nsv1196604
- 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:317,774
- 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: 2322 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2322 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 584 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1196604 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 1,281,180 | 1,598,953 |
| nsv1196604 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 1,184,474 | 1,502,247 |
| nsv1196604 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 1,131,224 | 1,448,997 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7467731 | copy number gain | 21112 | Oligo aCGH | Probe signal intensity | nssv7460244 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7467731 | Remapped | Perfect | NC_000017.11:g.(?_ 1281180)_(1598953_ ?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 1,281,180 | 1,598,953 |
| nssv7467731 | Remapped | Perfect | NC_000017.10:g.(?_ 1184474)_(1502247_ ?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 1,184,474 | 1,502,247 |
| nssv7467731 | Submitted genomic | NC_000017.9:g.(?_1 131224)_(1448997_? )dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 1,131,224 | 1,448,997 |