A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939455



Internal ID27016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119545226..119548980hg38UCSC Ensembl
chr3:119264073..119267827hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg383755
hg193755
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445219
Supporting Variants
Samples
Known GenesCD80
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939455
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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