A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992110



Internal ID21901453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168385498..168385792hg38UCSC Ensembl
chr3:168103286..168103580hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17555489
Samples
Known GenesEGFEM1P
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992110
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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