nsv3318359
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:260,184
- Publication(s):Frenkel et al. 2019
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: 863 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 863 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318359 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 133,138,398 | 133,398,581 |
| nsv3318359 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 133,008,293 | 133,268,476 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14471893 | copy number gain | M2502 | SNP array | SNP genotyping analysis | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14471893 | Remapped | Perfect | NC_000011.10:g.(?_ 133138398)_(133398 581_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 133,138,398 | 133,398,581 |
| nssv14471893 | Submitted genomic | NC_000011.9:g.(?_1 33008293)_(1332684 76_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 133,008,293 | 133,268,476 |