nsv3881877
- 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:38,127
- Description:GRCh37/hg19 2q23.1(chr2:149201266-149239392) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 203 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3881877 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 148,443,697 | 148,481,823 |
| nsv3881877 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 149,201,266 | 149,239,392 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969779 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053251.3, VCV001526919.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969779 | Remapped | Perfect | NC_000002.12:g.(?_ 148443697)_(148481 823_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 148,443,697 | 148,481,823 |
| nssv17969779 | Submitted genomic | NC_000002.11:g.(?_ 149201266)_(149239 392_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 149,201,266 | 149,239,392 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969779 | GRCh37: NC_000002.11:g.(?_149201266)_(149239392_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053251.3, VCV001526919.3 |