nsv1191300
- 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:367,622
- 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: 1178 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1178 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1191300 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 49,785,529 | 50,153,150 |
| nsv1191300 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 49,822,962 | 50,190,583 |
| nsv1191300 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 49,797,966 | 50,165,587 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7463569 | copy number loss | 23 | Oligo aCGH | Probe signal intensity | nssv7459825, nssv7459853 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7463569 | Remapped | Perfect | NC_000003.12:g.(?_ 49785529)_(5015315 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 49,785,529 | 50,153,150 |
| nssv7463569 | Remapped | Perfect | NC_000003.11:g.(?_ 49822962)_(5019058 3_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 49,822,962 | 50,190,583 |
| nssv7463569 | Submitted genomic | NC_000003.10:g.(?_ 49797966)_(5016558 7_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 49,797,966 | 50,165,587 |