nsv6637156
- 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:55,423,042
- Description:GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)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: 130632 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 130650 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637156 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 116,901,461 | 172,324,502 |
| nsv6637156 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 116,620,308 | 172,042,292 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330760 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472621.1, VCV001807815.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330760 | Remapped | Good | NC_000003.12:g.(?_ 116901461)_(172324 502_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 116,901,461 | 172,324,502 |
| nssv18330760 | Submitted genomic | NC_000003.11:g.(?_ 116620308)_(172042 292_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 116,620,308 | 172,042,292 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330760 | GRCh37: NC_000003.11:g.(?_116620308)_(172042292_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV002472621.1, VCV001807815.1 | 3 |