nsv3916632
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:22,883
- Description:GRCh38/hg38 22q11.1(chr22:16786503-16809385)x3 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: 274 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 287 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916632 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 16,786,503 | 16,809,385 |
| nsv3916632 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 17,267,393 | 17,290,275 |
| nsv3916632 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 15,647,393 | 15,670,275 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120850 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000134512.4, VCV000145110.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120850 | Submitted genomic | NC_000022.11:g.(?_ 16786503)_(1680938 5_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 16,786,503 | 16,809,385 |
| nssv15120850 | Submitted genomic | NC_000022.10:g.(?_ 17267393)_(1729027 5_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,267,393 | 17,290,275 |
| nssv15120850 | Submitted genomic | NC_000022.9:g.(?_1 5647393)_(15670275 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 15,647,393 | 15,670,275 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120850 | GRCh37: NC_000022.10:g.(?_17267393)_(17290275_?)dup, GRCh38: NC_000022.11:g.(?_16786503)_(16809385_?)dup, NCBI36: NC_000022.9:g.(?_15647393)_(15670275_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000134512.4, VCV000145110.1 | 3 |