nsv6635978
- 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:134
- Description:
NM_020822.3(KCNT1):c.760-365_760-232del 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: 228 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 228 SVs from 44 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6635978 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 135,758,049 | 135,758,182 |
| nsv6635978 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 138,649,895 | 138,650,028 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18330609 | deletion | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Uncertain significance | ClinVar | RCV002463500.1, VCV001801408.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18330609 | Submitted genomic | NC_000009.12:g.135 758049_135758182de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 135,758,049 | 135,758,182 |
| nssv18330609 | Submitted genomic | NC_000009.11:g.138 649895_138650028de l | GRCh37 (hg19) | NC_000009.11 | Chr9 | 138,649,895 | 138,650,028 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18330609 | GRCh37: NC_000009.11:g.138649895_138650028del, GRCh38: NC_000009.12:g.135758049_135758182del | deletion | unknown | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Uncertain significance | ClinVar | RCV002463500.1, VCV001801408.1 |