nsv3903243
- 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:4,781,581
- Description:GRCh37/hg19 21q22.13-22.3(chr21:38790552-43619940)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: 14185 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 14181 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3903243 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 37,418,250 | 42,199,830 |
| nsv3903243 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 38,790,552 | 43,619,940 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148390 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000446516.3, VCV000394099.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15148390 | Remapped | Good | NC_000021.9:g.(?_3 7418250)_(42199830 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 37,418,250 | 42,199,830 |
| nssv15148390 | Submitted genomic | NC_000021.8:g.(?_3 8790552)_(43619940 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 38,790,552 | 43,619,940 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148390 | GRCh37: NC_000021.8:g.(?_38790552)_(43619940_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000446516.3, VCV000394099.3 | 1 |