A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723629



Internal ID21749950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10199774..10199774hg38UCSC Ensembl
chr18:10199771..10199771hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242870
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)nsv5723629
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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