nsv1398103
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:38,147
- Description:NM_001301131.1(POLR2F):c.294-27388_*10734del AND Hirschsprung disease, susceptibility to, 1
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 131 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv1398103 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 38,013,680 | 38,051,826 |
| nsv1398103 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 38,409,687 | 38,447,833 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv8639455 | deletion | Multiple | Multiple | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1; Hirschsprung disease; Hirschsprung disease 1 | Pathogenic | ClinVar | RCV000144842.1, VCV000156718.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639455 | Submitted genomic | NC_000022.11:g.380 13680_38051826del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 38,013,680 | 38,051,826 |
| nssv8639455 | Submitted genomic | NC_000022.10:g.384 09687_38447833del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 38,409,687 | 38,447,833 |
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 |
|---|---|---|---|---|---|---|---|
| nssv8639455 | GRCh37: NC_000022.10:g.38409687_38447833del, GRCh38: NC_000022.11:g.38013680_38051826del | deletion | de novo | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1; Hirschsprung disease; Hirschsprung disease 1 | Pathogenic | ClinVar | RCV000144842.1, VCV000156718.1 |