nsv429579
- 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:617,269
- 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: 1350 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1350 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 404 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429579 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 114,193,670 | 114,810,938 |
| nsv429579 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 114,514,834 | 115,132,102 |
| nsv429579 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 114,621,527 | 115,238,795 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459365 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459365 | Remapped | Perfect | NC_000006.12:g.(?_ 114193670)_(114810 938_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 114,193,670 | 114,810,938 |
| nssv459365 | Remapped | Perfect | NC_000006.11:g.(?_ 114514834)_(115132 102_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 114,514,834 | 115,132,102 |
| nssv459365 | Submitted genomic | NC_000006.10:g.(?_ 114621527)_(115238 795_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 114,621,527 | 115,238,795 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459365 | NCBI36: NC_000006.10:g.(?_114621527)_(115238795_?)del | copy number loss | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |