nsv4674588
- 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:54,903,966
- Description:GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)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: 91550 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 90883 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674588 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 578,987 | 55,482,952 |
| nsv4674588 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 539,722 | 55,509,385 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208617 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007224.1, VCV000816270.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208617 | Remapped | Good | NC_000023.11:g.(?_ 578987)_(55482952_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 578,987 | 55,482,952 |
| nssv16208617 | Submitted genomic | NC_000023.10:g.(?_ 539722)_(55509385_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 539,722 | 55,509,385 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208617 | GRCh37: NC_000023.10:g.(?_539722)_(55509385_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001007224.1, VCV000816270.1 | 1 |