nsv6315332
- 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:92,538,062
- Description:GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) 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: 132761 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 132737 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315332 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 63,466,005 | 156,004,066 |
| nsv6315332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 62,685,885 | 155,233,731 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17977005 | copy number loss | Multiple | Multiple | Turner syndrome | Pathogenic | ClinVar | RCV002280672.1, VCV001703584.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977005 | Remapped | Good | NC_000023.11:g.(?_ 63466005)_(1560040 66_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 63,466,005 | 156,004,066 |
| nssv17977005 | Submitted genomic | NC_000023.10:g.(?_ 62685885)_(1552337 31_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 62,685,885 | 155,233,731 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17977005 | GRCh37: NC_000023.10:g.(?_62685885)_(155233731_?)del | copy number loss | unknown | Turner syndrome | Pathogenic | ClinVar | RCV002280672.1, VCV001703584.1 |