A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437998



Internal ID216571
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 StatusM
Merged Variants
Supporting Variantsnssv16936610
Samples
Known GenesPDIA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437998
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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