A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721692



Internal ID21748013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:17946089..17946089hg38UCSC Ensembl
chr9:17946087..17946087hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg38737
hg19737
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237492
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)nsv5721692
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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