A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245968



Internal ID21693477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65486045..65486045hg38UCSC Ensembl
chr3:65471720..65471720hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722534
Supporting Variants
Samples
Known GenesMAGI1
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)nssv17245968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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