A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522310



Internal ID22391731
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5251n152
Supporting Variantsnssv14299904, nssv14299902, nssv14299901, nssv14299905, nssv14299903
SamplesNA19239, HG00732, NA19240, HG00733, HG00513
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)nsv3522310
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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