A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220761



Internal ID22365367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12094616..12109125hg38UCSC Ensembl
Outerchr12:12247550..12262059hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3814510
hg1914510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255522, nssv14255521
SamplesNA19238, HG00513
Known GenesBCL2L14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220761
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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