nsv5590515
- 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:58
- 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: 373 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 272 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5590515 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 402,966 | 403,023 | ||
| nsv5590515 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 252,757 | 252,814 |
| nsv5590515 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003315951.1 | Chr17|NW_0 03315951.1 | 329 | 386 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17095091 | Submitted genomic | NC_000017.11:g.402 966_403023delC | GRCh38 (hg38) | NC_000017.11 | Chr17 | 402,966 | 403,023 | ||
| nssv17095091 | Remapped | Perfect | NW_003315951.1:g.3 29_386delC | GRCh37.p13 | First Pass | NW_003315951.1 | Chr17|NW_0 03315951.1 | 329 | 386 |
| nssv17095091 | Remapped | Perfect | NC_000017.10:g.252 757_252814delC | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 252,757 | 252,814 |