A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17240959



Internal ID21688468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32414427..32414427hg38UCSC Ensembl
chr19:32905333..32905333hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719182
Supporting Variants
Samples
Known GenesDPY19L3
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)nssv17240959
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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