A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726907



Internal ID21753228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115541911..115541911hg38UCSC Ensembl
chr1:116084532..116084532hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239805, nssv17248380
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)nsv5726907
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