nsv821632
- 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:41,804
- 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: 264 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821632 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 115,246,502 | 115,288,305 |
| nsv821632 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 114,965,349 | 115,007,152 |
| nsv821632 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000003.9 | Chr3 | 116,448,039 | 116,489,842 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421355 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421355 | Remapped | Perfect | NC_000003.12:g.(?_ 115246502)_(115288 305_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 115,246,502 | 115,288,305 |
| nssv1421355 | Remapped | Perfect | NC_000003.11:g.(?_ 114965349)_(115007 152_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 114,965,349 | 115,007,152 |
| nssv1421355 | Submitted genomic | NC_000003.9:g.(?_1 16448039)_(1164898 42_?)dup | NCBI35 (hg17) | NC_000003.9 | Chr3 | 116,448,039 | 116,489,842 |