nsv4768374
- 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:1,011,527
- Description:GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1 AND Infantile epilepsy syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3619 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3621 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768374 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 127,650,159 | 128,661,685 |
| nsv4768374 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,412,438 | 131,423,964 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16296990 | copy number loss | Multiple | Multiple | Infantile epilepsy syndrome | Pathogenic | ClinVar | RCV001265154.1, VCV000984763.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16296990 | Remapped | Perfect | NC_000009.12:g.(?_ 127650159)_(128661 685_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 127,650,159 | 128,661,685 |
| nssv16296990 | Submitted genomic | NC_000009.11:g.(?_ 130412438)_(131423 964_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,412,438 | 131,423,964 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16296990 | GRCh37: NC_000009.11:g.(?_130412438)_(131423964_?)del | copy number loss | unknown | Infantile epilepsy syndrome | Pathogenic | ClinVar | RCV001265154.1, VCV000984763.1 | 1 |