A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728409



Internal ID21754730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185009353..185009353hg38UCSC Ensembl
chr4:185930507..185930507hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242973
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)nsv5728409
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