nsv5214203
- 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:14,397
- 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: 131 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5214203 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 70,783,961 | 70,798,357 | ||
| nsv5214203 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000002.11 | Chr2 | 71,011,093 | 71,025,489 |
| nsv5214203 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004504299.1 | Chr2|NW_00 4504299.1 | 350,243 | 364,639 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16794759 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16794759 | Submitted genomic | GRCh38.p13 | NC_000002.12 | Chr2 | 70,783,961 | 70,798,357 | ||
| nssv16794759 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004504299.1 | Chr2|NW_00 4504299.1 | 350,243 | 364,639 |
| nssv16794759 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000002.11 | Chr2 | 71,011,093 | 71,025,489 |