nsv5599601
- 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:87
- 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: 370 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5599601 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 403,227 | 403,313 | ||
| nsv5599601 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 253,018 | 253,104 |
| nsv5599601 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315951.1 | Chr17|NW_0 03315951.1 | 590 | 676 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17098174 | deletion | SAMN00006580 | Sequencing | Sequence alignment | 9,409 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17098174 | Submitted genomic | NC_000017.11:g.403 227_403313delC | GRCh38 (hg38) | NC_000017.11 | Chr17 | 403,227 | 403,313 | ||
| nssv17098174 | Remapped | Perfect | NW_003315951.1:g.5 90_676delC | GRCh37.p13 | First Pass | NW_003315951.1 | Chr17|NW_0 03315951.1 | 590 | 676 |
| nssv17098174 | Remapped | Perfect | NC_000017.10:g.253 018_253104delC | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 253,018 | 253,104 |