A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218214



Internal ID22363627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:55857199..55874399hg38UCSC Ensembl
Outerchr20:54432255..54449455hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3817201
hg1917201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267190, nssv14267193, nssv14267192, nssv14267194, nssv14267191, nssv14267195
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218214
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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