A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216321



Internal ID22362350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62142376..62145018hg38UCSC Ensembl
chr20:60717432..60720074hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382643
hg192643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299675, nssv14299670, nssv14299669, nssv14299676, nssv14299673, nssv14299671, nssv14299672, nssv14299674, nssv14299668
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPSMA7, SS18L1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216321
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer