nsv4728701
- 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:9,973
- Description:NM_000516.7(GNAS):c.257+197_531-8del AND Pseudopseudohypoparathyroidism
- Publication(s):Haldeman-Englert et al. 2017
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 69 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 69 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4728701 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 58,899,177 | 58,909,149 |
| nsv4728701 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 57,474,232 | 57,484,204 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16254686 | deletion | Multiple | Multiple | Disorders of GNAS Inactivation; PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP; Pseudopseudohypoparathyroidism; Pseudopseudohypoparathyroidism | Likely pathogenic | ClinVar | RCV001260996.1, VCV000981521.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16254686 | Submitted genomic | NC_000020.11:g.588 99177_58909149del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 58,899,177 | 58,909,149 |
| nssv16254686 | Submitted genomic | NC_000020.10:g.574 74232_57484204del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 57,474,232 | 57,484,204 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16254686 | GRCh37: NC_000020.10:g.57474232_57484204del, GRCh38: NC_000020.11:g.58899177_58909149del | deletion | germline | Disorders of GNAS Inactivation; PSEUDOPSEUDOHYPOPARATHYROIDISM; PPHP; Pseudopseudohypoparathyroidism; Pseudopseudohypoparathyroidism | Likely pathogenic | ClinVar | RCV001260996.1, VCV000981521.1 |