nsv6314613
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:67
- Description:NM_003611.3(OFD1):c.2924_2928+62inv AND multiple conditions
- Publication(s):Parisi et al. 2003, Toriello et al. 2002, Valente et al. 2011
- ClinVar: RCV001944987.1
- ClinVar: VCV001413298.1
- GeneReviews: NBK1188
- GeneReviews: NBK1325
- MONDO: 0010702
- MONDO: 0018772
- MedGen: C0431399
- MedGen: C1510460
- OMIM: 213300
- OMIM: 311200
- OMIM: PS213300
- Orphanet: 2750
- Orphanet: 475
- PubMed: 20301367
- PubMed: 20301500
- PubMed: 21448235
- 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: 132 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6314613 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 13,768,220 | 13,768,286 |
| nsv6314613 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 13,786,339 | 13,786,405 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970764 | inversion | Multiple | Multiple | JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome; OROFACIODIGITAL SYNDROME I; OFD1; Oral-Facial-Digital Syndrome Type I; Orofaciodigital syndrome I; Orofaciodigital syndrome type 1 | Uncertain significance | ClinVar | RCV001944987.1, VCV001413298.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17970764 | Submitted genomic | NC_000023.11:g.137 68220_13768286inv6 7 | GRCh38 (hg38) | NC_000023.11 | ChrX | 13,768,220 | 13,768,286 |
| nssv17970764 | Submitted genomic | NC_000023.10:g.137 86339_13786405inv6 7 | GRCh37 (hg19) | NC_000023.10 | ChrX | 13,786,339 | 13,786,405 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970764 | GRCh37: NC_000023.10:g.13786339_13786405inv67, GRCh38: NC_000023.11:g.13768220_13768286inv67 | inversion | germline | JOUBERT SYNDROME 1; JBTS1; Joubert Syndrome; Joubert syndrome; Joubert syndrome; Joubert syndrome; OROFACIODIGITAL SYNDROME I; OFD1; Oral-Facial-Digital Syndrome Type I; Orofaciodigital syndrome I; Orofaciodigital syndrome type 1 | Uncertain significance | ClinVar | RCV001944987.1, VCV001413298.1 |