nsv5600199
- 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:203
- 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: 372 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5600199 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 403,633 | 403,835 | ||
| nsv5600199 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 253,424 | 253,626 |
| nsv5600199 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315951.1 | Chr17|NW_0 03315951.1 | 996 | 1,198 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17086788 | deletion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17086788 | Submitted genomic | NC_000017.11:g.403 633_403835delC | GRCh38 (hg38) | NC_000017.11 | Chr17 | 403,633 | 403,835 | ||
| nssv17086788 | Remapped | Perfect | NW_003315951.1:g.9 96_1198delC | GRCh37.p13 | First Pass | NW_003315951.1 | Chr17|NW_0 03315951.1 | 996 | 1,198 |
| nssv17086788 | Remapped | Perfect | NC_000017.10:g.253 424_253626delC | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 253,424 | 253,626 |