nsv4451753
- 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:548,552
- Description:NC_000020.10:g.157772_706326dup 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: 2283 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2285 SVs from 95 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4451753 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 177,131 | 725,682 |
| nsv4451753 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 157,772 | 706,326 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15755172 | duplication | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Uncertain significance | ClinVar | RCV000787408.2, VCV000635902.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15755172 | Remapped | Good | NC_000020.11:g.177 131_725682dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 177,131 | 725,682 |
| nssv15755172 | Submitted genomic | NC_000020.10:g.157 772_706326dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 157,772 | 706,326 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15755172 | GRCh37: NC_000020.10:g.157772_706326dup | duplication | germline | Neurodevelopmental Disorders; Neurodevelopmental disorder | Uncertain significance | ClinVar | RCV000787408.2, VCV000635902.2 |