nsv6315330
- 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:57,562,993
- Description:GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) 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: 98537 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 97815 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315330 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 251,879 | 57,814,871 |
| nsv6315330 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 168,546 | 57,841,304 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17977004 | copy number loss | Multiple | Multiple | Turner syndrome | Pathogenic | ClinVar | RCV002280671.1, VCV001703583.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977004 | Remapped | Good | NC_000023.11:g.(?_ 251879)_(57814871_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 251,879 | 57,814,871 |
| nssv17977004 | Submitted genomic | NC_000023.10:g.(?_ 168546)_(57841304_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 57,841,304 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17977004 | GRCh37: NC_000023.10:g.(?_168546)_(57841304_?)del | copy number loss | unknown | Turner syndrome | Pathogenic | ClinVar | RCV002280671.1, VCV001703583.1 |