A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716012



Internal ID21742333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:110919496..110919496hg38UCSC Ensembl
chr11:110790220..110790220hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242934, nssv17239293
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)nsv5716012
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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