nsv6637457
- 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:284,693
- Description:GRCh37/hg19 10q23.2(chr10:88578693-88863385)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: 1082 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1082 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637457 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 86,818,936 | 87,103,628 |
| nsv6637457 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 88,578,693 | 88,863,385 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329165 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475642.1, VCV001809269.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329165 | Remapped | Perfect | NC_000010.11:g.(?_ 86818936)_(8710362 8_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 86,818,936 | 87,103,628 |
| nssv18329165 | Submitted genomic | NC_000010.10:g.(?_ 88578693)_(8886338 5_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 88,578,693 | 88,863,385 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329165 | GRCh37: NC_000010.10:g.(?_88578693)_(88863385_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002475642.1, VCV001809269.1 | 3 |