nsv4456028
- 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:38,269,122
- Description:GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 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: 114393 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 114397 SVs from 141 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456028 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 203,861 | 38,472,982 |
| nsv4456028 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 203,861 | 38,472,979 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15777248 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848175.2, VCV000687476.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15777248 | Remapped | Perfect | NC_000009.12:g.(?_ 203861)_(38472982_ ?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 203,861 | 38,472,982 |
| nssv15777248 | Submitted genomic | NC_000009.11:g.(?_ 203861)_(38472979_ ?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 203,861 | 38,472,979 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15777248 | GRCh37: NC_000009.11:g.(?_203861)_(38472979_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000848175.2, VCV000687476.2 | 3 |