nsv3871292
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:341,009
- Description:Single allele AND Optic nerve hypoplasia
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 792 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 792 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3871292 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 23,279,750 | 23,620,758 |
| nsv3871292 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 23,432,684 | 23,773,692 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131101 | deletion | Multiple | Multiple | Optic nerve hypoplasia; Optic nerve hypoplasia | Pathogenic | ClinVar | RCV000677251.3, VCV000496727.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15131101 | Submitted genomic | NC_000012.12:g.232 79750_23620758del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 23,279,750 | 23,620,758 |
| nssv15131101 | Submitted genomic | NC_000012.11:g.234 32684_23773692del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 23,432,684 | 23,773,692 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131101 | GRCh37: NC_000012.11:g.23432684_23773692del, GRCh38: NC_000012.12:g.23279750_23620758del | deletion | unknown | Optic nerve hypoplasia; Optic nerve hypoplasia | Pathogenic | ClinVar | RCV000677251.3, VCV000496727.3 | 1 |