nsv5217440
- 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:1,000
- 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: 561 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 387 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5217440 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000001.11 | Chr1 | 146,186,701 | 146,187,700 | ||
| nsv5217440 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 145,250,494 | 145,251,493 |
| nsv5217440 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 3,002,114 | 3,003,113 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16832278 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16832278 | Submitted genomic | GRCh38.p13 | NC_000001.11 | Chr1 | 146,186,701 | 146,187,700 | ||
| nssv16832278 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 3,002,114 | 3,003,113 |
| nssv16832278 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 145,250,494 | 145,251,493 |