nsv4674615
- 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:19,828,566
- Description:GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)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: 37192 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 36895 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674615 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 1,140,165 | 20,968,730 |
| nsv4674615 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 1,240,318 | 20,986,848 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16209016 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007235.1, VCV000816281.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16209016 | Remapped | Good | NC_000023.11:g.(?_ 1140165)_(20968730 _?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,140,165 | 20,968,730 |
| nssv16209016 | Submitted genomic | NC_000023.10:g.(?_ 1240318)_(20986848 _?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,240,318 | 20,986,848 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16209016 | GRCh37: NC_000023.10:g.(?_1240318)_(20986848_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001007235.1, VCV000816281.1 | 2 |