A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234465



Internal ID22373039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42879457..42888297hg38UCSC Ensembl
Outerchr8:42734600..42743440hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280533, nssv14280534, nssv14280535, nssv14280536
SamplesHG00512, NA19239, HG00731, HG00732
Known GenesRNF170
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234465
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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