nsv1193632
- 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:7,329,041
- 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: 17988 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 17991 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 4221 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1193632 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 30,488,200 | 37,817,240 |
| nsv1193632 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 30,961,047 | 38,282,912 |
| nsv1193632 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 30,733,634 | 38,055,499 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7469019 | copy number gain | 24103 | Oligo aCGH | Probe signal intensity | nssv7470102 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7469019 | Remapped | Good | NC_000001.11:g.(?_ 30488200)_(3781724 0_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 30,488,200 | 37,817,240 |
| nssv7469019 | Remapped | Perfect | NC_000001.10:g.(?_ 30961047)_(3828291 2_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 30,961,047 | 38,282,912 |
| nssv7469019 | Submitted genomic | NC_000001.9:g.(?_3 0733634)_(38055499 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 30,733,634 | 38,055,499 |