nsv821696
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:230,350
- Publication(s):Sebat et al. 2004
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: 2433 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 2433 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 299 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821696 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 25,330,093 | 25,560,442 |
| nsv821696 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 25,726,060 | 25,956,409 |
| nsv821696 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 24,050,614 | 24,280,963 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421334 | copy number gain | ROMA | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421334 | Remapped | Perfect | NC_000022.11:g.(?_ 25330093)_(2556044 2_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,330,093 | 25,560,442 |
| nssv1421334 | Remapped | Perfect | NC_000022.10:g.(?_ 25726060)_(2595640 9_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 25,726,060 | 25,956,409 |
| nssv1421334 | Submitted genomic | NC_000022.8:g.(?_2 4050614)_(24280963 _?)dup | NCBI35 (hg17) | NC_000022.8 | Chr22 | 24,050,614 | 24,280,963 |