nsv6291365
- 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:333,876
- Description:GRCh37/hg19 10q23.2(chr10:88639431-88973306)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: 1202 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1202 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291365 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 86,879,674 | 87,213,549 |
| nsv6291365 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 88,639,431 | 88,973,306 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957211 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001834488.1, VCV001341188.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957211 | Remapped | Perfect | NC_000010.11:g.(?_ 86879674)_(8721354 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 86,879,674 | 87,213,549 |
| nssv17957211 | Submitted genomic | NC_000010.10:g.(?_ 88639431)_(8897330 6_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 88,639,431 | 88,973,306 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957211 | GRCh37: NC_000010.10:g.(?_88639431)_(88973306_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001834488.1, VCV001341188.1 | 3 |