nsv3971772
- 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:14,969
- Description:NC_000012.12:g.53306793_53321761del AND Glucocorticoid deficiency with achalasia
- 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 35 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3971772 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 53,306,793 | 53,321,761 | ||
| nsv3971772 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 53,700,577 | 53,715,545 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15222906 | deletion | Multiple | Multiple | ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS; Glucocorticoid deficiency with achalasia; Triple A syndrome | Pathogenic | ClinVar | RCV000760142.1, VCV000619949.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15222906 | Submitted genomic | NC_000012.12:g.533 06793_53321761del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 53,306,793 | 53,321,761 | ||
| nssv15222906 | Remapped | Perfect | NC_000012.11:g.537 00577_53715545del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 53,700,577 | 53,715,545 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15222906 | GRCh38: NC_000012.12:g.53306793_53321761del | deletion | not applicable | ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAAS; Glucocorticoid deficiency with achalasia; Triple A syndrome | Pathogenic | ClinVar | RCV000760142.1, VCV000619949.1 |