nsv3884820
- 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:176,158
- Description:NC_000011.10:g.(?_84809995)_(84986152_?)del AND Schizophrenia
- Publication(s):Kushima et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 566 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 567 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3884820 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 84,809,995 | 84,986,152 | ||
| nsv3884820 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 84,521,038 | 84,697,196 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15145194 | deletion | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Likely pathogenic | ClinVar | RCV000754135.1, VCV000545151.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15145194 | Submitted genomic | NC_000011.10:g.(?_ 84809995)_(8498615 2_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 84,809,995 | 84,986,152 | ||
| nssv15145194 | Remapped | Good | NC_000011.9:g.(?_8 4521038)_(84697196 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 84,521,038 | 84,697,196 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15145194 | GRCh38: NC_000011.10:g.(?_84809995)_(84986152_?)del | deletion | germline | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Likely pathogenic | ClinVar | RCV000754135.1, VCV000545151.1 |