nsv2784176
- 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:315,943
- 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: 805 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 805 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 208 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2784176 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 81,408,450 | 81,724,392 |
| nsv2784176 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 80,704,269 | 81,020,211 |
| nsv2784176 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 80,740,025 | 81,055,967 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv13671625 | copy number loss | CGPQ-1452 | SNP array | Genotyping | 35 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13671625 | Remapped | Perfect | NC_000005.10:g.(?_ 81408450)_(8172439 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 81,408,450 | 81,724,392 |
| nssv13671625 | Remapped | Perfect | NC_000005.9:g.(?_8 0704269)_(81020211 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 80,704,269 | 81,020,211 |
| nssv13671625 | Submitted genomic | NC_000005.8:g.(?_8 0740025)_(81055967 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 80,740,025 | 81,055,967 |