A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729446



Internal ID21755767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:82653650..82653650hg38UCSC Ensembl
chr11:82364692..82364692hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245678, nssv17251151
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)nsv5729446
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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