nsv5380941
- 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:3,959,987
- Description:
NC_000010.10:g.49033586_52417694del AND Megacolon
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11632 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 6214 SVs from 111 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380941 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 45,999,930 | 49,959,916 |
| nsv5380941 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 49,033,586 | 52,417,694 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16596298 | deletion | Multiple | Multiple | Aganglionic megacolon | Likely pathogenic | ClinVar | RCV001290060.1, VCV000974738.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16596298 | Remapped | Pass | NC_000010.11:g.459 99930_49959916del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,999,930 | 49,959,916 |
| nssv16596298 | Submitted genomic | NC_000010.10:g.490 33586_52417694del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 49,033,586 | 52,417,694 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16596298 | GRCh37: NC_000010.10:g.49033586_52417694del | deletion | maternal | Aganglionic megacolon | Likely pathogenic | ClinVar | RCV001290060.1, VCV000974738.1 |