nsv7093363
- 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:20,879,770
- Description:GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)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: 58346 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 58336 SVs from 130 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7093363 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 820,000 | 21,699,769 |
| nsv7093363 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 820,000 | 21,700,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18786303 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002509885.1, VCV001810398.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18786303 | Remapped | Good | NC_000006.12:g.(82 0000_?)_(?_2169976 9)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 820,000 | 21,699,769 |
| nssv18786303 | Submitted genomic | NC_000006.11:g.(82 0000_?)_(?_2170000 0)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 820,000 | 21,700,000 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18786303 | GRCh37: NC_000006.11:g.(820000_?)_(?_21700000)dup | copy number gain | maternal | See cases | Pathogenic | ClinVar | RCV002509885.1, VCV001810398.1 | 3 |