nsv6636109
- 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:346,526
- Description:GRCh37/hg19 Xp22.33(chrX:1240319-1605584)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: 3288 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 3099 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636109 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 1,140,166 | 1,486,691 |
| nsv6636109 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 1,240,319 | 1,605,584 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329877 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473609.1, VCV001808292.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329877 | Remapped | Pass | NC_000023.11:g.(?_ 1140166)_(1486691_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 1,140,166 | 1,486,691 |
| nssv18329877 | Submitted genomic | NC_000023.10:g.(?_ 1240319)_(1605584_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 1,240,319 | 1,605,584 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329877 | GRCh37: NC_000023.10:g.(?_1240319)_(1605584_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473609.1, VCV001808292.1 | 3 |