A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114460



Internal ID21297726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69736734..69740347hg38UCSC Ensembl
Innerchr12:70130514..70134127hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383614
hg193614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14092831
Samplessample139
Known GenesRAB3IP
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114460
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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