nsv1189915
- 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:529,615
- 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: 1427 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 1427 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 380 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189915 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 168,329,188 | 168,858,802 |
| nsv1189915 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 167,756,193 | 168,285,807 |
| nsv1189915 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 167,688,771 | 168,218,385 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7461229 | copy number gain | 22437 | Oligo aCGH | Probe signal intensity | nssv7472459, nssv7473432, nssv7474956 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7461229 | Remapped | Perfect | NC_000005.10:g.(?_ 168329188)_(168858 802_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 168,329,188 | 168,858,802 |
| nssv7461229 | Remapped | Perfect | NC_000005.9:g.(?_1 67756193)_(1682858 07_?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 167,756,193 | 168,285,807 |
| nssv7461229 | Submitted genomic | NC_000005.8:g.(?_1 67688771)_(1682183 85_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 167,688,771 | 168,218,385 |