A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16936610



Internal ID25127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123135698..123138115hg38UCSC Ensembl
chr3:122854545..122856962hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg382418
hg192418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437998
Supporting Variants
Samples
Known GenesPDIA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16936610
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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