nsv3905626
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:17,125,540
- Description:GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 47997 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 47997 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 12852 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905626 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 40,738,282 | 57,863,821 |
| nsv3905626 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 40,965,422 | 58,090,956 |
| nsv3905626 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 40,818,926 | 57,944,460 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133183 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052943.6, VCV000059143.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133183 | Submitted genomic | NC_000002.12:g.(?_ 40738282)_(5786382 1_?)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 40,738,282 | 57,863,821 |
| nssv15133183 | Submitted genomic | NC_000002.11:g.(?_ 40965422)_(5809095 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 40,965,422 | 58,090,956 |
| nssv15133183 | Submitted genomic | NC_000002.10:g.(?_ 40818926)_(5794446 0_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 40,818,926 | 57,944,460 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133183 | GRCh37: NC_000002.11:g.(?_40965422)_(58090956_?)dup, GRCh38: NC_000002.12:g.(?_40738282)_(57863821_?)dup, NCBI36: NC_000002.10:g.(?_40818926)_(57944460_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052943.6, VCV000059143.1 | 3 |