nsv5594477
- 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:375
- 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: 167 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5594477 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 50,766,754 | 50,767,128 | ||
| nsv5594477 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 48,844,115 | 48,844,489 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17081858 | deletion | SAMN00001695 | Sequencing | Sequence alignment | 6,153 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17081858 | Submitted genomic | NC_000017.11:g.507 66754_50767128delG | GRCh38 (hg38) | NC_000017.11 | Chr17 | 50,766,754 | 50,767,128 | ||
| nssv17081858 | Remapped | Perfect | NC_000017.10:g.488 44115_48844489delG | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 48,844,115 | 48,844,489 |