A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280939



Internal ID22134845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42519225..42523112hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg383888
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211283
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280939
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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