A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716091



Internal ID21742412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134998796..134998796hg38UCSC Ensembl
chr7:134683547..134683547hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246162, nssv17236103
Samples
Known GenesAGBL3
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)nsv5716091
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