A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729017



Internal ID21755338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62068226..62068226hg38UCSC Ensembl
chr20:60643282..60643282hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239492, nssv17250539
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5729017
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