nsv3885195
- 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:396,345
- Description:NC_000016.10:g.(?_15788690)_(16185034_?)del AND Pseudoxanthoma elasticum
- Publication(s):Terry et al. 2001
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2018 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 2018 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885195 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 15,788,690 | 16,185,034 | ||
| nsv3885195 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 15,882,547 | 16,278,891 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15130766 | deletion | Multiple | Multiple | PSEUDOXANTHOMA ELASTICUM; PXE; Pseudoxanthoma Elasticum; Pseudoxanthoma elasticum; Pseudoxanthoma elasticum | Pathogenic | ClinVar | RCV000512639.1, VCV000444012.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15130766 | Submitted genomic | NC_000016.10:g.(?_ 15788690)_(1618503 4_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 15,788,690 | 16,185,034 | ||
| nssv15130766 | Remapped | Perfect | NC_000016.9:g.(?_1 5882547)_(16278891 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 15,882,547 | 16,278,891 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15130766 | GRCh38: NC_000016.10:g.(?_15788690)_(16185034_?)del | deletion | germline | PSEUDOXANTHOMA ELASTICUM; PXE; Pseudoxanthoma Elasticum; Pseudoxanthoma elasticum; Pseudoxanthoma elasticum | Pathogenic | ClinVar | RCV000512639.1, VCV000444012.1 |