nsv4676178
- 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:4,642,011
- Description:GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)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: 12255 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 12265 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676178 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 26,453,781 | 31,095,791 |
| nsv4676178 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 27,826,100 | 32,468,109 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208577 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007118.1, VCV000816152.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208577 | Remapped | Perfect | NC_000021.9:g.(?_2 6453781)_(31095791 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 26,453,781 | 31,095,791 |
| nssv16208577 | Submitted genomic | NC_000021.8:g.(?_2 7826100)_(32468109 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 27,826,100 | 32,468,109 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208577 | GRCh37: NC_000021.8:g.(?_27826100)_(32468109_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007118.1, VCV000816152.1 | 1 |