nsv5673592
- 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:80
- Description:NM_001142800.2(EYS):c.8773_8852del (p.Ser2925fs) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 70 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 70 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5673592 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 63,721,179 | 63,721,258 |
| nsv5673592 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 64,431,075 | 64,431,154 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171654 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001387813.6, VCV001074494.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17171654 | Submitted genomic | NC_000006.12:g.637 21179_63721258del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 63,721,179 | 63,721,258 |
| nssv17171654 | Submitted genomic | NC_000006.11:g.644 31075_64431154del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 64,431,075 | 64,431,154 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171654 | GRCh37: NC_000006.11:g.64431075_64431154del, GRCh38: NC_000006.12:g.63721179_63721258del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001387813.6, VCV001074494.6 |