A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111647



Internal ID21294913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117127133..117129555hg38UCSC Ensembl
Innerchr12:117564938..117567360hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382423
hg192423
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14091191
Samplessample170
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111647
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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