| Id: | hg38/cnv_collections/SFARI_gene_CNV |
| Type: | cnv_collection |
| Version: | 0 |
| Summary: |
SFARI_Gene CNV collection |
| Description: |
SFARI_Gene CNV collection provides information about copy number variations (CNVs) associated with autism spectrum disorder (ASD). Downloaded on 12/11/2024 from https://gene.sfari.org//wp-content/themes/sfari-gene/utilities/download-csv.php?api-endpoint=cnvs DataPrep.py converts raw file to GRR format. |
| Labels: |
| ID | Type | Default annotation | Description | Histogram | Range |
|---|---|---|---|---|---|
| deletion_duplication | str |
deletion_duplication |
duplication or deletion
|
 |
Deletion-Duplication, Duplication, Deletion |
| cnv_name | str |
cnv_name |
Handy name to refer to the CNV.
|
 |
1q21.1 Deletion-Duplication, 15q13.3 Deletion-Duplication, 16p13.3 Deletion-Duplication, 16p13.11 Deletion-Duplication, 16p12.2 Deletion-Duplication, 16p11.2 Deletion-Duplication, 17p11.2 Deletion-Duplication, 17q11.2 Deletion-Duplication, 17q12 Deletion-Duplication, 2p16.3 Deletion-Duplication, 2q11.2 Deletion-Duplication, 22q11.2 Duplication, 22q13.3 Deletion, 3q29 Deletion-Duplication, 5q35 Duplication, 7q11.23 Deletion-Duplication, 8p23.1 Deletion-Duplication |
| Filename | Size | md5 |
|---|---|---|
| DataPrep.py | 1.39 KB | 5ca53b09fc817b048afa2628094f71c0 |
| SFARI-Gene_cnvs_10-09-2024release_12-11-2024export.csv | 1.24 KB | fc9b4f11f693a68aac43db53e6eee64f |
| SFARI_gene_CNV.txt | 1.76 KB | 2e5675a9e88e474f94d3a7054297b364 |
| genomic_resource.yaml | 973.0 B | 66a5e2795e2e7afa303190e0c15a6a7e |
| statistics/ |