A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278868



Internal ID22134695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:76872055..76987838hg38UCSC Ensembl
Outerchr8:77784291..77900074hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38115784
hg19115784
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211215
Supporting Variants
SamplesHG00513
Known GenesPEX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278868
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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