A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728046



Internal ID21754367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:106034338..106034338hg38UCSC Ensembl
chr9:108796619..108796619hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38404
hg19404
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251637
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)nsv5728046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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