nsv1398343
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:411,354
- Description:NC_000014.9:g.100489287_100900640del411354 AND Paternal uniparental disomy of chromosome 14
- Publication(s):Del Gaudio et al. 2020
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1294 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1294 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv1398343 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 100,489,287 | 100,900,640 |
| nsv1398343 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 100,955,624 | 101,366,977 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv8639697 | deletion | Multiple | Multiple | KAGAMI-OGATA SYNDROME; Kagami-Ogata syndrome; Uniparental disomy, paternal, chromosome 14 | Pathogenic | ClinVar | RCV000149428.1, VCV000162009.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv8639697 | Submitted genomic | NC_000014.9:g.1004 89287_100900640del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 100,489,287 | 100,900,640 |
| nssv8639697 | Submitted genomic | NC_000014.8:g.1009 55624_101366977del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 100,955,624 | 101,366,977 |
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 |
|---|---|---|---|---|---|---|---|
| nssv8639697 | GRCh37: NC_000014.8:g.100955624_101366977del, GRCh38: NC_000014.9:g.100489287_100900640del | deletion | maternal | KAGAMI-OGATA SYNDROME; Kagami-Ogata syndrome; Uniparental disomy, paternal, chromosome 14 | Pathogenic | ClinVar | RCV000149428.1, VCV000162009.1 |