nsv4675804
- 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:637,424
- Description:GRCh37/hg19 8p23.3(chr8:639795-1275384)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: 4708 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 4695 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675804 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 689,795 | 1,327,218 |
| nsv4675804 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 639,795 | 1,275,384 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206923 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001006046.1, VCV000815069.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206923 | Remapped | Good | NC_000008.11:g.(?_ 689795)_(1327218_? )dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 689,795 | 1,327,218 |
| nssv16206923 | Submitted genomic | NC_000008.10:g.(?_ 639795)_(1275384_? )dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 639,795 | 1,275,384 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206923 | GRCh37: NC_000008.10:g.(?_639795)_(1275384_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001006046.1, VCV000815069.1 | 3 |