A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5544193



Internal ID318366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38997239..39050425hg38UCSC Ensembl
chr22:39393244..39446430hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3853187
hg1953187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728975
Samples
Known GenesAPOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5544193
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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