nsv3881454
- 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:836
- Description:NC_000007.14:g.(?_100640680)_(100641515_?)del AND Hereditary hemochromatosis
- Publication(s):Barton et al. 2000, U.S. Preventive Services Task Force et al. 2006
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 109 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3881454 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 100,640,680 | 100,641,515 |
| nsv3881454 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 100,238,303 | 100,239,138 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15144708 | deletion | Multiple | Multiple | HEMOCHROMATOSIS, TYPE 1; HFE1; HFE Hemochromatosis; Hemochromatosis; Hereditary hemochromatosis | Pathogenic | ClinVar | RCV000708196.2, VCV000583971.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15144708 | Submitted genomic | NC_000007.14:g.(?_ 100640680)_(100641 515_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 100,640,680 | 100,641,515 |
| nssv15144708 | Submitted genomic | NC_000007.13:g.(?_ 100238303)_(100239 138_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,238,303 | 100,239,138 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15144708 | GRCh37: NC_000007.13:g.(?_100238303)_(100239138_?)del, GRCh38: NC_000007.14:g.(?_100640680)_(100641515_?)del | deletion | germline | HEMOCHROMATOSIS, TYPE 1; HFE1; HFE Hemochromatosis; Hemochromatosis; Hereditary hemochromatosis | Pathogenic | ClinVar | RCV000708196.2, VCV000583971.2 |