A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212469



Internal ID22359710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:87164753..87173091hg38UCSC Ensembl
Outerchr12:87558530..87566868hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg388339
hg198339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255794, nssv14255793
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212469
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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