nsv6315406
- 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:61,270,368
- Description:GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)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: 164472 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 164254 SVs from 142 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315406 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 83,800,018 | 145,070,385 |
| nsv6315406 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 84,712,253 | 146,295,771 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977109 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002285066.1, VCV001706511.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17977109 | Remapped | Good | NC_000008.11:g.(83 800018_?)_(?_14507 0385)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 83,800,018 | 145,070,385 |
| nssv17977109 | Submitted genomic | NC_000008.10:g.(84 712253_?)_(?_14629 5771)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 84,712,253 | 146,295,771 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17977109 | GRCh37: NC_000008.10:g.(84712253_?)_(?_146295771)dup | copy number gain | unknown | See cases | Pathogenic | ClinVar | RCV002285066.1, VCV001706511.1 | 3 |