A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246794



Internal ID22376528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142917258..142960626hg38UCSC Ensembl
Outerchr8:143998674..144042043hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38683
hg19683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281026, nssv14281028, nssv14281027
SamplesHG00731, HG00733, HG00513
Known GenesCYP11B2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246794
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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