nsv3904761
- 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:33,103,105
- Description:GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)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: 85849 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 85788 SVs from 141 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904761 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 80,342,410 | 113,445,514 |
| nsv3904761 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 80,053,454 | 113,316,236 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15157249 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000737595.2, VCV000600959.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15157249 | Remapped | Good | NC_000011.10:g.(?_ 80342410)_(1134455 14_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 80,342,410 | 113,445,514 |
| nssv15157249 | Submitted genomic | NC_000011.9:g.(?_8 0053454)_(11331623 6_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 80,053,454 | 113,316,236 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15157249 | GRCh37: NC_000011.9:g.(?_80053454)_(113316236_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000737595.2, VCV000600959.2 | 1 |