nsv1190391
- 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:66,067
- 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: 376 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1190391 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 186,525,153 | 186,591,219 |
| nsv1190391 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 187,389,880 | 187,455,946 |
| nsv1190391 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 187,098,125 | 187,164,191 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7463001 | copy number loss | 17487 | Oligo aCGH | Probe signal intensity | nssv7459311 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7463001 | Remapped | Perfect | NC_000002.12:g.(?_ 186525153)_(186591 219_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 186,525,153 | 186,591,219 |
| nssv7463001 | Remapped | Perfect | NC_000002.11:g.(?_ 187389880)_(187455 946_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 187,389,880 | 187,455,946 |
| nssv7463001 | Submitted genomic | NC_000002.10:g.(?_ 187098125)_(187164 191_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 187,098,125 | 187,164,191 |