nsv1193011
- 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:1,225,812
- 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: 3649 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 3649 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 857 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1193011 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 44,887,031 | 46,112,842 |
| nsv1193011 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 44,887,133 | 46,112,944 |
| nsv1193011 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 44,922,890 | 46,148,701 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7473388 | copy number loss | 40112 | Oligo aCGH | Probe signal intensity | nssv7466354, nssv7474973 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7473388 | Remapped | Perfect | NC_000005.10:g.(?_ 44887031)_(4611284 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 44,887,031 | 46,112,842 |
| nssv7473388 | Remapped | Perfect | NC_000005.9:g.(?_4 4887133)_(46112944 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 44,887,133 | 46,112,944 |
| nssv7473388 | Submitted genomic | NC_000005.8:g.(?_4 4922890)_(46148701 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 44,922,890 | 46,148,701 |