nsv3907644
- 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:3,688,072
- Description:GRCh37/hg19 11p13-12(chr11:35126357-38814431)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9396 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 9402 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3907644 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 35,104,810 | 38,792,881 |
| nsv3907644 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 35,126,357 | 38,814,431 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15141442 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000510326.2, VCV000443176.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15141442 | Remapped | Perfect | NC_000011.10:g.(?_ 35104810)_(3879288 1_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 35,104,810 | 38,792,881 |
| nssv15141442 | Submitted genomic | NC_000011.9:g.(?_3 5126357)_(38814431 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 35,126,357 | 38,814,431 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15141442 | GRCh37: NC_000011.9:g.(?_35126357)_(38814431_?)del | copy number loss | maternal | See cases | Uncertain significance | ClinVar | RCV000510326.2, VCV000443176.2 | 1 |