A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719191



Internal ID21745512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:86411064..86411064hg38UCSC Ensembl
chr11:86122106..86122106hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38705
hg19705
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245682
Samples
Known GenesCCDC81
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)nsv5719191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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