nsv429694
- Organism: Homo sapiens
- Study:nstd11 (Walter et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:131,226,323
- Publication(s):Walter et al. 2009
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: 325338 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 325292 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 92412 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429694 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 50,136,997 | 181,363,319 |
| nsv429694 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 49,432,831 | 180,790,320 |
| nsv429694 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 49,468,588 | 180,722,926 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459480 | copy number loss | SNP array | SNP genotyping analysis | Leukemia, Myeloid, Acute | not provided | Submitter |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv459480 | Remapped | Good | NC_000005.10:g.(?_ 50136997)_(1813633 19_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 50,136,997 | 181,363,319 |
| nssv459480 | Remapped | Good | NC_000005.9:g.(?_4 9432831)_(18079032 0_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 49,432,831 | 180,790,320 |
| nssv459480 | Submitted genomic | NC_000005.8:g.(?_4 9468588)_(18072292 6_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 49,468,588 | 180,722,926 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459480 | NCBI36: NC_000005.8:g.(?_49468588)_(180722926_?)del | copy number loss | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |