nsv4676021
- 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:247,339
- Description:GRCh37/hg19 9q33.3(chr9:129137576-129384914)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: 531 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 531 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676021 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 126,375,297 | 126,622,635 |
| nsv4676021 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 129,137,576 | 129,384,914 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207027 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006272.1, VCV000815295.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207027 | Remapped | Perfect | NC_000009.12:g.(?_ 126375297)_(126622 635_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 126,375,297 | 126,622,635 |
| nssv16207027 | Submitted genomic | NC_000009.11:g.(?_ 129137576)_(129384 914_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 129,137,576 | 129,384,914 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207027 | GRCh37: NC_000009.11:g.(?_129137576)_(129384914_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006272.1, VCV000815295.1 | 3 |