A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229090



Internal ID22371050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49325637..49325719hg38UCSC Ensembl
chr20:47942174..47942256hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14299443, nssv14299442, nssv14299444
SamplesNA19238, HG00732, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229090
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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