A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266455



Internal ID22146254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:20291773..20328074hg38UCSC Ensembl
Outerchr20:20272417..20308718hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381467
hg191467
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236701
Supporting Variants
SamplesHG00514
Known GenesC20orf26
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266455
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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