A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460980



Internal ID238944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112276849..112287656hg38UCSC Ensembl
chr5:111612546..111623353hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3810808
hg1910808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971935
Samples
Known GenesEPB41L4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460980
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