A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212694



Internal ID22359862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48467216..48530341hg38UCSC Ensembl
Outerchr20:47095462..47146879hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3863126
hg1951418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267185, nssv14267187, nssv14267184, nssv14267186
SamplesHG00512, NA19238, NA19239, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212694
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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