nsv6636012
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:100
- Description:NM_024577.4(SH3TC2):c.3675+505_3675+604del 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: 79 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6636012 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 149,006,277 | 149,006,376 |
| nsv6636012 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 148,385,840 | 148,385,939 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18328844 | deletion | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Uncertain significance | ClinVar | RCV002463483.1, VCV001801391.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18328844 | Submitted genomic | NC_000005.10:g.149 006277_149006376de l | GRCh38 (hg38) | NC_000005.10 | Chr5 | 149,006,277 | 149,006,376 |
| nssv18328844 | Submitted genomic | NC_000005.9:g.1483 85840_148385939del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 148,385,840 | 148,385,939 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18328844 | GRCh37: NC_000005.9:g.148385840_148385939del, GRCh38: NC_000005.10:g.149006277_149006376del | deletion | unknown | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Uncertain significance | ClinVar | RCV002463483.1, VCV001801391.1 |