nsv2784939
- 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:340,119
- 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: 945 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 945 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 297 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2784939 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 88,648,215 | 88,988,333 |
| nsv2784939 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 89,357,934 | 89,698,052 |
| nsv2784939 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 89,414,653 | 89,754,771 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13675522 | copy number loss | CGPQ-1724 | SNP array | Genotyping | 84 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13675522 | Remapped | Perfect | NC_000006.12:g.(?_ 88648215)_(8898833 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 88,648,215 | 88,988,333 |
| nssv13675522 | Remapped | Perfect | NC_000006.11:g.(?_ 89357934)_(8969805 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 89,357,934 | 89,698,052 |
| nssv13675522 | Submitted genomic | NC_000006.10:g.(?_ 89414653)_(8975477 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 89,414,653 | 89,754,771 |