A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16929190



Internal ID20166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16267343..16267394hg38UCSC Ensembl
chr3:16308850..16308901hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402622
Supporting Variants
Samples
Known GenesOXNAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16929190
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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