A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896373



Internal ID171733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224150167..224150482hg38UCSC Ensembl
chr1:224337869..224338184hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446857
Supporting Variants
Samples
Known GenesFBXO28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896373
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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