nsv6636684
- 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:3,265,744
- Description:GRCh37/hg19 Xp11.4-11.3(chrX:41350855-44616591)x0 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: 4234 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 4234 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636684 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 41,491,602 | 44,757,345 |
| nsv6636684 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 41,350,855 | 44,616,591 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330277 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474537.1, VCV001808692.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330277 | Remapped | Perfect | NC_000023.11:g.(?_ 41491602)_(4475734 5_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 41,491,602 | 44,757,345 |
| nssv18330277 | Submitted genomic | NC_000023.10:g.(?_ 41350855)_(4461659 1_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 41,350,855 | 44,616,591 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330277 | GRCh37: NC_000023.10:g.(?_41350855)_(44616591_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474537.1, VCV001808692.1 | 0 |