nsv3920950
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:18,678,178
- Description:GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)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: 60073 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 60075 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 15548 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920950 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 204,104 | 18,882,281 |
| nsv3920950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 204,104 | 18,882,279 |
| nsv3920950 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 194,104 | 18,872,279 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146671 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135694.6, VCV000146394.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146671 | Submitted genomic | NC_000009.12:g.(?_ 204104)_(18882281_ ?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 204,104 | 18,882,281 |
| nssv15146671 | Submitted genomic | NC_000009.11:g.(?_ 204104)_(18882279_ ?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 204,104 | 18,882,279 |
| nssv15146671 | Submitted genomic | NC_000009.10:g.(?_ 194104)_(18872279_ ?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 194,104 | 18,872,279 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146671 | GRCh37: NC_000009.11:g.(?_204104)_(18882279_?)del, GRCh38: NC_000009.12:g.(?_204104)_(18882281_?)del, NCBI36: NC_000009.10:g.(?_194104)_(18872279_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135694.6, VCV000146394.2 | 1 |