nsv4676239
- 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:1,056,628
- Description:GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2604 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 2581 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676239 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 54,276,417 | 55,333,044 |
| nsv4676239 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 51,802,787 | 53,000,275 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207630 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001007426.1, VCV000816501.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207630 | Remapped | Pass | NC_000018.10:g.(?_ 54276417)_(5533304 4_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 54,276,417 | 55,333,044 |
| nssv16207630 | Submitted genomic | NC_000018.9:g.(?_5 1802787)_(53000275 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 51,802,787 | 53,000,275 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207630 | GRCh37: NC_000018.9:g.(?_51802787)_(53000275_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV001007426.1, VCV000816501.1 | 3 |