nsv3872572
- 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:162,130
- Description:NC_000004.12:g.(?_92930845)_(93092974_?)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: 738 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 738 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3872572 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 92,930,845 | 93,092,974 | ||
| nsv3872572 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 93,851,996 | 94,014,125 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15145243 | deletion | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Likely pathogenic | ClinVar | RCV000754291.1, VCV000545307.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15145243 | Submitted genomic | NC_000004.12:g.(?_ 92930845)_(9309297 4_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 92,930,845 | 93,092,974 | ||
| nssv15145243 | Remapped | Perfect | NC_000004.11:g.(?_ 93851996)_(9401412 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 93,851,996 | 94,014,125 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15145243 | GRCh38: NC_000004.12:g.(?_92930845)_(93092974_?)del | deletion | germline | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Likely pathogenic | ClinVar | RCV000754291.1, VCV000545307.1 |