nsv482075
- 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:8,146
- Description:GSTT1
- 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: 662 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 1001 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 16 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv482075 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 270,314 | 278,459 |
| nsv482075 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 24,376,139 | 24,384,284 |
| nsv482075 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000022.8 | Chr22 | 22,700,693 | 22,708,838 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv558436 | copy number loss | KB1 | Sequencing | Read depth | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv558436 | Remapped | Perfect | NT_187633.1:g.(270 314_?)_(?_278459)d el | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 270,314 | 278,459 |
| nssv558436 | Remapped | Perfect | NC_000022.10:g.(24 376139_?)_(?_24384 284)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 24,376,139 | 24,384,284 |
| nssv558436 | Submitted genomic | NC_000022.8:g.(227 00693_?)_(?_227088 38)del | NCBI35 (hg17) | NC_000022.8 | Chr22 | 22,700,693 | 22,708,838 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558436 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |