A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16936612



Internal ID25128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123153124..123155017hg38UCSC Ensembl
chr3:122871971..122873864hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381894
hg191894
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443164
Supporting Variants
Samples
Known GenesPDIA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16936612
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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