nsv7097033
- 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:576,363
- Description:NC_000006.11:g.(?_109690054)_(110266416_?)dup 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: 1260 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1260 SVs from 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7097033 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 109,368,851 | 109,945,213 |
| nsv7097033 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 109,690,054 | 110,266,416 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18790927 | duplication | Multiple | Multiple | Charcot-Marie-Tooth disease type 4 | Uncertain significance | ClinVar | RCV003116784.1, VCV002425986.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18790927 | Remapped | Perfect | NC_000006.12:g.(?_ 109368851)_(109945 213_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 109,368,851 | 109,945,213 |
| nssv18790927 | Submitted genomic | NC_000006.11:g.(?_ 109690054)_(110266 416_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 109,690,054 | 110,266,416 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18790927 | GRCh37: NC_000006.11:g.(?_109690054)_(110266416_?)dup | duplication | germline | Charcot-Marie-Tooth disease type 4 | Uncertain significance | ClinVar | RCV003116784.1, VCV002425986.1 |