nsv1001225
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:594,668
- 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: 1201 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 1205 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 304 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1001225 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 163,749,218 | 164,343,885 |
| nsv1001225 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 163,718,455 | 164,313,122 |
| nsv1001225 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 161,985,079 | 162,579,746 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv3445329 | copy number loss | 9889612 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3445329 | Remapped | Perfect | NC_000001.11:g.(?_ 163749218)_(164343 885_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 163,749,218 | 164,343,885 |
| nssv3445329 | Remapped | Perfect | NC_000001.10:g.(?_ 163718455)_(164313 122_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 163,718,455 | 164,313,122 |
| nssv3445329 | Submitted genomic | NC_000001.9:g.(?_1 61985079)_(1625797 46_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 161,985,079 | 162,579,746 |