nsv6289953
- 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:75,820
- Description:NC_000021.9:g.37347863_37423682del AND DYRK1A-related intellectual disability syndrome
- Publication(s):Abe-Hatano et al. 2021, van Bon et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 290 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 290 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6289953 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 37,347,863 | 37,423,682 |
| nsv6289953 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 38,720,165 | 38,795,984 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16867436 | deletion | Multiple | Multiple | DYRK1A Syndrome; DYRK1A-related intellectual disability syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001310254.1, VCV000981631.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16867436 | Submitted genomic | NC_000021.9:g.3734 7863_37423682del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 37,347,863 | 37,423,682 |
| nssv16867436 | Submitted genomic | NC_000021.8:g.3872 0165_38795984del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 38,720,165 | 38,795,984 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16867436 | GRCh37: NC_000021.8:g.38720165_38795984del, GRCh38: NC_000021.9:g.37347863_37423682del | deletion | de novo | DYRK1A Syndrome; DYRK1A-related intellectual disability syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001310254.1, VCV000981631.1 |