nsv2787492
- Organism: Homo sapiens
- Study:nstd132 (Walker et al. 2017)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:830,646
- Publication(s):Walker et al. 2017
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: 2714 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 2714 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 704 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2787492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 49,640,268 | 50,470,913 |
| nsv2787492 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 48,256,805 | 49,087,450 |
| nsv2787492 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 47,690,212 | 48,520,857 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13666079 | copy number loss | CGPQ-1801 | SNP array | Genotyping | 78 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13666079 | Remapped | Perfect | NC_000020.11:g.(?_ 49640268)_(5047091 3_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 49,640,268 | 50,470,913 |
| nssv13666079 | Remapped | Perfect | NC_000020.10:g.(?_ 48256805)_(4908745 0_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 48,256,805 | 49,087,450 |
| nssv13666079 | Submitted genomic | NC_000020.9:g.(?_4 7690212)_(48520857 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 47,690,212 | 48,520,857 |