nsv4436658
- 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:956,666
- Description:Single allele AND Neurodevelopmental disorder
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2540 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2543 SVs from 87 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436658 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 53,390,914 | 54,347,579 |
| nsv4436658 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 53,784,698 | 54,741,363 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15755147 | deletion | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV000787381.2, VCV000635875.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15755147 | Remapped | Perfect | NC_000012.12:g.533 90914_54347579del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 53,390,914 | 54,347,579 |
| nssv15755147 | Submitted genomic | NC_000012.11:g.537 84698_54741363del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 53,784,698 | 54,741,363 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15755147 | GRCh37: NC_000012.11:g.53784698_54741363del | deletion | germline | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV000787381.2, VCV000635875.2 |