nsv1364436
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:494,892
- Publication(s):Duyzend et al. 2015
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: 1637 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1637 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 521 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1364436 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 54,985,562 | 55,480,453 |
| nsv1364436 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 55,559,697 | 56,054,588 |
| nsv1364436 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 54,457,698 | 54,952,589 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv7985438 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv7985438 | Remapped | Perfect | NC_000013.11:g.(?_ 54985562)_(5548045 3_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 54,985,562 | 55,480,453 |
| nssv7985438 | Remapped | Perfect | NC_000013.10:g.(?_ 55559697)_(5605458 8_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 55,559,697 | 56,054,588 |
| nssv7985438 | Submitted genomic | NC_000013.9:g.(?_5 4457698)_(54952589 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 54,457,698 | 54,952,589 |