nsv6290578
- 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:580,212
- Description:GRCh37/hg19 Xq26.3(chrX:135767906-136348117)x3 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: 892 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 892 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290578 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 136,685,747 | 137,265,958 |
| nsv6290578 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 135,767,906 | 136,348,117 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957182 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001834459.1, VCV001341130.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957182 | Remapped | Perfect | NC_000023.11:g.(?_ 136685747)_(137265 958_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 136,685,747 | 137,265,958 |
| nssv17957182 | Submitted genomic | NC_000023.10:g.(?_ 135767906)_(136348 117_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 135,767,906 | 136,348,117 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957182 | GRCh37: NC_000023.10:g.(?_135767906)_(136348117_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001834459.1, VCV001341130.1 | 3 |