nsv491514
- 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:3,009,195
- Description:15q24 recurrent region (A-D) (includes SIN3A)
- Publication(s):El-Hattab et al. 2009, Mefford et al. 2011, Riggs et al. 2011, Van Esch et al. 2009
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5995 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 5996 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv491514 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,671,374 | 75,680,568 |
| nsv491514 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,963,715 | 75,972,909 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv1184539 | copy number loss | Curated | Curated | CHROMOSOME 15q25 DELETION SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1184539 | Remapped | Perfect | NC_000015.10:g.(?_ 72671374)_(7568056 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,671,374 | 75,680,568 |
| nssv1184539 | Submitted genomic | NC_000015.9:g.(?_7 2963715)_(75972909 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,963,715 | 75,972,909 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv1184539 | GRCh37: NC_000015.9:g.(?_72963715)_(75972909_?)del | copy number loss | CHROMOSOME 15q25 DELETION SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |