nsv4676119
- 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:3,967,682
- Description:GRCh37/hg19 22q11.1-11.21(chr22:16888899-20730144)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 14120 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 14490 SVs from 134 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676119 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 16,408,173 | 20,375,854 |
| nsv4676119 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 16,888,899 | 20,730,144 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208593 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007159.1, VCV000816193.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208593 | Remapped | Good | NC_000022.11:g.(?_ 16408173)_(2037585 4_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,408,173 | 20,375,854 |
| nssv16208593 | Submitted genomic | NC_000022.10:g.(?_ 16888899)_(2073014 4_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,888,899 | 20,730,144 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208593 | GRCh37: NC_000022.10:g.(?_16888899)_(20730144_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007159.1, VCV000816193.1 | 1 |