nsv7148244
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:597,394
- Description:GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1 AND Diamond-Blackfan anemia 4
- Publication(s):Clinton 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: 1529 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1684 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 | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148244 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 82,130,136 | 82,727,529 | ||
| nsv7148244 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 82,422,477 | 83,396,281 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841980 | copy number loss | Multiple | Multiple | Blackfan-Diamond anemia; DIAMOND-BLACKFAN ANEMIA 4; DBA4; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 4 | Pathogenic | ClinVar | RCV003327650.1, VCV002579211.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841980 | Submitted genomic | NC_000015.10:g.821 30136_82727529del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 82,130,136 | 82,727,529 | ||
| nssv18841980 | Remapped | Pass | NC_000015.9:g.8242 2477_83396281del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 82,422,477 | 83,396,281 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841980 | GRCh38: NC_000015.10:g.82130136_82727529del | copy number loss | unknown | Blackfan-Diamond anemia; DIAMOND-BLACKFAN ANEMIA 4; DBA4; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 4 | Pathogenic | ClinVar | RCV003327650.1, VCV002579211.1 | 1 |