nsv4455186
- 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:69,324,379
- Description:GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)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: 187869 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 187540 SVs from 147 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455186 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 68,801,559 | 138,125,937 |
| nsv4455186 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 71,416,475 | 141,020,389 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775708 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000847808.2, VCV000687100.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775708 | Remapped | Good | NC_000009.12:g.(?_ 68801559)_(1381259 37_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 68,801,559 | 138,125,937 |
| nssv15775708 | Submitted genomic | NC_000009.11:g.(?_ 71416475)_(1410203 89_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 71,416,475 | 141,020,389 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775708 | GRCh37: NC_000009.11:g.(?_71416475)_(141020389_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000847808.2, VCV000687100.2 | 3 |