nsv482112
- Organism: Homo sapiens
- Study:nstd39 (Schuster et al. 2010)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:37,113
- Description:RASA4
- Publication(s):Schuster et al. 2010
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: 526 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 508 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv482112 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 102,579,646 | - | 102,616,758 |
| nsv482112 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | - | 102,229,277 | 102,257,205 |
| nsv482112 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 101,813,883 | - | 101,851,140 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558473 | copy number gain | KB1 | Sequencing | Read depth | 11 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv558473 | Remapped | Good | NC_000007.14:g.(10 2579646_?)_(?_1026 16758)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 102,579,646 | - | 102,616,758 |
| nssv558473 | Remapped | Pass | NC_000007.13:g.(?_ 102229277)_(?_1022 57205)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | - | 102,229,277 | 102,257,205 |
| nssv558473 | Submitted genomic | NC_000007.11:g.(10 1813883_?)_(?_1018 51140)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 101,813,883 | - | 101,851,140 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558473 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |