nsv3874472
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:23,935
- Description:NC_000023.11:g.(?_40051246)_(40075180_?)del AND Oculofaciocardiodental syndrome
- Publication(s):Hilton et al. 2009
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 136 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3874472 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 40,051,246 | 40,075,180 | ||
| nsv3874472 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 39,910,499 | 39,934,433 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15123015 | deletion | Multiple | Multiple | MICROPHTHALMIA, SYNDROMIC 2; MCOPS2; Oculofaciocardiodental syndrome | Pathogenic | ClinVar | RCV000157080.5, VCV000180243.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15123015 | Submitted genomic | NC_000023.11:g.(?_ 40051246)_(4007518 0_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 40,051,246 | 40,075,180 | ||
| nssv15123015 | Remapped | Perfect | NC_000023.10:g.(?_ 39910499)_(3993443 3_?)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 39,910,499 | 39,934,433 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15123015 | GRCh38: NC_000023.11:g.(?_40051246)_(40075180_?)del | deletion | unknown | MICROPHTHALMIA, SYNDROMIC 2; MCOPS2; Oculofaciocardiodental syndrome | Pathogenic | ClinVar | RCV000157080.5, VCV000180243.2 |