nsv458079
- Organism: Homo sapiens
- Study:nstd27 (Itsara et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:266,483
- Publication(s):Itsara 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: 1160 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1160 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv458079 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 52,830,052 | 53,096,534 |
| nsv458079 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 50,356,422 | 50,622,904 |
| nsv458079 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000018.8 | Chr18 | 48,610,420 | 48,876,902 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv535121 | copy number loss | HGDP01339 | SNP array | SNP genotyping analysis | 1 | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv535121 | Remapped | Perfect | NC_000018.10:g.(?_ 52830052)_(5309653 4_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 52,830,052 | 53,096,534 |
| nssv535121 | Remapped | Perfect | NC_000018.9:g.(?_5 0356422)_(50622904 _?)del | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 50,356,422 | 50,622,904 |
| nssv535121 | Submitted genomic | NC_000018.8:g.(?_4 8610420)_(48876902 _?)del | NCBI35 (hg17) | NC_000018.8 | Chr18 | 48,610,420 | 48,876,902 |