nsv7093332
- 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:2
- Description:
NM_005120.3(MED12):c.1924_1974+17dup AND FG syndrome 1 - Publication(s):Lyons et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 103 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093332 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 71,124,337 | 71,124,338 |
| nsv7093332 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 70,344,187 | 70,344,188 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786450 | duplication | Multiple | Multiple | FG syndrome 1; MED12-Related Disorders; OPITZ-KAVEGGIA SYNDROME; OKS | Uncertain significance | ClinVar | RCV002746737.1, VCV001975728.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786450 | Submitted genomic | NC_000023.11:g.711 24337_71124338dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 71,124,337 | 71,124,338 |
| nssv18786450 | Submitted genomic | NC_000023.10:g.703 44187_70344188dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 70,344,187 | 70,344,188 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786450 | GRCh37: NC_000023.10:g.70344187_70344188dup, GRCh38: NC_000023.11:g.71124337_71124338dup | duplication | germline | FG syndrome 1; MED12-Related Disorders; OPITZ-KAVEGGIA SYNDROME; OKS | Uncertain significance | ClinVar | RCV002746737.1, VCV001975728.2 |