nsv3914427
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:37,427,342
- Description:NCBI36/hg18 12p13.33-q11(chr12:18636-34652244)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: 108416 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 107220 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 29916 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3914427 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 43,334 | 37,470,675 | 37,470,675 |
| nsv3914427 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 148,375 | 37,864,477 | 37,864,477 |
| nsv3914427 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 18,636 | 34,652,244 | 36,150,744 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15129039 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000453944.2, VCV000399094.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv15129039 | Remapped | Good | NC_000012.12:g.(?_ 43334)_(37470675_3 7470675)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 43,334 | 37,470,675 | 37,470,675 |
| nssv15129039 | Remapped | Good | NC_000012.11:g.(?_ 148375)_(37864477_ 37864477)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 148,375 | 37,864,477 | 37,864,477 |
| nssv15129039 | Submitted genomic | NC_000012.10:g.(?_ 18636)_(34652244_3 6150744)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 18,636 | 34,652,244 | 36,150,744 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15129039 | NCBI36: NC_000012.10:g.(?_18636)_(34652244_36150744)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000453944.2, VCV000399094.2 | 3 |