A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255259



Internal ID22272059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:46234680..46239629hg38UCSC Ensembl
Outerchr12:46628463..46633412hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384950
hg194950
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216899
Supporting Variants
SamplesNA19239
Known GenesSLC38A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255259
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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