nsv4685709
- 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:4,723,583
- Description:GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)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: 10556 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 10556 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 135,615,550 | 140,339,132 |
| nsv4685709 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 135,936,688 | 140,660,269 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16216668 | copy number loss | Multiple | Multiple | not provided | not provided | ClinVar | RCV001249247.1, VCV000972948.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216668 | Remapped | Perfect | NC_000006.12:g.(?_ 135615550)_(140339 132_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 135,615,550 | 140,339,132 |
| nssv16216668 | Submitted genomic | NC_000006.11:g.(?_ 135936688)_(140660 269_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 135,936,688 | 140,660,269 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16216668 | GRCh37: NC_000006.11:g.(?_135936688)_(140660269_?)del | copy number loss | de novo | not provided | not provided | ClinVar | RCV001249247.1, VCV000972948.1 | 1 |