A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278866



Internal ID22133137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:59728500..59789452hg38UCSC Ensembl
Outerchr8:60641059..60702011hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3860953
hg1960953
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228542
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278866
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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