nsv5381769
- 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:5,935,257
- Description:GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178) AND Global developmental delay
- Publication(s):Manickam et al. 2021, Michelson et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 25626 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 25409 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381769 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 127,685,418 | 133,620,674 |
| nsv5381769 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 129,483,682 | 135,434,178 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867397 | copy number loss | Multiple | Multiple | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV001352664.1, VCV001047895.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867397 | Remapped | Good | NC_000010.11:g.(?_ 127685418)_(133620 674_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 127,685,418 | 133,620,674 |
| nssv16867397 | Submitted genomic | NC_000010.10:g.(?_ 129483682)_(135434 178_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 129,483,682 | 135,434,178 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867397 | GRCh37: NC_000010.10:g.(?_129483682)_(135434178_?)del | copy number loss | de novo | Global developmental delay; Global developmental delay | Pathogenic | ClinVar | RCV001352664.1, VCV001047895.1 |