nsv1031228
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:223,291
- 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: 1043 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1043 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 373 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1031228 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 178,166,321 | 178,389,611 |
| nsv1031228 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 179,087,475 | 179,310,765 |
| nsv1031228 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 179,324,469 | 179,547,759 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3448113 | copy number loss | 9883422 | Oligo aCGH | Probe signal intensity | |
| nssv3458928 | copy number loss | 9870038 | Oligo aCGH | Probe signal intensity | nssv3442815, nssv3466952, nssv3472747 |
| nssv3459221 | copy number gain | 9886510 | Oligo aCGH | Probe signal intensity | nssv3456593 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3448113 | Remapped | Perfect | NC_000004.12:g.(?_ 178166321)_(178389 611_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 178,166,321 | 178,389,611 |
| nssv3458928 | Remapped | Perfect | NC_000004.12:g.(?_ 178166321)_(178389 611_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 178,166,321 | 178,389,611 |
| nssv3459221 | Remapped | Perfect | NC_000004.12:g.(?_ 178166321)_(178389 611_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 178,166,321 | 178,389,611 |
| nssv3448113 | Remapped | Perfect | NC_000004.11:g.(?_ 179087475)_(179310 765_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 179,087,475 | 179,310,765 |
| nssv3458928 | Remapped | Perfect | NC_000004.11:g.(?_ 179087475)_(179310 765_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 179,087,475 | 179,310,765 |
| nssv3459221 | Remapped | Perfect | NC_000004.11:g.(?_ 179087475)_(179310 765_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 179,087,475 | 179,310,765 |
| nssv3448113 | Submitted genomic | NC_000004.10:g.(?_ 179324469)_(179547 759_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 179,324,469 | 179,547,759 | ||
| nssv3458928 | Submitted genomic | NC_000004.10:g.(?_ 179324469)_(179547 759_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 179,324,469 | 179,547,759 | ||
| nssv3459221 | Submitted genomic | NC_000004.10:g.(?_ 179324469)_(179547 759_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 179,324,469 | 179,547,759 |