A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730895



Internal ID21757216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193920427..193920427hg38UCSC Ensembl
chr3:193638216..193638216hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382183
hg192183
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240721
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)nsv5730895
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