nsv3878248
- 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:997
- Description:NC_000011.10:g.(?_47437955)_(47438951_?)del AND multiple conditions
- Publication(s):Abicht et al. 2003
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 69 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 69 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3878248 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 47,437,955 | 47,438,951 |
| nsv3878248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 47,459,506 | 47,460,502 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15131053 | deletion | Multiple | Multiple | Congenital myasthenic syndrome; FETAL AKINESIA DEFORMATION SEQUENCE; FADS; Fetal akinesia deformation sequence; Fetal akinesia sequence; MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | Pathogenic | ClinVar | RCV000653222.1, VCV000542739.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131053 | Submitted genomic | NC_000011.10:g.(?_ 47437955)_(4743895 1_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 47,437,955 | 47,438,951 |
| nssv15131053 | Submitted genomic | NC_000011.9:g.(?_4 7459506)_(47460502 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 47,459,506 | 47,460,502 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15131053 | GRCh37: NC_000011.9:g.(?_47459506)_(47460502_?)del, GRCh38: NC_000011.10:g.(?_47437955)_(47438951_?)del | deletion | germline | Congenital myasthenic syndrome; FETAL AKINESIA DEFORMATION SEQUENCE; FADS; Fetal akinesia deformation sequence; Fetal akinesia sequence; MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | Pathogenic | ClinVar | RCV000653222.1, VCV000542739.1 |