nsv3878122
- 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:97,093
- Description:GRCh37/hg19 Xq12(chrX:67497166-67594258) 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: 295 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 295 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3878122 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 68,277,324 | 68,374,416 |
| nsv3878122 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 67,497,166 | 67,594,258 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969670 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053142.3, VCV001526810.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969670 | Remapped | Perfect | NC_000023.11:g.(?_ 68277324)_(6837441 6_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 68,277,324 | 68,374,416 |
| nssv17969670 | Submitted genomic | NC_000023.10:g.(?_ 67497166)_(6759425 8_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 67,497,166 | 67,594,258 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969670 | GRCh37: NC_000023.10:g.(?_67497166)_(67594258_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053142.3, VCV001526810.3 |