nsv4675758
- 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:126,694
- Description:GRCh37/hg19 11p15.4(chr11:7670248-7797257)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: 440 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 469 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675758 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 7,649,017 | 7,775,710 |
| nsv4675758 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 7,670,248 | 7,797,257 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208908 | copy number loss | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001006383.1, VCV000815406.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208908 | Remapped | Good | NC_000011.10:g.(?_ 7649017)_(7775710_ ?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 7,649,017 | 7,775,710 |
| nssv16208908 | Submitted genomic | NC_000011.9:g.(?_7 670248)_(7797257_? )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 7,670,248 | 7,797,257 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208908 | GRCh37: NC_000011.9:g.(?_7670248)_(7797257_?)del | copy number loss | germline | not provided | Likely benign | ClinVar | RCV001006383.1, VCV000815406.1 | 1 |