nsv4453293
- 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:3,296,581
- Description:GRCh37/hg19 2q21.1-21.2(chr2:130916858-134213436)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: 9750 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 9899 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4453293 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 130,159,285 | 133,455,865 |
| nsv4453293 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 130,916,858 | 134,213,436 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774849 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846479.2, VCV000685771.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774849 | Remapped | Perfect | NC_000002.12:g.(?_ 130159285)_(133455 865_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 130,159,285 | 133,455,865 |
| nssv15774849 | Submitted genomic | NC_000002.11:g.(?_ 130916858)_(134213 436_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 130,916,858 | 134,213,436 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774849 | GRCh37: NC_000002.11:g.(?_130916858)_(134213436_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846479.2, VCV000685771.2 | 3 |