nsv1189231
- 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:130,401
- 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: 389 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 389 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189231 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 77,487,270 | 77,617,670 |
| nsv1189231 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 79,247,028 | 79,377,428 |
| nsv1189231 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 78,917,034 | 79,047,434 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7470242 | copy number loss | 43525 | Oligo aCGH | Probe signal intensity | nssv7474441 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7470242 | Remapped | Perfect | NC_000010.11:g.(?_ 77487270)_(7761767 0_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 77,487,270 | 77,617,670 |
| nssv7470242 | Remapped | Perfect | NC_000010.10:g.(?_ 79247028)_(7937742 8_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 79,247,028 | 79,377,428 |
| nssv7470242 | Submitted genomic | NC_000010.9:g.(?_7 8917034)_(79047434 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 78,917,034 | 79,047,434 |