nsv3897974
- 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:3,378,467
- Description:GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)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: 14779 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 15728 SVs from 143 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3897974 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 21,111,372 | 24,489,838 |
| nsv3897974 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 21,465,661 | 24,885,806 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15156365 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000684520.1, VCV000565045.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15156365 | Remapped | Good | NC_000022.11:g.(?_ 21111372)_(2448983 8_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 21,111,372 | 24,489,838 |
| nssv15156365 | Submitted genomic | NC_000022.10:g.(?_ 21465661)_(2488580 6_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 21,465,661 | 24,885,806 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15156365 | GRCh37: NC_000022.10:g.(?_21465661)_(24885806_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV000684520.1, VCV000565045.1 | 1 |