A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494601



Internal ID21152154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70079282..70219604hg38UCSC Ensembl
chr13:70653414..70793736hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38140323
hg19140323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18012524
Samples
Known GenesATXN8OS, KLHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494601
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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