nsv1194953
- 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:3,137,143
- 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: 7048 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 7049 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 1624 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1194953 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 33,684,858 | 36,822,000 |
| nsv1194953 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 34,150,458 | 37,287,601 |
| nsv1194953 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 33,923,045 | 37,060,188 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7474956 | copy number loss | 22437 | Oligo aCGH | Probe signal intensity | nssv7461229, nssv7472459, nssv7473432 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7474956 | Remapped | Perfect | NC_000001.11:g.(?_ 33684858)_(3682200 0_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 33,684,858 | 36,822,000 |
| nssv7474956 | Remapped | Perfect | NC_000001.10:g.(?_ 34150458)_(3728760 1_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 34,150,458 | 37,287,601 |
| nssv7474956 | Submitted genomic | NC_000001.9:g.(?_3 3923045)_(37060188 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 33,923,045 | 37,060,188 |