nsv6291414
- 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:117,900
- Description:GRCh37/hg19 11p15.4(chr11:4781648-4899547)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: 402 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291414 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 4,760,418 | 4,878,317 |
| nsv6291414 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 4,781,648 | 4,899,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956889 | copy number loss | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV001829181.1, VCV001341154.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956889 | Remapped | Perfect | NC_000011.10:g.(?_ 4760418)_(4878317_ ?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 4,760,418 | 4,878,317 |
| nssv17956889 | Submitted genomic | NC_000011.9:g.(?_4 781648)_(4899547_? )del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 4,781,648 | 4,899,547 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956889 | GRCh37: NC_000011.9:g.(?_4781648)_(4899547_?)del | copy number loss | germline | not provided | Likely benign | ClinVar | RCV001829181.1, VCV001341154.1 | 1 |