A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266376



Internal ID22135196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:22455302..22489774hg38UCSC Ensembl
Outerchr20:22435940..22470412hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg382099
hg192099
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239762
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266376
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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