nsv6289891
- 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:1,855,937
- Description:NC_000001.11:g.172987296_174843232del AND Hereditary antithrombin deficiency
- Publication(s):Arachchillage et al. 2022, Pinette et al. 2010
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3975 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3978 SVs from 104 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6289891 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 172,987,296 | 174,843,232 | ||
| nsv6289891 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 172,956,436 | 174,812,370 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955564 | deletion | Multiple | Multiple | ANTITHROMBIN III DEFICIENCY; AT3D; Reduced antithrombin III activity; Reduced antithrombin III activity | Pathogenic | ClinVar | RCV001779981.1, VCV001321897.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955564 | Submitted genomic | NC_000001.11:g.172 987296_174843232de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 172,987,296 | 174,843,232 | ||
| nssv17955564 | Remapped | Perfect | NC_000001.10:g.172 956436_174812370de l | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 172,956,436 | 174,812,370 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955564 | GRCh38: NC_000001.11:g.172987296_174843232del | deletion | germline | ANTITHROMBIN III DEFICIENCY; AT3D; Reduced antithrombin III activity; Reduced antithrombin III activity | Pathogenic | ClinVar | RCV001779981.1, VCV001321897.1 |