nsv4769383
- 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:2,588,954
- Description:GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 5815 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 5792 SVs from 103 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769383 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 106,803,806 | 109,392,759 |
| nsv4769383 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 107,197,584 | 109,830,564 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16297043 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001270637.4, VCV000988907.4 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16297043 | Remapped | Good | NC_000012.12:g.106 803806_109392759de l | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 106,803,806 | 109,392,759 |
| nssv16297043 | Submitted genomic | NC_000012.11:g.107 197584_109830564de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 107,197,584 | 109,830,564 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16297043 | GRCh37: NC_000012.11:g.107197584_109830564del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV001270637.4, VCV000988907.4 | 1 |