nsv4675789
- 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:1,701,489
- Description:GRCh37/hg19 9q33.2-33.3(chr9:124604592-126306080)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: 3852 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 3852 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675789 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 121,842,313 | 123,543,801 |
| nsv4675789 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 124,604,592 | 126,306,080 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208257 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006270.1, VCV000815293.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208257 | Remapped | Perfect | NC_000009.12:g.(?_ 121842313)_(123543 801_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 121,842,313 | 123,543,801 |
| nssv16208257 | Submitted genomic | NC_000009.11:g.(?_ 124604592)_(126306 080_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 124,604,592 | 126,306,080 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208257 | GRCh37: NC_000009.11:g.(?_124604592)_(126306080_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001006270.1, VCV000815293.1 | 1 |