A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715449



Internal ID21741770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4414034..4414034hg38UCSC Ensembl
chr20:4394681..4394681hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244477, nssv17236206
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)nsv5715449
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