A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246058



Internal ID22376310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:99647929..99656775hg38UCSC Ensembl
Outerchr8:100660157..100669003hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg383347
hg193347
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281018, nssv14281019
SamplesHG00513, HG00514
Known GenesVPS13B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246058
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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