nsv4350042
- 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:9,457,965
- Description:GRCh37/hg19 11q24.2-25(chr11:125446101-134904063) AND 11q partial monosomy syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 26185 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 26188 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350042 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 125,576,205 | 135,034,169 |
| nsv4350042 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 125,446,101 | 134,904,063 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606041 | copy number loss | Multiple | Multiple | 11q partial monosomy syndrome; JACOBSEN SYNDROME; JBS; Jacobsen syndrome | Pathogenic | ClinVar | RCV000767602.1, VCV000625594.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606041 | Remapped | Perfect | NC_000011.10:g.(?_ 125576205)_(135034 169_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 125,576,205 | 135,034,169 |
| nssv15606041 | Submitted genomic | NC_000011.9:g.(?_1 25446101)_(1349040 63_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 125,446,101 | 134,904,063 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606041 | GRCh37: NC_000011.9:g.(?_125446101)_(134904063_?)del | copy number loss | germline | 11q partial monosomy syndrome; JACOBSEN SYNDROME; JBS; Jacobsen syndrome | Pathogenic | ClinVar | RCV000767602.1, VCV000625594.1 |