nsv1189019
- 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:1,399,955
- 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: 7167 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 7165 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 1916 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189019 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 2,627,414 | 4,027,368 |
| nsv1189019 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 2,558,853 | 4,087,428 |
| nsv1189019 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 2,548,713 | 3,987,288 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7459853 | copy number loss | 23 | Oligo aCGH | Probe signal intensity | nssv7459825, nssv7463569 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7459853 | Remapped | Good | NC_000001.11:g.(?_ 2627414)_(4027368_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 2,627,414 | 4,027,368 |
| nssv7459853 | Remapped | Pass | NC_000001.10:g.(?_ 2558853)_(4087428_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 2,558,853 | 4,087,428 |
| nssv7459853 | Submitted genomic | NC_000001.9:g.(?_2 548713)_(3987288_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 2,548,713 | 3,987,288 |