nsv3877119
- 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:34,019
- Description:NC_000002.12:g.(?_21001710)_(21035728_?)del AND multiple conditions
- Publication(s):Burnett et al. 2021, Miller et al. 2021, Miller et al. 2022, Youngblom et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 118 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3877119 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 21,001,710 | 21,035,728 |
| nsv3877119 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 21,224,582 | 21,258,600 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17956464 | deletion | Multiple | Multiple | APOB-Related Familial Hypobetalipoproteinemia; Familial Hypercholesterolemia; HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B; HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1; Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 | Pathogenic | ClinVar | RCV001838077.7, VCV000544130.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv17956464 | Submitted genomic | NC_000002.12:g.(?_ 21001710)_(2103572 8_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 21,001,710 | 21,035,728 |
| nssv17956464 | Submitted genomic | NC_000002.11:g.(?_ 21224582)_(2125860 0_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 21,224,582 | 21,258,600 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17956464 | GRCh37: NC_000002.11:g.(?_21224582)_(21258600_?)del, GRCh38: NC_000002.12:g.(?_21001710)_(21035728_?)del | deletion | germline | APOB-Related Familial Hypobetalipoproteinemia; Familial Hypercholesterolemia; HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B; HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1; Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 | Pathogenic | ClinVar | RCV001838077.7, VCV000544130.3 |