A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6110819



Internal ID22020052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63670128..63670128hg38UCSC Ensembl
chr20:62301481..62301481hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17641343
Samples
Known GenesRTEL1, RTEL1-TNFRSF6B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6110819
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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