nsv6289884
- 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:968,006
- Description:NC_000001.11:g.173848142_174816147del 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: 2179 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2182 SVs from 87 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6289884 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 173,848,142 | 174,816,147 | ||
| nsv6289884 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 173,817,280 | 174,785,285 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955551 | deletion | Multiple | Multiple | ANTITHROMBIN III DEFICIENCY; AT3D; Reduced antithrombin III activity; Reduced antithrombin III activity | Pathogenic | ClinVar | RCV001779992.1, VCV001321908.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955551 | Submitted genomic | NC_000001.11:g.173 848142_174816147de l | GRCh38 (hg38) | NC_000001.11 | Chr1 | 173,848,142 | 174,816,147 | ||
| nssv17955551 | Remapped | Perfect | NC_000001.10:g.173 817280_174785285de l | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 173,817,280 | 174,785,285 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955551 | GRCh38: NC_000001.11:g.173848142_174816147del | deletion | germline | ANTITHROMBIN III DEFICIENCY; AT3D; Reduced antithrombin III activity; Reduced antithrombin III activity | Pathogenic | ClinVar | RCV001779992.1, VCV001321908.1 |