A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16913106



Internal ID9493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53894516..53894624hg38UCSC Ensembl
chr2:54121653..54121761hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443692
Supporting Variants
Samples
Known GenesPSME4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16913106
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.015454


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