nsv3889814
- 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:170,444,751
- Description:GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)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: 464168 SVs from 153 studies. See in: genome view
Overlapping variant regions from other studies: 462515 SVs from 153 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3889814 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 165,632 | 170,610,382 |
| nsv3889814 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 165,632 | 170,919,470 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15168255 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000745404.2, VCV000608768.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15168255 | Remapped | Good | NC_000006.12:g.(?_ 165632)_(170610382 _?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 165,632 | 170,610,382 |
| nssv15168255 | Submitted genomic | NC_000006.11:g.(?_ 165632)_(170919470 _?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 165,632 | 170,919,470 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15168255 | GRCh37: NC_000006.11:g.(?_165632)_(170919470_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000745404.2, VCV000608768.2 | 3 |