nsv5673256
- 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:9,751
- Description:NC_000001.10:g.(?_93297672)_(93307422_?)del AND Congenital hypoplastic anemia
- 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: 115 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673256 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 92,832,115 | 92,841,865 |
| nsv5673256 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 93,297,672 | 93,307,422 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173014 | deletion | Multiple | Multiple | Anemia, Diamond-Blackfan; Blackfan-Diamond anemia; Congenital hypoplastic anemia; DIAMOND-BLACKFAN ANEMIA 1; DBA1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia; Diamond-Blackfan anemia | Pathogenic | ClinVar | RCV001386821.5, VCV001073746.8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173014 | Remapped | Perfect | NC_000001.11:g.(?_ 92832115)_(9284186 5_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 92,832,115 | 92,841,865 |
| nssv17173014 | Submitted genomic | NC_000001.10:g.(?_ 93297672)_(9330742 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 93,297,672 | 93,307,422 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17173014 | GRCh37: NC_000001.10:g.(?_93297672)_(93307422_?)del | deletion | germline | Anemia, Diamond-Blackfan; Blackfan-Diamond anemia; Congenital hypoplastic anemia; DIAMOND-BLACKFAN ANEMIA 1; DBA1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia; Diamond-Blackfan anemia | Pathogenic | ClinVar | RCV001386821.5, VCV001073746.8 |