nsv6313519
- 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:4,018,290
- Description:GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893) 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: 8279 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 8282 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313519 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 171,912,468 | 175,930,757 |
| nsv6313519 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 171,881,608 | 175,899,893 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970253 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053725.3, VCV001527393.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970253 | Remapped | Perfect | NC_000001.11:g.(?_ 171912468)_(175930 757_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 171,912,468 | 175,930,757 |
| nssv17970253 | Submitted genomic | NC_000001.10:g.(?_ 171881608)_(175899 893_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 171,881,608 | 175,899,893 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970253 | GRCh37: NC_000001.10:g.(?_171881608)_(175899893_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053725.3, VCV001527393.3 |