nsv6313663
- 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:15,102,062
- Description:GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473) 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: 58511 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 58521 SVs from 139 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313663 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 174,934,257 | 190,036,318 |
| nsv6313663 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 175,855,408 | 190,957,473 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969999 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053471.3, VCV001527139.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969999 | Remapped | Perfect | NC_000004.12:g.(?_ 174934257)_(190036 318_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 174,934,257 | 190,036,318 |
| nssv17969999 | Submitted genomic | NC_000004.11:g.(?_ 175855408)_(190957 473_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 175,855,408 | 190,957,473 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969999 | GRCh37: NC_000004.11:g.(?_175855408)_(190957473_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053471.3, VCV001527139.3 |