nsv958870
- 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:213,778
- 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: 2152 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2172 SVs from 106 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv958870 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,031,469 | 22,245,246 |
| nsv958870 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,385,867 | 22,599,658 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv3020583 | deletion | 5 | Sequencing | Sequence alignment | Childhood B Acute Lymphoblastic Leukemia | Uncertain significance | Submitter | nssv3020559, nssv3020560, nssv3020575 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3020583 | Remapped | Good | NC_000022.11:g.220 31469_22245246del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,031,469 | 22,245,246 |
| nssv3020583 | Submitted genomic | NC_000022.10:g.223 85867_22599658del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,385,867 | 22,599,658 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv3020583 | 5 | GRCh37: NC_000022.10:g.22385867_22599658del | deletion | Childhood B Acute Lymphoblastic Leukemia | Uncertain significance | Submitter | Female | nssv3020559, nssv3020560, nssv3020575 |