A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297620



Internal ID22261275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:21209593..21209838hg38UCSC Ensembl
chr20:21190231..21190476hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532427
Supporting Variants
SamplesNA19238
Known GenesPLK1S1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297620
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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