A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296896



Internal ID22322285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17184976..17184976hg38UCSC Ensembl
chr20:17165621..17165621hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV alu insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562032
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296896
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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