308
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117249
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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