A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228387



Internal ID22370586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1963112..1989684hg38UCSC Ensembl
Outerchr8:1911278..1937850hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279143, nssv14279142, nssv14279140, nssv14279141
SamplesNA19238, HG00731, HG00732, HG00513
Known GenesKBTBD11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228387
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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