nsv4453377
- 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:310,960
- Description:GRCh37/hg19 Xq22.1(chrX:100713166-101024110)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: 507 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4453377 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 101,458,178 | 101,769,137 |
| nsv4453377 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 100,713,166 | 101,024,110 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775290 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847086.2, VCV000686378.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775290 | Remapped | Good | NC_000023.11:g.(?_ 101458178)_(101769 137_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 101,458,178 | 101,769,137 |
| nssv15775290 | Submitted genomic | NC_000023.10:g.(?_ 100713166)_(101024 110_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 100,713,166 | 101,024,110 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775290 | GRCh37: NC_000023.10:g.(?_100713166)_(101024110_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000847086.2, VCV000686378.2 | 2 |