A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279065



Internal ID22193403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:86159888..86203490hg38UCSC Ensembl
Outerchr8:87172117..87215719hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3843603
hg1943603
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218696
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279065
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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