nsv1053902
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:114,936
- 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: 959 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 959 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 495 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1053902 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 136,981,715 | 137,096,650 |
| nsv1053902 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 139,876,167 | 139,991,102 |
| nsv1053902 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 138,995,988 | 139,110,923 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3457124 | copy number loss | 9879613 | Oligo aCGH | Probe signal intensity | nssv3457374, nssv3467481 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3457124 | Remapped | Perfect | NC_000009.12:g.(?_ 136981715)_(137096 650_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 136,981,715 | 137,096,650 |
| nssv3457124 | Remapped | Perfect | NC_000009.11:g.(?_ 139876167)_(139991 102_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 139,876,167 | 139,991,102 |
| nssv3457124 | Submitted genomic | NC_000009.10:g.(?_ 138995988)_(139110 923_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 138,995,988 | 139,110,923 |