A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266268



Internal ID22135146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:33453822..33461644hg38UCSC Ensembl
Outerchr20:32041628..32049450hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg387823
hg197823
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227754
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266268
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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