nsv1196279
- 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:496,941
- 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: 1600 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1600 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 539 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1196279 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 91,371,986 | 91,868,926 |
| nsv1196279 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 92,024,240 | 92,521,180 |
| nsv1196279 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 90,822,241 | 91,319,181 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7467143 | copy number gain | 27485 | Oligo aCGH | Probe signal intensity | nssv7466597 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7467143 | Remapped | Perfect | NC_000013.11:g.(?_ 91371986)_(9186892 6_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 91,371,986 | 91,868,926 |
| nssv7467143 | Remapped | Perfect | NC_000013.10:g.(?_ 92024240)_(9252118 0_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 92,024,240 | 92,521,180 |
| nssv7467143 | Submitted genomic | NC_000013.9:g.(?_9 0822241)_(91319181 _?)dup | NCBI36 (hg18) | NC_000013.9 | Chr13 | 90,822,241 | 91,319,181 |