nsv4685661
- 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:5,001,812
- Description:Single allele 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: 17882 SVs from 134 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: 20666 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685661 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,321,525 |
| nsv4685661 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1 | 4,542,614 |
| nsv4685661 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,833,416 | 28,566,671 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216735 | deletion | Multiple | Multiple | ANGELMAN SYNDROME; AS; Angelman Syndrome; Angelman syndrome; Angelman syndrome | Pathogenic | ClinVar | RCV001250750.1, VCV000974577.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216735 | 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 |
| nssv16216735 | Remapped | Pass | NC_000015.10:g.(?_ 23319714)_(2832152 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 28,321,525 |
| nssv16216735 | Submitted genomic | NC_000015.9:g.(?_2 2833416)_(28566671 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,833,416 | 28,566,671 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216735 | GRCh37: NC_000015.9:g.(?_22833416)_(28566671_?)del | deletion | germline | ANGELMAN SYNDROME; AS; Angelman Syndrome; Angelman syndrome; Angelman syndrome | Pathogenic | ClinVar | RCV001250750.1, VCV000974577.1 |