nsv6290630
- 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:277,035
- Description:GRCh37/hg19 1q42.13(chr1:228439893-228716927)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: 826 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 827 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290630 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 228,252,192 | 228,529,226 |
| nsv6290630 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 228,439,893 | 228,716,927 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956423 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001836583.1, VCV001341048.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956423 | Remapped | Perfect | NC_000001.11:g.(?_ 228252192)_(228529 226_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 228,252,192 | 228,529,226 |
| nssv17956423 | Submitted genomic | NC_000001.10:g.(?_ 228439893)_(228716 927_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 228,439,893 | 228,716,927 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956423 | GRCh37: NC_000001.10:g.(?_228439893)_(228716927_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV001836583.1, VCV001341048.1 | 3 |