nsv6637941
- 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:269,626
- Description:GRCh37/hg19 18q12.1(chr18:29152719-29422344)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: 751 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 751 SVs from 56 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637941 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 31,572,756 | 31,842,381 |
| nsv6637941 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 29,152,719 | 29,422,344 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329392 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002475869.1, VCV001809496.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329392 | Remapped | Perfect | NC_000018.10:g.(?_ 31572756)_(3184238 1_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 31,572,756 | 31,842,381 |
| nssv18329392 | Submitted genomic | NC_000018.9:g.(?_2 9152719)_(29422344 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 29,152,719 | 29,422,344 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329392 | GRCh37: NC_000018.9:g.(?_29152719)_(29422344_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002475869.1, VCV001809496.1 | 3 |