nsv428345
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:163,377
- Publication(s):Perry et al. 2008
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: 413 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428345 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 52,270,800 | 52,434,176 |
| nsv428345 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 50,348,160 | 50,511,536 |
| nsv428345 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 47,703,159 | 47,866,535 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv453511 | copy number loss | HGDP00986 | BAC aCGH | Probe signal intensity | 82 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv453511 | Remapped | Perfect | NC_000017.11:g.(?_ 52270800)_(5243417 6_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,270,800 | 52,434,176 |
| nssv453511 | Remapped | Perfect | NC_000017.10:g.(?_ 50348160)_(5051153 6_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 50,348,160 | 50,511,536 |
| nssv453511 | Submitted genomic | NC_000017.9:g.(?_4 7703159)_(47866535 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 47,703,159 | 47,866,535 |