nsv6315577
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:55,658,968
- Description:Single allele AND Turner syndrome
- Publication(s):Dondorp et al. 2015, Erbel et al. 2014, Gregg et al. 2016, Mintz et al. 2021, Zentner 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: 92047 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 91380 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315577 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 629,641 | 56,288,608 |
| nsv6315577 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 590,376 | 56,315,041 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17977003 | complex substitution | Multiple | Multiple | Turner syndrome | Pathogenic | ClinVar | RCV002280670.1, VCV001703582.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|
| nssv17977003 | Remapped | Good | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 629,641 | 56,288,608 |
| nssv17977003 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 590,376 | 56,315,041 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| nssv17977003 | complex substitution | unknown | Turner syndrome | Pathogenic | ClinVar | RCV002280670.1, VCV001703582.1 |