nsv4729182
- 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:1,031,024
- Description:GRCh37/hg19 10q22.3-23.1(chr10:81028088-82059110)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: 3033 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3104 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729182 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 79,268,331 | 80,299,354 |
| nsv4729182 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 81,028,088 | 82,059,110 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16253901 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258449.1, VCV000979273.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253901 | Remapped | Perfect | NC_000010.11:g.(?_ 79268331)_(8029935 4_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 79,268,331 | 80,299,354 |
| nssv16253901 | Submitted genomic | NC_000010.10:g.(?_ 81028088)_(8205911 0_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 81,028,088 | 82,059,110 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16253901 | GRCh37: NC_000010.10:g.(?_81028088)_(82059110_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258449.1, VCV000979273.1 | 3 |