nsv7137129
- 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:13,727,341
- Description:GRCh37/hg19 11q23.3-25(chr11:120531028-134257553) 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: 33246 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 33250 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137129 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 120,660,319 | 134,387,659 |
| nsv7137129 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 120,531,028 | 134,257,553 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830814 | copy number loss | Multiple | Multiple | 11q partial monosomy syndrome; JACOBSEN SYNDROME; JBS; Jacobsen syndrome | Pathogenic | ClinVar | RCV003236728.1, VCV002506544.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830814 | Remapped | Good | NC_000011.10:g.(?_ 120660319)_(134387 659_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 120,660,319 | 134,387,659 |
| nssv18830814 | Submitted genomic | NC_000011.9:g.(?_1 20531028)_(1342575 53_?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 120,531,028 | 134,257,553 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830814 | GRCh37: NC_000011.9:g.(?_120531028)_(134257553_?)del | copy number loss | germline | 11q partial monosomy syndrome; JACOBSEN SYNDROME; JBS; Jacobsen syndrome | Pathogenic | ClinVar | RCV003236728.1, VCV002506544.1 |