nsv5253794
- 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:8,050
- 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: 170 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5253794 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000010.11 | Chr10 | 49,957,516 | 49,965,565 | ||
| nsv5253794 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000010.10 | Chr10 | 51,719,660 | 51,725,325 |
| nsv5253794 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004504302.1 | Chr10|NW_0 04504302.1 | 136,691 | 144,740 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16770669 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16770669 | Submitted genomic | GRCh38.p13 | NC_000010.11 | Chr10 | 49,957,516 | 49,965,565 | ||
| nssv16770669 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004504302.1 | Chr10|NW_0 04504302.1 | 136,691 | 144,740 |
| nssv16770669 | Remapped | Pass | GRCh37.p13 | Second Pass | NC_000010.10 | Chr10 | 51,719,660 | 51,725,325 |