A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436223



Internal ID214844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43100112..43100198hg38UCSC Ensembl
chr3:43141604..43141690hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931955
Samples
Known GenesPOMGNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436223
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