nsv1195505
- 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:818,936
- 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: 2230 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2230 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 644 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1195505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 60,308,440 | 61,127,375 |
| nsv1195505 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 60,702,221 | 61,521,156 |
| nsv1195505 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 58,988,488 | 59,807,423 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7464305 | copy number gain | 46675 | Oligo aCGH | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7464305 | Remapped | Perfect | NC_000012.12:g.(?_ 60308440)_(6112737 5_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 60,308,440 | 61,127,375 |
| nssv7464305 | Remapped | Perfect | NC_000012.11:g.(?_ 60702221)_(6152115 6_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 60,702,221 | 61,521,156 |
| nssv7464305 | Submitted genomic | NC_000012.10:g.(?_ 58988488)_(5980742 3_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 58,988,488 | 59,807,423 |