A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725069



Internal ID21751390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112213894..112213894hg38UCSC Ensembl
chr11:112084617..112084617hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg381566
hg191566
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239339, nssv17236369
Samples
Known GenesBCO2
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)nsv5725069
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