nsv3919881
- 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:33,823,043
- Description:GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)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: 115977 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 117454 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 31906 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 |
|---|---|---|---|---|---|---|---|
| nsv3919881 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 16,916,743 | 50,739,785 |
| nsv3919881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 17,397,633 | 51,178,213 |
| nsv3919881 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 15,777,633 | 49,525,079 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147269 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134730.6, VCV000145336.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147269 | Submitted genomic | NC_000022.11:g.(?_ 16916743)_(5073978 5_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 16,916,743 | 50,739,785 |
| nssv15147269 | Submitted genomic | NC_000022.10:g.(?_ 17397633)_(5117821 3_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,397,633 | 51,178,213 |
| nssv15147269 | Submitted genomic | NC_000022.9:g.(?_1 5777633)_(49525079 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 15,777,633 | 49,525,079 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147269 | GRCh37: NC_000022.10:g.(?_17397633)_(51178213_?)dup, GRCh38: NC_000022.11:g.(?_16916743)_(50739785_?)dup, NCBI36: NC_000022.9:g.(?_15777633)_(49525079_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134730.6, VCV000145336.2 | 3 |