A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729028



Internal ID21755349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2537680..2537680hg38UCSC Ensembl
chr20:2518326..2518326hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236772, nssv17252411
Samples
Known GenesTMC2
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)nsv5729028
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