A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268048



Internal ID22204027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63154252..63170015hg38UCSC Ensembl
Outerchr20:61785604..61801367hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382757
hg192757
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247753
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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