nsv4729230
- 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:6,119,372
- Description:GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)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: 16811 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 16817 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729230 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 32,192,408 | 38,311,779 |
| nsv4729230 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 32,192,406 | 38,311,776 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254389 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001259519.1, VCV000980343.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254389 | Remapped | Perfect | NC_000009.12:g.(?_ 32192408)_(3831177 9_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 32,192,408 | 38,311,779 |
| nssv16254389 | Submitted genomic | NC_000009.11:g.(?_ 32192406)_(3831177 6_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 32,192,406 | 38,311,776 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254389 | GRCh37: NC_000009.11:g.(?_32192406)_(38311776_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001259519.1, VCV000980343.1 | 3 |