nsv3111610
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:35
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,588
- 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: 254 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 253 SVs from 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3111610 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nsv3111610 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14097629 | deletion | sample207 | Oligo aCGH | Probe signal intensity | 53 |
| nssv14097661 | deletion | sample218 | Oligo aCGH | Probe signal intensity | 76 |
| nssv14097682 | deletion | sample226 | Oligo aCGH | Probe signal intensity | 68 |
| nssv14097714 | deletion | sample245 | Oligo aCGH | Probe signal intensity | 89 |
| nssv14097717 | deletion | sample246 | Oligo aCGH | Probe signal intensity | 86 |
| nssv14097737 | deletion | sample260 | Oligo aCGH | Probe signal intensity | 30 |
| nssv14097757 | deletion | sample271 | Oligo aCGH | Probe signal intensity | 66 |
| nssv14097814 | deletion | sample296 | Oligo aCGH | Probe signal intensity | 106 |
| nssv14097970 | deletion | sample17 | Oligo aCGH | Probe signal intensity | 61 |
| nssv14097981 | deletion | sample27 | Oligo aCGH | Probe signal intensity | 83 |
| nssv14098033 | deletion | sample49 | Oligo aCGH | Probe signal intensity | 43 |
| nssv14098054 | deletion | sample56 | Oligo aCGH | Probe signal intensity | 76 |
| nssv14098057 | deletion | sample57 | Oligo aCGH | Probe signal intensity | 34 |
| nssv14098104 | deletion | sample77 | Oligo aCGH | Probe signal intensity | 72 |
| nssv14098106 | deletion | sample78 | Oligo aCGH | Probe signal intensity | 91 |
| nssv14098114 | deletion | sample81 | Oligo aCGH | Probe signal intensity | 106 |
| nssv14098515 | deletion | sample326 | Oligo aCGH | Probe signal intensity | 49 |
| nssv14098561 | deletion | sample354 | Oligo aCGH | Probe signal intensity | 20 |
| nssv14098593 | deletion | sample363 | Oligo aCGH | Probe signal intensity | 100 |
| nssv14098632 | deletion | sample379 | Oligo aCGH | Probe signal intensity | 89 |
| nssv14098674 | deletion | sample400 | Oligo aCGH | Probe signal intensity | 92 |
| nssv14098681 | deletion | sample403 | Oligo aCGH | Probe signal intensity | 69 |
| nssv14098709 | deletion | sample416 | Oligo aCGH | Probe signal intensity | 64 |
| nssv14098726 | deletion | sample424 | Oligo aCGH | Probe signal intensity | 70 |
| nssv14098761 | deletion | sample89 | Oligo aCGH | Probe signal intensity | 102 |
| nssv14098802 | deletion | sample105 | Oligo aCGH | Probe signal intensity | 45 |
| nssv14098825 | deletion | sample114 | Oligo aCGH | Probe signal intensity | 35 |
| nssv14098858 | deletion | sample127 | Oligo aCGH | Probe signal intensity | 60 |
| nssv14098865 | deletion | sample131 | Oligo aCGH | Probe signal intensity | 50 |
| nssv14098867 | deletion | sample133 | Oligo aCGH | Probe signal intensity | 80 |
| nssv14098880 | deletion | sample138 | Oligo aCGH | Probe signal intensity | 112 |
| nssv14098891 | deletion | sample142 | Oligo aCGH | Probe signal intensity | 89 |
| nssv14098920 | deletion | sample156 | Oligo aCGH | Probe signal intensity | 83 |
| nssv14098935 | deletion | sample163 | Oligo aCGH | Probe signal intensity | 93 |
| nssv14098951 | deletion | sample172 | Oligo aCGH | Probe signal intensity | 55 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14097629 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14097661 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14097682 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14097714 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14097717 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14097737 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14097757 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14097814 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14097970 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14097981 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098033 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098054 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098057 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098104 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098106 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098114 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098515 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098561 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098593 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098632 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098674 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098681 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098709 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098726 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098761 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098802 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098825 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098858 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098865 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098867 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098880 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098891 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098920 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098935 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14098951 | Remapped | Perfect | NC_000017.11:g.(?_ 54082961)_(5408554 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 54,082,961 | 54,085,548 |
| nssv14097629 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14097661 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14097682 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14097714 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14097717 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14097737 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14097757 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14097814 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14097970 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14097981 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098033 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098054 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098057 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098104 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098106 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098114 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098515 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098561 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098593 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098632 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098674 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098681 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098709 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098726 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098761 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098802 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098825 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098858 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098865 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098867 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098880 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098891 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098920 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098935 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 | ||
| nssv14098951 | Submitted genomic | NC_000017.10:g.(?_ 52160322)_(5216290 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 52,160,322 | 52,162,909 |