A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16950580



Internal ID34408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69198308..69519168hg38UCSC Ensembl
chr4:70064026..70384886hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38320861
hg19320861
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559697
Supporting Variants
Samples
Known GenesUGT2B11, UGT2B28, UGT2B4
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16950580
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000937


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