A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539111



Internal ID314100
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 StatusM
Merged Variants
Supporting Variantsnssv17691310
Samples
Known GenesATXN8OS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539111
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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