nsv7148178
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,162,788
- Description:GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1 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: 6768 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 6743 SVs from 108 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148178 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 62,632,017 | 63,794,804 | ||
| nsv7148178 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 61,267,734 | 62,426,157 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841909 | copy number loss | Multiple | Multiple | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV003327727.1, VCV002579288.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841909 | Submitted genomic | NC_000020.11:g.626 32017_63794804del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 62,632,017 | 63,794,804 | ||
| nssv18841909 | Remapped | Good | NC_000020.10:g.612 67734_62426157del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 61,267,734 | 62,426,157 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841909 | GRCh38: NC_000020.11:g.62632017_63794804del | copy number loss | de novo | Neurodevelopmental Disorders; Neurodevelopmental disorder | Pathogenic | ClinVar | RCV003327727.1, VCV002579288.1 | 1 |