nsv997223
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:60,398
- Description:LMNB1
- Publication(s):Brussino et al. 2009, Riggs et al. 2011, Schuster et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 246 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997223 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 126,776,623 | 126,837,020 |
| nsv997223 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 126,112,315 | 126,172,712 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442547 | copy number gain | Curated | Curated | LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442547 | Remapped | Perfect | NC_000005.10:g.(?_ 126776623)_(126837 020_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 126,776,623 | 126,837,020 |
| nssv3442547 | Submitted genomic | NC_000005.9:g.(?_1 26112315)_(1261727 12_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 126,112,315 | 126,172,712 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442547 | GRCh37: NC_000005.9:g.(?_126112315)_(126172712_?)dup | copy number gain | LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT; ADLD | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |