nsv2729117
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,517,312
- Publication(s):Leppa et al. 2016
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: 2895 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 3355 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1149 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2729117 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 35,949,228 | 46,466,539 |
| nsv2729117 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 35,183,599 | 46,500,451 |
| nsv2729117 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 35,041,100 | 45,057,952 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13548629 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13548629 | Remapped | Good | NC_000016.10:g.(?_ 35949228)_(4646653 9_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 35,949,228 | 46,466,539 |
| nssv13548629 | Remapped | Pass | NC_000016.9:g.(?_3 5183599)_(46500451 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 35,183,599 | 46,500,451 |
| nssv13548629 | Submitted genomic | NC_000016.8:g.(?_3 5041100)_(45057952 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 35,041,100 | 45,057,952 |