A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551076



Internal ID324562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50236092..50238544hg38UCSC Ensembl
chr22:50674521..50676973hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382453
hg192453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729926
Samples
Known GenesTUBGCP6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551076
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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