nsv4675314
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:803,455
- Description:GRCh37/hg19 12q24.32-24.33(chr12:129014884-129818338)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: 3465 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 3465 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675314 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 128,530,339 | 129,333,793 |
| nsv4675314 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 129,014,884 | 129,818,338 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207632 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001007430.1, VCV000816505.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207632 | Remapped | Perfect | NC_000012.12:g.(?_ 128530339)_(129333 793_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 128,530,339 | 129,333,793 |
| nssv16207632 | Submitted genomic | NC_000012.11:g.(?_ 129014884)_(129818 338_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 129,014,884 | 129,818,338 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207632 | GRCh37: NC_000012.11:g.(?_129014884)_(129818338_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV001007430.1, VCV000816505.1 | 3 |