nsv5674216
- 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:80,626
- Description:NC_000023.10:g.(?_66863078)_(66943703_?)del AND multiple conditions
- Publication(s):Gottlieb et al. 1999, La Spada et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 166 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 35 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5674216 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 67,643,236 | 67,723,861 |
| nsv5674216 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 66,863,078 | 66,943,703 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172705 | deletion | Multiple | Multiple | ANDROGEN INSENSITIVITY SYNDROME; AIS; Androgen Insensitivity Syndrome; Androgen resistance syndrome; Bulbo-spinal atrophy X-linked; Complete androgen insensitivity syndrome; Kennedy disease; SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; See individual phenotypes in OMIM allelic variants; Spinal and Bulbar Muscular Atrophy | Pathogenic | ClinVar | RCV001383814.1, VCV001071362.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172705 | Remapped | Perfect | NC_000023.11:g.(?_ 67643236)_(6772386 1_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 67,643,236 | 67,723,861 |
| nssv17172705 | Submitted genomic | NC_000023.10:g.(?_ 66863078)_(6694370 3_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 66,863,078 | 66,943,703 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172705 | GRCh37: NC_000023.10:g.(?_66863078)_(66943703_?)del | deletion | germline | ANDROGEN INSENSITIVITY SYNDROME; AIS; Androgen Insensitivity Syndrome; Androgen resistance syndrome; Bulbo-spinal atrophy X-linked; Complete androgen insensitivity syndrome; Kennedy disease; SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1; See individual phenotypes in OMIM allelic variants; Spinal and Bulbar Muscular Atrophy | Pathogenic | ClinVar | RCV001383814.1, VCV001071362.1 |