nsv3876706
- 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:185,125
- Description:
NC_000020.11:g.(?_42303583)_(42488707_?)del AND Autism - Publication(s):Kushima et al. 2018, Miller et al. 2010
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 567 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 567 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3876706 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 42,303,583 | 42,488,707 | ||
| nsv3876706 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 40,932,223 | 41,117,347 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15160825 | deletion | Multiple | Multiple | AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset | Likely pathogenic | ClinVar | RCV000754219.1, VCV000545235.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15160825 | Submitted genomic | NC_000020.11:g.(?_ 42303583)_(4248870 7_?)del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 42,303,583 | 42,488,707 | ||
| nssv15160825 | Remapped | Perfect | NC_000020.10:g.(?_ 40932223)_(4111734 7_?)del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 40,932,223 | 41,117,347 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15160825 | GRCh38: NC_000020.11:g.(?_42303583)_(42488707_?)del | deletion | germline | AUTISM; Autism; Autistic Disorder; Autistic disorder of childhood onset | Likely pathogenic | ClinVar | RCV000754219.1, VCV000545235.1 |