A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520973



Internal ID22390385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57218709..57219025hg38UCSC Ensembl
chr16:57252621..57252937hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3232n152
Supporting Variantsnssv14386883, nssv14389847, nssv14388468
SamplesHG00512, HG00513, HG00514
Known GenesRSPRY1
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)nsv3520973
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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