nsv821658
- 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:45,547
- 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: 320 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 320 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821658 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 89,187,306 | 89,232,852 |
| nsv821658 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 90,199,535 | 90,245,081 |
| nsv821658 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 90,268,651 | 90,314,197 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421214 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421214 | Remapped | Perfect | NC_000008.11:g.(?_ 89187306)_(8923285 2_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 89,187,306 | 89,232,852 |
| nssv1421214 | Remapped | Perfect | NC_000008.10:g.(?_ 90199535)_(9024508 1_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 90,199,535 | 90,245,081 |
| nssv1421214 | Submitted genomic | NC_000008.9:g.(?_9 0268651)_(90314197 _?)dup | NCBI35 (hg17) | NC_000008.9 | Chr8 | 90,268,651 | 90,314,197 |