nsv870231
- Organism: Homo sapiens
- Study:nstd53 (Tuttelmann et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:54,706
- Publication(s):Tüttelmann et al. 2011
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: 375 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 375 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 124 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 | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv870231 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 112,856,682 | 112,861,730 | 112,904,339 | 112,911,387 |
| nsv870231 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 112,192,379 | 112,197,427 | 112,240,036 | 112,247,084 |
| nsv870231 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 112,220,278 | 112,225,326 | 112,267,935 | 112,274,983 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1498518 | copy number loss | OAT_17 | Oligo aCGH | Probe signal intensity | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1498518 | Remapped | Perfect | NC_000005.10:g.(11 2856682_112861730) _(112904339_112911 387)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 112,856,682 | 112,861,730 | 112,904,339 | 112,911,387 |
| nssv1498518 | Remapped | Perfect | NC_000005.9:g.(112 192379_112197427)_ (112240036_1122470 84)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 112,192,379 | 112,197,427 | 112,240,036 | 112,247,084 |
| nssv1498518 | Submitted genomic | NC_000005.8:g.(112 220278_112225326)_ (112267935_1122749 83)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 112,220,278 | 112,225,326 | 112,267,935 | 112,274,983 |