A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267288



Internal ID22121496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:53834668..53847561hg38UCSC Ensembl
Outerchr20:52451207..52464100hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237111
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267288
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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