A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724917



Internal ID21751238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:117517291..117517291hg38UCSC Ensembl
chr3:117236138..117236138hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246329, nssv17244204
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)nsv5724917
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