A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16938795



Internal ID26589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139368117..139368168hg38UCSC Ensembl
chr3:139086959..139087010hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396607
Supporting Variants
Samples
Known GenesCOPB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16938795
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