nsv1064365
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:88,978
- 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: 379 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 379 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1064365 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 20,898,426 | 20,987,403 |
| nsv1064365 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 20,801,739 | 20,890,716 |
| nsv1064365 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 20,742,331 | 20,831,308 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3560924 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3560924 | Remapped | Perfect | NC_000017.11:g.(?_ 20898426)_(2098740 3_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 20,898,426 | 20,987,403 |
| nssv3560924 | Remapped | Perfect | NC_000017.10:g.(?_ 20801739)_(2089071 6_?)dup | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 20,801,739 | 20,890,716 |
| nssv3560924 | Submitted genomic | NC_000017.9:g.(?_2 0742331)_(20831308 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 20,742,331 | 20,831,308 |