nsv3920828
- 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:113,283
- Description:GRCh38/hg38 12q21.1(chr12:71355673-71468955)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: 383 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 383 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 116 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 |
|---|---|---|---|---|---|---|---|
| nsv3920828 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 71,355,673 | 71,468,955 |
| nsv3920828 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 71,749,453 | 71,862,735 |
| nsv3920828 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 70,035,720 | 70,149,002 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122924 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000141164.3, VCV000152629.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122924 | Submitted genomic | NC_000012.12:g.(?_ 71355673)_(7146895 5_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 71,355,673 | 71,468,955 |
| nssv15122924 | Submitted genomic | NC_000012.11:g.(?_ 71749453)_(7186273 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 71,749,453 | 71,862,735 |
| nssv15122924 | Submitted genomic | NC_000012.10:g.(?_ 70035720)_(7014900 2_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 70,035,720 | 70,149,002 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122924 | GRCh37: NC_000012.11:g.(?_71749453)_(71862735_?)dup, GRCh38: NC_000012.12:g.(?_71355673)_(71468955_?)dup, NCBI36: NC_000012.10:g.(?_70035720)_(70149002_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000141164.3, VCV000152629.1 | 3 |