nsv984838
- Organism: Homo sapiens
- Study:nstd11 (Walter et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:190,094,488
- 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: 537508 SVs from 158 studies. See in: genome view
Overlapping variant regions from other studies: 536251 SVs from 158 studies. See in: genome view
Overlapping variant regions from other studies: 156062 SVs from 48 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984838 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 12,281 | 190,106,768 |
| nsv984838 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 25,701 | 190,828,225 |
| nsv984838 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 2,281 | 191,261,904 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459334 | copy number gain | SNP array | SNP genotyping analysis | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459353 | copy number loss | SNP array | SNP genotyping analysis | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459415 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459334 | Remapped | Good | NC_000004.12:g.(?_ 12281)_(190106768_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 12,281 | 190,106,768 |
| nssv459353 | Remapped | Good | NC_000004.12:g.(?_ 12281)_(190106768_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 12,281 | 190,106,768 |
| nssv459415 | Remapped | Good | NC_000004.12:g.(?_ 12281)_(190106768_ ?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 12,281 | 190,106,768 |
| nssv459334 | Remapped | Good | NC_000004.11:g.(?_ 25701)_(190828225_ ?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,701 | 190,828,225 |
| nssv459353 | Remapped | Good | NC_000004.11:g.(?_ 25701)_(190828225_ ?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,701 | 190,828,225 |
| nssv459415 | Remapped | Good | NC_000004.11:g.(?_ 25701)_(190828225_ ?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,701 | 190,828,225 |
| nssv459334 | Submitted genomic | NC_000004.10:g.(?_ 2281)_(191261904_? )dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 2,281 | 191,261,904 | ||
| nssv459353 | Submitted genomic | NC_000004.10:g.(?_ 2281)_(191261904_? )del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 2,281 | 191,261,904 | ||
| nssv459415 | Submitted genomic | NC_000004.10:g.(?_ 2281)_(191261904_? )dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 2,281 | 191,261,904 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459334 | NCBI36: NC_000004.10:g.(?_2281)_(191261904_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459353 | NCBI36: NC_000004.10:g.(?_2281)_(191261904_?)del | copy number loss | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459415 | NCBI36: NC_000004.10:g.(?_2281)_(191261904_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |