nsv7098108
- 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:503,095
- Description:NC_000023.10:g.(?_106456106)_(106959200_?)dup AND Charcot-Marie-Tooth Neuropathy X
- 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: 763 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 763 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098108 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 107,212,876 | 107,715,970 |
| nsv7098108 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 106,456,106 | 106,959,200 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787615 | duplication | Multiple | Multiple | Charcot-Marie-Tooth Neuropathy X | Uncertain significance | ClinVar | RCV003122616.1, VCV002424530.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787615 | Remapped | Perfect | NC_000023.11:g.(?_ 107212876)_(107715 970_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 107,212,876 | 107,715,970 |
| nssv18787615 | Submitted genomic | NC_000023.10:g.(?_ 106456106)_(106959 200_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 106,456,106 | 106,959,200 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787615 | GRCh37: NC_000023.10:g.(?_106456106)_(106959200_?)dup | duplication | germline | Charcot-Marie-Tooth Neuropathy X | Uncertain significance | ClinVar | RCV003122616.1, VCV002424530.3 |