nsv3909006
- 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:14,218,846
- Description:GRCh37/hg19 21q11.2-21.3(chr21:15006457-29225300)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: 43599 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 43570 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3909006 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 13,634,136 | 27,852,981 |
| nsv3909006 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 15,006,457 | 29,225,300 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142182 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510539.2, VCV000442418.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142182 | Remapped | Perfect | NC_000021.9:g.(?_1 3634136)_(27852981 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 13,634,136 | 27,852,981 |
| nssv15142182 | Submitted genomic | NC_000021.8:g.(?_1 5006457)_(29225300 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 15,006,457 | 29,225,300 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142182 | GRCh37: NC_000021.8:g.(?_15006457)_(29225300_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000510539.2, VCV000442418.2 | 1 |