Resource
| Id | hg38/cnv_collections/DGV |
|---|---|
| Type | fragment_score |
| Version | 0 |
| Summary | Database of Genomic Variants (DGV) CNV collection |
| Description |
The Database of Genomic Variants (DGV) is a curated resource that provides publicly available data on structural variation (e.g., deletions, duplications, insertions) in the human genome, collected from peer-reviewed studies. It serves as a key reference for understanding genomic variation in healthy individuals and distinguishing benign variants from disease-associated changes. Downloaded on 12/16/2024 from https://dgv.tcag.ca/dgv/docs/GRCh38_hg38_variants_2020-02-25.txt DataPrep.py converts raw file to GRR format. |
| Labels |
Scores (2)
| ID | Type | Default annotation | Description | Histogram | Range | Summary |
|---|---|---|---|---|---|---|
| deletion_duplication | str |
deletion_duplication |
duplication or deletion
|
 |
deletion, loss, insertion, duplication, alu insertion, gain, novel sequence insertion, line1 insertion, sequence alteration, sva insertion, gain+loss, complex, mobile element insertion, tandem duplication, inversion, alu deletion, line1 deletion, mobile element deletion, sva deletion, herv deletion, Other | |
| cnv_name | str |
cnv_name |
Handy name to refer to the CNV.
|
No histogram: Too many unique values 101 for categorical histogram. |
NO DOMAIN |
n counts fragments; sd is the population standard deviation.
Fragments
| Chromosome | Fragments |
|---|---|
| all chromosomes | 825428 |
| chr1 | 60440 |
| chr1_KI270706v1_random | 45 |
| chr1_KI270766v1_alt | 4 |
| chr2 | 63804 |
| chr2_KI270773v1_alt | 4 |
| chr2_KI270894v1_alt | 11 |
| chr3 | 50047 |
| chr4 | 53640 |
| chr4_GL000008v2_random | 117 |
| chr5 | 48616 |
| chr6 | 48226 |
| chr7 | 50209 |
| chr7_KI270803v1_alt | 63 |
| chr8 | 42791 |
| chr8_KI270821v1_alt | 48 |
| chr9 | 36655 |
| chr10 | 38429 |
| chr11 | 38062 |
| chr11_KI270927v1_alt | 2 |
| chr12 | 38318 |
| chr13 | 27634 |
| chr14 | 25295 |
| chr14_GL000009v2_random | 88 |
| chr14_KI270846v1_alt | 1 |
| chr15 | 23575 |
| chr15_KI270727v1_random | 4 |
| chr15_KI270850v1_alt | 22 |
| chr16 | 28630 |
| chr16_KI270728v1_random | 2 |
| chr17 | 27129 |
| chr17_KI270857v1_alt | 24 |
| chr17_KI270909v1_alt | 8 |
| chr18 | 22644 |
| chr19 | 25103 |
| chr19_KI270938v1_alt | 18 |
| chr20 | 18852 |
| chr21 | 13077 |
| chr22 | 14671 |
| chr22_KI270879v1_alt | 15 |
| chrN | 85 |
| chrUn_KI270742v1 | 58 |
| chrX | 26469 |
| chrY | 2493 |
Fragment lengths
| fragments | min | max | mean | median | |
|---|---|---|---|---|---|
| fragments | 825428 | 1 | 104173865 | 19066.59 | 460 |
×
Files
| Filename | Size | md5 |
|---|---|---|
| DataPrep.py | 681.0 B | 5046dfa84795f7f2b22720161a04c745 |
| GRCh38_hg38_variants_2020-02-25.txt | 208.69 MB | 9a9267b3bd5889e97751ef1dec097ac0 |
| genomic_resource.yaml | 1.27 KB | 6d6ef3c0f9669a8add1df243a71ac926 |
| prepped_GRCh38_hg38_variants_2020-02-25.txt.gz | 43.95 MB | 1cfdf52681c3d2baaafd867ce10e3e88 |
| prepped_GRCh38_hg38_variants_2020-02-25.txt.gz.tbi | 164.04 KB | d8dc5087a6918b4108be48b42b2addc1 |
| statistics/ |