nsv4452826
- 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:4,731,022
- Description:GRCh37/hg19 2q21.2-22.1(chr2:133457177-138188195)x1 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: 10519 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 10519 SVs from 115 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4452826 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 132,699,604 | 137,430,625 |
| nsv4452826 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 133,457,177 | 138,188,195 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772186 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846930.2, VCV000686222.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772186 | Remapped | Perfect | NC_000002.12:g.(?_ 132699604)_(137430 625_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 132,699,604 | 137,430,625 |
| nssv15772186 | Submitted genomic | NC_000002.11:g.(?_ 133457177)_(138188 195_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 133,457,177 | 138,188,195 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772186 | GRCh37: NC_000002.11:g.(?_133457177)_(138188195_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846930.2, VCV000686222.2 | 1 |