A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721786



Internal ID21748107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:34800352..34800352hg38UCSC Ensembl
chr22:35196343..35196343hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg385587
hg195587
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237888
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)nsv5721786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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