A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220333



Internal ID22365058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:913427..922956hg38UCSC Ensembl
Outerchr12:1022593..1032122hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389530
hg199530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254999, nssv14254998, nssv14255000
SamplesNA19238, HG00733, HG00513
Known GenesRAD52
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220333
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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