A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239132



Internal ID21686641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55258107..55258107hg38UCSC Ensembl
chr16:55292019..55292019hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381352
hg191352
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721711
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)nssv17239132
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