nsv1192016
- 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:528,405
- 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: 1957 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1957 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 619 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1192016 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 14,892,998 | 15,421,402 |
| nsv1192016 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 14,750,507 | 15,278,911 |
| nsv1192016 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 14,794,878 | 15,323,282 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv7472551 | copy number gain | 42307 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7472551 | Remapped | Perfect | NC_000008.11:g.(?_ 14892998)_(1542140 2_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 14,892,998 | 15,421,402 |
| nssv7472551 | Remapped | Perfect | NC_000008.10:g.(?_ 14750507)_(1527891 1_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 14,750,507 | 15,278,911 |
| nssv7472551 | Submitted genomic | NC_000008.9:g.(?_1 4794878)_(15323282 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 14,794,878 | 15,323,282 |