A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729757



Internal ID21756078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150614020..150614020hg38UCSC Ensembl
chr3:150331807..150331807hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg384537
hg194537
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236419, nssv17245513
Samples
Known GenesSELT
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)nsv5729757
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