nsv3875104
- 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:443,030
- Description:NC_000002.12:g.(?_130725519)_(131168548_?)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: 1248 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1248 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3875104 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 130,725,519 | 131,168,548 | ||
| nsv3875104 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 131,483,092 | 131,926,121 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15145228 | deletion | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Likely pathogenic | ClinVar | RCV000754227.1, VCV000545243.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15145228 | Submitted genomic | NC_000002.12:g.(?_ 130725519)_(131168 548_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 130,725,519 | 131,168,548 | ||
| nssv15145228 | Remapped | Perfect | NC_000002.11:g.(?_ 131483092)_(131926 121_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 131,483,092 | 131,926,121 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15145228 | GRCh38: NC_000002.12:g.(?_130725519)_(131168548_?)del | deletion | germline | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Likely pathogenic | ClinVar | RCV000754227.1, VCV000545243.1 |