A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220029



Internal ID22364858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:73396725..73427546hg38UCSC Ensembl
Outerchr12:73790505..73821326hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3830822
hg1930822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1901n152
Supporting Variantsnssv14256344, nssv14256345
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220029
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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