nsv6290358
- Organism: Homo sapiens
- Study:nstd219 (Bao et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,903
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: 165 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290358 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 5,226,189 | 5,231,091 | ||
| nsv6290358 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 5,247,419 | 5,252,321 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv17956058 | deletion | CRH | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956058 | Submitted genomic | NC_000011.10:g.522 6189_5231091del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 5,226,189 | 5,231,091 | ||
| nssv17956058 | Remapped | Perfect | NC_000011.9:g.5247 419_5252321del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 5,247,419 | 5,252,321 |