A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229666



Internal ID22371444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20265151..20268700hg38UCSC Ensembl
chr8:20122662..20126211hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9096n152
Supporting Variantsnssv14340295, nssv14340293, nssv14340289, nssv14340287, nssv14340292, nssv14340294, nssv14340291, nssv14340288, nssv14340290
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229666
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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