nsv4674310
- 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:793,762
- Description:GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1457 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 1458 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674310 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 100,655,470 | 101,449,231 |
| nsv4674310 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 99,910,467 | 100,704,219 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207566 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007327.1, VCV000816373.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207566 | Remapped | Good | NC_000023.11:g.(?_ 100655470)_(101449 231_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 100,655,470 | 101,449,231 |
| nssv16207566 | Submitted genomic | NC_000023.10:g.(?_ 99910467)_(1007042 19_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 99,910,467 | 100,704,219 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207566 | GRCh37: NC_000023.10:g.(?_99910467)_(100704219_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001007327.1, VCV000816373.1 | 2 |