A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16938986



Internal ID26707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146201972..146204331hg38UCSC Ensembl
chr3:145919759..145922118hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg382360
hg192360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435093
Supporting Variants
Samples
Known GenesPLSCR4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16938986
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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