nsv5912038
- 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:458
- 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: 104 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5912038 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 70,866,737 | 70,867,194 | ||
| nsv5912038 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 70,712,842 | 70,713,299 |
| nsv5912038 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 410,950 | 411,407 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17362055 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17362055 | Submitted genomic | NC_000011.10:g.708 66737_70867194del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 70,866,737 | 70,867,194 | ||
| nssv17362055 | Remapped | Perfect | NW_004070871.1:g.4 10950_411407del | GRCh37.p13 | First Pass | NW_004070871.1 | Chr11|NW_0 04070871.1 | 410,950 | 411,407 |
| nssv17362055 | Remapped | Perfect | NC_000011.9:g.7071 2842_70713299del | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 70,712,842 | 70,713,299 |