nsv3114480
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,858
- Publication(s):Lu 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: 306 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 306 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3114480 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 45,512,929 | 45,515,786 |
| nsv3114480 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 45,906,712 | 45,909,569 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14092700 | deletion | sample102 | Oligo aCGH | Probe signal intensity | 95 |
| nssv14092844 | deletion | sample142 | Oligo aCGH | Probe signal intensity | 89 |
| nssv14092902 | deletion | sample155 | Oligo aCGH | Probe signal intensity | 87 |
| nssv14092934 | deletion | sample163 | Oligo aCGH | Probe signal intensity | 93 |
| nssv14093773 | deletion | sample361 | Oligo aCGH | Probe signal intensity | 80 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14092700 | Remapped | Perfect | NC_000012.12:g.(?_ 45512929)_(4551578 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,512,929 | 45,515,786 |
| nssv14092844 | Remapped | Perfect | NC_000012.12:g.(?_ 45512929)_(4551578 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,512,929 | 45,515,786 |
| nssv14092902 | Remapped | Perfect | NC_000012.12:g.(?_ 45512929)_(4551578 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,512,929 | 45,515,786 |
| nssv14092934 | Remapped | Perfect | NC_000012.12:g.(?_ 45512929)_(4551578 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,512,929 | 45,515,786 |
| nssv14093773 | Remapped | Perfect | NC_000012.12:g.(?_ 45512929)_(4551578 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,512,929 | 45,515,786 |
| nssv14092700 | Submitted genomic | NC_000012.11:g.(?_ 45906712)_(4590956 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 45,906,712 | 45,909,569 | ||
| nssv14092844 | Submitted genomic | NC_000012.11:g.(?_ 45906712)_(4590956 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 45,906,712 | 45,909,569 | ||
| nssv14092902 | Submitted genomic | NC_000012.11:g.(?_ 45906712)_(4590956 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 45,906,712 | 45,909,569 | ||
| nssv14092934 | Submitted genomic | NC_000012.11:g.(?_ 45906712)_(4590956 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 45,906,712 | 45,909,569 | ||
| nssv14093773 | Submitted genomic | NC_000012.11:g.(?_ 45906712)_(4590956 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 45,906,712 | 45,909,569 |