nsv4675731
- 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:1,352,867
- Description:GRCh37/hg19 9q34.11(chr9:130957344-132310210)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: 5439 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 5439 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675731 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 128,195,065 | 129,547,931 |
| nsv4675731 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,957,344 | 132,310,210 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208259 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006274.1, VCV000815297.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208259 | Remapped | Perfect | NC_000009.12:g.(?_ 128195065)_(129547 931_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 128,195,065 | 129,547,931 |
| nssv16208259 | Submitted genomic | NC_000009.11:g.(?_ 130957344)_(132310 210_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,957,344 | 132,310,210 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208259 | GRCh37: NC_000009.11:g.(?_130957344)_(132310210_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006274.1, VCV000815297.1 | 1 |