nsv3873698
- 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:160,783
- Description:Single allele AND Jeune thoracic dystrophy
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 540 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 540 SVs from 72 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3873698 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 103,145,752 | 103,306,534 |
| nsv3873698 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 103,016,481 | 103,177,263 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15160857 | deletion | Multiple | Multiple | Jeune thoracic dystrophy; Short-rib thoracic dysplasia | Pathogenic | ClinVar | RCV000754946.3, VCV000558749.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15160857 | Submitted genomic | NC_000011.10:g.103 145752_103306534de l | GRCh38 (hg38) | NC_000011.10 | Chr11 | 103,145,752 | 103,306,534 |
| nssv15160857 | Submitted genomic | NC_000011.9:g.1030 16481_103177263del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 103,016,481 | 103,177,263 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15160857 | GRCh37: NC_000011.9:g.103016481_103177263del, GRCh38: NC_000011.10:g.103145752_103306534del | deletion | maternal | Jeune thoracic dystrophy; Short-rib thoracic dysplasia | Pathogenic | ClinVar | RCV000754946.3, VCV000558749.3 | 1 |