nsv4728499
- 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:100,487,461
- Description:GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 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: 138967 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 138914 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728499 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 55,481,356 | 155,968,816 |
| nsv4728499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 55,507,789 | 155,198,481 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254724 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001263024.1, VCV000983156.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254724 | Remapped | Good | NC_000023.11:g.(55 481356_?)_(?_15596 8816)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 55,481,356 | 155,968,816 |
| nssv16254724 | Submitted genomic | NC_000023.10:g.(55 507789_?)_(?_15519 8481)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 55,507,789 | 155,198,481 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254724 | GRCh37: NC_000023.10:g.(55507789_?)_(?_155198481)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV001263024.1, VCV000983156.1 | 3 |