nsv4728389
- 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:125,758
- Description:GRCh37/hg19 Xp22.31(chrX:7266135-7391892)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: 519 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 519 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728389 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 7,348,094 | 7,473,851 |
| nsv4728389 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 7,266,135 | 7,391,892 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255689 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001260017.1, VCV000980841.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255689 | Remapped | Perfect | NC_000023.11:g.(?_ 7348094)_(7473851_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 7,348,094 | 7,473,851 |
| nssv16255689 | Submitted genomic | NC_000023.10:g.(?_ 7266135)_(7391892_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 7,266,135 | 7,391,892 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255689 | GRCh37: NC_000023.10:g.(?_7266135)_(7391892_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001260017.1, VCV000980841.1 | 3 |