nsv6315089
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:143,172
- Description:GRCh38/hg38 Xp22.33(chrX:3678994-3822165)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: 567 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 567 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315089 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 3,678,994 | 3,822,165 | ||
| nsv6315089 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 3,597,035 | 3,740,206 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976574 | copy number gain | Multiple | Multiple | not provided | not provided | ClinVar | RCV002266549.1, VCV001696407.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976574 | Submitted genomic | NC_000023.11:g.(?_ 3678994)_(3822165_ ?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 3,678,994 | 3,822,165 | ||
| nssv17976574 | Remapped | Perfect | NC_000023.10:g.(?_ 3597035)_(3740206_ ?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 3,597,035 | 3,740,206 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976574 | GRCh38: NC_000023.11:g.(?_3678994)_(3822165_?)dup | copy number gain | maternal | not provided | not provided | ClinVar | RCV002266549.1, VCV001696407.1 | 2 |