A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212674



Internal ID22359850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35246657..35254076hg38UCSC Ensembl
Outerchr22:35642650..35650069hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg387420
hg197420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269370, nssv14269372, nssv14269373, nssv14269371
SamplesHG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212674
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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