A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17018725



Internal ID80127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133552196..133553739hg38UCSC Ensembl
chr8:134564439..134565982hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381544
hg191544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483572
Supporting Variants
Samples
Known GenesST3GAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17018725
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