nsv5584741
- 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:262,931
- 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: 1486 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1413 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5584741 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 36,175,811 | 36,438,741 | ||
| nsv5584741 | Remapped | Good | GRCh37.p13 | PATCHES | First Pass | NW_003315949.1 | Chr17|NW_0 03315949.1 | 60,551 | 323,493 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17098243 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17098243 | Submitted genomic | NC_000017.11:g.361 75811_36438741delG | GRCh38 (hg38) | NC_000017.11 | Chr17 | 36,175,811 | 36,438,741 | ||
| nssv17098243 | Remapped | Good | NW_003315949.1:g.6 0551_323493delG | GRCh37.p13 | First Pass | NW_003315949.1 | Chr17|NW_0 03315949.1 | 60,551 | 323,493 |