nsv429503
- 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:51,248
- 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: 250 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 74 SVs from 13 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429503 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 118,570,618 | 118,621,865 |
| nsv429503 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 121,332,896 | 121,384,143 |
| nsv429503 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 120,372,717 | 120,423,964 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459289 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459289 | Remapped | Perfect | NC_000009.12:g.(?_ 118570618)_(118621 865_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 118,570,618 | 118,621,865 |
| nssv459289 | Remapped | Perfect | NC_000009.11:g.(?_ 121332896)_(121384 143_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 121,332,896 | 121,384,143 |
| nssv459289 | Submitted genomic | NC_000009.10:g.(?_ 120372717)_(120423 964_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 120,372,717 | 120,423,964 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459289 | NCBI36: NC_000009.10:g.(?_120372717)_(120423964_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |