A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266317



Internal ID22203536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:25760617..25857012hg38UCSC Ensembl
Outerchr20:25741253..25837648hg19UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg3896396
hg1996396
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228716
Supporting Variants
SamplesHG00732
Known GenesFAM182B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266317
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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