A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266847



Internal ID22187218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2834653..2843213hg38UCSC Ensembl
Outerchr20:2815299..2823859hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg388561
hg198561
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226810
Supporting Variants
SamplesHG00731
Known GenesPCED1A, VPS16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266847
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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