nsv429681
- 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:192,667
- 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: 807 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 807 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 264 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429681 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 84,752,066 | 84,944,732 |
| nsv429681 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 84,785,672 | 84,978,338 |
| nsv429681 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 83,343,173 | 83,535,839 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459467 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459467 | Remapped | Perfect | NC_000016.10:g.(?_ 84752066)_(8494473 2_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 84,752,066 | 84,944,732 |
| nssv459467 | Remapped | Perfect | NC_000016.9:g.(?_8 4785672)_(84978338 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 84,785,672 | 84,978,338 |
| nssv459467 | Submitted genomic | NC_000016.8:g.(?_8 3343173)_(83535839 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 83,343,173 | 83,535,839 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459467 | NCBI36: NC_000016.8:g.(?_83343173)_(83535839_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |