A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267480



Internal ID22187552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32528504..32564020hg38UCSC Ensembl
Outerchr20:31116307..31151822hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38844
hg19844
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247572
Supporting Variants
SamplesHG00731
Known GenesC20orf112
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267480
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer