nsv7093084
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:95
- Description:
NM_138295.5(PKD1L1):c.4150-32_4212del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 86 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7093084 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 47,858,823 | 47,858,917 |
| nsv7093084 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 47,898,421 | 47,898,515 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18786495 | deletion | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV002913993.1, VCV002046938.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18786495 | Submitted genomic | NC_000007.14:g.478 58823_47858917del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 47,858,823 | 47,858,917 |
| nssv18786495 | Submitted genomic | NC_000007.13:g.478 98421_47898515del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 47,898,421 | 47,898,515 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18786495 | GRCh37: NC_000007.13:g.47898421_47898515del, GRCh38: NC_000007.14:g.47858823_47858917del | deletion | germline | not provided | Likely pathogenic | ClinVar | RCV002913993.1, VCV002046938.1 |