nsv6315292
- 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:40,071
- Description:NC_000023.11:g.153595512_153635582del 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: 195 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315292 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 153,595,512 | 153,635,582 | ||
| nsv6315292 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 152,860,970 | 152,901,037 |
| nsv6315292 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,029,495 | 1,069,565 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976920 | deletion | Multiple | Multiple | STAR syndrome; Syndactyly-telecanthus-anogenital and renal malformations syndrome; TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR | Pathogenic | ClinVar | RCV000011417.6, VCV000010671.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976920 | Submitted genomic | NC_000023.11:g.153 595512_153635582de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 153,595,512 | 153,635,582 | ||
| nssv17976920 | Remapped | Perfect | NW_003871103.3:g.1 029495_1069565del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,029,495 | 1,069,565 |
| nssv17976920 | Remapped | Good | NC_000023.10:g.152 860970_152901037de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 152,860,970 | 152,901,037 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976920 | GRCh38: NC_000023.11:g.153595512_153635582del | deletion | germline | STAR syndrome; Syndactyly-telecanthus-anogenital and renal malformations syndrome; TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS; STAR | Pathogenic | ClinVar | RCV000011417.6, VCV000010671.1 |