nsv5564350
- 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:52
- Description:NM_001453.3(FOXC1):c.587_638del (p.Pro196fs) 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: 112 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5564350 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 1,611,031 | 1,611,082 |
| nsv5564350 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 1,611,266 | 1,611,317 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059472 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001354281.1, VCV001048885.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17059472 | Submitted genomic | NC_000006.12:g.161 1031_1611082del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 1,611,031 | 1,611,082 |
| nssv17059472 | Submitted genomic | NC_000006.11:g.161 1266_1611317del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 1,611,266 | 1,611,317 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17059472 | GRCh37: NC_000006.11:g.1611266_1611317del, GRCh38: NC_000006.12:g.1611031_1611082del | deletion | unknown | not provided | Uncertain significance | ClinVar | RCV001354281.1, VCV001048885.1 |