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Figure 1 | Human Genomics

Figure 1

From: Vive la différence: naming structural variants in the human reference genome

Figure 1

Finding gene nomenclature for structural variants on the HGNC website. (A) This shows the top of the Gene Symbol Report for the C4B_2 gene. Users can see that this gene is annotated on an alternate locus due to the two fields indicated with red boxes. The ‘Chromosomal Location’ field shows the assembly unit name for the alternate locus on which C4B_2 is located, while the ‘NUCLEOTIDE SEQUENCES’ field contains the sequence accession for the assembly unit; clicking on the links will take users to the sequence accession record. (B) Users can view and download statistics for named genes only found on variant assembly units using our ‘Alternative Loci Statistics’ table. They can choose simply to download the approved symbols, names and related information using the ‘Text’ button or click the ‘Custom’ button to be taken to our Custom Downloads tool, which allows users to select the exact data fields that they wish to download.

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