A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727340



Internal ID21753661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:108056053..108056053hg38UCSC Ensembl
chr9:110818334..110818334hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg385373
hg195373
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236869, nssv17237940
Samples
Known Genes
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)nsv5727340
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