nsv4729419
- 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:2,994,711
- Description:GRCh37/hg19 9q21.33-22.2(chr9:90031614-93173691)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: 8237 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 8169 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729419 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 87,416,699 | 90,411,409 |
| nsv4729419 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 90,031,614 | 93,173,691 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254797 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001258443.1, VCV000979267.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254797 | Remapped | Good | NC_000009.12:g.(?_ 87416699)_(9041140 9_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 87,416,699 | 90,411,409 |
| nssv16254797 | Submitted genomic | NC_000009.11:g.(?_ 90031614)_(9317369 1_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 90,031,614 | 93,173,691 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254797 | GRCh37: NC_000009.11:g.(?_90031614)_(93173691_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001258443.1, VCV000979267.1 | 1 |