nsv2784102
- 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:392,752
- 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: 1328 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1328 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 462 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2784102 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 91,365,454 | 91,758,205 |
| nsv2784102 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 92,286,605 | 92,679,356 |
| nsv2784102 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 92,505,628 | 92,898,379 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13675319 | copy number loss | CGPQ-2133 | SNP array | Genotyping | 17 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13675319 | Remapped | Perfect | NC_000004.12:g.(?_ 91365454)_(9175820 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 91,365,454 | 91,758,205 |
| nssv13675319 | Remapped | Perfect | NC_000004.11:g.(?_ 92286605)_(9267935 6_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 92,286,605 | 92,679,356 |
| nssv13675319 | Submitted genomic | NC_000004.10:g.(?_ 92505628)_(9289837 9_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 92,505,628 | 92,898,379 |