nsv3876037
- 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:45,683,249
- Description:GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) 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: 110318 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 110356 SVs from 139 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3876037 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 168,973,464 | 214,656,712 |
| nsv3876037 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 169,829,974 | 215,521,436 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969793 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053265.3, VCV001526933.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969793 | Remapped | Good | NC_000002.12:g.(?_ 168973464)_(214656 712_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 168,973,464 | 214,656,712 |
| nssv17969793 | Submitted genomic | NC_000002.11:g.(?_ 169829974)_(215521 436_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 169,829,974 | 215,521,436 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969793 | GRCh37: NC_000002.11:g.(?_169829974)_(215521436_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053265.3, VCV001526933.3 |