nsv6315542
- 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:6,774,483
- Description:GRCh37/hg19 15q11.2-13.2(chr15:23285775-30386399) AND Angelman syndrome
- Publication(s):Dagli et al. 1998, Del Gaudio et al. 2020, Dondorp et al. 2015, Gregg et al. 2016, Schaefer et al. 2013
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 22242 SVs from 139 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: 22988 SVs from 141 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315542 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 30,094,196 |
| nsv6315542 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nsv6315542 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 23,285,775 | 30,386,399 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976860 | copy number loss | Multiple | Multiple | ANGELMAN SYNDROME; AS; Angelman Syndrome; Angelman syndrome; Angelman syndrome | Pathogenic | ClinVar | RCV002280759.1, VCV001703671.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976860 | 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 |
| nssv17976860 | Remapped | Good | NC_000015.10:g.(?_ 23319714)_(3009419 6_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 30,094,196 |
| nssv17976860 | Submitted genomic | NC_000015.9:g.(?_2 3285775)_(30386399 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 23,285,775 | 30,386,399 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976860 | GRCh37: NC_000015.9:g.(?_23285775)_(30386399_?)del | copy number loss | unknown | ANGELMAN SYNDROME; AS; Angelman Syndrome; Angelman syndrome; Angelman syndrome | Pathogenic | ClinVar | RCV002280759.1, VCV001703671.1 |