A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543834



Internal ID318053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49779942..49780598hg38UCSC Ensembl
chr22:50173590..50174246hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38657
hg19657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729873
Samples
Known GenesBRD1, LOC90834
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543834
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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