nsv3903658
- 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:5,382,677
- Description:GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 AND Mitogen-activated protein kinase kinase 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: 14641 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 14682 SVs from 115 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3903658 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 26,935,981 | 32,318,657 |
| nsv3903658 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 25,248,166 | 30,645,676 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151949 | copy number loss | Multiple | Multiple | Mitogen-activated protein kinase kinase inhibitor response | drug response | ClinVar | RCV000626439.1, VCV000523166.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151949 | Remapped | Good | NC_000017.11:g.269 35981_32318657del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 26,935,981 | 32,318,657 |
| nssv15151949 | Submitted genomic | NC_000017.10:g.252 48166_30645676del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 25,248,166 | 30,645,676 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151949 | GRCh37: NC_000017.10:g.25248166_30645676del | copy number loss | somatic | Mitogen-activated protein kinase kinase inhibitor response | drug response | ClinVar | RCV000626439.1, VCV000523166.1 | 1 |