A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115494



Internal ID21298760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63417854..63915894hg38UCSC Ensembl
Innerchr12:63811634..64309674hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38498041
hg19498041
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14093864
Samplessample386
Known GenesDPY19L2, SRGAP1, TMEM5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115494
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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