nsv4682533
- 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:2,161
- Description:NC_000011.10:g.(?_119091400)_(119093560_?)del 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: 78 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 77 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4682533 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 119,091,400 | 119,093,560 |
| nsv4682533 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 118,962,110 | 118,964,270 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212001 | deletion | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001031972.4, VCV000831416.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16212001 | Remapped | Perfect | NC_000011.10:g.(?_ 119091400)_(119093 560_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 119,091,400 | 119,093,560 |
| nssv16212001 | Submitted genomic | NC_000011.9:g.(?_1 18962110)_(1189642 70_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 118,962,110 | 118,964,270 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212001 | GRCh37: NC_000011.9:g.(?_118962110)_(118964270_?)del | deletion | germline | not provided | Likely pathogenic | ClinVar | RCV001031972.4, VCV000831416.4 |