A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278874



Internal ID22136025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:92290657..92340535hg38UCSC Ensembl
Outerchr8:93302885..93352763hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3849879
hg1949879
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219982
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278874
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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