nsv6315165
- 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:12,809
- Description:GRCh37/hg19 1q21.3(chr1:151372064-151384872)x1 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: 187 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315165 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 151,399,588 | 151,412,396 |
| nsv6315165 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 151,372,064 | 151,384,872 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976680 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002275948.5, VCV001701130.6 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976680 | Remapped | Perfect | NC_000001.11:g.(?_ 151399588)_(151412 396_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 151,399,588 | 151,412,396 |
| nssv17976680 | Submitted genomic | NC_000001.10:g.(?_ 151372064)_(151384 872_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 151,372,064 | 151,384,872 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976680 | GRCh37: NC_000001.10:g.(?_151372064)_(151384872_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV002275948.5, VCV001701130.6 | 1 |