A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449333



Internal ID227573
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 StatusM
Merged Variants
Supporting Variantsnssv16939966
Samples
Known GenesACAD11, NPHP3-ACAD11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449333
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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