nsv3903749
- 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:242,409
- Description:GRCh37/hg19 17q21.2(chr17:38543535-38785943)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: 678 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 678 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3903749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 40,387,283 | 40,629,691 |
| nsv3903749 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 38,543,535 | 38,785,943 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15143189 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000511578.2, VCV000443255.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15143189 | Remapped | Perfect | NC_000017.11:g.(?_ 40387283)_(4062969 1_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 40,387,283 | 40,629,691 |
| nssv15143189 | Submitted genomic | NC_000017.10:g.(?_ 38543535)_(3878594 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 38,543,535 | 38,785,943 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15143189 | GRCh37: NC_000017.10:g.(?_38543535)_(38785943_?)dup | copy number gain | maternal | See cases | Likely benign | ClinVar | RCV000511578.2, VCV000443255.2 | 3 |