A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551293



Internal ID324766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46918998..46960555hg38UCSC Ensembl
chr22:47314894..47356451hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3841558
hg1941558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729603
Samples
Known GenesTBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551293
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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