nsv3882702
- 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:106
- Description:NC_000006.12:g.(?_109691416)_(109691521_?)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: 92 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3882702 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 109,691,416 | 109,691,521 |
| nsv3882702 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 110,012,619 | 110,012,724 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15143202 | deletion | Multiple | Multiple | Charcot-Marie-Tooth disease type 4 | Pathogenic | ClinVar | RCV000537235.5, VCV000476840.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15143202 | Submitted genomic | NC_000006.12:g.(?_ 109691416)_(109691 521_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 109,691,416 | 109,691,521 |
| nssv15143202 | Submitted genomic | NC_000006.11:g.(?_ 110012619)_(110012 724_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 110,012,619 | 110,012,724 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15143202 | GRCh37: NC_000006.11:g.(?_110012619)_(110012724_?)del, GRCh38: NC_000006.12:g.(?_109691416)_(109691521_?)del | deletion | germline | Charcot-Marie-Tooth disease type 4 | Pathogenic | ClinVar | RCV000537235.5, VCV000476840.5 |