nsv6289937
- 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:1
- Description:NM_000602.4(SERPINE1):c.-820_-817G(4_5) AND Transcription level of plasminogen activator inhibitor 1
- Publication(s):Dawson et al. 1993, Eriksson et al. 1995, Heiman et al. 2017, Hermans et al. 1999, Margaglione et al. 1998, Rossaak et al. 2000, Westendorp et al. 1999, Yamada et al. 2000, Yoon et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 109 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6289937 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 101,126,426 | 101,126,426 |
| nsv6289937 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 100,769,707 | 100,769,707 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955480 | duplication | Multiple | Multiple | Complete Plasminogen Activator Inhibitor 1 Deficiency; See individual phenotypes in OMIM allelic variants; Transcription level of plasminogen activator inhibitor 1 | Pathogenic; other | ClinVar | RCV000014540.25, VCV000013572.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17955480 | Submitted genomic | NC_000007.14:g.101 126426dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 101,126,426 | 101,126,426 |
| nssv17955480 | Submitted genomic | NC_000007.13:g.100 769707dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,769,707 | 100,769,707 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955480 | GRCh37: NC_000007.13:g.100769707dup, GRCh38: NC_000007.14:g.101126426dup | duplication | see ClinVar for details | Complete Plasminogen Activator Inhibitor 1 Deficiency; See individual phenotypes in OMIM allelic variants; Transcription level of plasminogen activator inhibitor 1 | Pathogenic; other | ClinVar | RCV000014540.25, VCV000013572.2 |