A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278879



Internal ID22140147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:115677131..115714829hg38UCSC Ensembl
Outerchr8:116689358..116727056hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3837699
hg1937699
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216245
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278879
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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