A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719237



Internal ID21745558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:11694947..11694947hg38UCSC Ensembl
chr11:11716494..11716494hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg383156
hg193156
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244404, nssv17245821
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)nsv5719237
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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