A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451132



Internal ID229318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125297419..125297753hg38UCSC Ensembl
chr3:125016263..125016597hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938777
Samples
Known GenesZNF148
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451132
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