A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239087



Internal ID21686596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15411902..15411902hg38UCSC Ensembl
chr6:15412133..15412133hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723866
Supporting Variants
Samples
Known GenesJARID2
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)nssv17239087
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