nsv6634344
- 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:7,031,710
- Description:GRCh37/hg19 Yp11.31-11.2(chrY:2650140-9651417)x1 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: 3763 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 3757 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634344 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000024.10 | ChrY | 2,782,099 | 9,813,808 |
| nsv6634344 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000024.9 | ChrY | 2,650,140 | 9,651,417 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326436 | copy number loss | Multiple | Multiple | Klinefelter syndrome | Pathogenic | ClinVar | RCV002287643.1, VCV001708270.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326436 | Remapped | Good | NC_000024.10:g.(27 82099_?)_(?_981380 8)del | GRCh38.p12 | First Pass | NC_000024.10 | ChrY | 2,782,099 | 9,813,808 |
| nssv18326436 | Submitted genomic | NC_000024.9:g.(265 0140_?)_(?_9651417 )del | GRCh37 (hg19) | NC_000024.9 | ChrY | 2,650,140 | 9,651,417 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18326436 | GRCh37: NC_000024.9:g.(2650140_?)_(?_9651417)del | copy number loss | unknown | Klinefelter syndrome | Pathogenic | ClinVar | RCV002287643.1, VCV001708270.1 | 1 |