nsv4346686
- 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:10,944,235
- Description:GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) 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: 23710 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 23709 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4346686 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 169,454,254 | 180,398,488 |
| nsv4346686 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 169,423,492 | 180,367,623 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606051 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767621.1, VCV000625613.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606051 | Remapped | Good | NC_000001.11:g.(?_ 169454254)_(180398 488_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 169,454,254 | 180,398,488 |
| nssv15606051 | Submitted genomic | NC_000001.10:g.(?_ 169423492)_(180367 623_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 169,423,492 | 180,367,623 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606051 | GRCh37: NC_000001.10:g.(?_169423492)_(180367623_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767621.1, VCV000625613.1 |