nsv5599688
- 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:607
- 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: 196 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5599688 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 39,291,894 | 39,292,500 | ||
| nsv5599688 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 37,448,147 | 37,448,753 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17096449 | deletion | SAMN00001694 | Sequencing | Sequence alignment | 8,610 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17096449 | Submitted genomic | NC_000017.11:g.392 91894_39292500delT | GRCh38 (hg38) | NC_000017.11 | Chr17 | 39,291,894 | 39,292,500 | ||
| nssv17096449 | Remapped | Perfect | NC_000017.10:g.374 48147_37448753delT | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 37,448,147 | 37,448,753 |