A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715043



Internal ID21741364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66024421..66024421hg38UCSC Ensembl
chr8:66936656..66936656hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg381108
hg191108
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251110, nssv17236425
Samples
Known GenesDNAJC5B
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)nsv5715043
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