nsv1048752
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,599
- Publication(s):Coe et al. 2014
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: 325 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 325 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1048752 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 104,601,540 | 104,615,138 |
| nsv1048752 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 107,363,821 | 107,377,419 |
| nsv1048752 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 106,403,642 | 106,417,240 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3697637 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3697637 | Remapped | Perfect | NC_000009.12:g.(?_ 104601540)_(104615 138_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 104,601,540 | 104,615,138 |
| nssv3697637 | Remapped | Perfect | NC_000009.11:g.(?_ 107363821)_(107377 419_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 107,363,821 | 107,377,419 |
| nssv3697637 | Submitted genomic | NC_000009.10:g.(?_ 106403642)_(106417 240_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 106,403,642 | 106,417,240 |