nsv1188643
- 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:356,497
- 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: 1230 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1234 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 452 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1188643 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 53,430,319 | 53,786,815 |
| nsv1188643 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 55,190,079 | 55,546,575 |
| nsv1188643 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 54,860,085 | 55,216,581 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7459083 | copy number loss | 52198 | Oligo aCGH | Probe signal intensity | nssv7465120, nssv7473090 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7459083 | Remapped | Perfect | NC_000010.11:g.(?_ 53430319)_(5378681 5_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 53,430,319 | 53,786,815 |
| nssv7459083 | Remapped | Perfect | NC_000010.10:g.(?_ 55190079)_(5554657 5_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 55,190,079 | 55,546,575 |
| nssv7459083 | Submitted genomic | NC_000010.9:g.(?_5 4860085)_(55216581 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 54,860,085 | 55,216,581 |