nsv870290
- 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:146,275
- 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: 633 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 633 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv870290 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 124,942,695 | 124,949,937 | 125,078,037 | 125,088,969 |
| nsv870290 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 124,076,544 | 124,083,786 | 124,211,886 | 124,222,818 |
| nsv870290 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 123,904,225 | 123,911,467 | 124,039,567 | 124,050,499 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1498574 | copy number loss | OAT_15 | Oligo aCGH | Probe signal intensity | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1498574 | Remapped | Perfect | NC_000023.11:g.(12 4942695_124949937) _(125078037_125088 969)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 124,942,695 | 124,949,937 | 125,078,037 | 125,088,969 |
| nssv1498574 | Remapped | Perfect | NC_000023.10:g.(12 4076544_124083786) _(124211886_124222 818)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 124,076,544 | 124,083,786 | 124,211,886 | 124,222,818 |
| nssv1498574 | Submitted genomic | NC_000023.9:g.(123 904225_123911467)_ (124039567_1240504 99)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 123,904,225 | 123,911,467 | 124,039,567 | 124,050,499 |