nsv5570249
- Organism: Homo sapiens
- Study:nstd207 (Ebert 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:59
- Publication(s):Ebert 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: 543 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 656 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5570249 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 148,280,049 | 148,280,107 | ||
| nsv5570249 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 147,752,155 | 147,752,213 |
| nsv5570249 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 5,095,462 | 5,095,520 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17060957 | deletion | SAMN00001695 | Sequencing | Sequence alignment | 6,153 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17060957 | Submitted genomic | NC_000001.11:g.148 280049_148280107de lG | GRCh38 (hg38) | NC_000001.11 | Chr1 | 148,280,049 | 148,280,107 | ||
| nssv17060957 | Remapped | Perfect | NW_003871055.3:g.5 095462_5095520delG | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 5,095,462 | 5,095,520 |
| nssv17060957 | Remapped | Perfect | NC_000001.10:g.147 752155_147752213de lG | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 147,752,155 | 147,752,213 |