nsv3888603
- 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:43,955
- Description:GRCh37/hg19 Xq24(chrX:118673728-118717682)x0 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: 170 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 170 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3888603 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 119,539,765 | 119,583,719 |
| nsv3888603 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 118,673,728 | 118,717,682 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124127 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240349.2, VCV000253628.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15124127 | Remapped | Perfect | NC_000023.11:g.(?_ 119539765)_(119583 719_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,539,765 | 119,583,719 |
| nssv15124127 | Submitted genomic | NC_000023.10:g.(?_ 118673728)_(118717 682_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,673,728 | 118,717,682 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124127 | GRCh37: NC_000023.10:g.(?_118673728)_(118717682_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000240349.2, VCV000253628.2 | 0 |