nsv1062380
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:126,771
- Publication(s):Coe et al. 2014
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: 985 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 985 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 404 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1062380 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 69,489,536 | 69,616,306 |
| nsv1062380 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 67,156,772 | 67,283,542 |
| nsv1062380 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 65,307,752 | 65,434,522 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3467481 | copy number loss | 9879613 | Oligo aCGH | Probe signal intensity | nssv3457124, nssv3457374 |
| nssv3472851 | copy number gain | 9885676 | Oligo aCGH | Probe signal intensity | nssv3443729, nssv3459413 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3467481 | Remapped | Perfect | NC_000018.10:g.(?_ 69489536)_(6961630 6_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,489,536 | 69,616,306 |
| nssv3472851 | Remapped | Perfect | NC_000018.10:g.(?_ 69489536)_(6961630 6_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 69,489,536 | 69,616,306 |
| nssv3467481 | Remapped | Perfect | NC_000018.9:g.(?_6 7156772)_(67283542 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,156,772 | 67,283,542 |
| nssv3472851 | Remapped | Perfect | NC_000018.9:g.(?_6 7156772)_(67283542 _?)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 67,156,772 | 67,283,542 |
| nssv3467481 | Submitted genomic | NC_000018.8:g.(?_6 5307752)_(65434522 _?)del | NCBI36 (hg18) | NC_000018.8 | Chr18 | 65,307,752 | 65,434,522 | ||
| nssv3472851 | Submitted genomic | NC_000018.8:g.(?_6 5307752)_(65434522 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 65,307,752 | 65,434,522 |