nsv4675323
- 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:8,825,282
- Description:GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)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: 20863 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 20870 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 105,828,873 | 114,654,154 |
| nsv4675323 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 105,699,599 | 114,524,876 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208316 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006445.1, VCV000815468.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208316 | Remapped | Perfect | NC_000011.10:g.(?_ 105828873)_(114654 154_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 105,828,873 | 114,654,154 |
| nssv16208316 | Submitted genomic | NC_000011.9:g.(?_1 05699599)_(1145248 76_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 105,699,599 | 114,524,876 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208316 | GRCh37: NC_000011.9:g.(?_105699599)_(114524876_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006445.1, VCV000815468.1 | 1 |