nsv5867973
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,597
- Publication(s):Almarri et al. 2020
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: 95 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 204 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 9 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5867973 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 149,793,568 | 149,796,164 | ||
| nsv5867973 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 149,765,124 | 149,767,720 |
| nsv5867973 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,608,981 | 6,611,577 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17350627 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17350627 | Submitted genomic | NC_000001.11:g.149 793568_149796164de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 149,793,568 | 149,796,164 | ||
| nssv17350627 | Remapped | Perfect | NW_003871055.3:g.6 608981_6611577del | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,608,981 | 6,611,577 |
| nssv17350627 | Remapped | Perfect | NC_000001.10:g.149 765124_149767720de l | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 149,765,124 | 149,767,720 |