nsv4683247
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:16,401
- Description:
NG_000006.1:g.24664_41064del16401 AND alpha Thalassemia - Publication(s): et al. 1996, Origa et al. 2005, Traeger-Synodinos et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 429 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 429 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4683247 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 163,801 | 180,201 |
| nsv4683247 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 213,800 | 230,200 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214851 | deletion | Multiple | Multiple | ALPHA-THALASSEMIA; Alpha-Thalassemia; Alpha-thalassemia; alpha Thalassemia | Pathogenic | ClinVar | RCV001078233.1, VCV000038633.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16214851 | Submitted genomic | NC_000016.10:g.163 801_180201del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 163,801 | 180,201 |
| nssv16214851 | Submitted genomic | NC_000016.9:g.2138 00_230200del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 213,800 | 230,200 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214851 | GRCh37: NC_000016.9:g.213800_230200del, GRCh38: NC_000016.10:g.163801_180201del | deletion | germline | ALPHA-THALASSEMIA; Alpha-Thalassemia; Alpha-thalassemia; alpha Thalassemia | Pathogenic | ClinVar | RCV001078233.1, VCV000038633.4 |