nsv5323275
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:253,620
- Publication(s):Chen et al. 2021
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1364 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1364 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5323275 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000018.10 | Chr18 | 66,414,808 (-1, +1) | 66,668,427 (-1) | ||
| nsv5323275 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 64,082,045 (-1, +1) | 64,335,664 (-1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16774746 | deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16774746 | Submitted genomic | NC_000018.10:g.(66 414807_66414809)_( 66668426_?)del | GRCh38.p13 | NC_000018.10 | Chr18 | 66,414,808 (-1, +1) | 66,668,427 (-1) | ||
| nssv16774746 | Remapped | Perfect | NC_000018.9:g.(640 82044_64082046)_(6 4335663_?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 64,082,045 (-1, +1) | 64,335,664 (-1) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16774746 | 0.008 |