# Variant Overview

This section is only available for variant biomarkers.

### Common Information

<table data-header-hidden><thead><tr><th width="230">Field Name</th><th>Description</th></tr></thead><tbody><tr><td>Variant Type</td><td>Type of the variant (e.g., SNV, insertion, deletion, MNV, etc.)</td></tr><tr><td>Chromosome</td><td>Chromosome number, X, Y, or MT</td></tr><tr><td>Start</td><td>Start position.</td></tr><tr><td>Stop</td><td>Stop position.</td></tr><tr><td>Matched End Chromosome</td><td>Mate chromosome of a translocation.</td></tr><tr><td>Matched End Position</td><td>Mate position of a translocation.</td></tr><tr><td>Ref Allele</td><td>The reference allele.</td></tr><tr><td>Alt Allele</td><td>The alternate allele.</td></tr><tr><td>HGVSG</td><td>HGVSG nomenclature.</td></tr><tr><td>Selected Transcript HGVS</td><td>HGVSc and HGVSp (in both 3-letter and 1-letter form) change on the selected transcript.</td></tr><tr><td>ISCN</td><td>ISCN nomenclature.</td></tr><tr><td>Selected Transcript Exons</td><td>Exon impacted of the selected transcript.</td></tr><tr><td>Selected Transcript Consequences</td><td>Consequences of the variant on the selected transcript, in Sequence Ontology terms.</td></tr><tr><td>Selected Transcript Gene</td><td>Gene symbol of the selected transcript.</td></tr><tr><td>Exons</td><td>Exon number(s) and the total exons for the active transcript, as applicable. A comma-delimited list is used for multiple exons.</td></tr><tr><td>Cytogenetic Band</td><td>Cytoband of variant.</td></tr><tr><td>All Consequences</td><td>Consequences of the variant across all transcripts, in Sequence Ontology terms.</td></tr></tbody></table>

> **Note:** Additional details present in the INFO field of the variant from the VCF will also be displayed here.

### External Links

| **Field Name** | **Description**                                                                                                                                                                                                                                                                                                                 |
| -------------- | ------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- |
| Database       | Database Description                                                                                                                                                                                                                                                                                                            |
| IGV            | Integrative Genomics Viewer (IGV) is an open-source genome browser and visualization tool used to observe biologically interesting patterns in genomic data sets, including sequence data, gene models, alignments, and data from DNA microarrays.                                                                              |
| LOVD           | The Leiden Open Variation Database (LOVD) is an open-source database focused on the combination between a gene and a genetic (heritable) disease.                                                                                                                                                                               |
| UCSC Browser   | An interactive database offering access to genome sequence data from various vertebrate and invertebrate species and major model organisms, integrated with a large collection of aligned annotations.                                                                                                                          |
| Ensembl        | A bioinformatics project organizing biological information around the sequences of large genomes. It is a comprehensive source of stable automatic annotation of individual genomes, and of the synteny and orthology relationships between them..                                                                              |
| gnomAD         | A database that aggregates and harmonizes both exome and genome sequencing data from a wide variety of large-scale sequencing projects.                                                                                                                                                                                         |
| COSMIC         | An online database of somatically acquired mutations found in human cancer. This link opens COSMIC in a new browser tab.                                                                                                                                                                                                        |
| Google Scholar | <p>Google Scholar provides a way to broadly search for scholarly literature. Search across many disciplines and sources, including:<br>• Articles<br>• Theses<br>• Books<br>• Abstracts<br>This information comes from academic publishers, professional societies, online repositories, universities, and other web sites.</p> |
| PubMed         | PubMed allows you to search for literature for the variant.                                                                                                                                                                                                                                                                     |
| LitVar         | LitVar allows you to search for literature for the variant. This is available for any variant with an RSID.                                                                                                                                                                                                                     |
| Mastermind     | Mastermind allows you to search for literature for the variant. This is available for any variant with an hgvsg annotation.                                                                                                                                                                                                     |


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