A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239029



Internal ID21686538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144361761..144361761hg38UCSC Ensembl
chr2:145119328..145119328hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5724873
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)nssv17239029
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