nsv429690
- 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:570,425
- 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: 1290 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1290 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429690 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 36,178,190 | 36,748,614 |
| nsv429690 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 36,035,708 | 36,606,132 |
| nsv429690 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 36,155,250 | 36,725,290 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459476 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459476 | Remapped | Good | NC_000008.11:g.(?_ 36178190)_(3674861 4_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 36,178,190 | 36,748,614 |
| nssv459476 | Remapped | Good | NC_000008.10:g.(?_ 36035708)_(3660613 2_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 36,035,708 | 36,606,132 |
| nssv459476 | Submitted genomic | NC_000008.9:g.(?_3 6155250)_(36725290 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 36,155,250 | 36,725,290 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459476 | NCBI36: NC_000008.9:g.(?_36155250)_(36725290_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |