nsv4674889
- 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:365,404
- Description:GRCh37/hg19 8q24.3(chr8:143728492-144093928)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: 1371 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1379 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674889 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 142,647,108 | 143,012,511 |
| nsv4674889 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 143,728,492 | 144,093,928 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206980 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006153.1, VCV000815176.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206980 | Remapped | Good | NC_000008.11:g.(?_ 142647108)_(143012 511_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 142,647,108 | 143,012,511 |
| nssv16206980 | Submitted genomic | NC_000008.10:g.(?_ 143728492)_(144093 928_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 143,728,492 | 144,093,928 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206980 | GRCh37: NC_000008.10:g.(?_143728492)_(144093928_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006153.1, VCV000815176.1 | 3 |