nsv4728619
- 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:1,749,822
- Description:GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3 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: 4854 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 4854 SVs from 100 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728619 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 36,205,310 | 37,955,131 |
| nsv4728619 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 36,432,453 | 38,182,274 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255217 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259149.1, VCV000979973.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255217 | Remapped | Perfect | NC_000002.12:g.(?_ 36205310)_(3795513 1_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 36,205,310 | 37,955,131 |
| nssv16255217 | Submitted genomic | NC_000002.11:g.(?_ 36432453)_(3818227 4_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 36,432,453 | 38,182,274 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255217 | GRCh37: NC_000002.11:g.(?_36432453)_(38182274_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259149.1, VCV000979973.1 | 3 |