nsv869614
- 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:174,737
- 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: 707 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 707 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 240 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv869614 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 126,033,671 | 126,055,750 | 126,192,662 | 126,208,407 |
| nsv869614 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 125,369,364 | 125,391,443 | 125,528,355 | 125,544,100 |
| nsv869614 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 125,397,263 | 125,419,342 | 125,556,254 | 125,571,999 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1496334 | copy number loss | OAT_12 | Oligo aCGH | Probe signal intensity | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1496334 | Remapped | Perfect | NC_000005.10:g.(12 6033671_126055750) _(126192662_126208 407)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 126,033,671 | 126,055,750 | 126,192,662 | 126,208,407 |
| nssv1496334 | Remapped | Perfect | NC_000005.9:g.(125 369364_125391443)_ (125528355_1255441 00)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 125,369,364 | 125,391,443 | 125,528,355 | 125,544,100 |
| nssv1496334 | Submitted genomic | NC_000005.8:g.(125 397263_125419342)_ (125556254_1255719 99)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 125,397,263 | 125,419,342 | 125,556,254 | 125,571,999 |