nsv5673399
- 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:24,208
- Description:NC_000001.10:g.(?_156084700)_(156108907_?)del AND Charcot-Marie-Tooth disease type 2
- 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: 130 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5673399 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 156,114,909 | 156,139,116 |
| nsv5673399 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 156,084,700 | 156,108,907 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17172813 | deletion | Multiple | Multiple | Charcot-Marie-Tooth disease, type 2 | Pathogenic | ClinVar | RCV001384413.2, VCV001071869.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17172813 | Remapped | Perfect | NC_000001.11:g.(?_ 156114909)_(156139 116_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 156,114,909 | 156,139,116 |
| nssv17172813 | Submitted genomic | NC_000001.10:g.(?_ 156084700)_(156108 907_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 156,084,700 | 156,108,907 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17172813 | GRCh37: NC_000001.10:g.(?_156084700)_(156108907_?)del | deletion | germline | Charcot-Marie-Tooth disease, type 2 | Pathogenic | ClinVar | RCV001384413.2, VCV001071869.2 |