A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721518



Internal ID21747839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67088940..67088940hg38UCSC Ensembl
chr16:67122843..67122843hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248039, nssv17239573
Samples
Known GenesCBFB
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)nsv5721518
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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