nsv482604
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:207,082
- Publication(s):Sharp et al. 2006
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: 885 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 885 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482604 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 21,279,803 | 21,486,884 |
| nsv482604 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 21,137,314 | 21,344,395 |
| nsv482604 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000008.8 | Chr8 | 21,147,587 | 21,354,668 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3008092 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3008092 | Remapped | Perfect | NC_000008.11:g.(?_ 21279803)_(2148688 4_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 21,279,803 | 21,486,884 |
| nssv3008092 | Remapped | Perfect | NC_000008.10:g.(?_ 21137314)_(2134439 5_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 21,137,314 | 21,344,395 |
| nssv3008092 | Submitted genomic | NC_000008.8:g.(?_2 1147587)_(21354668 _?)dup | NCBI34 (hg16) | NC_000008.8 | Chr8 | 21,147,587 | 21,354,668 |