A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17709123



Internal ID132789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67030484..67035021hg38UCSC Ensembl
chr16:67064387..67068924hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384538
hg194538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523072
Supporting Variants
Samples
Known GenesCBFB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17709123
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer