A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729594



Internal ID153260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46822524..46830093hg38UCSC Ensembl
chr22:47218421..47225990hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg387570
hg197570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552351
Supporting Variants
Samples
Known GenesTBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729594
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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