nsv3879838
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:90,071
- Description:NC_000020.11:g.(?_42472130)_(42562200_?)del AND Schizophrenia
- Publication(s):Kushima et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 489 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 489 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3879838 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 42,472,130 | 42,562,200 | ||
nsv3879838 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 41,100,770 | 41,190,840 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv15160826 | deletion | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Likely pathogenic | ClinVar | RCV000754221.1, VCV000545237.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15160826 | Submitted genomic | NC_000020.11:g.(?_ 42472130)_(4256220 0_?)del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 42,472,130 | 42,562,200 | ||
nssv15160826 | Remapped | Perfect | NC_000020.10:g.(?_ 41100770)_(4119084 0_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 41,100,770 | 41,190,840 |
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 |
---|---|---|---|---|---|---|---|
nssv15160826 | GRCh38: NC_000020.11:g.(?_42472130)_(42562200_?)del | deletion | germline | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Likely pathogenic | ClinVar | RCV000754221.1, VCV000545237.1 |