A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267832



Internal ID22135628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:59376126..59399138hg38UCSC Ensembl
Outerchr20:57951181..57974193hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38828
hg19828
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232911
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267832
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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