nsv7093114
- 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:122
- Description:NM_000079.4(CHRNA1):c.345-63_403del AND Lethal multiple pterygium syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 122 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093114 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 174,754,356 | 174,754,477 |
| nsv7093114 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 175,619,084 | 175,619,205 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786191 | deletion | Multiple | Multiple | Lethal multiple pterygium syndrome; Lethal multiple pterygium syndrome; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS | Pathogenic | ClinVar | RCV003043768.1, VCV002125739.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786191 | Submitted genomic | NC_000002.12:g.174 754356_174754477de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 174,754,356 | 174,754,477 |
| nssv18786191 | Submitted genomic | NC_000002.11:g.175 619084_175619205de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 175,619,084 | 175,619,205 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786191 | GRCh37: NC_000002.11:g.175619084_175619205del, GRCh38: NC_000002.12:g.174754356_174754477del | deletion | germline | Lethal multiple pterygium syndrome; Lethal multiple pterygium syndrome; MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE; LMPS | Pathogenic | ClinVar | RCV003043768.1, VCV002125739.1 |