nsv3914470
- 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:16,159
- Description:NC_000023.10:g.(?_147030199)_(147046357_?)del 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: 120 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3914470 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 147,948,679 | 147,964,837 |
| nsv3914470 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 147,030,199 | 147,046,357 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15124980 | deletion | Multiple | Multiple | Intellectual Disability; Intellectual disability; Intellectual disability | Pathogenic | ClinVar | RCV000258914.2, VCV000268184.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124980 | Remapped | Perfect | NC_000023.11:g.(?_ 147948679)_(147964 837_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 147,948,679 | 147,964,837 |
| nssv15124980 | Submitted genomic | NC_000023.10:g.(?_ 147030199)_(147046 357_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 147,030,199 | 147,046,357 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15124980 | GRCh37: NC_000023.10:g.(?_147030199)_(147046357_?)del | deletion | maternal | Intellectual Disability; Intellectual disability; Intellectual disability | Pathogenic | ClinVar | RCV000258914.2, VCV000268184.1 |