A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256384



Internal ID22217044
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218977
Supporting Variants
SamplesHG00733
Known GenesCNOT2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256384
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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