A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540843



Internal ID315540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37881289..37882631hg38UCSC Ensembl
chr22:38277296..38278638hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381343
hg191343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728888
Samples
Known GenesEIF3L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540843
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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