A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278878



Internal ID22133139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:114343367..114449237hg38UCSC Ensembl
Outerchr8:115355596..115461466hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38105871
hg19105871
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228136
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278878
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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