nsv3886124
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:13,308
- Description:c.(2140+1_2141-1)_(*2514_?)del AND Hypercholesterolemia, familial, 1
- Publication(s):ACMG Board of Directors et al. 2014, Civeira et al. 2004, Cuchel et al. 2014, Feldman et al. 2015, Goldberg et al. 2011, Green et al. 2013, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Mysliwiec et al. 2014, Rynkiewicz et al. 2013, Sullivan et al. 2012, Watts et al. 2013, Youngblom et al. 2014
- ClinVar: RCV000238194.1
- ClinVar: VCV000252240.1
- GeneReviews: NBK174884
- MONDO: 0007750
- MedGen: C0745103
- OMIM: 143890
- OMIM: 144400
- OMIM: 600946.0028
- Orphanet: 391665
- PubMed: 15177124
- PubMed: 21600525
- PubMed: 22364837
- PubMed: 23725921
- PubMed: 23788249
- PubMed: 24404629
- PubMed: 24418289
- PubMed: 24636176
- PubMed: 25053660
- PubMed: 25356965
- PubMed: 25404096
- PubMed: 27854360
- PubMed: 34012068
- PubMed: 35802134
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 128 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3886124 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 11,120,523 | 11,123,173 | 11,133,830 |
| nsv3886124 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 11,231,199 | 11,233,849 | 11,244,506 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15124506 | deletion | Multiple | Multiple | Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000238194.1, VCV000252240.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv15124506 | Remapped | Perfect | NC_000019.10:g.(11 120523_11123173)_( 11133830_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 11,120,523 | 11,123,173 | 11,133,830 |
| nssv15124506 | Submitted genomic | NC_000019.9:g.(112 31199_11233849)_(1 1244506_?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 11,231,199 | 11,233,849 | 11,244,506 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15124506 | GRCh37: NC_000019.9:g.(11231199_11233849)_(11244506_?)del | deletion | germline | Familial Hypercholesterolemia; Familial hypercholesterolemia; HYPERCHOLESTEROLEMIA, FAMILIAL; Homozygous familial hypercholesterolemia; MOVED TO 143890; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000238194.1, VCV000252240.1 |