nsv6312131
- 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:49,992
- Description:NC_000006.11:g.(?_110048292)_(110098283_?)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: 167 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6312131 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 109,727,089 | 109,777,080 |
| nsv6312131 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 110,048,292 | 110,098,283 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17971664 | deletion | Multiple | Multiple | Charcot-Marie-Tooth disease type 4 | Pathogenic | ClinVar | RCV001958720.4, VCV001458878.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17971664 | Remapped | Perfect | NC_000006.12:g.(?_ 109727089)_(109777 080_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 109,727,089 | 109,777,080 |
| nssv17971664 | Submitted genomic | NC_000006.11:g.(?_ 110048292)_(110098 283_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 110,048,292 | 110,098,283 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17971664 | GRCh37: NC_000006.11:g.(?_110048292)_(110098283_?)del | deletion | germline | Charcot-Marie-Tooth disease type 4 | Pathogenic | ClinVar | RCV001958720.4, VCV001458878.4 |