nsv1061390
- 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:159,916
- 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: 2503 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2503 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 553 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1061390 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 14,798,143 | 14,958,058 |
| nsv1061390 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 14,778,789 | 14,938,704 |
| nsv1061390 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 14,726,789 | 14,886,704 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3477904 | copy number loss | 9864623 | Oligo aCGH | Probe signal intensity | nssv3446667, nssv3449945, nssv3475056 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3477904 | Remapped | Perfect | NC_000020.11:g.(?_ 14798143)_(1495805 8_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,798,143 | 14,958,058 |
| nssv3477904 | Remapped | Perfect | NC_000020.10:g.(?_ 14778789)_(1493870 4_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 14,778,789 | 14,938,704 |
| nssv3477904 | Submitted genomic | NC_000020.9:g.(?_1 4726789)_(14886704 _?)del | NCBI36 (hg18) | NC_000020.9 | Chr20 | 14,726,789 | 14,886,704 |