nsv3883980
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,383
- Description:NC_000022.11:g.(?_42126499)_(42130881_?)dup AND Codeine response
- Publication(s):Crews et al. 2011, Crews et al. 2014, Crews et al. 2021, Desmeules et al. 1991, Gasche et al. 2004, Koren et al. 2006, Madadi et al. 2013, No authors et al. 2018, Swen et al. 2011, Yue et al. 1997
- ClinVar: RCV000030944.27
- ClinVar: VCV000016896.1
- MedGen: C1837160
- OMIM: 124030.0008
- PubMed: 15625333
- PubMed: 16920476
- PubMed: 1782973
- PubMed: 21412232
- PubMed: 22205192
- PubMed: 24214521
- PubMed: 24458010
- PubMed: 29781876
- PubMed: 33387367
- PubMed: 9357098
- dbVar: nssv7487166
- dbVar: nsv1197529
- 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: 93 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 273 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3883980 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 42,126,499 | 42,130,881 | ||
| nsv3883980 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000022.10 | Chr22 | 42,522,501 | 42,526,883 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15119769 | duplication | Multiple | Multiple | Codeine response | drug response | ClinVar | RCV000030944.27, VCV000016896.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15119769 | Submitted genomic | NC_000022.11:g.(?_ 42126499)_(4213088 1_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 42,126,499 | 42,130,881 | ||
| nssv15119769 | Remapped | Perfect | NC_000022.10:g.(?_ 42522501)_(4252688 3_?)dup | GRCh37.p13 | Second Pass | NC_000022.10 | Chr22 | 42,522,501 | 42,526,883 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15119769 | GRCh38: NC_000022.11:g.(?_42126499)_(42130881_?)dup | duplication | germline | Codeine response | drug response | ClinVar | RCV000030944.27, VCV000016896.1 |