nsv6314163
- 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:377,194
- Description:GRCh37/hg19 18q12.1(chr18:29120408-29497601) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1033 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 1033 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314163 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 31,540,445 | 31,917,638 |
| nsv6314163 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 29,120,408 | 29,497,601 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969165 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052629.3, VCV001526610.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969165 | Remapped | Perfect | NC_000018.10:g.(?_ 31540445)_(3191763 8_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 31,540,445 | 31,917,638 |
| nssv17969165 | Submitted genomic | NC_000018.9:g.(?_2 9120408)_(29497601 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 29,120,408 | 29,497,601 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969165 | GRCh37: NC_000018.9:g.(?_29120408)_(29497601_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002052629.3, VCV001526610.3 |