A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728400



Internal ID21754721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113197682..113197682hg38UCSC Ensembl
chr11:113068404..113068404hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg382572
hg192572
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240987, nssv17239373
Samples
Known GenesNCAM1
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)nsv5728400
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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