nsv3883152
- 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:8,984
- Description:NM_015474.3(SAMHD1):c.-6085_209-1941del AND Aicardi-Goutieres syndrome 5
- Publication(s):Crow et al. 2005, Leshinsky-Silver 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: 146 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3883152 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 36,948,745 | 36,957,728 |
| nsv3883152 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 35,577,148 | 35,586,131 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15145635 | deletion | Multiple | Multiple | AICARDI-GOUTIERES SYNDROME 5; AGS5; Aicardi Goutieres syndrome 5; Aicardi-Goutières Syndrome; Aicardi-Goutières syndrome | Pathogenic | ClinVar | RCV000023576.12, VCV000030603.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15145635 | Submitted genomic | NC_000020.11:g.369 48745_36957728del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 36,948,745 | 36,957,728 |
| nssv15145635 | Submitted genomic | NC_000020.10:g.355 77148_35586131del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 35,577,148 | 35,586,131 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15145635 | GRCh37: NC_000020.10:g.35577148_35586131del, GRCh38: NC_000020.11:g.36948745_36957728del | deletion | see ClinVar for details | AICARDI-GOUTIERES SYNDROME 5; AGS5; Aicardi Goutieres syndrome 5; Aicardi-Goutières Syndrome; Aicardi-Goutières syndrome | Pathogenic | ClinVar | RCV000023576.12, VCV000030603.3 |