nsv5381058
- 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:17,638,947
- Description:GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) AND multiple conditions
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 45891 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 45805 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381058 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 101,555,909 | 119,194,855 |
| nsv5381058 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 102,021,465 | 119,737,478 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867372 | copy number loss | Multiple | Multiple | Neurodevelopmental delay; Neurodevelopmental delay; Seizure; Seizures | Pathogenic | ClinVar | RCV001352640.1, VCV001047871.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867372 | Remapped | Good | NC_000001.11:g.(?_ 101555909)_(119194 855_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 101,555,909 | 119,194,855 |
| nssv16867372 | Submitted genomic | NC_000001.10:g.(?_ 102021465)_(119737 478_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 102,021,465 | 119,737,478 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867372 | GRCh37: NC_000001.10:g.(?_102021465)_(119737478_?)del | copy number loss | de novo | Neurodevelopmental delay; Neurodevelopmental delay; Seizure; Seizures | Pathogenic | ClinVar | RCV001352640.1, VCV001047871.1 |