nsv2734427
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,703,788
- 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: 6718 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 5681 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1872 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2734427 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 34,283,456 | 37,987,243 |
| nsv2734427 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 34,436,391 | 38,381,045 |
| nsv2734427 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 34,327,658 | 36,667,312 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13594420 | deletion | SNP array | Probe signal intensity |
| nssv13598604 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13594420 | Remapped | Pass | NC_000012.12:g.(?_ 34283456)_(3798724 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,283,456 | 37,987,243 |
| nssv13598604 | Remapped | Pass | NC_000012.12:g.(?_ 34283456)_(3798724 3_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 34,283,456 | 37,987,243 |
| nssv13594420 | Remapped | Pass | NC_000012.11:g.(?_ 34436391)_(3838104 5_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,436,391 | 38,381,045 |
| nssv13598604 | Remapped | Pass | NC_000012.11:g.(?_ 34436391)_(3838104 5_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 34,436,391 | 38,381,045 |
| nssv13594420 | Submitted genomic | NC_000012.10:g.(?_ 34327658)_(3666731 2_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 34,327,658 | 36,667,312 | ||
| nssv13598604 | Submitted genomic | NC_000012.10:g.(?_ 34327658)_(3666731 2_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 34,327,658 | 36,667,312 |