nsv3892176
- 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:7,338,393
- Description:GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)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: 19614 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 19614 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3892176 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 108,586,529 | 115,924,921 |
| nsv3892176 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 111,348,809 | 118,687,200 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150547 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000449308.3, VCV000394605.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150547 | Remapped | Perfect | NC_000009.12:g.(?_ 108586529)_(115924 921_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 108,586,529 | 115,924,921 |
| nssv15150547 | Submitted genomic | NC_000009.11:g.(?_ 111348809)_(118687 200_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 111,348,809 | 118,687,200 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150547 | GRCh37: NC_000009.11:g.(?_111348809)_(118687200_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000449308.3, VCV000394605.3 | 1 |