nsv1048589
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:245,603
- Publication(s):Coe et al. 2014
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: 906 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 902 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1048589 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 67,736,173 | 67,981,775 |
| nsv1048589 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 67,503,644 | 67,749,246 |
| nsv1048589 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 67,260,220 | 67,505,822 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3710633 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3710633 | Remapped | Perfect | NC_000011.10:g.(?_ 67736173)_(6798177 5_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,736,173 | 67,981,775 |
| nssv3710633 | Remapped | Perfect | NC_000011.9:g.(?_6 7503644)_(67749246 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 67,503,644 | 67,749,246 |
| nssv3710633 | Submitted genomic | NC_000011.8:g.(?_6 7260220)_(67505822 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 67,260,220 | 67,505,822 |