A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218977



Internal ID22364144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70190654..70253631hg38UCSC Ensembl
Outerchr12:70584434..70647411hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3862978
hg1962978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256384, nssv14256383
SamplesHG00732, HG00733
Known GenesCNOT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218977
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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