nsv3111781
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,544
- 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: 170 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3111781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 12,930,033 | 12,935,576 |
| nsv3111781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 13,082,967 | 13,088,510 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14091640 | deletion | sample89 | Oligo aCGH | Probe signal intensity | 102 |
| nssv14091665 | deletion | sample95 | Oligo aCGH | Probe signal intensity | 88 |
| nssv14092747 | deletion | sample116 | Oligo aCGH | Probe signal intensity | 107 |
| nssv14093894 | deletion | sample398 | Oligo aCGH | Probe signal intensity | 71 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14091640 | Remapped | Perfect | NC_000012.12:g.(?_ 12930033)_(1293557 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,930,033 | 12,935,576 |
| nssv14091665 | Remapped | Perfect | NC_000012.12:g.(?_ 12930033)_(1293557 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,930,033 | 12,935,576 |
| nssv14092747 | Remapped | Perfect | NC_000012.12:g.(?_ 12930033)_(1293557 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,930,033 | 12,935,576 |
| nssv14093894 | Remapped | Perfect | NC_000012.12:g.(?_ 12930033)_(1293557 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,930,033 | 12,935,576 |
| nssv14091640 | Submitted genomic | NC_000012.11:g.(?_ 13082967)_(1308851 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 13,082,967 | 13,088,510 | ||
| nssv14091665 | Submitted genomic | NC_000012.11:g.(?_ 13082967)_(1308851 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 13,082,967 | 13,088,510 | ||
| nssv14092747 | Submitted genomic | NC_000012.11:g.(?_ 13082967)_(1308851 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 13,082,967 | 13,088,510 | ||
| nssv14093894 | Submitted genomic | NC_000012.11:g.(?_ 13082967)_(1308851 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 13,082,967 | 13,088,510 |