nsv6636208
- 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:1,922,391
- Description:GRCh37/hg19 Xq13.3-21.1(chrX:74946710-76904755)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: 2349 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 2357 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636208 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 75,726,875 | 77,649,265 |
| nsv6636208 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 74,946,710 | 76,904,755 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18328924 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474910.1, VCV001809065.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18328924 | Remapped | Good | NC_000023.11:g.(?_ 75726875)_(7764926 5_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 75,726,875 | 77,649,265 |
| nssv18328924 | Submitted genomic | NC_000023.10:g.(?_ 74946710)_(7690475 5_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 74,946,710 | 76,904,755 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18328924 | GRCh37: NC_000023.10:g.(?_74946710)_(76904755_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002474910.1, VCV001809065.1 | 3 |