nsv4728486
- 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:55,137,102
- Description:GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 94243 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 93521 SVs from 114 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728486 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 302,942 | 55,440,043 |
| nsv4728486 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 219,609 | 55,466,476 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254746 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001263061.1, VCV000983193.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254746 | Remapped | Good | NC_000023.11:g.(30 2942_?)_(?_5544004 3)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 302,942 | 55,440,043 |
| nssv16254746 | Submitted genomic | NC_000023.10:g.(21 9609_?)_(?_5546647 6)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 219,609 | 55,466,476 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254746 | GRCh37: NC_000023.10:g.(219609_?)_(?_55466476)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV001263061.1, VCV000983193.1 | 1 |