A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729745



Internal ID21756066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17853382..17853382hg38UCSC Ensembl
chr4:17855005..17855005hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246781
Samples
Known GenesLCORL
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)nsv5729745
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