nsv933490
- Organism: Homo sapiens
- Study:nstd80 (Boone et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:285,208
- Publication(s):Boone et al. 2013
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: 3001 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 2382 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 566 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv933490 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 648,668 | 933,875 |
| nsv933490 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 609,403 | 803,877 |
| nsv933490 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 529,403 | 814,610 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv1615714 | deletion | 2024 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1615714 | Remapped | Good | NC_000023.11:g.(64 6920_646920)_(2853 990_2853990)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 646,920 | 646,920 | 2,853,990 | 2,853,990 |
| nssv1615714 | Remapped | Good | NC_000023.10:g.(60 7655_607655)_(2772 031_2772031)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 607,655 | 607,655 | 2,772,031 | 2,772,031 |
| nssv1615714 | Submitted genomic | NC_000023.9:g.(527 655_529403)_(81461 0_2782031)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 527,655 | 529,403 | 814,610 | 2,782,031 |