nsv3879598
- 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:541,823
- Description:GRCh37/hg19 Xp22.31(chrX:7236970-7828792)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: 1294 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1303 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3879598 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 7,318,929 | 7,860,751 |
| nsv3879598 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 7,236,970 | 7,828,792 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15174968 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV000753353.2, VCV000616717.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15174968 | Remapped | Pass | NC_000023.11:g.(?_ 7318929)_(7860751_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 7,318,929 | 7,860,751 |
| nssv15174968 | Submitted genomic | NC_000023.10:g.(?_ 7236970)_(7828792_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 7,236,970 | 7,828,792 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15174968 | GRCh37: NC_000023.10:g.(?_7236970)_(7828792_?)dup | copy number gain | unknown | not provided | Likely benign | ClinVar | RCV000753353.2, VCV000616717.2 | 3 |