nsv6290546
- 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:7,410,762
- Description:GRCh37/hg19 Xq24-25(chrX:119173583-126584360)x2 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: 11391 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 11395 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290546 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 120,039,618 | 127,450,379 |
| nsv6290546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 119,173,583 | 126,584,360 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956102 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001829257.1, VCV001341314.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956102 | Remapped | Perfect | NC_000023.11:g.(?_ 120039618)_(127450 379_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 120,039,618 | 127,450,379 |
| nssv17956102 | Submitted genomic | NC_000023.10:g.(?_ 119173583)_(126584 360_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 119,173,583 | 126,584,360 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956102 | GRCh37: NC_000023.10:g.(?_119173583)_(126584360_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001829257.1, VCV001341314.1 | 2 |