nsv958866
- 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:192,168
- 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: 656 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 663 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv958866 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 36,929,057 | 37,121,224 |
| nsv958866 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 36,929,054 | 37,121,221 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv3020572 | deletion | 2 | Sequencing | Sequence alignment | Childhood B Acute Lymphoblastic Leukemia | Uncertain significance | Submitter | nssv3020553, nssv3020554 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3020572 | Remapped | Perfect | NC_000009.12:g.369 29057_37121224del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 36,929,057 | 37,121,224 |
| nssv3020572 | Submitted genomic | NC_000009.11:g.369 29054_37121221del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 36,929,054 | 37,121,221 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv3020572 | 2 | GRCh37: NC_000009.11:g.36929054_37121221del | deletion | Childhood B Acute Lymphoblastic Leukemia | Uncertain significance | Submitter | Male | nssv3020553, nssv3020554 |