nsv6291509
- 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:204,951
- Description:GRCh37/hg19 18p11.32-11.31(chr18:2834474-3039424)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: 914 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 914 SVs from 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291509 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 2,834,476 | 3,039,426 |
| nsv6291509 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 2,834,474 | 3,039,424 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956204 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001832965.1, VCV001340171.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956204 | Remapped | Perfect | NC_000018.10:g.(?_ 2834476)_(3039426_ ?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 2,834,476 | 3,039,426 |
| nssv17956204 | Submitted genomic | NC_000018.9:g.(?_2 834474)_(3039424_? )dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 2,834,474 | 3,039,424 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956204 | GRCh37: NC_000018.9:g.(?_2834474)_(3039424_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001832965.1, VCV001340171.1 | 3 |