nsv6634391
- 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:12,690,321
- Description:GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)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: 20510 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 20376 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634391 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 143,313,746 | 156,004,066 |
| nsv6634391 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 142,401,540 | 155,233,731 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326477 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002292203.1, VCV001710916.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326477 | Remapped | Good | NC_000023.11:g.(14 3313746_?)_(?_1560 04066)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 143,313,746 | 156,004,066 |
| nssv18326477 | Submitted genomic | NC_000023.10:g.(14 2401540_?)_(?_1552 33731)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 142,401,540 | 155,233,731 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326477 | GRCh37: NC_000023.10:g.(142401540_?)_(?_155233731)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002292203.1, VCV001710916.1 | 1 |