A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434148



Internal ID212831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134004131..134004583hg38UCSC Ensembl
chr3:133722975..133723427hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38453
hg19453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937793
Samples
Known GenesSLCO2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434148
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