nsv6315393
- 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:155,984,839
- Description:GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 AND Klinefelter syndrome
- Publication(s):Dondorp et al. 2015, Frühmesser et al. 2011, Gregg et al. 2016
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 234744 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 233888 SVs from 119 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315393 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 11,545 | 155,996,383 |
| nsv6315393 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 61,545 | 155,226,048 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976801 | copy number gain | Multiple | Multiple | Klinefelter syndrome | Pathogenic | ClinVar | RCV002282732.1, VCV001704345.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976801 | Remapped | Good | NC_000023.11:g.(11 545_?)_(?_15599638 3)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 11,545 | 155,996,383 |
| nssv17976801 | Submitted genomic | NC_000023.10:g.(61 545_?)_(?_15522604 8)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 61,545 | 155,226,048 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976801 | GRCh37: NC_000023.10:g.(61545_?)_(?_155226048)dup | copy number gain | unknown | Klinefelter syndrome | Pathogenic | ClinVar | RCV002282732.1, VCV001704345.1 | 2 |