A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240819



Internal ID21688328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41935612..41935612hg38UCSC Ensembl
chr1:42401283..42401283hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727351
Supporting Variants
Samples
Known GenesHIVEP3
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)nssv17240819
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