nsv1189109
- 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:720,837
- 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: 3417 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 3417 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1264 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189109 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 22,908,824 | 23,629,660 |
| nsv1189109 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 23,091,626 | 23,812,462 |
| nsv1189109 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 22,883,466 | 23,604,302 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7460495 | copy number gain | 13214 | Oligo aCGH | Probe signal intensity | nssv7463112, nssv7468777, nssv7469782 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7460495 | Remapped | Perfect | NC_000019.10:g.(?_ 22908824)_(2362966 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 22,908,824 | 23,629,660 |
| nssv7460495 | Remapped | Perfect | NC_000019.9:g.(?_2 3091626)_(23812462 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 23,091,626 | 23,812,462 |
| nssv7460495 | Submitted genomic | NC_000019.8:g.(?_2 2883466)_(23604302 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 22,883,466 | 23,604,302 |