nsv984837
- Organism: Homo sapiens
- Study:nstd11 (Walter et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:198,150,581
- 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: 489950 SVs from 157 studies. See in: genome view
Overlapping variant regions from other studies: 488446 SVs from 157 studies. See in: genome view
Overlapping variant regions from other studies: 144806 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984837 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 18,667 | 198,169,247 |
| nsv984837 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 60,345 | 197,896,118 |
| nsv984837 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 35,345 | 199,380,515 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459341 | copy number gain | SNP array | SNP genotyping analysis | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459352 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459341 | Remapped | Good | NC_000003.12:g.(?_ 18667)_(198169247_ ?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 18,667 | 198,169,247 |
| nssv459352 | Remapped | Good | NC_000003.12:g.(?_ 18667)_(198169247_ ?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 18,667 | 198,169,247 |
| nssv459341 | Remapped | Good | NC_000003.11:g.(?_ 60345)_(197896118_ ?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 60,345 | 197,896,118 |
| nssv459352 | Remapped | Good | NC_000003.11:g.(?_ 60345)_(197896118_ ?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 60,345 | 197,896,118 |
| nssv459341 | Submitted genomic | NC_000003.10:g.(?_ 35345)_(199380515_ ?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 35,345 | 199,380,515 | ||
| nssv459352 | Submitted genomic | NC_000003.10:g.(?_ 35345)_(199380515_ ?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 35,345 | 199,380,515 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459341 | NCBI36: NC_000003.10:g.(?_35345)_(199380515_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |
| nssv459352 | NCBI36: NC_000003.10:g.(?_35345)_(199380515_?)del | copy number loss | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |