nsv2763409
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:55,112
- 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: 1447 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1447 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2763409 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,473,349 | 39,528,460 |
| nsv2763409 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,330,868 | 39,385,979 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13634607 | deletion | SNP array | Probe signal intensity |
| nssv13634608 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13634607 | Remapped | Perfect | NC_000008.11:g.(?_ 39473349)_(3952846 0_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,473,349 | 39,528,460 |
| nssv13634608 | Remapped | Perfect | NC_000008.11:g.(?_ 39473349)_(3952846 0_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,473,349 | 39,528,460 |
| nssv13634607 | Submitted genomic | NC_000008.10:g.(?_ 39330868)_(3938597 9_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,330,868 | 39,385,979 | ||
| nssv13634608 | Submitted genomic | NC_000008.10:g.(?_ 39330868)_(3938597 9_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,330,868 | 39,385,979 |