nsv4683509
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:9,855
- Description:NC_000017.11:g.(?_15229767)_(15239621_?)del AND Charcot-Marie-Tooth disease, type I
- Publication(s):Bird et al. 1998
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 145 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683509 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 15,229,767 | 15,239,621 |
| nsv4683509 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 15,133,084 | 15,142,938 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16213644 | deletion | Multiple | Multiple | Charcot-Marie-Tooth Neuropathy Type 1; Charcot-Marie-Tooth disease, type I | Pathogenic | ClinVar | RCV001031957.1, VCV000831399.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16213644 | Remapped | Perfect | NC_000017.11:g.(?_ 15229767)_(1523962 1_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,229,767 | 15,239,621 |
| nssv16213644 | Submitted genomic | NC_000017.10:g.(?_ 15133084)_(1514293 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,133,084 | 15,142,938 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16213644 | GRCh37: NC_000017.10:g.(?_15133084)_(15142938_?)del | deletion | germline | Charcot-Marie-Tooth Neuropathy Type 1; Charcot-Marie-Tooth disease, type I | Pathogenic | ClinVar | RCV001031957.1, VCV000831399.1 |