nsv3910529
- 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:2,782,337
- Description:GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)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: 7051 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 7054 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1606 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 |
|---|---|---|---|---|---|---|---|
| nsv3910529 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 53,420,606 | 56,202,942 |
| nsv3910529 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 53,814,390 | 56,596,726 |
| nsv3910529 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 52,100,657 | 54,882,993 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148920 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141435.4, VCV000152934.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148920 | Submitted genomic | NC_000012.12:g.(?_ 53420606)_(5620294 2_?)dup | GRCh38 (hg38) | NC_000012.12 | Chr12 | 53,420,606 | 56,202,942 |
| nssv15148920 | Submitted genomic | NC_000012.11:g.(?_ 53814390)_(5659672 6_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 53,814,390 | 56,596,726 |
| nssv15148920 | Submitted genomic | NC_000012.10:g.(?_ 52100657)_(5488299 3_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 52,100,657 | 54,882,993 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148920 | GRCh37: NC_000012.11:g.(?_53814390)_(56596726_?)dup, GRCh38: NC_000012.12:g.(?_53420606)_(56202942_?)dup, NCBI36: NC_000012.10:g.(?_52100657)_(54882993_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141435.4, VCV000152934.1 | 3 |