A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256345



Internal ID22231199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:73396725..73427546hg38UCSC Ensembl
Outerchr12:73790505..73821326hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3830822
hg1930822
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220029
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256345
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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