A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239573



Internal ID21687082
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 StatusS
Merged Variantsnsv5721518
Supporting Variants
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)nssv17239573
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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