A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16941547



Internal ID28387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179620444..179620444hg38UCSC Ensembl
chr3:179338232..179338232hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548498
Supporting Variants
Samples
Known GenesNDUFB5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16941547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003754


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer