nsv429522
- 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:71,165
- 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: 673 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 673 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 319 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv429522 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 46,605,881 | 46,677,045 |
| nsv429522 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 48,025,794 | 48,096,957 |
| nsv429522 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000021.7 | Chr21 | 46,850,222 | 46,921,385 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459308 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv459308 | Remapped | Good | NC_000021.9:g.(?_4 6605881)_(46677045 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 46,605,881 | 46,677,045 |
| nssv459308 | Remapped | Perfect | NC_000021.8:g.(?_4 8025794)_(48096957 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 48,025,794 | 48,096,957 |
| nssv459308 | Submitted genomic | NC_000021.7:g.(?_4 6850222)_(46921385 _?)dup | NCBI36 (hg18) | NC_000021.7 | Chr21 | 46,850,222 | 46,921,385 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation |
|---|---|---|---|---|---|---|
| nssv459308 | NCBI36: NC_000021.7:g.(?_46850222)_(46921385_?)dup | copy number gain | somatic | Leukemia, Myeloid, Acute | not provided | Submitter |