A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450407



Internal ID228613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119490648..119492251hg38UCSC Ensembl
chr3:119209495..119211098hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381604
hg191604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939451
Samples
Known GenesPOGLUT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450407
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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