nsv7148072
- 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:1,252,869
- Description:GRCh37/hg19 3q29(chr3:193343827-194599635)x1 AND Autosomal dominant optic atrophy classic form
- Publication(s):Delettre-Cribaillet et al. 2007
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3839 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3816 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148072 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 193,626,038 | 194,878,906 |
| nsv7148072 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 193,343,827 | 194,599,635 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842021 | copy number loss | Multiple | Multiple | Autosomal dominant optic atrophy classic form; Autosomal dominant optic atrophy, classic form; OPTIC ATROPHY 1; OPA1; Optic Atrophy Type 1 | Likely pathogenic | ClinVar | RCV003329547.1, VCV002580342.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842021 | Remapped | Good | NC_000003.12:g.(?_ 193626038)_(194878 906_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 193,626,038 | 194,878,906 |
| nssv18842021 | Submitted genomic | NC_000003.11:g.(?_ 193343827)_(194599 635_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 193,343,827 | 194,599,635 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842021 | GRCh37: NC_000003.11:g.(?_193343827)_(194599635_?)del | copy number loss | unknown | Autosomal dominant optic atrophy classic form; Autosomal dominant optic atrophy, classic form; OPTIC ATROPHY 1; OPA1; Optic Atrophy Type 1 | Likely pathogenic | ClinVar | RCV003329547.1, VCV002580342.1 | 1 |