A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226810



Internal ID22369490
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266847
SamplesHG00731
Known GenesPCED1A, VPS16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226810
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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