nsv3112062
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,568
- 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: 676 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 676 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3112062 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nsv3112062 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 594,429 | 598,996 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14085291 | deletion | sample166 | Oligo aCGH | Probe signal intensity | 49 |
| nssv14085815 | deletion | sample23 | Oligo aCGH | Probe signal intensity | 60 |
| nssv14085829 | deletion | sample28 | Oligo aCGH | Probe signal intensity | 68 |
| nssv14085873 | deletion | sample41 | Oligo aCGH | Probe signal intensity | 68 |
| nssv14086165 | deletion | sample236 | Oligo aCGH | Probe signal intensity | 62 |
| nssv14086222 | deletion | sample254 | Oligo aCGH | Probe signal intensity | 65 |
| nssv14087118 | deletion | sample121 | Oligo aCGH | Probe signal intensity | 25 |
| nssv14087197 | deletion | sample139 | Oligo aCGH | Probe signal intensity | 46 |
| nssv14087228 | deletion | sample366 | Oligo aCGH | Probe signal intensity | 60 |
| nssv14087472 | deletion | sample344 | Oligo aCGH | Probe signal intensity | 34 |
| nssv14088203 | deletion | sample377 | Oligo aCGH | Probe signal intensity | 9 |
| nssv14088269 | deletion | sample394 | Oligo aCGH | Probe signal intensity | 69 |
| nssv14088286 | deletion | sample398 | Oligo aCGH | Probe signal intensity | 71 |
| nssv14088335 | deletion | sample413 | Oligo aCGH | Probe signal intensity | 65 |
| nssv14088379 | deletion | sample423 | Oligo aCGH | Probe signal intensity | 63 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14085291 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14085815 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14085829 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14085873 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14086165 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14086222 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14087118 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14087197 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14087228 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14087472 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14088203 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14088269 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14088286 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14088335 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14088379 | Remapped | Perfect | NC_000008.11:g.(?_ 644429)_(648996_?) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 644,429 | 648,996 |
| nssv14085291 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14085815 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14085829 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14085873 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14086165 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14086222 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14087118 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14087197 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14087228 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14087472 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14088203 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14088269 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14088286 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14088335 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 | ||
| nssv14088379 | Submitted genomic | NC_000008.10:g.(?_ 594429)_(598996_?) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 594,429 | 598,996 |