nsv821631
- 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:130,064
- 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: 333 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 333 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821631 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 210,664,194 | 210,794,257 |
| nsv821631 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 211,528,918 | 211,658,981 |
| nsv821631 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 211,354,424 | 211,484,487 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421354 | copy number loss | ROMA | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421354 | Remapped | Perfect | NC_000002.12:g.(?_ 210664194)_(210794 257_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 210,664,194 | 210,794,257 |
| nssv1421354 | Remapped | Perfect | NC_000002.11:g.(?_ 211528918)_(211658 981_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 211,528,918 | 211,658,981 |
| nssv1421354 | Submitted genomic | NC_000002.9:g.(?_2 11354424)_(2114844 87_?)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 211,354,424 | 211,484,487 |