A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725436



Internal ID21751757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:118692115..118692115hg38UCSC Ensembl
chr9:121454393..121454393hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg383341
hg193341
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236237
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)nsv5725436
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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