A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220620



Internal ID22365272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46788406..46789313hg38UCSC Ensembl
chr20:45417045..45417952hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38908
hg19908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299391, nssv14299389, nssv14299390, nssv14299388, nssv14299387, nssv14299386, nssv14299392
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220620
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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