nsv3889455
- 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:13,980,146
- Description:GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)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: 34846 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 34850 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3889455 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 204,304,425 | 218,284,570 |
| nsv3889455 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 205,169,148 | 219,149,293 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15152823 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000682166.1, VCV000562677.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15152823 | Remapped | Perfect | NC_000002.12:g.(?_ 204304425)_(218284 570_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 204,304,425 | 218,284,570 |
| nssv15152823 | Submitted genomic | NC_000002.11:g.(?_ 205169148)_(219149 293_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 205,169,148 | 219,149,293 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15152823 | GRCh37: NC_000002.11:g.(?_205169148)_(219149293_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000682166.1, VCV000562677.1 | 3 |