A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933527



Internal ID23090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54604443..54608522hg38UCSC Ensembl
chr3:54638470..54642549hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg384080
hg194080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441826
Supporting Variants
Samples
Known GenesCACNA2D3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933527
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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