nsv5673998
- 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:342,916
- Description:NC_000005.9:g.(?_87776690)_(88119605_?)del AND Intellectual disability, autosomal dominant 20
- ClinVar: RCV001382343.1
- ClinVar: VCV001070269.1
- MONDO: 0013266
- MedGen: C3150700
- OMIM: 600662.0001
- OMIM: 600662.0002
- OMIM: 600662.0003
- OMIM: 600662.0004
- OMIM: 600662.0005
- OMIM: 600662.0006
- OMIM: 600662.0007
- OMIM: 600662.0008
- OMIM: 600662.0009
- OMIM: 600662.0010
- OMIM: 613443
- Orphanet: 228384
- 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: 781 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 782 SVs from 70 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673998 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 88,480,873 | 88,823,788 |
| nsv5673998 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 87,776,690 | 88,119,605 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172660 | deletion | Multiple | Multiple | 5q14.3 microdeletion syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001382343.1, VCV001070269.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172660 | Remapped | Perfect | NC_000005.10:g.(?_ 88480873)_(8882378 8_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 88,480,873 | 88,823,788 |
| nssv17172660 | Submitted genomic | NC_000005.9:g.(?_8 7776690)_(88119605 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 87,776,690 | 88,119,605 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172660 | GRCh37: NC_000005.9:g.(?_87776690)_(88119605_?)del | deletion | germline | 5q14.3 microdeletion syndrome; MENTAL RETARDATION, AUTOSOMAL DOMINANT 20; MRD20; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001382343.1, VCV001070269.1 |