nsv6315486
- 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:403,122
- Description:GRCh37/hg19 9p13.2(chr9:37313084-37716205)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: 1111 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1117 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315486 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 37,313,087 | 37,716,208 |
| nsv6315486 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 37,313,084 | 37,716,205 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977115 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV002285072.1, VCV001706517.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977115 | Remapped | Perfect | NC_000009.12:g.(37 313087_?)_(?_37716 208)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,313,087 | 37,716,208 |
| nssv17977115 | Submitted genomic | NC_000009.11:g.(37 313084_?)_(?_37716 205)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 37,313,084 | 37,716,205 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17977115 | GRCh37: NC_000009.11:g.(37313084_?)_(?_37716205)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV002285072.1, VCV001706517.1 | 3 |