nsv3912959
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:delins
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:12,943
- Description:NC_000002.11:g.31757164_31770106del12943insCA AND 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 148 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3912959 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 31,532,094 | 31,545,036 |
| nsv3912959 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 31,757,164 | 31,770,106 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15131755 | delins | Multiple | Multiple | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH | Pathogenic | ClinVar | RCV000681614.3, VCV000562141.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15131755 | Submitted genomic | NC_000002.12:g.315 32094_31545036deli nsCA | GRCh38 (hg38) | NC_000002.12 | Chr2 | 31,532,094 | 31,545,036 |
| nssv15131755 | Submitted genomic | NC_000002.11:g.317 57164_31770106deli nsCA | GRCh37 (hg19) | NC_000002.11 | Chr2 | 31,757,164 | 31,770,106 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15131755 | GRCh37: NC_000002.11:g.31757164_31770106delinsCA, GRCh38: NC_000002.12:g.31532094_31545036delinsCA | delins | inherited | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH | Pathogenic | ClinVar | RCV000681614.3, VCV000562141.3 |