nsv6637923
- 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:2,521,142
- Description:GRCh37/hg19 22q11.1-11.21(chr22:16888900-18916828)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: 9255 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 8453 SVs from 129 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637923 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 16,408,174 | 18,929,315 |
| nsv6637923 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 16,888,900 | 18,916,828 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329565 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472499.1, VCV001807693.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329565 | Remapped | Pass | NC_000022.11:g.(?_ 16408174)_(1892931 5_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 16,408,174 | 18,929,315 |
| nssv18329565 | Submitted genomic | NC_000022.10:g.(?_ 16888900)_(1891682 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 16,888,900 | 18,916,828 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329565 | GRCh37: NC_000022.10:g.(?_16888900)_(18916828_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002472499.1, VCV001807693.1 | 3 |