nsv3914700
- 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:142,676
- Description:GRCh38/hg38 12q24.12(chr12:111724654-111867329)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: 544 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 544 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 96 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914700 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 111,724,654 | 111,867,329 |
| nsv3914700 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 112,162,458 | 112,305,133 |
| nsv3914700 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 110,646,841 | 110,789,516 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134847 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000136802.4, VCV000147639.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134847 | Submitted genomic | NC_000012.12:g.(?_ 111724654)_(111867 329_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 111,724,654 | 111,867,329 |
| nssv15134847 | Submitted genomic | NC_000012.11:g.(?_ 112162458)_(112305 133_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 112,162,458 | 112,305,133 |
| nssv15134847 | Submitted genomic | NC_000012.10:g.(?_ 110646841)_(110789 516_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 110,646,841 | 110,789,516 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134847 | GRCh37: NC_000012.11:g.(?_112162458)_(112305133_?)dup, GRCh38: NC_000012.12:g.(?_111724654)_(111867329_?)dup, NCBI36: NC_000012.10:g.(?_110646841)_(110789516_?)dup | copy number gain | tested-inconclusive | See cases | Benign | ClinVar | RCV000136802.4, VCV000147639.2 | 3 |