nsv6636090
- 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:2,493,684
- Description:GRCh37/hg19 Xp22.33(chrX:201705-2696762)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: 15230 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 14665 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636090 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 285,038 | 2,778,721 |
| nsv6636090 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 201,705 | 2,696,762 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330262 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474522.1, VCV001808677.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330262 | Remapped | Good | NC_000023.11:g.(?_ 285038)_(2778721_? )dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 285,038 | 2,778,721 |
| nssv18330262 | Submitted genomic | NC_000023.10:g.(?_ 201705)_(2696762_? )dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 201,705 | 2,696,762 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330262 | GRCh37: NC_000023.10:g.(?_201705)_(2696762_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002474522.1, VCV001808677.1 | 3 |