A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268122



Internal ID22203853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:25762814..25784644hg38UCSC Ensembl
Outerchr20:25743450..25765280hg19UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg38862
hg19862
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244729
Supporting Variants
SamplesHG00732
Known GenesFAM182B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268122
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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