nsv3891247
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5,760,810
- Description:GRCh37/hg19 9q34.13-34.3(chr9:135377559-141213431)x1 AND mTOR Inhibitor response
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 26141 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 25912 SVs from 129 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3891247 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 132,502,172 | 138,262,981 |
| nsv3891247 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 135,377,559 | 141,213,431 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151604 | copy number loss | Multiple | Multiple | mTOR Inhibitor response | drug response | ClinVar | RCV000626442.1, VCV000523169.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151604 | Remapped | Good | NC_000009.12:g.132 502172_138262981de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 132,502,172 | 138,262,981 |
| nssv15151604 | Submitted genomic | NC_000009.11:g.135 377559_141213431de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 135,377,559 | 141,213,431 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151604 | GRCh37: NC_000009.11:g.135377559_141213431del | copy number loss | somatic | mTOR Inhibitor response | drug response | ClinVar | RCV000626442.1, VCV000523169.1 | 1 |