A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452632



Internal ID230779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111830543..111850090hg38UCSC Ensembl
chr3:111549390..111568937hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3819548
hg1919548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936353
Samples
Known GenesPHLDB2, PLCXD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452632
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