nsv4675646
- 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:13,899,871
- Description:GRCh37/hg19 9p24.3-23(chr9:203861-14103730)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: 47335 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 47336 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675646 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 203,861 | 14,103,731 |
| nsv4675646 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 203,861 | 14,103,730 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208210 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006165.1, VCV000815188.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208210 | Remapped | Perfect | NC_000009.12:g.(?_ 203861)_(14103731_ ?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 203,861 | 14,103,731 |
| nssv16208210 | Submitted genomic | NC_000009.11:g.(?_ 203861)_(14103730_ ?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 203,861 | 14,103,730 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208210 | GRCh37: NC_000009.11:g.(?_203861)_(14103730_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006165.1, VCV000815188.1 | 1 |