nsv3904443
- 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:1,671,804
- Description:GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)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: 5274 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 5275 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3904443 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 36,481,179 | 38,152,982 |
| nsv3904443 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 36,877,226 | 38,548,989 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151200 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512008.2, VCV000442145.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151200 | Remapped | Good | NC_000022.11:g.(?_ 36481179)_(3815298 2_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 36,481,179 | 38,152,982 |
| nssv15151200 | Submitted genomic | NC_000022.10:g.(?_ 36877226)_(3854898 9_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 36,877,226 | 38,548,989 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151200 | GRCh37: NC_000022.10:g.(?_36877226)_(38548989_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000512008.2, VCV000442145.2 | 1 |