nsv3909122
- 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:5,344,505
- Description:GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 13603 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 13617 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3909122 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 115,344,715 | 120,689,219 |
| nsv3909122 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 115,215,434 | 120,559,928 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15140058 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240308.1, VCV000253520.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15140058 | Remapped | Perfect | NC_000011.10:g.(?_ 115344715)_(120689 219_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 115,344,715 | 120,689,219 |
| nssv15140058 | Submitted genomic | NC_000011.9:g.(?_1 15215434)_(1205599 28_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 115,215,434 | 120,559,928 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15140058 | GRCh37: NC_000011.9:g.(?_115215434)_(120559928_?)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV000240308.1, VCV000253520.1 | 3 |