nsv3894488
- 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:21,124,635
- Description:GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 57247 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 57210 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894488 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 88,419,290 | 109,543,924 |
| nsv3894488 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 88,152,458 | 109,414,650 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150613 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510457.2, VCV000441837.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150613 | Remapped | Good | NC_000011.10:g.(?_ 88419290)_(1095439 24_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 88,419,290 | 109,543,924 |
| nssv15150613 | Submitted genomic | NC_000011.9:g.(?_8 8152458)_(10941465 0_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 88,152,458 | 109,414,650 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150613 | GRCh37: NC_000011.9:g.(?_88152458)_(109414650_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000510457.2, VCV000441837.2 | 1 |