nsv6315485
- 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:5,070,199
- Description:GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) AND Prader-Willi syndrome
- Publication(s):August et al. 2008, Del Gaudio et al. 2020, Dondorp et al. 2015, Driscoll et al. 1998, McCandless et al. 2010, Schaefer et al. 2013, Styne et al. 2017
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 17961 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 7090 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 21455 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315485 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,389,912 |
| nsv6315485 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nsv6315485 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,770,421 | 28,635,058 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976976 | copy number loss | Multiple | Multiple | PRADER-WILLI SYNDROME; PWS; Prader-Willi Syndrome; Prader-Willi syndrome; Prader-Willi syndrome | Pathogenic | ClinVar | RCV002280643.1, VCV001703557.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976976 | Remapped | Pass | NW_011332701.1:g.( ?_1)_(4542614_?)de l | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nssv17976976 | Remapped | Pass | NC_000015.10:g.(?_ 23319714)_(2838991 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,389,912 |
| nssv17976976 | Submitted genomic | NC_000015.9:g.(?_2 2770421)_(28635058 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,770,421 | 28,635,058 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976976 | GRCh37: NC_000015.9:g.(?_22770421)_(28635058_?)del | copy number loss | unknown | PRADER-WILLI SYNDROME; PWS; Prader-Willi Syndrome; Prader-Willi syndrome; Prader-Willi syndrome | Pathogenic | ClinVar | RCV002280643.1, VCV001703557.1 |