nsv6636008
- 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:53
- Description:NM_014762.4(DHCR24):c.876+2630_876+2682del 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: 140 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6636008 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 54,868,668 | 54,868,720 |
| nsv6636008 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 55,334,341 | 55,334,393 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18328838 | deletion | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Uncertain significance | ClinVar | RCV002463475.1, VCV001801383.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18328838 | Submitted genomic | NC_000001.11:g.548 68668_54868720del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 54,868,668 | 54,868,720 |
| nssv18328838 | Submitted genomic | NC_000001.10:g.553 34341_55334393del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 55,334,341 | 55,334,393 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18328838 | GRCh37: NC_000001.10:g.55334341_55334393del, GRCh38: NC_000001.11:g.54868668_54868720del | deletion | unknown | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Uncertain significance | ClinVar | RCV002463475.1, VCV001801383.1 |