nsv429666
- 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:719,451
- 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: 1884 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1885 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 660 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429666 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 29,449,447 | 30,168,897 |
| nsv429666 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 30,821,767 | 31,541,215 |
| nsv429666 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 29,743,638 | 30,463,086 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459452 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459452 | Remapped | Perfect | NC_000021.9:g.(?_2 9449447)_(30168897 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 29,449,447 | 30,168,897 |
| nssv459452 | Remapped | Perfect | NC_000021.8:g.(?_3 0821767)_(31541215 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 30,821,767 | 31,541,215 |
| nssv459452 | Submitted genomic | NC_000021.7:g.(?_2 9743638)_(30463086 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 29,743,638 | 30,463,086 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459452 | NCBI36: NC_000021.7:g.(?_29743638)_(30463086_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |