nsv7099016
- 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:298,441
- Description:
GRCh37/hg19 Xq28(chrX:148564272-148836483) 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: 554 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 548 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv7099016 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 149,482,103 | 149,482,103 | 149,780,543 | 149,780,543 |
| nsv7099016 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 148,563,634 | 148,564,272 | 148,836,483 | 148,862,206 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792823 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV003226895.1, VCV002501299.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv18792823 | Remapped | Good | NC_000023.11:g.(14 9482103_149482103) _(149780543_149780 543)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 149,482,103 | 149,482,103 | 149,780,543 | 149,780,543 |
| nssv18792823 | Submitted genomic | NC_000023.10:g.(14 8563634_148564272) _(148836483_148862 206)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 148,563,634 | 148,564,272 | 148,836,483 | 148,862,206 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792823 | GRCh37: NC_000023.10:g.(148563634_148564272)_(148836483_148862206)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV003226895.1, VCV002501299.1 |