A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14093728



Internal ID21283581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72641093..73233745hg38UCSC Ensembl
Innerchr12:73034873..73627525hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38592653
hg19592653
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111997
Supporting Variants
Samplessample346
Known GenesTRHDE
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14093728
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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