A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223233



Internal ID22367068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:82255607..82325667hg38UCSC Ensembl
Outerchr8:83167842..83237902hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3870061
hg1970061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279100
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223233
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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