nsv997068
- 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:173,270
- Description:6q24 region (includes PLAGL1)
- Publication(s):Cavé et al. 2000, Riggs et al. 2011, Temple et al. 1996, Temple et al. 2000
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 354 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 354 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997068 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 143,922,155 | 144,095,424 |
| nsv997068 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 144,243,292 | 144,416,561 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442695 | copy number gain | Curated | Curated | DIABETES MELLITUS, TRANSIENT NEONATAL, 1 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442695 | Remapped | Perfect | NC_000006.12:g.(?_ 143922155)_(144095 424_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 143,922,155 | 144,095,424 |
| nssv3442695 | Submitted genomic | NC_000006.11:g.(?_ 144243292)_(144416 561_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 144,243,292 | 144,416,561 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442695 | GRCh37: NC_000006.11:g.(?_144243292)_(144416561_?)dup | copy number gain | DIABETES MELLITUS, TRANSIENT NEONATAL, 1 | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |