nsv997201
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:13,911
- Description:TBX3
- Publication(s):Bamshad et al. 1999, Riggs et al. 2011, Sasaki et al. 2002
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 111 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv997201 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 114,670,254 | 114,684,164 |
| nsv997201 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 115,108,059 | 115,121,969 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442689 | copy number loss | Curated | Curated | ULNAR-MAMMARY SYNDROME; UMS | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442689 | Remapped | Perfect | NC_000012.12:g.(?_ 114670254)_(114684 164_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 114,670,254 | 114,684,164 |
| nssv3442689 | Submitted genomic | NC_000012.11:g.(?_ 115108059)_(115121 969_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 115,108,059 | 115,121,969 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442689 | GRCh37: NC_000012.11:g.(?_115108059)_(115121969_?)del | copy number loss | ULNAR-MAMMARY SYNDROME; UMS | Pathogenic | ClinGen Dosage Sensitivity Map | 1 |