nsv6637396
- 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:23,028,847
- Description:GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)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: 61758 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 61690 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637396 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 81,767,467 | 104,796,313 |
| nsv6637396 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 81,478,509 | 104,667,040 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329245 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002475722.1, VCV001809349.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329245 | Remapped | Good | NC_000011.10:g.(?_ 81767467)_(1047963 13_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 81,767,467 | 104,796,313 |
| nssv18329245 | Submitted genomic | NC_000011.9:g.(?_8 1478509)_(10466704 0_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 81,478,509 | 104,667,040 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329245 | GRCh37: NC_000011.9:g.(?_81478509)_(104667040_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002475722.1, VCV001809349.1 | 1 |