nsv3905423
- 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:32,494,681
- Description:GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 102722 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 102771 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3905423 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 14,166,334 | 46,661,014 |
| nsv3905423 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,538,655 | 48,080,926 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146956 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000239948.2, VCV000253512.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15146956 | Remapped | Good | NC_000021.9:g.(?_1 4166334)_(46661014 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 14,166,334 | 46,661,014 |
| nssv15146956 | Submitted genomic | NC_000021.8:g.(?_1 5538655)_(48080926 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,538,655 | 48,080,926 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146956 | GRCh37: NC_000021.8:g.(?_15538655)_(48080926_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000239948.2, VCV000253512.2 | 1 |