nsv7093210
- 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:18,375
- Description:NC_000023.10:g.(?_76760355)_(76777867_76778729
)dup 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: 123 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 24 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv7093210 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 77,504,877 | 77,523,251 | 77,523,251 |
| nsv7093210 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 76,760,355 | 76,777,867 | 76,778,729 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786343 | duplication | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002510458.1, VCV001878405.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18786343 | Remapped | Perfect | NC_000023.11:g.(?_ 77504877)_(7752325 1_77523251)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 77,504,877 | 77,523,251 | 77,523,251 |
| nssv18786343 | Submitted genomic | NC_000023.10:g.(?_ 76760355)_(7677786 7_76778729)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 76,760,355 | 76,777,867 | 76,778,729 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786343 | GRCh37: NC_000023.10:g.(?_76760355)_(76777867_76778729)dup | duplication | germline | not specified | Uncertain significance | ClinVar | RCV002510458.1, VCV001878405.1 |