nsv5564339
- 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:722,203
- Description:NC_000002.11:g.(?_73114549)_(73836749_?)dup AND Alstrom syndrome
- Publication(s):Marshall et al. 2011, Paisey et al. 2003, 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: 1435 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1437 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564339 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 72,887,420 | 73,609,622 |
| nsv5564339 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 73,114,549 | 73,836,749 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059508 | duplication | Multiple | Multiple | ALSTROM SYNDROME; ALMS; Alstrom syndrome; Alström Syndrome; Alström syndrome | Uncertain significance | ClinVar | RCV001365067.2, VCV001056266.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059508 | Remapped | Perfect | NC_000002.12:g.(?_ 72887420)_(7360962 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 72,887,420 | 73,609,622 |
| nssv17059508 | Submitted genomic | NC_000002.11:g.(?_ 73114549)_(7383674 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 73,114,549 | 73,836,749 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059508 | GRCh37: NC_000002.11:g.(?_73114549)_(73836749_?)dup | duplication | germline | ALSTROM SYNDROME; ALMS; Alstrom syndrome; Alström Syndrome; Alström syndrome | Uncertain significance | ClinVar | RCV001365067.2, VCV001056266.2 |