nsv1196374
- 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:269,948
- 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: 1287 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1287 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 339 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1196374 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 102,524,956 | 102,794,903 |
| nsv1196374 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 102,991,293 | 103,261,240 |
| nsv1196374 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 102,061,046 | 102,330,993 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7467248 | copy number gain | 13386 | Oligo aCGH | Probe signal intensity | nssv7461247 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7467248 | Remapped | Perfect | NC_000014.9:g.(?_1 02524956)_(1027949 03_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 102,524,956 | 102,794,903 |
| nssv7467248 | Remapped | Perfect | NC_000014.8:g.(?_1 02991293)_(1032612 40_?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 102,991,293 | 103,261,240 |
| nssv7467248 | Submitted genomic | NC_000014.7:g.(?_1 02061046)_(1023309 93_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 102,061,046 | 102,330,993 |