nsv6290258
- 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:3,168,097
- Description:GRCh37/hg19 9q21.33-22.2(chr9:90342469-93657932)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: 8513 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 8445 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290258 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 87,727,554 | 90,895,650 |
| nsv6290258 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 90,342,469 | 93,657,932 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842001 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV003329413.1, VCV001330172.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842001 | Remapped | Good | NC_000009.12:g.(?_ 87727554)_(9089565 0_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 87,727,554 | 90,895,650 |
| nssv18842001 | Submitted genomic | NC_000009.11:g.(?_ 90342469)_(9365793 2_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 90,342,469 | 93,657,932 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842001 | GRCh37: NC_000009.11:g.(?_90342469)_(93657932_?)del | copy number loss | de novo | See cases | Likely pathogenic | ClinVar | RCV003329413.1, VCV001330172.2 | 1 |