nsv4349272
- 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:1,072,451
- Description:GRCh37/hg19 17q11.2(chr17:29111368-30183819) 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: 3224 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3225 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349272 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 30,784,350 | 31,856,800 |
| nsv4349272 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 29,111,368 | 30,183,819 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605915 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767739.1, VCV000625731.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605915 | Remapped | Perfect | NC_000017.11:g.(?_ 30784350)_(3185680 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 30,784,350 | 31,856,800 |
| nssv15605915 | Submitted genomic | NC_000017.10:g.(?_ 29111368)_(3018381 9_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 29,111,368 | 30,183,819 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605915 | GRCh37: NC_000017.10:g.(?_29111368)_(30183819_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767739.1, VCV000625731.1 |