nsv1187882
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:483,430
- Publication(s):Polyak et al. 2015
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: 1745 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1749 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 682 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1187882 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 21,200,153 | 21,683,582 |
| nsv1187882 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 22,572,472 | 23,055,902 |
| nsv1187882 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 21,494,343 | 21,977,773 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7462000 | copy number gain | 67145 | Oligo aCGH | Probe signal intensity | nssv7465558, nssv7468395 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7462000 | Remapped | Perfect | NC_000021.9:g.(?_2 1200153)_(21683582 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,200,153 | 21,683,582 |
| nssv7462000 | Remapped | Perfect | NC_000021.8:g.(?_2 2572472)_(23055902 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 22,572,472 | 23,055,902 |
| nssv7462000 | Submitted genomic | NC_000021.7:g.(?_2 1494343)_(21977773 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 21,494,343 | 21,977,773 |