nsv5380778
- 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:155,896
- Description:NC_000016.9:g.(?_15795992)_(15951887_?)dup AND Aortic aneurysm, familial thoracic 4
- Publication(s):ACMG Board of Directors et al. 2014, Boodhwani et al. 2014, Erbel et al. 2014, Green et al. 2013, Kalia et al. 2016, Milewicz et al. 2003, Miller et al. 2021, Miller et al. 2022
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 860 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 681 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 860 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5380778 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,702,135 | 15,858,030 |
| nsv5380778 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,360,146 | 1,516,022 |
| nsv5380778 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,795,992 | 15,951,887 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16866745 | duplication | Multiple | Multiple | AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4; Aortic aneurysm, familial thoracic 4 | Uncertain significance | ClinVar | RCV001319099.4, VCV001019639.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16866745 | Remapped | Good | NT_187607.1:g.(?_1 360146)_(1516022_? )dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,360,146 | 1,516,022 |
| nssv16866745 | Remapped | Perfect | NC_000016.10:g.(?_ 15702135)_(1585803 0_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,702,135 | 15,858,030 |
| nssv16866745 | Submitted genomic | NC_000016.9:g.(?_1 5795992)_(15951887 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,795,992 | 15,951,887 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16866745 | GRCh37: NC_000016.9:g.(?_15795992)_(15951887_?)dup | duplication | germline | AORTIC ANEURYSM, FAMILIAL THORACIC 4; AAT4; Aortic aneurysm, familial thoracic 4 | Uncertain significance | ClinVar | RCV001319099.4, VCV001019639.4 |