A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721666



Internal ID21747987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120699127..120699127hg38UCSC Ensembl
chr3:120417974..120417974hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240410, nssv17237151
Samples
Known GenesRABL3
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)nsv5721666
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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