A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18012529



Internal ID20579569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70124832..70125424hg38UCSC Ensembl
chr13:70698964..70699556hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38593
hg19593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479927
Supporting Variants
Samples
Known GenesATXN8OS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18012529
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00048


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