nsv6309294
- 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:24,080
- Description:NC_000011.9:g.(?_95574771)_(95598850_?)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: 165 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6309294 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 95,841,607 | 95,865,686 |
| nsv6309294 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 95,574,771 | 95,598,850 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17974154 | duplication | Multiple | Multiple | Charcot-Marie-Tooth disease type 4 | Uncertain significance | ClinVar | RCV001871138.3, VCV001375886.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17974154 | Remapped | Perfect | NC_000011.10:g.(?_ 95841607)_(9586568 6_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 95,841,607 | 95,865,686 |
| nssv17974154 | Submitted genomic | NC_000011.9:g.(?_9 5574771)_(95598850 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 95,574,771 | 95,598,850 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17974154 | GRCh37: NC_000011.9:g.(?_95574771)_(95598850_?)dup | duplication | germline | Charcot-Marie-Tooth disease type 4 | Uncertain significance | ClinVar | RCV001871138.3, VCV001375886.3 |