nsv958862
- Organism: Homo sapiens
- Study:nstd83 (Morak et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:259,887
- Publication(s):Morak et al. 2013
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 697 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 697 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv958862 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 91,884,416 | 92,144,302 |
| nsv958862 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 92,278,192 | 92,538,078 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| nssv3020580 | deletion | 9 | Sequencing | Sequence alignment | Childhood B Acute Lymphoblastic Leukemia | Uncertain significance | Submitter | nssv3020578, nssv3020568, nssv3020567 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3020580 | Remapped | Perfect | NC_000012.12:g.918 84416_92144302del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 91,884,416 | 92,144,302 |
| nssv3020580 | Submitted genomic | NC_000012.11:g.922 78192_92538078del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 92,278,192 | 92,538,078 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| nssv3020580 | 9 | GRCh37: NC_000012.11:g.92278192_92538078del | deletion | Childhood B Acute Lymphoblastic Leukemia | Uncertain significance | Submitter | Male | nssv3020578, nssv3020568, nssv3020567 |