nsv428277
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:177,011
- Publication(s):Perry et al. 2008
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: 998 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 998 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 433 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428277 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 34,241,363 | 34,418,373 |
| nsv428277 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 34,394,298 | 34,571,308 |
| nsv428277 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 34,285,565 | 34,462,575 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv452283 | copy number gain | HGDP01086 | BAC aCGH | Probe signal intensity | 52 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv452283 | Remapped | Perfect | NC_000012.12:g.(?_ 34241363)_(3441837 3_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,241,363 | 34,418,373 |
| nssv452283 | Remapped | Perfect | NC_000012.11:g.(?_ 34394298)_(3457130 8_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,394,298 | 34,571,308 |
| nssv452283 | Submitted genomic | NC_000012.10:g.(?_ 34285565)_(3446257 5_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 34,285,565 | 34,462,575 |