A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16937762



Internal ID25883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133429574..133437574hg38UCSC Ensembl
chr3:133148418..133156418hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437171
Supporting Variants
Samples
Known GenesBFSP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16937762
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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