nsv3113267
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,982
- 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: 946 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 946 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3113267 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nsv3113267 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14099032 | deletion | sample2 | Oligo aCGH | Probe signal intensity | 30 |
| nssv14099034 | deletion | sample3 | Oligo aCGH | Probe signal intensity | 96 |
| nssv14099727 | deletion | sample53 | Oligo aCGH | Probe signal intensity | 59 |
| nssv14099753 | deletion | sample75 | Oligo aCGH | Probe signal intensity | 22 |
| nssv14099791 | deletion | sample101 | Oligo aCGH | Probe signal intensity | 68 |
| nssv14099805 | deletion | sample116 | Oligo aCGH | Probe signal intensity | 107 |
| nssv14099855 | deletion | sample151 | Oligo aCGH | Probe signal intensity | 12 |
| nssv14099868 | deletion | sample160 | Oligo aCGH | Probe signal intensity | 90 |
| nssv14099908 | deletion | sample191 | Oligo aCGH | Probe signal intensity | 68 |
| nssv14099912 | deletion | sample195 | Oligo aCGH | Probe signal intensity | 30 |
| nssv14099951 | deletion | sample222 | Oligo aCGH | Probe signal intensity | 71 |
| nssv14100668 | deletion | sample291 | Oligo aCGH | Probe signal intensity | 67 |
| nssv14100720 | deletion | sample341 | Oligo aCGH | Probe signal intensity | 37 |
| nssv14100721 | deletion | sample342 | Oligo aCGH | Probe signal intensity | 27 |
| nssv14100735 | deletion | sample351 | Oligo aCGH | Probe signal intensity | 41 |
| nssv14100845 | deletion | sample421 | Oligo aCGH | Probe signal intensity | 52 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14099032 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099034 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099727 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099753 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099791 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099805 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099855 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099868 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099908 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099912 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099951 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14100668 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14100720 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14100721 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14100735 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14100845 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1612928_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,612,928 |
| nssv14099032 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14099034 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14099727 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14099753 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14099791 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14099805 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14099855 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14099868 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14099908 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14099912 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14099951 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14100668 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14100720 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14100721 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14100735 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 | ||
| nssv14100845 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1593574_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,593,574 |