nsv6291059
- 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:91,275
- Description:GRCh37/hg19 3q13.13(chr3:108845259-108936533)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: 314 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 314 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291059 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 109,126,412 | 109,217,686 |
| nsv6291059 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 108,845,259 | 108,936,533 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957457 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001827664.1, VCV001340123.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957457 | Remapped | Perfect | NC_000003.12:g.(?_ 109126412)_(109217 686_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 109,126,412 | 109,217,686 |
| nssv17957457 | Submitted genomic | NC_000003.11:g.(?_ 108845259)_(108936 533_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 108,845,259 | 108,936,533 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957457 | GRCh37: NC_000003.11:g.(?_108845259)_(108936533_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001827664.1, VCV001340123.1 | 1 |