A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220878



Internal ID22365447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:21043017..21050939hg38UCSC Ensembl
Outerchr8:20900528..20908450hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg382820
hg192820
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279713, nssv14279715, nssv14279714, nssv14279716
SamplesNA19238, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220878
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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