nsv1195352
- 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:189,402
- 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: 1201 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1201 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 527 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1195352 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 2,950,860 | 3,140,261 |
| nsv1195352 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 2,867,425 | 3,056,825 |
| nsv1195352 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 2,857,285 | 3,046,685 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7464154 | copy number gain | 31908 | Oligo aCGH | Probe signal intensity | nssv7460148 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7464154 | Remapped | Good | NC_000001.11:g.(?_ 2950860)_(3140261_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 2,950,860 | 3,140,261 |
| nssv7464154 | Remapped | Perfect | NC_000001.10:g.(?_ 2867425)_(3056825_ ?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 2,867,425 | 3,056,825 |
| nssv7464154 | Submitted genomic | NC_000001.9:g.(?_2 857285)_(3046685_? )dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 2,857,285 | 3,046,685 |