nsv3169661
- Organism: Homo sapiens
- Study:nstd156 (Fu et al. 2018)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:98,916
- Publication(s):Fu et al. 2018
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: 1195 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1208 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 481 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3169661 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,268,996 | 55,271,781 |
| nsv3169661 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,036,472 | 55,039,257 |
| nsv3169661 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,793,048 | 54,795,833 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14247435 | duplication | NGO_20 | SNP array | SNP genotyping analysis | 4 | 131 |
| nssv14241053 | deletion | SNI_17 | SNP array | SNP genotyping analysis | 1 | 129 |
| nssv14241130 | deletion | PML_3 | SNP array | SNP genotyping analysis | 1 | 132 |
| nssv14242597 | deletion | NGO_9 | SNP array | SNP genotyping analysis | 1 | 137 |
| nssv14242934 | deletion | NGO_6 | SNP array | SNP genotyping analysis | 1 | 141 |
| nssv14244337 | deletion | SNI_8 | SNP array | SNP genotyping analysis | 1 | 118 |
| nssv14246466 | deletion | SNI_6 | SNP array | SNP genotyping analysis | 1 | 131 |
| nssv14249063 | deletion | SNI_4 | SNP array | SNP genotyping analysis | 1 | 134 |
| nssv14250116 | deletion | SNI_7 | SNP array | SNP genotyping analysis | 1 | 128 |
| nssv14250552 | deletion | SNI_1 | SNP array | SNP genotyping analysis | 1 | 115 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14247435 | Remapped | Perfect | NC_000011.10:g.(55 172866_55198132)_( 55264544_55266799) dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,264,544 | 55,266,799 |
| nssv14241053 | Remapped | Perfect | NC_000011.10:g.(55 172866_55198132)_( 55268996_55271781) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,268,996 | 55,271,781 |
| nssv14241130 | Remapped | Perfect | NC_000011.10:g.(55 172866_55198132)_( 55268996_55271781) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,268,996 | 55,271,781 |
| nssv14242597 | Remapped | Perfect | NC_000011.10:g.(55 172866_55198132)_( 55268996_55271781) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,268,996 | 55,271,781 |
| nssv14242934 | Remapped | Perfect | NC_000011.10:g.(55 172866_55198132)_( 55268996_55271781) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,268,996 | 55,271,781 |
| nssv14244337 | Remapped | Perfect | NC_000011.10:g.(55 172866_55198132)_( 55268996_55271781) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,268,996 | 55,271,781 |
| nssv14246466 | Remapped | Perfect | NC_000011.10:g.(55 172866_55198132)_( 55268996_55271781) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,268,996 | 55,271,781 |
| nssv14249063 | Remapped | Perfect | NC_000011.10:g.(55 172866_55198132)_( 55268996_55271781) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,268,996 | 55,271,781 |
| nssv14250116 | Remapped | Perfect | NC_000011.10:g.(55 172866_55198132)_( 55268996_55271781) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,268,996 | 55,271,781 |
| nssv14250552 | Remapped | Perfect | NC_000011.10:g.(55 172866_55198132)_( 55268996_55271781) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,172,866 | 55,198,132 | 55,268,996 | 55,271,781 |
| nssv14247435 | Remapped | Perfect | NC_000011.9:g.(549 40342_54965608)_(5 5032020_55034275)d up | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,032,020 | 55,034,275 |
| nssv14241053 | Remapped | Perfect | NC_000011.9:g.(549 40342_54965608)_(5 5036472_55039257)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,036,472 | 55,039,257 |
| nssv14241130 | Remapped | Perfect | NC_000011.9:g.(549 40342_54965608)_(5 5036472_55039257)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,036,472 | 55,039,257 |
| nssv14242597 | Remapped | Perfect | NC_000011.9:g.(549 40342_54965608)_(5 5036472_55039257)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,036,472 | 55,039,257 |
| nssv14242934 | Remapped | Perfect | NC_000011.9:g.(549 40342_54965608)_(5 5036472_55039257)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,036,472 | 55,039,257 |
| nssv14244337 | Remapped | Perfect | NC_000011.9:g.(549 40342_54965608)_(5 5036472_55039257)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,036,472 | 55,039,257 |
| nssv14246466 | Remapped | Perfect | NC_000011.9:g.(549 40342_54965608)_(5 5036472_55039257)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,036,472 | 55,039,257 |
| nssv14249063 | Remapped | Perfect | NC_000011.9:g.(549 40342_54965608)_(5 5036472_55039257)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,036,472 | 55,039,257 |
| nssv14250116 | Remapped | Perfect | NC_000011.9:g.(549 40342_54965608)_(5 5036472_55039257)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,036,472 | 55,039,257 |
| nssv14250552 | Remapped | Perfect | NC_000011.9:g.(549 40342_54965608)_(5 5036472_55039257)d el | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 54,940,342 | 54,965,608 | 55,036,472 | 55,039,257 |
| nssv14247435 | Submitted genomic | NC_000011.8:g.(546 96918_54722184)_(5 4788596_54790851)d up | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,788,596 | 54,790,851 | ||
| nssv14241053 | Submitted genomic | NC_000011.8:g.(546 96918_54722184)_(5 4793048_54795833)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,793,048 | 54,795,833 | ||
| nssv14241130 | Submitted genomic | NC_000011.8:g.(546 96918_54722184)_(5 4793048_54795833)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,793,048 | 54,795,833 | ||
| nssv14242597 | Submitted genomic | NC_000011.8:g.(546 96918_54722184)_(5 4793048_54795833)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,793,048 | 54,795,833 | ||
| nssv14242934 | Submitted genomic | NC_000011.8:g.(546 96918_54722184)_(5 4793048_54795833)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,793,048 | 54,795,833 | ||
| nssv14244337 | Submitted genomic | NC_000011.8:g.(546 96918_54722184)_(5 4793048_54795833)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,793,048 | 54,795,833 | ||
| nssv14246466 | Submitted genomic | NC_000011.8:g.(546 96918_54722184)_(5 4793048_54795833)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,793,048 | 54,795,833 | ||
| nssv14249063 | Submitted genomic | NC_000011.8:g.(546 96918_54722184)_(5 4793048_54795833)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,793,048 | 54,795,833 | ||
| nssv14250116 | Submitted genomic | NC_000011.8:g.(546 96918_54722184)_(5 4793048_54795833)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,793,048 | 54,795,833 | ||
| nssv14250552 | Submitted genomic | NC_000011.8:g.(546 96918_54722184)_(5 4793048_54795833)d el | NCBI36 (hg18) | NC_000011.8 | Chr11 | 54,696,918 | 54,722,184 | 54,793,048 | 54,795,833 |