A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6084985



Internal ID21994218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70139427..70139427hg38UCSC Ensembl
chr13:70713559..70713559hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381559
hg191559
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17607143
Samples
Known GenesATXN8OS
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6084985
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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