nsv3110446
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,608
- 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: 183 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 47 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3110446 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 80,430,891 | 80,434,498 |
nsv3110446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 80,824,671 | 80,828,278 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14091508 | deletion | sample53 | Oligo aCGH | Probe signal intensity | 59 |
nssv14091603 | deletion | sample81 | Oligo aCGH | Probe signal intensity | 106 |
nssv14091637 | deletion | sample88 | Oligo aCGH | Probe signal intensity | 71 |
nssv14092476 | deletion | sample259 | Oligo aCGH | Probe signal intensity | 86 |
nssv14092615 | deletion | sample304 | Oligo aCGH | Probe signal intensity | 87 |
nssv14092660 | deletion | sample316 | Oligo aCGH | Probe signal intensity | 83 |
nssv14093764 | deletion | sample359 | Oligo aCGH | Probe signal intensity | 103 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14091508 | Remapped | Perfect | NC_000012.12:g.(?_ 80430891)_(8043449 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,430,891 | 80,434,498 |
nssv14091603 | Remapped | Perfect | NC_000012.12:g.(?_ 80430891)_(8043449 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,430,891 | 80,434,498 |
nssv14091637 | Remapped | Perfect | NC_000012.12:g.(?_ 80430891)_(8043449 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,430,891 | 80,434,498 |
nssv14092476 | Remapped | Perfect | NC_000012.12:g.(?_ 80430891)_(8043449 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,430,891 | 80,434,498 |
nssv14092615 | Remapped | Perfect | NC_000012.12:g.(?_ 80430891)_(8043449 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,430,891 | 80,434,498 |
nssv14092660 | Remapped | Perfect | NC_000012.12:g.(?_ 80430891)_(8043449 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,430,891 | 80,434,498 |
nssv14093764 | Remapped | Perfect | NC_000012.12:g.(?_ 80430891)_(8043449 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,430,891 | 80,434,498 |
nssv14091508 | Submitted genomic | NC_000012.11:g.(?_ 80824671)_(8082827 8_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 80,824,671 | 80,828,278 | ||
nssv14091603 | Submitted genomic | NC_000012.11:g.(?_ 80824671)_(8082827 8_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 80,824,671 | 80,828,278 | ||
nssv14091637 | Submitted genomic | NC_000012.11:g.(?_ 80824671)_(8082827 8_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 80,824,671 | 80,828,278 | ||
nssv14092476 | Submitted genomic | NC_000012.11:g.(?_ 80824671)_(8082827 8_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 80,824,671 | 80,828,278 | ||
nssv14092615 | Submitted genomic | NC_000012.11:g.(?_ 80824671)_(8082827 8_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 80,824,671 | 80,828,278 | ||
nssv14092660 | Submitted genomic | NC_000012.11:g.(?_ 80824671)_(8082827 8_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 80,824,671 | 80,828,278 | ||
nssv14093764 | Submitted genomic | NC_000012.11:g.(?_ 80824671)_(8082827 8_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 80,824,671 | 80,828,278 |