nsv5591811
- 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:55
- 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: 62 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5591811 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 14,252,268 | 14,252,322 | ||
| nsv5591811 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 14,273,814 | 14,273,868 |
| nsv5591811 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871075.1 | Chr11|NW_0 03871075.1 | 310,352 | 310,406 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17073378 | Submitted genomic | NC_000011.10:g.142 52268_14252322delA | GRCh38 (hg38) | NC_000011.10 | Chr11 | 14,252,268 | 14,252,322 | ||
| nssv17073378 | Remapped | Perfect | NW_003871075.1:g.3 10352_310406delA | GRCh37.p13 | First Pass | NW_003871075.1 | Chr11|NW_0 03871075.1 | 310,352 | 310,406 |
| nssv17073378 | Remapped | Perfect | NC_000011.9:g.1427 3814_14273868delA | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 14,273,814 | 14,273,868 |