A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703919



Internal ID21730240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:60688960..60688960hg38UCSC Ensembl
chr20:59264018..59264018hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202645, nssv17221534
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5703919
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