nsv7097893
- 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:189,288
- Description:NC_000008.10:g.(?_134107268)_(134296554_?)del AND Charcot-Marie-Tooth disease type 4
- 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: 492 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 492 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097893 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 133,095,024 | 133,284,311 |
| nsv7097893 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 134,107,268 | 134,296,554 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790682 | deletion | Multiple | Multiple | Charcot-Marie-Tooth disease type 4 | Pathogenic | ClinVar | RCV003116528.1, VCV002425511.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790682 | Remapped | Good | NC_000008.11:g.(?_ 133095024)_(133284 311_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 133,095,024 | 133,284,311 |
| nssv18790682 | Submitted genomic | NC_000008.10:g.(?_ 134107268)_(134296 554_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 134,107,268 | 134,296,554 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790682 | GRCh37: NC_000008.10:g.(?_134107268)_(134296554_?)del | deletion | germline | Charcot-Marie-Tooth disease type 4 | Pathogenic | ClinVar | RCV003116528.1, VCV002425511.2 |