nsv6112798
- 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:843
- Description:GRCh37/hg19 16p13.3(chr16:176680-177522)x1 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: 170 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6112798 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 126,681 | 127,523 |
| nsv6112798 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 176,680 | 177,522 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17649950 | copy number loss | Multiple | Multiple | ALPHA-THALASSEMIA; Alpha-Thalassemia; Alpha-thalassemia; alpha Thalassemia | not provided | ClinVar | RCV001535752.1, VCV001177507.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17649950 | Remapped | Perfect | NC_000016.10:g.(?_ 126681)_(127523_?) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 126,681 | 127,523 |
| nssv17649950 | Submitted genomic | NC_000016.9:g.(?_1 76680)_(177522_?)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 176,680 | 177,522 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17649950 | GRCh37: NC_000016.9:g.(?_176680)_(177522_?)del | copy number loss | unknown | ALPHA-THALASSEMIA; Alpha-Thalassemia; Alpha-thalassemia; alpha Thalassemia | not provided | ClinVar | RCV001535752.1, VCV001177507.1 | 1 |