nsv4455554
- 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:12,579,520
- Description:GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)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: 30100 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 30108 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455554 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 104,230,683 | 116,810,202 |
| nsv4455554 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 104,101,411 | 116,680,918 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776162 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848741.2, VCV000688050.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776162 | Remapped | Perfect | NC_000011.10:g.(?_ 104230683)_(116810 202_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 104,230,683 | 116,810,202 |
| nssv15776162 | Submitted genomic | NC_000011.9:g.(?_1 04101411)_(1166809 18_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 104,101,411 | 116,680,918 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776162 | GRCh37: NC_000011.9:g.(?_104101411)_(116680918_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000848741.2, VCV000688050.2 | 1 |