nsv38
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,789
- Publication(s):Tuzun et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 394 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv38 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 125,581,221 | 125,627,009 |
| nsv38 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 126,593,465 | 126,639,253 |
| nsv38 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 126,662,647 | 126,708,435 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv38 | deletion | SAMN00000376 | Sequencing | Paired-end mapping | 297 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv38 | Remapped | Perfect | NC_000008.11:g.(12 5581221_?)_(?_1256 27009)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 125,581,221 | 125,627,009 |
| nssv38 | Remapped | Perfect | NC_000008.10:g.(12 6593465_?)_(?_1266 39253)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 126,593,465 | 126,639,253 |
| nssv38 | Submitted genomic | NC_000008.9:g.(126 662647_?)_(?_12670 8435)del10798 | NCBI35 (hg17) | NC_000008.9 | Chr8 | 126,662,647 | 126,708,435 |