A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943028



Internal ID29343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183916933..183991197hg38UCSC Ensembl
chr3:183634721..183708985hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3874265
hg1974265
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5440004
Supporting Variants
Samples
Known GenesABCC5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943028
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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