A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220452



Internal ID22365142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43652857..43653476hg38UCSC Ensembl
chr20:42281497..42282116hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5274n152
Supporting Variantsnssv14301448, nssv14301453, nssv14301451, nssv14301449, nssv14301452, nssv14301450
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220452
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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