nsv429659
- 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:606,739
- 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: 1544 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1544 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 546 SVs from 17 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 |
---|---|---|---|---|---|---|---|---|---|
nsv429659 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 87,934,133 | 88,540,871 |
nsv429659 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 87,983,283 | 88,590,021 |
nsv429659 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 88,065,973 | 88,672,711 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv459445 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv459445 | Remapped | Perfect | NC_000003.12:g.(?_ 87934133)_(8854087 1_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 87,934,133 | 88,540,871 |
nssv459445 | Remapped | Perfect | NC_000003.11:g.(?_ 87983283)_(8859002 1_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 87,983,283 | 88,590,021 |
nssv459445 | Submitted genomic | NC_000003.10:g.(?_ 88065973)_(8867271 1_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 88,065,973 | 88,672,711 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
---|---|---|---|---|---|---|
nssv459445 | NCBI36: NC_000003.10:g.(?_88065973)_(88672711_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |