A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247686



Internal ID21695195
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 StatusS
Merged Variantsnsv5714931
Supporting Variants
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)nssv17247686
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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