nsv6112817
- 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:6,293
- Description:GRCh38/hg38 Xq22.2(chrX:106032435-106038727)x2,3 AND Thyroxine-binding globulin quantitative trait locus
- Publication(s):Mori et al. 1995
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 112 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6112817 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 106,032,435 | 106,038,727 | ||
| nsv6112817 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 105,276,426 | 105,282,718 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17649850 | copy number gain | Multiple | Multiple | THYROXINE-BINDING GLOBULIN QUANTITATIVE TRAIT LOCUS; TBGQTL; Thyroxine-binding globulin quantitative trait locus | association | ClinVar | RCV000010461.3, VCV000009793.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17649850 | Submitted genomic | NC_000023.11:g.(?_ 106032435)_(106038 727_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 106,032,435 | 106,038,727 | ||
| nssv17649850 | Remapped | Perfect | NC_000023.10:g.(?_ 105276426)_(105282 718_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 105,276,426 | 105,282,718 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17649850 | GRCh38: NC_000023.11:g.(?_106032435)_(106038727_?)dup | copy number gain | germline | THYROXINE-BINDING GLOBULIN QUANTITATIVE TRAIT LOCUS; TBGQTL; Thyroxine-binding globulin quantitative trait locus | association | ClinVar | RCV000010461.3, VCV000009793.1 |