nsv6290194
- 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:1,628
- Description:NM_000174.5(GP9):c.-210_*133del (p.Met1fs) AND Bernard Soulier syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 101 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6290194 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 129,060,779 | 129,062,406 |
| nsv6290194 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 128,779,622 | 128,781,249 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17955896 | deletion | Multiple | Multiple | BERNARD-SOULIER SYNDROME; BSS; Bernard Soulier syndrome; Bernard-Soulier Syndrome; Bernard-Soulier syndrome | Pathogenic | ClinVar | RCV001818109.2, VCV001338739.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17955896 | Submitted genomic | NC_000003.12:g.129 060779_129062406de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 129,060,779 | 129,062,406 |
| nssv17955896 | Submitted genomic | NC_000003.11:g.128 779622_128781249de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 128,779,622 | 128,781,249 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17955896 | GRCh37: NC_000003.11:g.128779622_128781249del, GRCh38: NC_000003.12:g.129060779_129062406del | deletion | biparental | BERNARD-SOULIER SYNDROME; BSS; Bernard Soulier syndrome; Bernard-Soulier Syndrome; Bernard-Soulier syndrome | Pathogenic | ClinVar | RCV001818109.2, VCV001338739.3 |