nsv6637429
- 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:26,103,264
- Description:GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)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: 79403 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 79402 SVs from 149 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637429 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 4,330,766 | 30,434,029 |
| nsv6637429 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 4,380,767 | 30,445,350 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330738 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472599.1, VCV001807793.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330738 | Remapped | Good | NC_000016.10:g.(?_ 4330766)_(30434029 _?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 4,330,766 | 30,434,029 |
| nssv18330738 | Submitted genomic | NC_000016.9:g.(?_4 380767)_(30445350_ ?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 4,380,767 | 30,445,350 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330738 | GRCh37: NC_000016.9:g.(?_4380767)_(30445350_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002472599.1, VCV001807793.1 | 3 |