A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243799



Internal ID21691308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46379930..46379930hg38UCSC Ensembl
chr3:46421421..46421421hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5719998
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)nssv17243799
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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