A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444598



Internal ID222969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121622188..121654524hg38UCSC Ensembl
chr3:121341035..121373371hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3832337
hg1932337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938099
Samples
Known GenesFBXO40, HCLS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444598
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