A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266464



Internal ID22291347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:20349462..20365346hg38UCSC Ensembl
Outerchr20:20330106..20345990hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381247
hg191247
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249820
Supporting Variants
SamplesNA19240
Known GenesC20orf26
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266464
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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