nsv6315008
- Organism: Homo sapiens
- Study:nstd221 (Bao et al. 2022b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,164
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: 829 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 829 SVs from 76 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315008 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 171,252 | 216,415 | ||
| nsv6315008 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 221,251 | 266,414 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv17976489 | deletion | LYB | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976489 | Submitted genomic | NC_000016.10:g.171 252_216415del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 171,252 | 216,415 | ||
| nssv17976489 | Remapped | Perfect | NC_000016.9:g.2212 51_266414del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 221,251 | 266,414 |