nsv3872146
- 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:9,952,287
- Description:GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)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: 25580 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 25582 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3872146 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 181,602,867 | 191,555,153 |
| nsv3872146 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 181,572,003 | 191,524,283 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15140054 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240242.2, VCV000253546.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15140054 | Remapped | Perfect | NC_000001.11:g.(?_ 181602867)_(191555 153_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 181,602,867 | 191,555,153 |
| nssv15140054 | Submitted genomic | NC_000001.10:g.(?_ 181572003)_(191524 283_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 181,572,003 | 191,524,283 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15140054 | GRCh37: NC_000001.10:g.(?_181572003)_(191524283_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000240242.2, VCV000253546.2 | 1 |