nsv6636180
- 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:2,292
- Description:
NC_000002.12:g.239925792_239928083del 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: 147 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6636180 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 239,925,792 | 239,928,083 |
| nsv6636180 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 240,865,209 | 240,867,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18330639 | deletion | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Uncertain significance | ClinVar | RCV002463562.1, VCV001801470.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18330639 | Submitted genomic | NC_000002.12:g.239 925792_239928083de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 239,925,792 | 239,928,083 |
| nssv18330639 | Submitted genomic | NC_000002.11:g.240 865209_240867500de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 240,865,209 | 240,867,500 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18330639 | GRCh37: NC_000002.11:g.240865209_240867500del, GRCh38: NC_000002.12:g.239925792_239928083del | deletion | unknown | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Uncertain significance | ClinVar | RCV002463562.1, VCV001801470.1 |