Skip to content
GitLab
Projects Groups Topics Snippets
  • /
  • Help
    • Help
    • Support
    • Community forum
    • Submit feedback
  • Sign in
  • A Actionability
  • Project information
    • Project information
    • Activity
    • Members
  • Wiki
    • Wiki
  • Activity
Collapse sidebar
  • ClinGenClinGen
  • Actionability
  • Wiki
  • Chromosomal Abnormalities

Chromosomal Abnormalities · Changes

Page history
Updated coordinates for Velocardiofacial syndrome and added references authored Mar 23, 2023 by Neethu Shah's avatar Neethu Shah
Hide whitespace changes
Inline Side-by-side
Chromosomal-Abnormalities.md
View page @ 44c4b474
......@@ -137,9 +137,16 @@
</tr>
<tr>
<td>Velocardiofacial syndrome</td>
<td>GRCh38 21q11.2(chr21:150000-160000del)</td>
<td>GRCh37 22q11.2(chr22:18912231-21465672del),(chr22:20731986-21465672del)</td>
<td>Structural Variant</td>
<td>The specific microdeletion(s) genomic variants should be provided as SV. Vague "some microdeletions somewhere in a band of the q-arm" not supported. Deletion of whole 22q11.2 cytoband supported via equivalent genomic coordinates; best as a deletion SV than an x0 CNV</td>
<td>
The specific microdeletion(s) genomic variants should be provided as SV. Vague "some microdeletions somewhere in a band of the q-arm" not supported. Deletion of whole 22q11.2 cytoband supported via equivalent genomic coordinates; best as a deletion SV than an x0 CNV<br>References:
* <https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37516>
* <https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37446>
* <https://www.ncbi.nlm.nih.gov/books/NBK1523/>
</td>
</tr>
</table>
......
Clone repository
  • Actionabilty APIs
  • Chromosomal Abnormalities
  • Home