nsv6313163
- 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:8,353,432
- Description:GRCh37/hg19 Xp22.11-21.2(chrX:23105194-31458625) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 13078 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 13078 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313163 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 23,087,077 | 31,440,508 |
| nsv6313163 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 23,105,194 | 31,458,625 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969326 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052790.3, VCV001526771.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969326 | Remapped | Perfect | NC_000023.11:g.(?_ 23087077)_(3144050 8_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 23,087,077 | 31,440,508 |
| nssv17969326 | Submitted genomic | NC_000023.10:g.(?_ 23105194)_(3145862 5_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 23,105,194 | 31,458,625 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969326 | GRCh37: NC_000023.10:g.(?_23105194)_(31458625_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002052790.3, VCV001526771.3 |