nsv3111768
- 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:40,201
- 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: 310 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 310 SVs from 60 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3111768 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 48,278,574 | 48,318,774 |
| nsv3111768 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 48,672,357 | 48,712,557 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14091422 | deletion | sample31 | Oligo aCGH | Probe signal intensity | 78 |
| nssv14091540 | deletion | sample66 | Oligo aCGH | Probe signal intensity | 50 |
| nssv14091551 | deletion | sample69 | Oligo aCGH | Probe signal intensity | 90 |
| nssv14092614 | deletion | sample304 | Oligo aCGH | Probe signal intensity | 87 |
| nssv14092801 | deletion | sample130 | Oligo aCGH | Probe signal intensity | 92 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14091422 | Remapped | Perfect | NC_000012.12:g.(?_ 48278574)_(4831877 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 48,278,574 | 48,318,774 |
| nssv14091540 | Remapped | Perfect | NC_000012.12:g.(?_ 48278574)_(4831877 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 48,278,574 | 48,318,774 |
| nssv14091551 | Remapped | Perfect | NC_000012.12:g.(?_ 48278574)_(4831877 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 48,278,574 | 48,318,774 |
| nssv14092614 | Remapped | Perfect | NC_000012.12:g.(?_ 48278574)_(4831877 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 48,278,574 | 48,318,774 |
| nssv14092801 | Remapped | Perfect | NC_000012.12:g.(?_ 48278574)_(4831877 4_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 48,278,574 | 48,318,774 |
| nssv14091422 | Submitted genomic | NC_000012.11:g.(?_ 48672357)_(4871255 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 48,672,357 | 48,712,557 | ||
| nssv14091540 | Submitted genomic | NC_000012.11:g.(?_ 48672357)_(4871255 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 48,672,357 | 48,712,557 | ||
| nssv14091551 | Submitted genomic | NC_000012.11:g.(?_ 48672357)_(4871255 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 48,672,357 | 48,712,557 | ||
| nssv14092614 | Submitted genomic | NC_000012.11:g.(?_ 48672357)_(4871255 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 48,672,357 | 48,712,557 | ||
| nssv14092801 | Submitted genomic | NC_000012.11:g.(?_ 48672357)_(4871255 7_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 48,672,357 | 48,712,557 |