nsv3113269
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:34
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,933
- 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: 968 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 968 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3113269 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nsv3113269 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14099035 | deletion | sample4 | Oligo aCGH | Probe signal intensity | 66 |
| nssv14099036 | deletion | sample6 | Oligo aCGH | Probe signal intensity | 85 |
| nssv14099043 | deletion | sample13 | Oligo aCGH | Probe signal intensity | 61 |
| nssv14099045 | deletion | sample14 | Oligo aCGH | Probe signal intensity | 61 |
| nssv14099060 | deletion | sample26 | Oligo aCGH | Probe signal intensity | 48 |
| nssv14099696 | deletion | sample33 | Oligo aCGH | Probe signal intensity | 71 |
| nssv14099701 | deletion | sample37 | Oligo aCGH | Probe signal intensity | 64 |
| nssv14099708 | deletion | sample40 | Oligo aCGH | Probe signal intensity | 87 |
| nssv14099723 | deletion | sample51 | Oligo aCGH | Probe signal intensity | 81 |
| nssv14099729 | deletion | sample54 | Oligo aCGH | Probe signal intensity | 86 |
| nssv14099743 | deletion | sample65 | Oligo aCGH | Probe signal intensity | 66 |
| nssv14099769 | deletion | sample88 | Oligo aCGH | Probe signal intensity | 71 |
| nssv14099839 | deletion | sample140 | Oligo aCGH | Probe signal intensity | 85 |
| nssv14099875 | deletion | sample165 | Oligo aCGH | Probe signal intensity | 43 |
| nssv14099887 | deletion | sample176 | Oligo aCGH | Probe signal intensity | 67 |
| nssv14099909 | deletion | sample193 | Oligo aCGH | Probe signal intensity | 31 |
| nssv14099910 | deletion | sample194 | Oligo aCGH | Probe signal intensity | 76 |
| nssv14099930 | deletion | sample207 | Oligo aCGH | Probe signal intensity | 53 |
| nssv14099936 | deletion | sample211 | Oligo aCGH | Probe signal intensity | 71 |
| nssv14099995 | deletion | sample256 | Oligo aCGH | Probe signal intensity | 76 |
| nssv14099999 | deletion | sample260 | Oligo aCGH | Probe signal intensity | 30 |
| nssv14100641 | deletion | sample272 | Oligo aCGH | Probe signal intensity | 54 |
| nssv14100699 | deletion | sample319 | Oligo aCGH | Probe signal intensity | 50 |
| nssv14100703 | deletion | sample327 | Oligo aCGH | Probe signal intensity | 23 |
| nssv14100705 | deletion | sample329 | Oligo aCGH | Probe signal intensity | 78 |
| nssv14100708 | deletion | sample330 | Oligo aCGH | Probe signal intensity | 25 |
| nssv14100730 | deletion | sample349 | Oligo aCGH | Probe signal intensity | 92 |
| nssv14100741 | deletion | sample357 | Oligo aCGH | Probe signal intensity | 59 |
| nssv14100752 | deletion | sample364 | Oligo aCGH | Probe signal intensity | 95 |
| nssv14100761 | deletion | sample373 | Oligo aCGH | Probe signal intensity | 100 |
| nssv14100781 | deletion | sample386 | Oligo aCGH | Probe signal intensity | 86 |
| nssv14100809 | deletion | sample398 | Oligo aCGH | Probe signal intensity | 71 |
| nssv14100833 | deletion | sample415 | Oligo aCGH | Probe signal intensity | 24 |
| nssv14100848 | deletion | sample424 | Oligo aCGH | Probe signal intensity | 70 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14099035 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099036 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099043 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099045 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099060 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099696 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099701 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099708 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099723 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099729 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099743 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099769 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099839 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099875 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099887 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099909 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099910 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099930 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099936 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099995 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099999 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100641 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100699 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100703 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100705 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100708 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100730 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100741 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100752 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100761 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100781 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100809 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100833 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14100848 | Remapped | Perfect | NC_000020.11:g.(?_ 1577695)_(1603627_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,577,695 | 1,603,627 |
| nssv14099035 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099036 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099043 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099045 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099060 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099696 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099701 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099708 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099723 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099729 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099743 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099769 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099839 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099875 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099887 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099909 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099910 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099930 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099936 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099995 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14099999 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100641 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100699 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100703 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100705 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100708 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100730 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100741 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100752 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100761 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100781 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100809 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100833 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 | ||
| nssv14100848 | Submitted genomic | NC_000020.10:g.(?_ 1558341)_(1584273_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,558,341 | 1,584,273 |