A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718901



Internal ID21745222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141242377..141242377hg38UCSC Ensembl
chr7:140942177..140942177hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381919
hg191919
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252293, nssv17237394
Samples
Known GenesTMEM178B
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)nsv5718901
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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