nsv3900464
- 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:4,233,035
- Description:GRCh37/hg19 16p11.2(chr16:30738551-34194635)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: 15867 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 14347 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3900464 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 30,727,230 | 34,960,264 |
| nsv3900464 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 30,738,551 | 34,194,635 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15159642 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000739123.2, VCV000602487.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15159642 | Remapped | Pass | NC_000016.10:g.(?_ 30727230)_(3496026 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 30,727,230 | 34,960,264 |
| nssv15159642 | Submitted genomic | NC_000016.9:g.(?_3 0738551)_(34194635 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 30,738,551 | 34,194,635 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15159642 | GRCh37: NC_000016.9:g.(?_30738551)_(34194635_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000739123.2, VCV000602487.2 | 3 |