nsv1062781
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:123,941
- Publication(s):Coe et al. 2014
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: 2900 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2905 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1824 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1062781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 32,499,491 | 32,623,431 |
| nsv1062781 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 32,510,812 | 32,634,752 |
| nsv1062781 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 32,418,313 | 32,542,253 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3551794 | copy number loss | SNP array | Probe signal intensity |
| nssv3551795 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3551794 | Remapped | Perfect | NC_000016.10:g.(?_ 32499491)_(3262343 1_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,499,491 | 32,623,431 |
| nssv3551795 | Remapped | Perfect | NC_000016.10:g.(?_ 32499491)_(3262343 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,499,491 | 32,623,431 |
| nssv3551794 | Remapped | Perfect | NC_000016.9:g.(?_3 2510812)_(32634752 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,510,812 | 32,634,752 |
| nssv3551795 | Remapped | Perfect | NC_000016.9:g.(?_3 2510812)_(32634752 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,510,812 | 32,634,752 |
| nssv3551794 | Submitted genomic | NC_000016.8:g.(?_3 2418313)_(32542253 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,418,313 | 32,542,253 | ||
| nssv3551795 | Submitted genomic | NC_000016.8:g.(?_3 2418313)_(32542253 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,418,313 | 32,542,253 |