A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299901



Internal ID22134467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:34528016..34528339hg38UCSC Ensembl
chr20:33115821..33116144hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522310
Supporting Variants
SamplesHG00513
Known GenesDYNLRB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299901
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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