A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254672



Internal ID22254980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:80027399..80063664hg38UCSC Ensembl
Outerchr12:80421179..80457444hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3836266
hg1936266
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215000
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254672
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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