nsv3905118
- 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:138,213,056
- Description:GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 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: 327205 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 327201 SVs from 149 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3905118 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 10,590 | 138,223,645 |
| nsv3905118 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 10,590 | 141,114,095 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15168486 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000748054.2, VCV000611418.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15168486 | Remapped | Good | NC_000009.12:g.(?_ 10590)_(138223645_ ?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 10,590 | 138,223,645 |
| nssv15168486 | Submitted genomic | NC_000009.11:g.(?_ 10590)_(141114095_ ?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 10,590 | 141,114,095 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15168486 | GRCh37: NC_000009.11:g.(?_10590)_(141114095_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000748054.2, VCV000611418.2 | 2 |