A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245863



Internal ID22376265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:263528..279751hg38UCSC Ensembl
Outerchr20:244169..260392hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381733
hg191733
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266876, nssv14266877
SamplesNA19238, HG00513
Known GenesC20orf96
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245863
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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