nsv3094735
- Organism: Homo sapiens
- Study:nstd144 (Gardner et al. 2017)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:358
- Description:Absence of a AluYb8 mobile element insertion that is present in the reference
- Publication(s):Gardner et al. 2017
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: 1190 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 1675 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1028 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3094735 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,498,399 | 106,498,756 |
| nsv3094735 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 990,078 | 990,435 |
| nsv3094735 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,954,360 | 106,954,718 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14051567 | alu deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14051567 | Remapped | Good | NT_187600.1:g.9900 78_990435del | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 990,078 | 990,435 |
| nssv14051567 | Remapped | Good | NC_000014.9:g.1064 98399_106498756del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,498,399 | 106,498,756 |
| nssv14051567 | Submitted genomic | NC_000014.8:g.1069 54360_106954718del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,954,360 | 106,954,718 |