A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550179



Internal ID323768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38477478..38480327hg38UCSC Ensembl
chr22:38873483..38876332hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382850
hg192850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728934
Samples
Known GenesKDELR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550179
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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