A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17691310



Internal ID114976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70139426..70139433hg38UCSC Ensembl
chr13:70713558..70713565hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539111
Supporting Variants
Samples
Known GenesATXN8OS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17691310
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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