nsv429701
- 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:799,958
- 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: 2363 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2363 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 732 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429701 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 40,099,999 | 40,899,956 |
| nsv429701 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 39,957,518 | 40,757,475 |
| nsv429701 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 40,076,675 | 40,876,632 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459487 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459487 | Remapped | Perfect | NC_000008.11:g.(?_ 40099999)_(4089995 6_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 40,099,999 | 40,899,956 |
| nssv459487 | Remapped | Perfect | NC_000008.10:g.(?_ 39957518)_(4075747 5_?)dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,957,518 | 40,757,475 |
| nssv459487 | Submitted genomic | NC_000008.9:g.(?_4 0076675)_(40876632 _?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 40,076,675 | 40,876,632 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459487 | NCBI36: NC_000008.9:g.(?_40076675)_(40876632_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |