nsv3872214
- 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:221,857
- Description:NC_000016.10:g.(?_6360351)_(6582207_?)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: 865 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 865 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3872214 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 6,360,351 | 6,582,207 | ||
| nsv3872214 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 6,410,352 | 6,632,208 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15145033 | deletion | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Likely pathogenic | ClinVar | RCV000754191.1, VCV000545207.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15145033 | Submitted genomic | NC_000016.10:g.(?_ 6360351)_(6582207_ ?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 6,360,351 | 6,582,207 | ||
| nssv15145033 | Remapped | Perfect | NC_000016.9:g.(?_6 410352)_(6632208_? )del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 6,410,352 | 6,632,208 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15145033 | GRCh38: NC_000016.10:g.(?_6360351)_(6582207_?)del | deletion | germline | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Likely pathogenic | ClinVar | RCV000754191.1, VCV000545207.1 |