A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112478



Internal ID21295744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55718894..55798538hg38UCSC Ensembl
Innerchr14:56185612..56265256hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3879645
hg1979645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14095169
Samplessample380
Known GenesLINC00520, RPL13AP3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112478
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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