A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562051



Internal ID22389128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54131499..54131499hg38UCSC Ensembl
chr20:52748038..52748038hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14300218, nssv14300216, nssv14300217, nssv14300215
SamplesHG00512, NA19238, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562051
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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