nsv3886705
- 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:88,649
- Description:GRCh37/hg19 6p25.3(chr6:1875823-1964471)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: 411 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3886705 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 1,875,589 | 1,964,237 |
| nsv3886705 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 1,875,823 | 1,964,471 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15154411 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000682634.1, VCV000563145.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15154411 | Remapped | Perfect | NC_000006.12:g.(?_ 1875589)_(1964237_ ?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 1,875,589 | 1,964,237 |
| nssv15154411 | Submitted genomic | NC_000006.11:g.(?_ 1875823)_(1964471_ ?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 1,875,823 | 1,964,471 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15154411 | GRCh37: NC_000006.11:g.(?_1875823)_(1964471_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV000682634.1, VCV000563145.1 | 1 |