nsv3913197
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,438,037
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 12286 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 12619 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 3804 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913197 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 16,916,608 | 20,354,644 |
| nsv3913197 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 17,397,498 | 20,708,934 |
| nsv3913197 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 15,777,498 | 19,038,934 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133055 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133786.4, VCV000144304.2 | 1 |
| nssv15133301 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133785.5, VCV000144303.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133055 | Submitted genomic | NC_000022.11:g.(?_ 16916608)_(2035464 4_?)del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 16,916,608 | 20,354,644 |
| nssv15133301 | Submitted genomic | NC_000022.11:g.(?_ 16916608)_(2035464 4_?)dup | GRCh38 (hg38) | NC_000022.11 | Chr22 | 16,916,608 | 20,354,644 |
| nssv15133055 | Submitted genomic | NC_000022.10:g.(?_ 17397498)_(2070893 4_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,397,498 | 20,708,934 |
| nssv15133301 | Submitted genomic | NC_000022.10:g.(?_ 17397498)_(2070893 4_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 17,397,498 | 20,708,934 |
| nssv15133055 | Submitted genomic | NC_000022.9:g.(?_1 5777498)_(19038934 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 15,777,498 | 19,038,934 |
| nssv15133301 | Submitted genomic | NC_000022.9:g.(?_1 5777498)_(19038934 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 15,777,498 | 19,038,934 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133055 | GRCh37: NC_000022.10:g.(?_17397498)_(20708934_?)del, GRCh38: NC_000022.11:g.(?_16916608)_(20354644_?)del, NCBI36: NC_000022.9:g.(?_15777498)_(19038934_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133786.4, VCV000144304.2 | 1 |
| nssv15133301 | GRCh37: NC_000022.10:g.(?_17397498)_(20708934_?)dup, GRCh38: NC_000022.11:g.(?_16916608)_(20354644_?)dup, NCBI36: NC_000022.9:g.(?_15777498)_(19038934_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000133785.5, VCV000144303.2 | 3 |