nsv6291415
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,325,135
- Description:GRCh37/hg19 3p25.3-25.2(chr3:10970972-12295919)x1 AND Schizophrenia
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3988 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3876 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291415 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 10,929,286 | 12,254,420 |
| nsv6291415 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 10,970,972 | 12,295,919 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957362 | copy number loss | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | not provided | ClinVar | RCV001825255.1, VCV001339872.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957362 | Remapped | Good | NC_000003.12:g.(?_ 10929286)_(1225442 0_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 10,929,286 | 12,254,420 |
| nssv17957362 | Submitted genomic | NC_000003.11:g.(?_ 10970972)_(1229591 9_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 10,970,972 | 12,295,919 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957362 | GRCh37: NC_000003.11:g.(?_10970972)_(12295919_?)del | copy number loss | de novo | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | not provided | ClinVar | RCV001825255.1, VCV001339872.1 | 1 |