nsv5586477
- 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:174
- 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: 584 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 591 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5586477 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 19,267,332 | 19,267,505 | ||
| nsv5586477 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 19,720,201 | 19,720,374 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17097483 | deletion | SAMN00004622 | Sequencing | Sequence alignment | 1,208 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17097483 | Submitted genomic | NC_000014.9:g.1926 7332_19267505delA | GRCh38 (hg38) | NC_000014.9 | Chr14 | 19,267,332 | 19,267,505 | ||
| nssv17097483 | Remapped | Perfect | NC_000014.8:g.1972 0201_19720374delA | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 19,720,201 | 19,720,374 |