nsv6313678
- 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:15,017,874
- Description:GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 34245 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 34248 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313678 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 145,769,173 | 160,787,046 |
| nsv6313678 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 145,486,960 | 160,504,834 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969903 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053375.3, VCV001527043.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969903 | Remapped | Perfect | NC_000003.12:g.(?_ 145769173)_(160787 046_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 145,769,173 | 160,787,046 |
| nssv17969903 | Submitted genomic | NC_000003.11:g.(?_ 145486960)_(160504 834_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 145,486,960 | 160,504,834 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969903 | GRCh37: NC_000003.11:g.(?_145486960)_(160504834_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053375.3, VCV001527043.3 |