nsv4676279
- 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:1,995,473
- Description:GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 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: 9161 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 10060 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676279 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,611,044 | 24,606,516 |
| nsv4676279 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,953,514 | 25,002,483 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207470 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001007174.2, VCV000816209.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207470 | Remapped | Good | NC_000022.11:g.(?_ 22611044)_(2460651 6_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,611,044 | 24,606,516 |
| nssv16207470 | Submitted genomic | NC_000022.10:g.(?_ 22953514)_(2500248 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,953,514 | 25,002,483 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207470 | GRCh37: NC_000022.10:g.(?_22953514)_(25002483_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001007174.2, VCV000816209.2 | 3 |