nsv821626
- 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:116,667
- 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: 714 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 717 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 27 SVs from 10 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821626 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 87,459,398 | 87,576,064 |
| nsv821626 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 87,758,917 | 87,875,583 |
| nsv821626 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 87,598,179 | 87,714,845 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421291 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421291 | Remapped | Perfect | NC_000002.12:g.(?_ 87459398)_(8757606 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 87,459,398 | 87,576,064 |
| nssv1421291 | Remapped | Perfect | NC_000002.11:g.(?_ 87758917)_(8787558 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 87,758,917 | 87,875,583 |
| nssv1421291 | Submitted genomic | NC_000002.9:g.(?_8 7598179)_(87714845 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 87,598,179 | 87,714,845 |