# Manually add variants to a delivered case

In some cases, you may need to record variants that were not included in the uploaded VCF or not called from FASTQ data. This is particularly useful when:

* You are complementing NGS results with findings from other genetic tests (e.g., long-read sequencing, optical mapping, CGH, SNP array, karyotyping/FISH, repeat-primed PCR, MLPA, Southern blot, etc.)
* You wish to report on adjacent CNV calls as a single CNV event.
* You wish to report a set of adjacent variants together as a single multi-nucleotide variant (MNV).

Manually adding variants ensures that all relevant findings are visible in the case review and can be considered during interpretation.

Currently supported variant types: **SNV, CNV, UPD, ROH, and STR**.

{% hint style="info" %}
**Note:** SV support is planned for future releases.
{% endhint %}

![](https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-1d5b224c4b040c9716e55e141b733bcde7898281%2Fmanually_add_variants_to_a_delivered_case_1_manual.gif?alt=media)

***

## To manually add a variant:

1. Open the **Analysis Tools** tab.
2. Click the **plus (+) button** in the top-right corner.

![](https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-eab25bc0038b1eadeaa0030f8609126bf348a953%2Fmanually_add_variants_to_a_delivered_case_2_man_va.png?alt=media)

{% hint style="info" %}
**Note:** If you do not see the option, please contact support to verify your user role permissions.
{% endhint %}

3. In the **Manually Add Variant** window, select the variant type: SNV, CNV, UPD, ROH, or STR.
4. Fill in the details based on the selected type:

{% tabs %}
{% tab title="SNV or ROH" %}

* Chromosome,
* Position,
* REF,
* ALT,
* Zygosity

<figure><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-a832310e12c5dc8ce9109a82b2579ccbcb551d7b%2Fimage%20(12)%20(1).png?alt=media" alt=""><figcaption></figcaption></figure>
{% endtab %}

{% tab title="CNV or UPD" %}

* Chromosome,
* Position Start,
* Position End,
* REF,
* ALT,
* Type:
  * CNV: DEL, DUP,
  * UPD: IUPDMAT (maternal isodisomy), IUPDPAT (paternal isodisomy), HUPDPAT (paternal heterodisomy), HUPDMAT (maternal heterodisomy),
* Zygosity

<figure><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-ba466c8577cb1b89506bc63abe27489a444a7238%2Fimage%20(13).png?alt=media" alt=""><figcaption></figcaption></figure>
{% endtab %}

{% tab title="STR" %}

* Chromosome,
* Position,
* REF Repeats Number,
* ALT Repeats Number,
* Repeats Unit,
* Zygosity

<figure><img src="https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-653693f480827b2891eefbdead94c106b5ddf5c4%2Fimage%20(14).png?alt=media" alt=""><figcaption></figcaption></figure>
{% endtab %}
{% endtabs %}

5. Click on **Create Variant** to add it to the case.

## Viewing manually added variants

* Manually added variants have a **blue frame** and are clearly marked with the label *“Manually added variant”* on the Variant page.
* These variants differ from pipeline-called variants:
  * **Quality** and **Visualization** sections are not available.
  * **Population Statistics** are not shown.
  * **Automatic ACMG scoring** is not applied, but you can still manually add ACMG tags, interpretation notes, and classifications.

![](https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-7dcd5dc6d79b24e9155355f26457867d3c472e62%2Fmanually_add_variants_to_a_delivered_case_3_man_va.png?alt=media)

## Sorting and formatting notes

* STR variants that are added manually do not fully align with the pipeline-called STR format. For example, variant length is not displayed.
* Manually added variants cannot be sorted by columns that do not apply, such as **AI Rank**.

{% hint style="success" %}
**Tip:** When reviewing manually added STRs, rely on the repeat numbers and unit provided, since length formatting is not included.
{% endhint %}

## Filtering manually added variants

To view only the variants you have added manually:

* In the **Evidence & Tags Filters** section, select **Manually added variants**.

![](https://1131024994-files.gitbook.io/~/files/v0/b/gitbook-x-prod.appspot.com/o/spaces%2FGCW0DnLlE7QjoZPNmKIi%2Fuploads%2Fgit-blob-160e6c98cd5b90de3d36d5a7f7cb199bafeca6dc%2Fmanually_add_variants_to_a_delivered_case_4_man_va.png?alt=media)

This helps you focus specifically on variants that were entered outside of the automated pipeline.
