nsv2785371
- Organism: Homo sapiens
- Study:nstd132 (Walker et al. 2017)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:707,836
- Publication(s):Walker et al. 2017
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: 2406 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2407 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 542 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2785371 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 40,085,275 | 40,793,110 |
| nsv2785371 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 40,591,182 | 41,299,015 |
| nsv2785371 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 45,283,022 | 45,990,855 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13664931 | copy number loss | CGPQ-250 | SNP array | Genotyping | 56 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13664931 | Remapped | Perfect | NC_000019.10:g.(?_ 40085275)_(4079311 0_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 40,085,275 | 40,793,110 |
| nssv13664931 | Remapped | Perfect | NC_000019.9:g.(?_4 0591182)_(41299015 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 40,591,182 | 41,299,015 |
| nssv13664931 | Submitted genomic | NC_000019.8:g.(?_4 5283022)_(45990855 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 45,283,022 | 45,990,855 |