A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266902



Internal ID22135328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1875730..1893034hg38UCSC Ensembl
Outerchr20:1856376..1873680hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382474
hg192474
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238498
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266902
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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