A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729087



Internal ID21755408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:57763950..57763950hg38UCSC Ensembl
chr15:58056148..58056148hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241560, nssv17247801
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)nsv5729087
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