A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943038



Internal ID29350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183957695..183957969hg38UCSC Ensembl
chr3:183675483..183675757hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139351
Supporting Variants
Samples
Known GenesABCC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943038
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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