nsv3885951
- 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:1,712
- Description:GRCh37/hg19 2q33.3(chr2:206128178-206129889)x0 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 142 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3885951 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 205,263,454 | 205,265,165 |
| nsv3885951 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 206,128,178 | 206,129,889 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15162304 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000740852.2, VCV000604216.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15162304 | Remapped | Perfect | NC_000002.12:g.(?_ 205263454)_(205265 165_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 205,263,454 | 205,265,165 |
| nssv15162304 | Submitted genomic | NC_000002.11:g.(?_ 206128178)_(206129 889_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 206,128,178 | 206,129,889 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15162304 | GRCh37: NC_000002.11:g.(?_206128178)_(206129889_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000740852.2, VCV000604216.2 | 0 |