A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729412



Internal ID21755733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43820529..43820529hg38UCSC Ensembl
chr20:42449169..42449169hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38882
hg19882
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238888
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)nsv5729412
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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