nsv821688
- 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:21,207
- 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: 301 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 299 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821688 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 47,539,030 | 47,560,236 |
| nsv821688 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 45,616,396 | 45,637,602 |
| nsv821688 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 42,971,395 | 42,992,601 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421326 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421326 | Remapped | Perfect | NC_000017.11:g.(?_ 47539030)_(4756023 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 47,539,030 | 47,560,236 |
| nssv1421326 | Remapped | Perfect | NC_000017.10:g.(?_ 45616396)_(4563760 2_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 45,616,396 | 45,637,602 |
| nssv1421326 | Submitted genomic | NC_000017.9:g.(?_4 2971395)_(42992601 _?)dup | NCBI35 (hg17) | NC_000017.9 | Chr17 | 42,971,395 | 42,992,601 |