nsv3907741
- 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:2,701,127
- Description:GRCh37/hg19 20q13.13-13.2(chr20:47726521-50427649)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: 8157 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 8160 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3907741 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 49,109,984 | 51,811,110 |
| nsv3907741 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 47,726,521 | 50,427,649 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15150226 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000511416.2, VCV000442502.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15150226 | Remapped | Perfect | NC_000020.11:g.(?_ 49109984)_(5181111 0_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 49,109,984 | 51,811,110 |
| nssv15150226 | Submitted genomic | NC_000020.10:g.(?_ 47726521)_(5042764 9_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 47,726,521 | 50,427,649 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15150226 | GRCh37: NC_000020.10:g.(?_47726521)_(50427649_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000511416.2, VCV000442502.2 | 1 |