nsv469739
- Organism: Homo sapiens
- Study:nstd29 (Locke 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:183,671
- Publication(s):Locke 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: 643 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 643 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469739 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 33,585,629 | 33,769,299 |
| nsv469739 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 33,738,564 | 33,922,234 |
| nsv469739 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000012.8 | Chr12 | 33,629,831 | 33,813,501 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1676328 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1676328 | Remapped | Perfect | NC_000012.12:g.(?_ 33585629)_(3376929 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 33,585,629 | 33,769,299 |
| nssv1676328 | Remapped | Perfect | NC_000012.11:g.(?_ 33738564)_(3392223 4_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 33,738,564 | 33,922,234 |
| nssv1676328 | Submitted genomic | NC_000012.8:g.(?_3 3629831)_(33813501 _?)dup | NCBI34 (hg16) | NC_000012.8 | Chr12 | 33,629,831 | 33,813,501 |