nsv3888870
- 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:693
- Description:GRCh37/hg19 3q22.1(chr3:133292746-133293438)x1 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: 93 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3888870 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 133,573,902 | 133,574,594 |
| nsv3888870 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 133,292,746 | 133,293,438 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15163925 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000742812.2, VCV000606176.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15163925 | Remapped | Perfect | NC_000003.12:g.(?_ 133573902)_(133574 594_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 133,573,902 | 133,574,594 |
| nssv15163925 | Submitted genomic | NC_000003.11:g.(?_ 133292746)_(133293 438_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 133,292,746 | 133,293,438 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15163925 | GRCh37: NC_000003.11:g.(?_133292746)_(133293438_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000742812.2, VCV000606176.2 | 1 |