A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718890



Internal ID21745211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:45263252..45263252hg38UCSC Ensembl
chr15:45555450..45555450hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246348, nssv17234816
Samples
Known GenesSLC28A2
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)nsv5718890
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