A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6480609



Internal ID21138162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70033567..70135972hg38UCSC Ensembl
chr13:70607699..70710104hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38102406
hg19102406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18012518
Samples
Known GenesATXN8OS, KLHL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6480609
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