A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16932703



Internal ID22525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48381316..48382324hg38UCSC Ensembl
chr3:48422806..48423814hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452640
Supporting Variants
Samples
Known GenesFBXW12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16932703
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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