A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554358



Internal ID327548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111734163..111734214hg38UCSC Ensembl
chr3:111453010..111453061hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936345
Samples
Known GenesPHLDB2, PLCXD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554358
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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