nsv3917356
- 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:456,509
- Description:GRCh38/hg38 22q12.3-13.1(chr22:37124249-37580757)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: 1423 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1424 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917356 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 37,124,249 | 37,580,757 |
| nsv3917356 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 37,520,289 | 37,976,764 |
| nsv3917356 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 35,850,235 | 36,306,710 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132104 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051123.4, VCV000057423.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132104 | Submitted genomic | NC_000022.11:g.(?_ 37124249)_(3758075 7_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 37,124,249 | 37,580,757 |
| nssv15132104 | Submitted genomic | NC_000022.10:g.(?_ 37520289)_(3797676 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 37,520,289 | 37,976,764 |
| nssv15132104 | Submitted genomic | NC_000022.9:g.(?_3 5850235)_(36306710 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 35,850,235 | 36,306,710 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132104 | GRCh37: NC_000022.10:g.(?_37520289)_(37976764_?)dup, GRCh38: NC_000022.11:g.(?_37124249)_(37580757_?)dup, NCBI36: NC_000022.9:g.(?_35850235)_(36306710_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000051123.4, VCV000057423.1 | 3 |