nsv5241991
- 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:127,800
- 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: 717 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 680 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 315 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5241991 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000008.11 | Chr8 | 143,750,701 | 143,878,500 | ||
| nsv5241991 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 144,832,871 | 144,952,668 |
| nsv5241991 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 89,346 | 217,145 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16860420 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16860420 | Submitted genomic | GRCh38.p13 | NC_000008.11 | Chr8 | 143,750,701 | 143,878,500 | ||
| nssv16860420 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003315923.1 | Chr8|NW_00 3315923.1 | 89,346 | 217,145 |
| nssv16860420 | Remapped | Pass | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 144,832,871 | 144,952,668 |