nsv4769399
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:223,469
- Description:NC_000023.10:g.[(?_29619835)_(29843303_?);(?_3
0646799)_(30848980_?)dup] AND Intellectual disability - Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 502 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 502 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769399 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 29,601,718 | 29,825,186 |
| nsv4769399 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 29,619,835 | 29,843,303 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16297162 | complex substitution | Multiple | Multiple | Intellectual Disability; Intellectual disability; Intellectual disability | Likely pathogenic | ClinVar | RCV001271074.2, VCV000989434.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16297162 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 29,601,718 | 29,825,186 |
| nssv16297162 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 29,619,835 | 29,843,303 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| nssv16297162 | complex substitution | inherited | Intellectual Disability; Intellectual disability; Intellectual disability | Likely pathogenic | ClinVar | RCV001271074.2, VCV000989434.1 |