nsv429660
- 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:626,070
- 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: 1300 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1300 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 476 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429660 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 88,543,127 | 89,169,196 |
| nsv429660 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 88,592,277 | 89,218,346 |
| nsv429660 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 88,674,967 | 89,301,036 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459446 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459446 | Remapped | Perfect | NC_000003.12:g.(?_ 88543127)_(8916919 6_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 88,543,127 | 89,169,196 |
| nssv459446 | Remapped | Perfect | NC_000003.11:g.(?_ 88592277)_(8921834 6_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 88,592,277 | 89,218,346 |
| nssv459446 | Submitted genomic | NC_000003.10:g.(?_ 88674967)_(8930103 6_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 88,674,967 | 89,301,036 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459446 | NCBI36: NC_000003.10:g.(?_88674967)_(89301036_?)del | copy number loss | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |