nsv2740531
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,944,291
- Publication(s):Leppa et al. 2016
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: 200378 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 200361 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 56253 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2740531 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 50,879,648 | 129,823,938 |
| nsv2740531 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 51,273,431 | 130,308,483 |
| nsv2740531 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 49,559,698 | 128,874,436 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13597046 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13597046 | Remapped | Good | NC_000012.12:g.(?_ 50879648)_(1298239 38_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 50,879,648 | 129,823,938 |
| nssv13597046 | Remapped | Good | NC_000012.11:g.(?_ 51273431)_(1303084 83_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 51,273,431 | 130,308,483 |
| nssv13597046 | Submitted genomic | NC_000012.10:g.(?_ 49559698)_(1288744 36_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 49,559,698 | 128,874,436 |