A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16939966



Internal ID27365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132611514..132613991hg38UCSC Ensembl
chr3:132330358..132332835hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382478
hg192478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449333
Supporting Variants
Samples
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16939966
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005151


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