A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933712



Internal ID23211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45450500..45457459hg38UCSC Ensembl
chr3:45491992..45498951hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386960
hg196960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452210
Supporting Variants
Samples
Known GenesLARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933712
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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