nsv4457643
- 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:641,185
- Description:GRCh37/hg19 17q21.32-21.33(chr17:46899690-47540874)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: 2431 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2431 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457643 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 48,822,328 | 49,463,512 |
| nsv4457643 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 46,899,690 | 47,540,874 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773372 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849505.2, VCV000688814.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773372 | Remapped | Perfect | NC_000017.11:g.(?_ 48822328)_(4946351 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 48,822,328 | 49,463,512 |
| nssv15773372 | Submitted genomic | NC_000017.10:g.(?_ 46899690)_(4754087 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 46,899,690 | 47,540,874 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773372 | GRCh37: NC_000017.10:g.(?_46899690)_(47540874_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849505.2, VCV000688814.2 | 3 |