nsv7148242
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,996,744
- Description:GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1 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: 24154 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 23776 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148242 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 20,966,971 | 25,963,714 | ||
| nsv7148242 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 21,172,300 | 26,208,861 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18841918 | copy number loss | Multiple | Multiple | ANGELMAN SYNDROME; AS; Angelman Syndrome; Angelman syndrome; Angelman syndrome | Pathogenic | ClinVar | RCV003327724.1, VCV002579285.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841918 | Submitted genomic | NC_000015.10:g.209 66971_25963714del | GRCh38 (hg38) | NC_000015.10 | Chr15 | 20,966,971 | 25,963,714 | ||
| nssv18841918 | Remapped | Good | NC_000015.9:g.2117 2300_26208861del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 21,172,300 | 26,208,861 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18841918 | GRCh38: NC_000015.10:g.20966971_25963714del | copy number loss | de novo | ANGELMAN SYNDROME; AS; Angelman Syndrome; Angelman syndrome; Angelman syndrome | Pathogenic | ClinVar | RCV003327724.1, VCV002579285.1 | 1 |