nsv5980383
- 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:147
- Description:
NM_004514.4(FOXK2):c.1576+55_1576+201del 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: 160 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 160 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5980383 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 82,586,194 | 82,586,340 |
| nsv5980383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 80,544,070 | 80,544,216 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17517536 | deletion | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001484218.4, VCV001145377.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17517536 | Submitted genomic | NC_000017.11:g.825 86194_82586340del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 82,586,194 | 82,586,340 |
| nssv17517536 | Submitted genomic | NC_000017.10:g.805 44070_80544216del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 80,544,070 | 80,544,216 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17517536 | GRCh37: NC_000017.10:g.80544070_80544216del, GRCh38: NC_000017.11:g.82586194_82586340del | deletion | germline | not provided | Likely benign | ClinVar | RCV001484218.4, VCV001145377.4 |