nsv4451881
- 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:288,269
- Description:NC_000006.11:g.(?_33131435)_(33419703_?)dup AND Intellectual disability, autosomal dominant 5
- Publication(s):Holder et al. 2019
- ClinVar: RCV000817954.2
- ClinVar: VCV000660703.1
- GeneReviews: NBK537721
- MONDO: 0012960
- MedGen: C2675473
- OMIM: 603384.0001
- OMIM: 603384.0002
- OMIM: 603384.0003
- OMIM: 603384.0005
- OMIM: 603384.0006
- OMIM: 603384.0007
- OMIM: 603384.0008
- OMIM: 603384.0009
- OMIM: 603384.0010
- OMIM: 612621
- PubMed: 30789692
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 754 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 754 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4451881 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 33,163,658 | 33,451,926 |
| nsv4451881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 33,131,435 | 33,419,703 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15771778 | duplication | Multiple | Multiple | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5; Mental retardation, autosomal dominant 5; SYNGAP1-Related Intellectual Disability; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV000817954.2, VCV000660703.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15771778 | Submitted genomic | NC_000006.12:g.(?_ 33163658)_(3345192 6_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 33,163,658 | 33,451,926 |
| nssv15771778 | Submitted genomic | NC_000006.11:g.(?_ 33131435)_(3341970 3_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 33,131,435 | 33,419,703 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15771778 | GRCh37: NC_000006.11:g.(?_33131435)_(33419703_?)dup, GRCh38: NC_000006.12:g.(?_33163658)_(33451926_?)dup | duplication | germline | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5; Mental retardation, autosomal dominant 5; SYNGAP1-Related Intellectual Disability; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV000817954.2, VCV000660703.1 |