A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719777



Internal ID21746098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:61675157..61675157hg38UCSC Ensembl
chr12:62068938..62068938hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg382069
hg192069
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243117, nssv17233834
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)nsv5719777
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