nsv3914617
- 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:16,280,122
- Description:GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)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: 52923 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 53907 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 16218 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914617 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 20,907,226 | 37,187,347 |
| nsv3914617 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 21,261,514 | 37,583,387 |
| nsv3914617 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 19,591,514 | 35,913,333 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135998 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137926.5, VCV000148861.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135998 | Submitted genomic | NC_000022.11:g.(?_ 20907226)_(3718734 7_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 20,907,226 | 37,187,347 |
| nssv15135998 | Submitted genomic | NC_000022.10:g.(?_ 21261514)_(3758338 7_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 21,261,514 | 37,583,387 |
| nssv15135998 | Submitted genomic | NC_000022.9:g.(?_1 9591514)_(35913333 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 19,591,514 | 35,913,333 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135998 | GRCh37: NC_000022.10:g.(?_21261514)_(37583387_?)dup, GRCh38: NC_000022.11:g.(?_20907226)_(37187347_?)dup, NCBI36: NC_000022.9:g.(?_19591514)_(35913333_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000137926.5, VCV000148861.2 | 3 |