nsv5059968
- 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:56,179,483
- Description:GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 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: 96332 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 95610 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5059968 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 251,879 | 56,431,361 |
| nsv5059968 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 168,546 | 56,457,794 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16596327 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001281358.1, VCV000992647.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16596327 | Remapped | Good | NC_000023.11:g.(25 1879_?)_(?_5643136 1)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 251,879 | 56,431,361 |
| nssv16596327 | Submitted genomic | NC_000023.10:g.(16 8546_?)_(?_5645779 4)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 168,546 | 56,457,794 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16596327 | GRCh37: NC_000023.10:g.(168546_?)_(?_56457794)del | copy number loss | de novo | not provided | Pathogenic | ClinVar | RCV001281358.1, VCV000992647.1 | 1 |