nsv984839
- Organism: Homo sapiens
- Study:nstd11 (Walter et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:159,290,413
- 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: 452561 SVs from 156 studies. See in: genome view
Overlapping variant regions from other studies: 450886 SVs from 156 studies. See in: genome view
Overlapping variant regions from other studies: 132170 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984839 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 43,902 | 159,334,314 |
| nsv984839 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 10,239 | 159,127,004 |
| nsv984839 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 52,911 | 158,819,765 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459347 | copy number loss | SNP array | SNP genotyping analysis | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459359 | copy number gain | SNP array | SNP genotyping analysis | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459423 | copy number loss | SNP array | SNP genotyping analysis | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459481 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459347 | Remapped | Good | NC_000007.14:g.(?_ 43902)_(159334314_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 43,902 | 159,334,314 |
| nssv459359 | Remapped | Good | NC_000007.14:g.(?_ 43902)_(159334314_ ?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 43,902 | 159,334,314 |
| nssv459423 | Remapped | Good | NC_000007.14:g.(?_ 43902)_(159334314_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 43,902 | 159,334,314 |
| nssv459481 | Remapped | Good | NC_000007.14:g.(?_ 43902)_(159334314_ ?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 43,902 | 159,334,314 |
| nssv459347 | Remapped | Good | NC_000007.13:g.(?_ 10239)_(159127004_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 10,239 | 159,127,004 |
| nssv459359 | Remapped | Good | NC_000007.13:g.(?_ 10239)_(159127004_ ?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 10,239 | 159,127,004 |
| nssv459423 | Remapped | Good | NC_000007.13:g.(?_ 10239)_(159127004_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 10,239 | 159,127,004 |
| nssv459481 | Remapped | Good | NC_000007.13:g.(?_ 10239)_(159127004_ ?)del | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 10,239 | 159,127,004 |
| nssv459347 | Submitted genomic | NC_000007.12:g.(?_ 52911)_(158819765_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 52,911 | 158,819,765 | ||
| nssv459359 | Submitted genomic | NC_000007.12:g.(?_ 52911)_(158819765_ ?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 52,911 | 158,819,765 | ||
| nssv459423 | Submitted genomic | NC_000007.12:g.(?_ 52911)_(158819765_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 52,911 | 158,819,765 | ||
| nssv459481 | Submitted genomic | NC_000007.12:g.(?_ 52911)_(158819765_ ?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 52,911 | 158,819,765 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459347 | NCBI36: NC_000007.12:g.(?_52911)_(158819765_?)del | copy number loss | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459359 | NCBI36: NC_000007.12:g.(?_52911)_(158819765_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459423 | NCBI36: NC_000007.12:g.(?_52911)_(158819765_?)del | copy number loss | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459481 | NCBI36: NC_000007.12:g.(?_52911)_(158819765_?)del | copy number loss | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |