nsv6315291
- 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:4,249
- Description:NC_000023.11:g.153585471_153589719del AND Syndactyly-telecanthus-anogenital and renal malformations syndrome
- Publication(s):Unger et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 81 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6315291 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 153,585,470 | 153,589,718 |
| nsv6315291 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 152,850,928 | 152,855,176 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976921 | deletion | Multiple | Multiple | STAR syndrome; Syndactyly-telecanthus-anogenital and renal malformations syndrome; TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR | Pathogenic | ClinVar | RCV000011418.8, VCV000010672.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17976921 | Submitted genomic | NC_000023.11:g.153 585470_153589718de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 153,585,470 | 153,589,718 |
| nssv17976921 | Submitted genomic | NC_000023.10:g.152 850928_152855176de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 152,850,928 | 152,855,176 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976921 | GRCh37: NC_000023.10:g.152850928_152855176del, GRCh38: NC_000023.11:g.153585470_153589718del | deletion | germline | STAR syndrome; Syndactyly-telecanthus-anogenital and renal malformations syndrome; TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR | Pathogenic | ClinVar | RCV000011418.8, VCV000010672.1 |