A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227754



Internal ID22370151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:33453822..33461644hg38UCSC Ensembl
Outerchr20:32041628..32049450hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg387823
hg197823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266267, nssv14266269, nssv14266271, nssv14266270, nssv14266268
SamplesHG00512, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227754
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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