A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721992



Internal ID21748313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137813131..137813131hg38UCSC Ensembl
chr5:137148820..137148820hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239733
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)nsv5721992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer