nsv820257
- Organism: Homo sapiens
- Study:nstd43 (Kim et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,194
- Publication(s):Kim et al. 2009
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: 333 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 333 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv820257 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 58,723,250 | 58,747,443 |
| nsv820257 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 56,390,482 | 56,414,675 |
| nsv820257 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 54,541,462 | 54,565,655 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418696 | copy number loss | SAMN00002681 | Oligo aCGH | Probe signal intensity | 1,333 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418696 | Remapped | Perfect | NC_000018.10:g.(?_ 58723250)_(5874744 3_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 58,723,250 | 58,747,443 |
| nssv1418696 | Remapped | Perfect | NC_000018.9:g.(?_5 6390482)_(56414675 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 56,390,482 | 56,414,675 |
| nssv1418696 | Submitted genomic | NC_000018.8:g.(?_5 4541462)_(54565655 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 54,541,462 | 54,565,655 |