A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238020



Internal ID22374034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35620793..35660678hg38UCSC Ensembl
Outerchr22:36016840..36056725hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38820
hg19820
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268591, nssv14268592, nssv14268594, nssv14268595, nssv14268593, nssv14268590
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesAPOL6, MB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238020
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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