A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707478



Internal ID131144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67095383..67096811hg38UCSC Ensembl
chr16:67129286..67130714hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381429
hg191429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519824
Supporting Variants
Samples
Known GenesCBFB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707478
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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