A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714931



Internal ID21741252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119434443..119434443hg38UCSC Ensembl
chr3:119153290..119153290hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247686
Samples
Known GenesTMEM39A
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)nsv5714931
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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