A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445219



Internal ID223576
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 StatusM
Merged Variants
Supporting Variantsnssv16939455
Samples
Known GenesCD80
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445219
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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