A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719970



Internal ID21746291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9485014..9485014hg38UCSC Ensembl
chr20:9465661..9465661hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244080, nssv17240120
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5719970
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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