A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211854



Internal ID22359278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26310062..26311593hg38UCSC Ensembl
Outerchr8:26167578..26169109hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38665
hg19665
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279756, nssv14279752, nssv14279754, nssv14279757, nssv14279753, nssv14279755
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesPPP2R2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211854
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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