nsv5672624
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:10,978
- Description:NC_000011.9:g.(?_111956548)_(111967525_?)del AND multiple conditions
- Publication(s):Chen et al. 2010, Else et al. 2008, Fishbein et al. 2021, Lenders et al. 2014, Lu et al. 2014, Miller et al. 2021, Miller et al. 2022, No authors et al. 2021, No authors et al. 2021, Reaume et al. 2013
- ClinVar: RCV002242855.9
- ClinVar: VCV001076623.5
- GeneReviews: NBK1548
- HP: 0002666
- MONDO: 0008233
- MONDO: 0011740
- MONDO: 0014045
- MedGen: C0031511
- MedGen: C1847319
- MedGen: C1868633
- MedGen: CN166604
- OMIM: 171300
- OMIM: 606864
- Orphanet: 201
- Orphanet: 29072
- Orphanet: 97286
- PubMed: 20301715
- PubMed: 20664475
- PubMed: 24319509
- PubMed: 24493721
- PubMed: 24893135
- PubMed: 26389258
- PubMed: 26389271
- PubMed: 33939658
- PubMed: 34012068
- PubMed: 35802134
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 102 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672624 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 112,085,824 | 112,096,801 |
| nsv5672624 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 111,956,548 | 111,967,525 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976320 | deletion | Multiple | Multiple | Carney-Stratakis syndrome; Cowden syndrome; Cowden syndrome 3; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA; PHEOCHROMOCYTOMA; Paraganglioma and gastric stromal sarcoma; Paragangliomas 1; Pheochromocytoma; Pheochromocytoma | Pathogenic | ClinVar | RCV002242855.9, VCV001076623.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976320 | Remapped | Perfect | NC_000011.10:g.(?_ 112085824)_(112096 801_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 112,085,824 | 112,096,801 |
| nssv17976320 | Submitted genomic | NC_000011.9:g.(?_1 11956548)_(1119675 25_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 111,956,548 | 111,967,525 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976320 | GRCh37: NC_000011.9:g.(?_111956548)_(111967525_?)del | deletion | germline | Carney-Stratakis syndrome; Cowden syndrome; Cowden syndrome 3; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA; PHEOCHROMOCYTOMA; Paraganglioma and gastric stromal sarcoma; Paragangliomas 1; Pheochromocytoma; Pheochromocytoma | Pathogenic | ClinVar | RCV002242855.9, VCV001076623.5 |