A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722395



Internal ID21748716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46466178..46466178hg38UCSC Ensembl
chr18:44046141..44046141hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38783
hg19783
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252871
Samples
Known Genes
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)nsv5722395
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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