nsv2745430
- 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:10,456,499
- 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: 2555 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 3014 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1038 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2745430 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 36,010,041 | 46,466,539 |
| nsv2745430 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 35,244,412 | 46,500,451 |
| nsv2745430 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 35,101,913 | 45,057,952 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13555440 | deletion | SNP array | Probe signal intensity |
| nssv13566271 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13555440 | Remapped | Pass | NC_000016.10:g.(?_ 36010041)_(4646653 9_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 36,010,041 | 46,466,539 |
| nssv13566271 | Remapped | Pass | NC_000016.10:g.(?_ 36010041)_(4646653 9_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 36,010,041 | 46,466,539 |
| nssv13555440 | Remapped | Pass | NC_000016.9:g.(?_3 5244412)_(46500451 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 35,244,412 | 46,500,451 |
| nssv13566271 | Remapped | Pass | NC_000016.9:g.(?_3 5244412)_(46500451 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 35,244,412 | 46,500,451 |
| nssv13555440 | Submitted genomic | NC_000016.8:g.(?_3 5101913)_(45057952 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 35,101,913 | 45,057,952 | ||
| nssv13566271 | Submitted genomic | NC_000016.8:g.(?_3 5101913)_(45057952 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 35,101,913 | 45,057,952 |