nsv5674075
- 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:4,853
- Description:NC_000023.10:g.(?_100604853)_(100609705_?)del AND X-linked agammaglobulinemia with growth hormone deficiency
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 90 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5674075 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 101,349,865 | 101,354,717 |
| nsv5674075 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 100,604,853 | 100,609,705 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17171515 | deletion | Multiple | Multiple | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA; IGHD3; Non acquired isolated growth hormone deficiency; See individual phenotypes in OMIM allelic variants; X-linked agammaglobulinemia with growth hormone deficiency | Pathogenic | ClinVar | RCV001385261.4, VCV001072527.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17171515 | Remapped | Perfect | NC_000023.11:g.(?_ 101349865)_(101354 717_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 101,349,865 | 101,354,717 |
| nssv17171515 | Submitted genomic | NC_000023.10:g.(?_ 100604853)_(100609 705_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 100,604,853 | 100,609,705 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17171515 | GRCh37: NC_000023.10:g.(?_100604853)_(100609705_?)del | deletion | germline | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA; IGHD3; Non acquired isolated growth hormone deficiency; See individual phenotypes in OMIM allelic variants; X-linked agammaglobulinemia with growth hormone deficiency | Pathogenic | ClinVar | RCV001385261.4, VCV001072527.4 |