nsv1196088
- 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:143,135
- 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: 479 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 479 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 188 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1196088 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 149,423,930 | 149,567,064 |
| nsv1196088 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 149,121,021 | 149,264,155 |
| nsv1196088 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 148,751,954 | 148,895,088 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7466989 | copy number gain | 23229 | Oligo aCGH | Probe signal intensity | nssv7459902, nssv7467028 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7466989 | Remapped | Perfect | NC_000007.14:g.(?_ 149423930)_(149567 064_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 149,423,930 | 149,567,064 |
| nssv7466989 | Remapped | Perfect | NC_000007.13:g.(?_ 149121021)_(149264 155_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 149,121,021 | 149,264,155 |
| nssv7466989 | Submitted genomic | NC_000007.12:g.(?_ 148751954)_(148895 088_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 148,751,954 | 148,895,088 |