A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242870



Internal ID21690379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10199774..10199774hg38UCSC Ensembl
chr18:10199771..10199771hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723629
Supporting Variants
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)nssv17242870
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