nsv3876229
- 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:21,055,932
- Description:GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 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: 53166 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 53318 SVs from 141 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3876229 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 119,813,787 | 140,869,718 |
| nsv3876229 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 120,571,363 | 141,627,287 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151837 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512348.2, VCV000441676.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151837 | Remapped | Perfect | NC_000002.12:g.(?_ 119813787)_(140869 718_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 119,813,787 | 140,869,718 |
| nssv15151837 | Submitted genomic | NC_000002.11:g.(?_ 120571363)_(141627 287_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 120,571,363 | 141,627,287 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151837 | GRCh37: NC_000002.11:g.(?_120571363)_(141627287_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000512348.2, VCV000441676.2 | 1 |